diff --git a/Makefile b/Makefile index 0a44717..54394e4 100644 --- a/Makefile +++ b/Makefile @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # @@ -39,7 +39,7 @@ TCLDIRDISTRIBUTED := share/tcl TCLDIR := $(SHAREDIR)/$(TCLVERSION) PYTHONDIR := $(SHAREDIR)/python3 ANNOTSV := AnnotSV -VERSION := 3.4.3 +VERSION := 3.4.4 RM := /bin/rm RMDIR := /bin/rmdir MKDIR := install -d diff --git a/bin/AnnotSV b/bin/AnnotSV index 5bb3fd4..f693b9c 100755 --- a/bin/AnnotSV +++ b/bin/AnnotSV @@ -1,7 +1,7 @@ #!/usr/bin/env tclsh ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/changeLog.txt b/changeLog.txt index 7e873a2..417f41d 100644 --- a/changeLog.txt +++ b/changeLog.txt @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # An integrated tool for Structural Variations annotation # # # @@ -10,6 +10,9 @@ For more details, please see the README file. +September, 05, 2024, AnnotSV version 3.4.4 + - Temporary fix for issues #239 and #250 (wrong PRDM10 line in the GenCC file) + => Code to be removed after updating annotations August, 29, 2024, AnnotSV version 3.4.3 - New definition of alias gene symbols used in OMIM annotation files. diff --git a/share/doc/AnnotSV/Example/test_GRCh37.annotated.example.tsv b/share/doc/AnnotSV/Example/test_GRCh37.annotated.example.tsv index 7dc7352..6841e52 100644 --- a/share/doc/AnnotSV/Example/test_GRCh37.annotated.example.tsv +++ b/share/doc/AnnotSV/Example/test_GRCh37.annotated.example.tsv @@ -11,7 +11,7 @@ AnnotSV_ID SV_chrom SV_start SV_end SV_length SV_type Biologist_annotation Biolo 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 TSSK2 NM_053006 5 19118820 19120135 1315 1077 88 no 1 txStart-txEnd 5'UTR-3'UTR 19118820 19120135 dbVar chr22:19072999-19342000;chr22:19096500-19120500 0.01 dbVar chr22:18934999-21466000 0.01 IMH 22:17036164-22613666;22:18655109-20719124;22:18904624-20296851;22:18939719-20275949;22:18954422-20259184;22:18957903-20255847;22:19014638-21718005 0.4801 33.13 -2.62354415217069 -2.53125239294469 -2.47162789907313 -0.184731887964386 1.02819617031079 23617 6 3.8610e-03 4.1565e-03 full=5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 GSC2 NM_005315 2 19134505 19137805 3300 618 100 no 3 txStart-txEnd 5'UTR-3'UTR 19134505 19137805 dbVar chr22:19072999-19342000 0.01 dbVar chr22:18934999-21466000 0.01 IMH 22:17036164-22613666;22:18655109-20719124;22:18904624-20296851;22:18939719-20275949;22:18954422-20259184;22:18957903-20255847;22:19014638-21718005 0.4801 65.74 1.18735715980007 0.932740471460801 2928 9 4.4347e-03 3.7186e-02 full=5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 LINC01311 NR_103767 1 19159218 19160345 1127 0 0 no 1 txStart-txEnd UTR 19159218 19160345 dbVar chr22:19072999-19342000 0.01 dbVar chr22:18934999-21466000 0.01 IMH 22:17036164-22613666;22:18655109-20719124;22:18904624-20296851;22:18939719-20275949;22:18954422-20259184;22:18957903-20255847;22:19014638-21718005 0.4801 100652736 full=5 -22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 SLC25A1 NM_001256534 2 19163093 19166018 2925 957 100 no 8 txStart-txEnd 5'UTR-3'UTR 19163093 19166018 9 2-hydroxyglutaric_aciduria;D,L-2-hydroxyglutaric_aciduria;Inborn_genetic_diseases;Myasthenic_syndrome,_congenital,_23,_presynaptic;SLC25A1-related_condition dbVar chr22:19072999-19342000 0.01 dbVar chr22:18934999-21466000;chr22:19161075-19192940 0.01 IMH 22:17036164-22613666;22:18655109-20719124;22:18904624-20296851;22:18939719-20275949;22:18954422-20259184;22:18957903-20255847;22:19014638-21718005 0.4801 30 46.07 -2.62354415217069 -2.53125239294469 -2.47162789907313 0.459211010381399 1.99698466418685 D,L-2-hydroxyglutaric aciduria;mitochondrial disease;myasthenic syndrome, congenital, 23, presynaptic;presynaptic congenital myasthenic syndrome AD;AR Definitive;Limited;Strong;Supportive 23561848;23561848[PMID]_23393310[PMID];26273529;26870663;29238895;31527857;31808147;NULL 6576 190315 Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3) AR;Myasthenic syndrome, congenital, 23, presynaptic, 618197 (3) AR AR yes 3 5.8829e-02 6.3354e-01 full=5 +22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 SLC25A1 NM_001256534 2 19163093 19166018 2925 957 100 no 8 txStart-txEnd 5'UTR-3'UTR 19163093 19166018 9 2-hydroxyglutaric_aciduria;D,L-2-hydroxyglutaric_aciduria;Inborn_genetic_diseases;Myasthenic_syndrome,_congenital,_23,_presynaptic;SLC25A1-related_condition dbVar chr22:19072999-19342000 0.01 dbVar chr22:18934999-21466000;chr22:19161075-19192940 0.01 IMH 22:17036164-22613666;22:18655109-20719124;22:18904624-20296851;22:18939719-20275949;22:18954422-20259184;22:18957903-20255847;22:19014638-21718005 0.4801 30 46.07 -2.62354415217069 -2.53125239294469 -2.47162789907313 0.459211010381399 1.99698466418685 D,L-2-hydroxyglutaric aciduria;myasthenic syndrome, congenital, 23, presynaptic;presynaptic congenital myasthenic syndrome AD;AR Limited;Strong;Supportive 23561848;23561848[PMID]_23393310[PMID];26273529;26870663;29238895;31527857;31808147;NULL 6576 190315 Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3) AR;Myasthenic syndrome, congenital, 23, presynaptic, 618197 (3) AR AR yes 3 5.8829e-02 6.3354e-01 full=5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 CLTCL1 NM_007098 4 19166985 19279242 112257 4923 100 no 33 txStart-txEnd 5'UTR-3'UTR 19166985 19279242 dbVar chr22:19072999-19342000 0.01 dbVar chr22:18934999-21466000 0.01 IMH 22:17036164-22613666;22:18655109-20719124;22:18904624-20296851;22:18939719-20275949;22:18954422-20259184;22:18957903-20255847;22:19014638-21718005 0.4801 724952;22726;768149;546696 loss 72.86 -2.62354415217069 -2.53125239294469 -2.47162789907313 -0.597972033048653 -1.19469008098196 congenital insensitivity to pain with severe intellectual disability;multiple congenital anomalies/dysmorphic syndrome AD;AR Limited;Supportive 26068709[PMID] 8218 5 2.5101e-37 1.2408e-26 full=5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 HIRA NM_003325 4 19318220 19419256 101036 3054 100 no 25 txStart-txEnd 5'UTR-3'UTR 19318220 19419256 dbVar chr22:18934999-21466000 0.01 IMH 22:17036164-22613666;22:18655109-20719124;22:18904624-20296851;22:18939719-20275949;22:18954422-20259184;22:18957903-20255847;22:19014638-21718005 0.4801 724953;521179;520035 loss 0 0 19.48 -2.51547904504873 -2.53125239294469 -2.47162789907313 -0.543665561522748 3.98018572942351 7290 0 1.0000e+00 1.0000e+00 full=5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 MRPL40 NM_003776 4 19420067 19423598 3531 621 100 no 4 txStart-txEnd 5'UTR-3'UTR 19420067 19423598 dbVar chr22:19344390-19544397 0.01 dbVar chr22:18934999-21466000 0.01 IMH 22:17036164-22613666;22:18655109-20719124;22:18904624-20296851;22:18939719-20275949;22:18954422-20259184;22:18957903-20255847;22:19014638-21718005 0.4801 54.99 -2.62354415217069 -2.53125239294469 -2.47162789907313 0.0822917398873284 -0.450618700229176 64976 4 5.2924e-02 2.0082e-02 full=5 @@ -63,7 +63,7 @@ AnnotSV_ID SV_chrom SV_start SV_end SV_length SV_type Biologist_annotation Biolo 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 PI4KA NM_058004 4 21061978 21213099 151121 6309 100 no 55 txStart-txEnd 5'UTR-3'UTR 21061978 21213099 Gastrointestinal defects and immunodeficiency syndrome 2, 619708 (3) AR;Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 (3) AR;Spastic paraplegia 84, AR, 619621 (3) AR;Thrombophilia 10 due to heparin cofactor II deficiency, 612356 (3) AD morbid:PI4KA;morbid:SERPIND1 22:21061979-21213099;22:21128401-21142008 8 PI4KA-Related_Disorders;Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis;Spastic_paraplegia_84,_autosomal_recessive dbVar chr22:20989999-21481000 0.01 dbVar chr22:18934999-21466000;chr22:21052000-21466000 0.01 IMH 22:17036164-22613666;22:19014638-21718005;22:21042853-21483407 0.1686 513199;263494;724990;724991;768172;768173;1061246;1068660;1060873;1070188;1065051;1068661;1073865;1068662;1069644;1066059;724992;724993;367925;2069010;724994;724995;75440 loss;gain 35.17 1.20573288011437 5.29477062168781 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis AR Definitive;Moderate;Strong 25855803;29738522;30614210;34415310;34415322 5297 600286 Gastrointestinal defects and immunodeficiency syndrome 2, 619708 (3) AR;Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 (3) AR;Spastic paraplegia 84, AR, 619621 (3) AR AR yes 2 3.1234e-12 8.0407e-04 full=5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 SERPIND1 NM_000185 4 21128400 21142008 13608 1500 100 no 5 txStart-txEnd 5'UTR-3'UTR 21128400 21142008 Thrombophilia 10 due to heparin cofactor II deficiency, 612356 (3) AD morbid:SERPIND1 22:21128401-21142008 dbVar chr22:20989999-21481000;chr22:21078735-21159481 0.01 dbVar chr22:18934999-21466000;chr22:21052000-21466000;chr22:21078735-21159481 0.01 IMH 22:17036164-22613666;22:19014638-21718005;22:21042853-21483407 0.1686 724992;724993 loss 68.88 -1.06265755233802 -1.49456297636655 -1.03231231326932 -0.289055396385536 -0.349034099945665 heparin cofactor 2 deficiency AD Definitive;Limited;Strong 15337701;2647747;277130;8562924 3053 142360 Thrombophilia 10 due to heparin cofactor II deficiency, 612356 (3) AD AD yes 8 2.5137e-10 2.7955e-05 full=5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 SNAP29 NM_004782 4 21213294 21245502 32208 777 100 no 5 txStart-txEnd 5'UTR-3'UTR 21213294 21245502 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3) AR morbid:SNAP29 22:21213295-21245502 10 CEDNIK_syndrome;Hypomyelinating_leukodystrophy_2 dbVar chr22:20989999-21481000 0.01 dbVar chr22:18934999-21466000;chr22:21052000-21466000 0.01 IMH 22:17036164-22613666;22:19014638-21718005;22:21042853-21483407 0.1686 30 61.36 -1.39880243235913 -1.53414994058354 -1.19910660480315 1.58078637399342 -0.841707455415557 CEDNIK syndrome AR Strong;Supportive 15968592;15968592[PMID]_21073448[PMID];21073448;23231787;25473036;26747696 9342 604202 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3) AR AR yes 4 1.3567e-02 1.5166e-01 full=5 -22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 CRKL NM_005207 4 21271694 21308035 36341 912 100 no 3 txStart-txEnd 5'UTR-3'UTR 21271694 21308035 dbVar chr22:20989999-21481000;chr22:21256865-21435776 0.01 dbVar chr22:18934999-21466000;chr22:21052000-21466000;chr22:21256865-21435776 0.01 IMH 22:17036164-22613666;22:19014638-21718005;22:21042853-21483407 0.1686 687520;325941 gain 1 0 4.35 -0.928255048107525 -1.20830830104818 -0.791505674827999 0.477351976371369 3.00980268645085 congenital heart disease No Known Disease Relationship 1399 3 4.4604e-01 1.6345e-01 full=5 +22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 CRKL NM_005207 4 21271694 21308035 36341 912 100 no 3 txStart-txEnd 5'UTR-3'UTR 21271694 21308035 dbVar chr22:20989999-21481000;chr22:21256865-21435776 0.01 dbVar chr22:18934999-21466000;chr22:21052000-21466000;chr22:21256865-21435776 0.01 IMH 22:17036164-22613666;22:19014638-21718005;22:21042853-21483407 0.1686 687520;325941 gain 1 0 4.35 -0.928255048107525 -1.20830830104818 -0.791505674827999 0.477351976371369 3.00980268645085 1399 3 4.4604e-01 1.6345e-01 full=5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 LINC01637 NR_110537 1 21311379 21318968 7589 0 0 no 2 txStart-txEnd UTR 21311379 21318968 dbVar chr22:20989999-21481000;chr22:21256865-21435776 0.01 dbVar chr22:18934999-21466000;chr22:21052000-21466000;chr22:21256865-21435776 0.01 IMH 22:17036164-22613666;22:19014638-21718005;22:21042853-21483407 0.1686 101928891 full=5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 AIFM3 NM_144704 3 21319459 21335647 16188 1818 100 no 21 txStart-txEnd 5'UTR-3'UTR 21319459 21335647 dbVar chr22:20989999-21481000;chr22:21256865-21435776 0.01 dbVar chr22:18934999-21466000;chr22:21052000-21466000;chr22:21256865-21435776 0.01 IMH 22:17036164-22613666;22:19014638-21718005;22:21042853-21483407 0.1686 38.59 -1.14442881641699 -1.26664892202732 -0.922844550293754 0.687283106386744 1.33036583543754 150209 5 1.9474e-14 1.9583e-10 full=5 22_18894836_21464119_DEL_1 22 18894836 21464119 -2569283 DEL Di George syndrom Pathogenic NA split q11.21 LZTR1 NM_006767 4 21336585 21353321 16736 2523 100 no 21 txStart-txEnd 5'UTR-3'UTR 21336585 21353321 Noonan syndrome 10, 616564 (3) AD;Noonan syndrome 2, 605275 (3) AR;Schwannomatosis-2, susceptibility to, 615670 (3) AD CLN:2871255;dbVar:nssv17171582;dbVar:nssv17971092;morbid:LZTR1 22:21336586-21353321;22:21336662-21337398;22:21336662-21351637;22:21348908-21348985 CLN:1349334;dbVar:nssv17974796 22:21337344-21337343;22:21337344-21337456 287 Autism_spectrum_disorder;Cardiovascular_phenotype;Fetal_cystic_hygroma;Hereditary_cancer-predisposing_syndrome;Inborn_genetic_diseases;LZTR1-related_condition;LZTR1-related_disorders;Noonan_syndrome;Noonan_syndrome_10;Noonan_syndrome_2;Noonan_syndrome_and_Noonan-related_syndrome;RASopathy;Schwannomatosis;Schwannomatosis_2;See_cases;Short_stature dbVar chr22:20989999-21481000;chr22:21256865-21435776 0.01 dbVar chr22:18934999-21466000;chr22:21052000-21466000;chr22:21256865-21435776 0.01 IMH 22:17036164-22613666;22:19014638-21718005;22:21042853-21483407 0.1686 687522 gain 32.82 -1.25119505668143 -1.28020537251329 -0.946080819110286 0.246895000414255 0.909128978651125 Noonan syndrome;Noonan syndrome 10;Noonan syndrome 2;schwannomatosis 2 AD;AR Definitive;Moderate;Strong;Supportive 15955931;16534111;23401320;24362817;25335493;25480913;25795793;25795793[PMID];26446362;274799;278971;287232;29469822;30368668;303983;30442762;30442766;30481304;30664951;30859559;31533111;31825158 8216 600574 Noonan syndrome 10, 616564 (3) AD;Noonan syndrome 2, 605275 (3) AR;(Schwannomatosis-2, susceptibility to), 615670 (3) AD AD;AR yes yes 9 1.0211e-92 3.3832e-52 full=5 @@ -175,7 +175,7 @@ AnnotSV_ID SV_chrom SV_start SV_end SV_length SV_type Biologist_annotation Biolo 4_71553_9371067_DEL_1 4 71553 9371067 -9299514 DEL 4p- syndrom Pathogenic NA split p16.1 JAKMIP1-DT NR_037863 1 6202459 6235663 33204 0 0 no 4 txStart-txEnd UTR 6202459 6235663 dbVar chr4:5960239-6587328 0.01 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 285484 full=5 4_71553_9371067_DEL_1 4 71553 9371067 -9299514 DEL 4p- syndrom Pathogenic NA split p16.1 WFS1 NM_001145853 1 6271576 6304992 33416 2673 100 no 8 txStart-txEnd 5'UTR-3'UTR 6271576 6304992 ?Cataract 41, 116400 (3) AD;Deafness, AD 6;14;38, 600965 (3) AD;Wolfram syndrome 1, 222300 (3) AR;Wolfram-like syndrome, AD, 614296 (3) AD;Diabetes mellitus, noninsulin-dependent, association with, 125853 (3) AD dbVar:nssv18790633;morbid:WFS1 4:6271577-6304992;4:6279184-6279434 114 Abnormality_of_the_cervical_spine;Abnormality_of_the_diaphragm;Abnormality_of_the_vertebral_column;Arachnodactyly;Autosomal_dominant_nonsyndromic_hearing_loss_6;Cataract_41;Cerebellar_vermis_hypoplasia;Cleft_palate;Congenital_laryngomalacia;Dandy-Walker_syndrome;Diabetes_mellitus;Diaphragmatic_eventration;Duane_retraction_syndrome;Feeding_difficulties;Global_developmental_delay;Hydronephrosis;Hydroureter;Inborn_genetic_diseases;Microglossia;Micrognathia;Night_blindness;Nonsyndromic_genetic_hearing_loss;Rare_genetic_deafness;See_cases;Sensorineural_hearing_loss_disorder;Small_hand;Type_2_diabetes_mellitus;WFS1-Related_Spectrum_Disorders;WFS1-related_condition;WFS1-related_disorder;Wolfram-like_syndrome;Wolfram_syndrome;Wolfram_syndrome_1 dbVar chr4:5960239-6587328 0.01 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 973360;107748;44904;51246;59959;67149;32350;320364 gain;loss 0 0 33.79 0.279433736423428 0.30418592454869 0.420298457025828 Wolfram syndrome;Wolfram syndrome 1;Wolfram-like syndrome;autosomal dominant nonsyndromic hearing loss;autosomal dominant nonsyndromic hearing loss 6;cataract 41;early-onset nuclear cataract;type 2 diabetes mellitus AD;AR Definitive;Limited;Strong;Supportive 10521293;11161832;11295831;11317648;11709537;11709538;12073007;12107816;12707373;12754709;12955714;14724730;15070927;15151504;15277431;15503287;15605410;16151413;16442662;16459465;16648378;16806192;16806192[PMID]_12913071[PMID];17492394;17568405;18544103;18660851;18806274;19042979;19160074;20069065;20069065[PMID]_20301750[PMID];20301607[PMID]_24148127[PMID];20875904;21067485;21446023;21538838;21564155;21602428;21623591;21726277;21823543;21968327;22226368;222300;22238590;22311385;22781099;23103830;23373429;23531866;23531866[PMID];243330;248846;251462;25250959;25390390;27395765;28802351;29529044;31313226;31555371;34014271;35018440;606201;9771706 7466 606201 ?Cataract 41, 116400 (3) AD;Deafness, AD 6/14/38, 600965 (3) AD;Wolfram syndrome 1, 222300 (3) AR;Wolfram-like syndrome, AD, 614296 (3) AD;(Diabetes mellitus, noninsulin-dependent, association with), 125853 (3) AD AD;AR yes yes 9 1.6231e-38 full=5 4_71553_9371067_DEL_1 4 71553 9371067 -9299514 DEL 4p- syndrom Pathogenic NA split p16.1 PPP2R2C NM_020416 4 6322307 6474341 152034 1344 100 no 9 txStart-txEnd 5'UTR-3'UTR 6322307 6474341 dbVar chr4:5960239-6587328 0.01 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 772379;26138;592497;772380;448916;195136;195737;195780;320366;772381;97607;93866;840298;434816;74069;277029;373837;547730;460364;1004835;869945;250336;311600;547731;772386;772387;772388;422017;416592;807978;20850;28306;416593;1027612;1027638;1027613 loss;gain 50.29 0.338434929038259 0.422718688109719 0.476236130280707 -0.54023780146542 4.10111380803453 5522 1 8.9954e-01 5.6445e-01 full=5 -4_71553_9371067_DEL_1 4 71553 9371067 -9299514 DEL 4p- syndrom Pathogenic NA split p16.1 MAN2B2 NM_015274 3 6576915 6625089 48174 3030 100 no 19 txStart-txEnd 5'UTR-3'UTR 6576915 6625089 dbVar chr4:6438729-6651391 0.01 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 311602;472835;322698;302039;224062;224313;289114 loss;gain 83.66 -1.20308868163847 -0.039423685654856 -0.514512683951566 0.311204487601666 -0.733522379663636 MAN2B2 deficiency AR Limited 23324 5 6.5570e-23 4.3573e-18 full=5 +4_71553_9371067_DEL_1 4 71553 9371067 -9299514 DEL 4p- syndrom Pathogenic NA split p16.1 MAN2B2 NM_015274 3 6576915 6625089 48174 3030 100 no 19 txStart-txEnd 5'UTR-3'UTR 6576915 6625089 dbVar chr4:6438729-6651391 0.01 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 311602;472835;322698;302039;224062;224313;289114 loss;gain 83.66 -1.20308868163847 -0.039423685654856 -0.514512683951566 0.311204487601666 -0.733522379663636 23324 5 6.5570e-23 4.3573e-18 full=5 4_71553_9371067_DEL_1 4 71553 9371067 -9299514 DEL 4p- syndrom Pathogenic NA split p16.1 MRFAP1 NM_001272053 2 6642411 6644456 2045 384 96 no 3 txStart-txEnd 5'UTR-3'UTR 6642411 6644456 dbVar chr4:6438729-6651391 0.01 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 78.84 0.686792213866423 0.236901723651345 0.49521306481059 0.837271434822507 2.12628699887071 93621 6 3.1404e-01 1.7706e-01 full=5 4_71553_9371067_DEL_1 4 71553 9371067 -9299514 DEL 4p- syndrom Pathogenic NA split p16.1 LINC02482 NR_134664 1 6672454 6675608 3154 0 0 no 2 txStart-txEnd UTR 6672454 6675608 dbVar chr4:6666000-6686000 0.01 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 105374366 full=5 4_71553_9371067_DEL_1 4 71553 9371067 -9299514 DEL 4p- syndrom Pathogenic NA split p16.1 LOC93622 NM_138699 3 6675801 6677774 1973 360 19 no 1 txStart-txEnd 5'UTR-3'UTR 6675801 6677774 dbVar chr4:6666000-6686000 0.01 IMH 4:2823210-17706072;4:4005753-9642302;4:4006353-9641444;4:4041723-9068132;4:4151586-8958950 0.1474 full=5 @@ -267,7 +267,7 @@ AnnotSV_ID SV_chrom SV_start SV_end SV_length SV_type Biologist_annotation Biolo 16_1565630_1571297_DUP_1 16 1565630 1571297 5667 DUP IFT140 tandem duplication Pathogenic NA full p13.3 IFT140 TELO2 TMEM204 1 dbVar:nssv17973053 16:1568198-1570829 dbVar:nssv16208781 16:1568218-1570809 Cranioectodermal_dysplasia|Saldino-Mainzer_syndrome|Joubert_syndrome_with_Jeune_asphyxiating_thoracic_dystrophy dbVar:nssv15158812;dbVar:nssv15148703;dbVar:nssv15147067;dbVar:nssv15148669;dbVar:nssv15147068;dbVar:nssv17649874;dbVar:nssv15152396;dbVar:nssv15150758;dbVar:nssv15149904;dbVar:nssv15154767;dbVar:nssv16254459;dbVar:nssv15149503;dbVar:nssv15150639;nssv15151292;dbVar:nssv15158813;dbVar:nssv15158224;dbVar:nssv15147425;dbVar:nssv15147959;dbVar:nssv15147069;dbVar:nssv15148094;dbVar:nssv15147790;dbVar:nssv8639650;dbVar:nssv15606077;dbVar:nssv18326373;dbVar:nssv15146792;dbVar:nssv15147071;dbVar:nssv15145754;dbVar:nssv15155466;dbVar:nssv17955877;dbVar:nssv18841986;CLN:513805 16:61452-90294632;16:69194-90274381;16:73142-11390552;16:78802-9169448;16:79942-2610461;16:84486-5251013;16:85881-11209288;16:85881-19806921;16:85881-22442007;16:85881-3216551;16:85881-5249457;16:85881-9883129;16:85882-90155062;16:88166-90163275;16:88166-90274695;16:93733-13420663;16:96767-11619372;16:96767-3264623;16:96767-4297186;16:97134-5122974;16:102840-28327676;16:109979-4316797;16:111044-6627459;16:716663-15836961;16:1271652-2283774;16:1328823-1969149;16:1505185-4415346;16:1561202-1573469;16:1565604-1571309;16:1565629-1571298 0.01;0.01;0.05;0.06;0.22;0.11;0.05;0.03;0.03;0.18;0.11;0.06;0.01;0.01;0.01;0.04;0.05;0.18;0.13;0.11;0.02;0.13;0.09;0.04;0.56;0.89;0.19;46.20;99.33;99.96 Retinitis pigmentosa 80, 617781 (3) AR;Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3) AR dbVar:nssv15173022;dbVar:nssv15145815;dbVar:nssv15147164;dbVar:nssv15155465;dbVar:nssv15776300;dbVar:nssv15146945;dbVar:nssv15148829;dbVar:nssv15148018;dbVar:nssv15145816;dbVar:nssv18790909;nssv18790910;dbVar:nssv15771714;dbVar:nssv16214818;dbVar:nssv18792796;dbVar:nssv16214651;morbid:IFT140 16:61452-1593645;16:73142-1762524;16:73142-1823350;16:85881-1875694;16:85881-2053328;16:88166-1715454;16:96723-1917328;16:96767-1594015;16:96767-2047583;16:256303-1657267;16:624056-2115656;16:624056-2148005;16:811897-2130379;16:1203719-2185710;16:1560428-1662073 0.37;0.34;0.32;0.32;0.29;0.35;0.31;0.38;0.29;0.40;0.38;0.37;0.43;0.58;5.58 13 Jeune_thoracic_dystrophy;Retinal_dystrophy;Retinitis_pigmentosa;Retinitis_pigmentosa_80;Saldino-Mainzer_syndrome chr16:1527000-1569000 dbVar 0.520 0.500 16:1565418-1565697;16:1565698-1565893 AluJr;L1MEf 16:1571134-1571365 AluJb 69.24 -1.52736818830718 -0.448946429663129 -0.844654865976432 -0.922111894578121 -1.23259677674915 614620 yes 4 9.9140e-24 9.1377e-18 1.0 1A (cf Gene_count, RE_gene, +0.00);2A (cf P_gain_source, +1.00);2I-3 (IFT140, +0.00);3A (1 gene, +0.00);5F (+0.00) 5 16_1565630_1571297_DUP_1 16 1565630 1571297 5667 DUP IFT140 tandem duplication Pathogenic NA split p13.3 IFT140 NM_014714 4 1560427 1662073 5668 729 16 no 31 intron26-intron30 CDS 488 3' 1565629 1571297 dbVar:nssv17973053 16:1568198-1570829 dbVar:nssv16208781 16:1568218-1570809 13 Jeune_thoracic_dystrophy;Retinal_dystrophy;Retinitis_pigmentosa;Retinitis_pigmentosa_80;Saldino-Mainzer_syndrome 30 69.24 -1.52736818830718 -0.448946429663129 -0.844654865976432 -0.922111894578121 -1.23259677674915 IFT140-related recessive ciliopathy;Jeune syndrome;Leber congenital amaurosis;autosomal dominant polycystic kidney disease;retinitis pigmentosa;retinitis pigmentosa 80;short-rib thoracic dysplasia 9 with or without polydactyly AD;AR Definitive;Strong;Supportive 154653;22503633;22503633[PMID];22503633[PMID]_23418020[PMID]_24009529[PMID];23418020;24009529;26216056;26216056[PMID];26968735;30479745;31034313 9742 614620 Retinitis pigmentosa 80, 617781 (3) AR;Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3) AR AR yes 4 9.9140e-24 9.1377e-18 full=5 17_14100119_15442066_DUP_1 17 14100119 15442066 1341947 DUP PMP22 (CMT1A) Pathogenic NA full p12 COX10;CDRT15;HS3ST3B1;MGC12916;CDRT7;LOC101928475;CDRT8;PMP22;MIR4731;TEKT3;CDRT4;TVP23C-CDRT4;CDRT3;TVP23C COX10-DT FBXW10B 14 ABCG8 (morbid/RE=mTL_miRNA);ACBD5 (morbid/RE=mTL_miRNA);ACVRL1 (HI=3/morbid/RE=mTL_miRNA);AMH (morbid/RE=mTL_miRNA);ANKS6 (morbid/RE=mTL_miRNA);ATL3 (morbid/RE=mTL_miRNA);ATP9A (morbid/RE=mTL_miRNA);CABP4 (morbid/RE=mTL_miRNA);CACNA1C (morbid/RE=mTL_miRNA);CAVIN1 (morbid/RE=mTL_miRNA);CD4 (morbid/RE=mTL_miRNA);CDT1 (morbid/RE=mTL_miRNA);CEP104 (morbid/RE=mTL_miRNA);CHD7 (HI=3/morbid/RE=mTL_miRNA);CHEK1 (morbid/RE=mTL_miRNA);CHST6 (morbid/RE=mTL_miRNA);CISD2 (morbid/RE=mTL_miRNA);CPT1A (morbid/RE=mTL_miRNA);CREB1 (morbid/RE=mTL_miRNA);CRIPT (morbid/RE=mTL_miRNA);CYB5A (morbid/RE=mTL_miRNA);CYCS (morbid/RE=mTL_miRNA);DNAJB13 (morbid/RE=mTL_miRNA);DNAJB4 (morbid/RE=mTL_miRNA);DNAL1 (morbid/RE=mTL_miRNA);DPP9 (morbid/RE=mTL_miRNA);EIF2B2 (morbid/RE=mTL_miRNA);ELAC2 (morbid/RE=ABC_enhancer);EMC1 (morbid/RE=mTL_miRNA);FANCA (morbid/RE=mTL_miRNA);GAN (morbid/RE=mTL_miRNA);GATAD2B (HI=3/morbid/RE=mTL_miRNA);GNB5 (morbid/RE=mTL_miRNA);GOLGA2 (morbid/RE=mTL_miRNA);GPRC5B (morbid/RE=mTL_miRNA);HCFC1 (morbid/RE=mTL_miRNA);HCN4 (morbid/RE=mTL_miRNA);HFE (morbid/RE=mTL_miRNA);IKBKG (HI=3/morbid/RE=mTL_miRNA);IRAK4 (morbid/RE=mTL_miRNA);ISCA2 (morbid/RE=mTL_miRNA);KCND3 (morbid/RE=mTL_miRNA);KCNH2 (HI=3/morbid/RE=mTL_miRNA);KDM6B (morbid/RE=mTL_miRNA);KIAA1549 (morbid/RE=mTL_miRNA);LDHD (morbid/RE=mTL_miRNA);LIAS (morbid/RE=mTL_miRNA);LNPK (morbid/RE=mTL_miRNA);LRTOMT (morbid/RE=mTL_miRNA);LYN (morbid/RE=mTL_miRNA)... dbVar:nssv15123319;nssv18792872;dbVar:nssv15123460;dbVar:nssv15124534;dbVar:nssv15130870;dbVar:nssv15132574;nssv15139980;nssv16091758;dbVar:nssv15143888;dbVar:nssv15144711;dbVar:nssv15605910;dbVar:nssv15770494;dbVar:nssv15770609;dbVar:nssv15770794;dbVar:nssv16216948;dbVar:nssv17171394;dbVar:nssv17171395;dbVar:nssv17171396;dbVar:nssv17517518;dbVar:nssv17968761;dbVar:nssv17971796;dbVar:nssv18788963 17:14104013-15422557;17:14111773-15442066;17:14139890-15406546;17:14413313-15169915;17:15036413-15036413;17:15132095-15169674;17:15133085-15164054;17:15133095-15164078;17:15133097-15165152;17:15133098-15164054;17:15133961-15169915;17:15134215-15162530;17:15134215-15164064;17:15134229-15164050;17:15134234-15164044;17:15134235-15164044;17:15142769-15164064;17:15142779-15164054;17:15162412-15406546 ?Neuropathy, inflammatory demyelinating, 139393 (3) ?AD;Charcot-Marie-Tooth disease, type 1A, 118220 (3) AD;Charcot-Marie-Tooth disease, type 1E, 118300 (3) AD;Dejerine-Sottas disease, 145900 (3) AR,AD;Neuropathy, recurrent, with pressure palsies, 162500 (3) AD;Roussy-Levy syndrome, 180800 (3) AD;Spermatogenic failure 81, 620277 (3) AR HI3:PMP22;dbVar:nssv15119700;nssv15120161;dbVar:nssv15123358;dbVar:nssv15124100;dbVar:nssv15124536;dbVar:nssv15130148;nssv15131578;dbVar:nssv15131641;dbVar:nssv15132056;dbVar:nssv15133540;dbVar:nssv15152434;dbVar:nssv15605873;dbVar:nssv15770639;dbVar:nssv16212046;dbVar:nssv16213644;dbVar:nssv17171685;dbVar:nssv17171686;dbVar:nssv17171687;dbVar:nssv17517519;dbVar:nssv17968760;dbVar:nssv17971249;dbVar:nssv17971279;dbVar:nssv17972656;dbVar:nssv17974454;dbVar:nssv17974892;dbVar:nssv18788962;morbid:PMP22;morbid:TEKT3 17:14110044-14111913;17:14111773-15442066;17:14128551-15422557;17:14139890-15142928;17:14215740-15422582;17:14763747-15242181;17:15133085-15134407;17:15133085-15142938;17:15133085-15164054;17:15133095-15164078;17:15133095-15168690;17:15133098-15164054;17:15133961-15169915;17:15134215-15164064;17:15134234-15164044;17:15134235-15164044;17:15138536-15168643;17:15142769-15142948;17:15142779-15142938;17:15142779-15164054;17:15142930-15164044;17:15152792-15162532;17:15162392-15164044;17:15162402-15162520;17:15162402-15162523;17:15162402-15164054;17:15207129-15244914 17p12 recurrent (HNPP/CMT1A) region (includes PMP22) dbVar:nssv15148946;dbVar:nssv15150353;dbVar:nssv15149908;nssv15152170;dbVar:nssv15159024;dbVar:nssv15160732;dbVar:nssv15159027;dbVar:nssv15121114;dbVar:nssv17976715;dbVar:nssv15133502;dbVar:nssv15605908;dbVar:nssv17955950;dbVar:nssv18330199;dbVar:nssv15127850;dbVar:nssv15155527;dbVar:nssv18330563;dbVar:nssv16215327;dbVar:nssv15152221;dbVar:nssv15155528;dbVar:nssv15152212;dbVar:nssv15151828;dbVar:nssv15138362;dbVar:nssv18330766;dbVar:nssv15152433;dbVar:nssv15141972;dbVar:nssv15137438;dbVar:nssv15138198;dbVar:nssv15151261;dbVar:nssv15152245;dbVar:nssv15139258;nssv15130449;dbVar:nssv18329572;dbVar:nssv18330190;dbVar:nssv18330250;dbVar:nssv18329615;dbVar:nssv15133504;dbVar:nssv15138548;dbVar:nssv15133503;dbVar:nssv17976450;dbVar:nssv18842067;dbVar:nssv18792739;dbVar:nssv18792799;dbVar:nssv17955866;TS3:ISCA-37436;dbVar:nssv17649964;dbVar:nssv15123339;dbVar:nssv15141042;dbVar:nssv15122626;dbVar:nssv16867389;dbVar:nssv15140957;dbVar:nssv15141757;dbVar:nssv15123522;dbVar:nssv15159072;dbVar:nssv15605912;dbVar:nssv15137903;dbVar:nssv15123444;dbVar:nssv16207305;dbVar:nssv15136705;dbVar:nssv15134920;dbVar:nssv15132415;dbVar:nssv15133505 17:526-14667519;17:526-15027737;17:527-81041938;17:7215-81058310;17:8548-81060040;17:12345-81057996;17:10795577-17867596;17:11819315-17795978;17:14029614-15562901;17:14063252-15449627;17:14073285-15442296;17:14073564-15479923;17:14073604-15482773;17:14076431-15491532;17:14078284-15479940;17:14079631-15370444;17:14083055-15463054;17:14083055-15479940;17:14083055-15491532;17:14083055-15491533;17:14083055-15567669;17:14083056-15483608;17:14085653-15512120;17:14087934-15437330;17:14087934-15484358;17:14087934-15484858;17:14087934-15490100;17:14087934-15491532;17:14087934-15500645;17:14087935-15479940;17:14087935-15483608;17:14087935-15484358;17:14087935-15484630;17:14090301-15467184;17:14090301-15473590;17:14090301-15482240;17:14093319-15476314;17:14095257-15492591;17:14095307-15466762;17:14095307-15472344;17:14096090-15492591;17:14097916-15422952;17:14098197-15442500;17:14098278-15471179;17:14098661-15501133;17:14099743-15471179;17:14100119-15455297;17:14100119-15458649;17:14100119-15492400;17:14100119-15492444;17:14101030-15504740;17:14105875-15611546;17:14111773-15482872;17:14139858-15707850;17:14195643-15545880;17:15093601-15856310;17:15113718-18184130;17:15138003-20524013;17:15162482-20828612 3.87;6.17;1.66;1.66;1.66;1.66;18.98;22.45;87.52;96.80;98.02;95.42;95.23;94.83;95.74;98.41;97.24;96.07;95.28;95.28;90.39;95.82;94.07;99.10;96.10;96.06;95.71;95.61;94.99;96.40;96.15;96.10;96.08;97.46;97.01;96.41;97.03;96.04;97.85;97.45;96.09;99.83;99.82;97.75;95.68;97.85;99.02;98.78;96.38;96.38;95.54;88.74;97.02;83.05;92.31;45.69;10.69;5.65;4.93 17p12 recurrent (HNPP/CMT1A) region (includes PMP22);Mitochondrial complex IV deficiency, nuclear type 3, 619046 (3) AR morbid:COX10;dbVar:nssv15129689;dbVar:nssv17976967;dbVar:nssv18330114;dbVar:nssv15145216;dbVar:nssv18330761;dbVar:nssv15138335;dbVar:nssv18330252;dbVar:nssv15145035;dbVar:nssv15141682;dbVar:nssv15141099;dbVar:nssv15138794;dbVar:nssv18330872;dbVar:nssv15137498;nssv15155529;dbVar:nssv15137504;dbVar:nssv18330269;dbVar:nssv18842062;dbVar:nssv15141647;HI3:ISCA-37436;dbVar:nssv18330706;dbVar:nssv15150275;dbVar:nssv15129116;dbVar:nssv15123772;dbVar:nssv15141918;dbVar:nssv15159071;nssv15605909;dbVar:nssv15123331;dbVar:nssv15605911;dbVar:nssv18786371;dbVar:nssv15605913;dbVar:nssv16255829;dbVar:nssv15136096;dbVar:nssv15136245;dbVar:nssv15126994;dbVar:nssv15134560;dbVar:nssv15137984 17:13972821-14111994;17:14073604-15482773;17:14076990-15473312;17:14077820-15491532;17:14082226-15421861;17:14082946-15484858;17:14083055-15475087;17:14083056-15484859;17:14086859-15476561;17:14087788-15473312;17:14087788-15483608;17:14087788-15490100;17:14087789-15484858;17:14087934-15484858;17:14087934-15491532;17:14087935-15491532;17:14095257-15477547;17:14095640-15274712;17:14097916-15422952;17:14098248-15475654;17:14098661-15500645;17:14098787-15495266;17:14099743-15471179;17:14100119-15455238;17:14101030-15449627;17:14101030-15482817;17:14104013-15551814;17:14110128-15472344;17:14110452-15449097;17:14111755-15442178;17:14111773-15482872;17:14111773-15491748;17:14112032-15482773;17:14574436-15856310;17:14970117-17375771 8.53;95.23;96.11;94.92;98.66;95.72;96.40;95.73;96.56;96.85;96.14;95.70;96.05;96.06;95.61;95.61;97.08;99.62;99.83;97.43;95.72;96.10;97.85;99.03;99.44;97.05;92.42;97.78;99.47;99.99;97.02;96.40;97.03;67.68;19.62 52 Charcot-Marie-Tooth_disease;Charcot-Marie-Tooth_disease,_type_I;Charcot-Marie-Tooth_disease,_type_IA;Charcot-Marie-Tooth_disease_type_1E;Charcot-Marie-Tooth_disease_type_2E;Cytochrome-c_oxidase_deficiency_disease;Dejerine-Sottas_disease;Dejerine-Sottas_syndrome,_autosomal_dominant;Hereditary_liability_to_pressure_palsies;Inborn_genetic_diseases;Mitochondrial_complex_4_deficiency,_nuclear_type_3;Roussy-Lévy_syndrome dbVar chr17:14096997-15486650 0.01 dbVar chr17:14093499-15486000 0.01 chr17:14126839-14220873 dbVar;17:14191081-14191901 DDD:48801;chr17:14194000-14199000 dbVar;chr17:14224374-14483419 dbVar;17:14224375-14483419 esv3640026;chr17:14256910-14257055 dbVar;chr17:14298872-14298951 dbVar;chr17:14334186-14339815 dbVar;chr17:14447875-14456539 dbVar;chr17:14668589-15084842 dbVar;17:14668590-15084842 esv3640046;chr17:14685229-14700196 dbVar;chr17:15028960-15030846 dbVar;chr17:15133798-15197525 dbVar;chr17:15287341-15482010 dbVar;chr17:15332787-15332860 dbVar; chr17:14096997-15486650 dbVar;chr17:14159542-14160385 dbVar;17:14191081-14198547 DDD:48802;chr17:14216314-14217439 dbVar;17:14224375-14483419 1000g;chr17:14241867-14248195 dbVar;chr17:14284612-14628667 dbVar;chr17:14300914-14367997 dbVar;chr17:14386097-14390355 dbVar;chr17:14489639-14632921 dbVar;17:14668590-15084842 1000g;chr17:14670267-14671370 dbVar;chr17:14767901-14773352 dbVar;chr17:15118923-15125291 dbVar;chr17:15151620-15151916 dbVar;chr17:15323152-15369177 dbVar;chr17:15439000-15444000 dbVar chr17:14096682-14108514 dbVar;chr17:14126839-14220873 dbVar;chr17:14155625-14155942 dbVar;chr17:14189910-14191555 dbVar;17:14189911-14191555 DDD:48799;17:14189911-14191555 esv2665541;17:14189911-14191557 1000g;17:14189912-14191555 IMH;17:14191081-14191901 DDD:48801;chr17:14220258-14221199 dbVar;17:14240918-14242023 DDD:48803;17:14240923-14242032 1000g;17:14240941-14242023 IMH;chr17:14241867-14248195 dbVar;chr17:14269249-14271950 dbVar;chr17:14277792-14278679 dbVar;chr17:14300414-14308117 dbVar;chr17:14314642-14320048 dbVar;chr17:14315900-14328444 dbVar;17:14332272-14332576 gnomAD-SV_v2.1_DEL_17_158748... chr17:14093499-15486000 dbVar;chr17:14105499-14108091 dbVar;chr17:14132469-14133456 dbVar;chr17:14186324-14196555 dbVar;chr17:14189910-14191557 dbVar;chr17:14189911-14191555 dbVar;17:14189911-14191555 gnomAD-SV_v2.1_DEL_17_158736;17:14189911-14191557 esv3640023;17:14190834-14191460 nsv574421;chr17:14210420-14210623 dbVar;chr17:14224374-14483419 dbVar;chr17:14240922-14242032 dbVar;17:14240923-14242032 esv3640027;chr17:14240941-14242023 dbVar;chr17:14256280-14258428 dbVar;chr17:14272755-14288592 dbVar;chr17:14284612-14628667 dbVar;chr17:14300914-14367997 dbVar;chr17:14314678-14320063 dbVar;chr17:14332272-14332576 dbVar... 557088;527329;960663;960664;271780;2830900;301045;262086;573463;591221;586955;271781;581715;527330;468582;482431;573464;531792;306277;570216;937731;271782;162997;826587;816488;787511;784668;811329;831423;864749;823089;2560430;815034;813495;809567;835854;40950;162998;288724;470190;429012;345937;271783;304081;826588;59114;782435;984637;470191;429013;1070158;... loss;gain 0.505 0.420 17:15422954-15470900 3 96.58 -2.62354415217069 -0.276965016632095 -1.64032033771268 3.6772325764896 4.17517843763452 602125;601097;612683 yes yes 1 9.0958e-01 8.3315e-01 1.0 1A (cf Gene_count, RE_gene, +0.00);2A (cf P_gain_source, +1.00);2H-2 (PMP22/TEKT3, +0.00);2J (COX10, +0.00);2L (TVP23C/TVP23C-CDRT4, +0.00);3A (14 genes, +0.00);5F (+0.00) 5 -17_14100119_15442066_DUP_1 17 14100119 15442066 1341947 DUP PMP22 (CMT1A) Pathogenic NA split p12 COX10 NM_001303 4 13972820 14111994 11876 404 30 yes 7 intron6-txEnd CDS-3'UTR 4580 5' 14100118 14111994 dbVar:nssv15124536 17:14110044-14111913 1 Cytochrome-c_oxidase_deficiency_disease;Mitochondrial_complex_4_deficiency,_nuclear_type_3 dbVar chr17:14096997-15486650 0.01 dbVar chr17:14093499-15486000 0.01 30 60.22 -2.62354415217069 -2.20885612270982 -2.47162789907313 0.16322796385632 0.511864222455301 Leigh syndrome;cytochrome-c oxidase deficiency disease;mitochondrial complex 4 deficiency, nuclear type 3;mitochondrial disease AR Definitive;Moderate;Strong;Supportive 10767350;10767350[PMID]_12928484[PMID]_15455402[PMID];12928484;15455402;16103131;22622581;24100867 1352 602125 Mitochondrial complex IV deficiency, nuclear type 3, 619046 (3) AR AR yes 3 8.4050e-02 6.4657e-01 full=5 +17_14100119_15442066_DUP_1 17 14100119 15442066 1341947 DUP PMP22 (CMT1A) Pathogenic NA split p12 COX10 NM_001303 4 13972820 14111994 11876 404 30 yes 7 intron6-txEnd CDS-3'UTR 4580 5' 14100118 14111994 dbVar:nssv15124536 17:14110044-14111913 1 Cytochrome-c_oxidase_deficiency_disease;Mitochondrial_complex_4_deficiency,_nuclear_type_3 dbVar chr17:14096997-15486650 0.01 dbVar chr17:14093499-15486000 0.01 30 60.22 -2.62354415217069 -2.20885612270982 -2.47162789907313 0.16322796385632 0.511864222455301 Leigh syndrome;cytochrome-c oxidase deficiency disease;mitochondrial complex 4 deficiency, nuclear type 3 AR Definitive;Moderate;Strong;Supportive 10767350;10767350[PMID]_12928484[PMID]_15455402[PMID];12928484;15455402;16103131;22622581;24100867 1352 602125 Mitochondrial complex IV deficiency, nuclear type 3, 619046 (3) AR AR yes 3 8.4050e-02 6.4657e-01 full=5 17_14100119_15442066_DUP_1 17 14100119 15442066 1341947 DUP PMP22 (CMT1A) Pathogenic NA split p12 CDRT15 NM_001007530 3 14138989 14140179 1190 567 100 no 3 txStart-txEnd 5'UTR-3'UTR 14138989 14140179 dbVar chr17:14096997-15486650;chr17:14126839-14220873 0.01 dbVar chr17:14093499-15486000;chr17:14126839-14220873 0.01 96.58 -2.62354415217069 -2.20416703243077 -2.47162789907313 1.67462394349301 1.73432863871862 146822 9 1.2820e-06 7.5064e-03 full=5 17_14100119_15442066_DUP_1 17 14100119 15442066 1341947 DUP PMP22 (CMT1A) Pathogenic NA split p12 HS3ST3B1 NM_006041 3 14204397 14252721 48324 1173 100 no 2 txStart-txEnd 5'UTR-3'UTR 14204397 14252721 dbVar chr17:14096997-15486650 0.01 dbVar chr17:14093499-15486000 0.01 288724;470190;429012;271783;1070158 loss;gain 42.95 -2.62354415217069 -0.276965016632095 -1.64032033771268 3.6772325764896 4.17517843763452 9953 4 2.9349e-01 8.5455e-02 full=5 17_14100119_15442066_DUP_1 17 14100119 15442066 1341947 DUP PMP22 (CMT1A) Pathogenic NA split p12 MGC12916 NR_026880 1 14207056 14209062 2006 0 0 no 1 txStart-txEnd UTR 14207056 14209062 dbVar chr17:14096997-15486650;chr17:14126839-14220873 0.01 dbVar chr17:14093499-15486000;chr17:14126839-14220873 0.01 full=5 @@ -320,7 +320,7 @@ AnnotSV_ID SV_chrom SV_start SV_end SV_length SV_type Biologist_annotation Biolo 6_29854871_29896710_DEL_1 6 29854871 29896710 -41839 DEL Benign NA split p22.1 HLA-H NR_001434 4 29855349 29858856 3507 0 0 no 8 txStart-txEnd UTR 29855349 29858856 morbid:HLA-H 6:29855350-29858856 DDD:20149;IMH;dbVar 6:29698616-29950994;6:29722846-29947201;6:29723410-29948590;6:29733227-29961287;6:29760864-29916953;6:29762617-29919277;6:29767291-29923611;6:29767394-29923982;6:29769716-29865367;6:29771866-29927541;6:29773145-29867669;6:29777143-29871794;6:29778441-29873573;chr6:29833263-29905667;6:29840747-29917149 0.1073 1000g;DDD:20139;DDD:20142;DDD:20149;DDD:20154;IMH;dbVar;dgv1087e199;dgv1726e212;dgv7e195;esv2422126;esv2761013;esv2763941;esv3608493 6:29745199-29961072;6:29805446-29928380;6:29829109-29874629;6:29836637-29921127;6:29837073-29937311;6:29840747-29917149;6:29842746-29916111;6:29851122-29905999;chr6:29851172-29904515;6:29851173-29904515;6:29851173-29904515;6:29851444-29865718;6:29851444-29899493;6:29853315-29914786 0.4519 IMH 6:26743912-58149585;6:26745294-58149309 0.3871 3077 yes full=5 6_29854871_29896710_DEL_1 6 29854871 29896710 -41839 DEL Benign NA split p22.1 HCG4B NR_001317 3 29892368 29894992 2624 0 0 no 1 txStart-txEnd UTR 29892368 29894992 DDD:20149;IMH;dbVar 6:29698616-29950994;6:29722846-29947201;6:29723410-29948590;6:29733227-29961287;6:29760864-29916953;6:29762617-29919277;6:29767291-29923611;6:29767394-29923982;6:29771866-29927541;chr6:29833263-29905667;6:29840747-29917149 0.1073 1000g;DDD:20139;DDD:20142;DDD:20149;DDD:20154;DDD:20157;IMH;dbVar;dgv1087e199;dgv1089e199;dgv1734e212;dgv7e195;esv2761013;esv2763941;esv3608493 6:29745199-29961072;6:29805446-29928380;6:29836637-29921127;6:29837073-29937311;6:29840747-29917149;6:29842746-29916111;6:29851122-29905999;chr6:29851172-29904515;6:29851173-29904515;6:29851173-29904515;6:29851444-29899493;6:29853315-29914786;6:29861152-29916006;6:29864510-29936194;6:29890896-29906192;6:29891102-29906000 0.4519 IMH 6:26743912-58149585;6:26745294-58149309 0.3871 80868 full=5 8_56986130_57169684_DEL_1 8 56986130 57169684 -183554 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA full q12.1 RPS20;SNORD54;CERNA3;MOS;PLAG1;CHCHD7 SNORA1B SDR16C5 6 LYN (morbid/RE=ABC_enhancer+EA_enhancer+GH_enhancer+GH_promoter_enhancer) Adenomas, salivary gland pleomorphic, somatic, 181030 (3);Silver-Russell syndrome 4, 618907 (3) AD;Oocyte;zygote;embryo maturation arrest 20, 620383 (3) AR morbid:MOS;morbid:PLAG1 8:57025501-57026541;8:57073468-57123832 dbVar:nssv15169207;dbVar:nssv15128680;dbVar:nssv15161801;nssv15777239;nssv17976962;dbVar:nssv15161417;nssv15161657;dbVar:nssv15161846;dbVar:nssv15169210;dbVar:nssv15161105;dbVar:nssv15161269;dbVar:nssv15161748;dbVar:nssv15161087;dbVar:nssv15161426;dbVar:nssv15161357;dbVar:nssv15777249;dbVar:nssv15147495;dbVar:nssv15774700;dbVar:nssv15161758;dbVar:nssv15161797;dbVar:nssv15139743;dbVar:nssv15135704 8:10214-146293414;8:13939-146304022;8:158049-146295771;8:158050-146295771;8:158992-146280828;8:164985-146293414;8:176453-146294098;8:191531-146274835;8:191531-146280020;8:191606-146280167;8:12491000-146295771;8:21149034-146295771;8:31936552-146295771;8:36437622-60531557;8:39555658-64049089;8:46942957-70216022;8:46942963-140297737;8:53436132-65195953;8:56228415-65864987 0.13;0.13;0.13;0.13;0.13;0.13;0.13;0.13;0.13;0.13;0.14;0.15;0.16;0.76;0.75;0.79;0.20;1.56;1.90 dbVar:nssv15167540;dbVar:nssv15148967;dbVar:nssv15138741;dbVar:nssv15125104;dbVar:nssv15137960;dbVar:nssv15137390;dbVar:nssv15121489;dbVar:nssv15124419 8:49822484-58822602;8:50384338-58738029;8:54237950-62775577;8:54407102-58403572;8:55677511-57697858;8:55733918-62058861;8:56335974-59749312;8:56405321-57358911 2.04;2.20;2.15;4.59;9.09;2.90;5.38;19.25 8:57048633-57098412 1000g;chr8:57153249-57153357 dbVar; chr8:57048632-57098412 dbVar;chr8:57048719-57098544 dbVar;chr8:57161314-57168512 dbVar chr8:56988070-56988448 dbVar;8:56988698-56989817 1000g;8:56988746-56989825 DDD:27790;chr8:56988762-56997935 dbVar;chr8:57005850-57007074 dbVar;chr8:57059737-57063078 dbVar;chr8:57160128-57168353 dbVar;chr8:57161314-57168512 dbVar chr8:56988017-57000275 dbVar;chr8:56988697-56989817 dbVar;chr8:56988709-56997905 dbVar;chr8:56988754-56989776 dbVar;8:56988763-56997935 1000g;chr8:57047231-57047490 dbVar;chr8:57154268-57155609 dbVar;chr8:57161113-57168156 dbVar 848459;394952;394953;395216;227414;227459;534473;534774;534866;302857;580548;575671;484667;558558;471349;469505;335198;335303;335354;376852;376955;376962;376972;376977;564747;681488;259626;589430;571930;312032;312165;312226;312239;302858;303092;303101;303169;303182;303196;303201;280931;777179;855820;280932;282047;282072 loss;gain 0.410 0.330 8:57169736-57169990 AluSz6 78.38 0.98432298330431 0.46663829854876 0.586548999968454 2.2343517715388 2.48184869967673 190060;603026 yes 0 9.9532e-01 8.2992e-01 1.0 1A (cf Gene_count, RE_gene, +0.00);2A (cf P_loss_source, +1.00);3A (6 genes, +0.00);5F (+0.00) 5 -8_56986130_57169684_DEL_1 8 56986130 57169684 -183554 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split q12.1 RPS20 NM_001146227 3 56979812 56987065 936 177 41 no 6 txStart-intron3 5'UTR-CDS 124 5' 56986129 56987065 29.1 0.98432298330431 -0.0464637247715686 0.36681079114905 -0.0133102053832282 2.09183372030708 Diamond-Blackfan anemia;Lynch syndrome;familial colorectal cancer type X;hereditary nonpolyposis colon cancer AD Limited;Supportive 24941021[PMID];32790018[PMID] 6224 5 2.0686e-02 6.8632e-01 full=5 +8_56986130_57169684_DEL_1 8 56986130 57169684 -183554 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split q12.1 RPS20 NM_001146227 3 56979812 56987065 936 177 41 no 6 txStart-intron3 5'UTR-CDS 124 5' 56986129 56987065 29.1 0.98432298330431 -0.0464637247715686 0.36681079114905 -0.0133102053832282 2.09183372030708 Diamond-Blackfan anemia;familial colorectal cancer type X;hereditary nonpolyposis colon cancer AD Limited;Supportive 24941021[PMID];32790018[PMID] 6224 5 2.0686e-02 6.8632e-01 full=5 8_56986130_57169684_DEL_1 8 56986130 57169684 -183554 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split q12.1 SNORD54 NR_002437 1 56986397 56986460 63 0 0 no 1 txStart-txEnd UTR 56986397 56986460 26795 full=5 8_56986130_57169684_DEL_1 8 56986130 57169684 -183554 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split q12.1 CERNA3 NR_149110 1 56987150 56987833 683 0 0 no 2 txStart-txEnd UTR 56987150 56987833 105375847 full=5 8_56986130_57169684_DEL_1 8 56986130 57169684 -183554 DEL VOUS in 2017, reclassified in 2020 Pathogenic NA split q12.1 MOS NM_005372 1 57025500 57026541 1041 1041 100 no 1 txStart-txEnd 5'UTR-3'UTR 57025500 57026541 Oocyte;zygote;embryo maturation arrest 20, 620383 (3) AR morbid:MOS 8:57025501-57026541 78.38 0.159444434408663 0.46663829854876 0.524682444320288 2.2343517715388 2.48184869967673 oocyte/zygote/embryo maturation arrest 20 Limited 34779126;34997960;35670744 55034 190060 Oocyte/zygote/embryo maturation arrest 20, 620383 (3) AR AR yes 3 5.8928e-01 1.4931e-01 full=5 @@ -337,10 +337,10 @@ X_53250654_53856257_DUP_1 X 53250654 53856257 605603 DUP HUWE1 Pathogenic NA spl X_53250654_53856257_DUP_1 X 53250654 53856257 605603 DUP HUWE1 Pathogenic NA split p11.22 MIR98 NR_029513 1 53583183 53583302 119 0 0 no 1 txStart-txEnd UTR 53583183 53583302 dbVar chrX:53552999-53623500 0.01 IMH X:46769178-84009828 0.1280 407054 full=5 X_53250654_53856257_DUP_1 X 53250654 53856257 605603 DUP HUWE1 Pathogenic NA split p11.22 MIRLET7F2 NR_029484 1 53584152 53584235 83 0 0 no 1 txStart-txEnd UTR 53584152 53584235 dbVar chrX:53552999-53623500 0.01 IMH X:46769178-84009828 0.1280 406889 full=5 11_66287089_66288847_DEL_1 11 66287089 66288847 -1758 DEL BBS1 internal frameshift Pathogenic NA full q13.2 BBS1;ZDHHC24 DPP3 ACTN3 2 BANF1 (morbid/RE=EA_enhancer);C11orf80 (morbid/RE=EA_enhancer);CATSPER1 (morbid/RE=EA_enhancer);CTSF (morbid/RE=EA_enhancer);FIBP (morbid/RE=EA_enhancer);KLC2 (morbid/RE=EA_enhancer);PACS1 (morbid/RE=EA_enhancer);PC (morbid/RE=EA_enhancer);SF3B2 (morbid/RE=EA_enhancer);SPTBN2 (morbid/RE=EA_enhancer);TMEM151A (morbid/RE=EA_enhancer) dbVar:nssv15171978;dbVar:nssv15158476;dbVar:nssv15150306;nssv15150623;dbVar:nssv17976763;dbVar:nssv15150659;dbVar:nssv15605814;dbVar:nssv15146474;dbVar:nssv17973682 11:70865-134938470;11:198511-134934063;11:230617-134938470;11:32799482-134938470;11:64501920-67129258;11:65138977-67574402;11:65960974-67658241;11:66281868-66288857 0.00;0.00;0.00;0.00;0.07;0.07;0.10;25.16 Bardet-Biedl syndrome 1, 209900 (3) Digenic recessive,AR dbVar:nssv16867095;dbVar:nssv15148225;dbVar:nssv15129970;dbVar:nssv18792809;morbid:BBS1;dbVar:nssv16214536;dbVar:nssv17171795;dbVar:nssv16212285;dbVar:nssv17976607;dbVar:nssv17974991;dbVar:nssv17172605;dbVar:nssv16212781;dbVar:nssv18787680;dbVar:nssv15128612;dbVar:nssv17172606 11:11835570-118373112;11:65508903-67473140;11:66274841-66292574;11:66274871-66292647;11:66278106-66301069;11:66278112-66291373;11:66278112-66299528;11:66278122-66291682;11:66278712-66293593;11:66283002-66287229;11:66283155-66287229;11:66287079-66288857;11:66287079-66291105;11:66288384-66293649;11:66288722-66293683 0.00;0.09;9.92;9.89;7.66;13.26;8.21;12.97;11.82;3.33;3.46;98.88;43.68;8.81;2.54 11 BBS1-related_condition;Bardet-Biedl_syndrome;Bardet-Biedl_syndrome_1;Retinal_dystrophy IMH 11:1642920-71249653;11:49233128-89368291;11:49425032-89029881;11:49425381-89029675;11:49580506-88798755;11:49652145-88728247;11:50025478-108975588 0.4320 chr11:66272212-66288041 dbVar 0.565 0.545 67.28 -0.648300458519823 0.663432885116562 0.155145712015149 0.635599914039232 1.04727080312339 209901 yes 5 4.2080e-04 6.1403e-03 0.9 1A (cf Gene_count, RE_gene, +0.00);2E-1 (BBS1, +0.90);3A (2 genes, +0.00);5F (+0.00) 4 -11_66287089_66288847_DEL_1 11 66287089 66288847 -1758 DEL BBS1 internal frameshift Pathogenic NA split q13.2 BBS1 NM_024649 5 66278105 66301069 1759 238 13 yes 17 exon8-intron9 CDS 0 5' 66287088 66288847 11 BBS1-related_condition;Bardet-Biedl_syndrome;Bardet-Biedl_syndrome_1;Retinal_dystrophy IMH 11:1642920-71249653;11:49233128-89368291;11:49425032-89029881;11:49425381-89029675;11:49580506-88798755;11:49652145-88728247;11:50025478-108975588 0.4320 40.7 -0.648300458519823 0.663432885116562 0.155145712015149 0.0819191978639822 0.0377121632347663 Bardet-Biedl syndrome;Bardet-Biedl syndrome 1;ciliopathy AR Definitive;Strong;Supportive 10577921;10577922;12118255;12524598;12837689;18032602;20177705;20301537[PMID];20498079;23143442 582 209901 Bardet-Biedl syndrome 1, 209900 (3) Digenic recessive,AR Digenic recessive,AR yes 5 3.4063e-12 1.7787e-07 full=4 +11_66287089_66288847_DEL_1 11 66287089 66288847 -1758 DEL BBS1 internal frameshift Pathogenic NA split q13.2 BBS1 NM_024649 5 66278105 66301069 1759 238 13 yes 17 exon8-intron9 CDS 0 5' 66287088 66288847 11 BBS1-related_condition;Bardet-Biedl_syndrome;Bardet-Biedl_syndrome_1;Retinal_dystrophy IMH 11:1642920-71249653;11:49233128-89368291;11:49425032-89029881;11:49425381-89029675;11:49580506-88798755;11:49652145-88728247;11:50025478-108975588 0.4320 40.7 -0.648300458519823 0.663432885116562 0.155145712015149 0.0819191978639822 0.0377121632347663 Bardet-Biedl syndrome;Bardet-Biedl syndrome 1 AR Definitive;Strong;Supportive 10577921;10577922;12118255;12524598;12837689;18032602;20177705;20301537[PMID];20498079;23143442 582 209901 Bardet-Biedl syndrome 1, 209900 (3) Digenic recessive,AR Digenic recessive,AR yes 5 3.4063e-12 1.7787e-07 full=4 11_66287089_66288847_DEL_1 11 66287089 66288847 -1758 DEL BBS1 internal frameshift Pathogenic NA split q13.2 ZDHHC24 NM_001348571 2 66288095 66313519 752 0 0 no 5 exon5-txEnd 3'UTR 90 3' 66288095 66288847 4 BBS1-related_condition;Bardet-Biedl_syndrome;Bardet-Biedl_syndrome_1;Retinal_dystrophy IMH 11:1642920-71249653;11:49233128-89368291;11:49425032-89029881;11:49425381-89029675;11:49580506-88798755;11:49652145-88728247;11:50025478-108975588 0.4320 67.28 -1.23986898178133 0.616417349113344 -0.188374414893838 0.635599914039232 1.04727080312339 254359 7 4.2080e-04 6.1403e-03 full=4 7_33397468_33397607_DEL_1 7 33397468 33397607 -139 DEL BBS9 inframe Pathogenic NA full p14.3 BBS9 RP9 FLJ20712 1 dbVar:nssv15777247;dbVar:nssv15168013;dbVar:nssv15161666;nssv15161679;dbVar:nssv15168014;dbVar:nssv15161745;dbVar:nssv15161726;dbVar:nssv17970196;dbVar:nssv15161869;dbVar:nssv15161632;dbVar:nssv17970205;dbVar:nssv15133397;dbVar:nssv15154527;dbVar:nssv15146465 7:10366-159119707;7:10705-159122532;7:43362-159119707;7:44936-159126310;7:54186-37129317;7:54186-41915483;7:10745751-35305167;7:11048841-52863626;7:11562625-36395416;7:27507833-39072473;7:30460550-34600277;7:30463887-43470805;7:33367925-61831899 0.00;0.00;0.00;0.00;0.00;0.00;0.00;0.00;0.00;0.00;0.00;0.00;0.00 Bardet-Biedl syndrome 9, 615986 (3) AR dbVar:nssv15161318;dbVar:nssv17976840;dbVar:nssv18329275;dbVar:nssv15138559;dbVar:nssv15147510;dbVar:nssv15148432;morbid:BBS9;dbVar:nssv17971381;dbVar:nssv18790316;dbVar:nssv18790317 7:54186-159075079;7:25451741-33864069;7:27133787-34466477;7:30977986-33440608;7:32718004-41084581;7:32911004-44576005;7:33169176-33675379;7:33296829-33427776;7:33376034-33427776;7:33388661-33397627 0.00;0.00;0.00;0.01;0.00;0.00;0.03;0.11;0.27;1.56 1 Bardet-Biedl_syndrome;Bardet-Biedl_syndrome_9 dbVar chr7:32726588-35070337 0.01 IMH 7:23891013-65526751;7:33013222-55782515 0.3810 chr7:32726588-35070337 dbVar 0.325 0.370 17.13 -2.43637392050626 -2.53125239294469 -2.47162789907313 -0.989035894351638 -1.15018109964609 607968 yes 4 4.2117e-17 6.3752e-10 0.9 1A (cf Gene_count, RE_gene, +0.00);2E-1 (BBS9, +0.90);3A (1 gene, +0.00);5F (+0.00) 4 -7_33397468_33397607_DEL_1 7 33397468 33397607 -139 DEL BBS9 inframe Pathogenic NA split p14.3 BBS9 NM_001348036 1 33168896 33645680 140 140 5 yes 23 exon16-intron16 CDS 0 5' 33397467 33397607 1 Bardet-Biedl_syndrome;Bardet-Biedl_syndrome_9 dbVar chr7:32726588-35070337 0.01 IMH 7:23891013-65526751;7:33013222-55782515 0.3810 17.13 -2.43637392050626 -2.53125239294469 -2.47162789907313 -0.989035894351638 -1.15018109964609 Bardet-Biedl syndrome;Bardet-Biedl syndrome 9;ciliopathy AR Definitive;Strong;Supportive 16380913;20177705;20301537[PMID];21209035;22353939;250490;251248;268436;282550 27241 607968 Bardet-Biedl syndrome 9, 615986 (3) AR AR yes 4 4.2117e-17 6.3752e-10 full=4 +7_33397468_33397607_DEL_1 7 33397468 33397607 -139 DEL BBS9 inframe Pathogenic NA split p14.3 BBS9 NM_001348036 1 33168896 33645680 140 140 5 yes 23 exon16-intron16 CDS 0 5' 33397467 33397607 1 Bardet-Biedl_syndrome;Bardet-Biedl_syndrome_9 dbVar chr7:32726588-35070337 0.01 IMH 7:23891013-65526751;7:33013222-55782515 0.3810 17.13 -2.43637392050626 -2.53125239294469 -2.47162789907313 -0.989035894351638 -1.15018109964609 Bardet-Biedl syndrome;Bardet-Biedl syndrome 9 AR Definitive;Strong;Supportive 16380913;20177705;20301537[PMID];21209035;22353939;250490;251248;268436;282550 27241 607968 Bardet-Biedl syndrome 9, 615986 (3) AR AR yes 4 4.2117e-17 6.3752e-10 full=4 12_63935482_64130626_DUP_1 12 63935482 64130626 195144 DUP DPY19L2 (both DEL and DUP LCR mediated, precise breakpoints) Pathogenic NA full q14.2 DPY19L2 AVPR1A RXYLT1 1 RXYLT1 (morbid/RE=GH_enhancer);TBK1 (morbid/RE=EA_enhancer) Spermatogenic failure 9, 613958 (3) AR dbVar:nssv15119764;dbVar:nssv16213932;morbid:DPY19L2 12:63952693-64062273;12:63952694-64062354;12:63989747-63989817 dbVar:nssv15161620;dbVar:nssv15161414;nssv15161422;dbVar:nssv15171852;dbVar:nssv15161798;dbVar:nssv15171855 12:2-133851895;12:173788-133777902;12:191620-133777645;12:282466-133773393;12:621221-133779118 0.15;0.15;0.15;0.15;0.15 dbVar:nssv15136921 12:61300933-66961857 3.45 1 Spermatogenic_failure_9 IMH 12:11501488-96031049;12:40933234-113477160 0.1070 chr12:63936386-64131550 dbVar;chr12:63939158-64117235 dbVar;12:63939159-64117235 esv3629757;chr12:63944788-63947354 dbVar;chr12:63965589-63975135 dbVar;chr12:63988950-64000500 dbVar;chr12:64010193-64011854 dbVar;chr12:64011854-64015265 dbVar;12:64020291-64020367 DDD:38896;12:64069043-64136500 dgv280e214;chr12:64077066-64077827 dbVar;chr12:64078873-64107227 dbVar;chr12:64117634-64120295 dbVar;chr12:64129133-64134963 dbVar;chr12:63936386-64131550 dbVar;chr12:63939158-64117235 dbVar;12:63939159-64117235 esv3629757;chr12:63944788-63947354 dbVar;chr12:63965589-63975135 dbVar;chr12:63988950-64000500 dbVar... chr12:63935000-63948000 dbVar;12:63936386-64131550 gnomAD-SV_v2.1_DUP_12_34997;12:63939159-64117235 1000g;12:63940549-64135811 DDD:38888;chr12:63950451-64144961 dbVar;chr12:63965589-64010193 dbVar;chr12:63998600-64077000 dbVar;chr12:64010193-64015265 dbVar;chr12:64011854-64021530 dbVar;chr12:64061735-64073704 dbVar;chr12:64073704-64076066 dbVar;chr12:64078873-64079823 dbVar;chr12:64089900-64096000 dbVar;chr12:64125000-64130000 dbVar;chr12:63935000-63948000 dbVar;12:63936386-64131550 gnomAD-SV_v2.1_DUP_12_34997;12:63939159-64117235 1000g;12:63940549-64135811 DDD:38888;chr12:63950451-64144961 dbVar;chr12:63965589-64010193 dbVar... chr12:63936000-63986000 dbVar;chr12:63946269-64141505 dbVar;chr12:63946732-63946956 dbVar;12:63946733-63946956 IMH;chr12:63959839-63959910 dbVar;12:64020291-64020367 DDD:38896;chr12:64069257-64069348 dbVar;chr12:64076528-64076585 dbVar;chr12:64116494-64116881 dbVar;chr12:63923277-64119251 dbVar;chr12:63939158-64117235 dbVar;12:63946730-63946956 esv2662353;12:63946732-63946956 gnomAD-SV_v2.1_DEL_12_129265;chr12:63950172-63950241 dbVar;chr12:64015848-64018740 dbVar;chr12:64065000-64130000 dbVar;chr12:64069869-64069961 dbVar;chr12:64103835-64106468 dbVar;chr12:64122000-64127000 dbVar chr12:63923277-64119251 dbVar;chr12:63939158-64117235 dbVar;12:63946730-63946956 esv2662353;12:63946732-63946956 gnomAD-SV_v2.1_DEL_12_129265;chr12:63950172-63950241 dbVar;chr12:64015848-64018740 dbVar;chr12:64065000-64130000 dbVar;chr12:64069869-64069961 dbVar;chr12:64103835-64106468 dbVar;chr12:64122000-64127000 dbVar;chr12:63936000-63986000 dbVar;chr12:63946269-64141505 dbVar;chr12:63946732-63946956 dbVar;12:63946733-63946956 IMH;chr12:63959839-63959910 dbVar;12:64020291-64020367 DDD:38896;chr12:64069257-64069348 dbVar;chr12:64076528-64076585 dbVar;chr12:64116494-64116881 dbVar 350981;2692928;1491350;1087307;2792491;2353750;2965163;1209828;1619448;1883558;2814116;1194770;2089432;31158;2419380;119292;287527;981327;1267803;1760195;174035;1054499;1054500;693309;1328263;1881832;2850280 loss;gain 0.530 0.430 12:63935369-63935656 AluSq2 12:64130409-64130696 AluSq2 12:63923419-63951619 12:64119249-64146247 81.13 1.02618176351368 1.66555804568279 613893 yes 4 1.0936e-13 7.0294e-05 0.0 1A (cf Gene_count, RE_gene, +0.00);2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00);2G (cf po_B_gain_someG_source, +0.00);2H-2 (DPY19L2, +0.00);3A (1 gene, +0.00);5F (+0.00) 3 12_63935482_64130626_DUP_1 12 63935482 64130626 195144 DUP DPY19L2 (both DEL and DUP LCR mediated, precise breakpoints) Pathogenic NA split q14.2 DPY19L2 NM_173812 5 63952692 64062273 109581 2277 100 no 22 txStart-txEnd 5'UTR-3'UTR 63952692 64062273 Spermatogenic failure 9, 613958 (3) AR dbVar:nssv16213932;morbid:DPY19L2 12:63952693-64062273;12:63989747-63989817 1 Spermatogenic_failure_9 1000g;DDD:38888;dbVar;esv3629757;gnomAD-SV_v2.1_DUP_12_34997 chr12:63936386-64131550;12:63936386-64131550;chr12:63939158-64117235;12:63939159-64117235;12:63939159-64117235;12:63940549-64135811;chr12:63950451-64144961 0.0257 dbVar chr12:63923277-64119251;chr12:63939158-64117235;chr12:63946269-64141505 0.01 IMH 12:11501488-96031049;12:40933234-113477160 0.1070 1267803;1760195;1054499;1054500 loss;gain 81.13 1.02618176351368 1.66555804568279 male infertility due to globozoospermia;spermatogenic failure 9 AR Strong;Supportive 17008355;21397063;21397063[PMID]_22571172[PMID];21397064;22627659;22653751;25755131;25780569 283417 613893 Spermatogenic failure 9, 613958 (3) AR AR yes 4 1.0936e-13 7.0294e-05 full=3 16_31955077_34702366_DUP_1 16 31955077 34702366 2747289 DUP Benign NA full p11.2-p11.1 LOC102723753;HERC2P4;TP53TG3D;LOC390705;LOC107987382;TP53TG3;SLC6A10P;TP53TG3C;LOC105369266;TP53TG3B;LOC107987386;ENPP7P13;MIR9901;CCNYL3;UBE2MP1;LOC112268173;LINC01566 ZNF267 FRG2DP 17 ARMC5 (morbid/RE=GH_promoter) dbVar:nssv15158812;dbVar:nssv15148703;dbVar:nssv15150639;nssv15151292;dbVar:nssv15158813;dbVar:nssv15158224;dbVar:nssv16216874;dbVar:nssv15126545;dbVar:nssv15133058;dbVar:nssv15126469;dbVar:nssv15150356 16:61452-90294632;16:69194-90274381;16:85882-90155062;16:88166-90163275;16:88166-90274695;16:5805002-34230001;16:24381954-33923059;16:30703234-35147508;16:31986099-90294753;16:34197493-64509054 3.04;3.05;3.05;3.05;3.05;8.00;20.63;61.82;4.66;1.67 dbVar:nssv15141243 16:28826163-34375007 43.61 IMH 16:24121264-80276578;16:29238285-88227116 0.4996 16:31749454-34012168 dgv50e203;chr16:31972000-31977000 dbVar;chr16:31988999-32093700 dbVar;16:31989000-32033000 gnomAD-SV_v2.1_DUP_16_42016;chr16:31998945-32000382 dbVar;chr16:32000382-32163177 dbVar;chr16:32020000-32026200 dbVar;16:32020000-32096000 TS40:ISCA-46491;16:32020000-32096000 gnomAD-SV_v2.1_DUP_16_42022;chr16:32042250-32083000 dbVar;chr16:32092602-32163177 dbVar;chr16:32127889-32379212 dbVar;chr16:32150000-32329000 dbVar;16:32193431-32193767 DDD:47069;16:32202950-32209100 gnomAD-SV_v2.1_DUP_16_42026;16:32232000-32237100 gnomAD-SV_v2.1_DUP_16_42027;chr16:32328771-32370968 dbVar;16:32328772-32370968 1000g;chr16:32328900-32377200 dbVar;chr16:32366481-32410672 dbVar... chr16:31669999-31991400 dbVar;chr16:31969000-31997000 dbVar;16:31985111-31985155 DDD:47053;chr16:31989000-32033000 dbVar;chr16:31998194-32020170 dbVar;chr16:32000382-32092602 dbVar;chr16:32008999-32020100 dbVar;16:32020000-32026200 gnomAD-SV_v2.1_DUP_16_42021;chr16:32020000-32096000 dbVar;chr16:32029000-32037000 dbVar;16:32055083-33851279 DDD:47058;16:32123333-33664028 DDD:47062;16:32129166-32904510 DDD:47063;chr16:32163177-32379212 dbVar;chr16:32202950-32209100 dbVar;chr16:32232000-32237100 dbVar;16:32257510-32714406 esv2421440;16:32328772-32370968 1000g;16:32328772-32370968 dgv504e214;16:32345385-33344188 IMH... chr16:31933999-31991400 dbVar;chr16:31986799-32041500 dbVar;chr16:31998194-32020170 dbVar;chr16:32036000-32041500 dbVar;16:32055083-33851279 DDD:47058;16:32129166-32904510 DDD:47063;chr16:32289883-32289979 dbVar;16:32298051-32812316 DDD:47074;chr16:32328771-32370968 dbVar;chr16:32366481-32410672 dbVar;chr16:32393247-32393542 dbVar;chr16:32473466-32473664 dbVar;16:32485788-32648832 DDD:47081;16:32489448-32622550 dgv4e224;chr16:32494596-32496820 dbVar;chr16:32511665-32511727 dbVar;16:32524651-32525229 IMH;16:32532282-32533735 IMH;16:32562331-32601372 IMH;chr16:32586298-32586783 dbVar... 16:31749454-34012168 dgv50e203;chr16:31971409-31971474 dbVar;chr16:31986800-31999150 dbVar;chr16:32010600-32020000 dbVar;16:32052946-32496748 DDD:47057;16:32123333-33664028 DDD:47062;16:32257510-32714406 esv2421440;chr16:32294372-32294452 dbVar;chr16:32312790-32313754 dbVar;16:32328772-32370968 1000g;chr16:32373626-32373758 dbVar;chr16:32418983-32469917 dbVar;chr16:32485126-32485204 dbVar;16:32486808-32486871 DDD:47084;chr16:32491490-32496732 dbVar;16:32511180-32878155 dgv819e212;16:32518848-32519371 IMH;16:32525918-32525974 IMH;16:32541493-32648861 DDD:47087;16:32562341-32600296 IMH... 867177;91567;353034;353631;846410;889780;602068;920215;656674;844820;928993;916990;882610;882781;913386;921568;602754;906717;909308;917780;926463;907306;918212;883393;881329;893721;893981;899737;917511;923245;924117;2606399;1093900;1094650;1192145;1453959;2693617;2151152;2692204;2913452;2253963;2648708;1487532;2616160;2182684;2494773;2639896;73921;926125;915894;606563;... gain;loss 0.225 0.335 16:31948879-31955047;16:31955090-31955836 L1PA3;L1M4c 94.39 1.56757328357025 2.11426077975333 9 7.5995e-03 6.4106e-01 0.0 1A (cf Gene_count, RE_gene, +0.00);2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00);2G (cf po_B_gain_someG_source, +0.00);3A (17 genes, +0.00);5F (+0.00) 3 diff --git a/share/doc/AnnotSV/Example/test_GRCh37.annotated.example.vcf b/share/doc/AnnotSV/Example/test_GRCh37.annotated.example.vcf index 2834a0f..9994c71 100644 --- a/share/doc/AnnotSV/Example/test_GRCh37.annotated.example.vcf +++ b/share/doc/AnnotSV/Example/test_GRCh37.annotated.example.vcf @@ -1,5 +1,5 @@ ##fileformat=VCFv4.2 -##fileDate=29/08/2024 +##fileDate=05/09/2024 ##inputFile=/gstock/LGM/analysisOfSV/AnnotSV/AnnotSV_3.4.1/share/doc/AnnotSV/Example/test.annotated.tsv ##source=variantconvert from AnnotSV ##variantconvertVersion=2.0.1 @@ -243,22 +243,22 @@ 3 62939218 . A . PASS AnnotSV_ID=3_62939218_65268743_DEL_1;SV_start=62939218;Biologist_annotation=VOUS_in_2017,_reclassified_in_2020;Biologist_ranking=Pathogenic;Annotation_mode=full,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split;CytoBand=p14.2-p14.1,p14.2,p14.2,p14.2,p14.2,p14.1,p14.1,p14.1,p14.1,p14.1,p14.1,p14.1,p14.1,p14.1,p14.1,p14.1,p14.1,p14.1,p14.1,p14.1,p14.1;Gene_name=LINC00698|SYNPR|SYNPR-AS1|SNTN|LOC100130345|C3orf49|THOC7|THOC7-AS1|ATXN7|SCAANT1|PSMD6-AS2|PSMD6|PRICKLE2-AS1|LINC00994|PRICKLE2|PRICKLE2-AS2|PRICKLE2-AS3|ADAMTS9|ADAMTS9-AS1|ADAMTS9-AS2,LINC00698,SYNPR,SYNPR-AS1,SNTN,LOC100130345,C3orf49,THOC7,THOC7-AS1,ATXN7,SCAANT1,PSMD6-AS2,PSMD6,PRICKLE2-AS1,LINC00994,PRICKLE2,PRICKLE2-AS2,PRICKLE2-AS3,ADAMTS9,ADAMTS9-AS1,ADAMTS9-AS2;Closest_left=CADPS;Closest_right=MAGI1;Gene_count=20;Tx=.,NR_027104,NM_001130003,NR_046677,NM_001348756,NR_171774,NM_001355236,NM_025075,NR_104326,NM_001177387,NR_148359,NR_038286,NM_001271779,NR_045697,NR_033978,NM_001370528,NR_046701,NR_046702,NM_182920,NR_110150,NR_038264;Tx_version=.,1,2,1,2,1,2,4,1,1,1,1,2,1,1,1,1,1,2,1,1;Tx_start=.,63088363,63263983,63409271,63638350,63727499,63804974,63819545,63846320,63884074,63897193,63989697,63996226,64053639,64064036,64077911,64089145,64173219,64501329,64547021,64670545;Tx_end=.,63110738,63602600,63535727,63650888,63799313,63834312,63849481,63847495,63989138,63897448,63997919,64009170,64088807,64073039,64253849,64092034,64187237,64673676,64575760,64997143;Overlapped_tx_length=.,22375,338617,126456,12538,71814,29338,29936,1175,105064,255,8222,12944,35168,9003,175938,2889,14018,172347,28739,326598;Overlapped_CDS_length=.,0,858,0,534,0,879,615,0,2838,0,0,1329,0,0,2535,0,0,5808,0,0;Overlapped_CDS_percent=.,0,100,0,100,0,100,100,0,100,0,0,100,0,0,100,0,0,100,0,0;Frameshift=.,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no;Exon_count=.,7,6,5,5,9,7,8,2,13,1,3,9,3,4,8,4,4,40,3,6;Location=.,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd;Location2=.,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR,UTR;Intersect_start=.,63088363,63263983,63409271,63638350,63727499,63804974,63819545,63846320,63884074,63897193,63989697,63996226,64053639,64064036,64077911,64089145,64173219,64501329,64547021,64670545;Intersect_end=.,63110738,63602600,63535727,63650888,63799313,63834312,63849481,63847495,63989138,63897448,63997919,64009170,64088807,64073039,64253849,64092034,64187237,64673676,64575760,64997143;RE_gene=SLC25A26_(morbid/RE=ABC_enhancer);P_loss_phen=Spinocerebellar_ataxia_7,_164500_(3)_AD,.,.,.,.,.,.,.,.,Spinocerebellar_ataxia_7,_164500_(3)_AD,.,.,.,.,.,.,.,.,.,.,.;P_loss_source=morbid:ATXN7,.,.,.,.,.,.,.,.,morbid:ATXN7,.,.,.,.,.,.,.,.,.,.,.;P_loss_coord=3:63953470-63989138,.,.,.,.,.,.,.,.,3:63953470-63989138,.,.,.,.,.,.,.,.,.,.,.;po_P_gain_source=dbVar:nssv15162889|dbVar:nssv15164144|dbVar:nssv15149891|nssv15151839;po_P_gain_coord=3:60175-197948027|3:61496-197838262|3:61893-197851986;po_P_gain_percent=1.18|1.18|1.18;po_P_loss_source=dbVar:nssv15146214|dbVar:nssv15774780|dbVar:nssv15148889|dbVar:nssv15147494|dbVar:nssv17956097|dbVar:nssv16207905|dbVar:nssv15150232|dbVar:nssv15146193|dbVar:nssv15120308;po_P_loss_coord=3:54079046-66046136|3:57076137-65716956|3:57174453-90309110|3:57416266-64870197|3:59332509-70686155|3:60449668-65561638|3:60526227-63742930|3:61956522-68514983|3:64746925-78459248;po_P_loss_percent=19.47|26.96|7.03|25.91|20.52|45.57|24.99|35.52|3.81;P_snvindel_nb=2,.,.,.,.,.,.,.,.,.,.,.,.,.,.,2,.,.,.,.,.;P_snvindel_phen=Progressive_myoclonic_epilepsy_type_5|See_cases,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Progressive_myoclonic_epilepsy_type_5|See_cases,.,.,.,.,.;B_gain_source=.,dbVar,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;B_gain_coord=.,chr3:62988224-63196657|chr3:63039190-63205089,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;B_gain_AFmax=.,0.01,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;B_inv_source=IMH;B_inv_coord=3:1200531-154949082|3:38627146-149162150;B_inv_AFmax=0.3422;po_B_gain_someG_source=chr3:62941958-63077128_dbVar|chr3:62988224-63196657_dbVar|chr3:63104365-63108343_dbVar|chr3:63129917-63140073_dbVar|3:63224614-63225527_IMH|chr3:63448301-63448496_dbVar|chr3:63579031-63579207_dbVar|chr3:63725720-63725786_dbVar|chr3:63795271-63828291_dbVar|chr3:63964168-63964321_dbVar|chr3:64363467-64363549_dbVar|chr3:64433374-64557649_dbVar|3:64533160-64535613_IMH|3:64533160-64535613_gnomAD-SV_v2.1_DUP_3_8779|chr3:64595652-64609395_dbVar|chr3:64917502-65281259_dbVar|chr3:65038885-65066135_dbVar|chr3:65074238-65181464_dbVar|chr3:65134891-65134996_dbVar;po_B_gain_someG_coord=chr3:62940751-63017993_dbVar|chr3:62959750-62999530_dbVar|chr3:63039190-63205089_dbVar|chr3:63120822-63143847_dbVar|chr3:63203000-63216000_dbVar|chr3:63280423-63280757_dbVar|chr3:63532617-63568092_dbVar|chr3:63581882-63581978_dbVar|3:63725720-63725786_gnomAD-SV_v2.1_DUP_3_8770|chr3:63962000-63963377_dbVar|chr3:64361507-64373876_dbVar|chr3:64391248-64521443_dbVar|chr3:64533047-64535763_dbVar|chr3:64533160-64535613_dbVar|chr3:64592460-64635589_dbVar|chr3:64759754-64760269_dbVar|chr3:64993929-65024280_dbVar|chr3:65044571-65063822_dbVar|chr3:65117840-65117976_dbVar;po_B_loss_someG_source=chr3:62952324-62973934_dbVar|chr3:62959476-62994696_dbVar|chr3:62959774-62994551_dbVar|chr3:62986070-62987837_dbVar|chr3:63006837-63007330_dbVar|chr3:63072271-63072321_dbVar|chr3:63103673-63107733_dbVar|3:63104370-63107212_1000g|chr3:63128000-63139500_dbVar|3:63134848-63135305_1000g|chr3:63134856-63135309_dbVar|chr3:63134857-63135309_dbVar|3:63134857-63135309_gnomAD-SV_v2.1_DEL_3_33028|chr3:63164118-63164190_dbVar|chr3:63182335-63190512_dbVar|chr3:63184629-63185275_dbVar|chr3:63256602-63256696_dbVar|chr3:63321371-63322219_dbVar|chr3:63347273-63347343_dbVar|chr3:63382056-63382224_dbVar...;po_B_loss_someG_coord=chr3:62938181-62985344_dbVar|chr3:62959345-62994669_dbVar|chr3:62959750-62999530_dbVar|chr3:62986062-62987807_dbVar|chr3:62992485-62993266_dbVar|chr3:63059041-63059108_dbVar|chr3:63081900-63082834_dbVar|chr3:63104369-63107212_dbVar|chr3:63119026-63120115_dbVar|chr3:63134847-63135305_dbVar|3:63134848-63135305_esv3596388|3:63134857-63135309_DDD:10454|3:63134857-63135309_esv2677248|3:63134858-63135309_IMH|chr3:63166947-63171818_dbVar|chr3:63184317-63184367_dbVar|chr3:63244236-63244406_dbVar|chr3:63299578-63299744_dbVar|chr3:63343372-63344883_dbVar|chr3:63353029-63353568_dbVar...;Cosmic_ID=465399|861891|435915|276093|499230|986538|1068008|1068049|1068051|1068055|356121|356412|356417|356440|639875|785617|366447|787942|107667|1001471|1871505|568338|683747|1010057|937826|670729|666457|879190|960773|770202|799721|494776|1274408|1680861|2707998|839074|1254755|982217|1989019|2782754|41481|1945945|2326969|2323872|1156484|1438065|1890712|2250641|2341391|2512207|2709178|...,.,982217|1989019|2782754|1945945|2326969|2323872|1156484|1438065|1890712|2250641|2341391|2512207|2709178|1484968|2346921|2817418|2979580|934596|936035|956432|970192|971293|972264|982600|994662|957452|996530|972875|979916|986395|952848|1353672|1401634|1501941|1501972|1649298|1715877|1790646|2003582|2037291|2140637|2307330|2433140|2905849|3025958|2388906|2813936|1363891|1601924|1866248|2272884|...,548375|494779|1048428|726165|327622|1048429|1048432|494780|830151|726166|3073085|770204|1167330|2744480|89973|90090|2255770|770205,309180,.,.,770220,.,418781|708951|1038179|708952|708953|708954|708955|447003|447603|107668|59834,.,447005,.,309182|276099|448792,.,1788970|448792|518859|276100|518860|770227|770228|770229|1231659|483530|940486|1904984|1922947|2849960|483531|2321740|2731090|3074273|1243506|135466|135902|135909|276101|733817|770230|770231|2731929|276102|1751877|770232,.,.,787948|276109|1042031|549355|2823064|1504208|2044109|2240649|1135553|1511158|2044804|2075783|2593226|2599590|2694024|2845215|944263|944306|969017|970694|970756|970760|984390|1799872|1067782|1068009|1932599|1967350|2001537|2005149|2203224|2308508|2691373|2792679|2969713|1072114|1915647|1042032|726177|2144978|301933|592200|366448|571129|276110|947661|947689|1042033,.,787949;Cosmic_mut_typ=gain|loss,.,gain|loss,loss|gain,loss,.,.,loss,.,loss|gain,.,loss,.,gain|loss,.,gain|loss,.,.,loss|gain,.,loss;GC_content_left=0.355;GC_content_right=0.43;Repeat_coord_left=3:62939271-62939427;Repeat_type_left=MER5A1;Repeat_coord_right=3:65268746-65268796|3:65268797-65269299;Repeat_type_right=LTR16B|L1MB2;DDD_HI_percent=68.54,.,27.35,.,66.14,.,68.54,7.39,.,17.72,.,.,8.63,.,.,19.72,.,.,31.58,.,.;ExAC_delZ=0.730304227093642,.,.,.,0.0947592166796515,.,.,0.226822637024357,.,0.730304227093642,.,.,0.167507008532066,.,.,0.557303960601498,.,.,-1.39811826175974,.,.;ExAC_dupZ=1.22944963357105,.,.,.,-0.338299474644844,.,.,-2.4455441384945,.,0.636006512326363,.,.,0.979835184836382,.,.,1.22944963357105,.,.,-0.477054147176997,.,.;ExAC_cnvZ=1.15014257139245,.,.,.,-0.173049359454575,.,.,-1.79937886551949,.,0.862222958307612,.,.,0.835574002005388,.,.,1.15014257139245,.,.,-0.711187689176027,.,.;ExAC_synZ=0.85336181383742,.,-0.433167561551584,.,-0.0258588646723899,.,.,-0.696357556154856,.,0.85336181383742,.,.,-0.764855351937167,.,.,0.337534415605819,.,.,-0.797615479905467,.,.;ExAC_misZ=2.61388539526619,.,-0.551647400212283,.,-1.1196806141136,.,.,1.21996216564798,.,0.386394557252369,.,.,1.81088903222596,.,.,2.61388539526619,.,.,0.510431064472241,.,.;GenCC_disease=.,.,.,.,.,.,.,.,.,autosomal_dominant_cerebellar_ataxia_type_II|spinocerebellar_ataxia_type_7,.,.,.,.,.,complex_neurodevelopmental_disorder,.,.,ciliopathy|nephronophthisis_1,.,.;GenCC_moi=.,.,.,.,.,.,.,.,.,AD,.,.,.,.,.,AD,.,.,AR,.,.;GenCC_classification=.,.,.,.,.,.,.,.,.,Definitive|Moderate|Strong|Supportive,.,.,.,.,.,Limited,.,.,Limited|Supportive,.,.;GenCC_pmid=.,.,.,.,.,.,.,.,.,20301317[PMID]|7477379|8908515|9288099,.,.,.,.,.,.,.,.,30609407[PMID],.,.;NCBI_gene_ID=.,285401,132204,100874016,132203,.,132200,80145,100874039,6314,100861563,100507062,9861,100652759,100287879,166336,100874242,100874243,56999,101929335,100507098;OMIM_ID=607640,.,.,.,.,.,.,.,.,607640,.,.,.,.,.,.,.,.,.,.,.;OMIM_phenotype=.,.,.,.,.,.,.,.,.,Spinocerebellar_ataxia_7,_164500_(3)_AD,.,.,.,.,.,.,.,.,.,.,.;OMIM_inheritance=.,.,.,.,.,.,.,.,.,AD,.,.,.,.,.,.,.,.,.,.,.;OMIM_morbid=yes,.,.,.,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,.;LOEUF_bin=0,.,4,.,9,.,7,4,.,1,.,.,0,.,.,1,.,.,1,.,.;GnomAD_pLI=0.99544,.,0.0041913,.,0.00010257,.,4.0628e-08,0.0060818,.,0.9595,.,.,0.99518,.,.,0.99544,.,.,1.0004e-06,.,.;ExAC_pLI=0.98784,.,0.17171,.,0.0027379,.,.,0.97832,.,0.92856,.,.,0.96209,.,.,0.98784,.,.,4.2266e-07,.,.;AnnotSV_ranking_score=1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2A_(cf_P_loss_source,_+1.00)|3A_(20_genes,_+0.00)|5F_(+0.00);ACMG_class=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5;END=65268743;SVLEN=-2329525 GT 1/. 3 97483034 . A . PASS AnnotSV_ID=3_97483034_97487074_DEL_1;SV_start=97483034;Biologist_annotation=BBS3/ARL6_promotor_overlapped;Biologist_ranking=Pathogenic;Annotation_mode=full,split;CytoBand=q11.2;Gene_name=ARL6;Closest_left=EPHA6;Closest_right=CRYBG3;Gene_count=1;Tx=.,NM_032146;Tx_version=.,5;Tx_start=.,97483364;Tx_end=.,97520086;Overlapped_tx_length=.,3710;Overlapped_CDS_length=.,123;Overlapped_CDS_percent=.,21;Frameshift=.,no;Exon_count=.,9;Location=.,txStart-intron3;Location2=.,5'UTR-CDS;Dist_nearest_SS=.,0;Nearest_SS_type=.,5';Intersect_start=.,97483364;Intersect_end=.,97487074;P_loss_source=dbVar:nssv16214088;P_loss_coord=3:97486953-97487074;po_P_gain_source=dbVar:nssv15162889|dbVar:nssv15164144|dbVar:nssv15149891|nssv15151839|dbVar:nssv17976063|dbVar:nssv15148953|dbVar:nssv15148997;po_P_gain_coord=3:60175-197948027|3:61496-197838262|3:61893-197851986|3:72488758-99614758|3:93519465-145413168|3:93538468-103607593;po_P_gain_percent=0.00|0.00|0.00|0.01|0.01|0.04;po_P_loss_phen=Bardet-Biedl_syndrome_3,_600151_(3)_AR|Retinitis_pigmentosa_55,_613575_(3)_AR|Bardet-Biedl_syndrome_1,_modifier_of,_209900_(3)_Digenic_recessive,AR;po_P_loss_source=dbVar:nssv15147282|dbVar:nssv15146259|dbVar:nssv18842017|dbVar:nssv16254235|dbVar:nssv17171854|morbid:ARL6|dbVar:nssv18326626|dbVar:nssv17971170;po_P_loss_coord=3:93538468-116605903|3:93605516-122935530|3:93698392-124492857|3:95563097-102371126|3:97194197-97510809|3:97483602-97520073|3:97483823-97499002|3:97486953-97516893;po_P_loss_percent=0.02|0.01|0.01|0.06|1.28|9.52|21.42|0.41;P_snvindel_nb=4;P_snvindel_phen=Bardet-Biedl_syndrome_1|Bardet-Biedl_syndrome_3|Retinitis_pigmentosa|Retinitis_pigmentosa_55;B_loss_source=dbVar;B_loss_coord=chr3:97481287-97495551;B_loss_AFmax=0.01;B_inv_source=IMH;B_inv_coord=3:1200531-154949082|3:38627146-149162150|3:75497389-125619977;B_inv_AFmax=0.3422;po_B_loss_someG_coord=chr3:97481287-97495551_dbVar;GC_content_left=0.455;GC_content_right=0.335;HI=.,30;TS=.,0;DDD_HI_percent=10.16;ExAC_delZ=0.309918017790144;ExAC_dupZ=-0.416168538751037;ExAC_cnvZ=-0.151628993663861;ExAC_synZ=-0.139439307213778;ExAC_misZ=-0.254839803839483;GenCC_disease=.,Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_3|retinitis_pigmentosa|retinitis_pigmentosa_55;GenCC_moi=.,AD|AR;GenCC_classification=.,Definitive|Strong|Supportive;GenCC_pmid=.,10973238|10973251|11381270|11567139|12016587|12118255|12524598|12567324|12837689|14520415|15137946|15258860|15314642|16308660|16380913|16582908|16606853|17160889|18203199|18327255|19858128|19956407|20142850|20301537[PMID]|20301590[PMID]|20333246|20618352|20671153|20805367|21282186|21937992|22085962|22334370|22353939|250666|26355662|26489029|27124789|27486776|28130426|28502102|31736247|7711739|7987310|8298649|9714014;NCBI_gene_ID=.,84100;OMIM_ID=608845;OMIM_phenotype=.,Bardet-Biedl_syndrome_3,_600151_(3)_AR|Retinitis_pigmentosa_55,_613575_(3)_AR|(Bardet-Biedl_syndrome_1,_modifier_of),_209900_(3)_Digenic_recessive,AR;OMIM_inheritance=.,AR|Digenic_recessive,AR;OMIM_morbid=yes;OMIM_morbid_candidate=yes;LOEUF_bin=5;GnomAD_pLI=0.01013;ExAC_pLI=0.0042709;AnnotSV_ranking_score=1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2A_(cf_P_loss_source,_+1.00)|3A_(1_gene,_+0.00)|5F_(+0.00);ACMG_class=5,full=5;END=97487074;SVLEN=-4040 GT 1/. 3 195419169 . A . PASS AnnotSV_ID=3_195419169_195472855_DEL_1;SV_start=195419169;Biologist_ranking=Benign;Annotation_mode=full,split,split,split;CytoBand=q29;Gene_name=MIR570HG|MIR570|MUC20,MIR570HG,MIR570,MUC20;Closest_left=SDHAP2;Closest_right=MUC4;Gene_count=3;Tx=.,NR_122105,NR_030296,NM_001282506;Tx_version=.,1,1,2;Tx_start=.,195415368,195426271,195447848;Tx_end=.,195438746,195426368,195460422;Overlapped_tx_length=.,19578,97,12574;Overlapped_CDS_length=.,0,0,2130;Overlapped_CDS_percent=.,0,0,100;Frameshift=.,no,no,no;Exon_count=.,5,1,4;Location=.,intron2-txEnd,txStart-txEnd,txStart-txEnd;Location2=.,UTR,UTR,5'UTR-3'UTR;Dist_nearest_SS=.,2859,.,.;Nearest_SS_type=.,5',.,.;Intersect_start=.,195419168,195426271,195447848;Intersect_end=.,195438746,195426368,195460422;RE_gene=ABCB7_(morbid/RE=mTL_miRNA)|ABHD5_(morbid/RE=mTL_miRNA)|ADAM22_(morbid/RE=mTL_miRNA)|ANXA11_(morbid/RE=mTL_miRNA)|ATP6V1B2_(morbid/RE=mTL_miRNA)|BICD2_(morbid/RE=mTL_miRNA)|BTD_(morbid/RE=mTL_miRNA)|CALM1_(morbid/RE=mTL_miRNA)|CALM3_(morbid/RE=mTL_miRNA)|CAVIN1_(morbid/RE=mTL_miRNA)|CBFB_(morbid/RE=mTL_miRNA)|CCDC115_(morbid/RE=mTL_miRNA)|CDKN1B_(HI=3/morbid/RE=mTL_miRNA)|CHD1_(morbid/RE=mTL_miRNA)|CHSY1_(morbid/RE=mTL_miRNA)|CLCN3_(morbid/RE=mTL_miRNA)|CRTAP_(morbid/RE=mTL_miRNA)|CSNK2A1_(morbid/RE=mTL_miRNA)|DDHD1_(morbid/RE=mTL_miRNA)|ELOVL5_(morbid/RE=mTL_miRNA)|EPG5_(morbid/RE=mTL_miRNA)|ESCO2_(morbid/RE=mTL_miRNA)|EXOC2_(morbid/RE=mTL_miRNA)|FBXW7_(morbid/RE=mTL_miRNA)|FTH1_(morbid/RE=mTL_miRNA)|GDF6_(morbid/RE=mTL_miRNA)|GSR_(morbid/RE=mTL_miRNA)|IGF1R_(HI=3/morbid/RE=mTL_miRNA)|IL6R_(morbid/RE=mTL_miRNA)|IREB2_(morbid/RE=mTL_miRNA)|KCNB1_(morbid/RE=mTL_miRNA)|KLHL15_(morbid/RE=mTL_miRNA)|KREMEN1_(morbid/RE=mTL_miRNA)|LEMD2_(morbid/RE=mTL_miRNA)|MRPL3_(morbid/RE=mTL_miRNA)|MYO1C_(morbid/RE=mTL_miRNA)|NDRG1_(morbid/RE=mTL_miRNA)|NDUFA12_(morbid/RE=mTL_miRNA)|P3H2_(morbid/RE=mTL_miRNA)|PAX2_(HI=3/morbid/RE=mTL_miRNA)|PCYT1A_(morbid/RE=GH_enhancer)|PEX2_(morbid/RE=mTL_miRNA)|PGK1_(morbid/RE=mTL_miRNA)|PHF6_(HI=3/morbid/RE=mTL_miRNA)|RAC1_(morbid/RE=mTL_miRNA)|RNF168_(morbid/RE=GH_enhancer)|SAMD12_(morbid/RE=mTL_miRNA)|SETD5_(HI=3/morbid/RE=mTL_miRNA)|SMC5_(morbid/RE=mTL_miRNA)|SOX3_(morbid/RE=mTL_miRNA)...;po_P_gain_source=dbVar:nssv15162889|dbVar:nssv15164144|dbVar:nssv15149891|nssv15151839|dbVar:nssv15148025|dbVar:nssv15146977|dbVar:nssv15145927|dbVar:nssv15147555|dbVar:nssv15147518|dbVar:nssv15145707|dbVar:nssv15149548|dbVar:nssv15148262|dbVar:nssv15146719|dbVar:nssv18326383|dbVar:nssv15164224|dbVar:nssv15147464|dbVar:nssv15148839|dbVar:nssv15142547|dbVar:nssv15153539|dbVar:nssv17976740|dbVar:nssv15153542|dbVar:nssv15153544|dbVar:nssv15164241|dbVar:nssv15152868|dbVar:nssv15755821|dbVar:nssv15146377|dbVar:nssv15146980|dbVar:nssv15153546|dbVar:nssv15145873|dbVar:nssv15149008|dbVar:nssv15145905|dbVar:nssv15146981|dbVar:nssv16254509|dbVar:nssv16736615|dbVar:nssv15148110;po_P_gain_coord=3:60175-197948027|3:61496-197838262|3:61893-197851986|3:103145727-197837049|3:147239680-197823436|3:151818302-197845254|3:155836231-197851986|3:156039668-197840323|3:157011168-197861598|3:158980632-197766890|3:165854998-197851986|3:167885357-197837049|3:171549422-198022430|3:173281267-197838262|3:175886314-197845254|3:176157700-197845254|3:177246494-197837049|3:182539235-197851986|3:183498521-197851986|3:184003968-197851986|3:186374366-197851986|3:186374672-197838262|3:187913568-197851986|3:188386567-197838262|3:188983161-197837049|3:190385453-197837049|3:191593620-197851986|3:192470727-197845254|3:193422395-197851986|3:194013987-197837069|3:194145226-197895629|3:195068029-197851986|3:195419169-197387258|3:195438670-197837049;po_P_gain_percent=0.03|0.03|0.03|0.06|0.11|0.12|0.13|0.13|0.13|0.14|0.17|0.18|0.20|0.22|0.24|0.25|0.26|0.35|0.37|0.39|0.47|0.47|0.54|0.57|0.61|0.72|0.86|1.00|1.21|1.40|1.43|1.93|2.73|1.43;po_P_loss_source=dbVar:nssv15146266|dbVar:nssv15128822|dbVar:nssv15165459|dbVar:nssv17955845|dbVar:nssv17955930|dbVar:nssv15145831;po_P_loss_coord=3:185203638-197837049|3:185599935-196462295|3:189101447-197838262|3:189608637-197532175|3:191866467-197842171|3:194059264-197420612;po_P_loss_percent=0.42|0.49|0.61|0.68|0.90|1.60;B_gain_source=DDD:12528|TS40:ISCA-46592|dbVar|esv2760775|esv2763776,1000g|DDD:12519|DDD:12528|DDD:12530|TS40:ISCA-46592|dbVar|dgv967e214|esv2760775|esv2763776,1000g|DDD:12519|DDD:12528|DDD:12530|TS40:ISCA-46592|dbVar|dgv967e214|esv2760775|esv2763776,DDD:12519|DDD:12528|DDD:12530|TS40:ISCA-46592|dbVar|esv2760775|esv2763776;B_gain_coord=3:195240825-195502119|chr3:195272344-195742942|3:195376589-195493533|3:195383143-195502119|3:195385823-195474165|chr3:195398446-195473245,3:195240825-195502119|chr3:195272344-195742942|3:195320057-195470538|chr3:195340839-195456934|3:195376589-195493533|3:195383143-195502119|3:195385823-195474165|chr3:195398446-195473245|3:195417631-195471708|chr3:195417835-195445776|3:195417836-195445776|3:195417836-195445776|3:195417836-195445776|3:195417836-195445776|3:195417836-195445776,3:195240825-195502119|chr3:195272344-195742942|3:195320057-195470538|chr3:195340839-195456934|3:195376589-195493533|3:195383143-195502119|3:195385823-195474165|chr3:195398446-195473245|3:195417631-195471708|chr3:195417835-195445776|3:195417836-195445776|3:195417836-195445776|3:195417836-195445776|3:195417836-195445776|3:195417836-195445776,3:195240825-195502119|chr3:195272344-195742942|3:195320057-195470538|3:195376589-195493533|3:195383143-195502119|3:195385823-195474165|chr3:195398446-195473245|3:195417631-195471708;B_gain_AFmax=0.03,0.4682,0.4682,0.0556;B_loss_source=DDD:12528|esv2760775|esv2763776,DDD:12519|DDD:12528|DDD:12530|HI40:ISCA-46589|dgv5017n100|esv2760775|esv2763776,DDD:12519|DDD:12528|DDD:12530|HI40:ISCA-46589|dgv5017n100|esv2760775|esv2763776,DDD:12519|DDD:12528|DDD:12530|HI40:ISCA-46589|esv2760775|esv2763776;B_loss_coord=3:195240825-195502119|3:195383143-195502119|3:195385823-195474165,3:195240825-195502119|3:195320057-195470538|3:195380279-195469564|3:195383131-195446910|3:195383143-195502119|3:195385823-195474165|3:195417631-195471708,3:195240825-195502119|3:195320057-195470538|3:195380279-195469564|3:195383131-195446910|3:195383143-195502119|3:195385823-195474165|3:195417631-195471708,3:195240825-195502119|3:195320057-195470538|3:195380279-195469564|3:195383143-195502119|3:195385823-195474165|3:195417631-195471708;B_loss_AFmax=0.03,0.0746,0.0746,0.0746;B_inv_source=IMH;B_inv_coord=3:195371562-197367616|3:195376259-197363816|3:195409822-195693354|3:195413625-195689159|3:195417390-195684632|3:195418302-195683569;B_inv_AFmax=0.1142;po_B_gain_someG_source=chr3:195272344-195742942_dbVar|chr3:195340839-195456934_dbVar|3:195383143-195502119_esv2760775|chr3:195398446-195473245_dbVar|chr3:195417835-195445776_dbVar|3:195417836-195445776_1000g|3:195417836-195445776_1000g|3:195428197-195442889_nsv515001|chr3:195452012-195457240_dbVar|3:195452013-195457240_1000g|chr3:195453277-195456053_dbVar|3:195454692-195475463_DDD:12537|chr3:195456053-195475056_dbVar|3:195457000-195471300_gnomAD-SV_v2.1_DUP_3_10621|chr3:195457141-195468593_dbVar|3:195457142-195468593_1000g|chr3:195457285-195471001_dbVar|chr3:195466565-195475056_dbVar|;po_B_gain_someG_coord=3:195240825-195502119_esv2763776|3:195320057-195470538_DDD:12519|3:195376589-195493533_TS40:ISCA-46592|3:195385823-195474165_DDD:12528|3:195417631-195471708_DDD:12530|3:195417836-195445776_1000g|3:195417836-195445776_1000g|3:195417836-195445776_dgv967e214|chr3:195452000-195457000_dbVar|3:195452013-195457240_1000g|3:195452013-195457240_dgv968e214|chr3:195453277-195475056_dbVar|chr3:195456053-195466565_dbVar|chr3:195457000-195471300_dbVar|chr3:195457000-195550000_dbVar|3:195457142-195468593_1000g|3:195457142-195468593_dgv969e214|chr3:195457816-195472945_dbVar|chr3:195471000-195476300_dbVar;po_B_loss_someG_source=3:195320057-195470538_DDD:12519|3:195383131-195446910_dgv5017n100|3:195385823-195474165_DDD:12528|chr3:195425199-195425686_dbVar|3:195454692-195475463_DDD:12537|3:195457142-195471062_dgv970e214|chr3:195457317-195471062_dbVar|chr3:195463643-195463762_dbVar;po_B_loss_someG_coord=3:195240825-195502119_esv2763776|3:195380279-195469564_HI40:ISCA-46589|3:195383143-195502119_esv2760775|3:195417631-195471708_DDD:12530|chr3:195451991-195452447_dbVar|chr3:195457141-195468593_dbVar|3:195457249-195471074_dgv906e199|3:195457318-195471062_1000g;Cosmic_ID=1158545|703362|668577|1066092|690004|794136|666582|674311|665255|915282|1019080|650094|650802|676953|689440|662061|669297|838978;Cosmic_mut_typ=gain|loss;GC_content_left=0.47;GC_content_right=0.415;Repeat_coord_left=3:195418975-195419071;Repeat_type_left=MER3;SegDup_left=3:195413607-195420395;ENCODE_blacklist_left=3:195341901-195476900;ENCODE_blacklist_characteristics_left=High_Signal_Region;ENCODE_blacklist_right=3:195341901-195476900;ENCODE_blacklist_characteristics_right=High_Signal_Region;DDD_HI_percent=95.22,.,.,95.22;NCBI_gene_ID=.,440993,693155,200958;LOEUF_bin=6,.,.,6;GnomAD_pLI=0.0047211,.,.,0.0047211;AnnotSV_ranking_score=-1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2F/4O_(cf_B_loss_source,_-1.00)|2B_(cf_po_P_loss_source,_HI,_OMIM_morbid,_+0.00)|3A_(3_genes,_+0.00)|5F_(+0.00);ACMG_class=1,full=1,full=1,full=1;END=195472855;SVLEN=-53686 GT 1/. -4 71553 . G . PASS AnnotSV_ID=4_71553_9371067_DEL_1;SV_start=71553;Biologist_annotation=4p-_syndrom;Biologist_ranking=Pathogenic;Annotation_mode=full,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split;CytoBand=p16.3-p16.1,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3-p16.2,p16.3,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2-p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1;Gene_name=ZNF595|ZNF718|ZNF876P|ZNF732|ZNF141|MIR571|ABCA11P|ZNF721|PIGG|TMEM271|LOC105374338|PDE6B|ATP5ME|MYL5|SLC49A3|PCGF3|PCGF3-AS1|CPLX1|GAK|TMEM175|DGKQ|SLC26A1|IDUA|FGFRL1|RNF212|LOC105374344|TMED11P|SPON2|LOC100130872|CTBP1-AS|CTBP1|CTBP1-DT|MAEA|UVSSA|NKX1-1|FAM53A|SLBP|TMEM129|TACC3|FGFR3|LETM1|NSD2|SCARNA22|NELFA|MIR943|C4orf48|NAT8L|POLN|HAUS3|MXD4|MIR4800|ZFYVE28|CFAP99|RNF4|FAM193A|TNIP2|SH3BP2|ADD1|MFSD10|NOP14-AS1|NOP14|GRK4|HTT-AS|HTT|MSANTD1|RGS12|HGFAC|DOK7|LRPAP1|LINC00955|LINC02171|ADRA2C|FAM86EP|OTOP1|TMEM128|LYAR|ZBTB49|NSG1|STX18|STX18-IT1|STX18-AS1|SNORD162|LOC101928279|LINC01396|MSX1|LOC101928306|CYTL1|STK32B|LINC01587|EVC2|EVC|CRMP1|MIR378D1|C4orf50|JAKMIP1|JAKMIP1-DT|WFS1|PPP2R2C|MAN2B2|MRFAP1|LINC02482|LOC93622|LINC02481|S100P|MRFAP1L1|BLOC1S4|KIAA0232|TBC1D14|LOC100129931|CCDC96|TADA2B|GRPEL1|LINC02447|SORCS2|MIR4798|PSAPL1|MIR4274|AFAP1-AS1|AFAP1|LOC389199|ABLIM2|MIR95|SH3TC1|HTRA3|LINC02517|ACOX3|TRMT44|GPR78|CPZ|HMX1|FAM90A26|USP17L10|USP17L11|USP17L12|USP17L13|USP17L15|USP17L17|USP17L18|USP17L19|USP17L20|USP17L21|USP17L22|USP17L24|USP17L25|USP17L26|USP17L5|USP17L27|USP17L28|USP17L29|USP17L9P|USP17L30|USP17L6P,ZNF595,ZNF718,ZNF876P,ZNF732,ZNF141,MIR571,ABCA11P,ZNF721,PIGG,TMEM271,LOC105374338,PDE6B,ATP5ME,MYL5,SLC49A3,PCGF3,PCGF3-AS1,CPLX1,GAK,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,LOC105374344,TMED11P,SPON2,LOC100130872,CTBP1-AS,CTBP1,CTBP1-DT,MAEA,UVSSA,NKX1-1,FAM53A,SLBP,TMEM129,TACC3,FGFR3,LETM1,NSD2,SCARNA22,NELFA,MIR943,C4orf48,NAT8L,POLN,HAUS3,MXD4,MIR4800,ZFYVE28,CFAP99,RNF4,FAM193A,TNIP2,SH3BP2,ADD1,MFSD10,NOP14-AS1,NOP14,GRK4,HTT-AS,HTT,MSANTD1,RGS12,HGFAC,DOK7,LRPAP1,LINC00955,LINC02171,ADRA2C,FAM86EP,OTOP1,TMEM128,LYAR,ZBTB49,NSG1,STX18,STX18-IT1,STX18-AS1,SNORD162,LOC101928279,LINC01396,MSX1,LOC101928306,CYTL1,STK32B,LINC01587,EVC2,EVC,CRMP1,MIR378D1,C4orf50,JAKMIP1,JAKMIP1-DT,WFS1,PPP2R2C,MAN2B2,MRFAP1,LINC02482,LOC93622,LINC02481,S100P,MRFAP1L1,BLOC1S4,KIAA0232,TBC1D14,LOC100129931,CCDC96,TADA2B,GRPEL1,LINC02447,SORCS2,MIR4798,PSAPL1,MIR4274,AFAP1-AS1,AFAP1,LOC389199,ABLIM2,MIR95,SH3TC1,HTRA3,LINC02517,ACOX3,TRMT44,GPR78,CPZ,HMX1,FAM90A26,USP17L10,USP17L11,USP17L12,USP17L13,USP17L15,USP17L17,USP17L18,USP17L19,USP17L20,USP17L21,USP17L22,USP17L24,USP17L25,USP17L26,USP17L5,USP17L27,USP17L28,USP17L29,USP17L9P,USP17L30,USP17L6P;Closest_right=DEFB131A;Gene_count=152;Tx=.,NM_001286052,NM_001039127,NR_027481,NM_001137608,NM_003441,NR_030297,NR_002451,NM_133474,NM_001127178,NM_001362796,NR_148199,NM_000283,NM_007100,NM_001395441,NM_001294341,NM_001317836,NR_171661,NM_006651,NM_005255,NM_032326,NM_001347,NM_022042,NM_000203,NM_001004356,NM_001131034,NR_134676,NR_033768,NM_001199021,NR_024569,NR_104331,NM_001377186,NR_033339,NM_001017405,NM_001317934,NM_001290079,NM_001174070,NM_006527,NM_001127266,NM_006342,NM_001163213,NM_012318,NM_001042424,NR_003004,NM_005663,NR_030641,NM_001141936,NM_178557,NM_181808,NM_001303143,NM_006454,NR_039964,NM_020972,NM_001193282,NM_002938,NM_001366318,NM_024309,NM_001145856,NM_001354761,NM_001146069,NR_015453,NM_001291978,NM_182982,NR_045414,NM_002111,NM_001042690,NM_001394155,NM_001297439,NM_001301071,NM_002337,NR_040045,NR_034136,NM_000683,NR_130740,NM_177998,NM_001297551,NM_017816,NM_001330625,NM_001382227,NM_016930,NR_126434,NR_037888,NR_145783,NR_125892,NR_125765,NM_002448,NR_125893,NM_018659,NM_018401,NR_126519,NM_147127,NM_153717,NM_001014809,NR_039608,NM_001364689,NM_001099433,NR_037863,NM_001145853,NM_020416,NM_015274,NM_001272053,NR_134664,NM_138699,NR_147207,NM_005980,NM_203462,NM_018366,NM_001100590,NM_001113361,NR_033828,NM_153376,NM_152293,NM_025196,NR_027441,NM_020777,NR_039961,NM_001085382,NR_036238,NR_026892,NM_001134647,NR_172651,NM_001130083,NR_029511,NM_018986,NM_053044,NR_149125,NM_003501,NM_152544,NM_080819,NM_001014447,NM_018942,NM_001358418,NM_001256852,NM_001256854,NM_001256853,NM_001256855,NM_001256894,NM_001256857,NM_001256859,NM_001256860,NM_001256861,NM_001256862,NM_001256863,NM_001242327,NM_001242326,NM_001242328,NM_001242329,NM_001242330,NM_001242331,NM_001242332,NR_046416,NM_001256867,NR_027279;Tx_version=.,2,6,1,3,4,1,2,4,3,2,1,4,4,1,2,3,1,4,4,4,4,4,5,3,4,1,1,2,1,1,1,1,3,2,1,3,4,2,3,2,3,3,1,5,1,3,4,4,2,3,1,3,4,5,2,4,2,2,2,2,2,3,1,8,2,1,2,2,4,1,1,4,1,3,2,3,2,1,4,1,1,1,1,1,3,1,3,3,1,5,3,3,1,2,2,1,1,4,3,2,1,3,1,3,3,3,2,2,1,3,3,4,1,3,1,2,1,1,2,1,2,1,5,5,1,3,3,5,3,3,3,1,1,1,1,2,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1;Tx_start=.,53214,124382,206388,264463,331602,343945,419223,433776,492998,567668,570956,619361,666224,668330,675617,699620,754230,778744,843064,926247,952674,981444,980831,1005413,1065265,1107426,1108984,1160719,1189570,1203907,1205232,1243227,1283678,1340995,1396719,1641613,1694457,1717678,1723247,1795019,1813205,1873119,1976362,1984449,1988110,2043721,2061053,2073644,2230075,2249158,2251803,2271323,2420681,2470832,2538373,2743374,2819896,2845570,2932293,2937272,2939662,2965297,3064972,3076407,3250885,3287617,3443694,3465032,3505338,3578595,3675319,3768111,3943486,4190452,4237268,4269427,4291977,4388828,4420694,4477847,4543857,4666052,4763486,4846163,4861391,4922534,5016312,5053206,5526295,5564165,5712927,5822490,5925001,5958836,6027925,6202459,6271576,6322307,6576915,6642411,6672454,6675801,6689174,6695604,6709427,6717900,6784453,6911192,7032280,7042575,7045098,7060621,7099150,7194264,7312176,7432011,7461754,7755816,7760440,7940727,7967053,8007027,8201016,8271480,8321902,8368008,8442503,8582118,8594491,8868773,9172134,9212382,9217130,9221877,9226621,9236110,9245604,9250355,9255103,9259849,9264597,9269344,9326890,9331636,9336383,9341128,9345873,9350618,9355363,9360107,9364854,9369599;Tx_end=.,88096,157952,249774,299263,378657,344041,467998,492945,533989,570084,578655,664571,668065,675817,682940,763877,775637,819917,926104,952444,967357,987192,998352,1020686,1107352,1126763,1116952,1202632,1202750,1212379,1242918,1246795,1333925,1381837,1400230,1686040,1714046,1723050,1746898,1810594,1857883,1983919,1976487,2010701,1988204,2045691,2070816,2243848,2243848,2263836,2251883,2420372,2464729,2517584,2734300,2758063,2842823,2931789,2936552,2952805,2965133,3042487,3076241,3245687,3258340,3441640,3451213,3503209,3534149,3592712,3679582,3770253,3957155,4228656,4249950,4291881,4323510,4420785,4543775,4483427,4712665,4666150,4789101,4852554,4865663,4990398,5021185,5502716,5529528,5710286,5816032,5894813,5925055,6020273,6202276,6235663,6304992,6474341,6625089,6644456,6675608,6677774,6692246,6698897,6711592,6719391,6885891,7034841,7047958,7044728,7059679,7069791,7105103,7744554,7312251,7436657,7461845,7780655,7941588,7942023,8160540,8007108,8242830,8308825,8325692,8442450,8478282,8591750,8621479,8873565,9178456,9213975,9218723,9223470,9228214,9237772,9247197,9251948,9256696,9261442,9266190,9270937,9328483,9333229,9337976,9342721,9347466,9352211,9356956,9361700,9366447,9370796;Overlapped_tx_length=.,16544,33570,43386,34800,47055,96,48775,59169,40991,2416,7699,45210,1841,7487,7323,64257,21407,41173,83040,26197,14683,5748,17521,15273,42087,19337,7968,41913,13180,8472,37686,3568,50247,40842,3511,44427,19589,5372,23651,15575,44678,110800,125,26252,94,1970,9763,170204,13773,14678,80,149049,44048,46752,195927,14689,22927,86219,4259,15533,25471,77190,11269,169280,7455,154023,7519,38177,28811,14117,4263,2142,13669,38204,12682,22454,31533,31957,123081,5580,168808,98,25615,6391,4272,67864,4873,449510,3233,146121,103105,72323,54,61437,174351,33204,33416,152034,48174,2045,3154,1973,3072,3293,2165,1491,101438,123649,15678,2153,14581,9170,5953,550290,75,4646,91,24839,181148,1296,193487,81,41814,37345,3790,74442,35779,9632,26988,4792,6322,1593,1593,1593,1593,1662,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1197;Overlapped_CDS_length=.,1709,1239,0,1758,1425,0,0,2772,2952,1158,0,2565,210,522,1683,729,0,405,3936,1515,2829,2106,1962,1515,894,0,0,996,0,0,1326,0,1191,2130,1347,1197,813,1089,2517,2427,2220,4098,0,1587,0,288,909,2703,1812,630,0,2664,1941,573,4548,1290,1857,2400,1368,0,2574,1737,0,9429,837,4344,1989,1827,1074,0,0,1389,0,1839,498,1140,2298,585,1008,0,0,0,0,0,912,0,411,1245,0,3927,2979,2061,0,4527,2496,0,2673,1344,3030,384,0,360,0,288,384,654,4188,2082,0,1668,1263,654,0,3480,0,1566,0,0,2445,0,1938,0,4011,1362,0,2103,2274,1092,1959,1047,1395,1593,1593,1593,1593,1662,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,0,1593,0;Overlapped_CDS_percent=.,92,100,0,100,100,0,0,100,100,83,0,100,100,100,100,100,0,100,100,100,100,100,100,100,100,0,0,100,0,0,100,0,100,100,100,100,100,100,100,100,100,100,0,100,0,100,100,100,100,100,0,100,100,100,100,100,100,100,100,0,100,100,0,100,100,100,100,100,100,0,0,72,0,100,100,100,100,100,100,0,0,0,0,0,100,0,100,100,0,100,100,100,0,100,100,0,100,100,100,96,0,19,0,100,61,44,100,100,0,96,100,100,0,100,0,96,0,0,100,0,100,0,100,100,0,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,0,100,0;Frameshift=.,yes,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no;Exon_count=.,8,6,2,4,4,1,3,3,13,1,3,22,4,9,10,12,3,4,28,11,23,3,14,7,10,3,4,8,4,6,9,2,9,14,2,5,8,4,16,18,14,22,1,11,1,4,3,26,6,6,1,13,16,8,21,6,13,16,13,4,18,16,3,67,3,18,15,10,8,3,3,1,4,6,5,10,8,6,11,4,6,1,3,4,2,3,4,12,4,22,21,14,1,12,21,4,8,9,19,3,2,1,3,2,2,1,9,14,4,1,2,4,2,27,1,1,1,2,18,1,21,1,18,9,4,18,11,3,11,2,7,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1;Location=.,intron2-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd;Location2=.,CDS-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,UTR,UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR;Dist_nearest_SS=.,12103,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;Nearest_SS_type=.,5',.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;Intersect_start=.,71552,124382,206388,264463,331602,343945,419223,433776,492998,567668,570956,619361,666224,668330,675617,699620,754230,778744,843064,926247,952674,981444,980831,1005413,1065265,1107426,1108984,1160719,1189570,1203907,1205232,1243227,1283678,1340995,1396719,1641613,1694457,1717678,1723247,1795019,1813205,1873119,1976362,1984449,1988110,2043721,2061053,2073644,2230075,2249158,2251803,2271323,2420681,2470832,2538373,2743374,2819896,2845570,2932293,2937272,2939662,2965297,3064972,3076407,3250885,3287617,3443694,3465032,3505338,3578595,3675319,3768111,3943486,4190452,4237268,4269427,4291977,4388828,4420694,4477847,4543857,4666052,4763486,4846163,4861391,4922534,5016312,5053206,5526295,5564165,5712927,5822490,5925001,5958836,6027925,6202459,6271576,6322307,6576915,6642411,6672454,6675801,6689174,6695604,6709427,6717900,6784453,6911192,7032280,7042575,7045098,7060621,7099150,7194264,7312176,7432011,7461754,7755816,7760440,7940727,7967053,8007027,8201016,8271480,8321902,8368008,8442503,8582118,8594491,8868773,9172134,9212382,9217130,9221877,9226621,9236110,9245604,9250355,9255103,9259849,9264597,9269344,9326890,9331636,9336383,9341128,9345873,9350618,9355363,9360107,9364854,9369599;Intersect_end=.,88096,157952,249774,299263,378657,344041,467998,492945,533989,570084,578655,664571,668065,675817,682940,763877,775637,819917,926104,952444,967357,987192,998352,1020686,1107352,1126763,1116952,1202632,1202750,1212379,1242918,1246795,1333925,1381837,1400230,1686040,1714046,1723050,1746898,1810594,1857883,1983919,1976487,2010701,1988204,2045691,2070816,2243848,2243848,2263836,2251883,2420372,2464729,2517584,2734300,2758063,2842823,2931789,2936552,2952805,2965133,3042487,3076241,3245687,3258340,3441640,3451213,3503209,3534149,3592712,3679582,3770253,3957155,4228656,4249950,4291881,4323510,4420785,4543775,4483427,4712665,4666150,4789101,4852554,4865663,4990398,5021185,5502716,5529528,5710286,5816032,5894813,5925055,6020273,6202276,6235663,6304992,6474341,6625089,6644456,6675608,6677774,6692246,6698897,6711592,6719391,6885891,7034841,7047958,7044728,7059679,7069791,7105103,7744554,7312251,7436657,7461845,7780655,7941588,7942023,8160540,8007108,8242830,8308825,8325692,8442450,8478282,8591750,8621479,8873565,9178456,9213975,9218723,9223470,9228214,9237772,9247197,9251948,9256696,9261442,9266190,9270937,9328483,9333229,9337976,9342721,9347466,9352211,9356956,9361700,9366447,9370796;RE_gene=ACTC1_(morbid/RE=mTL_miRNA)|ACVR1_(morbid/RE=mTL_miRNA)|AGO2_(morbid/RE=mTL_miRNA)|AKT1_(morbid/RE=mTL_miRNA)|ANTXR2_(morbid/RE=mTL_miRNA)|ARF1_(morbid/RE=mTL_miRNA)|ARHGDIA_(morbid/RE=mTL_miRNA)|ARPC1B_(morbid/RE=mTL_miRNA)|ATXN2_(morbid/RE=mTL_miRNA)|CAD_(morbid/RE=mTL_miRNA)|CALM2_(morbid/RE=mTL_miRNA)|CASK_(morbid/RE=mTL_miRNA)|CCNF_(morbid/RE=mTL_miRNA)|CELF2_(morbid/RE=mTL_miRNA)|CEP55_(morbid/RE=mTL_miRNA)|CIITA_(morbid/RE=mTL_miRNA)|CNTNAP2_(morbid/RE=mTL_miRNA)|COL18A1_(morbid/RE=mTL_miRNA)|COL1A1_(HI=3/morbid/RE=mTL_miRNA)|CREBBP_(HI=3/morbid/RE=mTL_miRNA)|CTCF_(HI=3/morbid/RE=mTL_miRNA)|DAAM2_(morbid/RE=mTL_miRNA)|DDR2_(morbid/RE=mTL_miRNA)|DDX3X_(HI=3/morbid/RE=mTL_miRNA)|EDEM3_(morbid/RE=mTL_miRNA)|EGLN1_(morbid/RE=mTL_miRNA)|ELOVL5_(morbid/RE=mTL_miRNA)|ESCO2_(morbid/RE=mTL_miRNA)|FLCN_(HI=3/morbid/RE=mTL_miRNA)|FLVCR1_(morbid/RE=mTL_miRNA)|FOXC1_(HI=3/morbid/RE=mTL_miRNA)|FOXP2_(morbid/RE=mTL_miRNA)|G6PD_(morbid/RE=mTL_miRNA)|GABRB2_(morbid/RE=mTL_miRNA)|GATA6_(HI=3/morbid/RE=mTL_miRNA)|GLI2_(HI=3/morbid/RE=mTL_miRNA)|GLUL_(morbid/RE=mTL_miRNA)|GNAS_(HI=3/morbid/RE=mTL_miRNA)|HERC2_(morbid/RE=mTL_miRNA)|HFE_(morbid/RE=mTL_miRNA)|IGF1R_(HI=3/morbid/RE=mTL_miRNA)|INF2_(morbid/RE=mTL_miRNA)|ITM2B_(morbid/RE=mTL_miRNA)|KCNJ6_(morbid/RE=mTL_miRNA)|LAMA4_(morbid/RE=mTL_miRNA)|LMNB2_(morbid/RE=mTL_miRNA)|LRP6_(morbid/RE=mTL_miRNA)|MED13_(morbid/RE=mTL_miRNA)|MEN1_(HI=3/morbid/RE=mTL_miRNA)|MMADHC_(morbid/RE=mTL_miRNA)...;P_gain_phen=Retinitis_pigmentosa|Retinitis_pigmentosa_40,.,.,.,.,.,.,.,.,.,.,.,Retinitis_pigmentosa|Retinitis_pigmentosa_40,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_gain_hpo=HP:0000547,.,.,.,.,.,.,.,.,.,.,.,HP:0000547,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_gain_source=CLN:801370|dbVar:nssv15124412|dbVar:nssv15130095|dbVar:nssv15132150|dbVar:nssv15132411|dbVar:nssv15132589|dbVar:nssv15133497|dbVar:nssv15153559|dbVar:nssv15161020|dbVar:nssv16255833|dbVar:nssv16867404|dbVar:nssv17172169|dbVar:nssv17973849|dbVar:nssv18330201,.,.,.,.,.,.,.,.,.,.,.,CLN:801370|dbVar:nssv15161020,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,dbVar:nssv17973849,dbVar:nssv17172169,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_gain_coord=4:127234-8667610|4:1420949-1836794|4:1737489-1808653|4:1770487-2303110|4:374558-745174|4:5567009-5587839|4:5785270-5803831|4:614356-2959936|4:619584-619584|4:619590-619662|4:72448-3848881|4:72448-5608810|4:85041-4597934|4:963689-2913553,.,.,.,.,.,.,.,.,.,.,.,4:619584-619584|4:619590-619662,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,4:5567009-5587839,4:5785270-5803831,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_loss_phen=4p16.3_terminal_(Wolf-Hirschhorn_syndrome)_region|?Cataract_41,_116400_(3)_AD|Deafness,_AD_6|14|38,_600965_(3)_AD|Wolfram_syndrome_1,_222300_(3)_AR|Wolfram-like_syndrome,_AD,_614296_(3)_AD|Diabetes_mellitus,_noninsulin-dependent,_association_with,_125853_(3)_AD|?Spermatogenic_failure_62,_619673_(3)_AR|Recombination_rate_QTL_1,_612042_(3)|?Weyers_acrofacial_dysostosis,_193530_(3)_AD|Ellis-van_Creveld_syndrome,_225500_(3)_AR|Achondroplasia,_100800_(3)_AD|Bladder_cancer,_somatic,_109800_(3)|CATSHL_syndrome,_610474_(3)_AR,AD|Cervical_cancer,_somatic,_603956_(3)|Colorectal_cancer,_somatic,_114500_(3)|Crouzon_syndrome_with_acanthosis_nigricans,_612247_(3)_AD|Hypochondroplasia,_146000_(3)_AD|LADD_syndrome_2,_620192_(3)_AD|Muenke_syndrome,_602849_(3)_AD|Nevus,_epidermal,_somatic,_162900_(3)|SADDAN,_616482_(3)_AD|Spermatocytic_seminoma,_somatic,_273300_(3)|Thanatophoric_dysplasia,_type_I,_187600_(3)_AD|Thanatophoric_dysplasia,_type_II,_187601_(3)_AD|Cherubism,_118400_(3)_AD|Curry-Hall_syndrome|Ellis-van_Creveld_syndrome|Developmental_and_epileptic_encephalopathy_63,_617976_(3)_AR|Ectodermal_dysplasia_3,_Witkop_type,_189500_(3)_AD|Orofacial_cleft_5,_608874_(3)_AD|Tooth_agenesis,_selective,_1,_with_or_without_orofacial_cleft,_106600_(3)_AD|Ellis-van_Creveld_syndrome,_225500_(3)_AR|Weyers_acrofacial_dysostosis,_193530_(3)_AD|Fetal_akinesia_deformation_sequence_3,_618389_(3)_AR|Myasthenic_syndrome,_congenital,_10,_254300_(3)_AR|Huntington_disease,_143100_(3)_AD|Lopes-Maciel-Rodan_syndrome,_617435_(3)_AR|Hurler_syndrome|Hypotonia,_ataxia,_developmental_delay,_and_tooth_enamel_defect_syndrome,_617915_(3)_AD|Mucopolysaccharidosis_Ih,_607014_(3)_AR|Mucopolysaccharidosis_Ih|s,_607015_(3)_AR|Mucopolysaccharidosis_Is,_607016_(3)_AR|Mucopolysaccharidosis_type_1|Myopia_23,_AR,_615431_(3)_AR|Neurodegeneration,_childhood-onset,_with_multisystem_involvement_due_to_mitochondrial_dysfunction,_620089_(3)_AR|Neurodevelopmental_disorder_with_or_without_hypotonia,_seizures,_and_cerebellar_atrophy,_616917_(3)_AR|Blood_group,_EMM_system,_619812_(3)_AR|Night_blindness,_congenital_stationary,_AD_2,_163500_(3)_AD|Retinitis_pigmentosa-40,_613801_(3)_AR|Oculoauricular_syndrome,_612109_(3)_AR|Rauch-Steindl_syndrome,_619695_(3)_AD|UV-sensitive_syndrome_3,_614640_(3)_AR,.,.,.,.,.,.,.,.,Neurodevelopmental_disorder_with_or_without_hypotonia,_seizures,_and_cerebellar_atrophy,_616917_(3)_AR|Blood_group,_EMM_system,_619812_(3)_AR,.,.,Night_blindness,_congenital_stationary,_AD_2,_163500_(3)_AD|Retinitis_pigmentosa-40,_613801_(3)_AR,.,.,.,.,.,Developmental_and_epileptic_encephalopathy_63,_617976_(3)_AR,.,.,.,.,Hurler_syndrome|Mucopolysaccharidosis_Ih,_607014_(3)_AR|Mucopolysaccharidosis_Ih|s,_607015_(3)_AR|Mucopolysaccharidosis_Is,_607016_(3)_AR|Mucopolysaccharidosis_type_1,.,?Spermatogenic_failure_62,_619673_(3)_AR|Recombination_rate_QTL_1,_612042_(3),.,.,.,.,.,.,.,.,UV-sensitive_syndrome_3,_614640_(3)_AR,.,.,.,.,.,Achondroplasia,_100800_(3)_AD|Bladder_cancer,_somatic,_109800_(3)|CATSHL_syndrome,_610474_(3)_AR,AD|Cervical_cancer,_somatic,_603956_(3)|Colorectal_cancer,_somatic,_114500_(3)|Crouzon_syndrome_with_acanthosis_nigricans,_612247_(3)_AD|Hypochondroplasia,_146000_(3)_AD|LADD_syndrome_2,_620192_(3)_AD|Muenke_syndrome,_602849_(3)_AD|Nevus,_epidermal,_somatic,_162900_(3)|SADDAN,_616482_(3)_AD|Spermatocytic_seminoma,_somatic,_273300_(3)|Thanatophoric_dysplasia,_type_I,_187600_(3)_AD|Thanatophoric_dysplasia,_type_II,_187601_(3)_AD,Neurodegeneration,_childhood-onset,_with_multisystem_involvement_due_to_mitochondrial_dysfunction,_620089_(3)_AR,Rauch-Steindl_syndrome,_619695_(3)_AD,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Cherubism,_118400_(3)_AD,.,.,.,.,.,.,Huntington_disease,_143100_(3)_AD|Lopes-Maciel-Rodan_syndrome,_617435_(3)_AR,.,.,.,Fetal_akinesia_deformation_sequence_3,_618389_(3)_AR|Myasthenic_syndrome,_congenital,_10,_254300_(3)_AR,Myopia_23,_AR,_615431_(3)_AR,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Ectodermal_dysplasia_3,_Witkop_type,_189500_(3)_AD|Orofacial_cleft_5,_608874_(3)_AD|Tooth_agenesis,_selective,_1,_with_or_without_orofacial_cleft,_106600_(3)_AD,.,.,.,.,.,?Weyers_acrofacial_dysostosis,_193530_(3)_AD|Ellis-van_Creveld_syndrome,_225500_(3)_AR|Curry-Hall_syndrome|Ellis-van_Creveld_syndrome,.,.,.,.,.,?Cataract_41,_116400_(3)_AD|Deafness,_AD_6|14|38,_600965_(3)_AD|Wolfram_syndrome_1,_222300_(3)_AR|Wolfram-like_syndrome,_AD,_614296_(3)_AD|Diabetes_mellitus,_noninsulin-dependent,_association_with,_125853_(3)_AD,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Oculoauricular_syndrome,_612109_(3)_AR,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_loss_hpo=HP:0000943,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,HP:0000943,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_loss_source=CLN:1313135|CLN:2672009|CLN:961843|HI3:ISCA-37429|HI3:MSX1|HI3:NSD2|dbVar:nssv15119851|dbVar:nssv15121023|dbVar:nssv15121032|dbVar:nssv15121033|dbVar:nssv15121034|dbVar:nssv15121217|dbVar:nssv15121218|dbVar:nssv15121687|dbVar:nssv15122678|dbVar:nssv15123516|dbVar:nssv15124520|dbVar:nssv15127349|dbVar:nssv15130945|dbVar:nssv15131476|dbVar:nssv15131910|dbVar:nssv15132407|dbVar:nssv15132408|dbVar:nssv15132580|nssv15140019|dbVar:nssv15132953|dbVar:nssv15133489|dbVar:nssv15133490|dbVar:nssv15133634|dbVar:nssv15134794|dbVar:nssv15134826|dbVar:nssv15135086|dbVar:nssv15135107|dbVar:nssv15138367|dbVar:nssv15138802|dbVar:nssv15138941|dbVar:nssv15139309|dbVar:nssv15144315|dbVar:nssv15147286|dbVar:nssv15153560|dbVar:nssv15153562|dbVar:nssv15605891|dbVar:nssv15606061|dbVar:nssv15770186|dbVar:nssv15770321|dbVar:nssv16211870|dbVar:nssv16212102|dbVar:nssv16213046|dbVar:nssv16213271|dbVar:nssv16213451|dbVar:nssv16213572|dbVar:nssv16213637|dbVar:nssv16213802|dbVar:nssv16214176|dbVar:nssv16214333|dbVar:nssv16216714|dbVar:nssv16252200|dbVar:nssv16253953|dbVar:nssv16254938|dbVar:nssv16297119|dbVar:nssv16297131|dbVar:nssv16867405|dbVar:nssv17171362|dbVar:nssv17171376|dbVar:nssv17171391|dbVar:nssv17171923|dbVar:nssv17172168|dbVar:nssv17172572|dbVar:nssv17172573|dbVar:nssv17172574|dbVar:nssv17172955|dbVar:nssv17173143|dbVar:nssv17173159|dbVar:nssv17683620|dbVar:nssv17970729|dbVar:nssv17970732|dbVar:nssv17971217|dbVar:nssv17971266|dbVar:nssv17971361|dbVar:nssv17971686|dbVar:nssv17971734|dbVar:nssv17971799|dbVar:nssv17971904|dbVar:nssv17972056|dbVar:nssv17972166|dbVar:nssv17972432|dbVar:nssv17973718|nssv17974037|dbVar:nssv17973748|dbVar:nssv17974578|dbVar:nssv17975024|dbVar:nssv17976233|dbVar:nssv17976464|dbVar:nssv17976477|dbVar:nssv17976550|dbVar:nssv18326580|dbVar:nssv18786244|dbVar:nssv18786333|dbVar:nssv18787193|dbVar:nssv18788241|dbVar:nssv18788242|dbVar:nssv18788927|dbVar:nssv18788928|dbVar:nssv18790018|dbVar:nssv18790019|dbVar:nssv18790020|dbVar:nssv18790021|dbVar:nssv18790022|dbVar:nssv18790117|dbVar:nssv18790118|dbVar:nssv18790119|dbVar:nssv18790120|dbVar:nssv18790121|dbVar:nssv18790180|dbVar:nssv18790633|dbVar:nssv18791534|dbVar:nssv18791535|dbVar:nssv18791536|dbVar:nssv18791537|dbVar:nssv18791538|dbVar:nssv18791542|dbVar:nssv18830727|morbid:CPLX1|morbid:CTBP1|morbid:DOK7|morbid:EVC|morbid:EVC2|morbid:FGFR3|morbid:HMX1|morbid:HTRA3|morbid:HTT|morbid:IDUA|morbid:LETM1|morbid:LRPAP1|morbid:MSX1|morbid:NSD2|morbid:PDE6B|morbid:PIGG|morbid:RNF212|morbid:SH3BP2|morbid:UVSSA|morbid:WFS1,.,.,.,.,.,.,.,.,dbVar:nssv17683620|dbVar:nssv17974578|dbVar:nssv17976464|dbVar:nssv17976477|dbVar:nssv18791534|dbVar:nssv18791536|dbVar:nssv18791537|dbVar:nssv18791538|morbid:PIGG,.,.,dbVar:nssv16213572|dbVar:nssv16213637|dbVar:nssv17171376|dbVar:nssv17171923|dbVar:nssv18788927|dbVar:nssv18788928|morbid:PDE6B,.,.,.,.,.,morbid:CPLX1,.,.,.,.,CLN:2672009|CLN:961843|dbVar:nssv16216714|dbVar:nssv18830727|morbid:IDUA,.,morbid:RNF212,.,.,.,.,.,.,.,.,morbid:UVSSA,.,.,.,.,.,morbid:FGFR3,morbid:LETM1,morbid:NSD2,.,.,.,.,.,.,.,.,.,.,.,.,.,.,morbid:SH3BP2,.,.,.,.,.,.,morbid:HTT,.,.,.,dbVar:nssv15130945|dbVar:nssv15131476|dbVar:nssv15770186|dbVar:nssv16213451|dbVar:nssv16214333|dbVar:nssv17971686|dbVar:nssv17972166|dbVar:nssv17976550|dbVar:nssv18786333|dbVar:nssv18790180|morbid:DOK7,morbid:LRPAP1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,HI3:MSX1|morbid:MSX1,.,.,.,.,dbVar:nssv15770321|dbVar:nssv16213046|dbVar:nssv16213271|dbVar:nssv16297119|dbVar:nssv17172955|dbVar:nssv17971266|dbVar:nssv17971361|dbVar:nssv17972056|dbVar:nssv18790018|dbVar:nssv18790020|dbVar:nssv18790021|dbVar:nssv18790022,CLN:1313135|dbVar:nssv15144315|dbVar:nssv16211870|dbVar:nssv16297131|dbVar:nssv17172168|dbVar:nssv17172572|dbVar:nssv17172573|dbVar:nssv17172574|dbVar:nssv17971734|dbVar:nssv17973718|nssv17974037|dbVar:nssv17975024|dbVar:nssv18786244|dbVar:nssv18790117|dbVar:nssv18790118|dbVar:nssv18790119|dbVar:nssv18790120|morbid:EVC,.,.,.,.,.,dbVar:nssv18790633|morbid:WFS1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,morbid:HTRA3,.,.,.,.,.,morbid:HMX1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_loss_coord=4:1087097-1107352|4:1190912-2255904|4:1205233-1244143|4:1228529-2862002|4:129754-9371067|4:1305803-2460571|4:1340996-1381837|4:1619776-2181192|4:1701019-1975031|4:1784695-1919793|4:1795020-1810594|4:1813206-1857883|4:1827029-1860753|4:1873124-1983934|4:1902353-1950545|4:1941634-3879802|4:1966267-5913899|4:2009467-3080412|4:2200252-5710240|4:2364202-5447465|4:2820541-2842823|4:2909441-6871516|4:3076408-3245687|4:3085428-7591673|4:331569-2010962|4:3465094-3495238|4:3465104-3465298|4:3475114-3491543|4:3478271-3491403|4:3486271-3496209|4:3487104-3487370|4:3487247-3495248|4:3487257-3487395|4:3487257-3495238|4:3494467-3495228|4:3495083-3495158|4:3505339-3534149|4:3776785-7361544|4:388345-3872380|4:4859066-4864603|4:4861392-4865663|4:4861393-4865663|4:4861628-6304195|4:492999-533989|4:493126-2065854|4:493126-663896|4:493126-998181|4:493969-499930|4:494166-494410|4:499508-502759|4:501175-533158|4:502599-509994|4:507006-2214932|4:509743-533158|4:512203-518547|4:520809-1020391|4:524206-527790|4:5563147-5711294|4:5564166-5711275|4:5564566-5578191|4:5564566-5586587|4:5564566-5759862|4:5564576-5567096|4:5565511-5811251|4:5570162-5570377|4:5576403-5576509|4:5617140-5812774|4:5630277-5633769|4:5630336-5635926|4:5630338-5635927|4:5636440-5710337|4:5642222-5642585|4:5682978-5735172|4:5690875-5691080|4:5690875-5696238|4:5696053-5696238|4:5710004-5750043|4:5711925-5817031|4:5712928-5816032|4:5713109-5714221|4:5713159-5713318|4:5731025-5759862|4:5733143-5735172|4:5749726-5755670|4:5754554-5755670|4:5754554-5758099|4:5754554-5785501|4:5754599-5758602|4:5785270-5812774|4:5795340-5795484|4:5795341-5795483|4:5798730-5798979|4:5798740-5798969|4:5803668-5806578|4:5809919-5811348|4:619417-619883|4:6271577-6304992|4:6279184-6279434|4:629670-670728|4:646966-664571|4:647642-648677|4:651220-652826|4:652722-656427|4:652742-656407|4:660321-661795|4:664193-671649|4:72448-2110334|4:72448-2327204|4:72448-2691306|4:72448-3208040|4:72448-3563382|4:72448-3725774|4:72448-3787112|4:72448-4360445|4:72448-4889835|4:72448-5036718|4:72448-5214111|4:72448-5346537|4:72448-6245152|4:72448-7831152|4:75743-8672411|4:778745-819917|4:78471-3364946|4:8271481-8308825|4:85041-1921232|4:85041-2010262|4:85041-4407509|4:85041-7065426|4:85041-7845343|4:8613755-8873340|4:8868774-8873565|4:980776-981040|4:980776-981747|4:990308-992083|4:990309-992082|4:993498-998345|4:994391-998355|4:996510-998192|4:996511-998191|4:996511-998355,.,.,.,.,.,.,.,.,4:492999-533989|4:493969-499930|4:494166-494410|4:499508-502759|4:501175-533158|4:502599-509994|4:509743-533158|4:512203-518547|4:524206-527790,.,.,4:619417-619883|4:646966-664571|4:647642-648677|4:651220-652826|4:652722-656427|4:652742-656407|4:660321-661795,.,.,.,.,.,4:778745-819917,.,.,.,.,4:990308-992083|4:990309-992082|4:993498-998345|4:996510-998192|4:996511-998191,.,4:1087097-1107352,.,.,.,.,.,.,.,.,4:1340996-1381837,.,.,.,.,.,4:1795020-1810594,4:1813206-1857883,4:1902353-1950545,.,.,.,.,.,.,.,.,.,.,.,.,.,.,4:2820541-2842823,.,.,.,.,.,.,4:3076408-3245687,.,.,.,4:3465094-3495238|4:3465104-3465298|4:3475114-3491543|4:3478271-3491403|4:3486271-3496209|4:3487104-3487370|4:3487247-3495248|4:3487257-3487395|4:3487257-3495238|4:3494467-3495228|4:3495083-3495158,4:3505339-3534149,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,4:4861392-4865663|4:4861393-4865663,.,.,.,.,4:5564566-5578191|4:5564566-5586587|4:5564576-5567096|4:5570162-5570377|4:5576403-5576509|4:5630277-5633769|4:5630336-5635926|4:5630338-5635927|4:5642222-5642585|4:5690875-5691080|4:5690875-5696238|4:5696053-5696238,4:5712928-5816032|4:5713109-5714221|4:5713159-5713318|4:5731025-5759862|4:5733143-5735172|4:5749726-5755670|4:5754554-5755670|4:5754554-5758099|4:5754554-5785501|4:5754599-5758602|4:5785270-5812774|4:5795340-5795484|4:5795341-5795483|4:5798730-5798979|4:5798740-5798969|4:5803668-5806578|4:5809919-5811348,.,.,.,.,.,4:6271577-6304992|4:6279184-6279434,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,4:8271481-8308825,.,.,.,.,.,4:8868774-8873565,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;po_P_gain_source=dbVar:nssv15165478|dbVar:nssv15148693|dbVar:nssv15149137|dbVar:nssv15125120|dbVar:nssv15134956|dbVar:nssv15136789|dbVar:nssv15148117|dbVar:nssv15165480|dbVar:nssv15164282|dbVar:nssv15164281|dbVar:nssv16215300|dbVar:nssv15145847|dbVar:nssv15132087|dbVar:nssv15132302|dbVar:nssv16254944|dbVar:nssv16207938|dbVar:nssv18830986|dbVar:nssv15150724|dbVar:nssv15777261|dbVar:nssv15151365|nssv18326348|dbVar:nssv15150634|dbVar:nssv15142189|dbVar:nssv15149870|nssv15151360|dbVar:nssv17649922|dbVar:nssv15147407|dbVar:nssv15146379|dbVar:nssv15146614|dbVar:nssv15148043|dbVar:nssv15146983|dbVar:nssv15146984|dbVar:nssv17976755|dbVar:nssv18841857|dbVar:nssv18841859|dbVar:nssv15164312|dbVar:nssv18841858|dbVar:nssv15149115;po_P_gain_coord=4:11526-191028879|4:12441-190904441|4:12441-49064044|4:33575-6632513|4:36425-1583294|4:36425-4098729|4:36425-47493612|4:49451-190915650|4:49451-190963766|4:49451-46339070|4:49451-49620898|4:51414-17799819|4:51414-3776843|4:51414-8224525|4:68346-2503033|4:68346-27423424|4:68346-34512694|4:68346-3713599|4:68346-4051616|4:68346-49089361|4:68346-66440622|4:68346-8731855|4:68347-190957473|4:69672-29702595|4:72448-21024037|4:72448-33132242|4:72448-39478764|4:78471-15627196|4:85041-22451641|4:85041-38701987|4:114785-47569569|4:507006-49064194|4:507006-57939396|4:1356925-49659859|4:2906395-42965249|4:6447049-20490737;po_P_gain_percent=4.87|4.87|18.96|99.42|97.73|99.14|19.60|4.87|4.87|20.09|18.76|52.40|99.46|99.75|99.87|34.00|27.00|99.91|99.92|18.97|14.01|99.96|4.87|31.38|44.38|28.13|23.60|59.76|41.52|24.05|19.51|18.25|15.43|16.59|16.14|20.82;po_P_loss_source=dbVar:nssv18330206|dbVar:nssv16254942|dbVar:nssv15140532|dbVar:nssv15129769|dbVar:nssv15124924|dbVar:nssv15139152|dbVar:nssv15136460|dbVar:nssv15138769|dbVar:nssv15136794|dbVar:nssv15139111|dbVar:nssv15145893|dbVar:nssv15145934|dbVar:nssv15134095|dbVar:nssv15147322|dbVar:nssv8639431|dbVar:nssv15164280|dbVar:nssv16208663|dbVar:nssv15123439|dbVar:nssv15135098|dbVar:nssv15146364|dbVar:nssv15121022|dbVar:nssv15119845|dbVar:nssv16207942|dbVar:nssv15151269|dbVar:nssv15149902|dbVar:nssv15146789|dbVar:nssv17976873|dbVar:nssv15151109|dbVar:nssv17957198|dbVar:nssv15137532|dbVar:nssv15148266|dbVar:nssv17956854|dbVar:nssv17976719|dbVar:nssv16254943|dbVar:nssv16207937|dbVar:nssv15152168|dbVar:nssv15141218|dbVar:nssv16254952|dbVar:nssv15150277|dbVar:nssv17976824|dbVar:nssv16254953|dbVar:nssv15139308|dbVar:nssv16207941|dbVar:nssv15138820|nssv16207940|dbVar:nssv16207939|dbVar:nssv18330137|dbVar:nssv18330792|dbVar:nssv17649921|dbVar:nssv15150501|dbVar:nssv15146961|dbVar:nssv15146716|dbVar:nssv15147405|dbVar:nssv15146665|dbVar:nssv15146669|dbVar:nssv15146272|dbVar:nssv15146661|dbVar:nssv15146276|dbVar:nssv15774427|dbVar:nssv15151369|dbVar:nssv15145981|dbVar:nssv16207944;po_P_loss_coord=4:2-12785001|4:2-1328868|4:29215-1925508|4:33575-2356516|4:33575-4534781|4:36425-1957819|4:36425-3267258|4:36425-3883057|4:36425-3975771|4:36425-7361544|4:36425-9371067|4:37337-15870679|4:37337-3776839|4:37337-9370984|4:44021-19796182|4:49451-2010397|4:49451-24280482|4:49451-8872474|4:51414-1399150|4:56773-14501384|4:56773-2214932|4:56773-3872380|4:68346-10312798|4:68346-10336032|4:68346-13770107|4:68346-14614077|4:68346-1512353|4:68346-15973383|4:68346-1675143|4:68346-1999185|4:68346-20387231|4:68346-20587167|4:68346-20964575|4:68346-2137211|4:68346-2786584|4:68346-3891984|4:68346-4044985|4:68346-5046326|4:68346-5319773|4:68346-5579467|4:68346-5831521|4:68346-6056753|4:68346-6984507|4:68346-8731855|4:68346-9768141|4:68347-12369983|4:68347-2437290|4:68599-18912995|4:71553-15302739|4:71553-29006745|4:72448-10252290|4:72448-12900236|4:72448-15659658|4:72448-17279636|4:72448-28067931|4:78471-10337237|4:85041-17488365|4:3374196-13468480|4:4165335-33324781|4:4428131-17462172|4:5914110-17264668;po_P_loss_percent=72.74|94.62|97.77|98.37|99.16|98.17|98.91|99.09|99.11|99.52|99.62|58.73|99.09|99.63|47.08|98.87|38.38|99.75|98.51|64.38|99.32|99.61|90.78|90.57|67.87|63.93|99.78|58.47|99.80|99.83|45.77|45.32|44.50|99.84|99.88|99.92|99.92|99.94|99.94|99.94|99.94|99.95|99.95|99.96|95.87|75.60|99.86|49.35|61.06|32.14|91.34|72.49|59.66|54.04|33.21|90.58|53.36|59.41|17.85|37.92|30.46;P_snvindel_nb=809,.,.,.,.,.,.,.,.,48,.,.,71,.,.,.,.,.,1,.,.,.,19,190,.,.,.,.,.,.,1,1,.,.,1,.,.,.,.,.,36,.,27,.,.,.,.,.,.,.,.,.,.,.,.,.,.,7,.,.,.,.,.,.,3,.,.,.,44,1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,6,.,.,.,.,142,115,.,.,.,1,.,114,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_snvindel_phen=4p_partial_monosomy_syndrome|Abnormality_of_mucopolysaccharide_metabolism|Abnormality_of_the_cervical_spine|Abnormality_of_the_diaphragm|Abnormality_of_the_musculature|Abnormality_of_the_nervous_system|Abnormality_of_the_vertebral_column|Acanthosis_nigricans|Achondroplasia|Arachnodactyly|Autosomal_dominant_nonsyndromic_hearing_loss_6|Autosomal_recessive_retinitis_pigmentosa|Bell-shaped_thorax|Bowed_humerus|Camptodactyly-tall_stature-scoliosis-hearing_loss_syndrome|Carcinoma|Carcinoma_of_colon|Cataract_41|Cerebellar_vermis_hypoplasia|Cervical_cancer|Cleft_palate|Colorectal_cancer|Cone-rod_dystrophy|Congenital_Stationary_Night_Blindness,_Dominant|Congenital_laryngomalacia|Congenital_myasthenic_syndrome|Congenital_myasthenic_syndrome_10|Congenital_stationary_night_blindness_autosomal_dominant_2|Connective_tissue_disorder|Coronal_craniosynostosis|Craniosynostosis_syndrome|Crouzon_syndrome|Crouzon_syndrome-acanthosis_nigricans_syndrome|Curry-Hall_syndrome|DOK7-related_condition|Dandy-Walker_syndrome|Developmental_and_epileptic_encephalopathy,_63|Diabetes_mellitus|Diaphragmatic_eventration|Disproportionate_short-limb_short_stature|Duane_retraction_syndrome|EVC-related_condition|EVC2-related_condition|Ellis-van_Creveld_syndrome|Emm-null_phenotype|Epidermal_nevus|FGFR3-Related_Disorders|FGFR3-related_chondrodysplasia|FGFR3-related_condition|FGFR3-related_disorder|Facial_asymmetry|Feeding_difficulties|Femoral_bowing|Fetal_akinesia_deformation_sequence_1|Fetal_akinesia_deformation_sequence_3|Fibrous_dysplasia_of_jaw|Generalized_non-motor_(absence)_seizure|Germ_cell_tumor_of_testis|Global_developmental_delay|Growth_delay|Hamartoma|Hurler_syndrome|Hydronephrosis|Hydroureter|Hypochondroplasia|Hypoplastic_enamel-onycholysis-hypohidrosis_syndrome|Hypotonia,_ataxia,_developmental_delay,_and_tooth_enamel_defect_syndrome|IDUA-related_condition|Inborn_genetic_diseases|Infantile_axial_hypotonia|Intellectual_disability,_autosomal_recessive_53|Interstitial_pneumonitis|Isolated_microphthalmia_6|Jeune_thoracic_dystrophy|Larsen_syndrome|Leber_congenital_amaurosis|Lethal_short-limbed_short_stature|Levy-Hollister_syndrome|Lower_limb_undergrowth|Lung_adenocarcinoma|MSX1-related_condition|Malignant_tumor_of_testis|Malignant_tumor_of_urinary_bladder|Microglossia|Micrognathia|Mucopolysaccharidosis|Mucopolysaccharidosis,_MPS-I-H/S|Mucopolysaccharidosis,_MPS-I-S|Mucopolysaccharidosis,_MPS-IV-A|Mucopolysaccharidosis_type_1|Mucopolysacchariduria|Muenke_syndrome|Multiple_myeloma|Myopia_23,_autosomal_recessive|NSD2_related_disorders|Narrow_chest|Neurodevelopmental_delay|Night_blindness|Nonsyndromic_genetic_hearing_loss|PDE6B-Related_Disorders|PDE6B-related_condition|PDE6B-related_disorder|PIGG-related_condition|Papillary_renal_cell_carcinoma,_sporadic|Rare_genetic_deafness|Rauch-Steindl_syndrome|Retinal_dystrophy|Retinitis_pigmentosa|Retinitis_pigmentosa_40|Rett_syndrome|Rod-cone_dystrophy|SEVERE_ACHONDRODYSPLASIA_WITH_DEVELOPMENTAL_DELAY_AND_ACANTHOSIS_NIGRICANS|Saethre-Chotzen_syndrome|Seborrheic_keratosis|See_cases|Seizure|Sensorineural_hearing_loss_disorder|Severe_achondroplasia-developmental_delay-acanthosis_nigricans_syndrome|Short-rib_thoracic_dysplasia_6_with_or_without_polydactyly|Short_ribs|Short_stature|Skeletal_dysplasia|Skeletal_dysplasia_with_acanthosis_nigricans|Small_for_gestational_age|Small_hand|Smith-Magenis_Syndrome-like|Spermatocytic_seminoma|Squamous_cell_carcinoma_of_the_head_and_neck|Squamous_cell_lung_carcinoma|Syndromic_intellectual_disability|Thanatophoric_dysplasia|Thanatophoric_dysplasia,_type_2|Thanatophoric_dysplasia_type_1|Transitional_cell_carcinoma_of_the_bladder|Type_2_diabetes_mellitus|Type_IV_short_rib_polydactyly_syndrome|Tyrosinase-positive_oculocutaneous_albinism|Unilateral_renal_agenesis|Upper_limb_undergrowth|Urinary_bladder_carcinoma|WFS1-Related_Spectrum_Disorders|WFS1-related_condition|WFS1-related_disorder|Wolf-Hirschhorn_like_syndrome|Wolfram-like_syndrome|Wolfram_syndrome|Wolfram_syndrome_1|not_specified,.,.,.,.,.,.,.,.,Emm-null_phenotype|Inborn_genetic_diseases|Intellectual_disability,_autosomal_recessive_53|PIGG-related_condition,.,.,Autosomal_recessive_retinitis_pigmentosa|Cone-rod_dystrophy|Congenital_Stationary_Night_Blindness,_Dominant|Congenital_stationary_night_blindness_autosomal_dominant_2|Leber_congenital_amaurosis|PDE6B-Related_Disorders|PDE6B-related_condition|PDE6B-related_disorder|Retinal_dystrophy|Retinitis_pigmentosa|Retinitis_pigmentosa_40|Rod-cone_dystrophy|Tyrosinase-positive_oculocutaneous_albinism,.,.,.,.,.,Developmental_and_epileptic_encephalopathy,_63,.,.,.,Abnormality_of_mucopolysaccharide_metabolism|Hurler_syndrome|IDUA-related_condition|Interstitial_pneumonitis|Mucopolysaccharidosis|Mucopolysaccharidosis,_MPS-I-H/S|Mucopolysaccharidosis,_MPS-I-S|Mucopolysaccharidosis_type_1,Abnormality_of_mucopolysaccharide_metabolism|Hurler_syndrome|IDUA-related_condition|Inborn_genetic_diseases|Interstitial_pneumonitis|Mucopolysaccharidosis|Mucopolysaccharidosis,_MPS-I-H/S|Mucopolysaccharidosis,_MPS-I-S|Mucopolysaccharidosis,_MPS-IV-A|Mucopolysaccharidosis_type_1|Mucopolysacchariduria|See_cases,.,.,.,.,.,.,Hypotonia,_ataxia,_developmental_delay,_and_tooth_enamel_defect_syndrome|Inborn_genetic_diseases,Hypotonia,_ataxia,_developmental_delay,_and_tooth_enamel_defect_syndrome|Inborn_genetic_diseases,.,.,.,.,.,.,.,.,Abnormality_of_the_nervous_system|Acanthosis_nigricans|Achondroplasia|Bell-shaped_thorax|Bowed_humerus|Camptodactyly-tall_stature-scoliosis-hearing_loss_syndrome|Carcinoma|Carcinoma_of_colon|Cervical_cancer|Colorectal_cancer|Connective_tissue_disorder|Coronal_craniosynostosis|Craniosynostosis_syndrome|Crouzon_syndrome|Crouzon_syndrome-acanthosis_nigricans_syndrome|Disproportionate_short-limb_short_stature|Epidermal_nevus|FGFR3-Related_Disorders|FGFR3-related_chondrodysplasia|FGFR3-related_condition|FGFR3-related_disorder|Facial_asymmetry|Femoral_bowing|Generalized_non-motor_(absence)_seizure|Germ_cell_tumor_of_testis|Growth_delay|Hamartoma|Hypochondroplasia|Inborn_genetic_diseases|Infantile_axial_hypotonia|Larsen_syndrome|Lethal_short-limbed_short_stature|Levy-Hollister_syndrome|Lower_limb_undergrowth|Lung_adenocarcinoma|Malignant_tumor_of_testis|Malignant_tumor_of_urinary_bladder|Muenke_syndrome|Multiple_myeloma|Narrow_chest|Neurodevelopmental_delay|Papillary_renal_cell_carcinoma,_sporadic|SEVERE_ACHONDRODYSPLASIA_WITH_DEVELOPMENTAL_DELAY_AND_ACANTHOSIS_NIGRICANS|Saethre-Chotzen_syndrome|Seborrheic_keratosis|See_cases|Seizure|Severe_achondroplasia-developmental_delay-acanthosis_nigricans_syndrome|Short_ribs|Short_stature|Skeletal_dysplasia|Skeletal_dysplasia_with_acanthosis_nigricans|Small_for_gestational_age|Spermatocytic_seminoma|Squamous_cell_carcinoma_of_the_head_and_neck|Squamous_cell_lung_carcinoma|Thanatophoric_dysplasia|Thanatophoric_dysplasia,_type_2|Thanatophoric_dysplasia_type_1|Transitional_cell_carcinoma_of_the_bladder|Unilateral_renal_agenesis|Upper_limb_undergrowth|Urinary_bladder_carcinoma|not_specified,.,4p_partial_monosomy_syndrome|Global_developmental_delay|Inborn_genetic_diseases|NSD2_related_disorders|Neurodevelopmental_delay|Rauch-Steindl_syndrome|Syndromic_intellectual_disability|Wolf-Hirschhorn_like_syndrome,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Fibrous_dysplasia_of_jaw,.,.,.,.,.,.,.,.,.,.,Abnormality_of_the_musculature|Congenital_myasthenic_syndrome|Congenital_myasthenic_syndrome_10|DOK7-related_condition|Fetal_akinesia_deformation_sequence_1|Fetal_akinesia_deformation_sequence_3|Inborn_genetic_diseases|Rett_syndrome|See_cases,Myopia_23,_autosomal_recessive,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Hypoplastic_enamel-onycholysis-hypohidrosis_syndrome|MSX1-related_condition,.,.,.,.,Curry-Hall_syndrome|EVC2-related_condition|Ellis-van_Creveld_syndrome|Inborn_genetic_diseases|Jeune_thoracic_dystrophy|Short-rib_thoracic_dysplasia_6_with_or_without_polydactyly|Type_IV_short_rib_polydactyly_syndrome|not_specified,Curry-Hall_syndrome|EVC-related_condition|Ellis-van_Creveld_syndrome|Short-rib_thoracic_dysplasia_6_with_or_without_polydactyly,.,.,.,Smith-Magenis_Syndrome-like,.,Abnormality_of_the_cervical_spine|Abnormality_of_the_diaphragm|Abnormality_of_the_vertebral_column|Arachnodactyly|Autosomal_dominant_nonsyndromic_hearing_loss_6|Cataract_41|Cerebellar_vermis_hypoplasia|Cleft_palate|Congenital_laryngomalacia|Dandy-Walker_syndrome|Diabetes_mellitus|Diaphragmatic_eventration|Duane_retraction_syndrome|Feeding_difficulties|Global_developmental_delay|Hydronephrosis|Hydroureter|Inborn_genetic_diseases|Microglossia|Micrognathia|Night_blindness|Nonsyndromic_genetic_hearing_loss|Rare_genetic_deafness|See_cases|Sensorineural_hearing_loss_disorder|Small_hand|Type_2_diabetes_mellitus|WFS1-Related_Spectrum_Disorders|WFS1-related_condition|WFS1-related_disorder|Wolfram-like_syndrome|Wolfram_syndrome|Wolfram_syndrome_1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Isolated_microphthalmia_6,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;B_gain_source=.,dbVar|esv2763806,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,.,.,.,dbVar,dbVar,dbVar,dbVar,.,.,dbVar,.,.,.,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,.,.,.,.,dbVar,.,.,dbVar,.,.,.,.,.,.,.,.,.,.,.,.,.,.,dbVar,dbVar,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,dbVar,.,dbVar,dbVar,dbVar,dbVar,.,.,.,.,.,.,dbVar,dbVar,dbVar,dbVar,dbVar,.,dbVar,.,.,.,.,.,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,dbVar,.,.,.,.,.,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|DDD:12919|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|DDD:12919|DDD:12922|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|DDD:12919|DDD:12922|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|DDD:12919|DDD:12922|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174;B_gain_coord=.,4:12282-121562|chr4:67914-130131,chr4:71970-524981|chr4:103000-188000,chr4:71970-524981|chr4:191270-254556,chr4:71970-524981,chr4:71970-524981|chr4:297194-398976|chr4:308401-399950,chr4:71970-524981|chr4:297194-398976|chr4:308401-399950|chr4:335381-378075,chr4:71970-524981,chr4:71970-524981,.,.,.,chr4:613000-729000,chr4:613000-729000|chr4:653000-672000,chr4:613000-729000,chr4:613000-729000,.,.,chr4:754376-832076,.,.,.,chr4:968425-1004663,chr4:968425-1004663,chr4:997718-1171806,chr4:997718-1171806,chr4:997718-1171806,chr4:997718-1171806,.,.,.,.,chr4:1212000-1328000,.,.,chr4:1395250-1402000,.,.,.,.,.,.,.,.,.,.,.,.,.,.,chr4:2235501-2406763|chr4:2237000-2302000,chr4:2235501-2406763|chr4:2237000-2302000,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,chr4:3599563-3715752|chr4:3601813-3701023|chr4:3621281-3742478,.,chr4:3895471-4250523|chr4:3898327-4166047|chr4:3906095-3993252|chr4:3938384-4025767|chr4:3939497-4298000,chr4:3895471-4250523|chr4:3939497-4298000,chr4:3895471-4250523|chr4:3939497-4298000,chr4:3939497-4298000,.,.,.,.,.,.,chr4:4763025-4828041,chr4:4785101-5227993|chr4:4833228-4894750,chr4:4785101-5227993|chr4:4833228-4894750,chr4:4785101-5227993,chr4:4785101-5227993,.,chr4:5486512-5554541,.,.,.,.,.,chr4:5960239-6587328,chr4:5960239-6587328,chr4:5960239-6587328,chr4:5960239-6587328,chr4:6438729-6651391,chr4:6438729-6651391,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,chr4:8311538-8373454,.,.,.,.,.,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|4:9176165-9236152|chr4:9181620-9274560,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|4:9176165-9236152|chr4:9181620-9274560|4:9212771-9237062,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|4:9176165-9236152|chr4:9181620-9274560|4:9212771-9237062,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|4:9176165-9236152|chr4:9181620-9274560|4:9212771-9237062,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|chr4:9181620-9274560,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|chr4:9181620-9274560,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|chr4:9181620-9274560,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|chr4:9181620-9274560,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|c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,.,.,.,.,.,Definitive|Strong|Supportive,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;GenCC_pmid=.,.,.,.,.,23160277|26394607[PMID]_23160277[PMID],.,.,.,26996948|28581210|28771251,.,.,12641462|17044014|19578023|20301590[PMID]|22334370|22968130|24265693|24760071|24938718|25472526|26667666|28559085|30646425|8075643|8075643[PMID]|8394174|8595886,.,.,.,.,.,11163241|26539891|28422131|28422131[PMID],.,.,.,24250268|27210743,10466419|10735634|11735025|21394825|21480867|22976768|23917744|4221470|6821579|7550232|7951228|8328452|8664897|8680403[PMID]|9391892,.,25342176|31125047,.,.,.,.,.,12101226|26480814|27094857|28408745|28955726|30356033|31041561|32075774|9524128,.,.,22466610|22466610[PMID]_22466611[PMID]_22466612[PMID],.,.,.,.,.,10053006|10053006[PMID]_18076102[PMID]|10215410|10671061|10696568|10914960[PMID]|11055896|11406607|11467490|15909185|16411219|16441300|16501574|16501574[PMID]|16912704|17033969|17033969[PMID]_24864036[PMID]|18076102|18818193|194190|19449430|20301540[PMID]|20301588[PMID]_20301628[PMID]_21438135[PMID]|20301628[PMID]|20301650[PMID]_23149434[PMID]|21536014|23149434[PMID]|24864036|27139183|28249712|28483234|7493034|7647778|7670477|7758520|7773297|7847369|7913883|8078586|8589686|8630492|8640234|8845844|8880573|8880574|9042914|9279753|9300656|9450868|9452043|9580776,26960370|27287194|30378700|30773800|36055214,19483677|26633542|28600779|29760529|29892088|30244530|30345613|31171569|9618163,.,.,.,.,11310630|15328569|16802720|19807691|26511242,.,.,.,.,.,.,.,.,.,11381256|12900899|17147794|17321449|17368082|19038533|22153076|22153077|22640988|24382142|24916406|26064398|NULL,.,.,.,.,.,.,11264541|17181545[PMID]|20301482[PMID]_21566141[PMID]|248284|26740508|27329733|7550343|7618107|7774020|8401587|8458085,.,.,.,16794080|16917026|17439981|18626973|19261599|19261599[PMID]|20147321|20301347[PMID]|29395672|31453852|32360404,23830514|25525168,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,1054139|10742093|10815578|11369996|11369996[PMID]|12097313|12807959|15264286|15354328|16498076|26502894|4521949|8466837|8469557|8696335|9742121|NULL,.,.,.,.,16404586|17024374|17547743|19810119|19876929|225500|22616035|23220543|23220543[PMID]_22791528[PMID]_12571802[PMID]_12468274[PMID]|23220543[PMID]_22791528[PMID]_16404586[PMID],10700184|10700184[PMID]|12468274|12571802|14217223|17024374|21815252|23220543|23220543[PMID]_22791528[PMID]_19744229[PMID]_18947413[PMID]|26748586|29321360|30076350|7218275|7628126,.,.,.,.,.,10521293|11161832|11295831|11317648|11709537|11709538|12073007|12107816|12707373|12754709|12955714|14724730|15070927|15151504|15277431|15503287|15605410|16151413|16442662|16459465|16648378|16806192|16806192[PMID]_12913071[PMID]|17492394|17568405|18544103|18660851|18806274|19042979|19160074|20069065|20069065[PMID]_20301750[PMID]|20301607[PMID]_24148127[PMID]|20875904|21067485|21446023|21538838|21564155|21602428|21623591|21726277|21823543|21968327|22226368|222300|22238590|22311385|22781099|23103830|23373429|23531866|23531866[PMID]|243330|248846|251462|25250959|25390390|27395765|28802351|29529044|31313226|31555371|34014271|35018440|606201|9771706,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,18423520|18423520[PMID]_25574057[PMID]|19379485|25574057|29140751,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;NCBI_gene_ID=.,152687,255403,642280,654254,7700,693156,79963,170960,54872,112441426,.,5158,521,4636,84179,10336,100129917,10815,2580,84286,1609,10861,3425,53834,285498,.,100379220,10417,.,285463,1487,92070,10296,57654,54729,152877,7884,92305,10460,2261,3954,7468,677770,7469,100126332,401115,339983,353497,79441,10608,100616358,57732,402160,6047,8603,79155,6452,118,10227,317648,8602,2868,100750326,3064,345222,6002,3083,285489,4043,285492,100133461,152,348926,133060,85013,55646,166793,27065,53407,104472519,100507266,109623454,.,103695434,4487,.,54360,55351,10141,132884,2121,1400,100616201,389197,152789,285484,7466,5522,23324,93621,105374366,.,339988,6286,114932,55330,9778,57533,.,257236,93624,80273,730971,57537,100616471,768239,100422826,84740,60312,.,84448,407052,54436,726,105374374,8310,152992,27201,8532,3166,100287045,100287144,100287178,100287205,100287238,100288520,100287327,100287364,100287404,100287441,100287478,100287513,728369,728373,728379,728386,728393,728400,728405,391627,728419,391622;OMIM_ID=194648|616918|180072|605032|610130|252800|612041|602618|614632|134934|604407|602952|610647|602104|102680|613004|610285|104225|104250|142983|607261|604831|606201|142992,.,.,.,.,194648,.,.,.,616918,.,.,180072,.,.,.,.,.,605032,.,.,.,610130,252800,.,612041,.,.,.,.,.,602618,.,.,614632,.,.,.,.,.,134934,604407,602952,.,.,.,.,610647,.,.,.,.,.,.,.,.,.,602104,102680,.,.,.,.,.,613004,.,.,.,610285,104225,.,.,104250,.,.,.,.,.,.,.,.,.,.,.,.,142983,.,.,.,.,607261,604831,.,.,.,.,.,606201,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,142992,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;OMIM_phenotype=.,.,.,.,.,?Polydactyly,_postaxial,_type_A6,_615226_(3)_AR,.,.,.,Neurodevelopmental_disorder_with_or_without_hypotonia,_seizures,_and_cerebellar_atrophy,_616917_(3)_AR|[Blood_group,_EMM_system],_619812_(3)_AR,.,.,Night_blindness,_congenital_stationary,_AD_2,_163500_(3)_AD|Retinitis_pigmentosa-40,_613801_(3)_AR,.,.,.,.,.,Developmental_and_epileptic_encephalopathy_63,_617976_(3)_AR,.,.,.,?Hypersulfaturia,_620372_(3)_AR|?Nephrolithiasis,_calcium_oxalate,_1,_167030_(3)_AR,Mucopolysaccharidosis_Ih,_607014_(3)_AR|Mucopolysaccharidosis_Ih/s,_607015_(3)_AR|Mucopolysaccharidosis_Is,_607016_(3)_AR,.,?Spermatogenic_failure_62,_619673_(3)_AR|Recombination_rate_QTL_1,_612042_(3),.,.,.,.,.,Hypotonia,_ataxia,_developmental_delay,_and_tooth_enamel_defect_syndrome,_617915_(3)_AD,.,.,UV-sensitive_syndrome_3,_614640_(3)_AR,.,.,.,.,.,Achondroplasia,_100800_(3)_AD|Bladder_cancer,_somatic,_109800_(3)|CATSHL_syndrome,_610474_(3)_AD,AR|Cervical_cancer,_somatic,_603956_(3)|Colorectal_cancer,_somatic,_114500_(3)|Crouzon_syndrome_with_acanthosis_nigricans,_612247_(3)_AD|Hypochondroplasia,_146000_(3)_AD|LADD_syndrome_2,_620192_(3)_AD|Muenke_syndrome,_602849_(3)_AD|Nevus,_epidermal,_somatic,_162900_(3)|SADDAN,_616482_(3)_AD|Spermatocytic_seminoma,_somatic,_273300_(3)|Thanatophoric_dysplasia,_type_I,_187600_(3)_AD|Thanatophoric_dysplasia,_type_II,_187601_(3)_AD,Neurodegeneration,_childhood-onset,_with_multisystem_involvement_due_to_mitochondrial_dysfunction,_620089_(3)_AR,Rauch-Steindl_syndrome,_619695_(3)_AD,.,.,.,.,?N-acetylaspartate_deficiency,_614063_(3)_AR,.,.,.,.,.,.,.,.,.,Cherubism,_118400_(3)_AD,(Hypertension,_essential,_salt-sensitive),_145500_(3)_Multifactorial,.,.,.,.,.,Huntington_disease,_143100_(3)_AD|Lopes-Maciel-Rodan_syndrome,_617435_(3)_AR,.,.,.,Fetal_akinesia_deformation_sequence_3,_618389_(3)_AR|Myasthenic_syndrome,_congenital,_10,_254300_(3)_AR,Myopia_23,_AR,_615431_(3)_AR,.,.,(Congestive_heart_failure_and_beta-blocker_response,_modifier_of)_(3),.,.,.,.,.,.,.,.,.,.,.,.,Ectodermal_dysplasia_3,_Witkop_type,_189500_(3)_AD|Orofacial_cleft_5,_608874_(3)_AD|Tooth_agenesis,_selective,_1,_with_or_without_orofacial_cleft,_106600_(3)_AD,.,.,.,.,Ellis-van_Creveld_syndrome,_225500_(3)_AR|Weyers_acrofacial_dysostosis,_193530_(3)_AD,?Weyers_acrofacial_dysostosis,_193530_(3)_AD|Ellis-van_Creveld_syndrome,_225500_(3)_AR,.,.,.,.,.,?Cataract_41,_116400_(3)_AD|Deafness,_AD_6/14/38,_600965_(3)_AD|Wolfram_syndrome_1,_222300_(3)_AR|Wolfram-like_syndrome,_AD,_614296_(3)_AD|(Diabetes_mellitus,_noninsulin-dependent,_association_with),_125853_(3)_AD,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Oculoauricular_syndrome,_612109_(3)_AR,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;OMIM_inheritance=.,.,.,.,.,AR,.,.,.,AR,.,.,AD|AR,.,.,.,.,.,AR,.,.,.,AR,AR,.,AR,.,.,.,.,.,AD,.,.,AR,.,.,.,.,.,AD|AD,AR,AR,AD,.,.,.,.,AR,.,.,.,.,.,.,.,.,.,AD,Multifactorial,.,.,.,.,.,AD|AR,.,.,.,AR,AR,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,AD,.,.,.,.,AD|AR,AD|AR,.,.,.,.,.,AD|AR,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,AR,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;OMIM_morbid=yes,.,.,.,.,.,.,.,.,yes,.,.,yes,.,.,.,.,.,yes,.,.,.,.,yes,.,yes,.,.,.,.,.,yes,.,.,yes,.,.,.,.,.,yes,yes,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,.,.,yes,.,.,.,yes,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,yes,yes,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;OMIM_morbid_candidate=yes,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,.,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,.,yes,.,.,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;LOEUF_bin=0,6,.,.,7,7,.,.,9,5,.,.,6,.,9,.,1,.,2,1,6,3,8,6,3,4,.,.,9,.,.,1,.,2,7,3,6,4,8,3,3,3,.,.,2,.,7,2,7,6,2,.,2,.,2,0,3,6,1,7,.,2,6,.,0,2,3,4,5,6,8,.,3,.,9,8,5,4,7,5,.,.,.,.,.,5,.,9,5,.,5,5,1,.,7,0,.,9,1,5,6,.,.,.,9,8,9,0,2,.,8,2,4,.,2,.,.,.,.,3,.,2,.,7,6,.,5,7,9,9,3,9,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;GnomAD_pLI=1,0.3055,.,.,0.098159,0.10393,.,.,0.094789,5.4258e-15,.,.,2.6155e-27,.,8.4023e-14,.,0.95326,.,0.82499,0.0051818,3.0549e-09,1.7603e-09,1.0564e-11,3.7599e-13,0.011908,0.0015645,.,.,2.6609e-15,.,.,0.98442,.,0.22741,5.4127e-25,0.71465,0.0035705,0.068148,2.3074e-11,2.7082e-07,1.6432e-05,1.2141e-06,.,.,0.13469,.,0.51423,0.86458,9.488e-41,1.2992e-09,0.77635,.,0.07234,.,0.79973,0.99993,0.0015926,1.156e-11,0.9883,7.3331e-11,.,2.1363e-06,1.6286e-15,.,1,0.80456,4.0922e-09,1.9843e-08,0.00010263,4.4951e-07,0.45772,.,0.50159,.,4.8437e-24,0.00019994,3.758e-07,1.3752e-08,0.0088286,2.4881e-07,.,.,.,.,.,0.16517,.,1.0733e-05,4.9116e-08,.,1.0207e-34,3.4620000000000003e-25,0.99173,.,7.736100000000001e-19,0.99986,.,1.6230999999999999e-38,0.89954,6.557e-23,0.31404,.,.,.,0.033257,0.0025481,0.10151,0.99999,0.039267,.,1.9555e-17,0.72366,0.13916,.,0.0031696,.,.,.,.,2.3828e-07,.,0.0045858,.,6.0939e-35,6.5843e-08,.,7.6016e-16,2.0315e-22,2.6834e-06,8.8063e-36,0.72623,0.28656,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;ExAC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GT 1/. +4 71553 . G . PASS AnnotSV_ID=4_71553_9371067_DEL_1;SV_start=71553;Biologist_annotation=4p-_syndrom;Biologist_ranking=Pathogenic;Annotation_mode=full,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split;CytoBand=p16.3-p16.1,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3,p16.3-p16.2,p16.3,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2,p16.2-p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1,p16.1;Gene_name=ZNF595|ZNF718|ZNF876P|ZNF732|ZNF141|MIR571|ABCA11P|ZNF721|PIGG|TMEM271|LOC105374338|PDE6B|ATP5ME|MYL5|SLC49A3|PCGF3|PCGF3-AS1|CPLX1|GAK|TMEM175|DGKQ|SLC26A1|IDUA|FGFRL1|RNF212|LOC105374344|TMED11P|SPON2|LOC100130872|CTBP1-AS|CTBP1|CTBP1-DT|MAEA|UVSSA|NKX1-1|FAM53A|SLBP|TMEM129|TACC3|FGFR3|LETM1|NSD2|SCARNA22|NELFA|MIR943|C4orf48|NAT8L|POLN|HAUS3|MXD4|MIR4800|ZFYVE28|CFAP99|RNF4|FAM193A|TNIP2|SH3BP2|ADD1|MFSD10|NOP14-AS1|NOP14|GRK4|HTT-AS|HTT|MSANTD1|RGS12|HGFAC|DOK7|LRPAP1|LINC00955|LINC02171|ADRA2C|FAM86EP|OTOP1|TMEM128|LYAR|ZBTB49|NSG1|STX18|STX18-IT1|STX18-AS1|SNORD162|LOC101928279|LINC01396|MSX1|LOC101928306|CYTL1|STK32B|LINC01587|EVC2|EVC|CRMP1|MIR378D1|C4orf50|JAKMIP1|JAKMIP1-DT|WFS1|PPP2R2C|MAN2B2|MRFAP1|LINC02482|LOC93622|LINC02481|S100P|MRFAP1L1|BLOC1S4|KIAA0232|TBC1D14|LOC100129931|CCDC96|TADA2B|GRPEL1|LINC02447|SORCS2|MIR4798|PSAPL1|MIR4274|AFAP1-AS1|AFAP1|LOC389199|ABLIM2|MIR95|SH3TC1|HTRA3|LINC02517|ACOX3|TRMT44|GPR78|CPZ|HMX1|FAM90A26|USP17L10|USP17L11|USP17L12|USP17L13|USP17L15|USP17L17|USP17L18|USP17L19|USP17L20|USP17L21|USP17L22|USP17L24|USP17L25|USP17L26|USP17L5|USP17L27|USP17L28|USP17L29|USP17L9P|USP17L30|USP17L6P,ZNF595,ZNF718,ZNF876P,ZNF732,ZNF141,MIR571,ABCA11P,ZNF721,PIGG,TMEM271,LOC105374338,PDE6B,ATP5ME,MYL5,SLC49A3,PCGF3,PCGF3-AS1,CPLX1,GAK,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,LOC105374344,TMED11P,SPON2,LOC100130872,CTBP1-AS,CTBP1,CTBP1-DT,MAEA,UVSSA,NKX1-1,FAM53A,SLBP,TMEM129,TACC3,FGFR3,LETM1,NSD2,SCARNA22,NELFA,MIR943,C4orf48,NAT8L,POLN,HAUS3,MXD4,MIR4800,ZFYVE28,CFAP99,RNF4,FAM193A,TNIP2,SH3BP2,ADD1,MFSD10,NOP14-AS1,NOP14,GRK4,HTT-AS,HTT,MSANTD1,RGS12,HGFAC,DOK7,LRPAP1,LINC00955,LINC02171,ADRA2C,FAM86EP,OTOP1,TMEM128,LYAR,ZBTB49,NSG1,STX18,STX18-IT1,STX18-AS1,SNORD162,LOC101928279,LINC01396,MSX1,LOC101928306,CYTL1,STK32B,LINC01587,EVC2,EVC,CRMP1,MIR378D1,C4orf50,JAKMIP1,JAKMIP1-DT,WFS1,PPP2R2C,MAN2B2,MRFAP1,LINC02482,LOC93622,LINC02481,S100P,MRFAP1L1,BLOC1S4,KIAA0232,TBC1D14,LOC100129931,CCDC96,TADA2B,GRPEL1,LINC02447,SORCS2,MIR4798,PSAPL1,MIR4274,AFAP1-AS1,AFAP1,LOC389199,ABLIM2,MIR95,SH3TC1,HTRA3,LINC02517,ACOX3,TRMT44,GPR78,CPZ,HMX1,FAM90A26,USP17L10,USP17L11,USP17L12,USP17L13,USP17L15,USP17L17,USP17L18,USP17L19,USP17L20,USP17L21,USP17L22,USP17L24,USP17L25,USP17L26,USP17L5,USP17L27,USP17L28,USP17L29,USP17L9P,USP17L30,USP17L6P;Closest_right=DEFB131A;Gene_count=152;Tx=.,NM_001286052,NM_001039127,NR_027481,NM_001137608,NM_003441,NR_030297,NR_002451,NM_133474,NM_001127178,NM_001362796,NR_148199,NM_000283,NM_007100,NM_001395441,NM_001294341,NM_001317836,NR_171661,NM_006651,NM_005255,NM_032326,NM_001347,NM_022042,NM_000203,NM_001004356,NM_001131034,NR_134676,NR_033768,NM_001199021,NR_024569,NR_104331,NM_001377186,NR_033339,NM_001017405,NM_001317934,NM_001290079,NM_001174070,NM_006527,NM_001127266,NM_006342,NM_001163213,NM_012318,NM_001042424,NR_003004,NM_005663,NR_030641,NM_001141936,NM_178557,NM_181808,NM_001303143,NM_006454,NR_039964,NM_020972,NM_001193282,NM_002938,NM_001366318,NM_024309,NM_001145856,NM_001354761,NM_001146069,NR_015453,NM_001291978,NM_182982,NR_045414,NM_002111,NM_001042690,NM_001394155,NM_001297439,NM_001301071,NM_002337,NR_040045,NR_034136,NM_000683,NR_130740,NM_177998,NM_001297551,NM_017816,NM_001330625,NM_001382227,NM_016930,NR_126434,NR_037888,NR_145783,NR_125892,NR_125765,NM_002448,NR_125893,NM_018659,NM_018401,NR_126519,NM_147127,NM_153717,NM_001014809,NR_039608,NM_001364689,NM_001099433,NR_037863,NM_001145853,NM_020416,NM_015274,NM_001272053,NR_134664,NM_138699,NR_147207,NM_005980,NM_203462,NM_018366,NM_001100590,NM_001113361,NR_033828,NM_153376,NM_152293,NM_025196,NR_027441,NM_020777,NR_039961,NM_001085382,NR_036238,NR_026892,NM_001134647,NR_172651,NM_001130083,NR_029511,NM_018986,NM_053044,NR_149125,NM_003501,NM_152544,NM_080819,NM_001014447,NM_018942,NM_001358418,NM_001256852,NM_001256854,NM_001256853,NM_001256855,NM_001256894,NM_001256857,NM_001256859,NM_001256860,NM_001256861,NM_001256862,NM_001256863,NM_001242327,NM_001242326,NM_001242328,NM_001242329,NM_001242330,NM_001242331,NM_001242332,NR_046416,NM_001256867,NR_027279;Tx_version=.,2,6,1,3,4,1,2,4,3,2,1,4,4,1,2,3,1,4,4,4,4,4,5,3,4,1,1,2,1,1,1,1,3,2,1,3,4,2,3,2,3,3,1,5,1,3,4,4,2,3,1,3,4,5,2,4,2,2,2,2,2,3,1,8,2,1,2,2,4,1,1,4,1,3,2,3,2,1,4,1,1,1,1,1,3,1,3,3,1,5,3,3,1,2,2,1,1,4,3,2,1,3,1,3,3,3,2,2,1,3,3,4,1,3,1,2,1,1,2,1,2,1,5,5,1,3,3,5,3,3,3,1,1,1,1,2,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1;Tx_start=.,53214,124382,206388,264463,331602,343945,419223,433776,492998,567668,570956,619361,666224,668330,675617,699620,754230,778744,843064,926247,952674,981444,980831,1005413,1065265,1107426,1108984,1160719,1189570,1203907,1205232,1243227,1283678,1340995,1396719,1641613,1694457,1717678,1723247,1795019,1813205,1873119,1976362,1984449,1988110,2043721,2061053,2073644,2230075,2249158,2251803,2271323,2420681,2470832,2538373,2743374,2819896,2845570,2932293,2937272,2939662,2965297,3064972,3076407,3250885,3287617,3443694,3465032,3505338,3578595,3675319,3768111,3943486,4190452,4237268,4269427,4291977,4388828,4420694,4477847,4543857,4666052,4763486,4846163,4861391,4922534,5016312,5053206,5526295,5564165,5712927,5822490,5925001,5958836,6027925,6202459,6271576,6322307,6576915,6642411,6672454,6675801,6689174,6695604,6709427,6717900,6784453,6911192,7032280,7042575,7045098,7060621,7099150,7194264,7312176,7432011,7461754,7755816,7760440,7940727,7967053,8007027,8201016,8271480,8321902,8368008,8442503,8582118,8594491,8868773,9172134,9212382,9217130,9221877,9226621,9236110,9245604,9250355,9255103,9259849,9264597,9269344,9326890,9331636,9336383,9341128,9345873,9350618,9355363,9360107,9364854,9369599;Tx_end=.,88096,157952,249774,299263,378657,344041,467998,492945,533989,570084,578655,664571,668065,675817,682940,763877,775637,819917,926104,952444,967357,987192,998352,1020686,1107352,1126763,1116952,1202632,1202750,1212379,1242918,1246795,1333925,1381837,1400230,1686040,1714046,1723050,1746898,1810594,1857883,1983919,1976487,2010701,1988204,2045691,2070816,2243848,2243848,2263836,2251883,2420372,2464729,2517584,2734300,2758063,2842823,2931789,2936552,2952805,2965133,3042487,3076241,3245687,3258340,3441640,3451213,3503209,3534149,3592712,3679582,3770253,3957155,4228656,4249950,4291881,4323510,4420785,4543775,4483427,4712665,4666150,4789101,4852554,4865663,4990398,5021185,5502716,5529528,5710286,5816032,5894813,5925055,6020273,6202276,6235663,6304992,6474341,6625089,6644456,6675608,6677774,6692246,6698897,6711592,6719391,6885891,7034841,7047958,7044728,7059679,7069791,7105103,7744554,7312251,7436657,7461845,7780655,7941588,7942023,8160540,8007108,8242830,8308825,8325692,8442450,8478282,8591750,8621479,8873565,9178456,9213975,9218723,9223470,9228214,9237772,9247197,9251948,9256696,9261442,9266190,9270937,9328483,9333229,9337976,9342721,9347466,9352211,9356956,9361700,9366447,9370796;Overlapped_tx_length=.,16544,33570,43386,34800,47055,96,48775,59169,40991,2416,7699,45210,1841,7487,7323,64257,21407,41173,83040,26197,14683,5748,17521,15273,42087,19337,7968,41913,13180,8472,37686,3568,50247,40842,3511,44427,19589,5372,23651,15575,44678,110800,125,26252,94,1970,9763,170204,13773,14678,80,149049,44048,46752,195927,14689,22927,86219,4259,15533,25471,77190,11269,169280,7455,154023,7519,38177,28811,14117,4263,2142,13669,38204,12682,22454,31533,31957,123081,5580,168808,98,25615,6391,4272,67864,4873,449510,3233,146121,103105,72323,54,61437,174351,33204,33416,152034,48174,2045,3154,1973,3072,3293,2165,1491,101438,123649,15678,2153,14581,9170,5953,550290,75,4646,91,24839,181148,1296,193487,81,41814,37345,3790,74442,35779,9632,26988,4792,6322,1593,1593,1593,1593,1662,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1197;Overlapped_CDS_length=.,1709,1239,0,1758,1425,0,0,2772,2952,1158,0,2565,210,522,1683,729,0,405,3936,1515,2829,2106,1962,1515,894,0,0,996,0,0,1326,0,1191,2130,1347,1197,813,1089,2517,2427,2220,4098,0,1587,0,288,909,2703,1812,630,0,2664,1941,573,4548,1290,1857,2400,1368,0,2574,1737,0,9429,837,4344,1989,1827,1074,0,0,1389,0,1839,498,1140,2298,585,1008,0,0,0,0,0,912,0,411,1245,0,3927,2979,2061,0,4527,2496,0,2673,1344,3030,384,0,360,0,288,384,654,4188,2082,0,1668,1263,654,0,3480,0,1566,0,0,2445,0,1938,0,4011,1362,0,2103,2274,1092,1959,1047,1395,1593,1593,1593,1593,1662,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,1593,0,1593,0;Overlapped_CDS_percent=.,92,100,0,100,100,0,0,100,100,83,0,100,100,100,100,100,0,100,100,100,100,100,100,100,100,0,0,100,0,0,100,0,100,100,100,100,100,100,100,100,100,100,0,100,0,100,100,100,100,100,0,100,100,100,100,100,100,100,100,0,100,100,0,100,100,100,100,100,100,0,0,72,0,100,100,100,100,100,100,0,0,0,0,0,100,0,100,100,0,100,100,100,0,100,100,0,100,100,100,96,0,19,0,100,61,44,100,100,0,96,100,100,0,100,0,96,0,0,100,0,100,0,100,100,0,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,0,100,0;Frameshift=.,yes,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no;Exon_count=.,8,6,2,4,4,1,3,3,13,1,3,22,4,9,10,12,3,4,28,11,23,3,14,7,10,3,4,8,4,6,9,2,9,14,2,5,8,4,16,18,14,22,1,11,1,4,3,26,6,6,1,13,16,8,21,6,13,16,13,4,18,16,3,67,3,18,15,10,8,3,3,1,4,6,5,10,8,6,11,4,6,1,3,4,2,3,4,12,4,22,21,14,1,12,21,4,8,9,19,3,2,1,3,2,2,1,9,14,4,1,2,4,2,27,1,1,1,2,18,1,21,1,18,9,4,18,11,3,11,2,7,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1;Location=.,intron2-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd;Location2=.,CDS-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,UTR,UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR;Dist_nearest_SS=.,12103,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;Nearest_SS_type=.,5',.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;Intersect_start=.,71552,124382,206388,264463,331602,343945,419223,433776,492998,567668,570956,619361,666224,668330,675617,699620,754230,778744,843064,926247,952674,981444,980831,1005413,1065265,1107426,1108984,1160719,1189570,1203907,1205232,1243227,1283678,1340995,1396719,1641613,1694457,1717678,1723247,1795019,1813205,1873119,1976362,1984449,1988110,2043721,2061053,2073644,2230075,2249158,2251803,2271323,2420681,2470832,2538373,2743374,2819896,2845570,2932293,2937272,2939662,2965297,3064972,3076407,3250885,3287617,3443694,3465032,3505338,3578595,3675319,3768111,3943486,4190452,4237268,4269427,4291977,4388828,4420694,4477847,4543857,4666052,4763486,4846163,4861391,4922534,5016312,5053206,5526295,5564165,5712927,5822490,5925001,5958836,6027925,6202459,6271576,6322307,6576915,6642411,6672454,6675801,6689174,6695604,6709427,6717900,6784453,6911192,7032280,7042575,7045098,7060621,7099150,7194264,7312176,7432011,7461754,7755816,7760440,7940727,7967053,8007027,8201016,8271480,8321902,8368008,8442503,8582118,8594491,8868773,9172134,9212382,9217130,9221877,9226621,9236110,9245604,9250355,9255103,9259849,9264597,9269344,9326890,9331636,9336383,9341128,9345873,9350618,9355363,9360107,9364854,9369599;Intersect_end=.,88096,157952,249774,299263,378657,344041,467998,492945,533989,570084,578655,664571,668065,675817,682940,763877,775637,819917,926104,952444,967357,987192,998352,1020686,1107352,1126763,1116952,1202632,1202750,1212379,1242918,1246795,1333925,1381837,1400230,1686040,1714046,1723050,1746898,1810594,1857883,1983919,1976487,2010701,1988204,2045691,2070816,2243848,2243848,2263836,2251883,2420372,2464729,2517584,2734300,2758063,2842823,2931789,2936552,2952805,2965133,3042487,3076241,3245687,3258340,3441640,3451213,3503209,3534149,3592712,3679582,3770253,3957155,4228656,4249950,4291881,4323510,4420785,4543775,4483427,4712665,4666150,4789101,4852554,4865663,4990398,5021185,5502716,5529528,5710286,5816032,5894813,5925055,6020273,6202276,6235663,6304992,6474341,6625089,6644456,6675608,6677774,6692246,6698897,6711592,6719391,6885891,7034841,7047958,7044728,7059679,7069791,7105103,7744554,7312251,7436657,7461845,7780655,7941588,7942023,8160540,8007108,8242830,8308825,8325692,8442450,8478282,8591750,8621479,8873565,9178456,9213975,9218723,9223470,9228214,9237772,9247197,9251948,9256696,9261442,9266190,9270937,9328483,9333229,9337976,9342721,9347466,9352211,9356956,9361700,9366447,9370796;RE_gene=ACTC1_(morbid/RE=mTL_miRNA)|ACVR1_(morbid/RE=mTL_miRNA)|AGO2_(morbid/RE=mTL_miRNA)|AKT1_(morbid/RE=mTL_miRNA)|ANTXR2_(morbid/RE=mTL_miRNA)|ARF1_(morbid/RE=mTL_miRNA)|ARHGDIA_(morbid/RE=mTL_miRNA)|ARPC1B_(morbid/RE=mTL_miRNA)|ATXN2_(morbid/RE=mTL_miRNA)|CAD_(morbid/RE=mTL_miRNA)|CALM2_(morbid/RE=mTL_miRNA)|CASK_(morbid/RE=mTL_miRNA)|CCNF_(morbid/RE=mTL_miRNA)|CELF2_(morbid/RE=mTL_miRNA)|CEP55_(morbid/RE=mTL_miRNA)|CIITA_(morbid/RE=mTL_miRNA)|CNTNAP2_(morbid/RE=mTL_miRNA)|COL18A1_(morbid/RE=mTL_miRNA)|COL1A1_(HI=3/morbid/RE=mTL_miRNA)|CREBBP_(HI=3/morbid/RE=mTL_miRNA)|CTCF_(HI=3/morbid/RE=mTL_miRNA)|DAAM2_(morbid/RE=mTL_miRNA)|DDR2_(morbid/RE=mTL_miRNA)|DDX3X_(HI=3/morbid/RE=mTL_miRNA)|EDEM3_(morbid/RE=mTL_miRNA)|EGLN1_(morbid/RE=mTL_miRNA)|ELOVL5_(morbid/RE=mTL_miRNA)|ESCO2_(morbid/RE=mTL_miRNA)|FLCN_(HI=3/morbid/RE=mTL_miRNA)|FLVCR1_(morbid/RE=mTL_miRNA)|FOXC1_(HI=3/morbid/RE=mTL_miRNA)|FOXP2_(morbid/RE=mTL_miRNA)|G6PD_(morbid/RE=mTL_miRNA)|GABRB2_(morbid/RE=mTL_miRNA)|GATA6_(HI=3/morbid/RE=mTL_miRNA)|GLI2_(HI=3/morbid/RE=mTL_miRNA)|GLUL_(morbid/RE=mTL_miRNA)|GNAS_(HI=3/morbid/RE=mTL_miRNA)|HERC2_(morbid/RE=mTL_miRNA)|HFE_(morbid/RE=mTL_miRNA)|IGF1R_(HI=3/morbid/RE=mTL_miRNA)|INF2_(morbid/RE=mTL_miRNA)|ITM2B_(morbid/RE=mTL_miRNA)|KCNJ6_(morbid/RE=mTL_miRNA)|LAMA4_(morbid/RE=mTL_miRNA)|LMNB2_(morbid/RE=mTL_miRNA)|LRP6_(morbid/RE=mTL_miRNA)|MED13_(morbid/RE=mTL_miRNA)|MEN1_(HI=3/morbid/RE=mTL_miRNA)|MMADHC_(morbid/RE=mTL_miRNA)...;P_gain_phen=Retinitis_pigmentosa|Retinitis_pigmentosa_40,.,.,.,.,.,.,.,.,.,.,.,Retinitis_pigmentosa|Retinitis_pigmentosa_40,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_gain_hpo=HP:0000547,.,.,.,.,.,.,.,.,.,.,.,HP:0000547,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_gain_source=CLN:801370|dbVar:nssv15124412|dbVar:nssv15130095|dbVar:nssv15132150|dbVar:nssv15132411|dbVar:nssv15132589|dbVar:nssv15133497|dbVar:nssv15153559|dbVar:nssv15161020|dbVar:nssv16255833|dbVar:nssv16867404|dbVar:nssv17172169|dbVar:nssv17973849|dbVar:nssv18330201,.,.,.,.,.,.,.,.,.,.,.,CLN:801370|dbVar:nssv15161020,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,dbVar:nssv17973849,dbVar:nssv17172169,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_gain_coord=4:127234-8667610|4:1420949-1836794|4:1737489-1808653|4:1770487-2303110|4:374558-745174|4:5567009-5587839|4:5785270-5803831|4:614356-2959936|4:619584-619584|4:619590-619662|4:72448-3848881|4:72448-5608810|4:85041-4597934|4:963689-2913553,.,.,.,.,.,.,.,.,.,.,.,4:619584-619584|4:619590-619662,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,4:5567009-5587839,4:5785270-5803831,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_loss_phen=4p16.3_terminal_(Wolf-Hirschhorn_syndrome)_region|?Cataract_41,_116400_(3)_AD|Deafness,_AD_6|14|38,_600965_(3)_AD|Wolfram_syndrome_1,_222300_(3)_AR|Wolfram-like_syndrome,_AD,_614296_(3)_AD|Diabetes_mellitus,_noninsulin-dependent,_association_with,_125853_(3)_AD|?Spermatogenic_failure_62,_619673_(3)_AR|Recombination_rate_QTL_1,_612042_(3)|?Weyers_acrofacial_dysostosis,_193530_(3)_AD|Ellis-van_Creveld_syndrome,_225500_(3)_AR|Achondroplasia,_100800_(3)_AD|Bladder_cancer,_somatic,_109800_(3)|CATSHL_syndrome,_610474_(3)_AR,AD|Cervical_cancer,_somatic,_603956_(3)|Colorectal_cancer,_somatic,_114500_(3)|Crouzon_syndrome_with_acanthosis_nigricans,_612247_(3)_AD|Hypochondroplasia,_146000_(3)_AD|LADD_syndrome_2,_620192_(3)_AD|Muenke_syndrome,_602849_(3)_AD|Nevus,_epidermal,_somatic,_162900_(3)|SADDAN,_616482_(3)_AD|Spermatocytic_seminoma,_somatic,_273300_(3)|Thanatophoric_dysplasia,_type_I,_187600_(3)_AD|Thanatophoric_dysplasia,_type_II,_187601_(3)_AD|Cherubism,_118400_(3)_AD|Curry-Hall_syndrome|Ellis-van_Creveld_syndrome|Developmental_and_epileptic_encephalopathy_63,_617976_(3)_AR|Ectodermal_dysplasia_3,_Witkop_type,_189500_(3)_AD|Orofacial_cleft_5,_608874_(3)_AD|Tooth_agenesis,_selective,_1,_with_or_without_orofacial_cleft,_106600_(3)_AD|Ellis-van_Creveld_syndrome,_225500_(3)_AR|Weyers_acrofacial_dysostosis,_193530_(3)_AD|Fetal_akinesia_deformation_sequence_3,_618389_(3)_AR|Myasthenic_syndrome,_congenital,_10,_254300_(3)_AR|Huntington_disease,_143100_(3)_AD|Lopes-Maciel-Rodan_syndrome,_617435_(3)_AR|Hurler_syndrome|Hypotonia,_ataxia,_developmental_delay,_and_tooth_enamel_defect_syndrome,_617915_(3)_AD|Mucopolysaccharidosis_Ih,_607014_(3)_AR|Mucopolysaccharidosis_Ih|s,_607015_(3)_AR|Mucopolysaccharidosis_Is,_607016_(3)_AR|Mucopolysaccharidosis_type_1|Myopia_23,_AR,_615431_(3)_AR|Neurodegeneration,_childhood-onset,_with_multisystem_involvement_due_to_mitochondrial_dysfunction,_620089_(3)_AR|Neurodevelopmental_disorder_with_or_without_hypotonia,_seizures,_and_cerebellar_atrophy,_616917_(3)_AR|Blood_group,_EMM_system,_619812_(3)_AR|Night_blindness,_congenital_stationary,_AD_2,_163500_(3)_AD|Retinitis_pigmentosa-40,_613801_(3)_AR|Oculoauricular_syndrome,_612109_(3)_AR|Rauch-Steindl_syndrome,_619695_(3)_AD|UV-sensitive_syndrome_3,_614640_(3)_AR,.,.,.,.,.,.,.,.,Neurodevelopmental_disorder_with_or_without_hypotonia,_seizures,_and_cerebellar_atrophy,_616917_(3)_AR|Blood_group,_EMM_system,_619812_(3)_AR,.,.,Night_blindness,_congenital_stationary,_AD_2,_163500_(3)_AD|Retinitis_pigmentosa-40,_613801_(3)_AR,.,.,.,.,.,Developmental_and_epileptic_encephalopathy_63,_617976_(3)_AR,.,.,.,.,Hurler_syndrome|Mucopolysaccharidosis_Ih,_607014_(3)_AR|Mucopolysaccharidosis_Ih|s,_607015_(3)_AR|Mucopolysaccharidosis_Is,_607016_(3)_AR|Mucopolysaccharidosis_type_1,.,?Spermatogenic_failure_62,_619673_(3)_AR|Recombination_rate_QTL_1,_612042_(3),.,.,.,.,.,.,.,.,UV-sensitive_syndrome_3,_614640_(3)_AR,.,.,.,.,.,Achondroplasia,_100800_(3)_AD|Bladder_cancer,_somatic,_109800_(3)|CATSHL_syndrome,_610474_(3)_AR,AD|Cervical_cancer,_somatic,_603956_(3)|Colorectal_cancer,_somatic,_114500_(3)|Crouzon_syndrome_with_acanthosis_nigricans,_612247_(3)_AD|Hypochondroplasia,_146000_(3)_AD|LADD_syndrome_2,_620192_(3)_AD|Muenke_syndrome,_602849_(3)_AD|Nevus,_epidermal,_somatic,_162900_(3)|SADDAN,_616482_(3)_AD|Spermatocytic_seminoma,_somatic,_273300_(3)|Thanatophoric_dysplasia,_type_I,_187600_(3)_AD|Thanatophoric_dysplasia,_type_II,_187601_(3)_AD,Neurodegeneration,_childhood-onset,_with_multisystem_involvement_due_to_mitochondrial_dysfunction,_620089_(3)_AR,Rauch-Steindl_syndrome,_619695_(3)_AD,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Cherubism,_118400_(3)_AD,.,.,.,.,.,.,Huntington_disease,_143100_(3)_AD|Lopes-Maciel-Rodan_syndrome,_617435_(3)_AR,.,.,.,Fetal_akinesia_deformation_sequence_3,_618389_(3)_AR|Myasthenic_syndrome,_congenital,_10,_254300_(3)_AR,Myopia_23,_AR,_615431_(3)_AR,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Ectodermal_dysplasia_3,_Witkop_type,_189500_(3)_AD|Orofacial_cleft_5,_608874_(3)_AD|Tooth_agenesis,_selective,_1,_with_or_without_orofacial_cleft,_106600_(3)_AD,.,.,.,.,.,?Weyers_acrofacial_dysostosis,_193530_(3)_AD|Ellis-van_Creveld_syndrome,_225500_(3)_AR|Curry-Hall_syndrome|Ellis-van_Creveld_syndrome,.,.,.,.,.,?Cataract_41,_116400_(3)_AD|Deafness,_AD_6|14|38,_600965_(3)_AD|Wolfram_syndrome_1,_222300_(3)_AR|Wolfram-like_syndrome,_AD,_614296_(3)_AD|Diabetes_mellitus,_noninsulin-dependent,_association_with,_125853_(3)_AD,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Oculoauricular_syndrome,_612109_(3)_AR,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_loss_hpo=HP:0000943,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,HP:0000943,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_loss_source=CLN:1313135|CLN:2672009|CLN:961843|HI3:ISCA-37429|HI3:MSX1|HI3:NSD2|dbVar:nssv15119851|dbVar:nssv15121023|dbVar:nssv15121032|dbVar:nssv15121033|dbVar:nssv15121034|dbVar:nssv15121217|dbVar:nssv15121218|dbVar:nssv15121687|dbVar:nssv15122678|dbVar:nssv15123516|dbVar:nssv15124520|dbVar:nssv15127349|dbVar:nssv15130945|dbVar:nssv15131476|dbVar:nssv15131910|dbVar:nssv15132407|dbVar:nssv15132408|dbVar:nssv15132580|nssv15140019|dbVar:nssv15132953|dbVar:nssv15133489|dbVar:nssv15133490|dbVar:nssv15133634|dbVar:nssv15134794|dbVar:nssv15134826|dbVar:nssv15135086|dbVar:nssv15135107|dbVar:nssv15138367|dbVar:nssv15138802|dbVar:nssv15138941|dbVar:nssv15139309|dbVar:nssv15144315|dbVar:nssv15147286|dbVar:nssv15153560|dbVar:nssv15153562|dbVar:nssv15605891|dbVar:nssv15606061|dbVar:nssv15770186|dbVar:nssv15770321|dbVar:nssv16211870|dbVar:nssv16212102|dbVar:nssv16213046|dbVar:nssv16213271|dbVar:nssv16213451|dbVar:nssv16213572|dbVar:nssv16213637|dbVar:nssv16213802|dbVar:nssv16214176|dbVar:nssv16214333|dbVar:nssv16216714|dbVar:nssv16252200|dbVar:nssv16253953|dbVar:nssv16254938|dbVar:nssv16297119|dbVar:nssv16297131|dbVar:nssv16867405|dbVar:nssv17171362|dbVar:nssv17171376|dbVar:nssv17171391|dbVar:nssv17171923|dbVar:nssv17172168|dbVar:nssv17172572|dbVar:nssv17172573|dbVar:nssv17172574|dbVar:nssv17172955|dbVar:nssv17173143|dbVar:nssv17173159|dbVar:nssv17683620|dbVar:nssv17970729|dbVar:nssv17970732|dbVar:nssv17971217|dbVar:nssv17971266|dbVar:nssv17971361|dbVar:nssv17971686|dbVar:nssv17971734|dbVar:nssv17971799|dbVar:nssv17971904|dbVar:nssv17972056|dbVar:nssv17972166|dbVar:nssv17972432|dbVar:nssv17973718|nssv17974037|dbVar:nssv17973748|dbVar:nssv17974578|dbVar:nssv17975024|dbVar:nssv17976233|dbVar:nssv17976464|dbVar:nssv17976477|dbVar:nssv17976550|dbVar:nssv18326580|dbVar:nssv18786244|dbVar:nssv18786333|dbVar:nssv18787193|dbVar:nssv18788241|dbVar:nssv18788242|dbVar:nssv18788927|dbVar:nssv18788928|dbVar:nssv18790018|dbVar:nssv18790019|dbVar:nssv18790020|dbVar:nssv18790021|dbVar:nssv18790022|dbVar:nssv18790117|dbVar:nssv18790118|dbVar:nssv18790119|dbVar:nssv18790120|dbVar:nssv18790121|dbVar:nssv18790180|dbVar:nssv18790633|dbVar:nssv18791534|dbVar:nssv18791535|dbVar:nssv18791536|dbVar:nssv18791537|dbVar:nssv18791538|dbVar:nssv18791542|dbVar:nssv18830727|morbid:CPLX1|morbid:CTBP1|morbid:DOK7|morbid:EVC|morbid:EVC2|morbid:FGFR3|morbid:HMX1|morbid:HTRA3|morbid:HTT|morbid:IDUA|morbid:LETM1|morbid:LRPAP1|morbid:MSX1|morbid:NSD2|morbid:PDE6B|morbid:PIGG|morbid:RNF212|morbid:SH3BP2|morbid:UVSSA|morbid:WFS1,.,.,.,.,.,.,.,.,dbVar:nssv17683620|dbVar:nssv17974578|dbVar:nssv17976464|dbVar:nssv17976477|dbVar:nssv18791534|dbVar:nssv18791536|dbVar:nssv18791537|dbVar:nssv18791538|morbid:PIGG,.,.,dbVar:nssv16213572|dbVar:nssv16213637|dbVar:nssv17171376|dbVar:nssv17171923|dbVar:nssv18788927|dbVar:nssv18788928|morbid:PDE6B,.,.,.,.,.,morbid:CPLX1,.,.,.,.,CLN:2672009|CLN:961843|dbVar:nssv16216714|dbVar:nssv18830727|morbid:IDUA,.,morbid:RNF212,.,.,.,.,.,.,.,.,morbid:UVSSA,.,.,.,.,.,morbid:FGFR3,morbid:LETM1,morbid:NSD2,.,.,.,.,.,.,.,.,.,.,.,.,.,.,morbid:SH3BP2,.,.,.,.,.,.,morbid:HTT,.,.,.,dbVar:nssv15130945|dbVar:nssv15131476|dbVar:nssv15770186|dbVar:nssv16213451|dbVar:nssv16214333|dbVar:nssv17971686|dbVar:nssv17972166|dbVar:nssv17976550|dbVar:nssv18786333|dbVar:nssv18790180|morbid:DOK7,morbid:LRPAP1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,HI3:MSX1|morbid:MSX1,.,.,.,.,dbVar:nssv15770321|dbVar:nssv16213046|dbVar:nssv16213271|dbVar:nssv16297119|dbVar:nssv17172955|dbVar:nssv17971266|dbVar:nssv17971361|dbVar:nssv17972056|dbVar:nssv18790018|dbVar:nssv18790020|dbVar:nssv18790021|dbVar:nssv18790022,CLN:1313135|dbVar:nssv15144315|dbVar:nssv16211870|dbVar:nssv16297131|dbVar:nssv17172168|dbVar:nssv17172572|dbVar:nssv17172573|dbVar:nssv17172574|dbVar:nssv17971734|dbVar:nssv17973718|nssv17974037|dbVar:nssv17975024|dbVar:nssv18786244|dbVar:nssv18790117|dbVar:nssv18790118|dbVar:nssv18790119|dbVar:nssv18790120|morbid:EVC,.,.,.,.,.,dbVar:nssv18790633|morbid:WFS1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,morbid:HTRA3,.,.,.,.,.,morbid:HMX1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_loss_coord=4:1087097-1107352|4:1190912-2255904|4:1205233-1244143|4:1228529-2862002|4:129754-9371067|4:1305803-2460571|4:1340996-1381837|4:1619776-2181192|4:1701019-1975031|4:1784695-1919793|4:1795020-1810594|4:1813206-1857883|4:1827029-1860753|4:1873124-1983934|4:1902353-1950545|4:1941634-3879802|4:1966267-5913899|4:2009467-3080412|4:2200252-5710240|4:2364202-5447465|4:2820541-2842823|4:2909441-6871516|4:3076408-3245687|4:3085428-7591673|4:331569-2010962|4:3465094-3495238|4:3465104-3465298|4:3475114-3491543|4:3478271-3491403|4:3486271-3496209|4:3487104-3487370|4:3487247-3495248|4:3487257-3487395|4:3487257-3495238|4:3494467-3495228|4:3495083-3495158|4:3505339-3534149|4:3776785-7361544|4:388345-3872380|4:4859066-4864603|4:4861392-4865663|4:4861393-4865663|4:4861628-6304195|4:492999-533989|4:493126-2065854|4:493126-663896|4:493126-998181|4:493969-499930|4:494166-494410|4:499508-502759|4:501175-533158|4:502599-509994|4:507006-2214932|4:509743-533158|4:512203-518547|4:520809-1020391|4:524206-527790|4:5563147-5711294|4:5564166-5711275|4:5564566-5578191|4:5564566-5586587|4:5564566-5759862|4:5564576-5567096|4:5565511-5811251|4:5570162-5570377|4:5576403-5576509|4:5617140-5812774|4:5630277-5633769|4:5630336-5635926|4:5630338-5635927|4:5636440-5710337|4:5642222-5642585|4:5682978-5735172|4:5690875-5691080|4:5690875-5696238|4:5696053-5696238|4:5710004-5750043|4:5711925-5817031|4:5712928-5816032|4:5713109-5714221|4:5713159-5713318|4:5731025-5759862|4:5733143-5735172|4:5749726-5755670|4:5754554-5755670|4:5754554-5758099|4:5754554-5785501|4:5754599-5758602|4:5785270-5812774|4:5795340-5795484|4:5795341-5795483|4:5798730-5798979|4:5798740-5798969|4:5803668-5806578|4:5809919-5811348|4:619417-619883|4:6271577-6304992|4:6279184-6279434|4:629670-670728|4:646966-664571|4:647642-648677|4:651220-652826|4:652722-656427|4:652742-656407|4:660321-661795|4:664193-671649|4:72448-2110334|4:72448-2327204|4:72448-2691306|4:72448-3208040|4:72448-3563382|4:72448-3725774|4:72448-3787112|4:72448-4360445|4:72448-4889835|4:72448-5036718|4:72448-5214111|4:72448-5346537|4:72448-6245152|4:72448-7831152|4:75743-8672411|4:778745-819917|4:78471-3364946|4:8271481-8308825|4:85041-1921232|4:85041-2010262|4:85041-4407509|4:85041-7065426|4:85041-7845343|4:8613755-8873340|4:8868774-8873565|4:980776-981040|4:980776-981747|4:990308-992083|4:990309-992082|4:993498-998345|4:994391-998355|4:996510-998192|4:996511-998191|4:996511-998355,.,.,.,.,.,.,.,.,4:492999-533989|4:493969-499930|4:494166-494410|4:499508-502759|4:501175-533158|4:502599-509994|4:509743-533158|4:512203-518547|4:524206-527790,.,.,4:619417-619883|4:646966-664571|4:647642-648677|4:651220-652826|4:652722-656427|4:652742-656407|4:660321-661795,.,.,.,.,.,4:778745-819917,.,.,.,.,4:990308-992083|4:990309-992082|4:993498-998345|4:996510-998192|4:996511-998191,.,4:1087097-1107352,.,.,.,.,.,.,.,.,4:1340996-1381837,.,.,.,.,.,4:1795020-1810594,4:1813206-1857883,4:1902353-1950545,.,.,.,.,.,.,.,.,.,.,.,.,.,.,4:2820541-2842823,.,.,.,.,.,.,4:3076408-3245687,.,.,.,4:3465094-3495238|4:3465104-3465298|4:3475114-3491543|4:3478271-3491403|4:3486271-3496209|4:3487104-3487370|4:3487247-3495248|4:3487257-3487395|4:3487257-3495238|4:3494467-3495228|4:3495083-3495158,4:3505339-3534149,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,4:4861392-4865663|4:4861393-4865663,.,.,.,.,4:5564566-5578191|4:5564566-5586587|4:5564576-5567096|4:5570162-5570377|4:5576403-5576509|4:5630277-5633769|4:5630336-5635926|4:5630338-5635927|4:5642222-5642585|4:5690875-5691080|4:5690875-5696238|4:5696053-5696238,4:5712928-5816032|4:5713109-5714221|4:5713159-5713318|4:5731025-5759862|4:5733143-5735172|4:5749726-5755670|4:5754554-5755670|4:5754554-5758099|4:5754554-5785501|4:5754599-5758602|4:5785270-5812774|4:5795340-5795484|4:5795341-5795483|4:5798730-5798979|4:5798740-5798969|4:5803668-5806578|4:5809919-5811348,.,.,.,.,.,4:6271577-6304992|4:6279184-6279434,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,4:8271481-8308825,.,.,.,.,.,4:8868774-8873565,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;po_P_gain_source=dbVar:nssv15165478|dbVar:nssv15148693|dbVar:nssv15149137|dbVar:nssv15125120|dbVar:nssv15134956|dbVar:nssv15136789|dbVar:nssv15148117|dbVar:nssv15165480|dbVar:nssv15164282|dbVar:nssv15164281|dbVar:nssv16215300|dbVar:nssv15145847|dbVar:nssv15132087|dbVar:nssv15132302|dbVar:nssv16254944|dbVar:nssv16207938|dbVar:nssv18830986|dbVar:nssv15150724|dbVar:nssv15777261|dbVar:nssv15151365|nssv18326348|dbVar:nssv15150634|dbVar:nssv15142189|dbVar:nssv15149870|nssv15151360|dbVar:nssv17649922|dbVar:nssv15147407|dbVar:nssv15146379|dbVar:nssv15146614|dbVar:nssv15148043|dbVar:nssv15146983|dbVar:nssv15146984|dbVar:nssv17976755|dbVar:nssv18841857|dbVar:nssv18841859|dbVar:nssv15164312|dbVar:nssv18841858|dbVar:nssv15149115;po_P_gain_coord=4:11526-191028879|4:12441-190904441|4:12441-49064044|4:33575-6632513|4:36425-1583294|4:36425-4098729|4:36425-47493612|4:49451-190915650|4:49451-190963766|4:49451-46339070|4:49451-49620898|4:51414-17799819|4:51414-3776843|4:51414-8224525|4:68346-2503033|4:68346-27423424|4:68346-34512694|4:68346-3713599|4:68346-4051616|4:68346-49089361|4:68346-66440622|4:68346-8731855|4:68347-190957473|4:69672-29702595|4:72448-21024037|4:72448-33132242|4:72448-39478764|4:78471-15627196|4:85041-22451641|4:85041-38701987|4:114785-47569569|4:507006-49064194|4:507006-57939396|4:1356925-49659859|4:2906395-42965249|4:6447049-20490737;po_P_gain_percent=4.87|4.87|18.96|99.42|97.73|99.14|19.60|4.87|4.87|20.09|18.76|52.40|99.46|99.75|99.87|34.00|27.00|99.91|99.92|18.97|14.01|99.96|4.87|31.38|44.38|28.13|23.60|59.76|41.52|24.05|19.51|18.25|15.43|16.59|16.14|20.82;po_P_loss_source=dbVar:nssv18330206|dbVar:nssv16254942|dbVar:nssv15140532|dbVar:nssv15129769|dbVar:nssv15124924|dbVar:nssv15139152|dbVar:nssv15136460|dbVar:nssv15138769|dbVar:nssv15136794|dbVar:nssv15139111|dbVar:nssv15145893|dbVar:nssv15145934|dbVar:nssv15134095|dbVar:nssv15147322|dbVar:nssv8639431|dbVar:nssv15164280|dbVar:nssv16208663|dbVar:nssv15123439|dbVar:nssv15135098|dbVar:nssv15146364|dbVar:nssv15121022|dbVar:nssv15119845|dbVar:nssv16207942|dbVar:nssv15151269|dbVar:nssv15149902|dbVar:nssv15146789|dbVar:nssv17976873|dbVar:nssv15151109|dbVar:nssv17957198|dbVar:nssv15137532|dbVar:nssv15148266|dbVar:nssv17956854|dbVar:nssv17976719|dbVar:nssv16254943|dbVar:nssv16207937|dbVar:nssv15152168|dbVar:nssv15141218|dbVar:nssv16254952|dbVar:nssv15150277|dbVar:nssv17976824|dbVar:nssv16254953|dbVar:nssv15139308|dbVar:nssv16207941|dbVar:nssv15138820|nssv16207940|dbVar:nssv16207939|dbVar:nssv18330137|dbVar:nssv18330792|dbVar:nssv17649921|dbVar:nssv15150501|dbVar:nssv15146961|dbVar:nssv15146716|dbVar:nssv15147405|dbVar:nssv15146665|dbVar:nssv15146669|dbVar:nssv15146272|dbVar:nssv15146661|dbVar:nssv15146276|dbVar:nssv15774427|dbVar:nssv15151369|dbVar:nssv15145981|dbVar:nssv16207944;po_P_loss_coord=4:2-12785001|4:2-1328868|4:29215-1925508|4:33575-2356516|4:33575-4534781|4:36425-1957819|4:36425-3267258|4:36425-3883057|4:36425-3975771|4:36425-7361544|4:36425-9371067|4:37337-15870679|4:37337-3776839|4:37337-9370984|4:44021-19796182|4:49451-2010397|4:49451-24280482|4:49451-8872474|4:51414-1399150|4:56773-14501384|4:56773-2214932|4:56773-3872380|4:68346-10312798|4:68346-10336032|4:68346-13770107|4:68346-14614077|4:68346-1512353|4:68346-15973383|4:68346-1675143|4:68346-1999185|4:68346-20387231|4:68346-20587167|4:68346-20964575|4:68346-2137211|4:68346-2786584|4:68346-3891984|4:68346-4044985|4:68346-5046326|4:68346-5319773|4:68346-5579467|4:68346-5831521|4:68346-6056753|4:68346-6984507|4:68346-8731855|4:68346-9768141|4:68347-12369983|4:68347-2437290|4:68599-18912995|4:71553-15302739|4:71553-29006745|4:72448-10252290|4:72448-12900236|4:72448-15659658|4:72448-17279636|4:72448-28067931|4:78471-10337237|4:85041-17488365|4:3374196-13468480|4:4165335-33324781|4:4428131-17462172|4:5914110-17264668;po_P_loss_percent=72.74|94.62|97.77|98.37|99.16|98.17|98.91|99.09|99.11|99.52|99.62|58.73|99.09|99.63|47.08|98.87|38.38|99.75|98.51|64.38|99.32|99.61|90.78|90.57|67.87|63.93|99.78|58.47|99.80|99.83|45.77|45.32|44.50|99.84|99.88|99.92|99.92|99.94|99.94|99.94|99.94|99.95|99.95|99.96|95.87|75.60|99.86|49.35|61.06|32.14|91.34|72.49|59.66|54.04|33.21|90.58|53.36|59.41|17.85|37.92|30.46;P_snvindel_nb=809,.,.,.,.,.,.,.,.,48,.,.,71,.,.,.,.,.,1,.,.,.,19,190,.,.,.,.,.,.,1,1,.,.,1,.,.,.,.,.,36,.,27,.,.,.,.,.,.,.,.,.,.,.,.,.,.,7,.,.,.,.,.,.,3,.,.,.,44,1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,6,.,.,.,.,142,115,.,.,.,1,.,114,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_snvindel_phen=4p_partial_monosomy_syndrome|Abnormality_of_mucopolysaccharide_metabolism|Abnormality_of_the_cervical_spine|Abnormality_of_the_diaphragm|Abnormality_of_the_musculature|Abnormality_of_the_nervous_system|Abnormality_of_the_vertebral_column|Acanthosis_nigricans|Achondroplasia|Arachnodactyly|Autosomal_dominant_nonsyndromic_hearing_loss_6|Autosomal_recessive_retinitis_pigmentosa|Bell-shaped_thorax|Bowed_humerus|Camptodactyly-tall_stature-scoliosis-hearing_loss_syndrome|Carcinoma|Carcinoma_of_colon|Cataract_41|Cerebellar_vermis_hypoplasia|Cervical_cancer|Cleft_palate|Colorectal_cancer|Cone-rod_dystrophy|Congenital_Stationary_Night_Blindness,_Dominant|Congenital_laryngomalacia|Congenital_myasthenic_syndrome|Congenital_myasthenic_syndrome_10|Congenital_stationary_night_blindness_autosomal_dominant_2|Connective_tissue_disorder|Coronal_craniosynostosis|Craniosynostosis_syndrome|Crouzon_syndrome|Crouzon_syndrome-acanthosis_nigricans_syndrome|Curry-Hall_syndrome|DOK7-related_condition|Dandy-Walker_syndrome|Developmental_and_epileptic_encephalopathy,_63|Diabetes_mellitus|Diaphragmatic_eventration|Disproportionate_short-limb_short_stature|Duane_retraction_syndrome|EVC-related_condition|EVC2-related_condition|Ellis-van_Creveld_syndrome|Emm-null_phenotype|Epidermal_nevus|FGFR3-Related_Disorders|FGFR3-related_chondrodysplasia|FGFR3-related_condition|FGFR3-related_disorder|Facial_asymmetry|Feeding_difficulties|Femoral_bowing|Fetal_akinesia_deformation_sequence_1|Fetal_akinesia_deformation_sequence_3|Fibrous_dysplasia_of_jaw|Generalized_non-motor_(absence)_seizure|Germ_cell_tumor_of_testis|Global_developmental_delay|Growth_delay|Hamartoma|Hurler_syndrome|Hydronephrosis|Hydroureter|Hypochondroplasia|Hypoplastic_enamel-onycholysis-hypohidrosis_syndrome|Hypotonia,_ataxia,_developmental_delay,_and_tooth_enamel_defect_syndrome|IDUA-related_condition|Inborn_genetic_diseases|Infantile_axial_hypotonia|Intellectual_disability,_autosomal_recessive_53|Interstitial_pneumonitis|Isolated_microphthalmia_6|Jeune_thoracic_dystrophy|Larsen_syndrome|Leber_congenital_amaurosis|Lethal_short-limbed_short_stature|Levy-Hollister_syndrome|Lower_limb_undergrowth|Lung_adenocarcinoma|MSX1-related_condition|Malignant_tumor_of_testis|Malignant_tumor_of_urinary_bladder|Microglossia|Micrognathia|Mucopolysaccharidosis|Mucopolysaccharidosis,_MPS-I-H/S|Mucopolysaccharidosis,_MPS-I-S|Mucopolysaccharidosis,_MPS-IV-A|Mucopolysaccharidosis_type_1|Mucopolysacchariduria|Muenke_syndrome|Multiple_myeloma|Myopia_23,_autosomal_recessive|NSD2_related_disorders|Narrow_chest|Neurodevelopmental_delay|Night_blindness|Nonsyndromic_genetic_hearing_loss|PDE6B-Related_Disorders|PDE6B-related_condition|PDE6B-related_disorder|PIGG-related_condition|Papillary_renal_cell_carcinoma,_sporadic|Rare_genetic_deafness|Rauch-Steindl_syndrome|Retinal_dystrophy|Retinitis_pigmentosa|Retinitis_pigmentosa_40|Rett_syndrome|Rod-cone_dystrophy|SEVERE_ACHONDRODYSPLASIA_WITH_DEVELOPMENTAL_DELAY_AND_ACANTHOSIS_NIGRICANS|Saethre-Chotzen_syndrome|Seborrheic_keratosis|See_cases|Seizure|Sensorineural_hearing_loss_disorder|Severe_achondroplasia-developmental_delay-acanthosis_nigricans_syndrome|Short-rib_thoracic_dysplasia_6_with_or_without_polydactyly|Short_ribs|Short_stature|Skeletal_dysplasia|Skeletal_dysplasia_with_acanthosis_nigricans|Small_for_gestational_age|Small_hand|Smith-Magenis_Syndrome-like|Spermatocytic_seminoma|Squamous_cell_carcinoma_of_the_head_and_neck|Squamous_cell_lung_carcinoma|Syndromic_intellectual_disability|Thanatophoric_dysplasia|Thanatophoric_dysplasia,_type_2|Thanatophoric_dysplasia_type_1|Transitional_cell_carcinoma_of_the_bladder|Type_2_diabetes_mellitus|Type_IV_short_rib_polydactyly_syndrome|Tyrosinase-positive_oculocutaneous_albinism|Unilateral_renal_agenesis|Upper_limb_undergrowth|Urinary_bladder_carcinoma|WFS1-Related_Spectrum_Disorders|WFS1-related_condition|WFS1-related_disorder|Wolf-Hirschhorn_like_syndrome|Wolfram-like_syndrome|Wolfram_syndrome|Wolfram_syndrome_1|not_specified,.,.,.,.,.,.,.,.,Emm-null_phenotype|Inborn_genetic_diseases|Intellectual_disability,_autosomal_recessive_53|PIGG-related_condition,.,.,Autosomal_recessive_retinitis_pigmentosa|Cone-rod_dystrophy|Congenital_Stationary_Night_Blindness,_Dominant|Congenital_stationary_night_blindness_autosomal_dominant_2|Leber_congenital_amaurosis|PDE6B-Related_Disorders|PDE6B-related_condition|PDE6B-related_disorder|Retinal_dystrophy|Retinitis_pigmentosa|Retinitis_pigmentosa_40|Rod-cone_dystrophy|Tyrosinase-positive_oculocutaneous_albinism,.,.,.,.,.,Developmental_and_epileptic_encephalopathy,_63,.,.,.,Abnormality_of_mucopolysaccharide_metabolism|Hurler_syndrome|IDUA-related_condition|Interstitial_pneumonitis|Mucopolysaccharidosis|Mucopolysaccharidosis,_MPS-I-H/S|Mucopolysaccharidosis,_MPS-I-S|Mucopolysaccharidosis_type_1,Abnormality_of_mucopolysaccharide_metabolism|Hurler_syndrome|IDUA-related_condition|Inborn_genetic_diseases|Interstitial_pneumonitis|Mucopolysaccharidosis|Mucopolysaccharidosis,_MPS-I-H/S|Mucopolysaccharidosis,_MPS-I-S|Mucopolysaccharidosis,_MPS-IV-A|Mucopolysaccharidosis_type_1|Mucopolysacchariduria|See_cases,.,.,.,.,.,.,Hypotonia,_ataxia,_developmental_delay,_and_tooth_enamel_defect_syndrome|Inborn_genetic_diseases,Hypotonia,_ataxia,_developmental_delay,_and_tooth_enamel_defect_syndrome|Inborn_genetic_diseases,.,.,.,.,.,.,.,.,Abnormality_of_the_nervous_system|Acanthosis_nigricans|Achondroplasia|Bell-shaped_thorax|Bowed_humerus|Camptodactyly-tall_stature-scoliosis-hearing_loss_syndrome|Carcinoma|Carcinoma_of_colon|Cervical_cancer|Colorectal_cancer|Connective_tissue_disorder|Coronal_craniosynostosis|Craniosynostosis_syndrome|Crouzon_syndrome|Crouzon_syndrome-acanthosis_nigricans_syndrome|Disproportionate_short-limb_short_stature|Epidermal_nevus|FGFR3-Related_Disorders|FGFR3-related_chondrodysplasia|FGFR3-related_condition|FGFR3-related_disorder|Facial_asymmetry|Femoral_bowing|Generalized_non-motor_(absence)_seizure|Germ_cell_tumor_of_testis|Growth_delay|Hamartoma|Hypochondroplasia|Inborn_genetic_diseases|Infantile_axial_hypotonia|Larsen_syndrome|Lethal_short-limbed_short_stature|Levy-Hollister_syndrome|Lower_limb_undergrowth|Lung_adenocarcinoma|Malignant_tumor_of_testis|Malignant_tumor_of_urinary_bladder|Muenke_syndrome|Multiple_myeloma|Narrow_chest|Neurodevelopmental_delay|Papillary_renal_cell_carcinoma,_sporadic|SEVERE_ACHONDRODYSPLASIA_WITH_DEVELOPMENTAL_DELAY_AND_ACANTHOSIS_NIGRICANS|Saethre-Chotzen_syndrome|Seborrheic_keratosis|See_cases|Seizure|Severe_achondroplasia-developmental_delay-acanthosis_nigricans_syndrome|Short_ribs|Short_stature|Skeletal_dysplasia|Skeletal_dysplasia_with_acanthosis_nigricans|Small_for_gestational_age|Spermatocytic_seminoma|Squamous_cell_carcinoma_of_the_head_and_neck|Squamous_cell_lung_carcinoma|Thanatophoric_dysplasia|Thanatophoric_dysplasia,_type_2|Thanatophoric_dysplasia_type_1|Transitional_cell_carcinoma_of_the_bladder|Unilateral_renal_agenesis|Upper_limb_undergrowth|Urinary_bladder_carcinoma|not_specified,.,4p_partial_monosomy_syndrome|Global_developmental_delay|Inborn_genetic_diseases|NSD2_related_disorders|Neurodevelopmental_delay|Rauch-Steindl_syndrome|Syndromic_intellectual_disability|Wolf-Hirschhorn_like_syndrome,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Fibrous_dysplasia_of_jaw,.,.,.,.,.,.,.,.,.,.,Abnormality_of_the_musculature|Congenital_myasthenic_syndrome|Congenital_myasthenic_syndrome_10|DOK7-related_condition|Fetal_akinesia_deformation_sequence_1|Fetal_akinesia_deformation_sequence_3|Inborn_genetic_diseases|Rett_syndrome|See_cases,Myopia_23,_autosomal_recessive,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Hypoplastic_enamel-onycholysis-hypohidrosis_syndrome|MSX1-related_condition,.,.,.,.,Curry-Hall_syndrome|EVC2-related_condition|Ellis-van_Creveld_syndrome|Inborn_genetic_diseases|Jeune_thoracic_dystrophy|Short-rib_thoracic_dysplasia_6_with_or_without_polydactyly|Type_IV_short_rib_polydactyly_syndrome|not_specified,Curry-Hall_syndrome|EVC-related_condition|Ellis-van_Creveld_syndrome|Short-rib_thoracic_dysplasia_6_with_or_without_polydactyly,.,.,.,Smith-Magenis_Syndrome-like,.,Abnormality_of_the_cervical_spine|Abnormality_of_the_diaphragm|Abnormality_of_the_vertebral_column|Arachnodactyly|Autosomal_dominant_nonsyndromic_hearing_loss_6|Cataract_41|Cerebellar_vermis_hypoplasia|Cleft_palate|Congenital_laryngomalacia|Dandy-Walker_syndrome|Diabetes_mellitus|Diaphragmatic_eventration|Duane_retraction_syndrome|Feeding_difficulties|Global_developmental_delay|Hydronephrosis|Hydroureter|Inborn_genetic_diseases|Microglossia|Micrognathia|Night_blindness|Nonsyndromic_genetic_hearing_loss|Rare_genetic_deafness|See_cases|Sensorineural_hearing_loss_disorder|Small_hand|Type_2_diabetes_mellitus|WFS1-Related_Spectrum_Disorders|WFS1-related_condition|WFS1-related_disorder|Wolfram-like_syndrome|Wolfram_syndrome|Wolfram_syndrome_1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Isolated_microphthalmia_6,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;B_gain_source=.,dbVar|esv2763806,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,.,.,.,dbVar,dbVar,dbVar,dbVar,.,.,dbVar,.,.,.,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,.,.,.,.,dbVar,.,.,dbVar,.,.,.,.,.,.,.,.,.,.,.,.,.,.,dbVar,dbVar,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,dbVar,.,dbVar,dbVar,dbVar,dbVar,.,.,.,.,.,.,dbVar,dbVar,dbVar,dbVar,dbVar,.,dbVar,.,.,.,.,.,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,dbVar,.,.,.,.,.,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|DDD:12919|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|DDD:12919|DDD:12922|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|DDD:12919|DDD:12922|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|DDD:12919|DDD:12922|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174,DDD:12912|IMH|dbVar|gnomAD-SV_v2.1_DUP_4_11165|gnomAD-SV_v2.1_DUP_4_11169|gnomAD-SV_v2.1_DUP_4_11174;B_gain_coord=.,4:12282-121562|chr4:67914-130131,chr4:71970-524981|chr4:103000-188000,chr4:71970-524981|chr4:191270-254556,chr4:71970-524981,chr4:71970-524981|chr4:297194-398976|chr4:308401-399950,chr4:71970-524981|chr4:297194-398976|chr4:308401-399950|chr4:335381-378075,chr4:71970-524981,chr4:71970-524981,.,.,.,chr4:613000-729000,chr4:613000-729000|chr4:653000-672000,chr4:613000-729000,chr4:613000-729000,.,.,chr4:754376-832076,.,.,.,chr4:968425-1004663,chr4:968425-1004663,chr4:997718-1171806,chr4:997718-1171806,chr4:997718-1171806,chr4:997718-1171806,.,.,.,.,chr4:1212000-1328000,.,.,chr4:1395250-1402000,.,.,.,.,.,.,.,.,.,.,.,.,.,.,chr4:2235501-2406763|chr4:2237000-2302000,chr4:2235501-2406763|chr4:2237000-2302000,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,chr4:3599563-3715752|chr4:3601813-3701023|chr4:3621281-3742478,.,chr4:3895471-4250523|chr4:3898327-4166047|chr4:3906095-3993252|chr4:3938384-4025767|chr4:3939497-4298000,chr4:3895471-4250523|chr4:3939497-4298000,chr4:3895471-4250523|chr4:3939497-4298000,chr4:3939497-4298000,.,.,.,.,.,.,chr4:4763025-4828041,chr4:4785101-5227993|chr4:4833228-4894750,chr4:4785101-5227993|chr4:4833228-4894750,chr4:4785101-5227993,chr4:4785101-5227993,.,chr4:5486512-5554541,.,.,.,.,.,chr4:5960239-6587328,chr4:5960239-6587328,chr4:5960239-6587328,chr4:5960239-6587328,chr4:6438729-6651391,chr4:6438729-6651391,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,chr4:8311538-8373454,.,.,.,.,.,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|4:9176165-9236152|chr4:9181620-9274560,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|4:9176165-9236152|chr4:9181620-9274560|4:9212771-9237062,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|4:9176165-9236152|chr4:9181620-9274560|4:9212771-9237062,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|4:9176165-9236152|chr4:9181620-9274560|4:9212771-9237062,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|chr4:9181620-9274560,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|chr4:9181620-9274560,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|chr4:9181620-9274560,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|chr4:9181620-9274560,chr4:8942468-9274560|chr4:8951531-9485561|4:8951722-9487283|chr4:8952199-9486394|4:8952199-9486394|chr4:8958204-9492295|4:8958204-9492295|chr4:9009830-9541289|4:9009830-9541289|4:9043826-9467101|chr4:9140852-9677036|c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trong|Supportive,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;GenCC_pmid=.,.,.,.,.,23160277|26394607[PMID]_23160277[PMID],.,.,.,26996948|28581210|28771251,.,.,12641462|17044014|19578023|20301590[PMID]|22334370|22968130|24265693|24760071|24938718|25472526|26667666|28559085|30646425|8075643|8075643[PMID]|8394174|8595886,.,.,.,.,.,11163241|26539891|28422131|28422131[PMID],.,.,.,24250268|27210743,10466419|10735634|11735025|21394825|21480867|22976768|23917744|4221470|6821579|7550232|7951228|8328452|8664897|8680403[PMID]|9391892,.,25342176|31125047,.,.,.,.,.,12101226|26480814|27094857|28408745|28955726|30356033|31041561|32075774|9524128,.,.,22466610|22466610[PMID]_22466611[PMID]_22466612[PMID],.,.,.,.,.,10053006|10053006[PMID]_18076102[PMID]|10215410|10671061|10696568|10914960[PMID]|11055896|11406607|11467490|15909185|16411219|16441300|16501574|16501574[PMID]|16912704|17033969|17033969[PMID]_24864036[PMID]|18076102|18818193|194190|19449430|20301540[PMID]|20301588[PMID]_20301628[PMID]_21438135[PMID]|20301628[PMID]|20301650[PMID]_23149434[PMID]|21536014|23149434[PMID]|24864036|27139183|28249712|28483234|7493034|7647778|7670477|7758520|7773297|7847369|7913883|8078586|8589686|8630492|8640234|8845844|8880573|8880574|9042914|9279753|9300656|9450868|9452043|9580776,26960370|27287194|30378700|30773800|36055214,19483677|26633542|28600779|29760529|29892088|30244530|30345613|31171569|9618163,.,.,.,.,11310630|15328569|16802720|19807691|26511242,.,.,.,.,.,.,.,.,.,11381256|12900899|17147794|17321449|17368082|19038533|22153076|22153077|22640988|24382142|24916406|26064398|NULL,.,.,.,.,.,.,11264541|17181545[PMID]|20301482[PMID]_21566141[PMID]|248284|26740508|27329733|7550343|7618107|7774020|8401587|8458085,.,.,.,16794080|16917026|17439981|18626973|19261599|19261599[PMID]|20147321|20301347[PMID]|29395672|31453852|32360404,23830514|25525168,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,1054139|10742093|10815578|11369996|11369996[PMID]|12097313|12807959|15264286|15354328|16498076|26502894|4521949|8466837|8469557|8696335|9742121|NULL,.,.,.,.,16404586|17024374|17547743|19810119|19876929|225500|22616035|23220543|23220543[PMID]_22791528[PMID]_12571802[PMID]_12468274[PMID]|23220543[PMID]_22791528[PMID]_16404586[PMID],10700184|10700184[PMID]|12468274|12571802|14217223|17024374|21815252|23220543|23220543[PMID]_22791528[PMID]_19744229[PMID]_18947413[PMID]|26748586|29321360|30076350|7218275|7628126,.,.,.,.,.,10521293|11161832|11295831|11317648|11709537|11709538|12073007|12107816|12707373|12754709|12955714|14724730|15070927|15151504|15277431|15503287|15605410|16151413|16442662|16459465|16648378|16806192|16806192[PMID]_12913071[PMID]|17492394|17568405|18544103|18660851|18806274|19042979|19160074|20069065|20069065[PMID]_20301750[PMID]|20301607[PMID]_24148127[PMID]|20875904|21067485|21446023|21538838|21564155|21602428|21623591|21726277|21823543|21968327|22226368|222300|22238590|22311385|22781099|23103830|23373429|23531866|23531866[PMID]|243330|248846|251462|25250959|25390390|27395765|28802351|29529044|31313226|31555371|34014271|35018440|606201|9771706,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,18423520|18423520[PMID]_25574057[PMID]|19379485|25574057|29140751,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;NCBI_gene_ID=.,152687,255403,642280,654254,7700,693156,79963,170960,54872,112441426,.,5158,521,4636,84179,10336,100129917,10815,2580,84286,1609,10861,3425,53834,285498,.,100379220,10417,.,285463,1487,92070,10296,57654,54729,152877,7884,92305,10460,2261,3954,7468,677770,7469,100126332,401115,339983,353497,79441,10608,100616358,57732,402160,6047,8603,79155,6452,118,10227,317648,8602,2868,100750326,3064,345222,6002,3083,285489,4043,285492,100133461,152,348926,133060,85013,55646,166793,27065,53407,104472519,100507266,109623454,.,103695434,4487,.,54360,55351,10141,132884,2121,1400,100616201,389197,152789,285484,7466,5522,23324,93621,105374366,.,339988,6286,114932,55330,9778,57533,.,257236,93624,80273,730971,57537,100616471,768239,100422826,84740,60312,.,84448,407052,54436,726,105374374,8310,152992,27201,8532,3166,100287045,100287144,100287178,100287205,100287238,100288520,100287327,100287364,100287404,100287441,100287478,100287513,728369,728373,728379,728386,728393,728400,728405,391627,728419,391622;OMIM_ID=194648|616918|180072|605032|610130|252800|612041|602618|614632|134934|604407|602952|610647|602104|102680|613004|610285|104225|104250|142983|607261|604831|606201|142992,.,.,.,.,194648,.,.,.,616918,.,.,180072,.,.,.,.,.,605032,.,.,.,610130,252800,.,612041,.,.,.,.,.,602618,.,.,614632,.,.,.,.,.,134934,604407,602952,.,.,.,.,610647,.,.,.,.,.,.,.,.,.,602104,102680,.,.,.,.,.,613004,.,.,.,610285,104225,.,.,104250,.,.,.,.,.,.,.,.,.,.,.,.,142983,.,.,.,.,607261,604831,.,.,.,.,.,606201,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,142992,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;OMIM_phenotype=.,.,.,.,.,?Polydactyly,_postaxial,_type_A6,_615226_(3)_AR,.,.,.,Neurodevelopmental_disorder_with_or_without_hypotonia,_seizures,_and_cerebellar_atrophy,_616917_(3)_AR|[Blood_group,_EMM_system],_619812_(3)_AR,.,.,Night_blindness,_congenital_stationary,_AD_2,_163500_(3)_AD|Retinitis_pigmentosa-40,_613801_(3)_AR,.,.,.,.,.,Developmental_and_epileptic_encephalopathy_63,_617976_(3)_AR,.,.,.,?Hypersulfaturia,_620372_(3)_AR|?Nephrolithiasis,_calcium_oxalate,_1,_167030_(3)_AR,Mucopolysaccharidosis_Ih,_607014_(3)_AR|Mucopolysaccharidosis_Ih/s,_607015_(3)_AR|Mucopolysaccharidosis_Is,_607016_(3)_AR,.,?Spermatogenic_failure_62,_619673_(3)_AR|Recombination_rate_QTL_1,_612042_(3),.,.,.,.,.,Hypotonia,_ataxia,_developmental_delay,_and_tooth_enamel_defect_syndrome,_617915_(3)_AD,.,.,UV-sensitive_syndrome_3,_614640_(3)_AR,.,.,.,.,.,Achondroplasia,_100800_(3)_AD|Bladder_cancer,_somatic,_109800_(3)|CATSHL_syndrome,_610474_(3)_AD,AR|Cervical_cancer,_somatic,_603956_(3)|Colorectal_cancer,_somatic,_114500_(3)|Crouzon_syndrome_with_acanthosis_nigricans,_612247_(3)_AD|Hypochondroplasia,_146000_(3)_AD|LADD_syndrome_2,_620192_(3)_AD|Muenke_syndrome,_602849_(3)_AD|Nevus,_epidermal,_somatic,_162900_(3)|SADDAN,_616482_(3)_AD|Spermatocytic_seminoma,_somatic,_273300_(3)|Thanatophoric_dysplasia,_type_I,_187600_(3)_AD|Thanatophoric_dysplasia,_type_II,_187601_(3)_AD,Neurodegeneration,_childhood-onset,_with_multisystem_involvement_due_to_mitochondrial_dysfunction,_620089_(3)_AR,Rauch-Steindl_syndrome,_619695_(3)_AD,.,.,.,.,?N-acetylaspartate_deficiency,_614063_(3)_AR,.,.,.,.,.,.,.,.,.,Cherubism,_118400_(3)_AD,(Hypertension,_essential,_salt-sensitive),_145500_(3)_Multifactorial,.,.,.,.,.,Huntington_disease,_143100_(3)_AD|Lopes-Maciel-Rodan_syndrome,_617435_(3)_AR,.,.,.,Fetal_akinesia_deformation_sequence_3,_618389_(3)_AR|Myasthenic_syndrome,_congenital,_10,_254300_(3)_AR,Myopia_23,_AR,_615431_(3)_AR,.,.,(Congestive_heart_failure_and_beta-blocker_response,_modifier_of)_(3),.,.,.,.,.,.,.,.,.,.,.,.,Ectodermal_dysplasia_3,_Witkop_type,_189500_(3)_AD|Orofacial_cleft_5,_608874_(3)_AD|Tooth_agenesis,_selective,_1,_with_or_without_orofacial_cleft,_106600_(3)_AD,.,.,.,.,Ellis-van_Creveld_syndrome,_225500_(3)_AR|Weyers_acrofacial_dysostosis,_193530_(3)_AD,?Weyers_acrofacial_dysostosis,_193530_(3)_AD|Ellis-van_Creveld_syndrome,_225500_(3)_AR,.,.,.,.,.,?Cataract_41,_116400_(3)_AD|Deafness,_AD_6/14/38,_600965_(3)_AD|Wolfram_syndrome_1,_222300_(3)_AR|Wolfram-like_syndrome,_AD,_614296_(3)_AD|(Diabetes_mellitus,_noninsulin-dependent,_association_with),_125853_(3)_AD,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Oculoauricular_syndrome,_612109_(3)_AR,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;OMIM_inheritance=.,.,.,.,.,AR,.,.,.,AR,.,.,AD|AR,.,.,.,.,.,AR,.,.,.,AR,AR,.,AR,.,.,.,.,.,AD,.,.,AR,.,.,.,.,.,AD|AD,AR,AR,AD,.,.,.,.,AR,.,.,.,.,.,.,.,.,.,AD,Multifactorial,.,.,.,.,.,AD|AR,.,.,.,AR,AR,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,AD,.,.,.,.,AD|AR,AD|AR,.,.,.,.,.,AD|AR,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,AR,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;OMIM_morbid=yes,.,.,.,.,.,.,.,.,yes,.,.,yes,.,.,.,.,.,yes,.,.,.,.,yes,.,yes,.,.,.,.,.,yes,.,.,yes,.,.,.,.,.,yes,yes,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,.,.,yes,.,.,.,yes,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,yes,yes,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;OMIM_morbid_candidate=yes,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,.,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,.,yes,.,.,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;LOEUF_bin=0,6,.,.,7,7,.,.,9,5,.,.,6,.,9,.,1,.,2,1,6,3,8,6,3,4,.,.,9,.,.,1,.,2,7,3,6,4,8,3,3,3,.,.,2,.,7,2,7,6,2,.,2,.,2,0,3,6,1,7,.,2,6,.,0,2,3,4,5,6,8,.,3,.,9,8,5,4,7,5,.,.,.,.,.,5,.,9,5,.,5,5,1,.,7,0,.,9,1,5,6,.,.,.,9,8,9,0,2,.,8,2,4,.,2,.,.,.,.,3,.,2,.,7,6,.,5,7,9,9,3,9,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;GnomAD_pLI=1,0.3055,.,.,0.098159,0.10393,.,.,0.094789,5.4258e-15,.,.,2.6155e-27,.,8.4023e-14,.,0.95326,.,0.82499,0.0051818,3.0549e-09,1.7603e-09,1.0564e-11,3.7599e-13,0.011908,0.0015645,.,.,2.6609e-15,.,.,0.98442,.,0.22741,5.4127e-25,0.71465,0.0035705,0.068148,2.3074e-11,2.7082e-07,1.6432e-05,1.2141e-06,.,.,0.13469,.,0.51423,0.86458,9.488e-41,1.2992e-09,0.77635,.,0.07234,.,0.79973,0.99993,0.0015926,1.156e-11,0.9883,7.3331e-11,.,2.1363e-06,1.6286e-15,.,1,0.80456,4.0922e-09,1.9843e-08,0.00010263,4.4951e-07,0.45772,.,0.50159,.,4.8437e-24,0.00019994,3.758e-07,1.3752e-08,0.0088286,2.4881e-07,.,.,.,.,.,0.16517,.,1.0733e-05,4.9116e-08,.,1.0207e-34,3.4620000000000003e-25,0.99173,.,7.736100000000001e-19,0.99986,.,1.6230999999999999e-38,0.89954,6.557e-23,0.31404,.,.,.,0.033257,0.0025481,0.10151,0.99999,0.039267,.,1.9555e-17,0.72366,0.13916,.,0.0031696,.,.,.,.,2.3828e-07,.,0.0045858,.,6.0939e-35,6.5843e-08,.,7.6016e-16,2.0315e-22,2.6834e-06,8.8063e-36,0.72623,0.28656,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;ExAC_pLI=1,1.7753e-05,.,.,1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GT 1/. 4 69392546 . T . PASS AnnotSV_ID=4_69392546_69462438_DEL_1;SV_start=69392546;Biologist_ranking=Benign;Annotation_mode=full,split;CytoBand=q13.2;Gene_name=UGT2B17;Closest_left=TMPRSS11E;Closest_right=UGT2B15;Gene_count=1;Tx=.,NM_001077;Tx_version=.,4;Tx_start=.,69402890;Tx_end=.,69442040;Overlapped_tx_length=.,39150;Overlapped_CDS_length=.,1593;Overlapped_CDS_percent=.,100;Frameshift=.,no;Exon_count=.,7;Location=.,txStart-txEnd;Location2=.,5'UTR-3'UTR;Intersect_start=.,69402890;Intersect_end=.,69442040;po_P_gain_source=dbVar:nssv15165478|dbVar:nssv15148693|dbVar:nssv15165480|dbVar:nssv15164282|dbVar:nssv15149870|nssv15151360|dbVar:nssv15145710|dbVar:nssv17956560|dbVar:nssv15153593|dbVar:nssv15774461;po_P_gain_coord=4:11526-191028879|4:12441-190904441|4:49451-190915650|4:49451-190963766|4:68347-190957473|4:52697789-98426769|4:52866945-143582507|4:64705502-73469716|4:68242785-82991431;po_P_gain_percent=0.04|0.04|0.04|0.04|0.04|0.15|0.08|0.80|0.47;po_P_loss_source=dbVar:nssv17173265|dbVar:nssv15165214|dbVar:nssv15125766|dbVar:nssv17969950|dbVar:nssv15141158|dbVar:nssv15132956|dbVar:nssv15132546|dbVar:nssv15137205|dbVar:nssv18830797|dbVar:nssv16207960;po_P_loss_coord=4:52757981-76930872|4:58332295-71587615|4:59167246-101910659|4:61867556-74711517|4:66017576-76772947|4:66320281-73179410|4:67708127-71697274|4:68665384-75106637|4:68698774-83637218|4:68950364-79738598;po_P_loss_percent=0.29|0.53|0.16|0.54|0.65|1.02|1.75|1.09|0.47|0.65;B_gain_source=DDD:13999|dbVar|dgv1490e212|dgv5262n100|dgv5264n100;B_gain_coord=4:69360477-69485827|4:69364694-69524016|chr4:69365480-69553855|4:69371992-69489323|4:69371992-69540013|chr4:69373950-69490950;B_gain_AFmax=0.4178;B_loss_source=1000g|DDD:13999|DDD:14001|DDD:14006|IMH|dbVar|dgv5262n100|dgv951e199|esv2421501|esv3600874|esv3893940|gnomAD-SV_v2.1_DEL_4_46338|nsv514223;B_loss_coord=4:69364694-69524016|4:69367085-69542363|4:69371992-69489323|4:69372046-69491392|4:69373660-69491275|chr4:69373811-69491113|4:69373811-69491113|4:69374942-69503681|chr4:69375591-69491543|4:69375592-69491543|4:69375592-69491543|4:69380302-69491200|4:69382081-69512905|4:69386966-69483317;B_loss_AFmax=0.8518;B_inv_source=IMH;B_inv_coord=4:21758876-84442542|4:32219469-79170284;B_inv_AFmax=0.1946;po_B_gain_someG_source=4:69364694-69524016_DDD:13999|4:69366026-69430178_DDD:14000|4:69371992-69540013_dgv5264n100|4:69435890-69485966_dgv1493e212|;po_B_gain_someG_coord=4:69360477-69485827_dgv1490e212|chr4:69365480-69553855_dbVar|4:69371992-69489323_dgv5262n100|chr4:69373950-69490950_dbVar|4:69435890-69551731_dgv1495e212;po_B_loss_someG_source=4:69364694-69524016_DDD:13999|4:69367085-69542363_DDD:14001|4:69372046-69491392_dgv951e199|chr4:69373747-69423167_dbVar|4:69373748-69423167_esv3600873|4:69373811-69491113_gnomAD-SV_v2.1_DEL_4_46338|4:69374942-69503681_esv2421501|4:69375592-69491543_1000g|4:69380302-69491200_DDD:14006|4:69386966-69483317_nsv514223|4:69426440-69454553_1000g|4:69435890-69485966_dgv1494e212|chr4:69441908-69442050_dbVar|;po_B_loss_someG_coord=4:69360489-69396466_DDD:13998|4:69366026-69430178_DDD:14000|4:69371992-69489323_dgv5262n100|4:69373660-69491275_IMH|4:69373748-69423167_1000g|chr4:69373811-69491113_dbVar|4:69374942-69396466_DDD:14004|chr4:69375591-69491543_dbVar|4:69375592-69491543_esv3600874|4:69382081-69512905_esv3893940|chr4:69426439-69454553_dbVar|4:69426440-69454553_esv3600875|4:69435890-69558258_dgv1496e212|chr4:69446429-69446529_dbVar;Cosmic_ID=1066120|2666915|1397960|1223404|1447809|2109610|2228872|2484300|2954216|2279170|2285811,1397960;Cosmic_mut_typ=loss|gain,gain;GC_content_left=0.4;GC_content_right=0.365;Repeat_coord_left=4:69392108-69392544;Repeat_type_left=Tigger2a;Repeat_coord_right=4:69462528-69462751;Repeat_type_right=THE1B;SegDup_left=4:69370649-69435791;DDD_HI_percent=87.45;ExAC_synZ=0.741987855668132;ExAC_misZ=1.6951286981971;NCBI_gene_ID=.,7367;OMIM_ID=601903;OMIM_phenotype=.,(Bone_mineral_density_QTL_12,_osteoporosis),_612560_(3);OMIM_morbid_candidate=yes;LOEUF_bin=5;GnomAD_pLI=9.6905e-08;ExAC_pLI=0.010256;AnnotSV_ranking_score=-1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2F/4O_(cf_B_loss_source,_-1.00)|2B_(cf_po_P_loss_source,_HI,_OMIM_morbid,_+0.00)|3A_(1_gene,_+0.00)|5F_(+0.00);ACMG_class=1,full=1;END=69462438;SVLEN=-69892 GT 1/. 5 723195 . G . PASS AnnotSV_ID=5_723195_777000_DUP_1;SV_start=723195;Biologist_ranking=Benign;Annotation_mode=full,split;CytoBand=p15.33;Gene_name=ZDHHC11B;Closest_left=TPPP;Closest_right=ZDHHC11;Gene_count=1;Tx=.,NM_001351303;Tx_version=.,2;Tx_start=.,710469;Tx_end=.,784844;Overlapped_tx_length=.,53806;Overlapped_CDS_length=.,1058;Overlapped_CDS_percent=.,94;Frameshift=.,yes;Exon_count=.,14;Location=.,intron1-intron12;Location2=.,5'UTR-CDS;Dist_nearest_SS=.,6214;Nearest_SS_type=.,3';Intersect_start=.,723194;Intersect_end=.,777000;RE_gene=NDUFS6_(morbid/RE=ABC_enhancer)|SDHA_(morbid/RE=EA_enhancer)|SLC9A3_(morbid/RE=GH_enhancer)|TRIP13_(morbid/RE=ABC_enhancer+EA_enhancer);po_P_gain_source=dbVar:nssv15164761|dbVar:nssv15125831|dbVar:nssv15146713|dbVar:nssv15139036|dbVar:nssv15136993|dbVar:nssv15145871|dbVar:nssv15147378|dbVar:nssv15147960|dbVar:nssv15146962|dbVar:nssv15147414|dbVar:nssv15164765|dbVar:nssv15164764|dbVar:nssv15149091|dbVar:nssv15147291|dbVar:nssv15146993|dbVar:nssv15146992|dbVar:nssv15150844|dbVar:nssv17976838|dbVar:nssv15153658|dbVar:nssv15151111|nssv15151221;po_P_gain_coord=5:13649-180905029|5:22150-10308848|5:22150-15851485|5:22150-1659250|5:22150-2324057|5:22150-23607162|5:22150-28075213|5:22150-33418294|5:22150-34041255|5:22150-73708550|5:25329-180693344|5:25329-18698028|5:25329-19661628|5:50094-46115086|5:54955-35680947|5:54955-45649963|5:113577-20240392|5:113577-29310520|5:113577-35739404|5:113578-180719789;po_P_gain_percent=0.03|0.52|0.34|3.29|2.34|0.23|0.19|0.16|0.16|0.07|0.03|0.29|0.27|0.12|0.15|0.12|0.27|0.18|0.15|0.03;po_P_loss_phen=5p15_terminal_(Cri_du_chat_syndrome)_region;po_P_loss_source=dbVar:nssv18330851|dbVar:nssv18841914|dbVar:nssv17649947|dbVar:nssv15147173|dbVar:nssv15145875|dbVar:nssv15147440|dbVar:nssv15146459|dbVar:nssv15146622|dbVar:nssv15147702|dbVar:nssv15136268|dbVar:nssv15146696|dbVar:nssv15145969|dbVar:nssv15151220|dbVar:nssv15132269|dbVar:nssv15148862|dbVar:nssv15148231|dbVar:nssv15147402|dbVar:nssv15146458|dbVar:nssv15149597|dbVar:nssv15147956|dbVar:nssv15148968|dbVar:nssv15148844|dbVar:nssv15146717|dbVar:nssv15148985|dbVar:nssv15148016|dbVar:nssv15148112|dbVar:nssv15145972|dbVar:nssv16866488|dbVar:nssv15140376|dbVar:nssv15148058|dbVar:nssv15148554|dbVar:nssv15132604|dbVar:nssv15134412|dbVar:nssv15147416|dbVar:nssv15140515|dbVar:nssv15135741|dbVar:nssv15141721|dbVar:nssv15138139|dbVar:nssv15139127|dbVar:nssv15139876|dbVar:nssv15134733|dbVar:nssv15142657|dbVar:nssv15141520|dbVar:nssv15147171|dbVar:nssv15150118|dbVar:nssv15146522|dbVar:nssv15164763|dbVar:nssv15150859|dbVar:nssv15166282|dbVar:nssv15132966|dbVar:nssv15132967|HI3:ISCA-37390|dbVar:nssv15146165|nssv15146815|dbVar:nssv15148064|dbVar:nssv15132680|dbVar:nssv15223218|dbVar:nssv15134417|dbVar:nssv16216549|dbVar:nssv15149121|dbVar:nssv15150161|dbVar:nssv15137858|dbVar:nssv15150229|dbVar:nssv15149886|dbVar:nssv16208009|dbVar:nssv17976839|dbVar:nssv15148942|dbVar:nssv16208008|dbVar:nssv15149911|dbVar:nssv15151402|dbVar:nssv15153655|dbVar:nssv15152885|dbVar:nssv15151403|dbVar:nssv18326313|dbVar:nssv15149508|dbVar:nssv16208007|dbVar:nssv15151241|dbVar:nssv15150601|dbVar:nssv15150625|dbVar:nssv17977082|dbVar:nssv15145995|dbVar:nssv15151861|dbVar:nssv16255066|dbVar:nssv16208006|dbVar:nssv16208011|dbVar:nssv15142295|dbVar:nssv16208010|dbVar:nssv15153656|dbVar:nssv15152886|dbVar:nssv15137538|dbVar:nssv15153657|dbVar:nssv17976724|dbVar:nssv15146000|dbVar:nssv17956677|dbVar:nssv18330187|dbVar:nssv18329119|dbVar:nssv18329189|dbVar:nssv15606071|dbVar:nssv15606072|dbVar:nssv16213555|dbVar:nssv16213990|dbVar:nssv18787102|dbVar:nssv18790308;po_P_loss_coord=5:2-32091038|5:10002-14320109|5:13201-4012072|5:22150-10044199|5:22150-11429370|5:22150-11530503|5:22150-12004203|5:22150-12820111|5:22150-13362684|5:22150-1429714|5:22150-16584684|5:22150-16930125|5:22150-17788806|5:22150-1826370|5:22150-21217229|5:22150-21726469|5:22150-22775404|5:22150-23132155|5:22150-24835567|5:22150-25699714|5:22150-26594000|5:22150-27188057|5:22150-27485726|5:22150-27611270|5:22150-27788723|5:22150-28429348|5:22150-28589299|5:22150-29048823|5:22150-2965987|5:22150-32248116|5:22150-34041196|5:22150-3404358|5:22150-3557056|5:22150-35831640|5:22150-4163847|5:22150-4260264|5:22150-4641409|5:22150-4833739|5:22150-5060009|5:22150-5102699|5:22150-6060215|5:22150-6112711|5:22150-6500967|5:22150-7213388|5:22150-9958240|5:22420-19281001|5:25329-18662625|5:25329-30672798|5:25329-31343671|5:37693-2747022|5:37693-2913319|5:37694-11347262|5:50094-15678560|5:50094-30112642|5:50094-4014761|5:52187-4163906|5:54955-5603514|5:71905-22078969|5:79147-15509107|5:79147-22152284|5:95244-5834664|5:113577-10163809|5:113577-10729838|5:113577-11767720|5:113577-12601027|5:113577-14684471|5:113577-14738180|5:113577-15291661|5:113577-15822225|5:113577-1708530|5:113577-1816055|5:113577-19167699|5:113577-2027194|5:113577-23047959|5:113577-23364376|5:113577-25091472|5:113577-26234903|5:113577-26948599|5:113577-30712376|5:113577-33998394|5:113577-4175855|5:113577-4305172|5:113577-4325585|5:113577-5194484|5:113577-5380741|5:113577-5657333|5:113577-5884399|5:113577-6125331|5:113577-6244090|5:113577-7946262|5:113577-8007018|5:113577-8876045|5:113578-16952167|5:113578-17654787|5:113578-26164852|5:113578-31448527|5:140475-26906925|5:140475-9792158|5:218462-1295161|5:218465-1297488|5:218472-1895829|5:482644-1895829;po_P_loss_percent=0.17|0.38|1.35|0.54|0.47|0.47|0.45|0.42|0.40|3.82|0.32|0.32|0.30|2.98|0.25|0.25|0.24|0.23|0.22|0.21|0.20|0.20|0.20|0.20|0.19|0.19|0.19|0.19|1.83|0.17|0.16|1.59|1.52|0.15|1.30|1.27|1.16|1.12|1.07|1.06|0.89|0.88|0.83|0.75|0.54|0.28|0.29|0.18|0.17|1.99|1.87|0.48|0.34|0.18|1.36|1.31|0.97|0.24|0.35|0.24|0.94|0.54|0.51|0.46|0.43|0.37|0.37|0.35|0.34|3.37|3.16|0.28|2.81|0.23|0.23|0.22|0.21|0.20|0.18|0.16|1.32|1.28|1.28|1.06|1.02|0.97|0.93|0.90|0.88|0.69|0.68|0.61|0.32|0.31|0.21|0.17|0.20|0.56|5.00|4.99|3.21|3.81;B_gain_source=DDD:16279|DDD:16284|dbVar|dgv131e203;B_gain_coord=chr5:432151-919355|5:653582-875018|chr5:685856-850649|5:686604-840273|5:708603-865477;B_gain_AFmax=0.1231;B_loss_source=DDD:16279|DDD:16284|dgv1000e199|dgv131e203;B_loss_coord=5:653582-875018|5:682475-788359|5:686604-840273|5:708603-865477;B_loss_AFmax=0.0497;B_inv_source=IMH;B_inv_coord=5:238915-1591166|5:244073-1583559|5:244336-1583852|5:261961-1570436;B_inv_AFmax=0.2771;po_B_gain_someG_source=5:653582-875018_dgv131e203|5:686604-840273_DDD:16279|chr5:714350-736500_dbVar|5:714989-733938_1000g|5:714989-733938_1000g|5:717638-748444_DDD:16285|5:754104-754760_IMH|5:757677-778933_1000g|5:757677-778933_1000g|5:763398-838450_DDD:16291;po_B_gain_someG_coord=chr5:432151-919355_dbVar|chr5:685856-850649_dbVar|5:708603-865477_DDD:16284|chr5:714988-733938_dbVar|5:714989-733938_1000g|5:714989-733938_dgv1061e214|chr5:732207-843089_dbVar|chr5:757676-778933_dbVar|5:757677-778933_1000g|5:757677-778933_dgv1062e214;po_B_loss_someG_source=5:682475-788359_dgv1000e199|5:708603-865477_DDD:16284|5:714989-733938_1000g|chr5:724284-724491_dbVar|5:747151-776399_DDD:16288|chr5:757676-778933_dbVar|5:757677-778933_esv3603772|chr5:764454-764539_dbVar|;po_B_loss_someG_coord=5:653582-875018_dgv131e203|5:686604-840273_DDD:16279|chr5:714988-733938_dbVar|5:714989-733938_esv3603766|chr5:725960-726319_dbVar|5:747846-753492_esv2673755|5:757677-778933_1000g|5:763398-838450_DDD:16291|chr5:774523-774617_dbVar;Cosmic_ID=744527|685925|659292|744529|709867|697438|663622|778865|682015|665581|664429|653823|703782|663623|664430|663624|664431|654500|697439|673937|774010|654501|673938|673939;Cosmic_mut_typ=loss|gain;GC_content_left=0.395;GC_content_right=0.58;Repeat_coord_left=5:721917-723166;Repeat_type_left=L1ME3F;SegDup_left=5:686123-731394;SegDup_right=5:770128-777143;DDD_HI_percent=98.37;ExAC_synZ=0.535222227518795;ExAC_misZ=-0.0274451648003615;NCBI_gene_ID=.,653082;LOEUF_bin=8;GnomAD_pLI=3.6787e-13;ExAC_pLI=0.043228;AnnotSV_ranking_score=0;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2B_(cf_po_P_gain_source,_TS,_OMIM_morbid,_+0.00)|2E_(cf_B_gain_source,_+0.00)|2L_(ZDHHC11B,_+0.00)|3A_(1_gene,_+0.00)|5F_(+0.00);ACMG_class=3,full=3;END=777000;SVLEN=53805 GT 1/. 5 88774329 . T . PASS AnnotSV_ID=5_88774329_91802402_DEL_1;SV_start=88774329;Biologist_annotation=TAD_MEF2C;Biologist_ranking=Pathogenic;Annotation_mode=full,split,split,split,split,split,split,split,split,split,split,split;CytoBand=q14.3;Gene_name=MIR3660|LINC01339|CETN3|LOC731157|MBLAC2|POLR3G|LYSMD3|ADGRV1|LUCAT1|ARRDC3|ARRDC3-AS1,MIR3660,LINC01339,CETN3,LOC731157,MBLAC2,POLR3G,LYSMD3,ADGRV1,LUCAT1,ARRDC3,ARRDC3-AS1;Closest_left=MEF2C-AS1;Closest_right=NR2F1-AS1;Gene_count=11;Tx=.,NR_037433,NR_120601,NM_001297765,NR_105024,NM_203406,NM_001370354,NM_198273,NM_032119,NR_103548,NM_020801,NR_027435;Tx_version=.,1,1,2,1,2,1,2,4,1,4,1;Tx_start=.,89312437,89454155,89688073,89705816,89754025,89769745,89811442,89854613,90598802,90664447,90676163;Tx_end=.,89312537,89585888,89705573,89706486,89770588,89810374,89825401,90460254,90610219,90679134,90716532;Overlapped_tx_length=.,100,131733,17500,670,16563,40629,13959,605641,11417,14687,40369;Overlapped_CDS_length=.,0,0,576,0,840,672,921,18921,0,1245,0;Overlapped_CDS_percent=.,0,0,100,0,100,100,100,100,0,100,0;Frameshift=.,no,no,no,no,no,no,no,no,no,no,no;Exon_count=.,1,6,6,2,2,8,3,90,5,8,3;Location=.,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd;Location2=.,UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR;Intersect_start=.,89312437,89454155,89688073,89705816,89754025,89769745,89811442,89854613,90598802,90664447,90676163;Intersect_end=.,89312537,89585888,89705573,89706486,89770588,89810374,89825401,90460254,90610219,90679134,90716532;RE_gene=AGO2_(morbid/RE=mTL_miRNA)|B4GALNT1_(morbid/RE=mTL_miRNA)|CEP57_(morbid/RE=mTL_miRNA)|EPHA2_(morbid/RE=mTL_miRNA)|GFPT1_(morbid/RE=mTL_miRNA)|GPSM2_(morbid/RE=mTL_miRNA)|KDM6A_(HI=3/morbid/RE=mTL_miRNA)|KMT2A_(HI=3/morbid/RE=mTL_miRNA)|MEF2C_(HI=3/morbid/RE=ABC_enhancer+GH_enhancer)|MSX2_(morbid/RE=mTL_miRNA)|NODAL_(morbid/RE=mTL_miRNA)|NR2F1_(HI=3/morbid/RE=ABC_enhancer)|PIGS_(morbid/RE=mTL_miRNA)|PLEKHM1_(morbid/RE=mTL_miRNA)|PPP1R15B_(morbid/RE=mTL_miRNA)|PRKACB_(morbid/RE=mTL_miRNA)|SELENOI_(morbid/RE=mTL_miRNA);P_gain_source=dbVar:nssv17172150|dbVar:nssv17172151|dbVar:nssv17974002|dbVar:nssv17974003|dbVar:nssv17976802,.,.,.,.,.,.,.,dbVar:nssv17172150|dbVar:nssv17172151|dbVar:nssv17974002|dbVar:nssv17974003|dbVar:nssv17976802,.,.,.;P_gain_coord=5:89920928-89923613|5:89938434-89948400|5:89938454-89949769|5:90136804-90261231|5:90144435-90159694,.,.,.,.,.,.,.,5:89920928-89923613|5:89938434-89948400|5:89938454-89949769|5:90136804-90261231|5:90144435-90159694,.,.,.;P_loss_phen=?Febrile_seizures,_familial,_4,_604352_(3)_AD|Usher_syndrome,_type_2C,_605472_(3)_Digenic_dominant,AR|Usher_syndrome,_type_2C,_GPR98|PDZD7_digenic,_605472_(3)_Digenic_dominant,AR|Usher_syndrome_type_2C,.,.,.,.,.,.,.,?Febrile_seizures,_familial,_4,_604352_(3)_AD|Usher_syndrome,_type_2C,_605472_(3)_Digenic_dominant,AR|Usher_syndrome,_type_2C,_GPR98|PDZD7_digenic,_605472_(3)_Digenic_dominant,AR,.,.,.;P_loss_source=CLN:2419348|dbVar:nssv15120153|dbVar:nssv15132320|dbVar:nssv15222969|dbVar:nssv15771046|dbVar:nssv15772847|nssv15776039|dbVar:nssv15774334|dbVar:nssv16211859|dbVar:nssv17171561|dbVar:nssv17955830|dbVar:nssv17955831|dbVar:nssv17970856|dbVar:nssv17971694|dbVar:nssv17972093|dbVar:nssv17972414|dbVar:nssv17974150|dbVar:nssv17975051|dbVar:nssv17976597|dbVar:nssv18787826|dbVar:nssv18787827|dbVar:nssv18787828|dbVar:nssv18787829|dbVar:nssv18787830|dbVar:nssv18787831|dbVar:nssv18787832|dbVar:nssv18787833|dbVar:nssv18787834|dbVar:nssv18792626|dbVar:nssv8639335|dbVar:nssv8639887|morbid:ADGRV1,.,.,.,.,.,.,.,dbVar:nssv15120153|dbVar:nssv15222969|dbVar:nssv15771046|dbVar:nssv15772847|nssv15776039|dbVar:nssv15774334|dbVar:nssv17171561|dbVar:nssv17955830|dbVar:nssv17955831|dbVar:nssv17970856|dbVar:nssv17971694|dbVar:nssv17972093|dbVar:nssv17972414|dbVar:nssv17974150|dbVar:nssv17975051|dbVar:nssv17976597|dbVar:nssv18787826|dbVar:nssv18787827|dbVar:nssv18787828|dbVar:nssv18787829|dbVar:nssv18787830|dbVar:nssv18787831|dbVar:nssv18787832|dbVar:nssv18787833|dbVar:nssv18787834|dbVar:nssv8639335|dbVar:nssv8639887|morbid:ADGRV1,.,.,.;P_loss_coord=5:89414155-89415062|5:89414156-89415061|5:89523964-90412409|5:89854614-90460254|5:89854714-90459717|5:89910547-90079868|5:89910633-90002231|5:89915000-89968362|5:89918395-90059306|5:89930912-90079894|5:89940238-89999954|5:89940504-89986878|5:89940571-89940765|5:89953703-89954115|5:89953723-89954095|5:89969852-89975466|5:89988605-90077246|5:89989688-90000325|5:89990520-90136394|5:89992735-90125023|5:89999463-89999632|5:90015866-90016040|5:90046349-90049666|5:90112103-90219415|5:90119223-90151738|5:90150020-90159573|5:90151539-90151738|5:90221275-90357290|5:90261233-90678909|5:90368245-90398177|5:90368250-90459732,.,.,.,.,.,.,.,5:89854614-90460254|5:89854714-90459717|5:89910547-90079868|5:89910633-90002231|5:89915000-89968362|5:89918395-90059306|5:89930912-90079894|5:89940238-89999954|5:89940504-89986878|5:89940571-89940765|5:89953703-89954115|5:89953723-89954095|5:89969852-89975466|5:89988605-90077246|5:89989688-90000325|5:89990520-90136394|5:89992735-90125023|5:89999463-89999632|5:90015866-90016040|5:90046349-90049666|5:90112103-90219415|5:90119223-90151738|5:90150020-90159573|5:90151539-90151738|5:90221275-90357290|5:90368245-90398177|5:90368250-90459732,.,.,.;P_ins_source=CLN:1393621|CLN:1447486|dbVar:nssv17971430|dbVar:nssv17974885,.,.,.,.,.,.,.,CLN:1393621|CLN:1447486|dbVar:nssv17971430|dbVar:nssv17974885,.,.,.;P_ins_coord=5:89949103-89949102|5:89949103-89949236|5:89990260-89990259|5:89990260-89990371,.,.,.,.,.,.,.,5:89949103-89949102|5:89949103-89949236|5:89990260-89990259|5:89990260-89990371,.,.,.;po_P_gain_source=dbVar:nssv15164761|dbVar:nssv15164765|dbVar:nssv15151111|nssv15151221|dbVar:nssv16206767|dbVar:nssv15120567|dbVar:nssv15132159|dbVar:nssv15142272|dbVar:nssv15151420|dbVar:nssv15135062|dbVar:nssv16207624|dbVar:nssv15776426;po_P_gain_coord=5:13649-180905029|5:25329-180693344|5:113578-180719789|5:72790062-97478870|5:73459012-110145153|5:86420656-92718726|5:86621338-89204392|5:87399002-92675748|5:87493550-92528869|5:87792845-109221844|5:89949119-129317455;po_P_gain_percent=1.67|1.68|1.68|12.26|8.25|48.08|16.65|57.39|60.14|14.13|4.71;po_P_loss_source=dbVar:nssv15151179|dbVar:nssv17970035|dbVar:nssv15138006|dbVar:nssv15127576|dbVar:nssv15120741|dbVar:nssv15122759|dbVar:nssv15143209|nssv17976344|dbVar:nssv15133640|dbVar:nssv15140345|dbVar:nssv15132311|dbVar:nssv18841850|dbVar:nssv15167313|dbVar:nssv15121450|dbVar:nssv15142367|dbVar:nssv15132971|dbVar:nssv15133836|dbVar:nssv15121948|dbVar:nssv15132637|dbVar:nssv15121951|dbVar:nssv15138054|dbVar:nssv15120743|dbVar:nssv15139660|dbVar:nssv8639414|dbVar:nssv15138098|dbVar:nssv15152898;po_P_loss_coord=5:17628742-176575720|5:82185952-90110454|5:83899399-110770779|5:85045626-89302638|5:86039541-91633081|5:86062777-91444662|5:86400001-154000000|5:86487716-89253266|5:86530416-88893604|5:86672701-100860147|5:87485354-93120303|5:87512315-95096562|5:87664107-91698938|5:87764486-90147447|5:88016215-88783092|5:88062498-89028098|5:88232588-93437723|5:88348148-88783092|5:88377170-104022949|5:89670424-127412115|5:90682370-97701584|5:90707526-130655256|5:91064111-93896378|5:91327087-93283043|5:91504102-104858348;po_P_loss_percent=1.91|16.86|11.27|12.41|51.11|49.62|4.48|17.32|5.05|21.34|53.74|39.93|72.48|57.62|1.14|26.28|58.17|2.01|19.35|5.65|15.96|2.74|26.07|24.30|2.23;P_snvindel_nb=319,.,.,.,.,.,.,.,319,.,.,.;P_snvindel_phen=ADGRV1-Related_Disorders|ADGRV1-related_condition|Autosomal_recessive_sensorineural_hearing_loss|Ear_malformation|Febrile_seizures,_familial,_4|Hearing_impairment|Hearing_loss,_autosomal_recessive|Rare_genetic_deafness|Retinal_dystrophy|Usher_syndrome|Usher_syndrome_type_2|Usher_syndrome_type_2C,.,.,.,.,.,.,.,ADGRV1-Related_Disorders|ADGRV1-related_condition|Autosomal_recessive_sensorineural_hearing_loss|Ear_malformation|Febrile_seizures,_familial,_4|Hearing_impairment|Hearing_loss,_autosomal_recessive|Rare_genetic_deafness|Retinal_dystrophy|Usher_syndrome|Usher_syndrome_type_2|Usher_syndrome_type_2C,.,.,.;B_inv_source=IMH;B_inv_coord=5:24758285-101693420|5:28691217-97582419|5:84488955-162334467;B_inv_AFmax=0.5483;po_B_gain_someG_source=chr5:88916144-88918908_dbVar|chr5:88933279-88933593_dbVar|chr5:89264627-89264683_dbVar|chr5:89359900-89373100_dbVar|chr5:89531601-89531940_dbVar|chr5:89628452-89648641_dbVar|chr5:89701625-89701760_dbVar|5:89860422-89860742_1000g|chr5:90113593-90118383_dbVar|chr5:90262584-90262832_dbVar|chr5:90289016-90289191_dbVar|chr5:90438449-90438606_dbVar|chr5:90610837-90613664_dbVar|chr5:90618087-90620700_dbVar|chr5:90866987-90867072_dbVar|chr5:90897077-90897172_dbVar|chr5:91237043-91237105_dbVar|chr5:91527295-91534644_dbVar|chr5:91620000-91629000_dbVar;po_B_gain_someG_coord=chr5:88908578-88917988_dbVar|chr5:88923056-88924318_dbVar|chr5:89235196-89235428_dbVar|5:89264627-89264683_gnomAD-SV_v2.1_DUP_5_15710|chr5:89450461-89452777_dbVar|chr5:89572897-89573040_dbVar|chr5:89657266-89676019_dbVar|5:89788663-89788952_IMH|chr5:90104120-90104339_dbVar|chr5:90250672-90250748_dbVar|chr5:90273278-90273491_dbVar|chr5:90383359-90394423_dbVar|chr5:90574109-90575794_dbVar|chr5:90611309-90627643_dbVar|chr5:90674000-90680000_dbVar|5:90866987-90867072_gnomAD-SV_v2.1_DUP_5_15730|chr5:90897800-90897875_dbVar|chr5:91276653-91280205_dbVar|chr5:91546845-91547285_dbVar;po_B_loss_someG_source=chr5:88806361-88806411_dbVar|chr5:88831687-88837255_dbVar|chr5:89003565-89004043_dbVar|chr5:89003715-89004039_dbVar|5:89003716-89004039_esv3605750|5:89003721-89004043_esv2657768|chr5:89029798-89029893_dbVar|chr5:89045213-89045498_dbVar|chr5:89047323-89047872_dbVar|chr5:89067203-89083487_dbVar|chr5:89101197-89101273_dbVar|chr5:89113277-89114892_dbVar|chr5:89131325-89131385_dbVar|chr5:89209000-89239000_dbVar|chr5:89257321-89262348_dbVar|chr5:89359000-89373000_dbVar|chr5:89388378-89389723_dbVar|chr5:89436013-89437273_dbVar|chr5:89563059-89564683_dbVar|chr5:89578750-89579142_dbVar...;po_B_loss_someG_coord=chr5:88803653-88817310_dbVar|chr5:88824732-88824785_dbVar|chr5:88832512-88834519_dbVar|5:89003565-89004043_gnomAD-SV_v2.1_DEL_5_59965|5:89003716-89004039_1000g|5:89003721-89004043_IMH|chr5:89018000-89031000_dbVar|chr5:89039679-89039840_dbVar|chr5:89047322-89047872_dbVar|chr5:89052853-89052953_dbVar|chr5:89084915-89086582_dbVar|chr5:89112611-89115172_dbVar|chr5:89124435-89124505_dbVar|chr5:89171348-89171401_dbVar|chr5:89234368-89234446_dbVar|chr5:89299879-89302011_dbVar|chr5:89388306-89389753_dbVar|chr5:89407162-89407215_dbVar|chr5:89471562-89472013_dbVar|chr5:89574182-89585732_dbVar...;Cosmic_ID=1883320|592857|593588|593633|1328155|634829|634852|564142|727176|624588|1888140|2114074|940517|940575|674174|856984|857645|51544|620748|744569|430608|278131|1012046|241490|1048899|1049414|79894|80096|80110|80111|709899|343338|783070|808135|854054|116747|848199|830393|505759|187745|1896842|161012|433625|85336|644330|509507|540671|584871|870987|1042268|1048901|...,.,.,.,.,.,.,.,1048904|278132|1012047|709900|298920|299426|299474|1506541|808136|1048905|412573|792183|792683|213805|278133|744570|2587397|774121|868439|1167734|1235286|1667822|1048906|3092210|1030337|1030338|854055|332918|186491|1832039|344762|1129390|1453730|1591506|1919311|2227613|2411628|2991366|2533050|2100188|2294896|2857514|1919485|988869|1743351|1472404|2485541|1996536|2806466|2114593|1184520|...,.,.,.;Cosmic_mut_typ=loss|gain,.,.,.,.,.,.,.,gain|loss,.,.,.;GC_content_left=0.335;GC_content_right=0.275;Repeat_coord_right=5:91802185-91802338;Repeat_type_right=L2a;HI=.,.,.,.,.,.,.,.,30,.,.,.;TS=.,.,.,.,.,.,.,.,0,.,.,.;DDD_HI_percent=38.97,.,.,5.94,.,38.68,38.97,28.58,25.58,.,10.63,.;ExAC_delZ=0.855259196084686,.,.,0.855259196084686,.,-0.0315707309390069,0.478729015674934,.,.,.,0.745040589608255,.;ExAC_dupZ=1.02927857149332,.,.,1.02927857149332,.,0.414676882744812,0.798950378312061,.,.,.,1.00834122048279,.;ExAC_cnvZ=1.26063232799998,.,.,1.26063232799998,.,0.420940108293089,0.929744998199481,.,.,.,1.19108832249232,.;ExAC_synZ=1.13380694792028,.,.,-1.0886019180172,.,1.13380694792028,0.494543657071353,0.0616099264393714,.,.,0.196967347879621,.;ExAC_misZ=1.83366808117122,.,.,0.322004765294048,.,0.9911283716698,-0.512733755306802,-0.398837217747125,.,.,1.83366808117122,.;GenCC_disease=.,.,.,.,.,.,.,.,Usher_syndrome_type_2|Usher_syndrome_type_2C|febrile_seizures,_familial,_4|nonsyndromic_genetic_hearing_loss,.,.,.;GenCC_moi=.,.,.,.,.,.,.,.,AD|AR,.,.,.;GenCC_classification=.,.,.,.,.,.,.,.,Definitive|Disputed_Evidence|Limited|Strong|Supportive,.,.,.;GenCC_pmid=.,.,.,.,.,.,.,.,14740321|16775142|19357116|19357117|20301515[PMID]|22135276|22147658|23441107|25572244|280396,.,.,.;NCBI_gene_ID=.,100500825,101929495,1070,.,153364,10622,116068,84059,100505994,57561,100129716;OMIM_ID=602851,.,.,.,.,.,.,.,602851,.,.,.;OMIM_phenotype=.,.,.,.,.,.,.,.,?Febrile_seizures,_familial,_4,_604352_(3)_AD|Usher_syndrome,_type_2C,_605472_(3)_Digenic_dominant,AR|Usher_syndrome,_type_2C,_GPR98/PDZD7_digenic,_605472_(3)_Digenic_dominant,AR,.,.,.;OMIM_inheritance=.,.,.,.,.,.,.,.,AD|Digenic_dominant,AR,.,.,.;OMIM_morbid=yes,.,.,.,.,.,.,.,yes,.,.,.;OMIM_morbid_candidate=yes,.,.,.,.,.,.,.,yes,.,.,.;LOEUF_bin=1,.,.,7,.,7,8,3,.,.,1,.;GnomAD_pLI=0.98715,.,.,0.00010528,.,4.5418e-05,1.7611e-10,0.30382,.,.,0.98715,.;ExAC_pLI=0.97875,.,.,0.011321,.,0.0002801,6.4276e-05,0.77182,.,.,0.97875,.;AnnotSV_ranking_score=1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2A_(cf_P_loss_source,_+1.00)|3A_(11_genes,_+0.00)|5F_(+0.00);ACMG_class=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5;END=91802402;SVLEN=-3028073 GT 1/. 6 266080 . C . PASS AnnotSV_ID=6_266080_362290_DEL_1;SV_start=266080;Biologist_ranking=Benign;Annotation_mode=full,split;CytoBand=p25.3;Gene_name=DUSP22;Closest_left=LOC285766;Closest_right=IRF4;Gene_count=1;Tx=.,NM_001286555;Tx_version=.,3;Tx_start=.,292486;Tx_end=.,351355;Overlapped_tx_length=.,58869;Overlapped_CDS_length=.,618;Overlapped_CDS_percent=.,100;Frameshift=.,no;Exon_count=.,7;Location=.,txStart-txEnd;Location2=.,5'UTR-3'UTR;Intersect_start=.,292486;Intersect_end=.,351355;RE_gene=EXOC2_(morbid/RE=ABC_enhancer+EA_enhancer+GH_promoter_enhancer)|FOXC1_(HI=3/morbid/RE=ABC_enhancer);po_P_gain_source=dbVar:nssv15166690|dbVar:nssv15132417|dbVar:nssv15166692|dbVar:nssv15120571|dbVar:nssv17649861|dbVar:nssv15138806|dbVar:nssv15150238|dbVar:nssv15136852|dbVar:nssv15137715|dbVar:nssv15139508|dbVar:nssv15139953|dbVar:nssv15154408|dbVar:nssv15154409|dbVar:nssv15772668|dbVar:nssv15161578|dbVar:nssv15161859|nssv15161868|dbVar:nssv15132517|dbVar:nssv15133942|dbVar:nssv15135449|dbVar:nssv15131978|dbVar:nssv15168255|dbVar:nssv15124407|nssv15153178|dbVar:nssv15124483|dbVar:nssv16255328;po_P_gain_coord=6:60108-171054786|6:106432-18360826|6:108667-170980171|6:144958-5239414|6:149620-3951208|6:152635-14417234|6:152635-15732394|6:152635-6027780|6:155808-17058645|6:156975-11551050|6:156975-13081433|6:156975-13502033|6:156975-21955964|6:156975-23221621|6:156975-46757028|6:156976-170919482|6:163084-1951585|6:163084-2029765|6:163084-9525729|6:164361-13340113|6:165633-170919470|6:168776-24023234|6:255351-3189972|6:302184-3290583;po_P_gain_percent=0.06|0.53|0.06|1.89|2.53|0.67|0.62|1.64|0.57|0.84|0.74|0.72|0.44|0.42|0.21|0.06|5.38|5.15|1.03|0.73|0.06|0.40|3.28|2.01;po_P_loss_source=dbVar:nssv15127418|dbVar:nssv15133557|dbVar:nssv15168254|dbVar:nssv15134981|dbVar:nssv15135893|dbVar:nssv15139184|dbVar:nssv16254736|dbVar:nssv15139679|dbVar:nssv15151182|dbVar:nssv16208808|dbVar:nssv15152915|dbVar:nssv15137052|dbVar:nssv15142299|dbVar:nssv15138353|dbVar:nssv18330309|dbVar:nssv15133558|dbVar:nssv15134713|dbVar:nssv15132439|dbVar:nssv15132039|dbVar:nssv15133559|dbVar:nssv15132182|dbVar:nssv15132440|dbVar:nssv15137716|dbVar:nssv15125242|dbVar:nssv15141126|dbVar:nssv15124398|dbVar:nssv15124411;po_P_loss_coord=6:60524-1768235|6:107683-4979015|6:108667-1505511|6:152635-5315912|6:152635-6027780|6:152635-6290037|6:152850-1888703|6:156975-13856156|6:156975-2030623|6:156975-2208360|6:156975-3398920|6:156975-4907926|6:156975-6417749|6:156975-7122992|6:156976-3718881|6:163084-2724845|6:163084-3459841|6:163084-5875635|6:163084-6063033|6:164634-5823834|6:164634-6284470|6:165676-9036267|6:170427-1622218|6:180960-2180143|6:195230-2117379|6:204010-11608587|6:204010-6447311;po_P_loss_percent=5.63|1.98|6.89|1.86|1.64|1.57|5.54|0.70|5.13|4.69|2.97|2.03|1.54|1.38|2.70|3.76|2.92|1.68|1.63|1.70|1.57|1.08|6.63|4.81|5.01|0.84|1.54;B_gain_source=DDD:19553|DDD:19555|dbVar|dgv140e203|nsv514340;B_gain_coord=6:230528-373346|6:236002-373603|chr6:256313-383004|6:257333-380527|6:257354-382897;B_gain_AFmax=0.6839;B_loss_source=DDD:19555|dbVar|dgv1701e212;B_loss_coord=chr6:180946-734275|6:236002-373603|6:254255-385771;B_loss_AFmax=0.187;po_B_gain_someG_source=6:236002-373603_DDD:19555|6:253364-302293_dgv1695e212|chr6:256313-383004_dbVar|6:256503-293373_1000g|6:257333-380527_nsv514340|6:257354-294837_esv2421434|6:259529-339802_TS40:ISCA-37471|chr6:296702-383004_dbVar|chr6:305181-340601_dbVar|6:305182-340601_1000g|chr6:327586-368712_dbVar|6:327587-368712_1000g|6:344136-379149_DDD:19570;po_B_gain_someG_coord=6:230528-373346_DDD:19553|6:253364-294911_dgv1694e212|chr6:256313-296702_dbVar|chr6:256502-293373_dbVar|6:256503-293373_dgv1157e214|6:257354-293393_DDD:19561|6:257354-382897_dgv140e203|6:294125-385771_dgv1705e212|6:298701-379015_esv2421645|6:305182-340601_1000g|6:305182-340601_dgv1158e214|6:327587-368712_1000g|6:327587-368712_dgv1159e214;po_B_loss_someG_source=6:236002-373603_DDD:19555|6:254255-385771_dgv1701e212|chr6:295586-296060_dbVar|chr6:295710-295782_dbVar|chr6:314312-314882_dbVar|chr6:340942-340994_dbVar|;po_B_loss_someG_coord=chr6:180946-734275_dbVar|6:252694-302294_dgv1693e212|6:259529-339802_HI40:ISCA-37471|6:295586-296060_gnomAD-SV_v2.1_DEL_6_65910|chr6:299088-299161_dbVar|chr6:329960-330054_dbVar|chr6:340943-340994_dbVar;Cosmic_ID=857006|857659|609630|1938466|994363|887275|902698|2603845|857660|744870|744873|1429292|1807702|1591974|744881|746818|747174|1068500|1072273|1905160,1938466|994363|887275|902698|857660|744870|744873|1429292|1591974|744881|746818|747174|1068500|1072273;Cosmic_mut_typ=gain|loss,loss|gain;GC_content_left=0.365;GC_content_right=0.315;Repeat_coord_left=6:266156-266836;Repeat_type_left=L1MC3;Repeat_coord_right=6:362320-362381;Repeat_type_right=MIRc;ENCODE_blacklist_left=6:256601-382800;ENCODE_blacklist_characteristics_left=High_Signal_Region;ENCODE_blacklist_right=6:256601-382800;ENCODE_blacklist_characteristics_right=High_Signal_Region;DDD_HI_percent=38.68;ExAC_synZ=-1.35330421932959;ExAC_misZ=-0.982727799381157;NCBI_gene_ID=.,56940;LOEUF_bin=5;GnomAD_pLI=0.0093421;ExAC_pLI=0.0043071;AnnotSV_ranking_score=-1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2F/4O_(cf_B_loss_source,_-1.00)|2B_(cf_po_P_loss_source,_HI,_OMIM_morbid,_+0.00)|3A_(1_gene,_+0.00)|5F_(+0.00);ACMG_class=1,full=1;END=362290;SVLEN=-96210 GT 1/. 6 29854871 . G . PASS AnnotSV_ID=6_29854871_29896710_DEL_1;SV_start=29854871;Biologist_ranking=Benign;Annotation_mode=full,split,split;CytoBand=p22.1;Gene_name=HLA-H|HCG4B,HLA-H,HCG4B;Closest_left=HCP5B;Closest_right=HLA-A;Gene_count=2;Tx=.,NR_001434,NR_001317;Tx_version=.,4,3;Tx_start=.,29855349,29892368;Tx_end=.,29858856,29894992;Overlapped_tx_length=.,3507,2624;Overlapped_CDS_length=.,0,0;Overlapped_CDS_percent=.,0,0;Frameshift=.,no,no;Exon_count=.,8,1;Location=.,txStart-txEnd,txStart-txEnd;Location2=.,UTR,UTR;Intersect_start=.,29855349,29892368;Intersect_end=.,29858856,29894992;RE_gene=GABBR1_(morbid/RE=EA_enhancer)|ZFP57_(morbid/RE=EA_enhancer+GH_enhancer+GH_promoter_enhancer);P_loss_source=morbid:HLA-H,morbid:HLA-H,.;P_loss_coord=6:29855350-29858856,6:29855350-29858856,.;po_P_gain_source=dbVar:nssv15166690|dbVar:nssv15166692|dbVar:nssv15161578|dbVar:nssv15161859|nssv15161868|dbVar:nssv15168255|dbVar:nssv15148873|dbVar:nssv15606075;po_P_gain_coord=6:60108-171054786|6:108667-170980171|6:156975-46757028|6:156976-170919482|6:165633-170919470|6:3224545-30624967|6:29455466-81447367;po_P_gain_percent=0.02|0.02|0.09|0.02|0.02|0.15|0.08;po_P_loss_source=dbVar:nssv17955655;po_P_loss_coord=6:28005013-31683185;po_P_loss_percent=1.14;B_gain_source=DDD:20149|IMH|dbVar;B_gain_coord=6:29698616-29950994|6:29722846-29947201|6:29723410-29948590|6:29733227-29961287|6:29760864-29916953|6:29762617-29919277|6:29767291-29923611|6:29767394-29923982|6:29771866-29927541|chr6:29833263-29905667|6:29840747-29917149,6:29698616-29950994|6:29722846-29947201|6:29723410-29948590|6:29733227-29961287|6:29760864-29916953|6:29762617-29919277|6:29767291-29923611|6:29767394-29923982|6:29769716-29865367|6:29771866-29927541|6:29773145-29867669|6:29777143-29871794|6:29778441-29873573|chr6:29833263-29905667|6:29840747-29917149,6:29698616-29950994|6:29722846-29947201|6:29723410-29948590|6:29733227-29961287|6:29760864-29916953|6:29762617-29919277|6:29767291-29923611|6:29767394-29923982|6:29771866-29927541|chr6:29833263-29905667|6:29840747-29917149;B_gain_AFmax=0.1073;B_loss_source=1000g|DDD:20139|DDD:20142|DDD:20149|DDD:20154|IMH|dbVar|dgv1087e199|dgv7e195|esv2761013|esv2763941|esv3608493,1000g|DDD:20139|DDD:20142|DDD:20149|DDD:20154|IMH|dbVar|dgv1087e199|dgv1726e212|dgv7e195|esv2422126|esv2761013|esv2763941|esv3608493,1000g|DDD:20139|DDD:20142|DDD:20149|DDD:20154|DDD:20157|IMH|dbVar|dgv1087e199|dgv1089e199|dgv1734e212|dgv7e195|esv2761013|esv2763941|esv3608493;B_loss_coord=6:29745199-29961072|6:29805446-29928380|6:29836637-29921127|6:29837073-29937311|6:29840747-29917149|6:29842746-29916111|6:29851122-29905999|chr6:29851172-29904515|6:29851173-29904515|6:29851173-29904515|6:29851444-29899493|6:29853315-29914786,6:29745199-29961072|6:29805446-29928380|6:29829109-29874629|6:29836637-29921127|6:29837073-29937311|6:29840747-29917149|6:29842746-29916111|6:29851122-29905999|chr6:29851172-29904515|6:29851173-29904515|6:29851173-29904515|6:29851444-29865718|6:29851444-29899493|6:29853315-29914786,6:29745199-29961072|6:29805446-29928380|6:29836637-29921127|6:29837073-29937311|6:29840747-29917149|6:29842746-29916111|6:29851122-29905999|chr6:29851172-29904515|6:29851173-29904515|6:29851173-29904515|6:29851444-29899493|6:29853315-29914786|6:29861152-29916006|6:29864510-29936194|6:29890896-29906192|6:29891102-29906000;B_loss_AFmax=0.4519;B_inv_source=IMH;B_inv_coord=6:26743912-58149585|6:26745294-58149309;B_inv_AFmax=0.3871;po_B_gain_someG_source=6:29722846-29947201_IMH|6:29733227-29961287_IMH|6:29762617-29919277_IMH|6:29767394-29923982_IMH|6:29771866-29927541_IMH|6:29777143-29871794_IMH|chr6:29833263-29905667_dbVar|;po_B_gain_someG_coord=6:29698616-29950994_IMH|6:29723410-29948590_IMH|6:29760864-29916953_IMH|6:29767291-29923611_IMH|6:29769716-29865367_IMH|6:29773145-29867669_IMH|6:29778441-29873573_IMH|6:29840747-29917149_DDD:20149;po_B_loss_someG_source=6:29805446-29928380_DDD:20142|6:29836637-29921127_esv2763941|6:29840747-29917149_DDD:20149|6:29851122-29905999_IMH|6:29851173-29904515_1000g|6:29851444-29865718_esv2422126|6:29853315-29914786_DDD:20154|6:29861152-29916006_IMH|6:29864510-29936194_dgv1734e212|6:29890896-29906192_dgv1089e199|6:29892561-29905834_HI40:ISCA-46607;po_B_loss_someG_coord=6:29745199-29961072_DDD:20139|6:29829109-29874629_dgv1726e212|6:29837073-29937311_esv2761013|6:29842746-29916111_dgv1087e199|chr6:29851172-29904515_dbVar|6:29851173-29904515_esv3608493|6:29851444-29899493_dgv7e195|6:29859518-29886164_dgv740n27|6:29864510-29889669_dgv1732e212|6:29873934-29890069_nsv515032|6:29891102-29906000_DDD:20157;GC_content_left=0.375;GC_content_right=0.51;SegDup_left=6:29842025-29863148;NCBI_gene_ID=.,3077,80868;OMIM_morbid=yes,yes,.;AnnotSV_ranking_score=1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2A_(cf_P_loss_source,_+1.00)|3A_(2_genes,_+0.00)|5F_(+0.00);ACMG_class=5,full=5,full=5;END=29896710;SVLEN=-41839 GT 1/. 6 78979173 . G . PASS AnnotSV_ID=6_78979173_79023328_DEL_1;SV_start=78979173;Biologist_ranking=Benign;Annotation_mode=full;CytoBand=q14.1;Closest_left=MEI4;Closest_right=MIR10524;Gene_count=0;po_P_gain_source=dbVar:nssv15166690|dbVar:nssv15166692|dbVar:nssv15161859|nssv15161868|dbVar:nssv15168255|dbVar:nssv15606075|dbVar:nssv17970109|dbVar:nssv15148895;po_P_gain_coord=6:60108-171054786|6:108667-170980171|6:156976-170919482|6:165633-170919470|6:29455466-81447367|6:69938253-94379210|6:75092524-142361637;po_P_gain_percent=0.03|0.03|0.03|0.03|0.08|0.18|0.07;po_P_loss_source=dbVar:nssv17976865|dbVar:nssv15138420|dbVar:nssv17957115|dbVar:nssv17956905|dbVar:nssv15154430|dbVar:nssv16255333|dbVar:nssv15139907|dbVar:nssv16215036;po_P_loss_coord=6:64954688-79581678|6:65259549-84136510|6:70165297-79920769|6:72799055-83275894|6:73674613-84829774|6:74226560-80208037|6:76635917-93420511|6:78562076-79746800;po_P_loss_percent=0.30|0.23|0.45|0.42|0.40|0.74|0.26|3.73;B_gain_source=DDD:21366|dbVar|dgv768n27|nsv516597;B_gain_coord=chr6:78847213-79050801|chr6:78847817-79479628|6:78848098-79052702|chr6:78892808-79053430|6:78950789-79066065|chr6:78967097-79036275|6:78973202-79031742;B_gain_AFmax=0.3704;B_loss_source=1000g|DDD:21366|DDD:21369|DDD:21373|IMH|dbVar|dgv10802n54|dgv1137e199|dgv1810e212|dgv1811e212|dgv6030n100|dgv6037n100|dgv766n27|dgv767n27|dgv769n27|esv2422170|esv2760997|esv2763987|esv3609657|esv3609663|esv3890888|gnomAD-SV_v2.1_DEL_6_70839|nsv514376|nsv516597;B_loss_coord=6:78836835-79051952|6:78848098-79052702|chr6:78892808-79053430|6:78892809-79053430|6:78892809-79053430|6:78950789-79066065|6:78961945-79041809|6:78962294-79041760|6:78962541-79031742|6:78962541-79052702|6:78962582-79027502|6:78962582-79041797|chr6:78962843-79034588|6:78965526-79033478|chr6:78967097-79036275|6:78967098-79036275|6:78967098-79036275|6:78967173-79036477|chr6:78967187-79036419|6:78967187-79036419|6:78967195-79036475|6:78967195-79036497|6:78969054-79027758|6:78969066-79031970|6:78969066-79035185|6:78972098-79031153|6:78972931-79033478|6:78973202-79031742;B_loss_AFmax=0.4631;B_inv_source=IMH;B_inv_coord=6:49889718-107723757;B_inv_AFmax=0.1414;po_B_gain_someG_source=chr6:78847817-79479628_dbVar|chr6:78892808-79053430_dbVar|6:78963972-78992918_DDD:21367|6:78973202-79031742_dgv768n27|;po_B_gain_someG_coord=chr6:78847213-79050801_dbVar|6:78848098-79052702_nsv516597|6:78950789-79066065_DDD:21366|chr6:78967097-79036275_dbVar|6:78999918-79033124_DDD:21375;po_B_loss_someG_source=6:78848098-79052702_nsv516597|6:78892809-79053430_1000g|6:78950789-79066065_DDD:21366|6:78962294-79041760_dgv1810e212|6:78962541-79052702_dgv767n27|6:78962582-79041797_dgv6030n100|6:78965526-79033478_esv3890888|6:78967098-79036275_1000g|6:78967173-79036477_IMH|6:78967187-79036419_gnomAD-SV_v2.1_DEL_6_70839|6:78967195-79036497_dgv1137e199|6:78969066-79031970_DDD:21373|6:78972098-79031153_nsv514376|6:78973202-79031742_dgv769n27;po_B_loss_someG_coord=6:78836835-79051952_esv2760997|chr6:78892808-79053430_dbVar|6:78892809-79053430_esv3609657|6:78961945-79041809_esv2763987|6:78962541-79031742_dgv766n27|6:78962582-79027502_dgv1811e212|chr6:78962843-79034588_dbVar|chr6:78967097-79036275_dbVar|6:78967098-79036275_esv3609663|chr6:78967187-79036419_dbVar|6:78967195-79036475_DDD:21369|6:78969054-79027758_dgv6037n100|6:78969066-79035185_esv2422170|6:78972931-79033478_dgv10802n54;GC_content_left=0.325;GC_content_right=0.27;AnnotSV_ranking_score=-1.6;AnnotSV_ranking_criteria=1B_(cf_Gene_count,_RE_gene,_-0.60)|2F/4O_(cf_B_loss_source,_-1.00)|2B_(cf_po_P_loss_source,_HI,_OMIM_morbid,_+0.00)|3A_(0_gene,_+0.00)|5F_(+0.00);ACMG_class=1;END=79023328;SVLEN=-44155 GT 1/. -7 33397468 . C . PASS AnnotSV_ID=7_33397468_33397607_DEL_1;SV_start=33397468;Biologist_annotation=BBS9_inframe;Biologist_ranking=Pathogenic;Annotation_mode=full,split;CytoBand=p14.3;Gene_name=BBS9;Closest_left=RP9;Closest_right=FLJ20712;Gene_count=1;Tx=.,NM_001348036;Tx_version=.,1;Tx_start=.,33168896;Tx_end=.,33645680;Overlapped_tx_length=.,140;Overlapped_CDS_length=.,140;Overlapped_CDS_percent=.,5;Frameshift=.,yes;Exon_count=.,23;Location=.,exon16-intron16;Location2=.,CDS;Dist_nearest_SS=.,0;Nearest_SS_type=.,5';Intersect_start=.,33397467;Intersect_end=.,33397607;po_P_gain_source=dbVar:nssv15777247|dbVar:nssv15168013|dbVar:nssv15161666|nssv15161679|dbVar:nssv15168014|dbVar:nssv15161745|dbVar:nssv15161726|dbVar:nssv17970196|dbVar:nssv15161869|dbVar:nssv15161632|dbVar:nssv17970205|dbVar:nssv15133397|dbVar:nssv15154527|dbVar:nssv15146465;po_P_gain_coord=7:10366-159119707|7:10705-159122532|7:43362-159119707|7:44936-159126310|7:54186-37129317|7:54186-41915483|7:10745751-35305167|7:11048841-52863626|7:11562625-36395416|7:27507833-39072473|7:30460550-34600277|7:30463887-43470805|7:33367925-61831899;po_P_gain_percent=0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00;po_P_loss_phen=Bardet-Biedl_syndrome_9,_615986_(3)_AR;po_P_loss_source=dbVar:nssv15161318|dbVar:nssv17976840|dbVar:nssv18329275|dbVar:nssv15138559|dbVar:nssv15147510|dbVar:nssv15148432|morbid:BBS9|dbVar:nssv17971381|dbVar:nssv18790316|dbVar:nssv18790317;po_P_loss_coord=7:54186-159075079|7:25451741-33864069|7:27133787-34466477|7:30977986-33440608|7:32718004-41084581|7:32911004-44576005|7:33169176-33675379|7:33296829-33427776|7:33376034-33427776|7:33388661-33397627;po_P_loss_percent=0.00|0.00|0.00|0.01|0.00|0.00|0.03|0.11|0.27|1.56;P_snvindel_nb=1;P_snvindel_phen=Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_9;B_gain_source=dbVar;B_gain_coord=chr7:32726588-35070337;B_gain_AFmax=0.01;B_inv_source=IMH;B_inv_coord=7:23891013-65526751|7:33013222-55782515;B_inv_AFmax=0.381;po_B_gain_someG_coord=chr7:32726588-35070337_dbVar;GC_content_left=0.325;GC_content_right=0.37;DDD_HI_percent=17.13;ExAC_delZ=-2.43637392050626;ExAC_dupZ=-2.53125239294469;ExAC_cnvZ=-2.47162789907313;ExAC_synZ=-0.989035894351638;ExAC_misZ=-1.15018109964609;GenCC_disease=.,Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_9|ciliopathy;GenCC_moi=.,AR;GenCC_classification=.,Definitive|Strong|Supportive;GenCC_pmid=.,16380913|20177705|20301537[PMID]|21209035|22353939|250490|251248|268436|282550;NCBI_gene_ID=.,27241;OMIM_ID=607968;OMIM_phenotype=.,Bardet-Biedl_syndrome_9,_615986_(3)_AR;OMIM_inheritance=.,AR;OMIM_morbid=yes;LOEUF_bin=4;GnomAD_pLI=4.2117e-17;ExAC_pLI=6.3752e-10;AnnotSV_ranking_score=0.9;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2E-1_(BBS9,_+0.90)|3A_(1_gene,_+0.00)|5F_(+0.00);ACMG_class=4,full=4;END=33397607;SVLEN=-139 GT 1/. +7 33397468 . C . PASS AnnotSV_ID=7_33397468_33397607_DEL_1;SV_start=33397468;Biologist_annotation=BBS9_inframe;Biologist_ranking=Pathogenic;Annotation_mode=full,split;CytoBand=p14.3;Gene_name=BBS9;Closest_left=RP9;Closest_right=FLJ20712;Gene_count=1;Tx=.,NM_001348036;Tx_version=.,1;Tx_start=.,33168896;Tx_end=.,33645680;Overlapped_tx_length=.,140;Overlapped_CDS_length=.,140;Overlapped_CDS_percent=.,5;Frameshift=.,yes;Exon_count=.,23;Location=.,exon16-intron16;Location2=.,CDS;Dist_nearest_SS=.,0;Nearest_SS_type=.,5';Intersect_start=.,33397467;Intersect_end=.,33397607;po_P_gain_source=dbVar:nssv15777247|dbVar:nssv15168013|dbVar:nssv15161666|nssv15161679|dbVar:nssv15168014|dbVar:nssv15161745|dbVar:nssv15161726|dbVar:nssv17970196|dbVar:nssv15161869|dbVar:nssv15161632|dbVar:nssv17970205|dbVar:nssv15133397|dbVar:nssv15154527|dbVar:nssv15146465;po_P_gain_coord=7:10366-159119707|7:10705-159122532|7:43362-159119707|7:44936-159126310|7:54186-37129317|7:54186-41915483|7:10745751-35305167|7:11048841-52863626|7:11562625-36395416|7:27507833-39072473|7:30460550-34600277|7:30463887-43470805|7:33367925-61831899;po_P_gain_percent=0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00|0.00;po_P_loss_phen=Bardet-Biedl_syndrome_9,_615986_(3)_AR;po_P_loss_source=dbVar:nssv15161318|dbVar:nssv17976840|dbVar:nssv18329275|dbVar:nssv15138559|dbVar:nssv15147510|dbVar:nssv15148432|morbid:BBS9|dbVar:nssv17971381|dbVar:nssv18790316|dbVar:nssv18790317;po_P_loss_coord=7:54186-159075079|7:25451741-33864069|7:27133787-34466477|7:30977986-33440608|7:32718004-41084581|7:32911004-44576005|7:33169176-33675379|7:33296829-33427776|7:33376034-33427776|7:33388661-33397627;po_P_loss_percent=0.00|0.00|0.00|0.01|0.00|0.00|0.03|0.11|0.27|1.56;P_snvindel_nb=1;P_snvindel_phen=Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_9;B_gain_source=dbVar;B_gain_coord=chr7:32726588-35070337;B_gain_AFmax=0.01;B_inv_source=IMH;B_inv_coord=7:23891013-65526751|7:33013222-55782515;B_inv_AFmax=0.381;po_B_gain_someG_coord=chr7:32726588-35070337_dbVar;GC_content_left=0.325;GC_content_right=0.37;DDD_HI_percent=17.13;ExAC_delZ=-2.43637392050626;ExAC_dupZ=-2.53125239294469;ExAC_cnvZ=-2.47162789907313;ExAC_synZ=-0.989035894351638;ExAC_misZ=-1.15018109964609;GenCC_disease=.,Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_9;GenCC_moi=.,AR;GenCC_classification=.,Definitive|Strong|Supportive;GenCC_pmid=.,16380913|20177705|20301537[PMID]|21209035|22353939|250490|251248|268436|282550;NCBI_gene_ID=.,27241;OMIM_ID=607968;OMIM_phenotype=.,Bardet-Biedl_syndrome_9,_615986_(3)_AR;OMIM_inheritance=.,AR;OMIM_morbid=yes;LOEUF_bin=4;GnomAD_pLI=4.2117e-17;ExAC_pLI=6.3752e-10;AnnotSV_ranking_score=0.9;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2E-1_(BBS9,_+0.90)|3A_(1_gene,_+0.00)|5F_(+0.00);ACMG_class=4,full=4;END=33397607;SVLEN=-139 GT 1/. 7 38296177 . G . PASS AnnotSV_ID=7_38296177_38352444_DEL_1;SV_start=38296177;Biologist_ranking=Benign;Annotation_mode=full,split;CytoBand=p14.1;Gene_name=TARP;Closest_left=STARD3NL;Closest_right=TRG-AS1;Gene_count=1;Tx=.,NM_001003806;Tx_version=.,2;Tx_start=.,38299243;Tx_end=.,38313237;Overlapped_tx_length=.,13994;Overlapped_CDS_length=.,336;Overlapped_CDS_percent=.,100;Frameshift=.,no;Exon_count=.,4;Location=.,txStart-txEnd;Location2=.,5'UTR-3'UTR;Intersect_start=.,38299243;Intersect_end=.,38313237;RE_gene=SFRP4_(morbid/RE=ABC_enhancer)|VPS41_(morbid/RE=ABC_enhancer);po_P_gain_source=dbVar:nssv15777247|dbVar:nssv15168013|dbVar:nssv15161666|nssv15161679|dbVar:nssv15168014|dbVar:nssv15161726|dbVar:nssv15161869|dbVar:nssv17970205|dbVar:nssv15154527|dbVar:nssv15146465|dbVar:nssv15166972;po_P_gain_coord=7:10366-159119707|7:10705-159122532|7:43362-159119707|7:44936-159126310|7:54186-41915483|7:11048841-52863626|7:27507833-39072473|7:30463887-43470805|7:33367925-61831899|7:37213109-40255122;po_P_gain_percent=0.04|0.04|0.04|0.04|0.13|0.13|0.49|0.43|0.20|1.85;po_P_loss_source=dbVar:nssv15161318|dbVar:nssv15147510|dbVar:nssv15148432|dbVar:nssv15147453|dbVar:nssv15145850|dbVar:nssv15148950;po_P_loss_coord=7:54186-159075079|7:32718004-41084581|7:32911004-44576005|7:35500387-42053399|7:37343083-48700334|7:38217602-45343699;po_P_loss_percent=0.04|0.67|0.48|0.86|0.50|0.79;B_gain_source=dgv1888e212;B_gain_coord=7:38286516-38394857;B_gain_AFmax=0.01;B_loss_source=.,dbVar;B_loss_coord=.,chr7:38295995-38331222;B_loss_AFmax=.,0.01;B_inv_source=IMH;B_inv_coord=7:23891013-65526751|7:33013222-55782515;B_inv_AFmax=0.381;po_B_gain_someG_source=7:38286516-38394857_dgv1888e212|chr7:38288427-38299834_dbVar|chr7:38292243-38299454_dbVar|chr7:38292598-38299075_dbVar|chr7:38292954-38305344_dbVar|chr7:38296039-38299834_dbVar|chr7:38300094-38304944_dbVar|chr7:38300094-38309816_dbVar|chr7:38301678-38304944_dbVar|chr7:38304944-38313034_dbVar|chr7:38305344-38309816_dbVar|chr7:38315596-38318010_dbVar|chr7:38315847-38318271_dbVar|chr7:38316099-38318010_dbVar;po_B_gain_someG_coord=7:38283523-38309532_DDD:23873|chr7:38288205-38309816_dbVar|chr7:38292243-38297557_dbVar|chr7:38292243-38300094_dbVar|chr7:38292954-38297557_dbVar|chr7:38296039-38299075_dbVar|chr7:38299075-38299834_dbVar|chr7:38300094-38305344_dbVar|chr7:38301678-38302623_dbVar|chr7:38302623-38304944_dbVar|chr7:38305144-38312727_dbVar|chr7:38315596-38316099_dbVar|chr7:38315771-38317054_dbVar|chr7:38315946-38318532_dbVar;po_B_loss_someG_source=chr7:38309816-38312727_dbVar|chr7:38312421-38313034_dbVar|chr7:38318010-38318532_dbVar|chr7:38321639-38325867_dbVar|chr7:38325667-38325867_dbVar|chr7:38325667-38328166_dbVar|chr7:38331989-38335441_dbVar|chr7:38331989-38336295_dbVar|chr7:38348388-38349972_dbVar;po_B_loss_someG_coord=chr7:38295995-38331222_dbVar|chr7:38309816-38313034_dbVar|chr7:38315910-38331224_dbVar|chr7:38321639-38325667_dbVar|chr7:38321639-38326916_dbVar|chr7:38325667-38327016_dbVar|chr7:38325867-38328166_dbVar|chr7:38331989-38335610_dbVar|chr7:38335441-38335779_dbVar;GC_content_left=0.365;GC_content_right=0.32;Repeat_coord_left=7:38296252-38296527;Repeat_type_left=AluSx;SegDup_left=7:38284220-38298557;AnnotSV_ranking_score=0;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2B_(cf_po_P_loss_source,_HI,_OMIM_morbid,_+0.00)|2G_(cf_po_B_loss_someG_source,_+0.00)|3A_(1_gene,_+0.00)|5F_(+0.00);ACMG_class=3,full=3;END=38352444;SVLEN=-56267 GT 1/. 7 72726579 . T . PASS AnnotSV_ID=7_72726579_74139390_DEL_1;SV_start=72726579;Biologist_annotation=Williams_syndrom;Biologist_ranking=Pathogenic;Annotation_mode=full,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split;CytoBand=q11.23;Gene_name=TRIM50|FKBP6|FZD9|BAZ1B|BCL7B|TBL2|MLXIPL|VPS37D|DNAJC30|BUD23|STX1A|MIR4284|ABHD11-AS1|ABHD11|CLDN3|CLDN4|METTL27|TMEM270|ELN|LIMK1|EIF4H|MIR590|LAT2|RFC2|CLIP2|GTF2IRD1|MIR10525|GTF2I|GTF2I-AS1,TRIM50,FKBP6,FZD9,BAZ1B,BCL7B,TBL2,MLXIPL,VPS37D,DNAJC30,BUD23,STX1A,MIR4284,ABHD11-AS1,ABHD11,CLDN3,CLDN4,METTL27,TMEM270,ELN,LIMK1,EIF4H,MIR590,LAT2,RFC2,CLIP2,GTF2IRD1,MIR10525,GTF2I,GTF2I-AS1;Closest_left=NSUN5;Closest_right=NCF1;Gene_count=29;Tx=.,NM_178125,NM_003602,NM_003508,NM_001370402,NM_001301061,NM_012453,NM_032951,NM_001077621,NM_032317,NM_001202560,NM_004603,NR_036247,NR_026690,NM_148912,NM_001306,NM_001305,NM_152559,NM_182504,NM_001278939,NM_002314,NM_022170,NR_030321,NM_014146,NM_181471,NM_003388,NM_001199207,NR_162116,NM_032999,NR_110044;Tx_version=.,3,5,3,1,2,4,3,2,3,3,4,1,1,4,4,5,3,4,2,4,2,1,4,3,5,2,1,4,1;Tx_start=.,72726531,72742163,72848107,72854735,72950685,72981866,73007531,73082160,73095247,73097926,73113539,73125646,73149398,73150423,73183326,73245325,73248919,73275488,73442502,73498133,73588685,73605527,73624335,73645831,73703736,73868235,74010294,74072043,74103270;Tx_end=.,72742085,72772634,72850450,72936623,72972020,72992909,73038852,73086440,73097783,73112542,73133999,73125727,73150330,73153132,73184600,73247020,73256846,73280220,73484237,73536855,73611426,73605624,73644164,73668729,73820265,74016931,74010353,74175022,74143256;Overlapped_tx_length=.,15507,30471,2343,81888,21335,11043,31321,4280,2536,14616,20460,81,932,2709,1274,1695,7927,4732,41735,38722,22741,97,19829,22898,116529,148696,59,67347,36120;Overlapped_CDS_length=.,1464,984,1776,4452,642,1344,2559,756,681,897,867,0,0,921,663,630,738,798,2361,1944,747,0,732,1065,3141,2931,0,943,0;Overlapped_CDS_percent=.,100,100,84,100,100,100,100,100,95,100,100,0,0,100,75,42,100,100,100,100,100,0,100,100,100,100,0,31,0;Frameshift=.,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,yes,no;Exon_count=.,7,9,1,19,7,7,17,4,1,13,10,1,4,6,1,1,6,3,34,16,7,1,13,11,17,27,1,35,4;Location=.,txStart-exon7,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-intron12,intron2-txEnd;Location2=.,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-CDS,UTR;Dist_nearest_SS=.,928,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,3733,2349;Nearest_SS_type=.,3',.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,3',5';Intersect_start=.,72726578,72742163,72848107,72854735,72950685,72981866,73007531,73082160,73095247,73097926,73113539,73125646,73149398,73150423,73183326,73245325,73248919,73275488,73442502,73498133,73588685,73605527,73624335,73645831,73703736,73868235,74010294,74072043,74103270;Intersect_end=.,72742085,72772634,72850450,72936623,72972020,72992909,73038852,73086440,73097783,73112542,73133999,73125727,73150330,73153132,73184600,73247020,73256846,73280220,73484237,73536855,73611426,73605624,73644164,73668729,73820265,74016931,74010353,74139390,74139390;RE_gene=ACOX1_(morbid/RE=mTL_miRNA)|ACSL6_(morbid/RE=mTL_miRNA)|AGO2_(morbid/RE=mTL_miRNA)|AGTPBP1_(morbid/RE=mTL_miRNA)|AKR1D1_(morbid/RE=mTL_miRNA)|ALDH6A1_(morbid/RE=mTL_miRNA)|ALDOA_(morbid/RE=mTL_miRNA)|APC_(HI=3/morbid/RE=mTL_miRNA)|APTX_(morbid/RE=mTL_miRNA)|ARSK_(morbid/RE=mTL_miRNA)|ATL3_(morbid/RE=mTL_miRNA)|ATP13A3_(morbid/RE=mTL_miRNA)|ATP6V0A2_(morbid/RE=mTL_miRNA)|ATP6V1A_(morbid/RE=mTL_miRNA)|ATXN1_(morbid/RE=mTL_miRNA)|BACH1_(morbid/RE=mTL_miRNA)|BVES_(morbid/RE=mTL_miRNA)|C3_(morbid/RE=mTL_miRNA)|CAPN15_(morbid/RE=mTL_miRNA)|CASP10_(morbid/RE=mTL_miRNA)|CD3D_(morbid/RE=mTL_miRNA)|CDC73_(HI=3/morbid/RE=mTL_miRNA)|CDKN1B_(HI=3/morbid/RE=mTL_miRNA)|CHRNB1_(morbid/RE=mTL_miRNA)|CISD2_(morbid/RE=mTL_miRNA)|CITED2_(morbid/RE=mTL_miRNA)|CLEC7A_(morbid/RE=mTL_miRNA)|CLN8_(morbid/RE=mTL_miRNA)|COL18A1_(morbid/RE=mTL_miRNA)|COX20_(morbid/RE=mTL_miRNA)|COX6B1_(morbid/RE=mTL_miRNA)|CPE_(morbid/RE=mTL_miRNA)|CPT1A_(morbid/RE=mTL_miRNA)|CRIPT_(morbid/RE=mTL_miRNA)|CRTAP_(morbid/RE=mTL_miRNA)|CSNK1D_(morbid/RE=mTL_miRNA)|CTSB_(morbid/RE=mTL_miRNA)|CYCS_(morbid/RE=mTL_miRNA)|DARS2_(morbid/RE=mTL_miRNA)|DBR1_(morbid/RE=mTL_miRNA)|DNA2_(morbid/RE=mTL_miRNA)|DNAAF3_(morbid/RE=mTL_miRNA)|DNAJB13_(morbid/RE=mTL_miRNA)|DNAJC3_(morbid/RE=mTL_miRNA)|DSG3_(morbid/RE=mTL_miRNA)|EDARADD_(morbid/RE=mTL_miRNA)|EIF2S3_(morbid/RE=mTL_miRNA)|EIF4A2_(morbid/RE=mTL_miRNA)|ELP2_(morbid/RE=mTL_miRNA)|EMP2_(morbid/RE=mTL_miRNA)...;P_gain_source=dbVar:nssv15146175|nssv15148276|dbVar:nssv15146450|dbVar:nssv15147327|dbVar:nssv17955524|dbVar:nssv17976654;P_gain_coord=7:72766114-74133473|7:72766313-74133327|7:72766314-74042787|7:72766314-74133332|7:73944169-74138459;P_loss_phen=Cutis_laxa,_AD,_123700_(3)_AD|Supravalvar_aortic_stenosis,_185500_(3)_AD|Leber-like_hereditary_optic_neuropathy,_AR_1,_619382_(3)_AR|Spermatogenic_failure_77,_620103_(3)_AR,.,Spermatogenic_failure_77,_620103_(3)_AR,.,.,.,.,.,.,Leber-like_hereditary_optic_neuropathy,_AR_1,_619382_(3)_AR,.,.,.,.,.,.,.,.,.,Cutis_laxa,_AD,_123700_(3)_AD|Supravalvar_aortic_stenosis,_185500_(3)_AD,.,.,.,.,.,.,.,.,.,.;P_loss_source=HI3:ELN|dbVar:nssv15128343|dbVar:nssv15128578|dbVar:nssv15130113|dbVar:nssv15130169|dbVar:nssv15140244|dbVar:nssv15141480|dbVar:nssv15145649|nssv15146804|nssv15153080|dbVar:nssv15146451|dbVar:nssv15146687|dbVar:nssv15146708|dbVar:nssv15151951|nssv15605841|dbVar:nssv15167740|dbVar:nssv15770120|dbVar:nssv16208140|dbVar:nssv16213814|dbVar:nssv16214480|dbVar:nssv16214500|dbVar:nssv17172745|dbVar:nssv17172746|dbVar:nssv17955650|dbVar:nssv17971140|dbVar:nssv18786274|dbVar:nssv18791884|dbVar:nssv18791887|morbid:DNAJC30|morbid:ELN|morbid:FKBP6,.,morbid:FKBP6,.,.,.,.,.,.,morbid:DNAJC30,.,.,.,.,.,.,.,.,.,dbVar:nssv15128578|dbVar:nssv15770120|dbVar:nssv16214480|dbVar:nssv16214500|dbVar:nssv17172746|dbVar:nssv17971140|dbVar:nssv18786274|dbVar:nssv18791884|dbVar:nssv18791887|morbid:ELN,.,.,.,.,.,.,.,.,.,.;P_loss_coord=7:72726579-74139390|7:72742164-72772634|7:72766114-74133473|7:72766313-74133327|7:72766314-74133332|7:72772523-74133319|7:72996565-73597315|7:73023063-73524207|7:73095248-73097783|7:73150890-73604636|7:73187644-73501025|7:73442120-73484237|7:73442459-73483087|7:73442499-73442619|7:73442499-73483050|7:73442503-73484237|7:73442509-73483040|7:73442519-73449764|7:73442519-73483030|7:73444331-73476493|7:73449675-73483050|7:73461986-73483030|7:73470471-73498327|7:73471703-73483040|7:73482968-73483050|7:73482988-73484237|7:73791726-74133273,.,7:72742164-72772634,.,.,.,.,.,.,7:73095248-73097783,.,.,.,.,.,.,.,.,.,7:73442503-73484237|7:73442509-73483040|7:73442519-73449764|7:73442519-73483030|7:73444331-73476493|7:73449675-73483050|7:73461986-73483030|7:73471703-73483040|7:73482968-73483050|7:73482988-73484237,.,.,.,.,.,.,.,.,.,.;po_P_gain_phen=7q11.23_recurrent_(Williams-Beuren_syndrome)_region_(includes_ELN);po_P_gain_source=dbVar:nssv15777247|dbVar:nssv15168013|dbVar:nssv15161666|nssv15161679|dbVar:nssv15168014|dbVar:nssv15146013|dbVar:nssv15146778|dbVar:nssv15147714|dbVar:nssv15147012|dbVar:nssv15147013|dbVar:nssv15755212|dbVar:nssv15147334|dbVar:nssv15151509|dbVar:nssv15154519|dbVar:nssv15152109|dbVar:nssv15153678|dbVar:nssv15148173|dbVar:nssv15149887|dbVar:nssv15147399|dbVar:nssv15148904|dbVar:nssv15174166|dbVar:nssv15128409|dbVar:nssv15150793|dbVar:nssv16254014|dbVar:nssv15148877|dbVar:nssv18830985|dbVar:nssv15147014|dbVar:nssv15149513|dbVar:nssv15146773|dbVar:nssv15151227|dbVar:nssv15147017|dbVar:nssv15146395|dbVar:nssv15147458|dbVar:nssv15126184|dbVar:nssv17976854|dbVar:nssv15150228|dbVar:nssv15147556|dbVar:nssv15146449|dbVar:nssv15151508|dbVar:nssv15150733|dbVar:nssv15154518|dbVar:nssv17955880|dbVar:nssv18830970|dbVar:nssv15146933|dbVar:nssv16215249|dbVar:nssv15167739|TS3:ISCA-37392|dbVar:nssv15148970;po_P_gain_coord=7:10366-159119707|7:10705-159122532|7:43362-159119707|7:44936-159126310|7:62437464-75044630|7:71644078-78793387|7:71968213-74133332|7:72196406-74991125|7:72233836-74285345|7:72364527-73780265|7:72408603-74193374|7:72576873-74175429|7:72577022-74147166|7:72577022-74197846|7:72577022-74859638|7:72589516-74154603|7:72589516-74165401|7:72606410-74193403|7:72606410-74300084|7:72606451-74153206|7:72650008-74188572|7:72659675-74143240|7:72659675-74164894|7:72663963-74193403|7:72664462-74162586|7:72665463-74139573|7:72677174-74143140|7:72677302-74143060|7:72677302-74143240|7:72679398-74139573|7:72683245-74267189|7:72685735-74142327|7:72685764-74189674|7:72686959-74155067|7:72692113-74154497|7:72700128-74146858|7:72700415-74139573|7:72700525-74069858|7:72700525-74142256|7:72701019-74143240|7:72717346-74133310|7:72718278-74142256|7:72718279-74140708|7:72722982-74141840|7:72743984-74145064|7:72744456-74142510|7:72766314-74481540;po_P_gain_percent=0.89|0.89|0.89|0.89|11.21|19.76|64.97|50.55|68.87|74.43|79.16|88.38|89.98|87.17|61.89|90.27|89.65|89.02|83.42|91.34|91.83|95.23|93.86|92.37|94.31|95.84|96.37|96.39|96.38|96.76|89.20|96.99|93.94|96.23|96.61|97.66|98.17|98.10|97.99|97.96|99.35|99.22|99.32|99.57|99.60|99.78|80.05;po_P_loss_phen=7q11.23_recurrent_(Williams-Beuren_syndrome)_region_(includes_ELN);po_P_loss_source=dbVar:nssv15161318|dbVar:nssv15148211|dbVar:nssv15147057|dbVar:nssv15147200|dbVar:nssv16255682|dbVar:nssv15146320|dbVar:nssv15146676|dbVar:nssv16867365|dbVar:nssv15167734|dbVar:nssv15146211|dbVar:nssv16254015|dbVar:nssv15151112|dbVar:nssv15145801|dbVar:nssv15152099|dbVar:nssv17977008|dbVar:nssv15151511|dbVar:nssv17977009|dbVar:nssv15145887|dbVar:nssv15147427|dbVar:nssv15153677|dbVar:nssv15154521|dbVar:nssv16208139|dbVar:nssv15145827|dbVar:nssv15148206|dbVar:nssv15151289|dbVar:nssv18330757|dbVar:nssv15125131|dbVar:nssv17977011|dbVar:nssv15167735|dbVar:nssv15148192|dbVar:nssv15167736|dbVar:nssv15168977|dbVar:nssv18330770|dbVar:nssv16215159|dbVar:nssv15129678|dbVar:nssv15147158|dbVar:nssv15606134|dbVar:nssv15145898|dbVar:nssv15151092|dbVar:nssv15755220|dbVar:nssv17977017|dbVar:nssv15147160|dbVar:nssv15147159|dbVar:nssv15145802|dbVar:nssv15147457|dbVar:nssv15148226|dbVar:nssv15147515|dbVar:nssv15147502|dbVar:nssv15148195|dbVar:nssv15147550|dbVar:nssv17977015|dbVar:nssv15605840|dbVar:nssv17977014|dbVar:nssv15149859|dbVar:nssv17977016|dbVar:nssv15150016|dbVar:nssv15146951|dbVar:nssv16297072|dbVar:nssv18830737|dbVar:nssv15154517|nssv17977012|dbVar:nssv17977007|dbVar:nssv15146637|dbVar:nssv15149107|dbVar:nssv15150231|dbVar:nssv15150699|dbVar:nssv15150637|dbVar:nssv15151346|dbVar:nssv15148257|nssv17977121|dbVar:nssv15150643|dbVar:nssv15149860|dbVar:nssv15151090|dbVar:nssv18329614|dbVar:nssv18330419|dbVar:nssv18330223|dbVar:nssv15167737|dbVar:nssv15605774|dbVar:nssv8640006|dbVar:nssv15167738|dbVar:nssv15147726|dbVar:nssv15755221|HI3:ISCA-37392|dbVar:nssv15605838|dbVar:nssv15605839|dbVar:nssv15147324|dbVar:nssv15147329|dbVar:nssv15145670|dbVar:nssv15145679|nssv15146800|dbVar:nssv15146612|dbVar:nssv17977013|dbVar:nssv15124428|dbVar:nssv15776001|dbVar:nssv15120782|dbVar:nssv15148954|dbVar:nssv15147202;po_P_loss_coord=7:54186-159075079|7:62196743-75061986|7:68133295-72806397|7:68847340-77453149|7:68977231-73939510|7:70690331-81364973|7:70926113-72806397|7:71847969-73391310|7:72305672-74196360|7:72401087-74285345|7:72403118-76709600|7:72456605-76007380|7:72507130-74142327|7:72536981-74629034|7:72589196-74225562|7:72589516-74386749|7:72589516-74629034|7:72606410-74193403|7:72606410-74285345|7:72608515-74386749|7:72612043-74574641|7:72621723-76007380|7:72636007-74339014|7:72637825-74203685|7:72643632-74142190|7:72643633-74143060|7:72644632-74144422|7:72645014-74142190|7:72650107-74138603|7:72650121-74142256|7:72650266-74138603|7:72653307-74134911|7:72654783-74142190|7:72657229-74160300|7:72677238-74144422|7:72681398-74137354|7:72682339-74141250|7:72685735-74142327|7:72691243-74142190|7:72699383-74142329|7:72700128-74142190|7:72700415-74122179|7:72700415-74137354|7:72700415-74139573|7:72700415-74142327|7:72700415-74172913|7:72700415-74193403|7:72700415-74285345|7:72700511-74142190|7:72700525-74141494|7:72700943-74142190|7:72700997-74142190|7:72700997-74142256|7:72701019-74141493|7:72701085-74142190|7:72708238-74133273|7:72708238-74339044|7:72717370-74142224|7:72717396-74173168|7:72718124-74141784|7:72718124-74142190|7:72718253-74133273|7:72718253-74133332|7:72718278-73898515|7:72718278-74141494|7:72718278-74141603|7:72718278-74141746|7:72718278-74142190|7:72718278-74146858|7:72718278-74259899|7:72718278-74287433|7:72718279-74142256|7:72718279-74143060|7:72718279-74143240|7:72719387-74218536|7:72721450-73959106|7:72722982-74141840|7:72722982-74200092|7:72722982-74217390|7:72726591-74142329|7:72744456-74142510|7:72744495-74339044|7:72744495-76038818|7:72766313-74193397|7:72766313-74339030|7:72766314-74285345|7:72766314-74339044|7:72766314-76351578|7:72921551-74145628|7:73591994-75914797|7:73799887-75388031|7:73992745-74991125|7:73992745-81661058|7:73992745-83618176;po_P_loss_percent=0.89|10.98|1.71|16.42|24.44|13.24|4.25|43.07|74.72|74.98|32.81|39.79|86.40|67.53|86.34|78.61|69.27|89.02|84.15|79.45|71.99|41.73|82.96|90.23|94.28|94.22|94.20|94.37|94.86|94.68|94.87|95.05|94.98|93.99|96.29|96.90|96.84|96.99|97.37|97.91|97.97|98.16|98.18|98.17|97.98|95.95|94.63|89.14|98.00|98.05|98.03|98.03|98.03|98.08|98.04|98.71|86.63|99.15|97.05|99.24|99.21|99.41|99.41|99.30|99.27|99.26|99.25|99.22|98.90|91.64|90.04|99.22|99.16|99.15|94.24|99.59|99.57|95.65|94.54|99.79|99.78|87.48|42.34|96.22|87.31|90.39|87.31|38.30|99.49|23.57|21.38|14.69|1.91|1.52;P_snvindel_nb=104,.,1,.,.,.,.,.,.,1,.,1,.,.,.,.,.,.,.,101,.,.,.,.,.,.,.,.,.,.;P_snvindel_phen=Autism|Cutis_laxa,_autosomal_dominant_1|DNAJC30-associated_disorder|ELN-related_condition|Inborn_genetic_diseases|Intellectual_disability|Leber_hereditary_optic_neuropathy,_autosomal_recessive|Leber_optic_atrophy,_susceptibility_to|Male_infertility|Spermatogenic_failure_77|Supravalvar_aortic_stenosis|Williams_syndrome,.,Male_infertility|Spermatogenic_failure_77,.,.,.,.,.,.,DNAJC30-associated_disorder|Leber_hereditary_optic_neuropathy,_autosomal_recessive|Leber_optic_atrophy,_susceptibility_to,.,Autism|Intellectual_disability,.,.,.,.,.,.,.,Cutis_laxa,_autosomal_dominant_1|ELN-related_condition|Inborn_genetic_diseases|Supravalvar_aortic_stenosis|Williams_syndrome,.,.,.,.,.,.,.,.,.,.;B_gain_source=.,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar;B_gain_coord=.,chr7:72708999-74058000|chr7:72719000-72789000,chr7:72708999-74058000|chr7:72719000-72789000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000,chr7:72708999-74058000|chr7:74008364-74140675,chr7:74008364-74140675,chr7:74008364-74140675;B_gain_AFmax=.,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01;B_loss_source=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,dbVar,.,.,.,.,.,dbVar,dbVar,dbVar,dbVar,.,.,.,.,.;B_loss_coord=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,chr7:73157999-73206000,.,.,.,.,.,chr7:73504792-73813060,chr7:73504792-73813060,chr7:73504792-73813060,chr7:73504792-73813060,.,.,.,.,.;B_loss_AFmax=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0.01,.,.,.,.,.,0.01,0.01,0.01,0.01,.,.,.,.,.;B_inv_source=IMH;B_inv_coord=7:66631329-143298938|7:67635774-98083201;B_inv_AFmax=0.5;po_B_gain_someG_source=chr7:72708999-74058000_dbVar|chr7:72726800-72740359_dbVar|chr7:72745614-72754503_dbVar|chr7:72774000-72782000_dbVar|chr7:72787000-72831100_dbVar|chr7:72816500-72830000_dbVar|chr7:72998471-72999058_dbVar|chr7:73055007-73067523_dbVar|chr7:73197500-73235415_dbVar|chr7:73225900-73232279_dbVar|chr7:73276238-73276581_dbVar|chr7:73299213-73301668_dbVar|chr7:73393992-73394499_dbVar|chr7:73499000-73506000_dbVar|chr7:73546829-73546880_dbVar|chr7:73583293-73584013_dbVar|chr7:73658948-73659640_dbVar|chr7:73674630-73681367_dbVar|chr7:73787553-73825589_dbVar|chr7:73831000-73836000_dbVar...;po_B_gain_someG_coord=chr7:72400589-72727075_dbVar|chr7:72719000-72789000_dbVar|chr7:72729000-72748000_dbVar|chr7:72767887-72767960_dbVar|chr7:72783612-72807457_dbVar|chr7:72811900-72819000_dbVar|chr7:72970000-72975000_dbVar|chr7:73014621-73015093_dbVar|chr7:73056768-73064674_dbVar|chr7:73220636-73223168_dbVar|chr7:73267370-73271012_dbVar|chr7:73283850-73286300_dbVar|chr7:73331000-73347000_dbVar|chr7:73432596-73433429_dbVar|chr7:73542648-73543250_dbVar|chr7:73581149-73582488_dbVar|chr7:73628409-73628785_dbVar|chr7:73660000-73666300_dbVar|chr7:73686041-73691825_dbVar|chr7:73815308-73815574_dbVar...;po_B_loss_someG_source=chr7:72788610-72788928_dbVar|chr7:72792927-72794734_dbVar|chr7:72807457-72811747_dbVar|chr7:72809374-72811765_dbVar|chr7:72831507-72833102_dbVar|chr7:72831655-72833172_dbVar|7:72859067-72859930_DDD:24502|chr7:72859126-72859948_dbVar|chr7:72958486-72958582_dbVar|chr7:72976072-72983729_dbVar|chr7:73003322-73003446_dbVar|chr7:73047101-73047474_dbVar|chr7:73062999-73081000_dbVar|chr7:73072977-73073093_dbVar|chr7:73106347-73106427_dbVar|chr7:73157999-73206000_dbVar|chr7:73190196-73190548_dbVar|chr7:73196830-73198271_dbVar|chr7:73211482-73211654_dbVar|chr7:73223050-73223264_dbVar...;po_B_loss_someG_coord=chr7:72783921-72784587_dbVar|chr7:72790491-72790586_dbVar|chr7:72806431-72813279_dbVar|chr7:72809373-72811754_dbVar|7:72809386-72811787_DDD:24500|7:72831554-72833141_DDD:24501|chr7:72850871-72854146_dbVar|chr7:72859093-72859952_dbVar|chr7:72955017-72955274_dbVar|chr7:72962422-72963182_dbVar|chr7:73002815-73002896_dbVar|chr7:73023279-73023954_dbVar|chr7:73054513-73055107_dbVar|chr7:73065479-73067124_dbVar|chr7:73090809-73093167_dbVar|chr7:73146454-73146754_dbVar|chr7:73173329-73173399_dbVar|chr7:73196779-73198220_dbVar|chr7:73211482-73211632_dbVar|chr7:73222000-73236000_dbVar...;Cosmic_ID=877501|108118|324755|325086|500342|500863|500908|302773|303106|303125|484486|484953|484961|484998|485028|554297|554388|554400|554408|554410|554411|554412|652674|513717|232773|232999|491805|491889|491904|622919|622936|79946|80091|80098|80110|1189277|1371704|2784756|838538|280114|281928|282158|844585|730219|575489|575912|575922|575950|576011|576029|477922|...,.,.,.,529378,.,.,730221|733450|733479|776773,.,.,.,.,.,.,.,.,.,776775,.,.,596146|596546,520421|520564|521476,.,.,.,730235|1376904|311922|312170,287214|409861|257633|257740|257750|280118|596149|596444|598757|291764|291839|291840|730239,.,529379|525619|534294|538338|776782|778027|776783|777959|777979|777991,776783|777959|777979|777991;Cosmic_mut_typ=gain|loss,.,.,.,loss,.,.,loss,.,.,.,.,.,.,.,.,.,loss,.,.,loss,loss|gain,.,.,.,loss|gain,gain|loss,.,loss|gain,loss;GC_content_left=0.37;GC_content_right=0.355;Repeat_coord_left=7:72726181-72726486;Repeat_type_left=AluSz;SegDup_left=7:72700438-72744454|7:72700443-72744454;HI=3,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,3,0,.,.,.,.,.,0,.,0,.;TS=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,0,.,.,.,.,.,0,.,0,.;DDD_HI_percent=88.46,55.55,65.69,46.95,23.74,28.63,30.81,36.45,64.11,80.16,.,22.82,.,.,76.55,33.46,23.72,.,.,8.62,19.66,21.78,.,88.46,14.42,47.98,47.51,.,33.5,.;ExAC_delZ=1.77201404347458,.,.,0.247827425263201,1.02239565516008,1.05583278690403,-0.199291215312469,0.942636989769333,.,0.717396479665947,.,0.950800964625408,.,.,0.643446275430498,0.332553044404404,0.563064431580096,.,.,0.1188507761401,0.623604739936053,0.339580839486745,.,0.592710857132059,0.200864992787726,1.014608801418,1.77201404347458,.,.,.;ExAC_dupZ=0.0159631069818757,.,.,-1.18776035129969,0.0159631069818757,-0.553040364632404,-0.922199212243606,-0.774220086661663,.,-0.500797326082256,.,-0.794674734358171,.,.,-0.675433866559718,-0.966715148489597,-0.809178554455325,.,.,-1.61408470478924,-0.79212126645541,-0.49261121282204,.,-0.653878691847743,-0.430045328414053,-0.895566510532316,-0.0325005901648791,.,.,.;ExAC_cnvZ=0.491444562429841,.,.,-0.895389454591556,0.395552906953086,-0.0819162539430506,-0.751016280020485,-0.327638361779731,.,-0.15204008716984,.,-0.324619004824717,.,.,-0.327510119466819,-0.688425296234703,-0.46244511082827,.,.,-1.04153334326364,-0.396805714672051,-0.247951312124761,.,-0.292110083865967,-0.225638310792768,-0.401705936344982,0.491444562429841,.,.,.;ExAC_synZ=2.70903614483931,0.317380023327075,1.49986407027643,.,-0.902054979760057,-0.44503506022657,0.200201742907301,0.58127606528246,-0.0288746954043306,1.08623431117684,.,1.10438995088098,.,.,1.09331776236833,2.70903614483931,-0.0167724140747313,.,.,-0.09395744769762,-0.48782967368913,-0.250271670703448,.,0.385787155434006,-0.430513909559958,-0.746648021563001,0.977775575032158,.,0.964550444182401,.;ExAC_misZ=4.23220859072885,0.681275321847818,1.4396607305099,.,4.05717005254254,1.74981493260157,0.554223709974506,1.2288879277127,0.953055172354045,1.71697083676563,.,3.33806479625907,.,.,0.473373375061211,1.92914089110849,0.933080799622852,.,.,-0.0129976080826519,2.85746490313868,3.27930650064444,.,-0.303087706786894,1.53581142075512,2.45305749434808,2.53365459317235,.,4.23220859072885,.;GenCC_disease=.,.,spermatogenic_failure_77,.,autism_spectrum_disorder,.,.,.,.,Leber_hereditary_optic_neuropathy|Leber_hereditary_optic_neuropathy,_autosomal_recessive,.,.,.,.,.,.,.,.,.,autosomal_dominant_cutis_laxa|cutis_laxa,_autosomal_dominant_1|supravalvular_aortic_stenosis,.,.,.,.,.,.,.,.,.,.;GenCC_moi=.,.,AR,.,AD,.,.,.,.,AR|MT,.,.,.,.,.,.,.,.,.,AD,.,.,.,.,.,.,.,.,.,.;GenCC_classification=.,.,Moderate,.,Limited,.,.,.,.,Limited|Strong|Supportive,.,.,.,.,.,.,.,.,.,Definitive|Strong|Supportive,.,.,.,.,.,.,.,.,.,.;GenCC_pmid=.,.,.,.,.,.,.,.,.,33465056|33465056[PMID],.,.,.,.,.,.,.,.,.,10190324|10190538|10942104[PMID]_19844261[PMID]|11175284|11735026|16085695[PMID]_18348261[PMID]|18348261|19844261|21309044|23442826|27866049|28383366|31560829|8132745|8364568|8541862|9215670|9215671,.,.,.,.,.,.,.,.,.,.;NCBI_gene_ID=.,135892,8468,8326,9031,9275,26608,51085,155382,84277,114049,6804,100422948,171022,83451,1365,1364,155368,135886,2006,3984,7458,693175,7462,5982,7461,9569,113218504,2969,101926943;OMIM_ID=604839|618202|130160,.,604839,.,.,.,.,.,.,618202,.,.,.,.,.,.,.,.,.,130160,.,.,.,.,.,.,.,.,.,.;OMIM_phenotype=.,.,Spermatogenic_failure_77,_620103_(3)_AR,.,.,.,.,.,.,Leber-like_hereditary_optic_neuropathy,_AR_1,_619382_(3)_AR,.,.,.,.,.,.,.,.,.,Cutis_laxa,_AD,_123700_(3)_AD|Supravalvar_aortic_stenosis,_185500_(3)_AD,.,.,.,.,.,.,.,.,.,.;OMIM_inheritance=.,.,AR,.,.,.,.,.,.,AR,.,.,.,.,.,.,.,.,.,AD,.,.,.,.,.,.,.,.,.,.;OMIM_morbid=yes,.,yes,.,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.;LOEUF_bin=0,7,5,4,0,3,4,2,1,7,.,1,.,.,5,4,9,.,.,4,0,2,.,4,5,0,1,.,1,.;GnomAD_pLI=1,1.5479e-10,1.3955e-06,0.0019309,1,0.18519,0.00018452,0.047771,0.91622,0.023092,.,0.9785,.,.,0.0029581,0.52233,6.9789e-05,.,.,2.1429e-14,0.99937,0.43982,.,0.00022295,2.2054e-06,0.99997,0.90039,.,0.99592,.;ExAC_pLI=1,2.7256e-06,0.1306,.,1,0.70664,0.0043765,0.67682,0.65635,0.0047983,.,0.91048,.,.,9.0329e-06,0.67854,0.00013716,.,.,1.52e-05,0.9909,0.92254,.,0.00069106,4.0421e-05,0.99988,0.99643,.,0.99935,.;AnnotSV_ranking_score=1.45;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2A_(cf_P_loss_source,_+1.00)|3B_(29_genes,_+0.45)|5F_(+0.00);ACMG_class=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5;END=74139390;SVLEN=-1412811 GT 1/. 8 7169491 . G . PASS AnnotSV_ID=8_7169491_7753583_DEL_1;SV_start=7169491;Biologist_ranking=Benign;Annotation_mode=full,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split;CytoBand=p23.1;Gene_name=FAM66B|DEFB109B|USP17L1|USP17L4|ZNF705G|DEFB4B|DEFB103B|SPAG11B|DEFB104B|DEFB106B|DEFB105B|DEFB107B|PRR23D1|FAM90A7|FAM90A22|FAM90A23|FAM90A14|FAM90A18|FAM90A16|FAM90A8|FAM90A17|FAM90A19|FAM90A9|FAM90A10|PRR23D2|DEFB107A|DEFB105A|DEFB106A|DEFB104A|SPAG11A|DEFB103A|DEFB4A,FAM66B,DEFB109B,USP17L1,USP17L4,ZNF705G,DEFB4B,DEFB103B,SPAG11B,DEFB104B,DEFB106B,DEFB105B,DEFB107B,PRR23D1,FAM90A7,FAM90A22,FAM90A23,FAM90A14,FAM90A18,FAM90A16,FAM90A8,FAM90A17,FAM90A19,FAM90A9,FAM90A10,PRR23D2,DEFB107A,DEFB105A,DEFB106A,DEFB104A,SPAG11A,DEFB103A,DEFB4A;Closest_left=LINC00965;Closest_right=ZNF705B;Gene_count=32;Tx=.,NR_027423,NM_001037380,NM_001256873,NM_001256874,NM_001164457,NM_001205266,NM_018661,NM_058201,NM_001040702,NM_001040704,NM_001040703,NM_001040705,NM_001282479,NM_001397387,NM_001397382,NM_001397380,NM_001164452,NM_001164451,NM_001397396,NM_001164450,NM_001397391,NM_001164449,NM_001164448,NM_001164447,NM_001282478,NM_001037668,NM_152250,NM_152251,NM_080389,NM_001395484,NM_001081551,NM_004942;Tx_version=.,2,2,1,1,3,2,4,4,1,2,3,2,1,1,1,1,1,1,1,1,1,1,1,1,1,1,3,4,3,1,4,4;Tx_start=.,7156265,7170243,7189908,7194636,7213038,7272376,7286409,7308124,7327829,7340025,7345200,7353432,7397148,7414221,7429516,7437165,7572964,7580612,7588260,7595908,7603555,7611203,7618851,7626498,7636112,7669241,7678525,7682660,7693957,7705529,7738913,7752198;Tx_end=.,7212885,7177618,7191501,7196229,7243080,7274385,7287870,7321064,7332604,7343922,7347115,7366833,7399972,7417234,7432528,7440175,7575975,7583623,7591271,7598918,7606566,7614214,7621862,7629510,7638935,7673238,7681402,7686575,7698764,7718465,7740185,7754238;Overlapped_tx_length=.,43395,7375,1593,1593,30042,2009,1461,12940,4775,3897,1915,13401,2824,3013,3012,3010,3011,3011,3011,3010,3011,3011,3011,3012,2823,3997,2877,3915,4807,12936,1272,1385;Overlapped_CDS_length=.,0,264,1593,1593,903,195,204,402,219,198,237,213,840,1395,1395,1395,1395,1395,1395,1395,1395,1395,1395,1395,840,213,237,198,219,402,204,58;Overlapped_CDS_percent=.,0,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,29;Frameshift=.,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,yes;Exon_count=.,7,2,1,1,7,2,2,3,2,2,3,2,4,4,4,4,4,4,4,4,4,4,4,4,4,2,3,2,2,3,2,2;Location=.,txStart-intron6,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-intron1;Location2=.,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-CDS;Dist_nearest_SS=.,9797,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,412;Nearest_SS_type=.,3',.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,3';Intersect_start=.,7169490,7170243,7189908,7194636,7213038,7272376,7286409,7308124,7327829,7340025,7345200,7353432,7397148,7414221,7429516,7437165,7572964,7580612,7588260,7595908,7603555,7611203,7618851,7626498,7636112,7669241,7678525,7682660,7693957,7705529,7738913,7752198;Intersect_end=.,7212885,7177618,7191501,7196229,7243080,7274385,7287870,7321064,7332604,7343922,7347115,7366833,7399972,7417234,7432528,7440175,7575975,7583623,7591271,7598918,7606566,7614214,7621862,7629510,7638935,7673238,7681402,7686575,7698764,7718465,7740185,7753583;RE_gene=MCPH1_(morbid/RE=ABC_enhancer+GH_promoter_enhancer);po_P_gain_source=dbVar:nssv15169207|dbVar:nssv15128680|dbVar:nssv15161508|dbVar:nssv15161747|dbVar:nssv17976867|dbVar:nssv17957391|dbVar:nssv15154583|dbVar:nssv15161801|nssv15777239|nssv17976962|dbVar:nssv15154584|dbVar:nssv16206921|dbVar:nssv15154580|dbVar:nssv15161417|nssv15161657|dbVar:nssv15147671|dbVar:nssv15161846|dbVar:nssv15150473|dbVar:nssv15127651|dbVar:nssv15149098|dbVar:nssv15169210|dbVar:nssv15154582|dbVar:nssv15146537|dbVar:nssv15161807|dbVar:nssv15161553|dbVar:nssv15161105|dbVar:nssv15161095|dbVar:nssv15161561|dbVar:nssv15161078|dbVar:nssv15147455|dbVar:nssv16736635|dbVar:nssv15161269|dbVar:nssv15161748|dbVar:nssv15161749|dbVar:nssv15143576|dbVar:nssv15161775|dbVar:nssv15146180|dbVar:nssv15161087|dbVar:nssv15161068|dbVar:nssv15161792|dbVar:nssv15606063|dbVar:nssv15151542|dbVar:nssv15161084|dbVar:nssv16206931|dbVar:nssv15154577|dbVar:nssv15161089|dbVar:nssv15151538|dbVar:nssv15152254|dbVar:nssv18842054|dbVar:nssv15161540|dbVar:nssv15161727|dbVar:nssv15161764;po_P_gain_coord=8:10214-146293414|8:13939-146304022|8:46311-11879315|8:46311-30472220|8:158049-10348413|8:158049-11936107|8:158049-13974319|8:158049-146295771|8:158049-15423270|8:158049-8102819|8:158049-9750676|8:158050-146295771|8:158992-13304906|8:158992-146280828|8:158992-17536147|8:163683-46938942|8:164985-11860845|8:164985-146293414|8:168484-13147575|8:169854-10022996|8:176453-12556063|8:176453-12570496|8:176453-146294098|8:176453-16137655|8:176453-34349408|8:176453-37879246|8:176453-7838959|8:176815-43396776|8:191531-146274835|8:191531-146280020|8:191531-17536206|8:191531-22404983|8:191531-23055911|8:191531-7752586|8:191606-146280167|8:191606-24514484|8:191606-30948590|8:194618-13947374|8:1825201-24533193|8:6961184-12157391|8:6999220-11895232|8:6999220-11898980|8:6999220-38553064|8:6999220-8881836|8:7053187-11805960|8:7080282-12045269|8:7169491-12404062|8:7268820-12039974|8:7691902-12039974;po_P_gain_percent=0.40|0.40|4.94|1.92|5.73|4.96|4.23|0.40|3.83|7.35|6.09|0.40|4.44|0.40|3.36|1.25|4.99|0.40|4.50|5.93|4.72|4.71|0.40|3.66|1.71|1.55|7.62|1.35|0.40|0.40|3.37|2.63|2.55|7.71|0.40|2.40|1.90|4.25|2.57|11.24|11.93|11.92|1.85|31.03|12.29|11.76|11.16|10.16|1.42;po_P_loss_source=dbVar:nssv15168702|dbVar:nssv15169206|dbVar:nssv18842057|dbVar:nssv17956019|dbVar:nssv15154581|dbVar:nssv18326425|dbVar:nssv15149861|dbVar:nssv15775686|dbVar:nssv17976739|dbVar:nssv16208166|dbVar:nssv15774257|dbVar:nssv15149509|dbVar:nssv18330306|dbVar:nssv18329623|dbVar:nssv16216869|dbVar:nssv15169209|dbVar:nssv15223191|dbVar:nssv15147275|dbVar:nssv15148964|dbVar:nssv15147296|dbVar:nssv15146181|nssv15146816|dbVar:nssv15606064|dbVar:nssv15146660|dbVar:nssv18841910|dbVar:nssv15161264|nssv15161582|dbVar:nssv15145917|dbVar:nssv15161283|dbVar:nssv15161284|dbVar:nssv15161070|dbVar:nssv15141976|dbVar:nssv15161050;po_P_loss_coord=8:10214-10197718|8:10214-8948469|8:10502-11142629|8:10502-7214947|8:158049-10939681|8:158049-11281408|8:158049-13309069|8:158049-14214722|8:158049-30187456|8:158049-9025197|8:158049-9393052|8:158049-9749574|8:158050-10965627|8:158050-18936715|8:161517-11516619|8:164985-10007227|8:176815-7753583|8:191531-10049105|8:191531-10315994|8:191531-10724642|8:191531-7752586|8:194618-7787444|8:360370-7334625|8:399894-23712417|8:2292236-27361796|8:3791728-11384448|8:7053187-12241152|8:7092360-12372324|8:7169491-12404062|8:7268820-11805960|8:7268820-11819316;po_P_loss_percent=5.73|6.53|5.25|0.63|5.42|5.25|4.44|4.16|1.95|6.59|6.32|6.09|5.40|3.11|5.14|5.93|7.71|5.93|5.77|5.55|7.71|7.69|2.37|2.51|2.33|7.69|11.26|11.06|11.16|10.68|10.65;B_gain_source=DDD:26674|TS40:ISCA-37472|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|TS40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|TS40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|TS40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|TS40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26720|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26720|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26720|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|DDD:26742|DDD:26743|TS40:ISCA-37472|TS40:ISCA-46381|dbVar|dgv6936n100|esv2761169|esv2764098|gnomAD-SV_v2.1_DUP_8_23708,DDD:26674|DDD:26727|DDD:26729|DDD:26742|DDD:26743|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098;B_gain_coord=8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|8:7154889-7213289|chr8:7159226-7474073,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|8:7154889-7213289|chr8:7159226-7187516|chr8:7159226-7201223|chr8:7159226-7474073,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|8:7154889-7213289|chr8:7159226-7201223|chr8:7159226-7474073|chr8:7187516-7201223,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|8:7154889-7213289|chr8:7159226-7201223|chr8:7159226-7474073|chr8:7187516-7201223,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|chr8:7206400-7253000,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7241528-7403182|8:7250369-7832042|chr8:7365000-7404400,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7250369-7832042|8:7401394-7472190|chr8:7403133-7474073|chr8:7404000-7437650,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|chr8:7159226-7474073|8:7250369-7832042|8:7401394-7472190|chr8:7403133-7474073|chr8:7404000-7437650|chr8:7424800-7474000,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|chr8:7159226-7474073|8:7250369-7832042|8:7401394-7472190|chr8:7403133-7474073|chr8:7424800-7474000,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700|chr8:7608000-7649500,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700|chr8:7608000-7649500,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7608000-7649500,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7608000-7649500|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839|8:7718891-7784263|8:7734213-7856702|8:7737000-7743100|chr8:7737000-7743100|8:7737000-7743100,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839|8:7718891-7784263|8:7734213-7856702;B_gain_AFmax=0.2355;B_loss_source=DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|DDD:26683|HI40:ISCA-37472|dbVar|esv2675221|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|DDD:26687|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|DDD:26720|HI40:ISCA-37472|dbVar|esv2761169|esv2764098|gnomAD-SV_v2.1_DEL_8_89341|gnomAD-SV_v2.1_DEL_8_89342,DDD:26674|DDD:26720|HI40:ISCA-37472|dbVar|esv2761169|esv2764098|gnomAD-SV_v2.1_DEL_8_89342,DDD:26674|DDD:26720|HI40:ISCA-37472|dbVar|esv2761169|esv2764098|gnomAD-SV_v2.1_DEL_8_89342,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|HI40:ISCA-46380|dbVar|esv2761169|esv2764098|gnomAD-SV_v2.1_DEL_8_89353,DDD:26674|DDD:26727|HI40:ISCA-37472|HI40:ISCA-46380|HI40:ISCA-46382|dbVar|esv2761169|esv2764098|gnomAD-SV_v2.1_DEL_8_89353|gnomAD-SV_v2.1_DEL_8_89355;B_loss_coord=8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689,8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934|8:7154889-7213289,8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934|8:7154889-7213289|8:7158046-7189992|8:7158202-7189800,8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934|8:7154889-7213289,8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934|8:7154889-7213289|8:7190892-7196288,8:6858816-8072303|8:6959834-8600711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eG_coord=8:6858816-8072303_esv2761169|8:6985776-7230992_DDD:26670|8:7035907-7428513_DDD:26675|chr8:7085462-7537934_dbVar|8:7158046-7189992_esv2675221|chr8:7175745-7175870_dbVar|8:7179583-7191032_1000g|chr8:7180382-7180743_dbVar|8:7190892-7196288_DDD:26687|8:7201000-7206400_gnomAD-SV_v2.1_DEL_8_89332|chr8:7212582-7227421_dbVar|8:7212583-7227421_esv3616116|chr8:7228000-7235000_dbVar|chr8:7276552-7277128_dbVar|8:7308244-7308706_DDD:26704|chr8:7355000-7363000_dbVar|chr8:7355293-7364762_dbVar|8:7355294-7364762_esv3616120|chr8:7402900-7419700_dbVar|chr8:7405950-7443050_dbVar...;Cosmic_ID=674618|1021421|1021422|646653|1520679|1915732|3052323|2599287|832406|665154|653853|679166|678976|663306|700319|654990|679312|646920|863772|653647|649616|671308|658988|675704|1023557|678564|857770|745967|654991|676140|783310|824013|870858|820152|834536|871873|875246|654992|701040|665155|745968|682446|745969|702113|890458|732002|921361|909011|880183|1018294|925302|...,.,.,.,.,1023557|745967|654991|676140|745968|732002,.,.,.,.,.,.,603719|849088|921364,.,.,.,.,.,.,.,.,.,.,.,.,.,682133,.,.,.,.,.,.;Cosmic_mut_typ=loss|gain,.,.,.,.,loss|gain,.,.,.,.,.,.,gain,.,.,.,.,.,.,.,.,.,.,.,.,.,gain,.,.,.,.,.,.;GC_content_left=0.26;GC_content_right=0.33;SegDup_left=8:7150797-7184572|8:7150797-7195814|8:7150797-7200543|8:7150798-7238459;SegDup_right=8:7600001-7825413;ENCODE_blacklist_left=8:7012601-8066200;ENCODE_blacklist_characteristics_left=High_Signal_Region;ENCODE_blacklist_right=8:7012601-8066200;ENCODE_blacklist_characteristics_right=High_Signal_Region;DDD_HI_percent=99.72,.,.,.,.,91.1,99.72,85.97,89.4,95.66,93.29,90.95,91.71,.,.,.,.,.,.,.,.,.,.,.,.,.,92.48,90.61,90.45,96.98,97.15,93.4,97.87;ExAC_synZ=2.14121257165536,.,.,.,.,-1.59751875296103,.,.,2.14121257165536,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0.918523398770926,0.676417083229402,1.33624136747443,0.140072348156658,.,1.12959151611996;ExAC_misZ=2.19863945242443,.,.,.,.,-3.97736276921453,.,.,1.8677219993927,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0.008093353918723,1.6332400949348,2.19863945242443,0.903069021299127,.,0.758429673080804;NCBI_gene_ID=.,100128890,641517,401447,645402,100131980,100289462,55894,10407,503618,503841,504180,503614,100131608,441317,645558,645572,645651,441326,441323,441324,728746,728753,441327,441328,100133251,245910,245908,245909,140596,653423,414325,1673;LOEUF_bin=8,.,.,.,.,9,9,.,9,9,9,9,.,8,.,.,.,.,.,.,.,.,.,.,.,.,9,8,9,9,9,.,9;GnomAD_pLI=0.4218,.,.,.,.,1.6471e-08,0.067977,.,0.027751,0.33176,0.081151,0.29184,.,0.4218,.,.,.,.,.,.,.,.,.,.,.,.,0.32633,0.37719,0.0085821,0.093748,6.9645e-05,.,0.0011637;ExAC_pLI=0.51947,.,.,.,.,4.2486e-09,.,.,0.047238,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0.43625,0.40931,0.51947,0.039012,.,0.39981;AnnotSV_ranking_score=-0.55;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2F/4O_(cf_B_loss_source,_-1.00)|2B_(cf_po_P_loss_source,_HI,_OMIM_morbid,_+0.00)|3B_(32_genes,_+0.45)|5F_(+0.00);ACMG_class=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3,full=3;END=7753583;SVLEN=-584092 GT 1/. 8 7169491 . G . PASS AnnotSV_ID=8_7169491_7753583_DUP_1;SV_start=7169491;Biologist_ranking=Benign;Annotation_mode=full,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split;CytoBand=p23.1;Gene_name=FAM66B|DEFB109B|USP17L1|USP17L4|ZNF705G|DEFB4B|DEFB103B|SPAG11B|DEFB104B|DEFB106B|DEFB105B|DEFB107B|PRR23D1|FAM90A7|FAM90A22|FAM90A23|FAM90A14|FAM90A18|FAM90A16|FAM90A8|FAM90A17|FAM90A19|FAM90A9|FAM90A10|PRR23D2|DEFB107A|DEFB105A|DEFB106A|DEFB104A|SPAG11A|DEFB103A|DEFB4A,FAM66B,DEFB109B,USP17L1,USP17L4,ZNF705G,DEFB4B,DEFB103B,SPAG11B,DEFB104B,DEFB106B,DEFB105B,DEFB107B,PRR23D1,FAM90A7,FAM90A22,FAM90A23,FAM90A14,FAM90A18,FAM90A16,FAM90A8,FAM90A17,FAM90A19,FAM90A9,FAM90A10,PRR23D2,DEFB107A,DEFB105A,DEFB106A,DEFB104A,SPAG11A,DEFB103A,DEFB4A;Closest_left=LINC00965;Closest_right=ZNF705B;Gene_count=32;Tx=.,NR_027423,NM_001037380,NM_001256873,NM_001256874,NM_001164457,NM_001205266,NM_018661,NM_058201,NM_001040702,NM_001040704,NM_001040703,NM_001040705,NM_001282479,NM_001397387,NM_001397382,NM_001397380,NM_001164452,NM_001164451,NM_001397396,NM_001164450,NM_001397391,NM_001164449,NM_001164448,NM_001164447,NM_001282478,NM_001037668,NM_152250,NM_152251,NM_080389,NM_001395484,NM_001081551,NM_004942;Tx_version=.,2,2,1,1,3,2,4,4,1,2,3,2,1,1,1,1,1,1,1,1,1,1,1,1,1,1,3,4,3,1,4,4;Tx_start=.,7156265,7170243,7189908,7194636,7213038,7272376,7286409,7308124,7327829,7340025,7345200,7353432,7397148,7414221,7429516,7437165,7572964,7580612,7588260,7595908,7603555,7611203,7618851,7626498,7636112,7669241,7678525,7682660,7693957,7705529,7738913,7752198;Tx_end=.,7212885,7177618,7191501,7196229,7243080,7274385,7287870,7321064,7332604,7343922,7347115,7366833,7399972,7417234,7432528,7440175,7575975,7583623,7591271,7598918,7606566,7614214,7621862,7629510,7638935,7673238,7681402,7686575,7698764,7718465,7740185,7754238;Overlapped_tx_length=.,43395,7375,1593,1593,30042,2009,1461,12940,4775,3897,1915,13401,2824,3013,3012,3010,3011,3011,3011,3010,3011,3011,3011,3012,2823,3997,2877,3915,4807,12936,1272,1385;Overlapped_CDS_length=.,0,264,1593,1593,903,195,204,402,219,198,237,213,840,1395,1395,1395,1395,1395,1395,1395,1395,1395,1395,1395,840,213,237,198,219,402,204,58;Overlapped_CDS_percent=.,0,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,100,29;Frameshift=.,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,yes;Exon_count=.,7,2,1,1,7,2,2,3,2,2,3,2,4,4,4,4,4,4,4,4,4,4,4,4,4,2,3,2,2,3,2,2;Location=.,txStart-intron6,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-intron1;Location2=.,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-CDS;Dist_nearest_SS=.,9797,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,412;Nearest_SS_type=.,3',.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,3';Intersect_start=.,7169490,7170243,7189908,7194636,7213038,7272376,7286409,7308124,7327829,7340025,7345200,7353432,7397148,7414221,7429516,7437165,7572964,7580612,7588260,7595908,7603555,7611203,7618851,7626498,7636112,7669241,7678525,7682660,7693957,7705529,7738913,7752198;Intersect_end=.,7212885,7177618,7191501,7196229,7243080,7274385,7287870,7321064,7332604,7343922,7347115,7366833,7399972,7417234,7432528,7440175,7575975,7583623,7591271,7598918,7606566,7614214,7621862,7629510,7638935,7673238,7681402,7686575,7698764,7718465,7740185,7753583;RE_gene=MCPH1_(morbid/RE=ABC_enhancer+GH_promoter_enhancer);po_P_gain_source=dbVar:nssv15169207|dbVar:nssv15128680|dbVar:nssv15161508|dbVar:nssv15161747|dbVar:nssv17976867|dbVar:nssv17957391|dbVar:nssv15154583|dbVar:nssv15161801|nssv15777239|nssv17976962|dbVar:nssv15154584|dbVar:nssv16206921|dbVar:nssv15154580|dbVar:nssv15161417|nssv15161657|dbVar:nssv15147671|dbVar:nssv15161846|dbVar:nssv15150473|dbVar:nssv15127651|dbVar:nssv15149098|dbVar:nssv15169210|dbVar:nssv15154582|dbVar:nssv15146537|dbVar:nssv15161807|dbVar:nssv15161553|dbVar:nssv15161105|dbVar:nssv15161095|dbVar:nssv15161561|dbVar:nssv15161078|dbVar:nssv15147455|dbVar:nssv16736635|dbVar:nssv15161269|dbVar:nssv15161748|dbVar:nssv15161749|dbVar:nssv15143576|dbVar:nssv15161775|dbVar:nssv15146180|dbVar:nssv15161087|dbVar:nssv15161068|dbVar:nssv15161792|dbVar:nssv15606063|dbVar:nssv15151542|dbVar:nssv15161084|dbVar:nssv16206931|dbVar:nssv15154577|dbVar:nssv15161089|dbVar:nssv15151538|dbVar:nssv15152254|dbVar:nssv18842054|dbVar:nssv15161540|dbVar:nssv15161727|dbVar:nssv15161764;po_P_gain_coord=8:10214-146293414|8:13939-146304022|8:46311-11879315|8:46311-30472220|8:158049-10348413|8:158049-11936107|8:158049-13974319|8:158049-146295771|8:158049-15423270|8:158049-8102819|8:158049-9750676|8:158050-146295771|8:158992-13304906|8:158992-146280828|8:158992-17536147|8:163683-46938942|8:164985-11860845|8:164985-146293414|8:168484-13147575|8:169854-10022996|8:176453-12556063|8:176453-12570496|8:176453-146294098|8:176453-16137655|8:176453-34349408|8:176453-37879246|8:176453-7838959|8:176815-43396776|8:191531-146274835|8:191531-146280020|8:191531-17536206|8:191531-22404983|8:191531-23055911|8:191531-7752586|8:191606-146280167|8:191606-24514484|8:191606-30948590|8:194618-13947374|8:1825201-24533193|8:6961184-12157391|8:6999220-11895232|8:6999220-11898980|8:6999220-38553064|8:6999220-8881836|8:7053187-11805960|8:7080282-12045269|8:7169491-12404062|8:7268820-12039974|8:7691902-12039974;po_P_gain_percent=0.40|0.40|4.94|1.92|5.73|4.96|4.23|0.40|3.83|7.35|6.09|0.40|4.44|0.40|3.36|1.25|4.99|0.40|4.50|5.93|4.72|4.71|0.40|3.66|1.71|1.55|7.62|1.35|0.40|0.40|3.37|2.63|2.55|7.71|0.40|2.40|1.90|4.25|2.57|11.24|11.93|11.92|1.85|31.03|12.29|11.76|11.16|10.16|1.42;po_P_loss_source=dbVar:nssv15168702|dbVar:nssv15169206|dbVar:nssv18842057|dbVar:nssv17956019|dbVar:nssv15154581|dbVar:nssv18326425|dbVar:nssv15149861|dbVar:nssv15775686|dbVar:nssv17976739|dbVar:nssv16208166|dbVar:nssv15774257|dbVar:nssv15149509|dbVar:nssv18330306|dbVar:nssv18329623|dbVar:nssv16216869|dbVar:nssv15169209|dbVar:nssv15223191|dbVar:nssv15147275|dbVar:nssv15148964|dbVar:nssv15147296|dbVar:nssv15146181|nssv15146816|dbVar:nssv15606064|dbVar:nssv15146660|dbVar:nssv18841910|dbVar:nssv15161264|nssv15161582|dbVar:nssv15145917|dbVar:nssv15161283|dbVar:nssv15161284|dbVar:nssv15161070|dbVar:nssv15141976|dbVar:nssv15161050;po_P_loss_coord=8:10214-10197718|8:10214-8948469|8:10502-11142629|8:10502-7214947|8:158049-10939681|8:158049-11281408|8:158049-13309069|8:158049-14214722|8:158049-30187456|8:158049-9025197|8:158049-9393052|8:158049-9749574|8:158050-10965627|8:158050-18936715|8:161517-11516619|8:164985-10007227|8:176815-7753583|8:191531-10049105|8:191531-10315994|8:191531-10724642|8:191531-7752586|8:194618-7787444|8:360370-7334625|8:399894-23712417|8:2292236-27361796|8:3791728-11384448|8:7053187-12241152|8:7092360-12372324|8:7169491-12404062|8:7268820-11805960|8:7268820-11819316;po_P_loss_percent=5.73|6.53|5.25|0.63|5.42|5.25|4.44|4.16|1.95|6.59|6.32|6.09|5.40|3.11|5.14|5.93|7.71|5.93|5.77|5.55|7.71|7.69|2.37|2.51|2.33|7.69|11.26|11.06|11.16|10.68|10.65;B_gain_source=DDD:26674|TS40:ISCA-37472|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|TS40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|TS40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|TS40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|TS40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26689|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098|nsv515100,DDD:26674|DDD:26675|DDD:26720|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26720|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26720|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098,DDD:26674|DDD:26727|DDD:26729|DDD:26742|DDD:26743|TS40:ISCA-37472|TS40:ISCA-46381|dbVar|dgv6936n100|esv2761169|esv2764098|gnomAD-SV_v2.1_DUP_8_23708,DDD:26674|DDD:26727|DDD:26729|DDD:26742|DDD:26743|TS40:ISCA-37472|dbVar|dgv6936n100|esv2761169|esv2764098;B_gain_coord=8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|8:7154889-7213289|chr8:7159226-7474073,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|8:7154889-7213289|chr8:7159226-7187516|chr8:7159226-7201223|chr8:7159226-7474073,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|8:7154889-7213289|chr8:7159226-7201223|chr8:7159226-7474073|chr8:7187516-7201223,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|8:7154889-7213289|chr8:7159226-7201223|chr8:7159226-7474073|chr8:7187516-7201223,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|chr8:7206400-7253000,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|chr8:7243000-7356000|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7201176-7392220|8:7241528-7403182|8:7250369-7832042,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7241528-7403182|8:7250369-7832042|chr8:7365000-7404400,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7159226-7474073|8:7250369-7832042|8:7401394-7472190|chr8:7403133-7474073|chr8:7404000-7437650,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|chr8:7159226-7474073|8:7250369-7832042|8:7401394-7472190|chr8:7403133-7474073|chr8:7404000-7437650|chr8:7424800-7474000,chr8:6828277-7474073|8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|chr8:7159226-7474073|8:7250369-7832042|8:7401394-7472190|chr8:7403133-7474073|chr8:7424800-7474000,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700|chr8:7608000-7649500,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7573000-7626700|chr8:7608000-7649500,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7633135|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7608000-7649500,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|chr8:7608000-7649500|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839|8:7718891-7784263|8:7734213-7856702|8:7737000-7743100|chr8:7737000-7743100|8:7737000-7743100,8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689|8:7250369-7832042|chr8:7525167-7866528|chr8:7525167-8097772|8:7632945-7856630|chr8:7633800-7810300|8:7634705-7829839|8:7718891-7784263|8:7734213-7856702;B_gain_AFmax=0.2355;B_loss_source=DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|DDD:26683|HI40:ISCA-37472|dbVar|esv2675221|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26670|DDD:26674|DDD:26675|DDD:26682|DDD:26687|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|HI40:ISCA-37472|dbVar|esv2761169|esv2764098,DDD:26674|DDD:26675|DDD:26720|HI40:ISCA-37472|dbVar|esv2761169|esv2764098|gnomAD-SV_v2.1_DEL_8_89341|gnomAD-SV_v2.1_DEL_8_89342,DDD:26674|DDD:26720|HI40:ISCA-37472|dbVar|esv2761169|esv2764098|gnomAD-SV_v2.1_DEL_8_89342,DDD:26674|DDD:26720|HI40:ISCA-37472|dbVar|esv2761169|esv2764098|gnomAD-SV_v2.1_DEL_8_89342,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|esv2761169|esv2764098,DDD:26674|DDD:26727|HI40:ISCA-37472|HI40:ISCA-46380|dbVar|esv2761169|esv2764098|gnomAD-SV_v2.1_DEL_8_89353,DDD:26674|DDD:26727|HI40:ISCA-37472|HI40:ISCA-46380|HI40:ISCA-46382|dbVar|esv2761169|esv2764098|gnomAD-SV_v2.1_DEL_8_89353|gnomAD-SV_v2.1_DEL_8_89355;B_loss_coord=8:6858816-8072303|8:6959834-8600711|8:7024892-8031414|8:7053187-8130689,8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934|8:7154889-7213289,8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934|8:7154889-7213289|8:7158046-7189992|8:7158202-7189800,8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934|8:7154889-7213289,8:6858816-8072303|8:6959834-8600711|8:6985776-7230992|8:7024892-8031414|8:7035907-7428513|8:7053187-8130689|chr8:7085462-7537934|8:7154889-7213289|8:7190892-7196288,8:6858816-8072303|8:6959834-8600711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eG_coord=8:6858816-8072303_esv2761169|8:6985776-7230992_DDD:26670|8:7035907-7428513_DDD:26675|chr8:7085462-7537934_dbVar|8:7158046-7189992_esv2675221|chr8:7175745-7175870_dbVar|8:7179583-7191032_1000g|chr8:7180382-7180743_dbVar|8:7190892-7196288_DDD:26687|8:7201000-7206400_gnomAD-SV_v2.1_DEL_8_89332|chr8:7212582-7227421_dbVar|8:7212583-7227421_esv3616116|chr8:7228000-7235000_dbVar|chr8:7276552-7277128_dbVar|8:7308244-7308706_DDD:26704|chr8:7355000-7363000_dbVar|chr8:7355293-7364762_dbVar|8:7355294-7364762_esv3616120|chr8:7402900-7419700_dbVar|chr8:7405950-7443050_dbVar...;Cosmic_ID=674618|1021421|1021422|646653|1520679|1915732|3052323|2599287|832406|665154|653853|679166|678976|663306|700319|654990|679312|646920|863772|653647|649616|671308|658988|675704|1023557|678564|857770|745967|654991|676140|783310|824013|870858|820152|834536|871873|875246|654992|701040|665155|745968|682446|745969|702113|890458|732002|921361|909011|880183|1018294|925302|...,.,.,.,.,1023557|745967|654991|676140|745968|732002,.,.,.,.,.,.,603719|849088|921364,.,.,.,.,.,.,.,.,.,.,.,.,.,682133,.,.,.,.,.,.;Cosmic_mut_typ=loss|gain,.,.,.,.,loss|gain,.,.,.,.,.,.,gain,.,.,.,.,.,.,.,.,.,.,.,.,.,gain,.,.,.,.,.,.;GC_content_left=0.26;GC_content_right=0.33;SegDup_left=8:7150797-7184572|8:7150797-7195814|8:7150797-7200543|8:7150798-7238459;SegDup_right=8:7600001-7825413;ENCODE_blacklist_left=8:7012601-8066200;ENCODE_blacklist_characteristics_left=High_Signal_Region;ENCODE_blacklist_right=8:7012601-8066200;ENCODE_blacklist_characteristics_right=High_Signal_Region;DDD_HI_percent=99.72,.,.,.,.,91.1,99.72,85.97,89.4,95.66,93.29,90.95,91.71,.,.,.,.,.,.,.,.,.,.,.,.,.,92.48,90.61,90.45,96.98,97.15,93.4,97.87;ExAC_synZ=2.14121257165536,.,.,.,.,-1.59751875296103,.,.,2.14121257165536,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0.918523398770926,0.676417083229402,1.33624136747443,0.140072348156658,.,1.12959151611996;ExAC_misZ=2.19863945242443,.,.,.,.,-3.97736276921453,.,.,1.8677219993927,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0.008093353918723,1.6332400949348,2.19863945242443,0.903069021299127,.,0.758429673080804;NCBI_gene_ID=.,100128890,641517,401447,645402,100131980,100289462,55894,10407,503618,503841,504180,503614,100131608,441317,645558,645572,645651,441326,441323,441324,728746,728753,441327,441328,100133251,245910,245908,245909,140596,653423,414325,1673;LOEUF_bin=8,.,.,.,.,9,9,.,9,9,9,9,.,8,.,.,.,.,.,.,.,.,.,.,.,.,9,8,9,9,9,.,9;GnomAD_pLI=0.4218,.,.,.,.,1.6471e-08,0.067977,.,0.027751,0.33176,0.081151,0.29184,.,0.4218,.,.,.,.,.,.,.,.,.,.,.,.,0.32633,0.37719,0.0085821,0.093748,6.9645e-05,.,0.0011637;ExAC_pLI=0.51947,.,.,.,.,4.2486e-09,.,.,0.047238,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0.43625,0.40931,0.51947,0.039012,.,0.39981;AnnotSV_ranking_score=-1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2D_(cf_B_gain_source,_-1.00)|2B_(cf_po_P_gain_source,_TS,_OMIM_morbid,_+0.00)|2E_(cf_B_gain_source,_+0.00)|2L_(DEFB4A/FAM66B,_+0.00)|3A_(32_genes,_+0.00)|5F_(+0.00);ACMG_class=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1;END=7753583;SVLEN=584092 GT 1/. -8 56986130 . T . PASS AnnotSV_ID=8_56986130_57169684_DEL_1;SV_start=56986130;Biologist_annotation=VOUS_in_2017,_reclassified_in_2020;Biologist_ranking=Pathogenic;Annotation_mode=full,split,split,split,split,split,split;CytoBand=q12.1;Gene_name=RPS20|SNORD54|CERNA3|MOS|PLAG1|CHCHD7,RPS20,SNORD54,CERNA3,MOS,PLAG1,CHCHD7;Closest_left=SNORA1B;Closest_right=SDR16C5;Gene_count=6;Tx=.,NM_001146227,NR_002437,NR_149110,NM_005372,NM_001114634,NM_001011668;Tx_version=.,3,1,1,1,2,3;Tx_start=.,56979812,56986397,56987150,57025500,57073467,57124347;Tx_end=.,56987065,56986460,56987833,57026541,57123832,57131368;Overlapped_tx_length=.,936,63,683,1041,50365,7021;Overlapped_CDS_length=.,177,0,0,1041,1503,333;Overlapped_CDS_percent=.,41,0,0,100,100,100;Frameshift=.,no,no,no,no,no,no;Exon_count=.,6,1,2,1,4,5;Location=.,txStart-intron3,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd;Location2=.,5'UTR-CDS,UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR;Dist_nearest_SS=.,124,.,.,.,.,.;Nearest_SS_type=.,5',.,.,.,.,.;Intersect_start=.,56986129,56986397,56987150,57025500,57073467,57124347;Intersect_end=.,56987065,56986460,56987833,57026541,57123832,57131368;RE_gene=LYN_(morbid/RE=ABC_enhancer+EA_enhancer+GH_enhancer+GH_promoter_enhancer);P_loss_phen=Adenomas,_salivary_gland_pleomorphic,_somatic,_181030_(3)|Silver-Russell_syndrome_4,_618907_(3)_AD|Oocyte|zygote|embryo_maturation_arrest_20,_620383_(3)_AR,.,.,.,Oocyte|zygote|embryo_maturation_arrest_20,_620383_(3)_AR,Adenomas,_salivary_gland_pleomorphic,_somatic,_181030_(3)|Silver-Russell_syndrome_4,_618907_(3)_AD,.;P_loss_source=morbid:MOS|morbid:PLAG1,.,.,.,morbid:MOS,morbid:PLAG1,.;P_loss_coord=8:57025501-57026541|8:57073468-57123832,.,.,.,8:57025501-57026541,8:57073468-57123832,.;po_P_gain_source=dbVar:nssv15169207|dbVar:nssv15128680|dbVar:nssv15161801|nssv15777239|nssv17976962|dbVar:nssv15161417|nssv15161657|dbVar:nssv15161846|dbVar:nssv15169210|dbVar:nssv15161105|dbVar:nssv15161269|dbVar:nssv15161748|dbVar:nssv15161087|dbVar:nssv15161426|dbVar:nssv15161357|dbVar:nssv15777249|dbVar:nssv15147495|dbVar:nssv15774700|dbVar:nssv15161758|dbVar:nssv15161797|dbVar:nssv15139743|dbVar:nssv15135704;po_P_gain_coord=8:10214-146293414|8:13939-146304022|8:158049-146295771|8:158050-146295771|8:158992-146280828|8:164985-146293414|8:176453-146294098|8:191531-146274835|8:191531-146280020|8:191606-146280167|8:12491000-146295771|8:21149034-146295771|8:31936552-146295771|8:36437622-60531557|8:39555658-64049089|8:46942957-70216022|8:46942963-140297737|8:53436132-65195953|8:56228415-65864987;po_P_gain_percent=0.13|0.13|0.13|0.13|0.13|0.13|0.13|0.13|0.13|0.13|0.14|0.15|0.16|0.76|0.75|0.79|0.20|1.56|1.90;po_P_loss_source=dbVar:nssv15167540|dbVar:nssv15148967|dbVar:nssv15138741|dbVar:nssv15125104|dbVar:nssv15137960|dbVar:nssv15137390|dbVar:nssv15121489|dbVar:nssv15124419;po_P_loss_coord=8:49822484-58822602|8:50384338-58738029|8:54237950-62775577|8:54407102-58403572|8:55677511-57697858|8:55733918-62058861|8:56335974-59749312|8:56405321-57358911;po_P_loss_percent=2.04|2.20|2.15|4.59|9.09|2.90|5.38|19.25;po_B_gain_someG_source=8:57048633-57098412_1000g|chr8:57153249-57153357_dbVar|;po_B_gain_someG_coord=chr8:57048632-57098412_dbVar|chr8:57048719-57098544_dbVar|chr8:57161314-57168512_dbVar;po_B_loss_someG_source=chr8:56988070-56988448_dbVar|8:56988698-56989817_1000g|8:56988746-56989825_DDD:27790|chr8:56988762-56997935_dbVar|chr8:57005850-57007074_dbVar|chr8:57059737-57063078_dbVar|chr8:57160128-57168353_dbVar|chr8:57161314-57168512_dbVar;po_B_loss_someG_coord=chr8:56988017-57000275_dbVar|chr8:56988697-56989817_dbVar|chr8:56988709-56997905_dbVar|chr8:56988754-56989776_dbVar|8:56988763-56997935_1000g|chr8:57047231-57047490_dbVar|chr8:57154268-57155609_dbVar|chr8:57161113-57168156_dbVar;Cosmic_ID=848459|394952|394953|395216|227414|227459|534473|534774|534866|302857|580548|575671|484667|558558|471349|469505|335198|335303|335354|376852|376955|376962|376972|376977|564747|681488|259626|589430|571930|312032|312165|312226|312239|302858|303092|303101|303169|303182|303196|303201|280931|777179|855820|280932|282047|282072,.,.,.,.,280931|777179,.;Cosmic_mut_typ=loss|gain,.,.,.,.,gain,.;GC_content_left=0.41;GC_content_right=0.33;Repeat_coord_right=8:57169736-57169990;Repeat_type_right=AluSz6;DDD_HI_percent=78.38,29.1,.,.,78.38,15.18,47.62;ExAC_delZ=0.98432298330431,0.98432298330431,.,.,0.159444434408663,0.393657994766781,0.447428062348521;ExAC_dupZ=0.46663829854876,-0.0464637247715686,.,.,0.46663829854876,-2.53125239294469,0.400234098889925;ExAC_cnvZ=0.586548999968454,0.36681079114905,.,.,0.524682444320288,-2.47162789907313,0.586548999968454;ExAC_synZ=2.2343517715388,-0.0133102053832282,.,.,2.2343517715388,-0.349819812502603,-0.725400991144389;ExAC_misZ=2.48184869967673,2.09183372030708,.,.,2.48184869967673,1.96019845356841,-0.857804306808559;GenCC_disease=.,Diamond-Blackfan_anemia|Lynch_syndrome|familial_colorectal_cancer_type_X|hereditary_nonpolyposis_colon_cancer,.,.,oocyte/zygote/embryo_maturation_arrest_20,silver-russell_syndrome_4,.;GenCC_moi=.,AD,.,.,.,AD,.;GenCC_classification=.,Limited|Supportive,.,.,Limited,Moderate|Strong,.;GenCC_pmid=.,24941021[PMID]|32790018[PMID],.,.,34779126|34997960|35670744,15606491|28796236|32546215,.;NCBI_gene_ID=.,6224,26795,105375847,55034,5324,79145;OMIM_ID=190060|603026,.,.,.,190060,603026,.;OMIM_phenotype=.,.,.,.,Oocyte/zygote/embryo_maturation_arrest_20,_620383_(3)_AR,Adenomas,_salivary_gland_pleomorphic,_somatic,_181030_(3)|Silver-Russell_syndrome_4,_618907_(3)_AD,.;OMIM_inheritance=.,.,.,.,AR,AD,.;OMIM_morbid=yes,.,.,.,yes,yes,.;LOEUF_bin=0,5,.,.,3,0,6;GnomAD_pLI=0.99532,0.020686,.,.,0.58928,0.99532,0.034885;ExAC_pLI=0.82992,0.68632,.,.,0.14931,0.82992,0.38798;AnnotSV_ranking_score=1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2A_(cf_P_loss_source,_+1.00)|3A_(6_genes,_+0.00)|5F_(+0.00);ACMG_class=5,full=5,full=5,full=5,full=5,full=5,full=5;END=57169684;SVLEN=-183554 GT 1/. +8 56986130 . T . PASS AnnotSV_ID=8_56986130_57169684_DEL_1;SV_start=56986130;Biologist_annotation=VOUS_in_2017,_reclassified_in_2020;Biologist_ranking=Pathogenic;Annotation_mode=full,split,split,split,split,split,split;CytoBand=q12.1;Gene_name=RPS20|SNORD54|CERNA3|MOS|PLAG1|CHCHD7,RPS20,SNORD54,CERNA3,MOS,PLAG1,CHCHD7;Closest_left=SNORA1B;Closest_right=SDR16C5;Gene_count=6;Tx=.,NM_001146227,NR_002437,NR_149110,NM_005372,NM_001114634,NM_001011668;Tx_version=.,3,1,1,1,2,3;Tx_start=.,56979812,56986397,56987150,57025500,57073467,57124347;Tx_end=.,56987065,56986460,56987833,57026541,57123832,57131368;Overlapped_tx_length=.,936,63,683,1041,50365,7021;Overlapped_CDS_length=.,177,0,0,1041,1503,333;Overlapped_CDS_percent=.,41,0,0,100,100,100;Frameshift=.,no,no,no,no,no,no;Exon_count=.,6,1,2,1,4,5;Location=.,txStart-intron3,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd;Location2=.,5'UTR-CDS,UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR;Dist_nearest_SS=.,124,.,.,.,.,.;Nearest_SS_type=.,5',.,.,.,.,.;Intersect_start=.,56986129,56986397,56987150,57025500,57073467,57124347;Intersect_end=.,56987065,56986460,56987833,57026541,57123832,57131368;RE_gene=LYN_(morbid/RE=ABC_enhancer+EA_enhancer+GH_enhancer+GH_promoter_enhancer);P_loss_phen=Adenomas,_salivary_gland_pleomorphic,_somatic,_181030_(3)|Silver-Russell_syndrome_4,_618907_(3)_AD|Oocyte|zygote|embryo_maturation_arrest_20,_620383_(3)_AR,.,.,.,Oocyte|zygote|embryo_maturation_arrest_20,_620383_(3)_AR,Adenomas,_salivary_gland_pleomorphic,_somatic,_181030_(3)|Silver-Russell_syndrome_4,_618907_(3)_AD,.;P_loss_source=morbid:MOS|morbid:PLAG1,.,.,.,morbid:MOS,morbid:PLAG1,.;P_loss_coord=8:57025501-57026541|8:57073468-57123832,.,.,.,8:57025501-57026541,8:57073468-57123832,.;po_P_gain_source=dbVar:nssv15169207|dbVar:nssv15128680|dbVar:nssv15161801|nssv15777239|nssv17976962|dbVar:nssv15161417|nssv15161657|dbVar:nssv15161846|dbVar:nssv15169210|dbVar:nssv15161105|dbVar:nssv15161269|dbVar:nssv15161748|dbVar:nssv15161087|dbVar:nssv15161426|dbVar:nssv15161357|dbVar:nssv15777249|dbVar:nssv15147495|dbVar:nssv15774700|dbVar:nssv15161758|dbVar:nssv15161797|dbVar:nssv15139743|dbVar:nssv15135704;po_P_gain_coord=8:10214-146293414|8:13939-146304022|8:158049-146295771|8:158050-146295771|8:158992-146280828|8:164985-146293414|8:176453-146294098|8:191531-146274835|8:191531-146280020|8:191606-146280167|8:12491000-146295771|8:21149034-146295771|8:31936552-146295771|8:36437622-60531557|8:39555658-64049089|8:46942957-70216022|8:46942963-140297737|8:53436132-65195953|8:56228415-65864987;po_P_gain_percent=0.13|0.13|0.13|0.13|0.13|0.13|0.13|0.13|0.13|0.13|0.14|0.15|0.16|0.76|0.75|0.79|0.20|1.56|1.90;po_P_loss_source=dbVar:nssv15167540|dbVar:nssv15148967|dbVar:nssv15138741|dbVar:nssv15125104|dbVar:nssv15137960|dbVar:nssv15137390|dbVar:nssv15121489|dbVar:nssv15124419;po_P_loss_coord=8:49822484-58822602|8:50384338-58738029|8:54237950-62775577|8:54407102-58403572|8:55677511-57697858|8:55733918-62058861|8:56335974-59749312|8:56405321-57358911;po_P_loss_percent=2.04|2.20|2.15|4.59|9.09|2.90|5.38|19.25;po_B_gain_someG_source=8:57048633-57098412_1000g|chr8:57153249-57153357_dbVar|;po_B_gain_someG_coord=chr8:57048632-57098412_dbVar|chr8:57048719-57098544_dbVar|chr8:57161314-57168512_dbVar;po_B_loss_someG_source=chr8:56988070-56988448_dbVar|8:56988698-56989817_1000g|8:56988746-56989825_DDD:27790|chr8:56988762-56997935_dbVar|chr8:57005850-57007074_dbVar|chr8:57059737-57063078_dbVar|chr8:57160128-57168353_dbVar|chr8:57161314-57168512_dbVar;po_B_loss_someG_coord=chr8:56988017-57000275_dbVar|chr8:56988697-56989817_dbVar|chr8:56988709-56997905_dbVar|chr8:56988754-56989776_dbVar|8:56988763-56997935_1000g|chr8:57047231-57047490_dbVar|chr8:57154268-57155609_dbVar|chr8:57161113-57168156_dbVar;Cosmic_ID=848459|394952|394953|395216|227414|227459|534473|534774|534866|302857|580548|575671|484667|558558|471349|469505|335198|335303|335354|376852|376955|376962|376972|376977|564747|681488|259626|589430|571930|312032|312165|312226|312239|302858|303092|303101|303169|303182|303196|303201|280931|777179|855820|280932|282047|282072,.,.,.,.,280931|777179,.;Cosmic_mut_typ=loss|gain,.,.,.,.,gain,.;GC_content_left=0.41;GC_content_right=0.33;Repeat_coord_right=8:57169736-57169990;Repeat_type_right=AluSz6;DDD_HI_percent=78.38,29.1,.,.,78.38,15.18,47.62;ExAC_delZ=0.98432298330431,0.98432298330431,.,.,0.159444434408663,0.393657994766781,0.447428062348521;ExAC_dupZ=0.46663829854876,-0.0464637247715686,.,.,0.46663829854876,-2.53125239294469,0.400234098889925;ExAC_cnvZ=0.586548999968454,0.36681079114905,.,.,0.524682444320288,-2.47162789907313,0.586548999968454;ExAC_synZ=2.2343517715388,-0.0133102053832282,.,.,2.2343517715388,-0.349819812502603,-0.725400991144389;ExAC_misZ=2.48184869967673,2.09183372030708,.,.,2.48184869967673,1.96019845356841,-0.857804306808559;GenCC_disease=.,Diamond-Blackfan_anemia|familial_colorectal_cancer_type_X|hereditary_nonpolyposis_colon_cancer,.,.,oocyte/zygote/embryo_maturation_arrest_20,silver-russell_syndrome_4,.;GenCC_moi=.,AD,.,.,.,AD,.;GenCC_classification=.,Limited|Supportive,.,.,Limited,Moderate|Strong,.;GenCC_pmid=.,24941021[PMID]|32790018[PMID],.,.,34779126|34997960|35670744,15606491|28796236|32546215,.;NCBI_gene_ID=.,6224,26795,105375847,55034,5324,79145;OMIM_ID=190060|603026,.,.,.,190060,603026,.;OMIM_phenotype=.,.,.,.,Oocyte/zygote/embryo_maturation_arrest_20,_620383_(3)_AR,Adenomas,_salivary_gland_pleomorphic,_somatic,_181030_(3)|Silver-Russell_syndrome_4,_618907_(3)_AD,.;OMIM_inheritance=.,.,.,.,AR,AD,.;OMIM_morbid=yes,.,.,.,yes,yes,.;LOEUF_bin=0,5,.,.,3,0,6;GnomAD_pLI=0.99532,0.020686,.,.,0.58928,0.99532,0.034885;ExAC_pLI=0.82992,0.68632,.,.,0.14931,0.82992,0.38798;AnnotSV_ranking_score=1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2A_(cf_P_loss_source,_+1.00)|3A_(6_genes,_+0.00)|5F_(+0.00);ACMG_class=5,full=5,full=5,full=5,full=5,full=5,full=5;END=57169684;SVLEN=-183554 GT 1/. 8 141035364 . G . PASS AnnotSV_ID=8_141035364_141061798_DEL_1;SV_start=141035364;Biologist_annotation=DI_AR;Biologist_ranking=Pathogenic;Annotation_mode=full,split;CytoBand=q24.3;Gene_name=TRAPPC9;Closest_left=C8orf17;Closest_right=PEG13;Gene_count=1;Tx=.,NM_001160372;Tx_version=.,4;Tx_start=.,140739967;Tx_end=.,141467843;Overlapped_tx_length=.,26435;Overlapped_CDS_length=.,0;Overlapped_CDS_percent=.,0;Frameshift=.,no;Exon_count=.,23;Location=.,intron17-intron17;Location2=.,CDS;Dist_nearest_SS=.,1187;Nearest_SS_type=.,3';Intersect_start=.,141035363;Intersect_end=.,141061798;RE_gene=KCNK9_(morbid/RE=ABC_enhancer+GH_enhancer);po_P_gain_source=dbVar:nssv15169207|dbVar:nssv15128680|dbVar:nssv15161801|nssv15777239|nssv17976962|dbVar:nssv15161417|nssv15161657|dbVar:nssv15161846|dbVar:nssv15169210|dbVar:nssv15161105|dbVar:nssv15161269|dbVar:nssv15161748|dbVar:nssv15161087|dbVar:nssv15161426|dbVar:nssv15161357|dbVar:nssv15777249|dbVar:nssv18326351|dbVar:nssv17970300|dbVar:nssv15161337|dbVar:nssv15161103|dbVar:nssv17977109|dbVar:nssv15161374|dbVar:nssv15161674|dbVar:nssv15161669|dbVar:nssv15161791|dbVar:nssv15161680|dbVar:nssv15161065|dbVar:nssv17976072|dbVar:nssv15161091|dbVar:nssv15161853|dbVar:nssv15161352|dbVar:nssv15161104|dbVar:nssv15161722|dbVar:nssv15161428|dbVar:nssv16208199|dbVar:nssv15162410|dbVar:nssv15773510|dbVar:nssv15774288|dbVar:nssv15161330|dbVar:nssv15161750|dbVar:nssv16206976|dbVar:nssv15161266|dbVar:nssv17970325|dbVar:nssv15131822|dbVar:nssv18841906|dbVar:nssv15161331|dbVar:nssv15143620|dbVar:nssv15161849|dbVar:nssv15775349|dbVar:nssv15161867|dbVar:nssv15775091|dbVar:nssv15161075|dbVar:nssv15161551;po_P_gain_coord=8:10214-146293414|8:13939-146304022|8:158049-146295771|8:158050-146295771|8:158992-146280828|8:164985-146293414|8:176453-146294098|8:191531-146274835|8:191531-146280020|8:191606-146280167|8:12491000-146295771|8:21149034-146295771|8:31936552-146295771|8:68912433-146295771|8:70382991-146295771|8:78392287-146294098|8:79526313-146280020|8:84712254-146295771|8:86778229-146295771|8:86841155-146295771|8:86841229-142689874|8:88943381-146294098|8:93047483-141355635|8:95694383-146294042|8:96496504-146295711|8:98395102-146295771|8:98432251-146222672|8:101879572-146295771|8:104318565-146294098|8:114592632-146280020|8:114853127-146295771|8:121042468-146295771|8:121694650-146295771|8:122193547-146295771|8:125496224-146295771|8:125510740-146294098|8:125526332-146280020|8:128877996-146295771|8:129233159-146274835|8:130863094-146295771|8:131127765-142238309|8:131138344-143473913|8:131651429-146294098|8:131682564-146280020|8:134825278-146280828|8:136059860-146295771|8:136378790-146295771|8:139188798-146295771|8:140016462-146274835|8:140249068-146294098;po_P_gain_percent=0.02|0.02|0.02|0.02|0.02|0.02|0.02|0.02|0.02|0.02|0.02|0.02|0.02|0.03|0.03|0.04|0.04|0.04|0.04|0.04|0.05|0.05|0.05|0.05|0.05|0.06|0.06|0.06|0.06|0.08|0.08|0.10|0.11|0.11|0.13|0.13|0.13|0.15|0.16|0.17|0.24|0.21|0.18|0.18|0.23|0.26|0.27|0.37|0.42|0.44;po_P_loss_phen=Intellectual_developmental_disorder,_AR_13,_613192_(3)_AR;po_P_loss_source=dbVar:nssv16208202|dbVar:nssv15127815|morbid:TRAPPC9;po_P_loss_coord=8:126892815-143750028|8:127638607-144388560|8:140739968-141468678;po_P_loss_percent=0.16|0.16|3.63;B_loss_source=dbVar;B_loss_coord=chr8:140980774-141135131;B_loss_AFmax=0.01;po_B_loss_someG_source=chr8:141040435-141042904_dbVar;po_B_loss_someG_coord=chr8:140980774-141135131_dbVar;GC_content_left=0.535;GC_content_right=0.38;Repeat_coord_left=8:141035378-141035461|8:141035462-141035486;Repeat_type_left=MER58C|(CAAAA)n;HI=.,30;TS=.,0;DDD_HI_percent=53.39;ExAC_delZ=0.107633755409335;ExAC_dupZ=-1.97676981971355;ExAC_cnvZ=-1.34878674017516;ExAC_synZ=-0.190632175596259;ExAC_misZ=1.58912949219012;GenCC_disease=.,autosomal_recessive_non-syndromic_intellectual_disability|intellectual_disability,_autosomal_recessive_13|intellectual_disability-obesity-brain_malformations-facial_dysmorphism_syndrome;GenCC_moi=.,AR;GenCC_classification=.,Definitive|Moderate|Strong|Supportive;GenCC_pmid=.,17120046|2000476|20004763|20004764|20004765|20004765[PMID]_20004763[PMID]_20004765[PMID]|22549410|22549410[PMID];NCBI_gene_ID=.,83696;OMIM_ID=611966;OMIM_phenotype=.,Intellectual_developmental_disorder,_AR_13,_613192_(3)_AR;OMIM_inheritance=.,AR;OMIM_morbid=yes;LOEUF_bin=3;GnomAD_pLI=2.2898e-14;ExAC_pLI=5.7604e-06;AnnotSV_ranking_score=-1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2F/4O_(cf_B_loss_source,_-1.00)|2B_(cf_po_P_loss_source,_HI,_OMIM_morbid,_+0.00)|3A_(1_gene,_+0.00)|5F_(+0.00);ACMG_class=1,full=1;END=141061798;SVLEN=-26434 GT 1/. 10 46976158 . G . PASS AnnotSV_ID=10_46976158_47590995_DUP_1;SV_start=46976158;Biologist_ranking=Benign;Annotation_mode=full,split,split,split,split,split,split,split,split,split;CytoBand=q11.22;Gene_name=GPRIN2|NPY4R|LINC00842|HNRNPA1P33|ANXA8L1|FAM25BP|AGAP14P|SHLD2P3|ANTXRLP1,GPRIN2,NPY4R,LINC00842,HNRNPA1P33,ANXA8L1,FAM25BP,AGAP14P,SHLD2P3,ANTXRLP1;Closest_left=SYT15;Closest_right=LOC105378577;Gene_count=9;Tx=.,NM_001385287,NM_001278794,NR_033957,NR_003277,NM_001098845,NR_104039,NR_165820,NR_027634,NR_103827;Tx_version=.,1,2,2,2,3,1,1,1,1;Tx_start=.,46992020,47083456,47096453,47133334,47157988,47177206,47192907,47379719,47590260;Tx_end=.,47007881,47088320,47151400,47133898,47173994,47181688,47213477,47421238,47640844;Overlapped_tx_length=.,15861,4864,54947,564,16006,4482,20570,41519,735;Overlapped_CDS_length=.,1449,1128,0,0,984,0,0,0,0;Overlapped_CDS_percent=.,100,73,0,0,100,0,0,0,0;Frameshift=.,no,no,no,no,no,no,no,no,no;Exon_count=.,4,2,4,1,12,3,8,7,5;Location=.,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,intron4-txEnd;Location2=.,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR,UTR,UTR,UTR;Dist_nearest_SS=.,.,.,.,.,.,.,.,.,53;Nearest_SS_type=.,.,.,.,.,.,.,.,.,3';Intersect_start=.,46992020,47083456,47096453,47133334,47157988,47177206,47192907,47379719,47590260;Intersect_end=.,47007881,47088320,47151400,47133898,47173994,47181688,47213477,47421238,47590995;RE_gene=GDF2_(morbid/RE=ABC_enhancer);po_P_gain_source=dbVar:nssv15171419|dbVar:nssv15161644|dbVar:nssv15171420|dbVar:nssv15161671|dbVar:nssv15161670|nssv15161864|dbVar:nssv18830975|dbVar:nssv15148987|dbVar:nssv15146649|dbVar:nssv15148014|dbVar:nssv15147999|dbVar:nssv15127252|dbVar:nssv15149138|dbVar:nssv15160810|dbVar:nssv15153822|dbVar:nssv18329611|dbVar:nssv15157044|dbVar:nssv15774462;po_P_gain_coord=10:73233-135524321|10:93298-135378918|10:98088-135477883|10:100027-50961640|10:100028-135427143|10:11138693-135427143|10:42607636-69160433|10:42890650-52636819|10:43180755-75475666|10:43379743-54025077|10:43957497-55681185|10:46242058-51595050|10:46591858-51028871|10:46966534-51822386|10:46966535-51903756|10:47049548-51903662|10:47148814-51626260;po_P_gain_percent=0.45|0.45|0.45|1.21|0.45|0.49|2.32|6.31|1.90|5.78|5.24|11.49|13.86|12.66|12.45|11.15|9.88;po_P_loss_source=dbVar:nssv18830989|dbVar:nssv18792766|dbVar:nssv15148974|dbVar:nssv15147055|dbVar:nssv15147325|dbVar:nssv15149769|dbVar:nssv15153824|dbVar:nssv15775323|dbVar:nssv18330284|dbVar:nssv18842061|dbVar:nssv18326311|dbVar:nssv15152293|dbVar:nssv15147381|dbVar:nssv15149118|dbVar:nssv15148000|dbVar:nssv15148874|dbVar:nssv15605856|dbVar:nssv17976988|dbVar:nssv16252224|dbVar:nssv15153821|dbVar:nssv15155360|dbVar:nssv15153823|nssv15775280|dbVar:nssv15149894|dbVar:nssv18330270|dbVar:nssv15151095|dbVar:nssv15150620|dbVar:nssv16596271|dbVar:nssv16254627;po_P_loss_coord=10:12829207-135427143|10:46200157-51028871|10:46205691-51330432|10:46205691-51911085|10:46205697-51724915|10:46224447-51594991|10:46225365-51874356|10:46235358-51874163|10:46269494-51874356|10:46284270-51870080|10:46287822-51627470|10:46287822-51861565|10:46476966-51724915|10:46491170-51081560|10:46491170-51594991|10:46491170-51664079|10:46544811-51743471|10:46576516-51680164|10:46964974-51826226|10:46966534-51700837|10:46966534-51874356|10:46966534-51903755|10:46966534-51903756|10:46966535-51700837|10:46966535-51822386|10:46966535-51903756|10:46966536-51874356|10:47132306-51627470;po_P_loss_percent=0.50|12.73|12.00|10.78|11.14|11.45|10.88|10.90|10.97|11.01|11.51|11.03|11.72|13.39|12.05|11.89|11.83|12.05|12.65|12.99|12.53|12.45|12.45|12.99|12.66|12.45|12.53|10.20;B_gain_source=DDD:32922|dgv221e212|dgv24e55|nsv516485,1000g|DDD:32922|DDD:32934|DDD:32936|DDD:32937|dbVar|dgv116e214|dgv221e212|dgv22e55|dgv24e55|nsv516485,DDD:32922|DDD:32934|DDD:32936|DDD:32937|dbVar|dgv221e212|dgv22e55|dgv24e55|nsv516485,DDD:32922|DDD:32936|DDD:32937|dbVar|dgv221e212|dgv24e55|nsv516485,1000g|DDD:32922|DDD:32934|DDD:32936|DDD:32937|dbVar|dgv118e214|dgv221e212|dgv22e55|dgv24e55|nsv516485,DDD:32922|DDD:32936|DDD:32937|dbVar|dgv221e212|dgv24e55|nsv516485,DDD:32922|DDD:32936|DDD:32937|dbVar|dgv221e212|dgv24e55|nsv516485,DDD:32922|DDD:32936|dbVar|dgv221e212|dgv24e55|nsv516485,DDD:32922|dbVar|dgv221e212|dgv24e55|nsv516485,1000g|DDD:32922|DDD:32970|DDD:32972|TS40:ISCA-46639|dbVar|dgv120e214|dgv221e212|dgv24e55|dgv85n27|esv2421526|gnomAD-SV_v2.1_DUP_10_29734|nsv516485;B_gain_coord=10:46109534-48312291|10:46416327-47756284|10:46943378-47742094|10:46966535-48298893,10:46109534-48312291|10:46416327-47756284|10:46923704-47138897|10:46931463-47389066|10:46931470-47201116|10:46943378-47136996|10:46943378-47742094|10:46966535-48298893|chr10:46976292-47023561|10:46976293-47023561|10:46976293-47023561|10:46976293-47023561|10:46976293-47023561,10:46109534-48312291|10:46416327-47756284|10:46923704-47138897|10:46931463-47389066|10:46931470-47201116|10:46943378-47136996|10:46943378-47742094|10:46966535-48298893|chr10:47048634-47429105,10:46109534-48312291|10:46416327-47756284|10:46931463-47389066|10:46931470-47201116|10:46943378-47742094|10:46966535-48298893|chr10:47048634-47429105,10:46109534-48312291|10:46416327-47756284|10:46923704-47138897|10:46931463-47389066|10:46931470-47201116|10:46943378-47136996|10:46943378-47742094|10:46966535-48298893|chr10:47048634-47429105|chr10:47089972-47150813|10:47089973-47150813|10:47089973-47150813|10:47089973-47150813|10:47089973-47150813|chr10:47132970-47134018,10:46109534-48312291|10:46416327-47756284|10:46931463-47389066|10:46931470-47201116|10:46943378-47742094|10:46966535-48298893|chr10:47048634-47429105,10:46109534-48312291|10:46416327-47756284|10:46931463-47389066|10:46931470-47201116|10:46943378-47742094|10:46966535-48298893|chr10:47048634-47429105,10:46109534-48312291|10:46416327-47756284|10:46931463-47389066|10:46943378-47742094|10:46966535-48298893|chr10:47048634-47429105,10:46109534-48312291|10:46416327-47756284|10:46943378-47742094|10:46966535-48298893|chr10:47048634-47429105,10:46109534-48312291|10:46416327-47756284|10:46943378-47742094|10:46966535-48298893|chr10:47531022-47599037|10:47531023-47599037|10:47531023-47599037|10:47531764-47597768|chr10:47535103-47764425|10:47537369-47652803|10:47539193-47885867|10:47543323-47703613|10:47545737-47759694|chr10:47561240-47680774|chr10:47585775-47727500|10:47585775-47727500;B_gain_AFmax=0.11,0.9544,0.11,0.11,0.9544,0.11,0.11,0.11,0.11,0.11;B_loss_source=DDD:32922|dgv23e55|nsv516485,DDD:32922|DDD:32937|dgv23e55|nsv516485,DDD:32922|DDD:32937|dgv23e55|nsv516485,DDD:32922|DDD:32937|dgv23e55|nsv516485,DDD:32922|DDD:32937|dgv23e55|nsv516485,DDD:32922|DDD:32937|dgv23e55|esv2663732|nsv516485,DDD:32922|DDD:32937|dgv23e55|esv2663732|nsv516485,DDD:32922|dgv23e55|esv2663732|nsv516485,DDD:32922|dgv23e55|nsv516485,1000g|DDD:32922|dbVar|dgv23e55|esv2421526|esv3623125|gnomAD-SV_v2.1_DEL_10_110010|nsv516485;B_loss_coord=10:46109534-48312291|10:46416327-47756284|10:46943378-47742094,10:46109534-48312291|10:46416327-47756284|10:46931470-47201116|10:46943378-47742094,10:46109534-48312291|10:46416327-47756284|10:46931470-47201116|10:46943378-47742094,10:46109534-48312291|10:46416327-47756284|10:46931470-47201116|10:46943378-47742094,10:46109534-48312291|10:46416327-47756284|10:46931470-47201116|10:46943378-47742094,10:46109534-48312291|10:46416327-47756284|10:46931470-47201116|10:46943378-47742094|10:47150446-47326492,10:46109534-48312291|10:46416327-47756284|10:46931470-47201116|10:46943378-47742094|10:47150446-47326492,10:46109534-48312291|10:46416327-47756284|10:46943378-47742094|10:47150446-47326492,10:46109534-48312291|10:46416327-47756284|10:46943378-47742094,10:46109534-48312291|10:46416327-47756284|10:46943378-47742094|chr10:47531022-47599037|10:47531023-47599037|10:47531023-47599037|10:47537369-47652803|chr10:47582000-47654100|10:47582000-47654100|chr10:47585000-47706000;B_loss_AFmax=0.026,0.026,0.026,0.026,0.026,0.04,0.04,0.04,0.026,0.0318;B_inv_source=IMH;B_inv_coord=10:46257220-51811936;B_inv_AFmax=0.0179;po_B_gain_someG_source=10:46416327-47756284_DDD:32922|10:46931463-47389066_DDD:32936|10:46943378-47136996_dgv22e55|10:46966535-48298893_dgv221e212|10:46976293-47023561_1000g|10:46976293-47023561_1000g|chr10:47007970-47086710_dbVar|10:47007971-47086710_1000g|10:47007971-47086710_dgv117e214|chr10:47089972-47150813_dbVar|10:47089973-47150813_1000g|10:47089973-47150813_dgv118e214|chr10:47132970-47134018_dbVar|chr10:47150450-47160300_dbVar|chr10:47208000-47303000_dbVar|chr10:47308000-47315100_dbVar|10:47321000-47396000_gnomAD-SV_v2.1_DUP_10_29724|chr10:47370500-47380000_dbVar|chr10:47371250-47401275_dbVar|10:47383858-47395064_1000g...;po_B_gain_someG_coord=10:46109534-48312291_nsv516485|10:46923704-47138897_DDD:32934|10:46931470-47201116_DDD:32937|10:46943378-47742094_dgv24e55|chr10:46976292-47023561_dbVar|10:46976293-47023561_1000g|10:46976293-47023561_dgv116e214|10:47007971-47086710_1000g|10:47007971-47086710_1000g|chr10:47048634-47429105_dbVar|10:47089973-47150813_1000g|10:47089973-47150813_1000g|chr10:47122885-47123070_dbVar|chr10:47142102-47170473_dbVar|10:47150450-47160300_gnomAD-SV_v2.1_DUP_10_29721|chr10:47216500-47271200_dbVar|chr10:47321000-47396000_dbVar|chr10:47332750-47373000_dbVar|10:47370500-47380000_gnomAD-SV_v2.1_DUP_10_29725|chr10:47383857-47395064_dbVar...;po_B_loss_someG_source=10:46416327-47756284_DDD:32922|10:46943378-47742094_dgv23e55|chr10:47009185-47009299_dbVar|10:47036095-47036306_IMH|chr10:47083158-47083218_dbVar|10:47083161-47083233_gnomAD-SV_v2.1_DEL_10_109994|chr10:47088385-47088703_dbVar|chr10:47120109-47120186_dbVar|chr10:47148773-47150391_dbVar|10:47148774-47150391_esv3623121|10:47172000-47177000_HI40:ISCA-46432|10:47177700-47182800_HI40:ISCA-46433|10:47191200-47201400_HI40:ISCA-46434|10:47211300-47216400_HI40:ISCA-46435|chr10:47241600-47251000_dbVar|10:47252000-47271150_gnomAD-SV_v2.1_DEL_10_110003|10:47275450-47281000_gnomAD-SV_v2.1_DEL_10_110005|10:47301450-47315100_gnomAD-SV_v2.1_DEL_10_110006|chr10:47531022-47599037_dbVar|10:47531023-47599037_esv3623125...;po_B_loss_someG_coord=10:46109534-48312291_nsv516485|10:46931470-47201116_DDD:32937|chr10:47003380-47003486_dbVar|10:47009185-47009299_gnomAD-SV_v2.1_DEL_10_109993|10:47036095-47036306_esv2665191|chr10:47083161-47083233_dbVar|chr10:47088375-47088703_dbVar|10:47088385-47088703_gnomAD-SV_v2.1_DEL_10_109995|chr10:47141536-47141802_dbVar|10:47148774-47150391_1000g|10:47150446-47326492_esv2663732|chr10:47172000-47177000_dbVar|chr10:47177700-47182800_dbVar|chr10:47191200-47201400_dbVar|chr10:47211300-47216400_dbVar|chr10:47252000-47271150_dbVar|chr10:47275450-47281000_dbVar|chr10:47301450-47315100_dbVar|chr10:47383857-47395064_dbVar|10:47531023-47599037_1000g...;Cosmic_ID=1006588|1013972|1014290|1014377|166480|629812|2127723|1120842|1548870|2486704|893290|2101919|2312178|1979007|2772902|665181|2077786|1955414|1970979|1407950|3025640|689917|620606|620951|963298|867976|855138|630315|815728|632314|633012|1907|922644|922770|787189|694337|647741|657969|649813|1019156|678322|1019393|1021179|1021180|671781|661728|1066321|1066604|1135949|1796413|670461|...;Cosmic_mut_typ=loss|gain;GC_content_left=0.415;GC_content_right=0.5;Repeat_coord_left=10:46976181-46976437;Repeat_type_left=LTR78;SegDup_right=10:47590101-47594293|10:47590101-47594293;DDD_HI_percent=89.5,82.54,66.73,.,.,75.66,89.5,.,.,.;ExAC_synZ=-2.98697085794417,-3.10473776124822,-2.98697085794417,.,.,.,.,.,.,.;ExAC_misZ=-2.90416172871297,-3.32991530871711,-2.90416172871297,.,.,.,.,.,.,.;NCBI_gene_ID=.,9721,5540,643650,728643,728113,100132929,653259,439965,100996567;LOEUF_bin=8,8,8,.,.,9,.,.,.,.;GnomAD_pLI=0.33439,3.8557e-06,8.2144e-07,.,.,0.33439,.,.,.,.;ExAC_pLI=0.00029629,0.00029629,6.116e-09,.,.,.,.,.,.,.;AnnotSV_ranking_score=-1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2D_(cf_B_gain_source,_-1.00)|2B_(cf_po_P_gain_source,_TS,_OMIM_morbid,_+0.00)|2E_(cf_B_gain_source,_+0.00)|2L_(ANTXRLP1,_+0.00)|3A_(9_genes,_+0.00)|5F_(+0.00);ACMG_class=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1;END=47590995;SVLEN=614837 GT 1/. -11 66287089 . C . PASS AnnotSV_ID=11_66287089_66288847_DEL_1;SV_start=66287089;Biologist_annotation=BBS1_internal_frameshift;Biologist_ranking=Pathogenic;Annotation_mode=full,split,split;CytoBand=q13.2;Gene_name=BBS1|ZDHHC24,BBS1,ZDHHC24;Closest_left=DPP3;Closest_right=ACTN3;Gene_count=2;Tx=.,NM_024649,NM_001348571;Tx_version=.,5,2;Tx_start=.,66278105,66288095;Tx_end=.,66301069,66313519;Overlapped_tx_length=.,1759,752;Overlapped_CDS_length=.,238,0;Overlapped_CDS_percent=.,13,0;Frameshift=.,yes,no;Exon_count=.,17,5;Location=.,exon8-intron9,exon5-txEnd;Location2=.,CDS,3'UTR;Dist_nearest_SS=.,0,90;Nearest_SS_type=.,5',3';Intersect_start=.,66287088,66288095;Intersect_end=.,66288847,66288847;RE_gene=BANF1_(morbid/RE=EA_enhancer)|C11orf80_(morbid/RE=EA_enhancer)|CATSPER1_(morbid/RE=EA_enhancer)|CTSF_(morbid/RE=EA_enhancer)|FIBP_(morbid/RE=EA_enhancer)|KLC2_(morbid/RE=EA_enhancer)|PACS1_(morbid/RE=EA_enhancer)|PC_(morbid/RE=EA_enhancer)|SF3B2_(morbid/RE=EA_enhancer)|SPTBN2_(morbid/RE=EA_enhancer)|TMEM151A_(morbid/RE=EA_enhancer);po_P_gain_source=dbVar:nssv15171978|dbVar:nssv15158476|dbVar:nssv15150306|nssv15150623|dbVar:nssv17976763|dbVar:nssv15150659|dbVar:nssv15605814|dbVar:nssv15146474|dbVar:nssv17973682;po_P_gain_coord=11:70865-134938470|11:198511-134934063|11:230617-134938470|11:32799482-134938470|11:64501920-67129258|11:65138977-67574402|11:65960974-67658241|11:66281868-66288857;po_P_gain_percent=0.00|0.00|0.00|0.00|0.07|0.07|0.10|25.16;po_P_loss_phen=Bardet-Biedl_syndrome_1,_209900_(3)_Digenic_recessive,AR;po_P_loss_source=dbVar:nssv16867095|dbVar:nssv15148225|dbVar:nssv15129970|dbVar:nssv18792809|morbid:BBS1|dbVar:nssv16214536|dbVar:nssv17171795|dbVar:nssv16212285|dbVar:nssv17976607|dbVar:nssv17974991|dbVar:nssv17172605|dbVar:nssv16212781|dbVar:nssv18787680|dbVar:nssv15128612|dbVar:nssv17172606;po_P_loss_coord=11:11835570-118373112|11:65508903-67473140|11:66274841-66292574|11:66274871-66292647|11:66278106-66301069|11:66278112-66291373|11:66278112-66299528|11:66278122-66291682|11:66278712-66293593|11:66283002-66287229|11:66283155-66287229|11:66287079-66288857|11:66287079-66291105|11:66288384-66293649|11:66288722-66293683;po_P_loss_percent=0.00|0.09|9.92|9.89|7.66|13.26|8.21|12.97|11.82|3.33|3.46|98.88|43.68|8.81|2.54;P_snvindel_nb=11,11,4;P_snvindel_phen=BBS1-related_condition|Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|Retinal_dystrophy;B_inv_source=IMH;B_inv_coord=11:1642920-71249653|11:49233128-89368291|11:49425032-89029881|11:49425381-89029675|11:49580506-88798755|11:49652145-88728247|11:50025478-108975588;B_inv_AFmax=0.432;po_B_gain_someG_coord=chr11:66272212-66288041_dbVar;GC_content_left=0.565;GC_content_right=0.545;DDD_HI_percent=67.28,40.7,67.28;ExAC_delZ=-0.648300458519823,-0.648300458519823,-1.23986898178133;ExAC_dupZ=0.663432885116562,0.663432885116562,0.616417349113344;ExAC_cnvZ=0.155145712015149,0.155145712015149,-0.188374414893838;ExAC_synZ=0.635599914039232,0.0819191978639822,0.635599914039232;ExAC_misZ=1.04727080312339,0.0377121632347663,1.04727080312339;GenCC_disease=.,Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|ciliopathy,.;GenCC_moi=.,AR,.;GenCC_classification=.,Definitive|Strong|Supportive,.;GenCC_pmid=.,10577921|10577922|12118255|12524598|12837689|18032602|20177705|20301537[PMID]|20498079|23143442,.;NCBI_gene_ID=.,582,254359;OMIM_ID=209901,209901,.;OMIM_phenotype=.,Bardet-Biedl_syndrome_1,_209900_(3)_Digenic_recessive,AR,.;OMIM_inheritance=.,Digenic_recessive,AR,.;OMIM_morbid=yes,yes,.;LOEUF_bin=5,5,7;GnomAD_pLI=0.0004208,3.4063e-12,0.0004208;ExAC_pLI=0.0061403,1.7787e-07,0.0061403;AnnotSV_ranking_score=0.9;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2E-1_(BBS1,_+0.90)|3A_(2_genes,_+0.00)|5F_(+0.00);ACMG_class=4,full=4,full=4;END=66288847;SVLEN=-1758 GT 1/. +11 66287089 . C . PASS AnnotSV_ID=11_66287089_66288847_DEL_1;SV_start=66287089;Biologist_annotation=BBS1_internal_frameshift;Biologist_ranking=Pathogenic;Annotation_mode=full,split,split;CytoBand=q13.2;Gene_name=BBS1|ZDHHC24,BBS1,ZDHHC24;Closest_left=DPP3;Closest_right=ACTN3;Gene_count=2;Tx=.,NM_024649,NM_001348571;Tx_version=.,5,2;Tx_start=.,66278105,66288095;Tx_end=.,66301069,66313519;Overlapped_tx_length=.,1759,752;Overlapped_CDS_length=.,238,0;Overlapped_CDS_percent=.,13,0;Frameshift=.,yes,no;Exon_count=.,17,5;Location=.,exon8-intron9,exon5-txEnd;Location2=.,CDS,3'UTR;Dist_nearest_SS=.,0,90;Nearest_SS_type=.,5',3';Intersect_start=.,66287088,66288095;Intersect_end=.,66288847,66288847;RE_gene=BANF1_(morbid/RE=EA_enhancer)|C11orf80_(morbid/RE=EA_enhancer)|CATSPER1_(morbid/RE=EA_enhancer)|CTSF_(morbid/RE=EA_enhancer)|FIBP_(morbid/RE=EA_enhancer)|KLC2_(morbid/RE=EA_enhancer)|PACS1_(morbid/RE=EA_enhancer)|PC_(morbid/RE=EA_enhancer)|SF3B2_(morbid/RE=EA_enhancer)|SPTBN2_(morbid/RE=EA_enhancer)|TMEM151A_(morbid/RE=EA_enhancer);po_P_gain_source=dbVar:nssv15171978|dbVar:nssv15158476|dbVar:nssv15150306|nssv15150623|dbVar:nssv17976763|dbVar:nssv15150659|dbVar:nssv15605814|dbVar:nssv15146474|dbVar:nssv17973682;po_P_gain_coord=11:70865-134938470|11:198511-134934063|11:230617-134938470|11:32799482-134938470|11:64501920-67129258|11:65138977-67574402|11:65960974-67658241|11:66281868-66288857;po_P_gain_percent=0.00|0.00|0.00|0.00|0.07|0.07|0.10|25.16;po_P_loss_phen=Bardet-Biedl_syndrome_1,_209900_(3)_Digenic_recessive,AR;po_P_loss_source=dbVar:nssv16867095|dbVar:nssv15148225|dbVar:nssv15129970|dbVar:nssv18792809|morbid:BBS1|dbVar:nssv16214536|dbVar:nssv17171795|dbVar:nssv16212285|dbVar:nssv17976607|dbVar:nssv17974991|dbVar:nssv17172605|dbVar:nssv16212781|dbVar:nssv18787680|dbVar:nssv15128612|dbVar:nssv17172606;po_P_loss_coord=11:11835570-118373112|11:65508903-67473140|11:66274841-66292574|11:66274871-66292647|11:66278106-66301069|11:66278112-66291373|11:66278112-66299528|11:66278122-66291682|11:66278712-66293593|11:66283002-66287229|11:66283155-66287229|11:66287079-66288857|11:66287079-66291105|11:66288384-66293649|11:66288722-66293683;po_P_loss_percent=0.00|0.09|9.92|9.89|7.66|13.26|8.21|12.97|11.82|3.33|3.46|98.88|43.68|8.81|2.54;P_snvindel_nb=11,11,4;P_snvindel_phen=BBS1-related_condition|Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|Retinal_dystrophy;B_inv_source=IMH;B_inv_coord=11:1642920-71249653|11:49233128-89368291|11:49425032-89029881|11:49425381-89029675|11:49580506-88798755|11:49652145-88728247|11:50025478-108975588;B_inv_AFmax=0.432;po_B_gain_someG_coord=chr11:66272212-66288041_dbVar;GC_content_left=0.565;GC_content_right=0.545;DDD_HI_percent=67.28,40.7,67.28;ExAC_delZ=-0.648300458519823,-0.648300458519823,-1.23986898178133;ExAC_dupZ=0.663432885116562,0.663432885116562,0.616417349113344;ExAC_cnvZ=0.155145712015149,0.155145712015149,-0.188374414893838;ExAC_synZ=0.635599914039232,0.0819191978639822,0.635599914039232;ExAC_misZ=1.04727080312339,0.0377121632347663,1.04727080312339;GenCC_disease=.,Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_1,.;GenCC_moi=.,AR,.;GenCC_classification=.,Definitive|Strong|Supportive,.;GenCC_pmid=.,10577921|10577922|12118255|12524598|12837689|18032602|20177705|20301537[PMID]|20498079|23143442,.;NCBI_gene_ID=.,582,254359;OMIM_ID=209901,209901,.;OMIM_phenotype=.,Bardet-Biedl_syndrome_1,_209900_(3)_Digenic_recessive,AR,.;OMIM_inheritance=.,Digenic_recessive,AR,.;OMIM_morbid=yes,yes,.;LOEUF_bin=5,5,7;GnomAD_pLI=0.0004208,3.4063e-12,0.0004208;ExAC_pLI=0.0061403,1.7787e-07,0.0061403;AnnotSV_ranking_score=0.9;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2E-1_(BBS1,_+0.90)|3A_(2_genes,_+0.00)|5F_(+0.00);ACMG_class=4,full=4,full=4;END=66288847;SVLEN=-1758 GT 1/. 12 63935482 . C . PASS AnnotSV_ID=12_63935482_64130626_DEL_1;SV_start=63935482;Biologist_annotation=DPY19L2_(both_DEL_and_DUP_LCR_mediated,_precise_breakpoints);Biologist_ranking=Pathogenic;Annotation_mode=full,split;CytoBand=q14.2;Gene_name=DPY19L2;Closest_left=AVPR1A;Closest_right=RXYLT1;Gene_count=1;Tx=.,NM_173812;Tx_version=.,5;Tx_start=.,63952692;Tx_end=.,64062273;Overlapped_tx_length=.,109581;Overlapped_CDS_length=.,2277;Overlapped_CDS_percent=.,100;Frameshift=.,no;Exon_count=.,22;Location=.,txStart-txEnd;Location2=.,5'UTR-3'UTR;Intersect_start=.,63952692;Intersect_end=.,64062273;RE_gene=RXYLT1_(morbid/RE=GH_enhancer)|TBK1_(morbid/RE=EA_enhancer);P_loss_phen=Spermatogenic_failure_9,_613958_(3)_AR;P_loss_source=dbVar:nssv15119764|dbVar:nssv16213932|morbid:DPY19L2,dbVar:nssv16213932|morbid:DPY19L2;P_loss_coord=12:63952693-64062273|12:63952694-64062354|12:63989747-63989817,12:63952693-64062273|12:63989747-63989817;po_P_gain_source=dbVar:nssv15161620|dbVar:nssv15161414|nssv15161422|dbVar:nssv15171852|dbVar:nssv15161798|dbVar:nssv15171855;po_P_gain_coord=12:2-133851895|12:173788-133777902|12:191620-133777645|12:282466-133773393|12:621221-133779118;po_P_gain_percent=0.15|0.15|0.15|0.15|0.15;po_P_loss_source=dbVar:nssv15136921;po_P_loss_coord=12:61300933-66961857;po_P_loss_percent=3.45;P_snvindel_nb=1;P_snvindel_phen=Spermatogenic_failure_9;B_gain_source=.,1000g|DDD:38888|dbVar|esv3629757|gnomAD-SV_v2.1_DUP_12_34997;B_gain_coord=.,chr12:63936386-64131550|12:63936386-64131550|chr12:63939158-64117235|12:63939159-64117235|12:63939159-64117235|12:63940549-64135811|chr12:63950451-64144961;B_gain_AFmax=.,0.0257;B_loss_source=.,dbVar;B_loss_coord=.,chr12:63923277-64119251|chr12:63939158-64117235|chr12:63946269-64141505;B_loss_AFmax=.,0.01;B_inv_source=IMH;B_inv_coord=12:11501488-96031049|12:40933234-113477160;B_inv_AFmax=0.107;po_B_gain_someG_source=chr12:63936386-64131550_dbVar|chr12:63939158-64117235_dbVar|12:63939159-64117235_esv3629757|chr12:63944788-63947354_dbVar|chr12:63965589-63975135_dbVar|chr12:63988950-64000500_dbVar|chr12:64010193-64011854_dbVar|chr12:64011854-64015265_dbVar|12:64020291-64020367_DDD:38896|12:64069043-64136500_dgv280e214|chr12:64077066-64077827_dbVar|chr12:64078873-64107227_dbVar|chr12:64117634-64120295_dbVar|chr12:64129133-64134963_dbVar|chr12:63936386-64131550_dbVar|chr12:63939158-64117235_dbVar|12:63939159-64117235_esv3629757|chr12:63944788-63947354_dbVar|chr12:63965589-63975135_dbVar|chr12:63988950-64000500_dbVar...;po_B_gain_someG_coord=chr12:63935000-63948000_dbVar|12:63936386-64131550_gnomAD-SV_v2.1_DUP_12_34997|12:63939159-64117235_1000g|12:63940549-64135811_DDD:38888|chr12:63950451-64144961_dbVar|chr12:63965589-64010193_dbVar|chr12:63998600-64077000_dbVar|chr12:64010193-64015265_dbVar|chr12:64011854-64021530_dbVar|chr12:64061735-64073704_dbVar|chr12:64073704-64076066_dbVar|chr12:64078873-64079823_dbVar|chr12:64089900-64096000_dbVar|chr12:64125000-64130000_dbVar|chr12:63935000-63948000_dbVar|12:63936386-64131550_gnomAD-SV_v2.1_DUP_12_34997|12:63939159-64117235_1000g|12:63940549-64135811_DDD:38888|chr12:63950451-64144961_dbVar|chr12:63965589-64010193_dbVar...;po_B_loss_someG_source=chr12:63936000-63986000_dbVar|chr12:63946269-64141505_dbVar|chr12:63946732-63946956_dbVar|12:63946733-63946956_IMH|chr12:63959839-63959910_dbVar|12:64020291-64020367_DDD:38896|chr12:64069257-64069348_dbVar|chr12:64076528-64076585_dbVar|chr12:64116494-64116881_dbVar|chr12:63923277-64119251_dbVar|chr12:63939158-64117235_dbVar|12:63946730-63946956_esv2662353|12:63946732-63946956_gnomAD-SV_v2.1_DEL_12_129265|chr12:63950172-63950241_dbVar|chr12:64015848-64018740_dbVar|chr12:64065000-64130000_dbVar|chr12:64069869-64069961_dbVar|chr12:64103835-64106468_dbVar|chr12:64122000-64127000_dbVar;po_B_loss_someG_coord=chr12:63923277-64119251_dbVar|chr12:63939158-64117235_dbVar|12:63946730-63946956_esv2662353|12:63946732-63946956_gnomAD-SV_v2.1_DEL_12_129265|chr12:63950172-63950241_dbVar|chr12:64015848-64018740_dbVar|chr12:64065000-64130000_dbVar|chr12:64069869-64069961_dbVar|chr12:64103835-64106468_dbVar|chr12:64122000-64127000_dbVar|chr12:63936000-63986000_dbVar|chr12:63946269-64141505_dbVar|chr12:63946732-63946956_dbVar|12:63946733-63946956_IMH|chr12:63959839-63959910_dbVar|12:64020291-64020367_DDD:38896|chr12:64069257-64069348_dbVar|chr12:64076528-64076585_dbVar|chr12:64116494-64116881_dbVar;Cosmic_ID=350981|2692928|1491350|1087307|2792491|2353750|2965163|1209828|1619448|1883558|2814116|1194770|2089432|31158|2419380|119292|287527|981327|1267803|1760195|174035|1054499|1054500|693309|1328263|1881832|2850280,1267803|1760195|1054499|1054500;Cosmic_mut_typ=loss|gain;GC_content_left=0.53;GC_content_right=0.43;Repeat_coord_left=12:63935369-63935656;Repeat_type_left=AluSq2;Repeat_coord_right=12:64130409-64130696;Repeat_type_right=AluSq2;SegDup_left=12:63923419-63951619;SegDup_right=12:64119249-64146247;DDD_HI_percent=81.13;ExAC_synZ=1.02618176351368;ExAC_misZ=1.66555804568279;GenCC_disease=.,male_infertility_due_to_globozoospermia|spermatogenic_failure_9;GenCC_moi=.,AR;GenCC_classification=.,Strong|Supportive;GenCC_pmid=.,17008355|21397063|21397063[PMID]_22571172[PMID]|21397064|22627659|22653751|25755131|25780569;NCBI_gene_ID=.,283417;OMIM_ID=613893;OMIM_phenotype=.,Spermatogenic_failure_9,_613958_(3)_AR;OMIM_inheritance=.,AR;OMIM_morbid=yes;LOEUF_bin=4;GnomAD_pLI=1.0936e-13;ExAC_pLI=7.0294e-05;AnnotSV_ranking_score=1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2A_(cf_P_loss_source,_+1.00)|3A_(1_gene,_+0.00)|5F_(+0.00);ACMG_class=5,full=5;END=64130626;SVLEN=-195144 GT 1/. 12 63935482 . C . PASS AnnotSV_ID=12_63935482_64130626_DUP_1;SV_start=63935482;Biologist_annotation=DPY19L2_(both_DEL_and_DUP_LCR_mediated,_precise_breakpoints);Biologist_ranking=Pathogenic;Annotation_mode=full,split;CytoBand=q14.2;Gene_name=DPY19L2;Closest_left=AVPR1A;Closest_right=RXYLT1;Gene_count=1;Tx=.,NM_173812;Tx_version=.,5;Tx_start=.,63952692;Tx_end=.,64062273;Overlapped_tx_length=.,109581;Overlapped_CDS_length=.,2277;Overlapped_CDS_percent=.,100;Frameshift=.,no;Exon_count=.,22;Location=.,txStart-txEnd;Location2=.,5'UTR-3'UTR;Intersect_start=.,63952692;Intersect_end=.,64062273;RE_gene=RXYLT1_(morbid/RE=GH_enhancer)|TBK1_(morbid/RE=EA_enhancer);P_loss_phen=Spermatogenic_failure_9,_613958_(3)_AR;P_loss_source=dbVar:nssv15119764|dbVar:nssv16213932|morbid:DPY19L2,dbVar:nssv16213932|morbid:DPY19L2;P_loss_coord=12:63952693-64062273|12:63952694-64062354|12:63989747-63989817,12:63952693-64062273|12:63989747-63989817;po_P_gain_source=dbVar:nssv15161620|dbVar:nssv15161414|nssv15161422|dbVar:nssv15171852|dbVar:nssv15161798|dbVar:nssv15171855;po_P_gain_coord=12:2-133851895|12:173788-133777902|12:191620-133777645|12:282466-133773393|12:621221-133779118;po_P_gain_percent=0.15|0.15|0.15|0.15|0.15;po_P_loss_source=dbVar:nssv15136921;po_P_loss_coord=12:61300933-66961857;po_P_loss_percent=3.45;P_snvindel_nb=1;P_snvindel_phen=Spermatogenic_failure_9;B_gain_source=.,1000g|DDD:38888|dbVar|esv3629757|gnomAD-SV_v2.1_DUP_12_34997;B_gain_coord=.,chr12:63936386-64131550|12:63936386-64131550|chr12:63939158-64117235|12:63939159-64117235|12:63939159-64117235|12:63940549-64135811|chr12:63950451-64144961;B_gain_AFmax=.,0.0257;B_loss_source=.,dbVar;B_loss_coord=.,chr12:63923277-64119251|chr12:63939158-64117235|chr12:63946269-64141505;B_loss_AFmax=.,0.01;B_inv_source=IMH;B_inv_coord=12:11501488-96031049|12:40933234-113477160;B_inv_AFmax=0.107;po_B_gain_someG_source=chr12:63936386-64131550_dbVar|chr12:63939158-64117235_dbVar|12:63939159-64117235_esv3629757|chr12:63944788-63947354_dbVar|chr12:63965589-63975135_dbVar|chr12:63988950-64000500_dbVar|chr12:64010193-64011854_dbVar|chr12:64011854-64015265_dbVar|12:64020291-64020367_DDD:38896|12:64069043-64136500_dgv280e214|chr12:64077066-64077827_dbVar|chr12:64078873-64107227_dbVar|chr12:64117634-64120295_dbVar|chr12:64129133-64134963_dbVar|chr12:63936386-64131550_dbVar|chr12:63939158-64117235_dbVar|12:63939159-64117235_esv3629757|chr12:63944788-63947354_dbVar|chr12:63965589-63975135_dbVar|chr12:63988950-64000500_dbVar...;po_B_gain_someG_coord=chr12:63935000-63948000_dbVar|12:63936386-64131550_gnomAD-SV_v2.1_DUP_12_34997|12:63939159-64117235_1000g|12:63940549-64135811_DDD:38888|chr12:63950451-64144961_dbVar|chr12:63965589-64010193_dbVar|chr12:63998600-64077000_dbVar|chr12:64010193-64015265_dbVar|chr12:64011854-64021530_dbVar|chr12:64061735-64073704_dbVar|chr12:64073704-64076066_dbVar|chr12:64078873-64079823_dbVar|chr12:64089900-64096000_dbVar|chr12:64125000-64130000_dbVar|chr12:63935000-63948000_dbVar|12:63936386-64131550_gnomAD-SV_v2.1_DUP_12_34997|12:63939159-64117235_1000g|12:63940549-64135811_DDD:38888|chr12:63950451-64144961_dbVar|chr12:63965589-64010193_dbVar...;po_B_loss_someG_source=chr12:63936000-63986000_dbVar|chr12:63946269-64141505_dbVar|chr12:63946732-63946956_dbVar|12:63946733-63946956_IMH|chr12:63959839-63959910_dbVar|12:64020291-64020367_DDD:38896|chr12:64069257-64069348_dbVar|chr12:64076528-64076585_dbVar|chr12:64116494-64116881_dbVar|chr12:63923277-64119251_dbVar|chr12:63939158-64117235_dbVar|12:63946730-63946956_esv2662353|12:63946732-63946956_gnomAD-SV_v2.1_DEL_12_129265|chr12:63950172-63950241_dbVar|chr12:64015848-64018740_dbVar|chr12:64065000-64130000_dbVar|chr12:64069869-64069961_dbVar|chr12:64103835-64106468_dbVar|chr12:64122000-64127000_dbVar;po_B_loss_someG_coord=chr12:63923277-64119251_dbVar|chr12:63939158-64117235_dbVar|12:63946730-63946956_esv2662353|12:63946732-63946956_gnomAD-SV_v2.1_DEL_12_129265|chr12:63950172-63950241_dbVar|chr12:64015848-64018740_dbVar|chr12:64065000-64130000_dbVar|chr12:64069869-64069961_dbVar|chr12:64103835-64106468_dbVar|chr12:64122000-64127000_dbVar|chr12:63936000-63986000_dbVar|chr12:63946269-64141505_dbVar|chr12:63946732-63946956_dbVar|12:63946733-63946956_IMH|chr12:63959839-63959910_dbVar|12:64020291-64020367_DDD:38896|chr12:64069257-64069348_dbVar|chr12:64076528-64076585_dbVar|chr12:64116494-64116881_dbVar;Cosmic_ID=350981|2692928|1491350|1087307|2792491|2353750|2965163|1209828|1619448|1883558|2814116|1194770|2089432|31158|2419380|119292|287527|981327|1267803|1760195|174035|1054499|1054500|693309|1328263|1881832|2850280,1267803|1760195|1054499|1054500;Cosmic_mut_typ=loss|gain;GC_content_left=0.53;GC_content_right=0.43;Repeat_coord_left=12:63935369-63935656;Repeat_type_left=AluSq2;Repeat_coord_right=12:64130409-64130696;Repeat_type_right=AluSq2;SegDup_left=12:63923419-63951619;SegDup_right=12:64119249-64146247;DDD_HI_percent=81.13;ExAC_synZ=1.02618176351368;ExAC_misZ=1.66555804568279;GenCC_disease=.,male_infertility_due_to_globozoospermia|spermatogenic_failure_9;GenCC_moi=.,AR;GenCC_classification=.,Strong|Supportive;GenCC_pmid=.,17008355|21397063|21397063[PMID]_22571172[PMID]|21397064|22627659|22653751|25755131|25780569;NCBI_gene_ID=.,283417;OMIM_ID=613893;OMIM_phenotype=.,Spermatogenic_failure_9,_613958_(3)_AR;OMIM_inheritance=.,AR;OMIM_morbid=yes;LOEUF_bin=4;GnomAD_pLI=1.0936e-13;ExAC_pLI=7.0294e-05;AnnotSV_ranking_score=0;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2B_(cf_po_P_gain_source,_TS,_OMIM_morbid,_+0.00)|2G_(cf_po_B_gain_someG_source,_+0.00)|2H-2_(DPY19L2,_+0.00)|3A_(1_gene,_+0.00)|5F_(+0.00);ACMG_class=3,full=3;END=64130626;SVLEN=195144 GT 1/. 14 22323880 . T . PASS AnnotSV_ID=14_22323880_22952279_DEL_1;SV_start=22323880;Biologist_ranking=Benign;Annotation_mode=full,split;CytoBand=q11.2;Gene_name=TRD-AS1;Closest_left=OR4E1;Closest_right=LINC02332;Gene_count=1;Tx=.,NR_148361;Tx_version=.,1;Tx_start=.,22847807;Tx_end=.,22951948;Overlapped_tx_length=.,104141;Overlapped_CDS_length=.,0;Overlapped_CDS_percent=.,0;Frameshift=.,no;Exon_count=.,5;Location=.,txStart-txEnd;Location2=.,UTR;Intersect_start=.,22847807;Intersect_end=.,22951948;RE_gene=CEBPE_(morbid/RE=GH_promoter_enhancer)|CHD8_(HI=3/morbid/RE=GH_enhancer+GH_promoter_enhancer)|PABPN1_(morbid/RE=GH_enhancer)|SLC7A7_(morbid/RE=ABC_enhancer+EA_enhancer+GH_enhancer+GH_promoter_enhancer)|SUPT16H_(morbid/RE=GH_enhancer+GH_promoter_enhancer);po_P_gain_source=dbVar:nssv15162475|dbVar:nssv15606090|dbVar:nssv15161908|dbVar:nssv15162476|dbVar:nssv15161629|dbVar:nssv15139565|dbVar:nssv15141262|dbVar:nssv15146564|dbVar:nssv15146758|dbVar:nssv16207193|dbVar:nssv17976958|dbVar:nssv15148269|dbVar:nssv15161107|nssv15161424|dbVar:nssv15161067|dbVar:nssv15132618|dbVar:nssv15134537|dbVar:nssv17955846|dbVar:nssv16091748;po_P_gain_coord=14:19000423-107289053|14:19100683-28730087|14:19280734-107287663|14:19327824-107287663|14:19794562-107234280|14:19794562-27768254|14:19794562-34049214|14:20468771-39453619|14:20490853-44562875|14:20511673-44829030|14:20511673-47481203|14:20511673-49111245|14:20511674-107285437|14:20619309-107263478|14:20619309-23911404|14:20880747-25487326|14:20925966-23649548|14:21717094-24027220;po_P_gain_percent=0.71|6.53|0.71|0.71|0.72|7.88|4.41|3.31|2.61|2.58|2.33|2.20|0.72|0.73|19.09|13.64|23.07|27.20;po_P_loss_source=dbVar:nssv15119819|dbVar:nssv15145699|dbVar:nssv18330314|dbVar:nssv16208379|dbVar:nssv17976070;po_P_loss_coord=14:20223409-23210490|14:20665105-45754005|14:20690197-23114522|14:21143934-23297667|14:21162264-50713602;po_P_loss_percent=21.04|2.50|25.92|29.18|2.13;B_gain_source=TS40:ISCA-37476,TS40:ISCA-37476|dgv594e212|dgv598e212;B_gain_coord=14:22111110-23021097,14:22111110-23021097|14:22420175-22995788|14:22558879-22977816;B_gain_AFmax=.,0.02;B_loss_source=HI40:ISCA-37476,DDD:42190|HI40:ISCA-37476|dgv599e212;B_loss_coord=14:22111110-23021097,14:22111110-23021097|14:22549070-22959340|14:22558879-22995788;B_loss_AFmax=.,0.0107;po_B_gain_someG_source=14:22111110-23021097_TS40:ISCA-37476|14:22420175-22995788_dgv594e212|14:22558879-22977816_dgv598e212|chr14:22712776-22714043_dbVar|14:22824113-22824253_IMH|chr14:22883062-22883533_dbVar|chr14:22902951-22903446_dbVar|chr14:22948087-22949258_dbVar|chr14:22950998-23140000_dbVar;po_B_gain_someG_coord=chr14:22095569-22713973_dbVar|chr14:22273689-22404030_dbVar|chr14:22535580-22536565_dbVar|chr14:22576716-22576815_dbVar|chr14:22780292-22782161_dbVar|chr14:22881495-22883533_dbVar|chr14:22898270-22898720_dbVar|chr14:22917975-22918975_dbVar|chr14:22948458-22949258_dbVar;po_B_loss_someG_source=chr14:22203999-22380000_dbVar|chr14:22377253-22379001_dbVar|chr14:22386251-22387140_dbVar|chr14:22401118-22401214_dbVar|chr14:22451362-22451480_dbVar|14:22506096-22519924_dgv596e212|chr14:22522033-22522131_dbVar|chr14:22557093-22558668_dbVar|chr14:22566919-22569163_dbVar|chr14:22578988-22580660_dbVar|chr14:22582707-22583756_dbVar|14:22582708-22583756_DDD:42194|14:22582708-22583756_esv2663069|chr14:22592792-22593350_dbVar|chr14:22621082-22623586_dbVar|chr14:22650745-22651552_dbVar|chr14:22690248-22693574_dbVar|14:22740309-22923239_esv3633740|chr14:22753195-22755692_dbVar|chr14:22763326-22765409_dbVar...;po_B_loss_someG_coord=14:22111110-23021097_HI40:ISCA-37476|chr14:22375089-22375885_dbVar|chr14:22381501-22381559_dbVar|chr14:22392130-22392542_dbVar|chr14:22414330-22458520_dbVar|chr14:22501037-22503623_dbVar|chr14:22520154-22520348_dbVar|14:22549070-22959340_DDD:42190|14:22558879-22995788_dgv599e212|chr14:22570896-22575554_dbVar|chr14:22582165-22583029_dbVar|14:22582707-22583756_gnomAD-SV_v2.1_DEL_14_140471|14:22582708-22583756_IMH|14:22582714-22583762_esv3633739|chr14:22602805-22607184_dbVar|chr14:22629626-22629708_dbVar|chr14:22667031-22667110_dbVar|chr14:22731881-22732433_dbVar|chr14:22740393-22749648_dbVar|chr14:22760947-22761344_dbVar...;GC_content_left=0.25;GC_content_right=0.39;NCBI_gene_ID=.,105370401;AnnotSV_ranking_score=-1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2F/4O_(cf_B_loss_source,_-1.00)|2B_(cf_po_P_loss_source,_HI,_OMIM_morbid,_+0.00)|3A_(1_gene,_+0.00)|5F_(+0.00);ACMG_class=1,full=1;END=22952279;SVLEN=-628399 GT 1/. @@ -272,8 +272,8 @@ 16 32471626 . C . PASS AnnotSV_ID=16_32471626_33487672_DEL_1;SV_start=32471626;Biologist_ranking=Benign;Annotation_mode=full,split,split,split,split,split,split,split;CytoBand=p11.2;Gene_name=LOC107987382|TP53TG3|SLC6A10P|TP53TG3C|LOC105369266|TP53TG3B|LOC107987386,LOC107987382,TP53TG3,SLC6A10P,TP53TG3C,LOC105369266,TP53TG3B,LOC107987386;Closest_left=LOC390705;Closest_right=ENPP7P13;Gene_count=7;Tx=.,NR_171659,NM_016212,NR_003083,NM_001205259,NR_158162,NM_001099687,NR_171660;Tx_version=.,1,5,3,3,1,4,1;Tx_start=.,32611681,32684850,32888793,33205546,33215160,33262081,33298270;Tx_end=.,32626892,32687486,32896463,33208179,33232409,33264719,33319296;Overlapped_tx_length=.,15211,2636,7670,2633,17249,2638,21026;Overlapped_CDS_length=.,0,375,0,375,0,375,0;Overlapped_CDS_percent=.,0,100,0,100,0,100,0;Frameshift=.,no,no,no,no,no,no,no;Exon_count=.,8,2,9,2,6,2,5;Location=.,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd;Location2=.,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR;Intersect_start=.,32611681,32684850,32888793,33205546,33215160,33262081,33298270;Intersect_end=.,32626892,32687486,32896463,33208179,33232409,33264719,33319296;po_P_gain_source=dbVar:nssv15158812|dbVar:nssv15148703|dbVar:nssv15150639|nssv15151292|dbVar:nssv15158813|dbVar:nssv15158224|dbVar:nssv16216874|dbVar:nssv15126545|dbVar:nssv15133058|dbVar:nssv15126469;po_P_gain_coord=16:61452-90294632|16:69194-90274381|16:85882-90155062|16:88166-90163275|16:88166-90274695|16:5805002-34230001|16:24381954-33923059|16:30703234-35147508|16:31986099-90294753;po_P_gain_percent=1.13|1.13|1.13|1.13|1.13|3.57|10.65|22.86|1.74;po_P_loss_source=dbVar:nssv15141243;po_P_loss_coord=16:28826163-34375007;po_P_loss_percent=18.31;B_gain_source=DDD:47058|DDD:47062|dgv50e203,1000g|DDD:47058|DDD:47062|DDD:47063|DDD:47091|IMH|dbVar|dgv507e214|dgv50e203|dgv821e212|esv2421440,DDD:47058|DDD:47062|DDD:47063|IMH|dbVar|dgv50e203|dgv821e212|esv2421440,DDD:47058|DDD:47062|DDD:47063|IMH|dbVar|dgv50e203|dgv821e212,DDD:47058|DDD:47062|DDD:47113|IMH|dbVar|dgv50e203|dgv821e212,DDD:47058|DDD:47062|DDD:47113|IMH|dbVar|dgv50e203|dgv821e212,DDD:47058|DDD:47062|DDD:47113|DDD:47114|IMH|dbVar|dgv50e203|dgv821e212,DDD:47058|DDD:47062|DDD:47113|DDD:47114|DDD:47116|IMH|dgv50e203|dgv821e212;B_gain_coord=16:31749454-34012168|16:32055083-33851279|16:32123333-33664028,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:32129166-32904510|16:32257510-32714406|16:32345385-33344188|chr16:32471402-32942494|chr16:32490199-32627933|chr16:32490199-32942494|16:32511180-33912324|16:32589803-32684945|chr16:32603879-32651988|chr16:32611029-32642738|16:32611030-32642738|16:32611030-32642738|16:32611030-32642738,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:32129166-32904510|16:32257510-32714406|16:32345385-33344188|chr16:32471402-32942494|chr16:32490199-32942494|16:32511180-33912324|chr16:32651988-32942494,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:32129166-32904510|16:32345385-33344188|chr16:32471402-32942494|chr16:32490199-32942494|16:32511180-33912324|chr16:32651988-32942494,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:32345385-33344188|16:32511180-33912324|chr16:33106071-33292140|16:33204449-33378738,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:32345385-33344188|16:32511180-33912324|chr16:33106071-33292140|16:33204449-33378738,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:32345385-33344188|16:32511180-33912324|chr16:33106071-33292140|16:33204449-33378738|16:33230271-33739925,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:32345385-33344188|16:32511180-33912324|16:33204449-33378738|16:33230271-33739925|16:33270420-33827235;B_gain_AFmax=0.07,0.8086,0.3314,0.3314,0.3314,0.3314,0.3314,0.515;B_loss_source=DDD:47058|DDD:47062|dgv50e203,DDD:47058|DDD:47062|DDD:47063|DDD:47074|DDD:47081|DDD:47087|DDD:47091|DDD:47092|dbVar|dgv50e203|dgv819e212|esv2421440,DDD:47058|DDD:47062|DDD:47063|DDD:47074|HI40:ISCA-46492|dbVar|dgv50e203|dgv819e212|esv2421440,DDD:47058|DDD:47062|DDD:47063|dgv50e203,DDD:47058|DDD:47062|DDD:47113|dgv50e203,DDD:47058|DDD:47062|DDD:47113|dgv50e203,DDD:47058|DDD:47062|DDD:47113|DDD:47114|dgv50e203,DDD:47058|DDD:47062|DDD:47113|DDD:47114|dgv50e203;B_loss_coord=16:31749454-34012168|16:32055083-33851279|16:32123333-33664028,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:32129166-32904510|16:32257510-32714406|16:32298051-32812316|16:32485788-32648832|16:32511180-32878155|16:32541493-32648861|16:32589803-32684945|16:32590685-32653097|chr16:32611029-32642738,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:32129166-32904510|16:32257510-32714406|16:32298051-32812316|16:32511180-32878155|16:32656000-32802000|chr16:32656000-32802000,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:32129166-32904510,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:33204449-33378738,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:33204449-33378738,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:33204449-33378738|16:33230271-33739925,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:33204449-33378738|16:33230271-33739925;B_loss_AFmax=0.0715,0.23,0.23,0.1692,0.0715,0.0715,0.1243,0.1243;B_inv_source=IMH;B_inv_coord=16:24121264-80276578|16:29238285-88227116|16:32354183-33512427|16:32354247-33512560;B_inv_AFmax=0.4996;po_B_gain_someG_source=16:32055083-33851279_DDD:47058|16:32129166-32904510_DDD:47063|16:32345385-33344188_IMH|chr16:32452605-32490199_dbVar|chr16:32471402-32603879_dbVar|16:32473116-32486576_DDD:47080|16:32489448-32622550_dgv4e224|chr16:32490199-32627933_dbVar|chr16:32510679-32510887_dbVar|16:32589803-32684945_DDD:47091|chr16:32603879-32651988_dbVar|16:32611030-32642738_1000g|16:32611030-32642738_dgv507e214|chr16:32656764-32657401_dbVar|chr16:32740800-32750700_dbVar|chr16:32831659-32863935_dbVar|16:32831660-32863935_1000g|16:32831660-32863935_dgv508e214|chr16:32903491-32927819_dbVar|16:32903492-32927819_dgv509e214...;po_B_gain_someG_coord=16:31749454-34012168_dgv50e203|16:32123333-33664028_DDD:47062|16:32257510-32714406_esv2421440|chr16:32379212-32490199_dbVar|chr16:32452605-32603879_dbVar|chr16:32471402-32942494_dbVar|16:32486529-32486871_DDD:47082|chr16:32490199-32603879_dbVar|chr16:32490199-32942494_dbVar|16:32511180-33912324_dgv821e212|chr16:32591655-32592550_dbVar|chr16:32611029-32642738_dbVar|16:32611030-32642738_1000g|chr16:32651988-32942494_dbVar|16:32684868-32688916_DDD:47098|16:32740800-32750700_gnomAD-SV_v2.1_DUP_16_42037|16:32831660-32863935_1000g|16:32831660-32863935_1000g|16:32900256-32908555_nsv514802|16:32903492-32927819_1000g...;po_B_loss_someG_source=16:32052946-32496748_DDD:47057|16:32123333-33664028_DDD:47062|16:32257510-32714406_esv2421440|chr16:32473466-32473664_dbVar|16:32485788-32648832_DDD:47081|16:32489448-32622550_dgv4e224|chr16:32494596-32496820_dbVar|chr16:32511665-32511727_dbVar|16:32524651-32525229_IMH|16:32532282-32533735_IMH|16:32562331-32601372_IMH|chr16:32586298-32586783_dbVar|16:32588181-32590788_1000g|16:32589803-32684945_DDD:47091|chr16:32598581-32602963_dbVar|16:32598582-32602963_esv3638436|16:32600138-32601847_IMH|16:32600306-32601869_1000g|16:32600344-32601845_IMH|chr16:32611029-32642738_dbVar...;po_B_loss_someG_coord=16:31749454-34012168_dgv50e203|16:32055083-33851279_DDD:47058|16:32129166-32904510_DDD:47063|16:32298051-32812316_DDD:47074|chr16:32485126-32485204_dbVar|16:32486808-32486871_DDD:47084|chr16:32491490-32496732_dbVar|16:32511180-32878155_dgv819e212|16:32518848-32519371_IMH|16:32525918-32525974_IMH|16:32541493-32648861_DDD:47087|16:32562341-32600296_IMH|chr16:32588180-32590788_dbVar|16:32588181-32590788_esv3638433|16:32590685-32653097_DDD:47092|16:32598582-32602963_1000g|chr16:32598863-32598991_dbVar|chr16:32600305-32601869_dbVar|16:32600306-32601869_esv3638437|16:32600531-32601385_IMH...;Cosmic_ID=648719|1019197|1024072|650740|664134|659810|662750|680372|700711|663041|687752|647804|669214|687945|678392|673066|650929|691320|677227|667456|685071|690589|682294|668120|652867|699971|679825|701586|690156|694132|664617|684688|668303|660676|681693|690990|670781|1020690|898894|655763|881905|818836|660363|674708|1024694|1024914|676793|1026893|1023636|819090|811320|...;Cosmic_mut_typ=loss|gain;GC_content_left=0.255;GC_content_right=0.275;Repeat_coord_left=16:32471562-32471589;Repeat_type_left=AT_rich;SegDup_left=16:32328196-32493021|16:32333061-32489849|16:32333061-32492391|16:32462184-32472474;SegDup_right=16:33363548-33517471|16:33465320-33517471|16:33466597-33509202;DDD_HI_percent=94.39,.,94.39,.,91.96,.,92.24,.;NCBI_gene_ID=.,.,24150,386757,653550,.,729355,.;AnnotSV_ranking_score=-1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2F/4O_(cf_B_loss_source,_-1.00)|2B_(cf_po_P_loss_source,_HI,_OMIM_morbid,_+0.00)|3A_(7_genes,_+0.00)|5F_(+0.00);ACMG_class=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1;END=33487672;SVLEN=-1016046 GT 1/. 16 33371444 . A . PASS AnnotSV_ID=16_33371444_34285848_DUP_1;SV_start=33371444;Biologist_ranking=Benign;Annotation_mode=full,split,split,split;CytoBand=p11.2;Gene_name=ENPP7P13|MIR9901|CCNYL3,ENPP7P13,MIR9901,CCNYL3;Closest_left=LOC107987386;Closest_right=UBE2MP1;Gene_count=3;Tx=.,NR_130771,NR_162093,NR_158158;Tx_version=.,1,1,1;Tx_start=.,33571843,33966044,34264719;Tx_end=.,33586742,33966140,34294699;Overlapped_tx_length=.,14899,96,21129;Overlapped_CDS_length=.,0,0,0;Overlapped_CDS_percent=.,0,0,0;Frameshift=.,no,no,no;Exon_count=.,3,1,11;Location=.,txStart-txEnd,txStart-txEnd,txStart-intron9;Location2=.,UTR,UTR,UTR;Dist_nearest_SS=.,.,.,82;Nearest_SS_type=.,.,.,5';Intersect_start=.,33571843,33966044,34264719;Intersect_end=.,33586742,33966140,34285848;po_P_gain_source=dbVar:nssv15158812|dbVar:nssv15148703|dbVar:nssv15150639|nssv15151292|dbVar:nssv15158813|dbVar:nssv15158224|dbVar:nssv16216874|dbVar:nssv15126545|dbVar:nssv15133058|dbVar:nssv15126469|dbVar:nssv15150356;po_P_gain_coord=16:61452-90294632|16:69194-90274381|16:85882-90155062|16:88166-90163275|16:88166-90274695|16:5805002-34230001|16:24381954-33923059|16:30703234-35147508|16:31986099-90294753|16:34197493-64509054;po_P_gain_percent=1.01|1.01|1.02|1.02|1.01|3.02|5.78|20.57|1.57|0.29;po_P_loss_source=dbVar:nssv15141243;po_P_loss_coord=16:28826163-34375007;po_P_loss_percent=16.48;B_gain_source=.,DDD:47058|DDD:47062|DDD:47114|DDD:47116|DDD:47126|DDD:47131|DDD:47136|dbVar|dgv50e203|dgv821e212|nsv514803,dgv50e203,TS40:ISCA-37481|dbVar|dgv51e203|nsv516385;B_gain_coord=.,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:32511180-33912324|16:33230271-33739925|16:33270420-33827235|16:33302092-33630727|16:33473790-33628580|16:33526621-33659628|chr16:33549000-33642000|chr16:33551705-33589259|chr16:33551705-33589453|16:33560604-33662009|chr16:33561954-33589259|chr16:33566225-33589259|chr16:33569214-33589259,16:31749454-34012168,chr16:34189000-34557000|16:34197352-35283226|16:34202089-35147508|16:34259806-34805859;B_gain_AFmax=.,0.515,0.07,0.06;B_loss_source=.,DDD:47058|DDD:47062|DDD:47114|DDD:47126|dgv50e203,dgv50e203,HI40:ISCA-37481|dbVar;B_loss_coord=.,16:31749454-34012168|16:32055083-33851279|16:32123333-33664028|16:33230271-33739925|16:33473790-33628580,16:31749454-34012168,chr16:34197000-34310700|chr16:34197000-34434000|16:34202089-35147508;B_loss_AFmax=.,0.1243,0.05,0.01;B_inv_source=IMH;B_inv_coord=16:24121264-80276578|16:29238285-88227116,16:24121264-80276578|16:29238285-88227116,16:24121264-80276578|16:29238285-88227116,16:24121264-80276578|16:29238285-88227116|16:34180655-46447887|16:34188883-46442460;B_inv_AFmax=0.4996;po_B_gain_someG_source=16:32055083-33851279_DDD:47058|16:32511180-33912324_dgv821e212|16:33230271-33739925_DDD:47114|16:33302092-33630727_nsv514803|chr16:33376000-33520200_dbVar|16:33406659-33406773_IMH|16:33446164-33480261_1000g|16:33446164-33480261_dgv510e214|chr16:33470755-33495606_dbVar|16:33470756-33495606_1000g|16:33473790-33628580_DDD:47126|16:33484522-33543753_1000g|16:33484522-33543753_dgv512e214|chr16:33491040-33525298_dbVar|chr16:33491040-33530645_dbVar|chr16:33524565-33570784_dbVar|16:33524566-33570784_1000g|chr16:33525298-33530645_dbVar|16:33526621-33659628_DDD:47131|chr16:33551705-33566225_dbVar...;po_B_gain_someG_coord=16:31749454-34012168_dgv50e203|16:32123333-33664028_DDD:47062|16:33204449-33378738_DDD:47113|16:33270420-33827235_DDD:47116|chr16:33342500-33372600_dbVar|16:33376004-33548487_DDD:47124|chr16:33446163-33480261_dbVar|16:33446164-33480261_1000g|16:33464249-33499453_DDD:47125|16:33470756-33495606_1000g|16:33470756-33495606_dgv511e214|chr16:33484521-33543753_dbVar|16:33484522-33543753_1000g|chr16:33487822-33530645_dbVar|chr16:33491040-33527971_dbVar|chr16:33491040-33566225_dbVar|16:33524566-33570784_1000g|16:33524566-33570784_dgv513e214|chr16:33525298-33566225_dbVar|chr16:33549000-33642000_dbVar...;po_B_loss_someG_source=16:32055083-33851279_DDD:47058|16:33204449-33378738_DDD:47113|chr16:33429584-33429643_dbVar|16:33433594-33433957_gnomAD-SV_v2.1_DEL_16_153879|chr16:33462282-33462339_dbVar|16:33464249-33499453_DDD:47125|chr16:33470755-33495606_dbVar|16:33473790-33628580_DDD:47126|16:33486471-33490892_DDD:47128|chr16:33524565-33570784_dbVar|16:33537417-33539750_esv2656732|chr16:33545163-33547147_dbVar|chr16:33559201-33559298_dbVar|chr16:33560642-33560933_dbVar|16:33582387-33629628_DDD:47138|16:33586836-33590310_1000g|chr16:33588532-33626594_dbVar|16:33589117-33599697_1000g|chr16:33597522-33597696_dbVar|16:33604896-33605259_gnomAD-SV_v2.1_DEL_16_153891...;po_B_loss_someG_coord=16:31749454-34012168_dgv50e203|16:32123333-33664028_DDD:47062|16:33230271-33739925_DDD:47114|chr16:33433594-33433957_dbVar|chr16:33446163-33480261_dbVar|16:33462282-33462339_gnomAD-SV_v2.1_DEL_16_153880|chr16:33467950-33468051_dbVar|chr16:33472157-33472229_dbVar|chr16:33484521-33543753_dbVar|chr16:33509280-33509607_dbVar|chr16:33529598-33529692_dbVar|chr16:33543857-33545591_dbVar|chr16:33556576-33556850_dbVar|16:33559201-33559298_gnomAD-SV_v2.1_DEL_16_153886|chr16:33564729-33565655_dbVar|chr16:33586835-33590310_dbVar|16:33586836-33590310_esv3638472|chr16:33589116-33599697_dbVar|16:33589117-33599697_esv3638477|chr16:33604896-33605259_dbVar...;Cosmic_ID=781016|913793|843787|1699997|2426917|2490784|1685031|659811|699973|670782|680374|660677|672361|684689|664618|671843|657664|681578|1023638|681053|673067|674709|646530|678393|702587|664135|663042|647522|653368|687753|685072|679826|676289|682295|659028|678813|676795|677228|668304|693340|690593|700712|655764|667457|669103|913541|669215|864084|751902|647806|864730|...;Cosmic_mut_typ=gain|loss;GC_content_left=0.43;GC_content_right=0.365;Repeat_coord_left=16:33371221-33371434;Repeat_type_left=AluSz6;SegDup_left=16:33241272-33372204|16:33325624-33372204|16:33330495-33372204|16:33330495-33372204|16:33342946-33372204|16:33353245-33373923|16:33355202-33372204|16:33363548-33517471;ENCODE_blacklist_left=16:32923001-33427100;ENCODE_blacklist_characteristics_left=High_Signal_Region;NCBI_gene_ID=.,104644205,113218496,102724928;AnnotSV_ranking_score=0;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2B_(cf_po_P_gain_source,_TS,_OMIM_morbid,_+0.00)|2G_(cf_po_B_gain_someG_source,_+0.00)|2L_(CCNYL3,_+0.00)|3A_(3_genes,_+0.00)|5F_(+0.00);ACMG_class=3,full=3,full=3,full=3;END=34285848;SVLEN=914404 GT 1/. 16 34493207 . C . PASS AnnotSV_ID=16_34493207_34702366_DUP_1;SV_start=34493207;Biologist_ranking=Benign;Annotation_mode=full,split;CytoBand=p11.2-p11.1;Gene_name=LINC01566;Closest_left=LOC112268173;Closest_right=FRG2DP;Gene_count=1;Tx=.,NR_027080;Tx_version=.,2;Tx_start=.,34597786;Tx_end=.,34626084;Overlapped_tx_length=.,28298;Overlapped_CDS_length=.,0;Overlapped_CDS_percent=.,0;Frameshift=.,no;Exon_count=.,7;Location=.,txStart-txEnd;Location2=.,UTR;Intersect_start=.,34597786;Intersect_end=.,34626084;po_P_gain_source=dbVar:nssv15158812|dbVar:nssv15148703|dbVar:nssv15150639|nssv15151292|dbVar:nssv15158813|dbVar:nssv15158224|dbVar:nssv15133058|dbVar:nssv15126469|dbVar:nssv15150356;po_P_gain_coord=16:61452-90294632|16:69194-90274381|16:85882-90155062|16:88166-90163275|16:88166-90274695|16:30703234-35147508|16:31986099-90294753|16:34197493-64509054;po_P_gain_percent=0.23|0.23|0.23|0.23|0.23|4.71|0.36|0.69;B_gain_source=1000g|DDD:47173|DDD:47179|TS40:ISCA-37481|dbVar|dgv117e55|dgv2962n100|dgv51e203|dgv824e212|esv2421698|esv3638500|gnomAD-SV_v2.1_DUP_16_42078|nsv514804|nsv516385,1000g|DDD:47173|DDD:47179|DDD:47183|TS40:ISCA-37481|dbVar|dgv117e55|dgv2962n100|dgv51e203|dgv824e212|esv2421698|esv3638500|gnomAD-SV_v2.1_DUP_16_42078|gnomAD-SV_v2.1_DUP_16_42081|nsv514804|nsv516385;B_gain_coord=16:34197352-35283226|16:34202089-35147508|16:34259806-34805859|16:34410570-34796531|16:34441796-34784591|16:34445084-34774280|16:34456525-34736855|chr16:34456676-34760206|chr16:34457085-34712399|16:34457086-34712399|16:34457086-34712399|chr16:34465000-34757000|16:34465000-34757000|16:34470705-34757071|16:34471852-34731191|16:34476781-34747070,16:34197352-35283226|16:34202089-35147508|16:34259806-34805859|16:34410570-34796531|16:34441796-34784591|16:34445084-34774280|16:34456525-34736855|chr16:34456676-34760206|chr16:34457085-34712399|16:34457086-34712399|16:34457086-34712399|chr16:34465000-34757000|16:34465000-34757000|16:34470705-34757071|16:34471852-34731191|16:34476781-34747070|16:34567146-34656231|chr16:34572795-34661165|16:34572795-34661165|chr16:34579398-34644534|chr16:34579398-34687954;B_gain_AFmax=0.1875;B_loss_source=HI40:ISCA-37481|dbVar;B_loss_coord=16:34202089-35147508|chr16:34457085-34712399;B_loss_AFmax=0.01;B_inv_source=IMH;B_inv_coord=16:24121264-80276578|16:29238285-88227116|16:34180655-46447887|16:34188883-46442460;B_inv_AFmax=0.4996;po_B_gain_someG_source=16:34197352-35283226_dgv51e203|16:34259806-34805859_nsv516385|16:34441796-34784591_dgv2962n100|16:34456525-34736855_DDD:47173|chr16:34457085-34712399_dbVar|16:34457086-34712399_esv3638500|16:34465000-34757000_gnomAD-SV_v2.1_DUP_16_42078|chr16:34468902-34546672_dbVar|16:34471852-34731191_nsv514804|chr16:34489945-34494742_dbVar|chr16:34500158-34528628_dbVar|chr16:34528628-34542969_dbVar|chr16:34542969-34544540_dbVar|chr16:34545266-34546672_dbVar|chr16:34546672-34548048_dbVar|chr16:34548048-34575188_dbVar|chr16:34548198-34564393_dbVar|chr16:34556315-34556698_dbVar|chr16:34565920-34575188_dbVar|chr16:34572795-34661165_dbVar...;po_B_gain_someG_coord=chr16:34189000-34557000_dbVar|16:34202089-35147508_TS40:ISCA-37481|16:34410570-34796531_dgv117e55|16:34445084-34774280_dgv824e212|chr16:34456676-34760206_dbVar|16:34457086-34712399_1000g|chr16:34465000-34757000_dbVar|chr16:34468902-34494742_dbVar|16:34470705-34757071_esv2421698|16:34476781-34747070_DDD:47179|chr16:34492359-34494742_dbVar|chr16:34507956-34508548_dbVar|chr16:34528628-34544148_dbVar|chr16:34544540-34545266_dbVar|chr16:34545866-34548048_dbVar|chr16:34548048-34548198_dbVar|chr16:34548198-34550637_dbVar|chr16:34552087-34564393_dbVar|chr16:34565920-34571271_dbVar|16:34567146-34656231_DDD:47183...;po_B_loss_someG_source=chr16:34457085-34712399_dbVar|chr16:34513700-34518239_dbVar|chr16:34521342-34521422_dbVar|chr16:34530127-34530478_dbVar|chr16:34539678-34540320_dbVar|chr16:34563433-34571562_dbVar|chr16:34590029-34590133_dbVar|chr16:34590961-34591436_dbVar|chr16:34604209-34604282_dbVar|chr16:34659877-34659999_dbVar|chr16:34666766-34667080_dbVar|chr16:34687510-34703789_dbVar;po_B_loss_someG_coord=16:34202089-35147508_HI40:ISCA-37481|chr16:34502223-34502386_dbVar|chr16:34515750-34515813_dbVar|chr16:34530038-34530588_dbVar|chr16:34539652-34540292_dbVar|16:34539693-34540322_DDD:47181|chr16:34568138-34568693_dbVar|chr16:34590565-34590648_dbVar|chr16:34600723-34610152_dbVar|chr16:34655648-34655724_dbVar|chr16:34664288-34664480_dbVar|chr16:34684662-34685228_dbVar;GC_content_left=0.385;GC_content_right=0.335;NCBI_gene_ID=.,283914;AnnotSV_ranking_score=-1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2D_(cf_B_gain_source,_-1.00)|2B_(cf_po_P_gain_source,_TS,_OMIM_morbid,_+0.00)|3A_(1_gene,_+0.00)|5F_(+0.00);ACMG_class=1,full=1;END=34702366;SVLEN=209159 GT 1/. -17 14100119 . T . PASS AnnotSV_ID=17_14100119_15442066_DUP_1;SV_start=14100119;Biologist_annotation=PMP22_(CMT1A);Biologist_ranking=Pathogenic;Annotation_mode=full,split,split,split,split,split,split,split,split,split,split,split,split,split,split;CytoBand=p12;Gene_name=COX10|CDRT15|HS3ST3B1|MGC12916|CDRT7|LOC101928475|CDRT8|PMP22|MIR4731|TEKT3|CDRT4|TVP23C-CDRT4|CDRT3|TVP23C,COX10,CDRT15,HS3ST3B1,MGC12916,CDRT7,LOC101928475,CDRT8,PMP22,MIR4731,TEKT3,CDRT4,TVP23C-CDRT4,CDRT3,TVP23C;Closest_left=COX10-DT;Closest_right=FBXW10B;Gene_count=14;Tx=.,NM_001303,NM_001007530,NM_006041,NR_026880,NR_033371,NR_135638,NR_103559,NM_000304,NR_039884,NM_031898,NM_001204477,NM_001204478,NR_146601,NM_145301;Tx_version=.,4,3,3,1,1,1,1,4,1,3,2,2,1,3;Tx_start=.,13972820,14138989,14204397,14207056,14934291,14954671,15008301,15133095,15154943,15207128,15339331,15339331,15373624,15405577;Tx_end=.,14111994,14140179,14252721,14209062,14935274,14955593,15009504,15168643,15155013,15244914,15370935,15466797,15374150,15466797;Overlapped_tx_length=.,11876,1190,48324,2006,983,922,1203,35548,70,37786,31604,102735,526,36489;Overlapped_CDS_length=.,404,567,1173,0,0,0,0,483,0,1473,459,33,0,369;Overlapped_CDS_percent=.,30,100,100,0,0,0,0,100,0,100,100,6,0,44;Frameshift=.,yes,no,no,no,no,no,no,no,no,no,no,no,no,no;Exon_count=.,7,3,2,1,3,1,2,5,1,9,4,7,1,6;Location=.,intron6-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,intron5-txEnd,txStart-txEnd,intron5-txEnd;Location2=.,CDS-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,CDS-3'UTR,UTR,CDS-3'UTR;Dist_nearest_SS=.,4580,.,.,.,.,.,.,.,.,.,.,7032,.,7032;Nearest_SS_type=.,5',.,.,.,.,.,.,.,.,.,.,5',.,5';Intersect_start=.,14100118,14138989,14204397,14207056,14934291,14954671,15008301,15133095,15154943,15207128,15339331,15339331,15373624,15405577;Intersect_end=.,14111994,14140179,14252721,14209062,14935274,14955593,15009504,15168643,15155013,15244914,15370935,15442066,15374150,15442066;RE_gene=ABCG8_(morbid/RE=mTL_miRNA)|ACBD5_(morbid/RE=mTL_miRNA)|ACVRL1_(HI=3/morbid/RE=mTL_miRNA)|AMH_(morbid/RE=mTL_miRNA)|ANKS6_(morbid/RE=mTL_miRNA)|ATL3_(morbid/RE=mTL_miRNA)|ATP9A_(morbid/RE=mTL_miRNA)|CABP4_(morbid/RE=mTL_miRNA)|CACNA1C_(morbid/RE=mTL_miRNA)|CAVIN1_(morbid/RE=mTL_miRNA)|CD4_(morbid/RE=mTL_miRNA)|CDT1_(morbid/RE=mTL_miRNA)|CEP104_(morbid/RE=mTL_miRNA)|CHD7_(HI=3/morbid/RE=mTL_miRNA)|CHEK1_(morbid/RE=mTL_miRNA)|CHST6_(morbid/RE=mTL_miRNA)|CISD2_(morbid/RE=mTL_miRNA)|CPT1A_(morbid/RE=mTL_miRNA)|CREB1_(morbid/RE=mTL_miRNA)|CRIPT_(morbid/RE=mTL_miRNA)|CYB5A_(morbid/RE=mTL_miRNA)|CYCS_(morbid/RE=mTL_miRNA)|DNAJB13_(morbid/RE=mTL_miRNA)|DNAJB4_(morbid/RE=mTL_miRNA)|DNAL1_(morbid/RE=mTL_miRNA)|DPP9_(morbid/RE=mTL_miRNA)|EIF2B2_(morbid/RE=mTL_miRNA)|ELAC2_(morbid/RE=ABC_enhancer)|EMC1_(morbid/RE=mTL_miRNA)|FANCA_(morbid/RE=mTL_miRNA)|GAN_(morbid/RE=mTL_miRNA)|GATAD2B_(HI=3/morbid/RE=mTL_miRNA)|GNB5_(morbid/RE=mTL_miRNA)|GOLGA2_(morbid/RE=mTL_miRNA)|GPRC5B_(morbid/RE=mTL_miRNA)|HCFC1_(morbid/RE=mTL_miRNA)|HCN4_(morbid/RE=mTL_miRNA)|HFE_(morbid/RE=mTL_miRNA)|IKBKG_(HI=3/morbid/RE=mTL_miRNA)|IRAK4_(morbid/RE=mTL_miRNA)|ISCA2_(morbid/RE=mTL_miRNA)|KCND3_(morbid/RE=mTL_miRNA)|KCNH2_(HI=3/morbid/RE=mTL_miRNA)|KDM6B_(morbid/RE=mTL_miRNA)|KIAA1549_(morbid/RE=mTL_miRNA)|LDHD_(morbid/RE=mTL_miRNA)|LIAS_(morbid/RE=mTL_miRNA)|LNPK_(morbid/RE=mTL_miRNA)|LRTOMT_(morbid/RE=mTL_miRNA)|LYN_(morbid/RE=mTL_miRNA)...;P_gain_source=dbVar:nssv15123319|nssv18792872|dbVar:nssv15123460|dbVar:nssv15124534|dbVar:nssv15130870|dbVar:nssv15132574|nssv15139980|nssv16091758|dbVar:nssv15143888|dbVar:nssv15144711|dbVar:nssv15605910|dbVar:nssv15770494|dbVar:nssv15770609|dbVar:nssv15770794|dbVar:nssv16216948|dbVar:nssv17171394|dbVar:nssv17171395|dbVar:nssv17171396|dbVar:nssv17517518|dbVar:nssv17968761|dbVar:nssv17971796|dbVar:nssv18788963,.,.,.,.,.,.,.,dbVar:nssv15130870|dbVar:nssv15770494|dbVar:nssv15770609|dbVar:nssv15770794|dbVar:nssv17171395|dbVar:nssv17171396|dbVar:nssv17517518|dbVar:nssv17971796|dbVar:nssv18788963,.,.,.,.,.,.;P_gain_coord=17:14104013-15422557|17:14111773-15442066|17:14139890-15406546|17:14413313-15169915|17:15036413-15036413|17:15132095-15169674|17:15133085-15164054|17:15133095-15164078|17:15133097-15165152|17:15133098-15164054|17:15133961-15169915|17:15134215-15162530|17:15134215-15164064|17:15134229-15164050|17:15134234-15164044|17:15134235-15164044|17:15142769-15164064|17:15142779-15164054|17:15162412-15406546,.,.,.,.,.,.,.,17:15133097-15165152|17:15133098-15164054|17:15134215-15162530|17:15134215-15164064|17:15134229-15164050|17:15134234-15164044|17:15134235-15164044|17:15142769-15164064|17:15142779-15164054,.,.,.,.,.,.;P_loss_phen=?Neuropathy,_inflammatory_demyelinating,_139393_(3)_?AD|Charcot-Marie-Tooth_disease,_type_1A,_118220_(3)_AD|Charcot-Marie-Tooth_disease,_type_1E,_118300_(3)_AD|Dejerine-Sottas_disease,_145900_(3)_AR,AD|Neuropathy,_recurrent,_with_pressure_palsies,_162500_(3)_AD|Roussy-Levy_syndrome,_180800_(3)_AD|Spermatogenic_failure_81,_620277_(3)_AR,.,.,.,.,.,.,.,?Neuropathy,_inflammatory_demyelinating,_139393_(3)_?AD|Charcot-Marie-Tooth_disease,_type_1A,_118220_(3)_AD|Charcot-Marie-Tooth_disease,_type_1E,_118300_(3)_AD|Dejerine-Sottas_disease,_145900_(3)_AR,AD|Neuropathy,_recurrent,_with_pressure_palsies,_162500_(3)_AD|Roussy-Levy_syndrome,_180800_(3)_AD,.,Spermatogenic_failure_81,_620277_(3)_AR,.,.,.,.;P_loss_source=HI3:PMP22|dbVar:nssv15119700|nssv15120161|dbVar:nssv15123358|dbVar:nssv15124100|dbVar:nssv15124536|dbVar:nssv15130148|nssv15131578|dbVar:nssv15131641|dbVar:nssv15132056|dbVar:nssv15133540|dbVar:nssv15152434|dbVar:nssv15605873|dbVar:nssv15770639|dbVar:nssv16212046|dbVar:nssv16213644|dbVar:nssv17171685|dbVar:nssv17171686|dbVar:nssv17171687|dbVar:nssv17517519|dbVar:nssv17968760|dbVar:nssv17971249|dbVar:nssv17971279|dbVar:nssv17972656|dbVar:nssv17974454|dbVar:nssv17974892|dbVar:nssv18788962|morbid:PMP22|morbid:TEKT3,dbVar:nssv15124536,.,.,.,.,.,.,dbVar:nssv15119700|nssv15120161|dbVar:nssv15131641|dbVar:nssv15133540|dbVar:nssv15770639|dbVar:nssv16212046|dbVar:nssv17171685|dbVar:nssv17171686|dbVar:nssv17171687|dbVar:nssv17517519|dbVar:nssv17968760|dbVar:nssv17971279|dbVar:nssv17974892|dbVar:nssv18788962|morbid:PMP22,.,morbid:TEKT3,.,.,.,.;P_loss_coord=17:14110044-14111913|17:14111773-15442066|17:14128551-15422557|17:14139890-15142928|17:14215740-15422582|17:14763747-15242181|17:15133085-15134407|17:15133085-15142938|17:15133085-15164054|17:15133095-15164078|17:15133095-15168690|17:15133098-15164054|17:15133961-15169915|17:15134215-15164064|17:15134234-15164044|17:15134235-15164044|17:15138536-15168643|17:15142769-15142948|17:15142779-15142938|17:15142779-15164054|17:15142930-15164044|17:15152792-15162532|17:15162392-15164044|17:15162402-15162520|17:15162402-15162523|17:15162402-15164054|17:15207129-15244914,17:14110044-14111913,.,.,.,.,.,.,17:15133098-15164054|17:15134215-15164064|17:15134234-15164044|17:15134235-15164044|17:15138536-15168643|17:15142769-15142948|17:15142779-15142938|17:15142779-15164054|17:15142930-15164044|17:15152792-15162532|17:15162392-15164044|17:15162402-15162520|17:15162402-15162523|17:15162402-15164054,.,17:15207129-15244914,.,.,.,.;po_P_gain_phen=17p12_recurrent_(HNPP/CMT1A)_region_(includes_PMP22);po_P_gain_source=dbVar:nssv15148946|dbVar:nssv15150353|dbVar:nssv15149908|nssv15152170|dbVar:nssv15159024|dbVar:nssv15160732|dbVar:nssv15159027|dbVar:nssv15121114|dbVar:nssv17976715|dbVar:nssv15133502|dbVar:nssv15605908|dbVar:nssv17955950|dbVar:nssv18330199|dbVar:nssv15127850|dbVar:nssv15155527|dbVar:nssv18330563|dbVar:nssv16215327|dbVar:nssv15152221|dbVar:nssv15155528|dbVar:nssv15152212|dbVar:nssv15151828|dbVar:nssv15138362|dbVar:nssv18330766|dbVar:nssv15152433|dbVar:nssv15141972|dbVar:nssv15137438|dbVar:nssv15138198|dbVar:nssv15151261|dbVar:nssv15152245|dbVar:nssv15139258|nssv15130449|dbVar:nssv18329572|dbVar:nssv18330190|dbVar:nssv18330250|dbVar:nssv18329615|dbVar:nssv15133504|dbVar:nssv15138548|dbVar:nssv15133503|dbVar:nssv17976450|dbVar:nssv18842067|dbVar:nssv18792739|dbVar:nssv18792799|dbVar:nssv17955866|TS3:ISCA-37436|dbVar:nssv17649964|dbVar:nssv15123339|dbVar:nssv15141042|dbVar:nssv15122626|dbVar:nssv16867389|dbVar:nssv15140957|dbVar:nssv15141757|dbVar:nssv15123522|dbVar:nssv15159072|dbVar:nssv15605912|dbVar:nssv15137903|dbVar:nssv15123444|dbVar:nssv16207305|dbVar:nssv15136705|dbVar:nssv15134920|dbVar:nssv15132415|dbVar:nssv15133505;po_P_gain_coord=17:526-14667519|17:526-15027737|17:527-81041938|17:7215-81058310|17:8548-81060040|17:12345-81057996|17:10795577-17867596|17:11819315-17795978|17:14029614-15562901|17:14063252-15449627|17:14073285-15442296|17:14073564-15479923|17:14073604-15482773|17:14076431-15491532|17:14078284-15479940|17:14079631-15370444|17:14083055-15463054|17:14083055-15479940|17:14083055-15491532|17:14083055-15491533|17:14083055-15567669|17:14083056-15483608|17:14085653-15512120|17:14087934-15437330|17:14087934-15484358|17:14087934-15484858|17:14087934-15490100|17:14087934-15491532|17:14087934-15500645|17:14087935-15479940|17:14087935-15483608|17:14087935-15484358|17:14087935-15484630|17:14090301-15467184|17:14090301-15473590|17:14090301-15482240|17:14093319-15476314|17:14095257-15492591|17:14095307-15466762|17:14095307-15472344|17:14096090-15492591|17:14097916-15422952|17:14098197-15442500|17:14098278-15471179|17:14098661-15501133|17:14099743-15471179|17:14100119-15455297|17:14100119-15458649|17:14100119-15492400|17:14100119-15492444|17:14101030-15504740|17:14105875-15611546|17:14111773-15482872|17:14139858-15707850|17:14195643-15545880|17:15093601-15856310|17:15113718-18184130|17:15138003-20524013|17:15162482-20828612;po_P_gain_percent=3.87|6.17|1.66|1.66|1.66|1.66|18.98|22.45|87.52|96.80|98.02|95.42|95.23|94.83|95.74|98.41|97.24|96.07|95.28|95.28|90.39|95.82|94.07|99.10|96.10|96.06|95.71|95.61|94.99|96.40|96.15|96.10|96.08|97.46|97.01|96.41|97.03|96.04|97.85|97.45|96.09|99.83|99.82|97.75|95.68|97.85|99.02|98.78|96.38|96.38|95.54|88.74|97.02|83.05|92.31|45.69|10.69|5.65|4.93;po_P_loss_phen=17p12_recurrent_(HNPP/CMT1A)_region_(includes_PMP22)|Mitochondrial_complex_IV_deficiency,_nuclear_type_3,_619046_(3)_AR;po_P_loss_source=morbid:COX10|dbVar:nssv15129689|dbVar:nssv17976967|dbVar:nssv18330114|dbVar:nssv15145216|dbVar:nssv18330761|dbVar:nssv15138335|dbVar:nssv18330252|dbVar:nssv15145035|dbVar:nssv15141682|dbVar:nssv15141099|dbVar:nssv15138794|dbVar:nssv18330872|dbVar:nssv15137498|nssv15155529|dbVar:nssv15137504|dbVar:nssv18330269|dbVar:nssv18842062|dbVar:nssv15141647|HI3:ISCA-37436|dbVar:nssv18330706|dbVar:nssv15150275|dbVar:nssv15129116|dbVar:nssv15123772|dbVar:nssv15141918|dbVar:nssv15159071|nssv15605909|dbVar:nssv15123331|dbVar:nssv15605911|dbVar:nssv18786371|dbVar:nssv15605913|dbVar:nssv16255829|dbVar:nssv15136096|dbVar:nssv15136245|dbVar:nssv15126994|dbVar:nssv15134560|dbVar:nssv15137984;po_P_loss_coord=17:13972821-14111994|17:14073604-15482773|17:14076990-15473312|17:14077820-15491532|17:14082226-15421861|17:14082946-15484858|17:14083055-15475087|17:14083056-15484859|17:14086859-15476561|17:14087788-15473312|17:14087788-15483608|17:14087788-15490100|17:14087789-15484858|17:14087934-15484858|17:14087934-15491532|17:14087935-15491532|17:14095257-15477547|17:14095640-15274712|17:14097916-15422952|17:14098248-15475654|17:14098661-15500645|17:14098787-15495266|17:14099743-15471179|17:14100119-15455238|17:14101030-15449627|17:14101030-15482817|17:14104013-15551814|17:14110128-15472344|17:14110452-15449097|17:14111755-15442178|17:14111773-15482872|17:14111773-15491748|17:14112032-15482773|17:14574436-15856310|17:14970117-17375771;po_P_loss_percent=8.53|95.23|96.11|94.92|98.66|95.72|96.40|95.73|96.56|96.85|96.14|95.70|96.05|96.06|95.61|95.61|97.08|99.62|99.83|97.43|95.72|96.10|97.85|99.03|99.44|97.05|92.42|97.78|99.47|99.99|97.02|96.40|97.03|67.68|19.62;P_snvindel_nb=52,1,.,.,.,.,.,.,51,.,.,.,.,.,.;P_snvindel_phen=Charcot-Marie-Tooth_disease|Charcot-Marie-Tooth_disease,_type_I|Charcot-Marie-Tooth_disease,_type_IA|Charcot-Marie-Tooth_disease_type_1E|Charcot-Marie-Tooth_disease_type_2E|Cytochrome-c_oxidase_deficiency_disease|Dejerine-Sottas_disease|Dejerine-Sottas_syndrome,_autosomal_dominant|Hereditary_liability_to_pressure_palsies|Inborn_genetic_diseases|Mitochondrial_complex_4_deficiency,_nuclear_type_3|Roussy-Lévy_syndrome,Cytochrome-c_oxidase_deficiency_disease|Mitochondrial_complex_4_deficiency,_nuclear_type_3,.,.,.,.,.,.,Charcot-Marie-Tooth_disease|Charcot-Marie-Tooth_disease,_type_I|Charcot-Marie-Tooth_disease,_type_IA|Charcot-Marie-Tooth_disease_type_1E|Charcot-Marie-Tooth_disease_type_2E|Dejerine-Sottas_disease|Dejerine-Sottas_syndrome,_autosomal_dominant|Hereditary_liability_to_pressure_palsies|Inborn_genetic_diseases|Roussy-Lévy_syndrome,.,.,.,.,.,.;B_gain_source=dbVar,dbVar,dbVar,dbVar,dbVar,1000g|dbVar|esv3640046,1000g|dbVar|esv3640046,1000g|dbVar|esv3640046,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar;B_gain_coord=chr17:14096997-15486650,chr17:14096997-15486650,chr17:14096997-15486650|chr17:14126839-14220873,chr17:14096997-15486650,chr17:14096997-15486650|chr17:14126839-14220873,chr17:14096997-15486650|chr17:14668589-15084842|17:14668590-15084842|17:14668590-15084842,chr17:14096997-15486650|chr17:14668589-15084842|17:14668590-15084842|17:14668590-15084842,chr17:14096997-15486650|chr17:14668589-15084842|17:14668590-15084842|17:14668590-15084842,chr17:14096997-15486650,chr17:14096997-15486650|chr17:15133798-15197525,chr17:14096997-15486650,chr17:14096997-15486650|chr17:15287341-15482010,chr17:14096997-15486650|chr17:15287341-15482010,chr17:14096997-15486650|chr17:15287341-15482010,chr17:14096997-15486650|chr17:15287341-15482010;B_gain_AFmax=0.01,0.01,0.01,0.01,0.01,0.272,0.272,0.272,0.01,0.01,0.01,0.01,0.01,0.01,0.01;B_loss_source=dbVar;B_loss_coord=chr17:14093499-15486000,chr17:14093499-15486000,chr17:14093499-15486000|chr17:14126839-14220873,chr17:14093499-15486000,chr17:14093499-15486000|chr17:14126839-14220873,chr17:14093499-15486000|chr17:14668589-15084842|chr17:14920183-14938805|chr17:14931264-14977742,chr17:14093499-15486000|chr17:14668589-15084842|chr17:14931264-14977742,chr17:14093499-15486000|chr17:14668589-15084842|chr17:14995672-15057656|chr17:14995771-15057475,chr17:14093499-15486000,chr17:14093499-15486000|chr17:15070858-15163533|chr17:15112458-15159531|chr17:15150741-15155583,chr17:14093499-15486000,chr17:14093499-15486000|chr17:15287341-15482010,chr17:14093499-15486000|chr17:15287341-15482010,chr17:14093499-15486000|chr17:15287341-15482010,chr17:14093499-15486000|chr17:15287341-15482010;B_loss_AFmax=0.01;po_B_gain_someG_source=chr17:14126839-14220873_dbVar|17:14191081-14191901_DDD:48801|chr17:14194000-14199000_dbVar|chr17:14224374-14483419_dbVar|17:14224375-14483419_esv3640026|chr17:14256910-14257055_dbVar|chr17:14298872-14298951_dbVar|chr17:14334186-14339815_dbVar|chr17:14447875-14456539_dbVar|chr17:14668589-15084842_dbVar|17:14668590-15084842_esv3640046|chr17:14685229-14700196_dbVar|chr17:15028960-15030846_dbVar|chr17:15133798-15197525_dbVar|chr17:15287341-15482010_dbVar|chr17:15332787-15332860_dbVar|;po_B_gain_someG_coord=chr17:14096997-15486650_dbVar|chr17:14159542-14160385_dbVar|17:14191081-14198547_DDD:48802|chr17:14216314-14217439_dbVar|17:14224375-14483419_1000g|chr17:14241867-14248195_dbVar|chr17:14284612-14628667_dbVar|chr17:14300914-14367997_dbVar|chr17:14386097-14390355_dbVar|chr17:14489639-14632921_dbVar|17:14668590-15084842_1000g|chr17:14670267-14671370_dbVar|chr17:14767901-14773352_dbVar|chr17:15118923-15125291_dbVar|chr17:15151620-15151916_dbVar|chr17:15323152-15369177_dbVar|chr17:15439000-15444000_dbVar;po_B_loss_someG_source=chr17:14096682-14108514_dbVar|chr17:14126839-14220873_dbVar|chr17:14155625-14155942_dbVar|chr17:14189910-14191555_dbVar|17:14189911-14191555_DDD:48799|17:14189911-14191555_esv2665541|17:14189911-14191557_1000g|17:14189912-14191555_IMH|17:14191081-14191901_DDD:48801|chr17:14220258-14221199_dbVar|17:14240918-14242023_DDD:48803|17:14240923-14242032_1000g|17:14240941-14242023_IMH|chr17:14241867-14248195_dbVar|chr17:14269249-14271950_dbVar|chr17:14277792-14278679_dbVar|chr17:14300414-14308117_dbVar|chr17:14314642-14320048_dbVar|chr17:14315900-14328444_dbVar|17:14332272-14332576_gnomAD-SV_v2.1_DEL_17_158748...;po_B_loss_someG_coord=chr17:14093499-15486000_dbVar|chr17:14105499-14108091_dbVar|chr17:14132469-14133456_dbVar|chr17:14186324-14196555_dbVar|chr17:14189910-14191557_dbVar|chr17:14189911-14191555_dbVar|17:14189911-14191555_gnomAD-SV_v2.1_DEL_17_158736|17:14189911-14191557_esv3640023|17:14190834-14191460_nsv574421|chr17:14210420-14210623_dbVar|chr17:14224374-14483419_dbVar|chr17:14240922-14242032_dbVar|17:14240923-14242032_esv3640027|chr17:14240941-14242023_dbVar|chr17:14256280-14258428_dbVar|chr17:14272755-14288592_dbVar|chr17:14284612-14628667_dbVar|chr17:14300914-14367997_dbVar|chr17:14314678-14320063_dbVar|chr17:14332272-14332576_dbVar...;Cosmic_ID=557088|527329|960663|960664|271780|2830900|301045|262086|573463|591221|586955|271781|581715|527330|468582|482431|573464|531792|306277|570216|937731|271782|162997|826587|816488|787511|784668|811329|831423|864749|823089|2560430|815034|813495|809567|835854|40950|162998|288724|470190|429012|345937|271783|304081|826588|59114|782435|984637|470191|429013|1070158|...,.,.,288724|470190|429012|271783|1070158,.,.,.,.,740803|342512,.,740806|740807|740808|54646|740809|740810,.,323831|1950846|1878175|1562489|1993654|39252,.,.;Cosmic_mut_typ=loss|gain,.,.,loss|gain,.,.,.,.,loss|gain,.,loss|gain,.,loss|gain,.,.;GC_content_left=0.505;GC_content_right=0.42;SegDup_right=17:15422954-15470900;HI=3,30,.,.,.,.,.,.,3,.,.,.,.,.,.;TS=.,.,.,.,.,.,.,.,0,.,.,.,.,.,.;DDD_HI_percent=96.58,60.22,96.58,42.95,.,.,.,.,40.48,.,59.06,86.77,52.33,.,49.2;ExAC_delZ=-2.62354415217069,-2.62354415217069,-2.62354415217069,-2.62354415217069,.,.,.,.,-2.62354415217069,.,-2.62354415217069,-2.62354415217069,-2.62354415217069,.,-2.62354415217069;ExAC_dupZ=-0.276965016632095,-2.20885612270982,-2.20416703243077,-0.276965016632095,.,.,.,.,-1.55852578268999,.,-1.25885348060374,-2.24141606178004,-2.53125239294469,.,-2.53125239294469;ExAC_cnvZ=-1.64032033771268,-2.47162789907313,-2.47162789907313,-1.64032033771268,.,.,.,.,-2.47162789907313,.,-2.47162789907313,-2.47162789907313,-2.47162789907313,.,-2.47162789907313;ExAC_synZ=3.6772325764896,0.16322796385632,1.67462394349301,3.6772325764896,.,.,.,.,-0.424806725478425,.,0.241972873531725,-0.193191475026352,0.433099426603836,.,0.622094281610252;ExAC_misZ=4.17517843763452,0.511864222455301,1.73432863871862,4.17517843763452,.,.,.,.,1.07197498670855,.,-0.405588628410555,0.152950560142403,0.962176598220999,.,0.322678575541803;GenCC_disease=.,Leigh_syndrome|cytochrome-c_oxidase_deficiency_disease|mitochondrial_complex_4_deficiency,_nuclear_type_3|mitochondrial_disease,.,.,.,.,.,.,Charcot-Marie-Tooth_disease_type_1A|Charcot-Marie-Tooth_disease_type_1E|Charcot-Marie-Tooth_disease_type_3|hereditary_neuropathy_with_liability_to_pressure_palsies,.,spermatogenic_failure_81,.,.,.,.;GenCC_moi=.,AR,.,.,.,.,.,.,AD,.,.,.,.,.,.;GenCC_classification=.,Definitive|Moderate|Strong|Supportive,.,.,.,.,.,.,Definitive|Moderate|Strong|Supportive,.,Limited,.,.,.,.;GenCC_pmid=.,10767350|10767350[PMID]_12928484[PMID]_15455402[PMID]|12928484|15455402|16103131|22622581|24100867,.,.,.,.,.,.,10330345|118220|12578939|162500|18698610[PMID]_12090401[PMID]|20301384[PMID]|23224996|24175617|601097|7931393|8355122|9143558|NULL,.,18951373|36708031,.,.,.,.;NCBI_gene_ID=.,1352,146822,9953,.,94150,.,94151,5376,100616125,64518,284040,100533496,94145,201158;OMIM_ID=602125|601097|612683,602125,.,.,.,.,.,.,601097,.,612683,.,.,.,.;OMIM_phenotype=.,Mitochondrial_complex_IV_deficiency,_nuclear_type_3,_619046_(3)_AR,.,.,.,.,.,.,?Neuropathy,_inflammatory_demyelinating,_139393_(3)_?AD|Charcot-Marie-Tooth_disease,_type_1A,_118220_(3)_AD|Charcot-Marie-Tooth_disease,_type_1E,_118300_(3)_AD|Dejerine-Sottas_disease,_145900_(3)_AD,AR|Neuropathy,_recurrent,_with_pressure_palsies,_162500_(3)_AD|Roussy-Levy_syndrome,_180800_(3)_AD,.,Spermatogenic_failure_81,_620277_(3)_AR,.,.,.,.;OMIM_inheritance=.,AR,.,.,.,.,.,.,?AD|AD|AD,AR,.,AR,.,.,.,.;OMIM_morbid=yes,yes,.,.,.,.,.,.,yes,.,yes,.,.,.,.;OMIM_morbid_candidate=yes,.,.,.,.,.,.,.,yes,.,.,.,.,.,.;LOEUF_bin=1,3,9,4,.,.,.,.,1,.,7,9,7,.,7;GnomAD_pLI=0.90958,0.08405,1.282e-06,0.29349,.,.,.,.,0.90958,.,1.9845e-17,0.095789,8.7378e-07,.,2.3189e-05;ExAC_pLI=0.83315,0.64657,0.0075064,0.085455,.,.,.,.,0.83315,.,3.1995e-14,0.24429,0.0023623,.,0.00013674;AnnotSV_ranking_score=1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2A_(cf_P_gain_source,_+1.00)|2H-2_(PMP22/TEKT3,_+0.00)|2J_(COX10,_+0.00)|2L_(TVP23C/TVP23C-CDRT4,_+0.00)|3A_(14_genes,_+0.00)|5F_(+0.00);ACMG_class=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5;END=15442066;SVLEN=1341947 GT 1/. +17 14100119 . T . PASS AnnotSV_ID=17_14100119_15442066_DUP_1;SV_start=14100119;Biologist_annotation=PMP22_(CMT1A);Biologist_ranking=Pathogenic;Annotation_mode=full,split,split,split,split,split,split,split,split,split,split,split,split,split,split;CytoBand=p12;Gene_name=COX10|CDRT15|HS3ST3B1|MGC12916|CDRT7|LOC101928475|CDRT8|PMP22|MIR4731|TEKT3|CDRT4|TVP23C-CDRT4|CDRT3|TVP23C,COX10,CDRT15,HS3ST3B1,MGC12916,CDRT7,LOC101928475,CDRT8,PMP22,MIR4731,TEKT3,CDRT4,TVP23C-CDRT4,CDRT3,TVP23C;Closest_left=COX10-DT;Closest_right=FBXW10B;Gene_count=14;Tx=.,NM_001303,NM_001007530,NM_006041,NR_026880,NR_033371,NR_135638,NR_103559,NM_000304,NR_039884,NM_031898,NM_001204477,NM_001204478,NR_146601,NM_145301;Tx_version=.,4,3,3,1,1,1,1,4,1,3,2,2,1,3;Tx_start=.,13972820,14138989,14204397,14207056,14934291,14954671,15008301,15133095,15154943,15207128,15339331,15339331,15373624,15405577;Tx_end=.,14111994,14140179,14252721,14209062,14935274,14955593,15009504,15168643,15155013,15244914,15370935,15466797,15374150,15466797;Overlapped_tx_length=.,11876,1190,48324,2006,983,922,1203,35548,70,37786,31604,102735,526,36489;Overlapped_CDS_length=.,404,567,1173,0,0,0,0,483,0,1473,459,33,0,369;Overlapped_CDS_percent=.,30,100,100,0,0,0,0,100,0,100,100,6,0,44;Frameshift=.,yes,no,no,no,no,no,no,no,no,no,no,no,no,no;Exon_count=.,7,3,2,1,3,1,2,5,1,9,4,7,1,6;Location=.,intron6-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,intron5-txEnd,txStart-txEnd,intron5-txEnd;Location2=.,CDS-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,CDS-3'UTR,UTR,CDS-3'UTR;Dist_nearest_SS=.,4580,.,.,.,.,.,.,.,.,.,.,7032,.,7032;Nearest_SS_type=.,5',.,.,.,.,.,.,.,.,.,.,5',.,5';Intersect_start=.,14100118,14138989,14204397,14207056,14934291,14954671,15008301,15133095,15154943,15207128,15339331,15339331,15373624,15405577;Intersect_end=.,14111994,14140179,14252721,14209062,14935274,14955593,15009504,15168643,15155013,15244914,15370935,15442066,15374150,15442066;RE_gene=ABCG8_(morbid/RE=mTL_miRNA)|ACBD5_(morbid/RE=mTL_miRNA)|ACVRL1_(HI=3/morbid/RE=mTL_miRNA)|AMH_(morbid/RE=mTL_miRNA)|ANKS6_(morbid/RE=mTL_miRNA)|ATL3_(morbid/RE=mTL_miRNA)|ATP9A_(morbid/RE=mTL_miRNA)|CABP4_(morbid/RE=mTL_miRNA)|CACNA1C_(morbid/RE=mTL_miRNA)|CAVIN1_(morbid/RE=mTL_miRNA)|CD4_(morbid/RE=mTL_miRNA)|CDT1_(morbid/RE=mTL_miRNA)|CEP104_(morbid/RE=mTL_miRNA)|CHD7_(HI=3/morbid/RE=mTL_miRNA)|CHEK1_(morbid/RE=mTL_miRNA)|CHST6_(morbid/RE=mTL_miRNA)|CISD2_(morbid/RE=mTL_miRNA)|CPT1A_(morbid/RE=mTL_miRNA)|CREB1_(morbid/RE=mTL_miRNA)|CRIPT_(morbid/RE=mTL_miRNA)|CYB5A_(morbid/RE=mTL_miRNA)|CYCS_(morbid/RE=mTL_miRNA)|DNAJB13_(morbid/RE=mTL_miRNA)|DNAJB4_(morbid/RE=mTL_miRNA)|DNAL1_(morbid/RE=mTL_miRNA)|DPP9_(morbid/RE=mTL_miRNA)|EIF2B2_(morbid/RE=mTL_miRNA)|ELAC2_(morbid/RE=ABC_enhancer)|EMC1_(morbid/RE=mTL_miRNA)|FANCA_(morbid/RE=mTL_miRNA)|GAN_(morbid/RE=mTL_miRNA)|GATAD2B_(HI=3/morbid/RE=mTL_miRNA)|GNB5_(morbid/RE=mTL_miRNA)|GOLGA2_(morbid/RE=mTL_miRNA)|GPRC5B_(morbid/RE=mTL_miRNA)|HCFC1_(morbid/RE=mTL_miRNA)|HCN4_(morbid/RE=mTL_miRNA)|HFE_(morbid/RE=mTL_miRNA)|IKBKG_(HI=3/morbid/RE=mTL_miRNA)|IRAK4_(morbid/RE=mTL_miRNA)|ISCA2_(morbid/RE=mTL_miRNA)|KCND3_(morbid/RE=mTL_miRNA)|KCNH2_(HI=3/morbid/RE=mTL_miRNA)|KDM6B_(morbid/RE=mTL_miRNA)|KIAA1549_(morbid/RE=mTL_miRNA)|LDHD_(morbid/RE=mTL_miRNA)|LIAS_(morbid/RE=mTL_miRNA)|LNPK_(morbid/RE=mTL_miRNA)|LRTOMT_(morbid/RE=mTL_miRNA)|LYN_(morbid/RE=mTL_miRNA)...;P_gain_source=dbVar:nssv15123319|nssv18792872|dbVar:nssv15123460|dbVar:nssv15124534|dbVar:nssv15130870|dbVar:nssv15132574|nssv15139980|nssv16091758|dbVar:nssv15143888|dbVar:nssv15144711|dbVar:nssv15605910|dbVar:nssv15770494|dbVar:nssv15770609|dbVar:nssv15770794|dbVar:nssv16216948|dbVar:nssv17171394|dbVar:nssv17171395|dbVar:nssv17171396|dbVar:nssv17517518|dbVar:nssv17968761|dbVar:nssv17971796|dbVar:nssv18788963,.,.,.,.,.,.,.,dbVar:nssv15130870|dbVar:nssv15770494|dbVar:nssv15770609|dbVar:nssv15770794|dbVar:nssv17171395|dbVar:nssv17171396|dbVar:nssv17517518|dbVar:nssv17971796|dbVar:nssv18788963,.,.,.,.,.,.;P_gain_coord=17:14104013-15422557|17:14111773-15442066|17:14139890-15406546|17:14413313-15169915|17:15036413-15036413|17:15132095-15169674|17:15133085-15164054|17:15133095-15164078|17:15133097-15165152|17:15133098-15164054|17:15133961-15169915|17:15134215-15162530|17:15134215-15164064|17:15134229-15164050|17:15134234-15164044|17:15134235-15164044|17:15142769-15164064|17:15142779-15164054|17:15162412-15406546,.,.,.,.,.,.,.,17:15133097-15165152|17:15133098-15164054|17:15134215-15162530|17:15134215-15164064|17:15134229-15164050|17:15134234-15164044|17:15134235-15164044|17:15142769-15164064|17:15142779-15164054,.,.,.,.,.,.;P_loss_phen=?Neuropathy,_inflammatory_demyelinating,_139393_(3)_?AD|Charcot-Marie-Tooth_disease,_type_1A,_118220_(3)_AD|Charcot-Marie-Tooth_disease,_type_1E,_118300_(3)_AD|Dejerine-Sottas_disease,_145900_(3)_AR,AD|Neuropathy,_recurrent,_with_pressure_palsies,_162500_(3)_AD|Roussy-Levy_syndrome,_180800_(3)_AD|Spermatogenic_failure_81,_620277_(3)_AR,.,.,.,.,.,.,.,?Neuropathy,_inflammatory_demyelinating,_139393_(3)_?AD|Charcot-Marie-Tooth_disease,_type_1A,_118220_(3)_AD|Charcot-Marie-Tooth_disease,_type_1E,_118300_(3)_AD|Dejerine-Sottas_disease,_145900_(3)_AR,AD|Neuropathy,_recurrent,_with_pressure_palsies,_162500_(3)_AD|Roussy-Levy_syndrome,_180800_(3)_AD,.,Spermatogenic_failure_81,_620277_(3)_AR,.,.,.,.;P_loss_source=HI3:PMP22|dbVar:nssv15119700|nssv15120161|dbVar:nssv15123358|dbVar:nssv15124100|dbVar:nssv15124536|dbVar:nssv15130148|nssv15131578|dbVar:nssv15131641|dbVar:nssv15132056|dbVar:nssv15133540|dbVar:nssv15152434|dbVar:nssv15605873|dbVar:nssv15770639|dbVar:nssv16212046|dbVar:nssv16213644|dbVar:nssv17171685|dbVar:nssv17171686|dbVar:nssv17171687|dbVar:nssv17517519|dbVar:nssv17968760|dbVar:nssv17971249|dbVar:nssv17971279|dbVar:nssv17972656|dbVar:nssv17974454|dbVar:nssv17974892|dbVar:nssv18788962|morbid:PMP22|morbid:TEKT3,dbVar:nssv15124536,.,.,.,.,.,.,dbVar:nssv15119700|nssv15120161|dbVar:nssv15131641|dbVar:nssv15133540|dbVar:nssv15770639|dbVar:nssv16212046|dbVar:nssv17171685|dbVar:nssv17171686|dbVar:nssv17171687|dbVar:nssv17517519|dbVar:nssv17968760|dbVar:nssv17971279|dbVar:nssv17974892|dbVar:nssv18788962|morbid:PMP22,.,morbid:TEKT3,.,.,.,.;P_loss_coord=17:14110044-14111913|17:14111773-15442066|17:14128551-15422557|17:14139890-15142928|17:14215740-15422582|17:14763747-15242181|17:15133085-15134407|17:15133085-15142938|17:15133085-15164054|17:15133095-15164078|17:15133095-15168690|17:15133098-15164054|17:15133961-15169915|17:15134215-15164064|17:15134234-15164044|17:15134235-15164044|17:15138536-15168643|17:15142769-15142948|17:15142779-15142938|17:15142779-15164054|17:15142930-15164044|17:15152792-15162532|17:15162392-15164044|17:15162402-15162520|17:15162402-15162523|17:15162402-15164054|17:15207129-15244914,17:14110044-14111913,.,.,.,.,.,.,17:15133098-15164054|17:15134215-15164064|17:15134234-15164044|17:15134235-15164044|17:15138536-15168643|17:15142769-15142948|17:15142779-15142938|17:15142779-15164054|17:15142930-15164044|17:15152792-15162532|17:15162392-15164044|17:15162402-15162520|17:15162402-15162523|17:15162402-15164054,.,17:15207129-15244914,.,.,.,.;po_P_gain_phen=17p12_recurrent_(HNPP/CMT1A)_region_(includes_PMP22);po_P_gain_source=dbVar:nssv15148946|dbVar:nssv15150353|dbVar:nssv15149908|nssv15152170|dbVar:nssv15159024|dbVar:nssv15160732|dbVar:nssv15159027|dbVar:nssv15121114|dbVar:nssv17976715|dbVar:nssv15133502|dbVar:nssv15605908|dbVar:nssv17955950|dbVar:nssv18330199|dbVar:nssv15127850|dbVar:nssv15155527|dbVar:nssv18330563|dbVar:nssv16215327|dbVar:nssv15152221|dbVar:nssv15155528|dbVar:nssv15152212|dbVar:nssv15151828|dbVar:nssv15138362|dbVar:nssv18330766|dbVar:nssv15152433|dbVar:nssv15141972|dbVar:nssv15137438|dbVar:nssv15138198|dbVar:nssv15151261|dbVar:nssv15152245|dbVar:nssv15139258|nssv15130449|dbVar:nssv18329572|dbVar:nssv18330190|dbVar:nssv18330250|dbVar:nssv18329615|dbVar:nssv15133504|dbVar:nssv15138548|dbVar:nssv15133503|dbVar:nssv17976450|dbVar:nssv18842067|dbVar:nssv18792739|dbVar:nssv18792799|dbVar:nssv17955866|TS3:ISCA-37436|dbVar:nssv17649964|dbVar:nssv15123339|dbVar:nssv15141042|dbVar:nssv15122626|dbVar:nssv16867389|dbVar:nssv15140957|dbVar:nssv15141757|dbVar:nssv15123522|dbVar:nssv15159072|dbVar:nssv15605912|dbVar:nssv15137903|dbVar:nssv15123444|dbVar:nssv16207305|dbVar:nssv15136705|dbVar:nssv15134920|dbVar:nssv15132415|dbVar:nssv15133505;po_P_gain_coord=17:526-14667519|17:526-15027737|17:527-81041938|17:7215-81058310|17:8548-81060040|17:12345-81057996|17:10795577-17867596|17:11819315-17795978|17:14029614-15562901|17:14063252-15449627|17:14073285-15442296|17:14073564-15479923|17:14073604-15482773|17:14076431-15491532|17:14078284-15479940|17:14079631-15370444|17:14083055-15463054|17:14083055-15479940|17:14083055-15491532|17:14083055-15491533|17:14083055-15567669|17:14083056-15483608|17:14085653-15512120|17:14087934-15437330|17:14087934-15484358|17:14087934-15484858|17:14087934-15490100|17:14087934-15491532|17:14087934-15500645|17:14087935-15479940|17:14087935-15483608|17:14087935-15484358|17:14087935-15484630|17:14090301-15467184|17:14090301-15473590|17:14090301-15482240|17:14093319-15476314|17:14095257-15492591|17:14095307-15466762|17:14095307-15472344|17:14096090-15492591|17:14097916-15422952|17:14098197-15442500|17:14098278-15471179|17:14098661-15501133|17:14099743-15471179|17:14100119-15455297|17:14100119-15458649|17:14100119-15492400|17:14100119-15492444|17:14101030-15504740|17:14105875-15611546|17:14111773-15482872|17:14139858-15707850|17:14195643-15545880|17:15093601-15856310|17:15113718-18184130|17:15138003-20524013|17:15162482-20828612;po_P_gain_percent=3.87|6.17|1.66|1.66|1.66|1.66|18.98|22.45|87.52|96.80|98.02|95.42|95.23|94.83|95.74|98.41|97.24|96.07|95.28|95.28|90.39|95.82|94.07|99.10|96.10|96.06|95.71|95.61|94.99|96.40|96.15|96.10|96.08|97.46|97.01|96.41|97.03|96.04|97.85|97.45|96.09|99.83|99.82|97.75|95.68|97.85|99.02|98.78|96.38|96.38|95.54|88.74|97.02|83.05|92.31|45.69|10.69|5.65|4.93;po_P_loss_phen=17p12_recurrent_(HNPP/CMT1A)_region_(includes_PMP22)|Mitochondrial_complex_IV_deficiency,_nuclear_type_3,_619046_(3)_AR;po_P_loss_source=morbid:COX10|dbVar:nssv15129689|dbVar:nssv17976967|dbVar:nssv18330114|dbVar:nssv15145216|dbVar:nssv18330761|dbVar:nssv15138335|dbVar:nssv18330252|dbVar:nssv15145035|dbVar:nssv15141682|dbVar:nssv15141099|dbVar:nssv15138794|dbVar:nssv18330872|dbVar:nssv15137498|nssv15155529|dbVar:nssv15137504|dbVar:nssv18330269|dbVar:nssv18842062|dbVar:nssv15141647|HI3:ISCA-37436|dbVar:nssv18330706|dbVar:nssv15150275|dbVar:nssv15129116|dbVar:nssv15123772|dbVar:nssv15141918|dbVar:nssv15159071|nssv15605909|dbVar:nssv15123331|dbVar:nssv15605911|dbVar:nssv18786371|dbVar:nssv15605913|dbVar:nssv16255829|dbVar:nssv15136096|dbVar:nssv15136245|dbVar:nssv15126994|dbVar:nssv15134560|dbVar:nssv15137984;po_P_loss_coord=17:13972821-14111994|17:14073604-15482773|17:14076990-15473312|17:14077820-15491532|17:14082226-15421861|17:14082946-15484858|17:14083055-15475087|17:14083056-15484859|17:14086859-15476561|17:14087788-15473312|17:14087788-15483608|17:14087788-15490100|17:14087789-15484858|17:14087934-15484858|17:14087934-15491532|17:14087935-15491532|17:14095257-15477547|17:14095640-15274712|17:14097916-15422952|17:14098248-15475654|17:14098661-15500645|17:14098787-15495266|17:14099743-15471179|17:14100119-15455238|17:14101030-15449627|17:14101030-15482817|17:14104013-15551814|17:14110128-15472344|17:14110452-15449097|17:14111755-15442178|17:14111773-15482872|17:14111773-15491748|17:14112032-15482773|17:14574436-15856310|17:14970117-17375771;po_P_loss_percent=8.53|95.23|96.11|94.92|98.66|95.72|96.40|95.73|96.56|96.85|96.14|95.70|96.05|96.06|95.61|95.61|97.08|99.62|99.83|97.43|95.72|96.10|97.85|99.03|99.44|97.05|92.42|97.78|99.47|99.99|97.02|96.40|97.03|67.68|19.62;P_snvindel_nb=52,1,.,.,.,.,.,.,51,.,.,.,.,.,.;P_snvindel_phen=Charcot-Marie-Tooth_disease|Charcot-Marie-Tooth_disease,_type_I|Charcot-Marie-Tooth_disease,_type_IA|Charcot-Marie-Tooth_disease_type_1E|Charcot-Marie-Tooth_disease_type_2E|Cytochrome-c_oxidase_deficiency_disease|Dejerine-Sottas_disease|Dejerine-Sottas_syndrome,_autosomal_dominant|Hereditary_liability_to_pressure_palsies|Inborn_genetic_diseases|Mitochondrial_complex_4_deficiency,_nuclear_type_3|Roussy-Lévy_syndrome,Cytochrome-c_oxidase_deficiency_disease|Mitochondrial_complex_4_deficiency,_nuclear_type_3,.,.,.,.,.,.,Charcot-Marie-Tooth_disease|Charcot-Marie-Tooth_disease,_type_I|Charcot-Marie-Tooth_disease,_type_IA|Charcot-Marie-Tooth_disease_type_1E|Charcot-Marie-Tooth_disease_type_2E|Dejerine-Sottas_disease|Dejerine-Sottas_syndrome,_autosomal_dominant|Hereditary_liability_to_pressure_palsies|Inborn_genetic_diseases|Roussy-Lévy_syndrome,.,.,.,.,.,.;B_gain_source=dbVar,dbVar,dbVar,dbVar,dbVar,1000g|dbVar|esv3640046,1000g|dbVar|esv3640046,1000g|dbVar|esv3640046,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar;B_gain_coord=chr17:14096997-15486650,chr17:14096997-15486650,chr17:14096997-15486650|chr17:14126839-14220873,chr17:14096997-15486650,chr17:14096997-15486650|chr17:14126839-14220873,chr17:14096997-15486650|chr17:14668589-15084842|17:14668590-15084842|17:14668590-15084842,chr17:14096997-15486650|chr17:14668589-15084842|17:14668590-15084842|17:14668590-15084842,chr17:14096997-15486650|chr17:14668589-15084842|17:14668590-15084842|17:14668590-15084842,chr17:14096997-15486650,chr17:14096997-15486650|chr17:15133798-15197525,chr17:14096997-15486650,chr17:14096997-15486650|chr17:15287341-15482010,chr17:14096997-15486650|chr17:15287341-15482010,chr17:14096997-15486650|chr17:15287341-15482010,chr17:14096997-15486650|chr17:15287341-15482010;B_gain_AFmax=0.01,0.01,0.01,0.01,0.01,0.272,0.272,0.272,0.01,0.01,0.01,0.01,0.01,0.01,0.01;B_loss_source=dbVar;B_loss_coord=chr17:14093499-15486000,chr17:14093499-15486000,chr17:14093499-15486000|chr17:14126839-14220873,chr17:14093499-15486000,chr17:14093499-15486000|chr17:14126839-14220873,chr17:14093499-15486000|chr17:14668589-15084842|chr17:14920183-14938805|chr17:14931264-14977742,chr17:14093499-15486000|chr17:14668589-15084842|chr17:14931264-14977742,chr17:14093499-15486000|chr17:14668589-15084842|chr17:14995672-15057656|chr17:14995771-15057475,chr17:14093499-15486000,chr17:14093499-15486000|chr17:15070858-15163533|chr17:15112458-15159531|chr17:15150741-15155583,chr17:14093499-15486000,chr17:14093499-15486000|chr17:15287341-15482010,chr17:14093499-15486000|chr17:15287341-15482010,chr17:14093499-15486000|chr17:15287341-15482010,chr17:14093499-15486000|chr17:15287341-15482010;B_loss_AFmax=0.01;po_B_gain_someG_source=chr17:14126839-14220873_dbVar|17:14191081-14191901_DDD:48801|chr17:14194000-14199000_dbVar|chr17:14224374-14483419_dbVar|17:14224375-14483419_esv3640026|chr17:14256910-14257055_dbVar|chr17:14298872-14298951_dbVar|chr17:14334186-14339815_dbVar|chr17:14447875-14456539_dbVar|chr17:14668589-15084842_dbVar|17:14668590-15084842_esv3640046|chr17:14685229-14700196_dbVar|chr17:15028960-15030846_dbVar|chr17:15133798-15197525_dbVar|chr17:15287341-15482010_dbVar|chr17:15332787-15332860_dbVar|;po_B_gain_someG_coord=chr17:14096997-15486650_dbVar|chr17:14159542-14160385_dbVar|17:14191081-14198547_DDD:48802|chr17:14216314-14217439_dbVar|17:14224375-14483419_1000g|chr17:14241867-14248195_dbVar|chr17:14284612-14628667_dbVar|chr17:14300914-14367997_dbVar|chr17:14386097-14390355_dbVar|chr17:14489639-14632921_dbVar|17:14668590-15084842_1000g|chr17:14670267-14671370_dbVar|chr17:14767901-14773352_dbVar|chr17:15118923-15125291_dbVar|chr17:15151620-15151916_dbVar|chr17:15323152-15369177_dbVar|chr17:15439000-15444000_dbVar;po_B_loss_someG_source=chr17:14096682-14108514_dbVar|chr17:14126839-14220873_dbVar|chr17:14155625-14155942_dbVar|chr17:14189910-14191555_dbVar|17:14189911-14191555_DDD:48799|17:14189911-14191555_esv2665541|17:14189911-14191557_1000g|17:14189912-14191555_IMH|17:14191081-14191901_DDD:48801|chr17:14220258-14221199_dbVar|17:14240918-14242023_DDD:48803|17:14240923-14242032_1000g|17:14240941-14242023_IMH|chr17:14241867-14248195_dbVar|chr17:14269249-14271950_dbVar|chr17:14277792-14278679_dbVar|chr17:14300414-14308117_dbVar|chr17:14314642-14320048_dbVar|chr17:14315900-14328444_dbVar|17:14332272-14332576_gnomAD-SV_v2.1_DEL_17_158748...;po_B_loss_someG_coord=chr17:14093499-15486000_dbVar|chr17:14105499-14108091_dbVar|chr17:14132469-14133456_dbVar|chr17:14186324-14196555_dbVar|chr17:14189910-14191557_dbVar|chr17:14189911-14191555_dbVar|17:14189911-14191555_gnomAD-SV_v2.1_DEL_17_158736|17:14189911-14191557_esv3640023|17:14190834-14191460_nsv574421|chr17:14210420-14210623_dbVar|chr17:14224374-14483419_dbVar|chr17:14240922-14242032_dbVar|17:14240923-14242032_esv3640027|chr17:14240941-14242023_dbVar|chr17:14256280-14258428_dbVar|chr17:14272755-14288592_dbVar|chr17:14284612-14628667_dbVar|chr17:14300914-14367997_dbVar|chr17:14314678-14320063_dbVar|chr17:14332272-14332576_dbVar...;Cosmic_ID=557088|527329|960663|960664|271780|2830900|301045|262086|573463|591221|586955|271781|581715|527330|468582|482431|573464|531792|306277|570216|937731|271782|162997|826587|816488|787511|784668|811329|831423|864749|823089|2560430|815034|813495|809567|835854|40950|162998|288724|470190|429012|345937|271783|304081|826588|59114|782435|984637|470191|429013|1070158|...,.,.,288724|470190|429012|271783|1070158,.,.,.,.,740803|342512,.,740806|740807|740808|54646|740809|740810,.,323831|1950846|1878175|1562489|1993654|39252,.,.;Cosmic_mut_typ=loss|gain,.,.,loss|gain,.,.,.,.,loss|gain,.,loss|gain,.,loss|gain,.,.;GC_content_left=0.505;GC_content_right=0.42;SegDup_right=17:15422954-15470900;HI=3,30,.,.,.,.,.,.,3,.,.,.,.,.,.;TS=.,.,.,.,.,.,.,.,0,.,.,.,.,.,.;DDD_HI_percent=96.58,60.22,96.58,42.95,.,.,.,.,40.48,.,59.06,86.77,52.33,.,49.2;ExAC_delZ=-2.62354415217069,-2.62354415217069,-2.62354415217069,-2.62354415217069,.,.,.,.,-2.62354415217069,.,-2.62354415217069,-2.62354415217069,-2.62354415217069,.,-2.62354415217069;ExAC_dupZ=-0.276965016632095,-2.20885612270982,-2.20416703243077,-0.276965016632095,.,.,.,.,-1.55852578268999,.,-1.25885348060374,-2.24141606178004,-2.53125239294469,.,-2.53125239294469;ExAC_cnvZ=-1.64032033771268,-2.47162789907313,-2.47162789907313,-1.64032033771268,.,.,.,.,-2.47162789907313,.,-2.47162789907313,-2.47162789907313,-2.47162789907313,.,-2.47162789907313;ExAC_synZ=3.6772325764896,0.16322796385632,1.67462394349301,3.6772325764896,.,.,.,.,-0.424806725478425,.,0.241972873531725,-0.193191475026352,0.433099426603836,.,0.622094281610252;ExAC_misZ=4.17517843763452,0.511864222455301,1.73432863871862,4.17517843763452,.,.,.,.,1.07197498670855,.,-0.405588628410555,0.152950560142403,0.962176598220999,.,0.322678575541803;GenCC_disease=.,Leigh_syndrome|cytochrome-c_oxidase_deficiency_disease|mitochondrial_complex_4_deficiency,_nuclear_type_3,.,.,.,.,.,.,Charcot-Marie-Tooth_disease_type_1A|Charcot-Marie-Tooth_disease_type_1E|Charcot-Marie-Tooth_disease_type_3|hereditary_neuropathy_with_liability_to_pressure_palsies,.,spermatogenic_failure_81,.,.,.,.;GenCC_moi=.,AR,.,.,.,.,.,.,AD,.,.,.,.,.,.;GenCC_classification=.,Definitive|Moderate|Strong|Supportive,.,.,.,.,.,.,Definitive|Moderate|Strong|Supportive,.,Limited,.,.,.,.;GenCC_pmid=.,10767350|10767350[PMID]_12928484[PMID]_15455402[PMID]|12928484|15455402|16103131|22622581|24100867,.,.,.,.,.,.,10330345|118220|12578939|162500|18698610[PMID]_12090401[PMID]|20301384[PMID]|23224996|24175617|601097|7931393|8355122|9143558|NULL,.,18951373|36708031,.,.,.,.;NCBI_gene_ID=.,1352,146822,9953,.,94150,.,94151,5376,100616125,64518,284040,100533496,94145,201158;OMIM_ID=602125|601097|612683,602125,.,.,.,.,.,.,601097,.,612683,.,.,.,.;OMIM_phenotype=.,Mitochondrial_complex_IV_deficiency,_nuclear_type_3,_619046_(3)_AR,.,.,.,.,.,.,?Neuropathy,_inflammatory_demyelinating,_139393_(3)_?AD|Charcot-Marie-Tooth_disease,_type_1A,_118220_(3)_AD|Charcot-Marie-Tooth_disease,_type_1E,_118300_(3)_AD|Dejerine-Sottas_disease,_145900_(3)_AD,AR|Neuropathy,_recurrent,_with_pressure_palsies,_162500_(3)_AD|Roussy-Levy_syndrome,_180800_(3)_AD,.,Spermatogenic_failure_81,_620277_(3)_AR,.,.,.,.;OMIM_inheritance=.,AR,.,.,.,.,.,.,?AD|AD|AD,AR,.,AR,.,.,.,.;OMIM_morbid=yes,yes,.,.,.,.,.,.,yes,.,yes,.,.,.,.;OMIM_morbid_candidate=yes,.,.,.,.,.,.,.,yes,.,.,.,.,.,.;LOEUF_bin=1,3,9,4,.,.,.,.,1,.,7,9,7,.,7;GnomAD_pLI=0.90958,0.08405,1.282e-06,0.29349,.,.,.,.,0.90958,.,1.9845e-17,0.095789,8.7378e-07,.,2.3189e-05;ExAC_pLI=0.83315,0.64657,0.0075064,0.085455,.,.,.,.,0.83315,.,3.1995e-14,0.24429,0.0023623,.,0.00013674;AnnotSV_ranking_score=1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2A_(cf_P_gain_source,_+1.00)|2H-2_(PMP22/TEKT3,_+0.00)|2J_(COX10,_+0.00)|2L_(TVP23C/TVP23C-CDRT4,_+0.00)|3A_(14_genes,_+0.00)|5F_(+0.00);ACMG_class=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5;END=15442066;SVLEN=1341947 GT 1/. 17 34437476 . T . PASS AnnotSV_ID=17_34437476_34817481_DUP_1;SV_start=34437476;Biologist_ranking=Benign;Annotation_mode=full,split,split,split,split,split,split,split;CytoBand=q12;Gene_name=TBC1D3B|CCL3L3|CCL4L2|TBC1D3I|CCL3L1|TBC1D3H|TBC1D3F,TBC1D3B,CCL3L3,CCL4L2,TBC1D3I,CCL3L1,TBC1D3H,TBC1D3F;Closest_left=CCL4;Closest_right=ZNHIT3;Gene_count=7;Tx=.,NM_001001417,NM_001001437,NM_001291471,NM_001291463,NM_021006,NM_001123392,NM_032258;Tx_version=.,7,4,2,2,5,4,5;Tx_start=.,34493062,34522267,34538464,34581084,34623841,34746118,34797171;Tx_end=.,34503996,34524157,34540275,34592039,34625731,34757005,34808058;Overlapped_tx_length=.,10934,1890,1811,10955,1890,10887,10887;Overlapped_CDS_length=.,1650,282,312,1650,282,1650,1650;Overlapped_CDS_percent=.,100,100,100,100,100,100,100;Frameshift=.,no,no,no,no,no,no,no;Exon_count=.,14,3,3,14,3,14,14;Location=.,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd;Location2=.,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR;Intersect_start=.,34493062,34522267,34538464,34581084,34623841,34746118,34797171;Intersect_end=.,34503996,34524157,34540275,34592039,34625731,34757005,34808058;RE_gene=PEX12_(morbid/RE=GH_enhancer)|PIGW_(morbid/RE=EA_enhancer)|ZNHIT3_(morbid/RE=ABC_enhancer+GH_enhancer);po_P_gain_phen=17q12_recurrent_(RCAD_syndrome)_region_(includes_HNF1B);po_P_gain_source=dbVar:nssv15149908|nssv15152170|dbVar:nssv15159024|dbVar:nssv15160732|dbVar:nssv15159027|dbVar:nssv15127236|dbVar:nssv15775117|dbVar:nssv15132421|dbVar:nssv15132422|dbVar:nssv15155541|dbVar:nssv18330713|dbVar:nssv15155542|dbVar:nssv15605916|dbVar:nssv16736632|dbVar:nssv15138685|dbVar:nssv15142873|dbVar:nssv15141421|dbVar:nssv15132229|nssv15139703|dbVar:nssv15125411|dbVar:nssv15125622|dbVar:nssv15130152|nssv15132345|nssv15139691|dbVar:nssv15135915|dbVar:nssv15124805|dbVar:nssv18842005|TS3:ISCA-37432|dbVar:nssv15132164|dbVar:nssv17649867|dbVar:nssv16215252|dbVar:nssv15123756|dbVar:nssv15133519|dbVar:nssv16736603|dbVar:nssv15135870;po_P_gain_coord=17:527-81041938|17:7215-81058310|17:8548-81060040|17:12345-81057996|17:16757564-81048189|17:21690654-38772647|17:34310999-36297053|17:34360169-36209228|17:34425363-36283612|17:34425364-36404555|17:34426245-36225988|17:34437476-36214026|17:34437476-36243028|17:34437483-36244358|17:34437483-36350584|17:34437483-36404555|17:34508118-36248918|17:34526602-36188734|17:34604365-36231917|17:34611353-36248918|17:34611353-36263019|17:34750819-36354738|17:34752222-36105007|17:34815073-36192489|17:34815185-36209228|17:34815467-36249366|17:34815552-36244358|17:34815552-36249800|17:34817423-36173763|17:34817423-36243028|17:34817423-36248918;po_P_gain_percent=0.47|0.47|0.47|0.47|0.59|2.22|19.13|20.55|20.45|19.20|21.11|21.39|21.05|21.03|19.86|19.32|17.77|17.50|13.09|12.59|12.48|4.16|4.82|0.17|0.16|0.14|0.14|0.13|0.00|0.00|0.00;po_P_loss_phen=17q12_recurrent_(RCAD_syndrome)_region_(includes_HNF1B);po_P_loss_source=dbVar:nssv18830976|dbVar:nssv15137372|dbVar:nssv8639331|dbVar:nssv15142228|dbVar:nssv15133035|dbVar:nssv17976904|dbVar:nssv15142015|dbVar:nssv15153182|dbVar:nssv15153183|dbVar:nssv15133261|dbVar:nssv15124226|dbVar:nssv15132100|nssv15139544|dbVar:nssv15127168|dbVar:nssv15133024|dbVar:nssv17955818|HI3:ISCA-37432|dbVar:nssv15149164|dbVar:nssv15129143|dbVar:nssv15130784|nssv15172799|dbVar:nssv15173493|dbVar:nssv15131818|dbVar:nssv15135737|dbVar:nssv15135591|dbVar:nssv15134619;po_P_loss_coord=17:30572863-35843988|17:34360169-36248859|17:34360228-36473024|17:34447114-36283612|17:34450406-36248918|17:34463924-36410559|17:34475680-36283612|17:34475680-36311009|17:34477386-36404555|17:34508118-36173763|17:34604365-36188734|17:34611353-36248918|17:34750819-81048189|17:34768967-36263019|17:34807070-36284994|17:34815073-36192489|17:34815073-36192492|17:34815552-36208392|17:34815552-36244358|17:34815552-36307189|17:34817423-36168104|17:34817423-36188700|17:34817423-36248918|17:34817423-36263019;po_P_loss_percent=7.21|20.12|17.99|20.17|20.41|18.16|18.91|18.62|17.65|18.57|13.45|12.59|0.14|3.25|0.70|0.17|0.17|0.14|0.14|0.13|0.00|0.00|0.00|0.00;B_gain_source=dgv122e55,DDD:49237|DDD:49240|DDD:49243|dbVar|dgv122e55|dgv3144n100|esv2760467|esv2762388,DDD:49237|DDD:49240|DDD:49243|DDD:49256|TS40:ISCA-46706|dbVar|dgv122e55|dgv3144n100|esv2760467|esv2762388|nsv514837,DDD:49237|DDD:49240|DDD:49256|dbVar|dgv122e55|dgv3144n100|esv2760467|esv2762388,DDD:49237|DDD:49240|dbVar|dgv122e55|dgv3144n100|esv2760467|esv2762388,DDD:49240|dbVar|dgv122e55|dgv3144n100|esv2760467|esv2762388|nsv514839,DDD:49240|dbVar|dgv122e55,dbVar|dgv122e55;B_gain_coord=17:34426246-34870708,17:34387632-34629696|chr17:34405281-34674805|17:34416538-34629684|17:34426246-34870708|17:34435513-34629696|17:34435674-34621060|17:34436438-34780239|chr17:34438389-34594251|chr17:34438389-34666383|17:34443777-34537005|chr17:34480907-34594251|chr17:34480907-34674805,17:34387632-34629696|chr17:34405281-34674805|17:34416538-34629684|17:34426246-34870708|17:34435513-34629696|17:34435674-34621060|17:34436438-34780239|chr17:34438389-34594251|chr17:34438389-34666383|17:34443777-34537005|chr17:34480907-34594251|chr17:34480907-34674805|chr17:34502750-34675848|17:34502930-34524195|17:34502941-34524192|17:34517741-34540630,17:34387632-34629696|chr17:34405281-34674805|17:34416538-34629684|17:34426246-34870708|17:34435513-34629696|17:34435674-34621060|17:34436438-34780239|chr17:34438389-34594251|chr17:34438389-34666383|chr17:34480907-34594251|chr17:34480907-34674805|chr17:34502750-34675848|17:34517741-34540630,17:34387632-34629696|chr17:34405281-34674805|17:34416538-34629684|17:34426246-34870708|17:34435513-34629696|17:34435674-34621060|17:34436438-34780239|chr17:34438389-34594251|chr17:34438389-34666383|chr17:34480907-34594251|chr17:34480907-34674805|chr17:34502750-34675848,17:34387632-34629696|chr17:34405281-34674805|17:34416538-34629684|17:34426246-34870708|17:34435513-34629696|17:34436438-34780239|chr17:34438389-34666383|chr17:34480907-34674805|chr17:34502750-34675848|chr17:34594251-34657961|chr17:34594251-34674805|17:34610042-34641487,17:34426246-34870708|17:34436438-34780239|chr17:34726651-34808825,17:34426246-34870708|chr17:34726651-34808825|chr17:34758000-34809000|chr17:34768932-34808825;B_gain_AFmax=0.03,0.1041,0.1041,0.0994,0.0994,0.0994,0.0994,0.03;B_loss_source=.,DDD:49240|DDD:49243,DDD:49240|DDD:49243|DDD:49256|HI40:ISCA-46698|dgv545e199,DDD:49240|DDD:49256|HI40:ISCA-46698|dgv545e199,DDD:49240,DDD:49240|dgv546e199,DDD:49240,.;B_loss_coord=.,17:34436438-34780239|17:34443777-34537005,17:34436438-34780239|17:34443777-34537005|17:34508446-34554792|17:34509780-34551554|17:34517741-34540630,17:34436438-34780239|17:34508446-34554792|17:34509780-34551554|17:34517741-34540630,17:34436438-34780239,17:34436438-34780239|17:34591446-34670592,17:34436438-34780239,.;B_loss_AFmax=.,0.0982,0.15,0.15,0.0982,0.1,0.0982,.;B_inv_source=IMH;B_inv_coord=17:30436599-65922464|17:32367054-60556542|17:32367223-60556516|17:32367435-60556508;B_inv_AFmax=0.2252;po_B_gain_someG_source=chr17:34405281-34480907_dbVar|17:34416412-34496071_nsv514836|17:34424712-34477480_dgv908e212|17:34426246-34870708_dgv122e55|17:34435513-34485079_dgv3148n100|17:34435674-34621060_DDD:49237|17:34436100-34482872_1000g|17:34436100-34482872_dgv572e214|chr17:34437000-34494000_dbVar|17:34437483-34477480_dgv910e212|chr17:34438389-34594251_dbVar|17:34443777-34537005_DDD:49243|chr17:34480907-34594251_dbVar|chr17:34493000-34503000_dbVar|17:34502930-34524195_nsv514837|17:34517741-34540630_DDD:49256|17:34580927-34587273_DDD:49263|chr17:34594251-34674805_dbVar|17:34625755-34641426_DDD:49271|chr17:34726651-34808825_dbVar...;po_B_gain_someG_coord=17:34387632-34629696_esv2762388|chr17:34405281-34674805_dbVar|17:34416538-34629684_dgv3144n100|17:34425364-34477387_dgv121e55|17:34431132-34484342_DDD:49235|17:34435513-34629696_esv2760467|chr17:34436099-34482872_dbVar|17:34436100-34482872_1000g|17:34436438-34780239_DDD:49240|17:34437129-34485091_esv2421587|chr17:34438389-34480907_dbVar|chr17:34438389-34666383_dbVar|chr17:34448629-34449060_dbVar|chr17:34480907-34674805_dbVar|chr17:34502750-34675848_dbVar|17:34502941-34524192_TS40:ISCA-46706|17:34538648-34540293_nsv514838|chr17:34594251-34657961_dbVar|17:34610042-34641487_nsv514839|chr17:34725848-34756800_dbVar...;po_B_loss_someG_source=17:34438323-34449809_DDD:49242|chr17:34445826-34446140_dbVar|17:34508446-34554792_dgv545e199|17:34517741-34540630_DDD:49256|chr17:34540766-34540825_dbVar|17:34580927-34587273_DDD:49263|17:34625755-34641426_DDD:49271|chr17:34642332-34642392_dbVar|17:34702019-34702094_DDD:49280|17:34762644-34775639_DDD:49288|chr17:34812000-36251000_dbVar;po_B_loss_someG_coord=17:34436438-34780239_DDD:49240|17:34443777-34537005_DDD:49243|17:34446621-34447535_DDD:49246|17:34509780-34551554_HI40:ISCA-46698|chr17:34528205-34528314_dbVar|17:34540766-34540825_gnomAD-SV_v2.1_DEL_17_159956|17:34591446-34670592_dgv546e199|chr17:34629804-34629885_dbVar|17:34642332-34642392_gnomAD-SV_v2.1_DEL_17_159958|17:34750173-34796456_DDD:49284|chr17:34808750-34815000_dbVar;Cosmic_ID=650936|666192|914982|843056|871448|792583|651331|1008133|1008390|1008393|1008397|1008403|1008404|1008414|1008416|1008428|1008433|1008436|940419|987474|2208771|1314448|1320799|1505611|965332|831456|791549|1587115|878636|1428723|1966753|1241176|2242284|2563085|874577|1206030|1721282|2234627|1868520|2161178|2592993|823129|719980|897048|899422|920618|881956|607486|916148|602398|892138|...,.,.,.,.,.,.,885243;Cosmic_mut_typ=loss|gain,.,.,.,.,.,.,gain;GC_content_left=0.435;GC_content_right=0.515;Repeat_coord_left=17:34437545-34437861;Repeat_type_left=7SLRNA;SegDup_left=17:34405992-34437446|17:34405992-34437446;DDD_HI_percent=94.43,94.43,88.85,84.65,.,88.49,93.12,93.73;ExAC_synZ=2.42746656950142,2.42746656950142,.,1.02068766819866,.,.,.,1.8673923772413;ExAC_misZ=2.41694262394586,2.41694262394586,.,1.31010018701924,.,.,.,2.14567117504116;NCBI_gene_ID=.,414059,414062,9560,414059,6349,729877,84218;OMIM_morbid_candidate=yes,.,.,.,.,yes,.,.;LOEUF_bin=7,7,9,9,.,9,.,9;GnomAD_pLI=0.31517,0.21949,0.31517,0.088586,.,0.12057,.,1.3666e-05;ExAC_pLI=0.63692,0.63692,.,0.48994,.,.,.,0.62038;AnnotSV_ranking_score=-1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2D_(cf_B_gain_source,_-1.00)|2B_(cf_po_P_gain_source,_TS,_OMIM_morbid,_+0.00)|3A_(7_genes,_+0.00)|5F_(+0.00);ACMG_class=1,full=1,full=1,full=1,full=1,full=1,full=1,full=1;END=34817481;SVLEN=380005 GT 1/. 17 44171889 . C . PASS AnnotSV_ID=17_44171889_44297143_DUP_1;SV_start=44171889;Biologist_ranking=Benign;Annotation_mode=full,split,split;CytoBand=q21.31;Gene_name=KANSL1|KANSL1-AS1,KANSL1,KANSL1-AS1;Closest_left=STH;Closest_right=ARL17B;Gene_count=2;Tx=.,NM_001193465,NR_034172;Tx_version=.,2,1;Tx_start=.,44107281,44270938;Tx_end=.,44302733,44274089;Overlapped_tx_length=.,125255,3151;Overlapped_CDS_length=.,1431,0;Overlapped_CDS_percent=.,43,0;Frameshift=.,no,no;Exon_count=.,16,2;Location=.,intron2-intron4,txStart-txEnd;Location2=.,5'UTR-CDS,UTR;Dist_nearest_SS=.,37,.;Nearest_SS_type=.,5',.;Intersect_start=.,44171888,44270938;Intersect_end=.,44297143,44274089;RE_gene=GOSR2_(morbid/RE=ABC_enhancer+GH_enhancer)|MAPT_(morbid/RE=ABC_enhancer)|NSF_(morbid/RE=EA_enhancer)|PLEKHM1_(morbid/RE=ABC_enhancer);po_P_gain_source=dbVar:nssv15149908|nssv15152170|dbVar:nssv15159024|dbVar:nssv15160732|dbVar:nssv15159027|dbVar:nssv15127236|dbVar:nssv15149626|dbVar:nssv15150382|dbVar:nssv16207328|dbVar:nssv15141990;po_P_gain_coord=17:527-81041938|17:7215-81058310|17:8548-81060040|17:12345-81057996|17:16757564-81048189|17:42580685-81085615|17:43655357-44292742|17:43655357-44784639|17:43710151-44292742;po_P_gain_percent=0.15|0.15|0.15|0.15|0.19|0.33|18.96|11.09|20.74;po_P_loss_phen=Koolen-De_Vries_syndrome,_610443_(3)_AD;po_P_loss_source=dbVar:nssv15127168|dbVar:nssv16215146|dbVar:nssv15141350|dbVar:nssv16254531|dbVar:nssv15124147|dbVar:nssv15135761|dbVar:nssv15137490|dbVar:nssv18330259|dbVar:nssv15129570|dbVar:nssv15138300|dbVar:nssv15137112|dbVar:nssv15132122|dbVar:nssv15132318|nssv15133093|dbVar:nssv15135170|dbVar:nssv15132284|nssv15139974|dbVar:nssv15136771|dbVar:nssv15136778|dbVar:nssv15132380|dbVar:nssv15173411|dbVar:nssv18329240|dbVar:nssv15133422|dbVar:nssv15143597|nssv15155552|dbVar:nssv15138826|dbVar:nssv15142266|nssv17976955|nssv18326376|dbVar:nssv15173506|dbVar:nssv15136011|dbVar:nssv15133428|dbVar:nssv15132370|nssv15140010|dbVar:nssv15132745|dbVar:nssv16091744|dbVar:nssv15135222|dbVar:nssv15161495|dbVar:nssv15129007|dbVar:nssv15152077|dbVar:nssv15132384|dbVar:nssv15136234|dbVar:nssv15132385|dbVar:nssv15133429|morbid:KANSL1|HI3:KANSL1|dbVar:nssv16252231;po_P_loss_coord=17:34750819-81048189|17:43559852-44248220|17:43585761-44248995|17:43586397-44212416|17:43592411-44249054|17:43593477-44224221|17:43622198-44201470|17:43622198-44212416|17:43629216-44399455|17:43648492-44214888|17:43651732-44351152|17:43653228-44351644|17:43655748-44176717|17:43655748-44224221|17:43655748-44351152|17:43656694-44176717|17:43656694-44694311|17:43675409-44351152|17:43685926-44212727|17:43693539-44212416|17:43693608-44176717|17:43703801-44212416|17:43703802-44187492|17:43703802-44212416|17:43705602-44208333|17:43706887-44171947|17:43706887-44176171|17:43706887-44176717|17:43706887-44207977|17:43706887-44210822|17:43706887-44351152|17:43706887-44694283|17:43706896-44762543|17:43710371-44212416|17:43715081-44176717|17:43717704-44345038|17:43717704-44351152|17:43751675-44351152|17:44107282-44302733|17:44107283-44302740|17:44174220-44481307;po_P_loss_percent=0.27|11.09|11.63|6.47|11.75|8.30|5.11|6.87|16.26|7.59|17.91|17.93|0.93|9.21|18.01|0.93|12.07|18.54|7.75|7.81|1.00|7.97|3.23|7.97|7.25|0.01|0.91|1.03|7.20|7.73|19.44|12.69|11.87|8.07|1.05|19.97|19.77|20.89|64.08|64.08|40.03;P_snvindel_nb=22,22,.;P_snvindel_phen=Inborn_genetic_diseases|Intellectual_disability|Koolen-de_Vries_syndrome|Neurodevelopmental_delay,Inborn_genetic_diseases|Intellectual_disability|Koolen-de_Vries_syndrome|Neurodevelopmental_delay,.;B_gain_source=DDD:49604|IMH|dbVar|dgv127e55|dgv128e55|dgv3181n100|esv2422002|esv2762433|nsv516807,DDD:49604|IMH|dbVar|dgv127e55|dgv128e55|dgv3181n100|esv2422002|esv2762433|nsv516807,DDD:49604|DDD:49608|DDD:49609|DDD:49611|DDD:49618|IMH|dbVar|dgv127e55|dgv128e55|dgv130e55|dgv3181n100|dgv367n27|dgv938e212|dgv939e212|dgv943e212|esv2422002|esv2760451|esv2762433|gnomAD-SV_v2.1_DUP_17_44188|nsv514850|nsv516807;B_gain_coord=17:43574135-44788194|17:43655786-44366714|17:44004973-44811116|17:44094472-44364056|17:44109475-44793283|chr17:44139347-44410871|17:44145590-44364158|chr17:44165250-44337661|chr17:44165250-44410871|17:44165804-44362009|17:44170038-44744285,17:43574135-44788194|17:43655786-44366714|17:44004973-44811116|17:44094472-44364056|17:44109475-44793283|chr17:44139347-44410871|17:44145590-44364158|chr17:44165250-44337661|chr17:44165250-44410871|17:44165804-44362009|17:44170038-44744285,17:43574135-44788194|17:43655786-44366714|17:44004973-44811116|17:44094472-44364056|17:44109475-44793283|chr17:44139347-44410871|17:44145590-44364158|17:44163926-44293020|chr17:44165250-44337661|chr17:44165250-44410871|17:44165703-44291551|17:44165804-44362009|17:44170038-44744285|17:44175518-44443972|17:44176859-44397890|17:44187493-44292742|17:44187493-44364056|17:44187493-44789621|17:44194107-44762405|17:44208145-44764994|chr17:44208362-44406622|chr17:44208362-44787272|17:44212647-44369642|chr17:44212745-44369562|17:44212745-44369562|17:44212825-44276618|17:44249111-44320939;B_gain_AFmax=0.17,0.17,0.5406;B_loss_source=esv2762433,esv2762433,DDD:49609|DDD:49611|dgv940e212|dgv941e212|esv2760451|esv2762433;B_loss_coord=17:43574135-44788194,17:43574135-44788194,17:43574135-44788194|17:44176859-44397890|17:44190672-44785015|17:44194107-44762405|17:44208145-44764994|17:44212311-44292742;B_loss_AFmax=0.07,0.07,0.2994;B_inv_source=IMH;B_inv_coord=17:30436599-65922464|17:32367054-60556542|17:32367223-60556516|17:32367435-60556508|17:43662689-44338152|17:43664434-44336296|17:43681870-44318931,17:30436599-65922464|17:32367054-60556542|17:32367223-60556516|17:32367435-60556508|17:43662689-44338152|17:43664434-44336296|17:43681870-44318931,17:30436599-65922464|17:32367054-60556542|17:32367223-60556516|17:32367435-60556508|17:43662689-44338152|17:43664434-44336296|17:43681870-44318931|17:43702611-44296817;B_inv_AFmax=0.2252;po_B_gain_someG_source=17:43655786-44366714_IMH|17:44094472-44364056_dgv128e55|chr17:44139347-44410871_dbVar|17:44149791-44248860_DDD:49602|chr17:44165000-44217000_dbVar|chr17:44165250-44337661_dbVar|chr17:44165338-44211686_dbVar|17:44165339-44211686_1000g|17:44165703-44291551_nsv514850|17:44170038-44744285_DDD:49604|17:44175518-44443972_DDD:49608|17:44176859-44397890_DDD:49609|17:44187493-44292742_dgv938e212|17:44187493-44789621_dgv939e212|17:44208145-44764994_esv2760451|chr17:44208362-44787272_dbVar|17:44212647-44369642_IMH|17:44212745-44369562_gnomAD-SV_v2.1_DUP_17_44188|17:44223908-44224221_1000g|chr17:44224197-44224935_dbVar...;po_B_gain_someG_coord=17:43574135-44788194_esv2762433|17:44004973-44811116_dgv127e55|17:44109475-44793283_nsv516807|17:44145590-44364158_dgv3181n100|17:44163926-44293020_dgv367n27|17:44165000-44217000_gnomAD-SV_v2.1_DUP_17_44187|chr17:44165250-44410871_dbVar|17:44165339-44211686_1000g|17:44165339-44211686_dgv575e214|17:44165804-44362009_esv2422002|17:44170285-44212803_DDD:49606|17:44176395-44176717_1000g|17:44187493-44214094_dgv937e212|17:44187493-44364056_dgv130e55|17:44194107-44762405_DDD:49611|chr17:44208362-44406622_dbVar|17:44209763-44267388_DDD:49612|chr17:44212745-44369562_dbVar|17:44212825-44276618_dgv943e212|chr17:44223933-44224949_dbVar...;po_B_loss_someG_source=17:44170285-44212803_DDD:49606|chr17:44176395-44176717_dbVar|chr17:44176407-44176807_dbVar|17:44176859-44397890_DDD:49609|17:44190672-44785015_dgv940e212|chr17:44192997-44193064_dbVar|17:44208145-44764994_esv2760451|chr17:44223760-44224221_dbVar|17:44223908-44224221_1000g|17:44223908-44224221_esv2662030|chr17:44265262-44265312_dbVar|;po_B_loss_someG_coord=17:43574135-44788194_esv2762433|17:44176395-44176717_1000g|17:44176395-44176717_esv2675570|17:44176407-44176807_gnomAD-SV_v2.1_DEL_17_160649|chr17:44179666-44182382_dbVar|chr17:44192422-44192507_dbVar|17:44194107-44762405_DDD:49611|17:44212311-44292742_dgv941e212|17:44223760-44224221_gnomAD-SV_v2.1_DEL_17_160652|chr17:44223908-44224221_dbVar|chr17:44256597-44256681_dbVar|chr17:44278890-44279167_dbVar;Cosmic_ID=992416|992452|992460|971439|2822283|936188|699111|763559|763560|1997544|2228707|2896576|3037823|1274013|2348966|933569|2715621|989025|2410443|70215|987476|453497|942828|2644184|1145788|1665693|1853738|2618991|2839546|2972078|2976287|688566|1021567|1021568|663556|1248933|3054208|1140557|1022169|2074112|2606291|1357512|1134448|2027524|2282991|667879|670841|2478215|2750031|3067029|468614|...,992416|992452|992460|971439|2822283|936188|699111|763559|763560|1997544|2228707|2896576|3037823|1274013|2348966|933569|2715621|989025|2410443|70215|987476|453497|942828|2644184|1145788|1665693|1853738|2618991|2839546|2972078|2976287|688566|1021567|1021568|663556|1248933|3054208|1140557|1022169|2074112|2606291|1357512|1134448|2027524|2282991|667879|670841|2478215|2750031|3067029|468614|...,.;Cosmic_mut_typ=loss|gain,loss|gain,.;GC_content_left=0.38;GC_content_right=0.46;Repeat_coord_right=17:44297188-44297495;Repeat_type_right=AluY;SegDup_left=17:44164882-44183555;SegDup_right=17:44294406-44329730;HI=3,3,.;TS=.,0,.;DDD_HI_percent=16.23,16.23,.;ExAC_synZ=-0.71959827485963,-0.71959827485963,.;ExAC_misZ=0.443929223699058,0.443929223699058,.;GenCC_disease=.,Koolen-de_Vries_syndrome|Koolen-de_Vries_syndrome_due_to_a_point_mutation,.;GenCC_moi=.,AD,.;GenCC_classification=.,Definitive|Strong|Supportive,.;GenCC_pmid=.,22544363|22544363[PMID]_22544367[PMID]_20301783[PMID]|22544367,.;NCBI_gene_ID=.,284058,644246;OMIM_ID=612452,612452,.;OMIM_phenotype=.,Koolen-De_Vries_syndrome,_610443_(3)_AD,.;OMIM_inheritance=.,AD,.;OMIM_morbid=yes,yes,.;LOEUF_bin=0,0,.;GnomAD_pLI=0.99972,0.99972,.;ExAC_pLI=0.99973,0.99973,.;AnnotSV_ranking_score=-1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2D_(cf_B_gain_source,_-1.00)|2B_(cf_po_P_gain_source,_TS,_OMIM_morbid,_+0.00)|2E_(cf_B_gain_source,_+0.00)|2I-3_(KANSL1,_+0.00)|3A_(2_genes,_+0.00)|5F_(+0.00);ACMG_class=1,full=1,full=1;END=44297143;SVLEN=125254 GT 1/. -22 18894836 . C . PASS AnnotSV_ID=22_18894836_21464119_DEL_1;SV_start=18894836;Biologist_annotation=Di_George_syndrom;Biologist_ranking=Pathogenic;Annotation_mode=full,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split;CytoBand=q11.21;Gene_name=DGCR6|PRODH|LOC122455341|DGCR5|FAM246C|DGCR2|DGCR11|ESS2|TSSK2|GSC2|LINC01311|SLC25A1|CLTCL1|HIRA|MRPL40|C22orf39|UFD1|CDC45|CLDN5|LINC00895|SEPTIN5|SEPT5-GP1BB|GP1BB|TBX1|GNB1L|RTL10|TXNRD2|COMT|MIR4761|ARVCF|TANGO2|MIR185|DGCR8|MIR3618|MIR1306|TRMT2A|MIR6816|RANBP1|SNORA77B|ZDHHC8|CCDC188|LINC02891|LINC00896|RTN4R|MIR1286|DGCR6L|FAM230A|GGTLC3|TMEM191B|PI4KAP1|RIMBP3|FAM246B|FAM230J|FAM230G|ZNF74|SCARF2|KLHL22|MED15|POM121L4P|TMEM191A|PI4KA|SERPIND1|SNAP29|CRKL|LINC01637|AIFM3|LZTR1|THAP7|THAP7-AS1|TUBA3FP|P2RX6|SLC7A4|MIR649|P2RX6P|LRRC74B|BCRP2,DGCR6,PRODH,LOC122455341,DGCR5,FAM246C,DGCR2,DGCR11,ESS2,TSSK2,GSC2,LINC01311,SLC25A1,CLTCL1,HIRA,MRPL40,C22orf39,UFD1,CDC45,CLDN5,LINC00895,SEPTIN5,SEPT5-GP1BB,GP1BB,TBX1,GNB1L,RTL10,TXNRD2,COMT,MIR4761,ARVCF,TANGO2,MIR185,DGCR8,MIR3618,MIR1306,TRMT2A,MIR6816,RANBP1,SNORA77B,ZDHHC8,CCDC188,LINC02891,LINC00896,RTN4R,MIR1286,DGCR6L,FAM230A,GGTLC3,TMEM191B,PI4KAP1,RIMBP3,FAM246B,FAM230J,FAM230G,ZNF74,SCARF2,KLHL22,MED15,POM121L4P,TMEM191A,PI4KA,SERPIND1,SNAP29,CRKL,LINC01637,AIFM3,LZTR1,THAP7,THAP7-AS1,TUBA3FP,P2RX6,SLC7A4,MIR649,P2RX6P,LRRC74B,BCRP2;Closest_left=FAM230F;Closest_right=LOC102724728;Gene_count=76;Tx=.,NM_005675,NM_016335,NR_173081,NR_110533,NM_001396027,NM_005137,NR_024157,NM_022719,NM_053006,NM_005315,NR_103767,NM_001256534,NM_007098,NM_003325,NM_003776,NM_173793,NM_005659,NM_001178010,NM_001130861,NR_024381,NM_002688,NR_037611,NM_000407,NM_001379200,NM_053004,NM_024627,NM_006440,NM_000754,NR_039918,NM_001670,NM_001322141,NR_029706,NM_022720,NR_037412,NR_031706,NM_001331039,NR_106874,NM_001278639,NR_145765,NM_001185024,NM_001365892,NR_038460,NR_026919,NM_023004,NR_031618,NM_033257,NR_165629,NM_001355479,NM_001242313,NR_003563,NM_015672,NM_001396026,NR_136569,NR_165637,NM_001256524,NM_153334,NM_032775,NM_001003891,NR_024592,NR_026815,NM_058004,NM_000185,NM_004782,NM_005207,NR_110537,NM_144704,NM_006767,NM_030573,NR_027051,NR_003608,NM_001394691,NM_004173,NR_030379,NR_002829,NM_001291006,NR_037566;Tx_version=.,6,6,1,2,1,3,1,3,5,2,1,2,4,4,4,5,7,2,1,1,6,1,5,1,3,6,5,4,1,3,2,1,7,1,1,2,1,2,1,2,2,2,1,6,1,4,1,1,1,1,2,1,2,1,2,7,4,3,1,1,4,4,4,4,1,3,4,3,1,1,1,3,1,1,2,1;Tx_start=.,18893832,18900293,18926981,18957980,19017036,19023798,19033674,19117791,19118820,19134505,19159218,19163093,19166985,19318220,19420067,19428408,19437433,19467348,19510546,19553652,19702025,19704742,19711061,19748300,19770745,19833668,19863044,19929294,19951275,19957418,20008632,20020661,20067763,20073268,20073580,20099397,20102208,20103626,20113924,20119326,20135938,20186251,20193854,20228937,20236656,20301760,20326419,20366210,20377668,20383730,20455681,20483850,20632119,20689194,20748440,20778873,20795805,20861896,21043842,21055401,21061978,21128400,21213294,21271694,21311379,21319459,21336585,21353392,21356210,21362491,21369453,21383006,21388464,21396680,21400234,21457304;Tx_end=.,18899601,18923806,18935206,19018755,19017734,19109925,19035888,19132164,19120135,19137805,19160345,19166018,19279242,19419256,19423598,19435234,19466716,19508135,19512860,19554362,19710842,19712297,19712294,19754857,19842397,19842397,19929341,19957498,19951357,20004346,20054687,20020743,20099395,20073356,20073665,20104749,20102274,20114878,20114049,20135530,20138578,20192441,20196060,20255841,20236734,20307583,20350461,20368028,20380440,20398695,20461786,20484549,20656858,20706786,20762745,20792112,20850082,20941906,21046009,21058891,21213099,21142008,21245502,21308035,21318968,21335647,21353321,21356407,21364663,21368576,21382297,21386850,21388561,21398538,21418457,21476575;Overlapped_tx_length=.,4766,23513,8225,60775,698,86127,2214,14373,1315,3300,1127,2925,112257,101036,3531,6826,29283,40787,2314,710,8817,7555,1233,6557,71652,8729,66297,28204,82,46928,46055,82,31632,88,85,5352,66,11252,125,16204,2640,6190,2206,26904,78,5823,24042,1818,2772,14965,6105,699,24739,17592,14305,13239,54277,80010,2167,3490,151121,13608,32208,36341,7589,16188,16736,3015,8453,6085,12844,3844,97,1858,18223,6815;Overlapped_CDS_length=.,392,1803,0,0,696,1653,0,1431,1077,618,0,957,4923,3054,621,318,924,1797,912,0,1110,0,621,1515,984,1095,1575,816,0,2889,1110,0,2322,0,0,1932,0,837,0,2337,1209,0,0,1422,0,663,0,678,1041,0,4920,699,0,0,1935,2607,1905,2367,0,0,6309,1500,777,912,0,1818,2523,930,0,0,1422,1908,0,0,1179,0;Overlapped_CDS_percent=.,59,100,0,0,100,100,0,100,88,100,0,100,100,100,100,100,100,100,52,0,100,0,100,100,100,82,100,100,0,100,100,0,100,0,0,100,0,100,0,100,100,0,0,100,0,100,0,100,100,0,91,100,0,0,100,100,100,100,0,0,100,100,100,100,0,100,100,100,0,0,100,100,0,0,100,0;Frameshift=.,yes,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no;Exon_count=.,5,14,2,6,3,10,1,10,1,3,1,8,33,25,4,3,12,20,1,1,12,12,2,7,8,3,18,6,1,20,9,1,14,1,1,12,1,6,1,11,9,4,1,2,1,5,12,6,9,15,1,1,9,7,6,14,7,18,1,8,55,5,5,3,2,21,21,4,2,3,12,5,1,2,10,6;Location=.,intron2-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-intron1;Location2=.,CDS-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR;Dist_nearest_SS=.,597,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,6098;Nearest_SS_type=.,5',.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,3';Intersect_start=.,18894835,18900293,18926981,18957980,19017036,19023798,19033674,19117791,19118820,19134505,19159218,19163093,19166985,19318220,19420067,19428408,19437433,19467348,19510546,19553652,19702025,19704742,19711061,19748300,19770745,19833668,19863044,19929294,19951275,19957418,20008632,20020661,20067763,20073268,20073580,20099397,20102208,20103626,20113924,20119326,20135938,20186251,20193854,20228937,20236656,20301760,20326419,20366210,20377668,20383730,20455681,20483850,20632119,20689194,20748440,20778873,20795805,20861896,21043842,21055401,21061978,21128400,21213294,21271694,21311379,21319459,21336585,21353392,21356210,21362491,21369453,21383006,21388464,21396680,21400234,21457304;Intersect_end=.,18899601,18923806,18935206,19018755,19017734,19109925,19035888,19132164,19120135,19137805,19160345,19166018,19279242,19419256,19423598,19435234,19466716,19508135,19512860,19554362,19710842,19712297,19712294,19754857,19842397,19842397,19929341,19957498,19951357,20004346,20054687,20020743,20099395,20073356,20073665,20104749,20102274,20114878,20114049,20135530,20138578,20192441,20196060,20255841,20236734,20307583,20350461,20368028,20380440,20398695,20461786,20484549,20656858,20706786,20762745,20792112,20850082,20941906,21046009,21058891,21213099,21142008,21245502,21308035,21318968,21335647,21353321,21356407,21364663,21368576,21382297,21386850,21388561,21398538,21418457,21464119;RE_gene=ABL1_(morbid/RE=mTL_miRNA)|ACTN4_(morbid/RE=mTL_miRNA)|ACVR2B_(morbid/RE=mTL_miRNA)|ADA2_(morbid/RE=ABC_enhancer)|ADAR_(morbid/RE=mTL_miRNA)|ADH5_(morbid/RE=mTL_miRNA)|AFF2_(HI=3/morbid/RE=mTL_miRNA)|AGO1_(morbid/RE=mTL_miRNA)|AGO2_(morbid/RE=mTL_miRNA)|AHI1_(morbid/RE=mTL_miRNA)|AKT1_(morbid/RE=mTL_miRNA)|ALG1_(morbid/RE=mTL_miRNA)|AMH_(morbid/RE=mTL_miRNA)|APCDD1_(morbid/RE=mTL_miRNA)|AR_(HI=3/morbid/RE=mTL_miRNA)|ARID1A_(HI=3/morbid/RE=mTL_miRNA)|ASH1L_(HI=3/morbid/RE=mTL_miRNA)|ATM_(HI=3/morbid/RE=mTL_miRNA)|ATP6AP1_(morbid/RE=mTL_miRNA)|ATP6V0A2_(morbid/RE=mTL_miRNA)|ATP6V1E1_(morbid/RE=ABC_enhancer)|ATR_(morbid/RE=mTL_miRNA)|B4GALT1_(morbid/RE=mTL_miRNA)|BACH1_(morbid/RE=mTL_miRNA)|BAP1_(HI=3/morbid/RE=mTL_miRNA)|BBS5_(morbid/RE=mTL_miRNA)|BCL10_(morbid/RE=mTL_miRNA)|BMPR1A_(HI=3/morbid/RE=mTL_miRNA)|BNC2_(morbid/RE=mTL_miRNA)|BRD4_(morbid/RE=mTL_miRNA)|C3_(morbid/RE=mTL_miRNA)|CACNA1C_(morbid/RE=mTL_miRNA)|CAD_(morbid/RE=mTL_miRNA)|CALM3_(morbid/RE=mTL_miRNA)|CAPN15_(morbid/RE=mTL_miRNA)|CASP14_(morbid/RE=mTL_miRNA)|CBL_(morbid/RE=mTL_miRNA)|CCDC134_(morbid/RE=mTL_miRNA)|CCND2_(morbid/RE=mTL_miRNA)|CCNQ_(morbid/RE=mTL_miRNA)|CDC42_(morbid/RE=mTL_miRNA)|CEP104_(morbid/RE=mTL_miRNA)|CERS1_(morbid/RE=mTL_miRNA)|CHRDL1_(HI=3/morbid/RE=mTL_miRNA)|CLCC1_(morbid/RE=mTL_miRNA)|CLCN7_(morbid/RE=mTL_miRNA)|CLDN16_(morbid/RE=mTL_miRNA)|CLPB_(morbid/RE=mTL_miRNA)|CNBP_(morbid/RE=mTL_miRNA)|CNNM4_(morbid/RE=mTL_miRNA)...;P_gain_phen=22q11.2_recurrent_(DGS/VCFS)_region_(proximal,_A-B)_(includes_TBX1);P_gain_source=TS3:ISCA-37433|dbVar:nssv15121202|dbVar:nssv15132168|dbVar:nssv15132429|dbVar:nssv15132430|dbVar:nssv15132553|dbVar:nssv15132642|nssv15139997|dbVar:nssv15132749|dbVar:nssv15133139|dbVar:nssv15133442|dbVar:nssv15133527|dbVar:nssv15133528|dbVar:nssv15133531|dbVar:nssv15133921|dbVar:nssv15134211|dbVar:nssv15134239|dbVar:nssv15134353|dbVar:nssv15136015|dbVar:nssv15137439|dbVar:nssv15138177|dbVar:nssv15138869|dbVar:nssv15140282|dbVar:nssv15141369|dbVar:nssv15153269|dbVar:nssv15156361|dbVar:nssv15605811|dbVar:nssv15605831|dbVar:nssv15605876|dbVar:nssv15755816|dbVar:nssv16207465|dbVar:nssv16736612|dbVar:nssv16736616|dbVar:nssv18830899|dbVar:nssv18830992;P_gain_coord=22:18894836-20311784|22:18894836-21461752|22:18894836-21464119|22:18896973-21440514|22:18900756-21075586|22:18908833-21358123|22:18909039-21440514|22:18909045-21464119|22:18912232-20287208|22:18912515-21431174|22:18916828-21050078|22:18916829-20312661|22:18916843-20311810|22:18916843-20311858|22:18916843-20312661|22:18919943-20311763|22:18919943-20659606|22:18919943-20708934|22:18919943-21440514|22:18923899-21431174|22:18937381-21459713|22:18938162-21455556|22:18950767-21455556|22:18970562-21040836|22:18973253-21435405|22:19168759-20942862|22:20895156-21374512|22:20958985-21379958|22:21044197-21440455|22:21045039-21455556|22:21065883-21440455|22:21081261-21440455|22:21086707-21445960|22:21300291-21331188;P_loss_phen=22q11.2_recurrent_(DGS/VCFS)_region_(proximal,_A-B)_(includes_TBX1)|Bernard-Soulier_syndrome,_type_B,_231200_(3)_AR|Giant_platelet_disorder,_isolated,_231200_(3)_AR|Cerebral_dysgenesis,_neuropathy,_ichthyosis,_and_palmoplantar_keratoderma_syndrome,_609528_(3)_AR|Combined_D-2-_and_L-2-hydroxyglutaric_aciduria,_615182_(3)_AR|Myasthenic_syndrome,_congenital,_23,_presynaptic,_618197_(3)_AR|Conotruncal_anomaly_face_syndrome,_217095_(3)|DiGeorge_syndrome,_188400_(3)_AD|Tetralogy_of_Fallot,_187500_(3)_AD|Velocardiofacial_syndrome,_192430_(3)_AD|Gastrointestinal_defects_and_immunodeficiency_syndrome_2,_619708_(3)_AR|Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis,_616531_(3)_AR|Spastic_paraplegia_84,_AR,_619621_(3)_AR|Hyperprolinemia,_type_I,_239500_(3)_AR|Schizophrenia,_susceptibility_to,_4,_600850_(3)_AD|Metabolic_encephalomyopathic_crises,_recurrent,_with_rhabdomyolysis,_cardiac_arrhythmias,_and_neurodegeneration,_616878_(3)_AR|Noonan_syndrome_10,_616564_(3)_AD|Noonan_syndrome_2,_605275_(3)_AR|Schwannomatosis-2,_susceptibility_to,_615670_(3)_AD|Recurrent_metabolic_encephalomyopathic_crises-rhabdomyolysis-cardiac_arrhythmia-intellectual_disability_syndrome|Cardiac_arrhythmia|Seizure|Acute_rhabdomyolysis|Episodic_flaccid_weakness|Intellectual_disability|Thrombophilia_10_due_to_heparin_cofactor_II_deficiency,_612356_(3)_AD|Van_den_Ende-Gupta_syndrome,_600920_(3)_AR||DiGeorge_syndrome,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Bernard-Soulier_syndrome,_type_B,_231200_(3)_AR|Giant_platelet_disorder,_isolated,_231200_(3)_AR,Bernard-Soulier_syndrome,_type_B,_231200_(3)_AR|Giant_platelet_disorder,_isolated,_231200_(3)_AR,Conotruncal_anomaly_face_syndrome,_217095_(3)|DiGeorge_syndrome,_188400_(3)_AD|Tetralogy_of_Fallot,_187500_(3)_AD|Velocardiofacial_syndrome,_192430_(3)_AD||DiGeorge_syndrome,.,.,.,.,.,.,Metabolic_encephalomyopathic_crises,_recurrent,_with_rhabdomyolysis,_cardiac_arrhythmias,_and_neurodegeneration,_616878_(3)_AR|Recurrent_metabolic_encephalomyopathic_crises-rhabdomyolysis-cardiac_arrhythmia-intellectual_disability_syndrome|Cardiac_arrhythmia|Seizure|Acute_rhabdomyolysis|Episodic_flaccid_weakness|Intellectual_disability,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Van_den_Ende-Gupta_syndrome,_600920_(3)_AR,.,.,.,.,Gastrointestinal_defects_and_immunodeficiency_syndrome_2,_619708_(3)_AR|Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis,_616531_(3)_AR|Spastic_paraplegia_84,_AR,_619621_(3)_AR|Thrombophilia_10_due_to_heparin_cofactor_II_deficiency,_612356_(3)_AD,Thrombophilia_10_due_to_heparin_cofactor_II_deficiency,_612356_(3)_AD,Cerebral_dysgenesis,_neuropathy,_ichthyosis,_and_palmoplantar_keratoderma_syndrome,_609528_(3)_AR,.,.,.,Noonan_syndrome_10,_616564_(3)_AD|Noonan_syndrome_2,_605275_(3)_AR|Schwannomatosis-2,_susceptibility_to,_615670_(3)_AD,.,.,.,.,.,.,.,.,.;P_loss_hpo=HP:0000730|HP:0001249|HP:0001250|HP:0001267|HP:0001275|HP:0001286|HP:0001303|HP:0001656|HP:0001661|HP:0001665|HP:0001666|HP:0001687|HP:0001721|HP:0002122|HP:0002125|HP:0002182|HP:0002192|HP:0002279|HP:0002306|HP:0002316|HP:0002348|HP:0002382|HP:0002386|HP:0002391|HP:0002402|HP:0002417|HP:0002430|HP:0002431|HP:0002432|HP:0002434|HP:0002437|HP:0002458|HP:0002466|HP:0002479|HP:0002482|HP:0002499|HP:0002543|HP:0002794|HP:0003752|HP:0003767|HP:0004351|HP:0005158|HP:0006833|HP:0006997|HP:0007154|HP:0007176|HP:0007180|HP:0008942|HP:0010520|HP:0011675,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,HP:0000730|HP:0001249|HP:0001250|HP:0001267|HP:0001275|HP:0001286|HP:0001303|HP:0001656|HP:0001661|HP:0001665|HP:0001666|HP:0001687|HP:0001721|HP:0002122|HP:0002125|HP:0002182|HP:0002192|HP:0002279|HP:0002306|HP:0002316|HP:0002348|HP:0002382|HP:0002386|HP:0002391|HP:0002402|HP:0002417|HP:0002430|HP:0002431|HP:0002432|HP:0002434|HP:0002437|HP:0002458|HP:0002466|HP:0002479|HP:0002482|HP:0002499|HP:0002543|HP:0002794|HP:0003752|HP:0003767|HP:0004351|HP:0005158|HP:0006833|HP:0006997|HP:0007154|HP:0007176|HP:0007180|HP:0008942|HP:0010520|HP:0011675,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_loss_source=CLN:226591|CLN:2871255|CLN:959024|HI3:ISCA-37433|dbVar:nssv15119864|dbVar:nssv15120710|dbVar:nssv15124351|dbVar:nssv15124515|dbVar:nssv15129189|dbVar:nssv15130834|dbVar:nssv15130929|dbVar:nssv15131088|dbVar:nssv15131611|dbVar:nssv15132323|nssv15139981|dbVar:nssv15132334|dbVar:nssv15132747|dbVar:nssv15132748|dbVar:nssv15132933|dbVar:nssv15132934|dbVar:nssv15132935|dbVar:nssv15132939|dbVar:nssv15133099|dbVar:nssv15133185|dbVar:nssv15133186|dbVar:nssv15133443|dbVar:nssv15133817|dbVar:nssv15134350|nssv15139984|dbVar:nssv15134354|dbVar:nssv15134360|dbVar:nssv15134361|dbVar:nssv15134635|dbVar:nssv15134703|dbVar:nssv15134820|dbVar:nssv15134849|dbVar:nssv15136233|dbVar:nssv15137726|dbVar:nssv15137759|dbVar:nssv15137802|dbVar:nssv15138106|dbVar:nssv15138475|dbVar:nssv15139405|dbVar:nssv15139434|dbVar:nssv15139445|nssv15774763|dbVar:nssv15139759|dbVar:nssv15140043|dbVar:nssv15140048|dbVar:nssv15140057|dbVar:nssv15141198|dbVar:nssv15141722|dbVar:nssv15142496|dbVar:nssv15143197|dbVar:nssv15143645|dbVar:nssv15144279|dbVar:nssv15144449|dbVar:nssv15153165|dbVar:nssv15154011|dbVar:nssv15155693|dbVar:nssv15156360|dbVar:nssv15162020|dbVar:nssv15162021|dbVar:nssv15605807|dbVar:nssv15605829|dbVar:nssv15605830|nssv16216546|dbVar:nssv15605834|dbVar:nssv15755310|dbVar:nssv15755712|dbVar:nssv15755812|dbVar:nssv15770037|dbVar:nssv15770783|dbVar:nssv15770877|dbVar:nssv15772938|nssv15773614|nssv15775115|nssv15775184|nssv15775592|dbVar:nssv15772982|dbVar:nssv15775129|dbVar:nssv15776509|dbVar:nssv15776863|dbVar:nssv15776865|dbVar:nssv15776871|dbVar:nssv16208595|dbVar:nssv16208596|dbVar:nssv16212111|dbVar:nssv16213307|dbVar:nssv16213808|dbVar:nssv16214784|dbVar:nssv16215255|dbVar:nssv16215257|dbVar:nssv16216543|dbVar:nssv16216544|nssv8639845|nssv15161831|dbVar:nssv16254574|dbVar:nssv16254739|dbVar:nssv16255831|dbVar:nssv16736634|dbVar:nssv17171460|nssv17974163|dbVar:nssv17171461|dbVar:nssv17171462|dbVar:nssv17171559|dbVar:nssv17171582|dbVar:nssv17171772|dbVar:nssv17649936|dbVar:nssv17649973|dbVar:nssv17955605|dbVar:nssv17955606|dbVar:nssv17955868|dbVar:nssv17970829|dbVar:nssv17971092|dbVar:nssv17971094|dbVar:nssv17971356|dbVar:nssv17971399|dbVar:nssv17977042|dbVar:nssv18329601|dbVar:nssv18329824|dbVar:nssv18330264|dbVar:nssv18330322|dbVar:nssv18330820|dbVar:nssv18786380|dbVar:nssv18790095|dbVar:nssv18792883|dbVar:nssv18841927|nssv18830898|dbVar:nssv8639589|nssv15122532|morbid:GP1BB|morbid:LZTR1|morbid:PI4KA|morbid:PRODH|morbid:SCARF2|morbid:SERPIND1|morbid:SLC25A1|morbid:SNAP29|morbid:TANGO2|morbid:TBX1,.,dbVar:nssv17649973|dbVar:nssv17971399,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,dbVar:nssv15124515,.,.,.,dbVar:nssv17977042|morbid:GP1BB,dbVar:nssv17977042|morbid:GP1BB,CLN:959024|morbid:TBX1,.,.,.,.,.,.,CLN:226591|dbVar:nssv15770877|dbVar:nssv15772938|nssv15773614|nssv15775115|nssv15775184|nssv15775592|dbVar:nssv15772982|dbVar:nssv15775129|dbVar:nssv16216543|dbVar:nssv17171772|dbVar:nssv17971094|dbVar:nssv18790095|dbVar:nssv8639589|nssv15122532|morbid:TANGO2,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,morbid:SCARF2,.,.,.,.,morbid:PI4KA|morbid:SERPIND1,morbid:SERPIND1,morbid:SNAP29,.,.,.,CLN:2871255|dbVar:nssv17171582|dbVar:nssv17971092|morbid:LZTR1,.,.,.,.,.,.,.,.,.;P_loss_coord=22:18894836-20238206|22:18894836-20311763|22:18894836-20659606|22:18894836-21440514|22:18894836-21461752|22:18894836-21461811|22:18894836-21464119|22:18896973-20311763|22:18896973-21382953|22:18896973-21440514|22:18899288-18925066|22:18900294-18924066|22:18900295-18923806|22:18900443-21440514|22:18900669-18923820|22:18900669-19747220|22:18900669-19770565|22:18900689-21351637|22:18900896-18923882|22:18901005-21408430|22:18905110-19015451|22:18910311-18923800|22:18910311-18923820|22:18910311-19770565|22:18912232-20287208|22:18912404-21431174|22:18912871-21431174|22:18915348-21463730|22:18916828-20311858|22:18916829-20312661|22:18916829-21041014|22:18916829-21049800|22:18916843-19004772|22:18916843-20310938|22:18916843-20311858|22:18916843-20312661|22:18916843-20716903|22:18916843-20767095|22:18916843-21011216|22:18916843-21033371|22:18916843-21075592|22:18916844-20311858|22:18916844-21033401|22:18916844-21075592|22:18918742-20311922|22:18919580-21460595|22:18919943-20311763|22:18919943-20659606|22:18919943-20708934|22:18919943-21025713|22:18919943-21440514|22:18922152-21449911|22:18938162-20229017|22:18938162-20996250|22:18938162-21455556|22:18962314-21455556|22:18973253-21435405|22:18999804-21455499|22:18999804-21455556|22:19016664-21463730|22:19023802-21440455|22:19023802-21440514|22:19035018-21461811|22:19035324-21464119|22:19036287-21208284|22:19058830-21440514|22:19156118-19529130|22:19163094-19166249|22:19163624-19770565|22:19184001-21416024|22:19336599-21208828|22:19470352-19481849|22:19647906-21153690|22:19709401-21142058|22:19709436-19712313|22:19709952-19963280|22:19710419-21142058|22:19711062-19712294|22:19711829-19711877|22:19743227-19755855|22:19743425-19747210|22:19743425-19754400|22:19743425-19770565|22:19743474-19747220|22:19747168-19754390|22:19748301-19754857|22:19748451-19748647|22:20008633-20054687|22:20027161-20063237|22:20028564-20053554|22:20028990-20062723|22:20028993-20062955|22:20029136-20062954|22:20029701-20062756|22:20030823-20041691|22:20030823-20053554|22:20030859-20052185|22:20030879-20049206|22:20030879-20052185|22:20036383-20045782|22:20036384-20045781|22:20036385-20045784|22:20039969-20043556|22:20708891-21407690|22:20718171-21427936|22:20733496-21463730|22:20745763-21460658|22:20754408-21440515|22:20754408-21457610|22:20754423-21461752|22:20778874-20792112|22:20921343-21459713|22:21061979-21213099|22:21062169-21463730|22:21062567-21463730|22:21065883-21455556|22:21067570-21414817|22:21069074-21463730|22:21074921-21440514|22:21075576-21454721|22:21081285-21457610|22:21128401-21142008|22:21213295-21245502|22:21335907-21346541|22:21336586-21353321|22:21336662-21337398|22:21336662-21351637|22:21348908-21348985,.,22:18900295-18923806|22:18910311-18923800,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,22:19470352-19481849,.,.,.,22:19711062-19712294|22:19711829-19711877,22:19711062-19712294|22:19711829-19711877,22:19748301-19754857|22:19748451-19748647,.,.,.,.,.,.,22:20008633-20054687|22:20028564-20053554|22:20030823-20041691|22:20030823-20053554|22:20030859-20052185|22:20030879-20049206|22:20030879-20052185|22:20036383-20045782|22:20036384-20045781|22:20036385-20045784|22:20039969-20043556,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,22:20778874-20792112,.,.,.,.,22:21061979-21213099|22:21128401-21142008,22:21128401-21142008,22:21213295-21245502,.,.,.,22:21336586-21353321|22:21336662-21337398|22:21336662-21351637|22:21348908-21348985,.,.,.,.,.,.,.,.,.;P_ins_source=CLN:1349334|dbVar:nssv17974796,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,CLN:1349334|dbVar:nssv17974796,.,.,.,.,.,.,.,.,.;P_ins_coord=22:21337344-21337343|22:21337344-21337456,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,22:21337344-21337343|22:21337344-21337456,.,.,.,.,.,.,.,.,.;po_P_gain_phen=22q11.2_recurrent_(DGS/VCFS)_region_(proximal,_A-D)_(includes_TBX1);po_P_gain_source=dbVar:nssv15161990|dbVar:nssv15139753|dbVar:nssv15150031|dbVar:nssv15150491|dbVar:nssv15146973|dbVar:nssv15135173|dbVar:nssv15137211|dbVar:nssv15129128|dbVar:nssv15161991|dbVar:nssv15161992|dbVar:nssv15164031|dbVar:nssv16254742|dbVar:nssv16297047|dbVar:nssv15151140|nssv16207460|dbVar:nssv15141953|dbVar:nssv15156366|nssv15772157|dbVar:nssv17976875|dbVar:nssv16207463|dbVar:nssv16296938|dbVar:nssv16207464|dbVar:nssv15774756|dbVar:nssv18329565|dbVar:nssv15149512|nssv15150794|dbVar:nssv15139758|dbVar:nssv15755803|dbVar:nssv15774287|dbVar:nssv15605979|dbVar:nssv15139756|dbVar:nssv15605980|dbVar:nssv15137771|dbVar:nssv15132295|dbVar:nssv15133039|dbVar:nssv15133301|dbVar:nssv15132518|dbVar:nssv15134365|dbVar:nssv15146613|dbVar:nssv15133111|dbVar:nssv15147269|dbVar:nssv15121201|dbVar:nssv15136264|dbVar:nssv15605803|dbVar:nssv15605804|dbVar:nssv16736606|dbVar:nssv15128891|dbVar:nssv15126571|dbVar:nssv15128500|dbVar:nssv16254735|dbVar:nssv15140068|dbVar:nssv15137505|dbVar:nssv15128758|dbVar:nssv15152138|dbVar:nssv15154014|dbVar:nssv15755815|dbVar:nssv15755817|dbVar:nssv16255668|dbVar:nssv18329661|dbVar:nssv18330205|dbVar:nssv15156359|dbVar:nssv15142823|dbVar:nssv15140066|dbVar:nssv15133432|dbVar:nssv15605805|dbVar:nssv15605808|dbVar:nssv15605806|dbVar:nssv15132858|dbVar:nssv15133520|dbVar:nssv15132127|dbVar:nssv15133128|dbVar:nssv15136566|dbVar:nssv15133389|dbVar:nssv15140044|dbVar:nssv15133925|dbVar:nssv15138146|dbVar:nssv15133393|nssv15139545|dbVar:nssv15135020|dbVar:nssv15132566|dbVar:nssv15164039|dbVar:nssv17955656|dbVar:nssv15132423|dbVar:nssv15132330|dbVar:nssv15126758|dbVa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8.08|98.05|98.94|99.08|98.81|99.34|99.24|99.43|99.69|56.67|99.81|99.82|98.25|96.18|99.87|99.80|93.79|99.84|99.84|99.91|99.94|99.96|99.96|99.98|99.98|98.42|98.42|96.35|88.17|88.42|99.94|84.78|99.94|88.20|99.94|99.94|99.94|88.38|88.21|99.94|98.40|96.31|88.29|88.06|96.31|99.97|99.94|99.94|66.78|96.11|84.09|99.96|91.60|99.79|16.39|95.23|94.50|26.11|91.39|33.45|31.88|29.84|90.26|1.24|2.81;po_P_loss_phen=22q11.2_recurrent_(DGS/VCFS)_region_(proximal,_A-D)_(includes_TBX1);po_P_loss_source=dbVar:nssv15134634|dbVar:nssv16208592|dbVar:nssv16208593|dbVar:nssv15141423|dbVar:nssv15132388|dbVar:nssv15128094|dbVar:nssv15132068|dbVar:nssv15133055|dbVar:nssv18787557|nssv18791888|dbVar:nssv16207650|dbVar:nssv15153272|dbVar:nssv15135754|dbVar:nssv15133431|nssv15139986|dbVar:nssv15125556|dbVar:nssv15126775|dbVar:nssv15133864|dbVar:nssv15755811|dbVar:nssv15755813|dbVar:nssv18326404|dbVar:nssv15126915|dbVar:nssv15128185|dbVar:nssv15145459|dbVar:nssv15145460|dbVar:nssv15138286|dbVar:nssv15154015|nssv18326430|dbVar:nssv18330227|dbVar:nssv17976889|dbVar:nssv17976891|dbVar:nssv15153273|dbVar:nssv18330460|dbVar:nssv17976888|dbVar:nssv15145461|dbVar:nssv15138328|dbVar:nssv17976880|dbVar:nssv15154017|dbVar:nssv18329577|dbVar:nssv15140316|dbVar:nssv15133433|dbVar:nssv18326382|dbVar:nssv17955872|dbVar:nssv15133434|dbVar:nssv16255835|dbVar:nssv15132708|dbVar:nssv15134184|dbVar:nssv15132128|nssv15139349|dbVar:nssv15134982|dbVar:nssv15135883|dbVar:nssv15133394|nssv16091745|dbVar:nssv15132006|nssv15139990|dbVar:nssv15137884|dbVar:nssv15133435|dbVar:nssv18792765|dbVar:nssv15135454|dbVar:nssv15133438|nssv15140028|dbVar:nssv15132230|nssv15139684|dbVar:nssv15132655|nssv15139976|dbVar:nssv15136079|dbVar:nssv15132507|nssv15139975|dbVar:nssv15132389|dbVar:nssv17976452|dbVar:nssv15164040|dbVar:nssv15137872|dbVar:nssv16254738|dbVar:nssv15127636|dbVar:nssv15128166|dbVar:nssv15127784|dbVar:nssv16208773|dbVar:nssv15145231|dbVar:nssv15145040|dbVar:nssv18786377|dbVar:nssv15145232|dbVar:nssv15139558|dbVar:nssv15163611|dbVar:nssv16215256|dbVar:nssv15128065|dbVar:nssv17955534|dbVar:nssv15163612|dbVar:nssv15145462|dbVar:nssv15145233|dbVar:nssv15163613|dbVar:nssv15132390|dbVar:nssv15163614|dbVar:nssv15162012|dbVar:nssv15139255|dbVar:nssv15162013|dbVar:nssv15162015|dbVar:nssv17976449|dbVar:nssv17955549|dbVar:nssv15162016|nssv16215222|nssv16215239|nssv16865884|dbVar:nssv15162017|dbVar:nssv15164042|dbVar:nssv15143222|dbVar:nssv15162018|dbVar:nssv16865881|dbVar:nssv15164043|dbVar:nssv15755824|dbVar:nssv17650004|dbVar:nssv17649858|dbVar:nssv16297048|dbVar:nssv17517456|dbVar:nssv15141730|dbVar:nssv15126093|dbVar:nssv15125439|dbVar:nssv15755804|dbVar:nssv15121171|dbVar:nssv15133439|dbVar:nssv15132392|dbVar:nssv15132132|dbVar:nssv15133440|dbVar:nssv15136213|dbVar:nssv15605874|nssv15605879|dbVar:nssv17976881|dbVar:nssv15119655|dbVar:nssv18842051|dbVar:nssv17173212|dbVar:nssv17173202|dbVar:nssv18792648|dbVar:nssv16091922|dbVar:nssv15143862|dbVar:nssv17976675|dbVar:nssv18830700|dbVar:nssv18786378|dbVar:nssv18786379|dbVar:nssv15140698|dbVar:nssv15139562|dbVar:nssv15140747|dbVar:nssv15140051|dbVar:nssv15133317|nssv15143213|dbVar:nssv15131926|dbVar:nssv15605919|dbVar:nssv15755810|HI3:ISCA-37446|dbVar:nssv15139269|dbVar:nssv15137499|dbVar:nssv15138712|dbVar:nssv18330193|dbVar:nssv15139855|nssv18326386|dbVar:nssv15139854|nssv15153270|dbVar:nssv15154016|nssv17976890|dbVar:nssv15152149|dbVar:nssv15137491|dbVar:nssv18330326|dbVar:nssv18329598|dbVar:nssv18330218|dbVar:nssv15141653|dbVar:nssv15142207|dbVar:nssv15755814|dbVar:nssv15132248|nssv15139690|dbVar:nssv15134351|dbVar:nssv15132463|nssv15139699|dbVar:nssv15132523|dbVar:nssv15155695|dbVar:nssv18831006|dbVar:nssv17976279|dbVar:nssv15139289|dbVar:nssv15139467|dbVar:nssv15142401|dbVar:nssv15134356|dbVar:nssv18330006|dbVar:nssv15137446|dbVar:nssv17976741|dbVar:nssv15153268|dbVar:nssv15156357|dbVar:nssv18842023|dbVar:nssv15132608|dbVar:nssv15145465|dbVar:nssv15145466|dbVar:nssv15145235|dbVar:nssv15772502|dbVar:nssv15154008|dbVar:nssv15156354|dbVar:nssv15755308|nssv15755309|dbVar:nssv15155696|dbVar:nssv18330327|dbVar:nssv18326378|dbVar:nssv18329593|dbVar:nssv18330275|dbVar:nssv18329587|dbVar:nssv18329620|dbVar:nssv17956682|dbVar:nssv15776637|dbVar:nssv17649919|dbVar:nssv18326434|dbVar:nssv18326440|dbVar:nssv15120712|dbVar:nssv15139564|dbVar:nssv16208598|dbVar:nssv15755307|dbVar:nssv15156347|dbVar:nssv18330257|dbVar:nssv15755311|dbVar:nssv17957425|dbVar:nssv15121593|dbVar:nssv15154007|dbVar:nssv15134856|dbVar:nssv18330729|dbVar:nssv18330196|dbVar:nssv17977102;po_P_loss_coord=22:16087695-19363465|22:16888900-20125005|22:16888900-20730144|22:16888901-20026751|22:17019016-20718227|22:17177912-19892632|22:17397499-20311763|22:17397499-20708934|22:17565983-20052185|22:18475386-23764120|22:18626109-21800797|22:18628020-21464119|22:18628020-21505417|22:18628133-21561468|22:18628133-21883879|22:18628148-21440515|22:18631365-21800471|22:18636750-21800471|22:18639781-21910280|22:18641480-21712996|22:18641480-21722262|22:18642647-21717111|22:18642647-21742277|22:18644242-21465662|22:18644543-21465659|22:18644544-21800797|22:18644791-21798907|22:18644791-21800471|22:18644791-21915509|22:18644792-21041014|22:18645354-21800797|22:18646694-21631412|22:18648857-21465662|22:18648867-21798907|22:18648867-21800797|22:18648868-21465659|22:18650665-21440455|22:18650676-21455556|22:18655799-21726191|22:18660136-21737597|22:18660554-21455556|22:18661700-21457610|22:18661700-21505445|22:18661725-20659606|22:18661725-21440514|22:18661725-21461811|22:18661725-21464119|22:18661725-21505417|22:18661725-21561514|22:18661725-21809009|22:18671630-21536841|22:18689517-21588615|22:18706002-20311763|22:18706002-20659606|22:18706002-21025713|22:18706002-21440514|22:18706002-21464119|22:18706002-21505417|22:18706002-21809009|22:18718029-21326012|22:18728119-21811991|22:18765086-21661435|22:18765103-21661435|22:18788000-21065894|22:18788000-21468378|22:18788000-21684798|22:18789966-21591197|22:18790223-21697998|22:18820423-21477877|22:18834446-21414817|22:18834453-21575702|22:18844633-21463730|22:18844633-21608479|22:18844633-21797812|22:18848021-21468378|22:18861210-21630630|22:18861749-21463730|22:18868433-20331055|22:18868433-21477877|22:18872509-21465050|22:18874457-20306317|22:18875870-21470273|22:18875957-21466715|22:18876631-21465659|22:18878410-21465050|22:18878410-21907671|22:18884515-21484289|22:18884715-21483289|22:18886916-21463730|22:18886916-21465050|22:18886916-21467387|22:18886916-21811991|22:18889491-20312668|22:18889491-21463730|22:18889491-21466715|22:18889491-21917190|22:18889572-21464697|22:18889694-21465485|22:18889951-21466053|22:18889970-21462658|22:18890043-21440455|22:18890163-21464056|22:18890222-21561468|22:18890265-21540347|22:18890272-18999862|22:18890272-20328113|22:18890272-20659606|22:18890272-21394730|22:18890272-21461811|22:18891527-21796215|22:18892576-21460220|22:18893345-21650280|22:18893736-18924066|22:18893839-20307561|22:18893883-21563420|22:18893883-21571027|22:18893887-21386103|22:18893888-18923800|22:18893889-18973671|22:18893889-21414817|22:18893889-21481925|22:18893889-21570386|22:18894079-21414817|22:18894340-20255110|22:18894340-20255154|22:18894340-21440455|22:18894340-21440514|22:18894836-21505417|22:18894836-21561514|22:18900756-21800277|22:18912232-21465672|22:18912232-21465672|22:18916828-21465662|22:18916829-21465659|22:18916829-21465662|22:18916829-21800797|22:18916843-21465659|22:18916843-21465662|22:18916843-21798907|22:18916843-21804716|22:18916843-21804886|22:18916844-21465659|22:18916844-21800471|22:18916844-21915509|22:18917048-21465659|22:18917048-21465662|22:18919478-21800471|22:18919943-21505417|22:18919943-21505558|22:18919943-21561514|22:18919943-21809009|22:18935464-21465659|22:18936190-21464809|22:18936191-21464809|22:18970562-21465662|22:19024657-21465659|22:19024658-21465662|22:19029603-21505417|22:19046678-21465662|22:20279767-23822986|22:20310411-21804886|22:20311904-21465659|22:20311904-21800797|22:20609933-21576553|22:20659548-21561514|22:20703817-21503296|22:20703817-21631412|22:20713276-21477877|22:20716877-21465659|22:20716877-21465662|22:20716877-21798907|22:20716877-21800471|22:20716877-23819697|22:20716878-21465659|22:20725309-21465659|22:20725310-21804563|22:20725319-21800797|22:20728958-21798907|22:20728958-21800797|22:20728958-21915096|22:20729389-21465662|22:20730997-21465342|22:20732809-21465659|22:20732809-21800471|22:20733428-21505417|22:20749626-23972878|22:21029656-22481498|22:21033587-21800471|22:21049800-21465662|22:21049801-21465662|22:21059670-21800471|22:21059670-21804716|22:21065883-21937680|22:21075676-21465662|22:21081261-24593820|22:21092649-21465662|22:21188488-21804597|22:21462567-22962196;po_P_loss_percent=14.31|38.01|47.78|36.07|49.29|36.76|48.62|54.78|46.55|48.58|80.93|90.59|89.29|87.59|78.92|90.52|81.07|81.21|78.56|83.65|83.40|83.57|82.89|91.06|91.07|81.40|81.46|81.42|78.55|89.57|81.42|86.08|91.21|81.56|81.51|91.21|91.25|91.30|83.68|83.49|91.62|91.66|90.35|88.33|91.61|91.67|91.68|90.35|88.60|81.63|89.67|88.62|88.24|90.33|91.86|93.09|93.15|91.78|82.80|93.22|83.31|88.71|88.71|95.31|95.86|88.69|91.72|88.36|96.68|97.66|93.73|98.08|92.96|87.00|98.05|92.77|98.73|98.19|98.46|99.10|98.58|99.03|99.17|99.24|99.33|84.82|98.83|98.87|99.69|99.66|99.57|87.84|99.62|99.79|99.69|84.86|99.77|99.75|99.74|99.81|99.81|99.82|96.18|96.95|95.84|99.68|99.74|99.82|99.82|88.45|99.91|93.19|96.37|99.93|96.24|95.97|99.96|96.83|98.81|99.96|99.28|95.99|99.97|99.96|99.96|99.98|99.98|98.42|96.35|88.41|99.94|99.94|99.94|99.94|99.94|88.33|99.94|99.94|88.38|88.21|88.20|99.94|88.34|84.95|99.94|99.94|88.33|98.40|98.40|96.31|88.06|99.94|99.97|99.97|99.94|99.94|99.94|98.33|99.94|33.43|77.20|99.87|77.39|88.37|89.20|95.10|81.96|98.20|99.79|99.79|69.06|68.96|24.08|99.79|99.79|68.46|68.70|68.71|68.59|61.98|99.79|99.83|99.79|68.50|94.65|22.17|29.92|56.14|99.63|99.63|54.60|54.29|45.68|99.60|10.90|99.59|44.74|0.10;P_snvindel_nb=382,.,9,.,.,.,.,.,.,.,.,.,9,.,.,.,.,.,7,1,.,.,9,9,21,.,.,.,1,.,.,16,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,3,.,.,.,.,8,.,10,.,.,.,287,.,.,.,.,.,.,.,.,.;P_snvindel_phen=2-hydroxyglutaric_aciduria|Abnormality_of_metabolism/homeostasis|Acute_rhabdomyolysis|Autism_spectrum_disorder|Bardet-Biedl_syndrome|Bernard_Soulier_syndrome|CEDNIK_syndrome|CLDN5-related_neurodevelopmental_disorder|Cardiac_arrhythmia|Cardiovascular_phenotype|D,L-2-hydroxyglutaric_aciduria|DiGeorge_syndrome|Episodic_flaccid_weakness|Fetal_cystic_hygroma|Hereditary_cancer-predisposing_syndrome|Hypomyelinating_leukodystrophy_2|Inborn_genetic_diseases|Intellectual_disability|LZTR1-related_condition|LZTR1-related_disorders|Macrothrombocytopenia|Meier-Gorlin_syndrome_7|Metabolic_crises_with_rhabdomyolysis,_cardiac_arrhythmias,_and_neurodegeneration|Mild_macrothrombocytopenia|Myasthenic_syndrome,_congenital,_23,_presynaptic|Noonan_syndrome|Noonan_syndrome_10|Noonan_syndrome_2|Noonan_syndrome_and_Noonan-related_syndrome|PI4KA-Related_Disorders|Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis|Proline_dehydrogenase_deficiency|RASopathy|Recurrent_metabolic_encephalomyopathic_crises-rhabdomyolysis-cardiac_arrhythmia-intellectual_disability_syndrome|SLC25A1-related_condition|Schwannomatosis|Schwannomatosis_2|See_cases|Seizure|Short_stature|Spastic_paraplegia_84,_autosomal_recessive|Thrombocytopenia|Van_den_Ende-Gupta_syndrome|Velocardiofacial_syndrome,.,Inborn_genetic_diseases|Proline_dehydrogenase_deficiency,.,.,.,.,.,.,.,.,.,2-hydroxyglutaric_aciduria|D,L-2-hydroxyglutaric_aciduria|Inborn_genetic_diseases|Myasthenic_syndrome,_congenital,_23,_presynaptic|SLC25A1-related_condition,.,.,.,.,.,Meier-Gorlin_syndrome_7,CLDN5-related_neurodevelopmental_disorder,.,.,Bernard_Soulier_syndrome|Macrothrombocytopenia|Mild_macrothrombocytopenia|Thrombocytopenia,Bernard_Soulier_syndrome|Macrothrombocytopenia|Mild_macrothrombocytopenia|Thrombocytopenia,DiGeorge_syndrome|Inborn_genetic_diseases|Velocardiofacial_syndrome,.,.,.,Bardet-Biedl_syndrome,.,.,Abnormality_of_metabolism/homeostasis|Acute_rhabdomyolysis|Cardiac_arrhythmia|Episodic_flaccid_weakness|Inborn_genetic_diseases|Intellectual_disability|Metabolic_crises_with_rhabdomyolysis,_cardiac_arrhythmias,_and_neurodegeneration|Recurrent_metabolic_encephalomyopathic_crises-rhabdomyolysis-cardiac_arrhythmia-intellectual_disability_syndrome|Seizure,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Van_den_Ende-Gupta_syndrome,.,.,.,.,PI4KA-Related_Disorders|Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis|Spastic_paraplegia_84,_autosomal_recessive,.,CEDNIK_syndrome|Hypomyelinating_leukodystrophy_2,.,.,.,Autism_spectrum_disorder|Cardiovascular_phenotype|Fetal_cystic_hygroma|Hereditary_cancer-predisposing_syndrome|Inborn_genetic_diseases|LZTR1-related_condition|LZTR1-related_disorders|Noonan_syndrome|Noonan_syndrome_10|Noonan_syndrome_2|Noonan_syndrome_and_Noonan-related_syndrome|RASopathy|Schwannomatosis|Schwannomatosis_2|See_cases|Short_stature,.,.,.,.,.,.,.,.,.;B_gain_source=.,DDD:56146|DDD:56173|DDD:56174|dbVar|dgv543n27|dgv99e203|gnomAD-SV_v2.1_DUP_22_50647,DDD:56146|DDD:56173|DDD:56174|dbVar|dgv543n27|dgv99e203|gnomAD-SV_v2.1_DUP_22_50647,1000g|DDD:56146|DDD:56173|DDD:56174|dbVar|dgv543n27|dgv99e203|esv3647250|gnomAD-SV_v2.1_DUP_22_50652,dgv543n27,dbVar|dgv543n27,.,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,.,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,.,.,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,.,.,.,.,.,.,.,DDD:56225|DDD:56226|dbVar,DDD:56225|DDD:56226|DDD:56232|DDD:56234|dbVar,DDD:56226|DDD:56232|DDD:56234|dbVar,DDD:56226|DDD:56232|dbVar,DDD:56226|dbVar,DDD:56226|dbVar,DDD:56226|dbVar,DDD:56226|DDD:56255|dbVar,dbVar,dbVar,.,.,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar|esv2760719,dbVar|esv2760719,dbVar|esv2760719,dbVar|esv2760719;B_gain_coord=.,22:18655861-19006984|22:18667571-18994853|22:18876429-19006125|22:18877788-19033532|22:18882313-19012377|chr22:18884850-18926400|22:18884850-18926400,22:18655861-19006984|22:18667571-18994853|22:18876429-19006125|22:18877788-19033532|22:18882313-19012377|chr22:18884850-18926400|22:18884850-18926400,22:18655861-19006984|22:18667571-18994853|22:18876429-19006125|22:18877788-19033532|22:18882313-19012377|chr22:18912157-18998999|22:18912158-18998999|22:18912158-18998999|chr22:18924000-18940000|22:18924000-18940000,22:18877788-19033532,22:18877788-19033532|chr22:18998500-19027500|chr22:19015177-19088691,.,chr22:19015177-19088691|chr22:19030334-19103057|chr22:19031999-19054000,chr22:19072999-19342000,chr22:19072999-19342000|chr22:19096500-19120500,chr22:19072999-19342000,chr22:19072999-19342000,chr22:19072999-19342000,chr22:19072999-19342000,.,chr22:19344390-19544397,chr22:19344390-19544397,chr22:19344390-19544397,chr22:19344390-19544397,chr22:19344390-19544397,chr22:19531786-19559055|chr22:19531786-19666087,.,.,chr22:19707371-19866503|chr22:19710000-19716000,chr22:19707371-19866503,chr22:19707371-19866503,chr22:19707371-19866503|chr22:19821999-20108150,chr22:19821999-20108150,chr22:19821999-20108150,chr22:19821999-20108150,chr22:19821999-20108150,chr22:19821999-20108150|chr22:19973106-20124645,chr22:19821999-20108150|chr22:19973106-20124645|chr22:20015350-20023000,chr22:19821999-20108150|chr22:19973106-20124645,chr22:19821999-20108150|chr22:19973106-20124645,chr22:19821999-20108150|chr22:19973106-20124645,chr22:19821999-20108150|chr22:19973106-20124645,chr22:19821999-20108150|chr22:19973106-20124645,chr22:19973106-20124645,chr22:19973106-20124645|chr22:20109000-20115000|chr22:20112900-20120550,.,.,.,.,.,.,.,chr22:20310677-20370753|chr22:20310677-20503817|22:20313251-20369884|22:20322450-20718598,chr22:20310677-20370753|chr22:20310677-20503817|22:20313251-20369884|22:20322450-20718598|22:20330330-20450295|22:20343574-20380608,chr22:20310677-20503817|22:20322450-20718598|22:20330330-20450295|22:20343574-20380608|chr22:20370753-20489646|chr22:20370753-20503717,chr22:20310677-20503817|22:20322450-20718598|22:20330330-20450295|chr22:20370753-20489646|chr22:20370753-20503717,chr22:20310677-20503817|22:20322450-20718598|chr22:20370753-20489646|chr22:20370753-20503717,chr22:20310677-20503817|22:20322450-20718598|chr22:20370753-20489646|chr22:20370753-20503717|chr22:20465500-20509200,22:20322450-20718598|chr22:20610555-20718305,22:20322450-20718598|chr22:20610555-20718305|22:20659548-20717455,chr22:20722999-20763000|chr22:20746552-20846353|chr22:20747116-20782223,chr22:20746552-20846353|chr22:20763251-20802665,.,.,chr22:20989999-21481000|chr22:21036802-21046081|chr22:21036802-21053355|chr22:21037000-21051000,chr22:20989999-21481000|chr22:21051000-21059000,chr22:20989999-21481000,chr22:20989999-21481000|chr22:21078735-21159481,chr22:20989999-21481000,chr22:20989999-21481000|chr22:21256865-21435776,chr22:20989999-21481000|chr22:21256865-21435776,chr22:20989999-21481000|chr22:21256865-21435776,chr22:20989999-21481000|chr22:21256865-21435776,chr22:20989999-21481000|chr22:21256865-21435776,chr22:20989999-21481000|chr22:21256865-21435776,chr22:20989999-21481000|chr22:21256865-21435776,chr22:20989999-21481000|chr22:21256865-21435776,chr22:20989999-21481000|chr22:21256865-21435776|chr22:21372999-21431350,chr22:20989999-21481000|chr22:21256865-21435776|chr22:21372999-21431350|22:21383283-21845355|chr22:21384000-21389000,chr22:20989999-21481000|chr22:21256865-21435776|chr22:21372999-21431350|22:21383283-21845355,chr22:20989999-21481000|chr22:21256865-21435776|chr22:21372999-21431350|22:21383283-21845355,chr22:20989999-21481000|22:21383283-21845355|chr22:21453999-21469000|chr22:21455959-21464881;B_gain_AFmax=.,0.0355,0.0355,0.0355,0.01,0.01,.,0.01,0.01,0.01,0.01,0.01,0.01,0.01,.,0.01,0.01,0.01,0.01,0.01,0.01,.,.,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,.,.,.,.,.,.,.,0.0509,0.0509,0.0509,0.0509,0.0509,0.0509,0.0509,0.0509,0.01,0.01,.,.,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01;B_loss_source=.,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,DDD:56225|DDD:56226|dbVar,DDD:56225|DDD:56226|DDD:56232|DDD:56234|dbVar,DDD:56226|DDD:56232|DDD:56234|dbVar,DDD:56226|DDD:56232|dbVar,DDD:56226|HI40:ISCA-46728|dbVar|dgv817e199,DDD:56226|HI40:ISCA-46728|dbVar|dgv817e199,DDD:56226|dbVar,DDD:56226|DDD:56255|dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar;B_loss_coord=.,chr22:18884924-19013000|chr22:18884925-18927000,chr22:18884924-19013000|chr22:18884925-18927000,chr22:18884924-19013000|chr22:18912157-18998999,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000|chr22:19161075-19192940,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000|chr22:19528613-19558447|chr22:19531786-19559055,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000|22:20313251-20369884|22:20322450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164-22613666|22:19014638-21718005|22:21042853-21483407,22:17036164-22613666|22:19014638-21718005|22:21042853-21483407,22:17036164-22613666|22:19014638-21718005|22:21042853-21483407,22:17036164-22613666|22:19014638-21718005|22:21042853-21483407,22:17036164-22613666|22:19014638-21718005|22:21042853-21483407,22:17036164-22613666|22:19014638-21718005|22:21042853-21483407,22:17036164-22613666|22:19014638-21718005|22:21042853-21483407,22:17036164-22613666|22:19014638-21718005|22:21042853-21483407,22:17036164-22613666|22:19014638-21718005|22:21042853-21483407,22:17036164-22613666|22:19014638-21718005|22:21042853-21483407;B_inv_AFmax=0.1686,0.1686,0.1686,0.1686,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686;po_B_gain_someG_source=22:18667571-18994853_DDD:56146|22:18877788-19033532_dgv543n27|chr22:18884850-18926400_dbVar|chr22:18897380-18897885_dbVar|chr22:18905003-18905655_dbVar|chr22:18908214-18916245_dbVar|22:18912158-18998999_1000g|chr22:18915430-18916245_dbVar|chr22:18920000-18927000_dbVar|chr22:18924000-18940000_dbVar|chr22:18928500-18933600_dbVar|chr22:18936140-18938323_dbVar|chr22:18958405-18962239_dbVar|chr22:18976999-19012000_dbVar|chr22:18986988-18991101_dbVar|chr22:18995665-18996607_dbVar|chr22:19006777-19007455_dbVar|chr22:19015177-19088691_dbVar|chr22:19030334-19103057_dbVar|chr22:19050376-19063398_dbVar...;po_B_gain_someG_coord=22:18655861-19006984_dgv99e203|22:18876429-19006125_DDD:56173|22:18882313-19012377_DDD:56174|22:18884850-18926400_gnomAD-SV_v2.1_DUP_22_50647|chr22:18897885-18898551_dbVar|chr22:18908116-18908214_dbVar|chr22:18912157-18998999_dbVar|22:18912158-18998999_esv3647250|chr22:18917245-18921869_dbVar|chr22:18922181-18922289_dbVar|22:18924000-18940000_gnomAD-SV_v2.1_DUP_22_50652|chr22:18932850-18939000_dbVar|chr22:18946999-18963000_dbVar|chr22:18959589-18974015_dbVar|chr22:18979229-18981697_dbVar|chr22:18991101-19003643_dbVar|chr22:18998500-19027500_dbVar|chr22:19006877-19007455_dbVar|chr22:19023959-19024069_dbVar|chr22:19031999-19054000_dbVar...;po_B_loss_someG_source=chr22:18884925-18927000_dbVar|chr22:18912157-18998999_dbVar|chr22:18920358-18923595_dbVar|chr22:18934402-18934486_dbVar|chr22:18938445-18969406_dbVar|chr22:18961454-18962214_dbVar|chr22:18977575-18977640_dbVar|chr22:18977576-18977640_dbVar|chr22:18979860-18979920_dbVar|chr22:18984228-18985696_dbVar|chr22:18994879-18998062_dbVar|chr22:18997267-19009786_dbVar|chr22:19008418-19009937_dbVar|chr22:19041070-19041296_dbVar|chr22:19050181-19050386_dbVar|chr22:19063483-19063613_dbVar|22:19063767-19063900_gnomAD-SV_v2.1_DEL_22_181349|chr22:19087245-19091323_dbVar|chr22:19091546-19099675_dbVar|chr22:19099906-19100607_dbVar...;po_B_loss_someG_coord=chr22:18884924-19013000_dbVar|chr22:18902898-18902992_dbVar|chr22:18912910-18913458_dbVar|chr22:18929400-18935100_dbVar|chr22:18934999-21466000_dbVar|chr22:18943458-18943555_dbVar|chr22:18961457-18962214_dbVar|22:18977576-18977640_1000g|22:18977576-18977640_gnomAD-SV_v2.1_DEL_22_181334|chr22:18980769-18984165_dbVar|chr22:18990004-18990064_dbVar|chr22:18997195-19009720_dbVar|chr22:19006733-19006786_dbVar|chr22:19008684-19010259_dbVar|chr22:19050028-19050086_dbVar|chr22:19054635-19055096_dbVar|chr22:19063767-19063900_dbVar|chr22:19085539-19085825_dbVar|chr22:19091504-19102801_dbVar|22:19098616-19100995_dgv1286e212...;Cosmic_ID=325921|868289|16521|344527|344990|336054|337864|1189150|2526221|921730|347979|681737|674280|676645|64889|73372|74042|14568|552226|393066|393067|606697|1010990|1011193|1011198|1011201|1011203|988609|1919439|2386524|1215466|3038163|334661|1009921|347980|540341|366288|357345|101360|153623|1311717|1782887|2534354|2206583|844141|1573312|666970|81317|557557|612401|227094|...,.,64889|73372|74042|14568|540341|81317|227094,.,.,.,768143|122920|768144|768145|742665|205629|742666|768146|724948|2058016|2381098,.,.,.,.,.,.,724952|22726|768149|546696,724953|521179|520035,.,.,724954|724955|724956|768151,768153|724957,.,.,.,.,.,.,724966|344529|950816|951023|951040|951043,.,979497|98439|98826|98831|485936|367919|1066921|778842|1068069|1064219|724968|724969,1059497|1060872|1060985|1067989|1061244|1070187|1070348|1074180|1064577|1067754|1069000|1071230|1071315|1065708|1070037|1070098|1074085|1070821|290501|257442,.,871048|393084|393085|35010|35386|44709|498907|263488|847960|20575,545395|290503|301777|286870|290504,.,768159,.,.,.,.,724972,.,768162,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,342985|1011827|329413|334666,724981|568169|724982|724983|724984|724985|724986|724987,.,.,.,513199|263494|724990|724991|768172|768173|1061246|1068660|1060873|1070188|1065051|1068661|1073865|1068662|1069644|1066059|724992|724993|367925|2069010|724994|724995|75440,724992|724993,.,687520|325941,.,.,687522,.,.,.,724998,.,.,.,725000,.;Cosmic_mut_typ=loss|gain,.,loss,.,.,.,gain|loss,.,.,.,.,.,.,loss,loss,.,.,gain|loss,loss,.,.,.,.,.,.,loss|gain,.,gain|loss,loss|gain,.,gain|loss,loss|gain,.,loss,.,.,.,.,loss,.,loss,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,gain|loss,gain|loss,.,.,.,loss|gain,loss,.,gain,.,.,gain,.,.,.,loss,.,.,.,loss,.;GC_content_left=0.445;GC_content_right=0.32;Repeat_coord_left=22:18894850-18894969;Repeat_type_left=L1ME2z;Repeat_coord_right=22:21464126-21464591;Repeat_type_right=L1MA7;SegDup_left=22:18889511-18912230;HI=1,.,30,.,.,.,.,.,.,.,.,.,30,.,0,.,.,.,.,.,.,.,.,30,2,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,30,.,.,.,.,.,.,30,1,.,.,.,.,.,.,.,.,.,.,.,.;TS=.,.,0,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.;DDD_HI_percent=97.89,61.1,45.38,.,.,.,39.12,.,.,33.13,65.74,.,46.07,72.86,19.48,54.99,70.45,.,8.4,50.93,.,.,.,78.01,4.92,48.57,.,72.21,40.8,.,54.56,51.91,.,5.07,.,.,68.23,.,8.76,.,37.82,.,.,.,35.77,.,79.33,97.89,94.16,.,.,90.21,.,.,.,86.28,70.17,41.2,24.41,.,.,35.17,68.88,61.36,4.35,.,38.59,32.82,50.87,.,.,76.26,74.02,.,.,.,.;ExAC_delZ=-0.807902299547855,.,.,.,.,.,.,.,.,-2.62354415217069,.,.,-2.62354415217069,-2.62354415217069,-2.51547904504873,-2.62354415217069,-2.53806827104914,.,-2.57292784443109,.,.,.,.,.,-2.62354415217069,-2.62354415217069,.,-2.62354415217069,-2.62354415217069,.,-2.62354415217069,-2.62354415217069,.,-2.46581011772843,.,.,-2.62354415217069,.,-2.62354415217069,.,-2.62354415217069,.,.,.,.,.,.,.,.,.,.,.,.,.,.,-1.30437956536809,-1.42333559636086,-1.60479766897668,.,.,.,.,-1.06265755233802,-1.39880243235913,-0.928255048107525,.,-1.14442881641699,-1.25119505668143,-1.44618961523547,.,.,-1.8606303493434,-0.807902299547855,.,.,.,.;ExAC_dupZ=-1.20830830104818,.,.,.,.,.,.,.,.,-2.53125239294469,.,.,-2.53125239294469,-2.53125239294469,-2.53125239294469,-2.53125239294469,-2.53125239294469,.,-2.53125239294469,.,.,.,.,.,-2.53125239294469,-2.53125239294469,.,-2.53125239294469,-2.53125239294469,.,-2.53125239294469,-2.53125239294469,.,-2.53125239294469,.,.,-2.53125239294469,.,-2.53125239294469,.,-2.53125239294469,.,.,.,.,.,.,.,.,.,.,.,.,.,.,-1.89912490049618,-1.93669033911618,-1.94085802577819,.,.,.,.,-1.49456297636655,-1.53414994058354,-1.20830830104818,.,-1.26664892202732,-1.28020537251329,-1.52989215323949,.,.,-1.51336493990188,-1.26588610868392,.,.,.,.;ExAC_cnvZ=-0.791505674827999,.,.,.,.,.,.,.,.,-2.47162789907313,.,.,-2.47162789907313,-2.47162789907313,-2.47162789907313,-2.47162789907313,-2.47162789907313,.,-2.47162789907313,.,.,.,.,.,-2.47162789907313,-2.47162789907313,.,-2.47162789907313,-2.47162789907313,.,-2.47162789907313,-2.47162789907313,.,-2.47162789907313,.,.,-2.47162789907313,.,-2.47162789907313,.,-2.47162789907313,.,.,.,.,.,.,.,.,.,.,.,.,.,.,-1.51976012533128,-1.61173791689534,-1.599983320827,.,.,.,.,-1.03231231326932,-1.19910660480315,-0.791505674827999,.,-0.922844550293754,-0.946080819110286,-1.19895133869269,.,.,-1.2805127161158,-1.04316708587741,.,.,.,.;ExAC_synZ=2.94244265911253,-0.678746019468492,0.360135634788785,.,.,.,-0.375038933750903,.,.,-0.184731887964386,1.18735715980007,.,0.459211010381399,-0.597972033048653,-0.543665561522748,0.0822917398873284,0.128056348383697,.,0.554183575869215,2.94244265911253,.,.,.,-0.002241469611443,2.36782594176173,-0.373621593221624,.,0.348188483468328,0.465852147917107,.,0.425870777992255,1.46130508236304,.,0.690563071344625,.,.,-1.98609532754524,.,-1.04492215962902,.,-0.408428770523539,.,.,.,-0.800223805913347,.,0.698499439551705,.,.,.,.,.,.,.,.,2.28676628831896,.,-0.0046056816669864,0.672972182845271,.,.,1.20573288011437,-0.289055396385536,1.58078637399342,0.477351976371369,.,0.687283106386744,0.246895000414255,-1.50983365445593,.,.,-0.990180484365383,-0.387275128092876,.,.,.,.;ExAC_misZ=5.29477062168781,-0.22775445384527,0.772811927860626,.,.,.,0.817637812863819,.,.,1.02819617031079,0.932740471460801,.,1.99698466418685,-1.19469008098196,3.98018572942351,-0.450618700229176,0.836381939603491,.,1.2901097836858,3.34022892264706,.,.,.,0.855158778511627,3.38001100960461,0.590344002361273,.,0.327140414338646,0.557839148920189,.,-0.701931719398633,0.279301120222081,.,4.03153091509844,.,.,-0.363927890852326,.,2.06932219421127,.,2.39258092860216,.,.,.,1.18081437151802,.,0.174075190759776,.,.,.,.,.,.,.,.,2.39892044394279,.,2.85964800561254,2.65389095774821,.,.,5.29477062168781,-0.349034099945665,-0.841707455415557,3.00980268645085,.,1.33036583543754,0.909128978651125,1.16392737773964,.,.,-0.63060581685217,-1.12481109733158,.,.,.,.;GenCC_disease=.,.,hyperprolinemia_type_1,.,.,.,schizophrenia,.,.,.,.,.,D,L-2-hydroxyglutaric_aciduria|mitochondrial_disease|myasthenic_syndrome,_congenital,_23,_presynaptic|presynaptic_congenital_myasthenic_syndrome,congenital_insensitivity_to_pain_with_severe_intellectual_disability|multiple_congenital_anomalies/dysmorphic_syndrome,.,.,.,.,Meier-Gorlin_syndrome|Meier-Gorlin_syndrome_7,.,.,.,.,Bernard-Soulier_syndrome|autosomal_dominant_macrothrombocytopenia,22q11.2_deletion_syndrome|DiGeorge_syndrome|conotruncal_heart_malformations|velocardiofacial_syndrome,.,.,dilated_cardiomyopathy|familial_glucocorticoid_deficiency|familial_isolated_dilated_cardiomyopathy|glucocorticoid_deficiency_5,paroxysmal_dyskinesia,.,.,metabolic_encephalomyopathic_crises,_recurrent,_with_rhabdomyolysis,_cardiac_arrhythmias,_and_neurodegeneration|recurrent_metabolic_encephalomyopathic_crises-rhabdomyolysis-cardiac_arrhythmia-intellectual_disability_syndrome,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,van_den_Ende-Gupta_syndrome,.,.,.,.,polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis,heparin_cofactor_2_deficiency,CEDNIK_syndrome,congenital_heart_disease,.,.,Noonan_syndrome|Noonan_syndrome_10|Noonan_syndrome_2|schwannomatosis_2,.,.,.,.,.,.,.,.,.;GenCC_moi=.,.,AR,.,.,.,AD,.,.,.,.,.,AD|AR,AD|AR,.,.,.,.,AD|AR,.,.,.,.,AD|AR,AD,.,.,AD|AR,AD,.,.,AR,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,AR,.,.,.,.,AR,AD,AR,.,.,.,AD|AR,.,.,.,.,.,.,.,.,.;GenCC_classification=.,.,Definitive|Strong|Supportive,.,.,.,Limited,.,.,.,.,.,Definitive|Limited|Strong|Supportive,Limited|Supportive,.,.,.,.,Definitive|Strong|Supportive,.,.,.,.,Definitive|Strong|Supportive,Definitive|Strong|Supportive,.,.,Limited|Supportive,Moderate,.,.,Moderate|Strong,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Definitive|Limited|Moderate|Strong|Supportive,.,.,.,.,Definitive|Moderate|Strong,Definitive|Limited|Strong,Strong|Supportive,No_Known_Disease_Relationship,.,.,Definitive|Moderate|Strong|Supportive,.,.,.,.,.,.,.,.,.;GenCC_pmid=.,.,10192398|12217952|12525555|15662599|19736351|20524212|20524212[PMID]_23462603[PMID]|23462603|26978485|28202261|28851938|5031477,.,.,.,.,.,.,.,.,.,23561848|23561848[PMID]_23393310[PMID]|26273529|26870663|29238895|31527857|31808147|NULL,26068709[PMID],.,.,.,.,11416137|121376|149250|27374770|27374770[PMID]|282832|30986546,.,.,.,.,10887115|12447957|15213102|18825380|19484238|22886561[PMID]|23995613|28064200[PMID],11239417|11242049|11242110|11748311|14585638|14585638[PMID]|18636631|192430|20054531|20937753|24637876|24998776|25860641|29500247,.,.,21247928[PMID]|24601690[PMID]|30237576|32476818,.,.,.,26805781|26805782,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,20887961|20887961[PMID]_22140376[PMID]|21108395|22140376|23808541|24478002|3808541,.,.,.,.,25855803|29738522|30614210|34415310|34415322,15337701|2647747|277130|8562924,15968592|15968592[PMID]_21073448[PMID]|21073448|23231787|25473036|26747696,.,.,.,15955931|16534111|23401320|24362817|25335493|25480913|25795793|25795793[PMID]|26446362|274799|278971|287232|29469822|30368668|303983|30442762|30442766|30481304|30664951|30859559|31533111|31825158,.,.,.,.,.,.,.,.,.;NCBI_gene_ID=.,8214,5625,.,26220,117134596,9993,25786,8220,23617,2928,100652736,6576,8218,7290,64976,128977,7353,8318,7122,150185,5413,.,2812,6899,54584,79680,10587,1312,100616414,421,128989,406961,54487,100500860,100302197,27037,102465490,5902,109617010,29801,388849,284865,150197,65078,100302118,85359,653203,728226,728229,728233,85376,117134597,729461,101927859,7625,91179,84861,51586,266697,84222,5297,3053,9342,1399,101928891,150209,8216,80764,439931,113691,9127,6545,693234,440799,400891,400892;OMIM_ID=606810|190315|603465|138720|602054|606448|116790|616830|605566|613619|600286|142360|604202|600574,.,606810,.,.,.,.,.,.,.,.,.,190315,.,.,.,.,.,603465,.,.,.,.,138720,602054,.,.,606448,116790,.,.,616830,.,.,.,.,.,.,.,.,.,.,.,.,605566,.,.,.,.,.,.,.,.,.,.,.,613619,.,.,.,.,600286,142360,604202,.,.,.,600574,.,.,.,.,.,.,.,.,.;OMIM_phenotype=.,.,Hyperprolinemia,_type_I,_239500_(3)_AR|(Schizophrenia,_susceptibility_to,_4),_600850_(3)_AD,.,.,.,.,.,.,.,.,.,Combined_D-2-_and_L-2-hydroxyglutaric_aciduria,_615182_(3)_AR|Myasthenic_syndrome,_congenital,_23,_presynaptic,_618197_(3)_AR,.,.,.,.,.,Meier-Gorlin_syndrome_7,_617063_(3)_AR,.,.,.,.,Bernard-Soulier_syndrome,_type_B,_231200_(3)_AR|Giant_platelet_disorder,_isolated,_231200_(3)_AR,Conotruncal_anomaly_face_syndrome,_217095_(3)|DiGeorge_syndrome,_188400_(3)_AD|Tetralogy_of_Fallot,_187500_(3)_AD|Velocardiofacial_syndrome,_192430_(3)_AD,.,.,?Glucocorticoid_deficiency_5,_617825_(3)_AR,(Panic_disorder,_susceptibility_to),_167870_(3)_?AD|(Schizophrenia,_susceptibility_to),_181500_(3)_AD,.,.,Metabolic_encephalomyopathic_crises,_recurrent,_with_rhabdomyolysis,_cardiac_arrhythmias,_and_neurodegeneration,_616878_(3)_AR,.,.,.,.,.,.,.,.,.,.,.,.,(Schizophrenia,_susceptibility_to),_181500_(3)_AD,.,.,.,.,.,.,.,.,.,.,.,Van_den_Ende-Gupta_syndrome,_600920_(3)_AR,.,.,.,.,Gastrointestinal_defects_and_immunodeficiency_syndrome_2,_619708_(3)_AR|Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis,_616531_(3)_AR|Spastic_paraplegia_84,_AR,_619621_(3)_AR,Thrombophilia_10_due_to_heparin_cofactor_II_deficiency,_612356_(3)_AD,Cerebral_dysgenesis,_neuropathy,_ichthyosis,_and_palmoplantar_keratoderma_syndrome,_609528_(3)_AR,.,.,.,Noonan_syndrome_10,_616564_(3)_AD|Noonan_syndrome_2,_605275_(3)_AR|(Schwannomatosis-2,_susceptibility_to),_615670_(3)_AD,.,.,.,.,.,.,.,.,.;OMIM_inheritance=.,.,AD|AR,.,.,.,.,.,.,.,.,.,AR,.,.,.,.,.,AR,.,.,.,.,AR,AD,.,.,AR,?AD|AD,.,.,AR,.,.,.,.,.,.,.,.,.,.,.,.,AD,.,.,.,.,.,.,.,.,.,.,.,AR,.,.,.,.,AR,AD,AR,.,.,.,AD|AR,.,.,.,.,.,.,.,.,.;OMIM_morbid=yes,.,yes,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,yes,yes,.,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,yes,yes,yes,.,.,.,yes,.,.,.,.,.,.,.,.,.;OMIM_morbid_candidate=yes,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.;LOEUF_bin=0,9,6,.,.,.,4,.,.,6,9,.,3,5,0,4,9,.,3,1,.,.,.,7,2,5,.,5,8,.,4,4,.,0,.,.,5,.,2,.,1,.,.,.,1,.,7,7,.,.,.,7,.,.,.,4,0,2,0,.,.,2,8,4,3,.,5,9,4,.,.,6,6,.,.,.,.;GnomAD_pLI=1,9.8176e-12,5.3577e-12,.,.,.,5.1573e-06,.,.,0.003861,0.0044347,.,0.058829,2.5101e-37,1,0.052924,1.9976e-05,.,4.6237e-05,0.89512,.,.,.,0.51249,0.83661,4.7419e-05,.,3.4688e-11,1.1377e-06,.,5.0422e-11,0.00014769,.,0.99973,.,.,1.0841e-08,.,0.82235,.,0.85288,.,.,.,0.95882,.,5.0636e-05,0.48065,.,.,.,9.0005e-09,.,.,.,1.5586e-06,0.9998,0.42419,0.99974,.,.,3.1234e-12,2.5137e-10,0.013567,0.44604,.,1.9474e-14,1.0210999999999999e-92,0.013291,.,.,4.468e-09,2.8317e-07,.,.,.,.;ExAC_pLI=1,7.621e-07,4.7536e-06,.,.,.,0.0010959,.,.,0.0041565,0.037186,.,0.63354,1.2408e-26,1,0.020082,3.69e-07,.,0.069104,0.74052,.,.,.,0.10112,0.9834,0.0012635,.,1.0692e-08,0.00084666,.,8.2184e-07,4.2224e-06,.,0.9999,.,.,1.3059e-05,.,0.33622,.,0.98899,.,.,.,0.52644,.,0.12857,.,.,.,.,.,.,.,.,0.00035588,.,0.70261,0.96081,.,.,0.00080407,2.7955e-05,0.15166,0.16345,.,1.9583e-10,3.3832e-52,0.029328,.,.,1.8785e-07,0.00010047,.,.,.,.;AnnotSV_ranking_score=1.9;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2A_(cf_P_loss_source,_+1.00)|3C_(76_genes,_+0.90)|5F_(+0.00);ACMG_class=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5;END=21464119;SVLEN=-2569283 GT 1/. +22 18894836 . C . PASS AnnotSV_ID=22_18894836_21464119_DEL_1;SV_start=18894836;Biologist_annotation=Di_George_syndrom;Biologist_ranking=Pathogenic;Annotation_mode=full,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split,split;CytoBand=q11.21;Gene_name=DGCR6|PRODH|LOC122455341|DGCR5|FAM246C|DGCR2|DGCR11|ESS2|TSSK2|GSC2|LINC01311|SLC25A1|CLTCL1|HIRA|MRPL40|C22orf39|UFD1|CDC45|CLDN5|LINC00895|SEPTIN5|SEPT5-GP1BB|GP1BB|TBX1|GNB1L|RTL10|TXNRD2|COMT|MIR4761|ARVCF|TANGO2|MIR185|DGCR8|MIR3618|MIR1306|TRMT2A|MIR6816|RANBP1|SNORA77B|ZDHHC8|CCDC188|LINC02891|LINC00896|RTN4R|MIR1286|DGCR6L|FAM230A|GGTLC3|TMEM191B|PI4KAP1|RIMBP3|FAM246B|FAM230J|FAM230G|ZNF74|SCARF2|KLHL22|MED15|POM121L4P|TMEM191A|PI4KA|SERPIND1|SNAP29|CRKL|LINC01637|AIFM3|LZTR1|THAP7|THAP7-AS1|TUBA3FP|P2RX6|SLC7A4|MIR649|P2RX6P|LRRC74B|BCRP2,DGCR6,PRODH,LOC122455341,DGCR5,FAM246C,DGCR2,DGCR11,ESS2,TSSK2,GSC2,LINC01311,SLC25A1,CLTCL1,HIRA,MRPL40,C22orf39,UFD1,CDC45,CLDN5,LINC00895,SEPTIN5,SEPT5-GP1BB,GP1BB,TBX1,GNB1L,RTL10,TXNRD2,COMT,MIR4761,ARVCF,TANGO2,MIR185,DGCR8,MIR3618,MIR1306,TRMT2A,MIR6816,RANBP1,SNORA77B,ZDHHC8,CCDC188,LINC02891,LINC00896,RTN4R,MIR1286,DGCR6L,FAM230A,GGTLC3,TMEM191B,PI4KAP1,RIMBP3,FAM246B,FAM230J,FAM230G,ZNF74,SCARF2,KLHL22,MED15,POM121L4P,TMEM191A,PI4KA,SERPIND1,SNAP29,CRKL,LINC01637,AIFM3,LZTR1,THAP7,THAP7-AS1,TUBA3FP,P2RX6,SLC7A4,MIR649,P2RX6P,LRRC74B,BCRP2;Closest_left=FAM230F;Closest_right=LOC102724728;Gene_count=76;Tx=.,NM_005675,NM_016335,NR_173081,NR_110533,NM_001396027,NM_005137,NR_024157,NM_022719,NM_053006,NM_005315,NR_103767,NM_001256534,NM_007098,NM_003325,NM_003776,NM_173793,NM_005659,NM_001178010,NM_001130861,NR_024381,NM_002688,NR_037611,NM_000407,NM_001379200,NM_053004,NM_024627,NM_006440,NM_000754,NR_039918,NM_001670,NM_001322141,NR_029706,NM_022720,NR_037412,NR_031706,NM_001331039,NR_106874,NM_001278639,NR_145765,NM_001185024,NM_001365892,NR_038460,NR_026919,NM_023004,NR_031618,NM_033257,NR_165629,NM_001355479,NM_001242313,NR_003563,NM_015672,NM_001396026,NR_136569,NR_165637,NM_001256524,NM_153334,NM_032775,NM_001003891,NR_024592,NR_026815,NM_058004,NM_000185,NM_004782,NM_005207,NR_110537,NM_144704,NM_006767,NM_030573,NR_027051,NR_003608,NM_001394691,NM_004173,NR_030379,NR_002829,NM_001291006,NR_037566;Tx_version=.,6,6,1,2,1,3,1,3,5,2,1,2,4,4,4,5,7,2,1,1,6,1,5,1,3,6,5,4,1,3,2,1,7,1,1,2,1,2,1,2,2,2,1,6,1,4,1,1,1,1,2,1,2,1,2,7,4,3,1,1,4,4,4,4,1,3,4,3,1,1,1,3,1,1,2,1;Tx_start=.,18893832,18900293,18926981,18957980,19017036,19023798,19033674,19117791,19118820,19134505,19159218,19163093,19166985,19318220,19420067,19428408,19437433,19467348,19510546,19553652,19702025,19704742,19711061,19748300,19770745,19833668,19863044,19929294,19951275,19957418,20008632,20020661,20067763,20073268,20073580,20099397,20102208,20103626,20113924,20119326,20135938,20186251,20193854,20228937,20236656,20301760,20326419,20366210,20377668,20383730,20455681,20483850,20632119,20689194,20748440,20778873,20795805,20861896,21043842,21055401,21061978,21128400,21213294,21271694,21311379,21319459,21336585,21353392,21356210,21362491,21369453,21383006,21388464,21396680,21400234,21457304;Tx_end=.,18899601,18923806,18935206,19018755,19017734,19109925,19035888,19132164,19120135,19137805,19160345,19166018,19279242,19419256,19423598,19435234,19466716,19508135,19512860,19554362,19710842,19712297,19712294,19754857,19842397,19842397,19929341,19957498,19951357,20004346,20054687,20020743,20099395,20073356,20073665,20104749,20102274,20114878,20114049,20135530,20138578,20192441,20196060,20255841,20236734,20307583,20350461,20368028,20380440,20398695,20461786,20484549,20656858,20706786,20762745,20792112,20850082,20941906,21046009,21058891,21213099,21142008,21245502,21308035,21318968,21335647,21353321,21356407,21364663,21368576,21382297,21386850,21388561,21398538,21418457,21476575;Overlapped_tx_length=.,4766,23513,8225,60775,698,86127,2214,14373,1315,3300,1127,2925,112257,101036,3531,6826,29283,40787,2314,710,8817,7555,1233,6557,71652,8729,66297,28204,82,46928,46055,82,31632,88,85,5352,66,11252,125,16204,2640,6190,2206,26904,78,5823,24042,1818,2772,14965,6105,699,24739,17592,14305,13239,54277,80010,2167,3490,151121,13608,32208,36341,7589,16188,16736,3015,8453,6085,12844,3844,97,1858,18223,6815;Overlapped_CDS_length=.,392,1803,0,0,696,1653,0,1431,1077,618,0,957,4923,3054,621,318,924,1797,912,0,1110,0,621,1515,984,1095,1575,816,0,2889,1110,0,2322,0,0,1932,0,837,0,2337,1209,0,0,1422,0,663,0,678,1041,0,4920,699,0,0,1935,2607,1905,2367,0,0,6309,1500,777,912,0,1818,2523,930,0,0,1422,1908,0,0,1179,0;Overlapped_CDS_percent=.,59,100,0,0,100,100,0,100,88,100,0,100,100,100,100,100,100,100,52,0,100,0,100,100,100,82,100,100,0,100,100,0,100,0,0,100,0,100,0,100,100,0,0,100,0,100,0,100,100,0,91,100,0,0,100,100,100,100,0,0,100,100,100,100,0,100,100,100,0,0,100,100,0,0,100,0;Frameshift=.,yes,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no,no;Exon_count=.,5,14,2,6,3,10,1,10,1,3,1,8,33,25,4,3,12,20,1,1,12,12,2,7,8,3,18,6,1,20,9,1,14,1,1,12,1,6,1,11,9,4,1,2,1,5,12,6,9,15,1,1,9,7,6,14,7,18,1,8,55,5,5,3,2,21,21,4,2,3,12,5,1,2,10,6;Location=.,intron2-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-intron1;Location2=.,CDS-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR,5'UTR-3'UTR,UTR;Dist_nearest_SS=.,597,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,6098;Nearest_SS_type=.,5',.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,3';Intersect_start=.,18894835,18900293,18926981,18957980,19017036,19023798,19033674,19117791,19118820,19134505,19159218,19163093,19166985,19318220,19420067,19428408,19437433,19467348,19510546,19553652,19702025,19704742,19711061,19748300,19770745,19833668,19863044,19929294,19951275,19957418,20008632,20020661,20067763,20073268,20073580,20099397,20102208,20103626,20113924,20119326,20135938,20186251,20193854,20228937,20236656,20301760,20326419,20366210,20377668,20383730,20455681,20483850,20632119,20689194,20748440,20778873,20795805,20861896,21043842,21055401,21061978,21128400,21213294,21271694,21311379,21319459,21336585,21353392,21356210,21362491,21369453,21383006,21388464,21396680,21400234,21457304;Intersect_end=.,18899601,18923806,18935206,19018755,19017734,19109925,19035888,19132164,19120135,19137805,19160345,19166018,19279242,19419256,19423598,19435234,19466716,19508135,19512860,19554362,19710842,19712297,19712294,19754857,19842397,19842397,19929341,19957498,19951357,20004346,20054687,20020743,20099395,20073356,20073665,20104749,20102274,20114878,20114049,20135530,20138578,20192441,20196060,20255841,20236734,20307583,20350461,20368028,20380440,20398695,20461786,20484549,20656858,20706786,20762745,20792112,20850082,20941906,21046009,21058891,21213099,21142008,21245502,21308035,21318968,21335647,21353321,21356407,21364663,21368576,21382297,21386850,21388561,21398538,21418457,21464119;RE_gene=ABL1_(morbid/RE=mTL_miRNA)|ACTN4_(morbid/RE=mTL_miRNA)|ACVR2B_(morbid/RE=mTL_miRNA)|ADA2_(morbid/RE=ABC_enhancer)|ADAR_(morbid/RE=mTL_miRNA)|ADH5_(morbid/RE=mTL_miRNA)|AFF2_(HI=3/morbid/RE=mTL_miRNA)|AGO1_(morbid/RE=mTL_miRNA)|AGO2_(morbid/RE=mTL_miRNA)|AHI1_(morbid/RE=mTL_miRNA)|AKT1_(morbid/RE=mTL_miRNA)|ALG1_(morbid/RE=mTL_miRNA)|AMH_(morbid/RE=mTL_miRNA)|APCDD1_(morbid/RE=mTL_miRNA)|AR_(HI=3/morbid/RE=mTL_miRNA)|ARID1A_(HI=3/morbid/RE=mTL_miRNA)|ASH1L_(HI=3/morbid/RE=mTL_miRNA)|ATM_(HI=3/morbid/RE=mTL_miRNA)|ATP6AP1_(morbid/RE=mTL_miRNA)|ATP6V0A2_(morbid/RE=mTL_miRNA)|ATP6V1E1_(morbid/RE=ABC_enhancer)|ATR_(morbid/RE=mTL_miRNA)|B4GALT1_(morbid/RE=mTL_miRNA)|BACH1_(morbid/RE=mTL_miRNA)|BAP1_(HI=3/morbid/RE=mTL_miRNA)|BBS5_(morbid/RE=mTL_miRNA)|BCL10_(morbid/RE=mTL_miRNA)|BMPR1A_(HI=3/morbid/RE=mTL_miRNA)|BNC2_(morbid/RE=mTL_miRNA)|BRD4_(morbid/RE=mTL_miRNA)|C3_(morbid/RE=mTL_miRNA)|CACNA1C_(morbid/RE=mTL_miRNA)|CAD_(morbid/RE=mTL_miRNA)|CALM3_(morbid/RE=mTL_miRNA)|CAPN15_(morbid/RE=mTL_miRNA)|CASP14_(morbid/RE=mTL_miRNA)|CBL_(morbid/RE=mTL_miRNA)|CCDC134_(morbid/RE=mTL_miRNA)|CCND2_(morbid/RE=mTL_miRNA)|CCNQ_(morbid/RE=mTL_miRNA)|CDC42_(morbid/RE=mTL_miRNA)|CEP104_(morbid/RE=mTL_miRNA)|CERS1_(morbid/RE=mTL_miRNA)|CHRDL1_(HI=3/morbid/RE=mTL_miRNA)|CLCC1_(morbid/RE=mTL_miRNA)|CLCN7_(morbid/RE=mTL_miRNA)|CLDN16_(morbid/RE=mTL_miRNA)|CLPB_(morbid/RE=mTL_miRNA)|CNBP_(morbid/RE=mTL_miRNA)|CNNM4_(morbid/RE=mTL_miRNA)...;P_gain_phen=22q11.2_recurrent_(DGS/VCFS)_region_(proximal,_A-B)_(includes_TBX1);P_gain_source=TS3:ISCA-37433|dbVar:nssv15121202|dbVar:nssv15132168|dbVar:nssv15132429|dbVar:nssv15132430|dbVar:nssv15132553|dbVar:nssv15132642|nssv15139997|dbVar:nssv15132749|dbVar:nssv15133139|dbVar:nssv15133442|dbVar:nssv15133527|dbVar:nssv15133528|dbVar:nssv15133531|dbVar:nssv15133921|dbVar:nssv15134211|dbVar:nssv15134239|dbVar:nssv15134353|dbVar:nssv15136015|dbVar:nssv15137439|dbVar:nssv15138177|dbVar:nssv15138869|dbVar:nssv15140282|dbVar:nssv15141369|dbVar:nssv15153269|dbVar:nssv15156361|dbVar:nssv15605811|dbVar:nssv15605831|dbVar:nssv15605876|dbVar:nssv15755816|dbVar:nssv16207465|dbVar:nssv16736612|dbVar:nssv16736616|dbVar:nssv18830899|dbVar:nssv18830992;P_gain_coord=22:18894836-20311784|22:18894836-21461752|22:18894836-21464119|22:18896973-21440514|22:18900756-21075586|22:18908833-21358123|22:18909039-21440514|22:18909045-21464119|22:18912232-20287208|22:18912515-21431174|22:18916828-21050078|22:18916829-20312661|22:18916843-20311810|22:18916843-20311858|22:18916843-20312661|22:18919943-20311763|22:18919943-20659606|22:18919943-20708934|22:18919943-21440514|22:18923899-21431174|22:18937381-21459713|22:18938162-21455556|22:18950767-21455556|22:18970562-21040836|22:18973253-21435405|22:19168759-20942862|22:20895156-21374512|22:20958985-21379958|22:21044197-21440455|22:21045039-21455556|22:21065883-21440455|22:21081261-21440455|22:21086707-21445960|22:21300291-21331188;P_loss_phen=22q11.2_recurrent_(DGS/VCFS)_region_(proximal,_A-B)_(includes_TBX1)|Bernard-Soulier_syndrome,_type_B,_231200_(3)_AR|Giant_platelet_disorder,_isolated,_231200_(3)_AR|Cerebral_dysgenesis,_neuropathy,_ichthyosis,_and_palmoplantar_keratoderma_syndrome,_609528_(3)_AR|Combined_D-2-_and_L-2-hydroxyglutaric_aciduria,_615182_(3)_AR|Myasthenic_syndrome,_congenital,_23,_presynaptic,_618197_(3)_AR|Conotruncal_anomaly_face_syndrome,_217095_(3)|DiGeorge_syndrome,_188400_(3)_AD|Tetralogy_of_Fallot,_187500_(3)_AD|Velocardiofacial_syndrome,_192430_(3)_AD|Gastrointestinal_defects_and_immunodeficiency_syndrome_2,_619708_(3)_AR|Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis,_616531_(3)_AR|Spastic_paraplegia_84,_AR,_619621_(3)_AR|Hyperprolinemia,_type_I,_239500_(3)_AR|Schizophrenia,_susceptibility_to,_4,_600850_(3)_AD|Metabolic_encephalomyopathic_crises,_recurrent,_with_rhabdomyolysis,_cardiac_arrhythmias,_and_neurodegeneration,_616878_(3)_AR|Noonan_syndrome_10,_616564_(3)_AD|Noonan_syndrome_2,_605275_(3)_AR|Schwannomatosis-2,_susceptibility_to,_615670_(3)_AD|Recurrent_metabolic_encephalomyopathic_crises-rhabdomyolysis-cardiac_arrhythmia-intellectual_disability_syndrome|Cardiac_arrhythmia|Seizure|Acute_rhabdomyolysis|Episodic_flaccid_weakness|Intellectual_disability|Thrombophilia_10_due_to_heparin_cofactor_II_deficiency,_612356_(3)_AD|Van_den_Ende-Gupta_syndrome,_600920_(3)_AR||DiGeorge_syndrome,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Bernard-Soulier_syndrome,_type_B,_231200_(3)_AR|Giant_platelet_disorder,_isolated,_231200_(3)_AR,Bernard-Soulier_syndrome,_type_B,_231200_(3)_AR|Giant_platelet_disorder,_isolated,_231200_(3)_AR,Conotruncal_anomaly_face_syndrome,_217095_(3)|DiGeorge_syndrome,_188400_(3)_AD|Tetralogy_of_Fallot,_187500_(3)_AD|Velocardiofacial_syndrome,_192430_(3)_AD||DiGeorge_syndrome,.,.,.,.,.,.,Metabolic_encephalomyopathic_crises,_recurrent,_with_rhabdomyolysis,_cardiac_arrhythmias,_and_neurodegeneration,_616878_(3)_AR|Recurrent_metabolic_encephalomyopathic_crises-rhabdomyolysis-cardiac_arrhythmia-intellectual_disability_syndrome|Cardiac_arrhythmia|Seizure|Acute_rhabdomyolysis|Episodic_flaccid_weakness|Intellectual_disability,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Van_den_Ende-Gupta_syndrome,_600920_(3)_AR,.,.,.,.,Gastrointestinal_defects_and_immunodeficiency_syndrome_2,_619708_(3)_AR|Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis,_616531_(3)_AR|Spastic_paraplegia_84,_AR,_619621_(3)_AR|Thrombophilia_10_due_to_heparin_cofactor_II_deficiency,_612356_(3)_AD,Thrombophilia_10_due_to_heparin_cofactor_II_deficiency,_612356_(3)_AD,Cerebral_dysgenesis,_neuropathy,_ichthyosis,_and_palmoplantar_keratoderma_syndrome,_609528_(3)_AR,.,.,.,Noonan_syndrome_10,_616564_(3)_AD|Noonan_syndrome_2,_605275_(3)_AR|Schwannomatosis-2,_susceptibility_to,_615670_(3)_AD,.,.,.,.,.,.,.,.,.;P_loss_hpo=HP:0000730|HP:0001249|HP:0001250|HP:0001267|HP:0001275|HP:0001286|HP:0001303|HP:0001656|HP:0001661|HP:0001665|HP:0001666|HP:0001687|HP:0001721|HP:0002122|HP:0002125|HP:0002182|HP:0002192|HP:0002279|HP:0002306|HP:0002316|HP:0002348|HP:0002382|HP:0002386|HP:0002391|HP:0002402|HP:0002417|HP:0002430|HP:0002431|HP:0002432|HP:0002434|HP:0002437|HP:0002458|HP:0002466|HP:0002479|HP:0002482|HP:0002499|HP:0002543|HP:0002794|HP:0003752|HP:0003767|HP:0004351|HP:0005158|HP:0006833|HP:0006997|HP:0007154|HP:0007176|HP:0007180|HP:0008942|HP:0010520|HP:0011675,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,HP:0000730|HP:0001249|HP:0001250|HP:0001267|HP:0001275|HP:0001286|HP:0001303|HP:0001656|HP:0001661|HP:0001665|HP:0001666|HP:0001687|HP:0001721|HP:0002122|HP:0002125|HP:0002182|HP:0002192|HP:0002279|HP:0002306|HP:0002316|HP:0002348|HP:0002382|HP:0002386|HP:0002391|HP:0002402|HP:0002417|HP:0002430|HP:0002431|HP:0002432|HP:0002434|HP:0002437|HP:0002458|HP:0002466|HP:0002479|HP:0002482|HP:0002499|HP:0002543|HP:0002794|HP:0003752|HP:0003767|HP:0004351|HP:0005158|HP:0006833|HP:0006997|HP:0007154|HP:0007176|HP:0007180|HP:0008942|HP:0010520|HP:0011675,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;P_loss_source=CLN:226591|CLN:2871255|CLN:959024|HI3:ISCA-37433|dbVar:nssv15119864|dbVar:nssv15120710|dbVar:nssv15124351|dbVar:nssv15124515|dbVar:nssv15129189|dbVar:nssv15130834|dbVar:nssv15130929|dbVar:nssv15131088|dbVar:nssv15131611|dbVar:nssv15132323|nssv15139981|dbVar:nssv15132334|dbVar:nssv15132747|dbVar:nssv15132748|dbVar:nssv15132933|dbVar:nssv15132934|dbVar:nssv15132935|dbVar:nssv15132939|dbVar:nssv15133099|dbVar:nssv15133185|dbVar:nssv15133186|dbVar:nssv15133443|dbVar:nssv15133817|dbVar:nssv15134350|nssv15139984|dbVar:nssv15134354|dbVar:nssv15134360|dbVar:nssv15134361|dbVar:nssv15134635|dbVar:nssv15134703|dbVar:nssv15134820|dbVar:nssv15134849|dbVar:nssv15136233|dbVar:nssv15137726|dbVar:nssv15137759|dbVar:nssv15137802|dbVar:nssv15138106|dbVar:nssv15138475|dbVar:nssv15139405|dbVar:nssv15139434|dbVar:nssv15139445|nssv15774763|dbVar:nssv15139759|dbVar:nssv15140043|dbVar:nssv15140048|dbVar:nssv15140057|dbVar:nssv15141198|dbVar:nssv15141722|dbVar:nssv15142496|dbVar:nssv15143197|dbVar:nssv15143645|dbVar:nssv15144279|dbVar:nssv15144449|dbVar:nssv15153165|dbVar:nssv15154011|dbVar:nssv15155693|dbVar:nssv15156360|dbVar:nssv15162020|dbVar:nssv15162021|dbVar:nssv15605807|dbVar:nssv15605829|dbVar:nssv15605830|nssv16216546|dbVar:nssv15605834|dbVar:nssv15755310|dbVar:nssv15755712|dbVar:nssv15755812|dbVar:nssv15770037|dbVar:nssv15770783|dbVar:nssv15770877|dbVar:nssv15772938|nssv15773614|nssv15775115|nssv15775184|nssv15775592|dbVar:nssv15772982|dbVar:nssv15775129|dbVar:nssv15776509|dbVar:nssv15776863|dbVar:nssv15776865|dbVar:nssv15776871|dbVar:nssv16208595|dbVar:nssv16208596|dbVar:nssv16212111|dbVar:nssv16213307|dbVar:nssv16213808|dbVar:nssv16214784|dbVar:nssv16215255|dbVar:nssv16215257|dbVar:nssv16216543|dbVar:nssv16216544|nssv8639845|nssv15161831|dbVar:nssv16254574|dbVar:nssv16254739|dbVar:nssv16255831|dbVar:nssv16736634|dbVar:nssv17171460|nssv17974163|dbVar:nssv17171461|dbVar:nssv17171462|dbVar:nssv17171559|dbVar:nssv17171582|dbVar:nssv17171772|dbVar:nssv17649936|dbVar:nssv17649973|dbVar:nssv17955605|dbVar:nssv17955606|dbVar:nssv17955868|dbVar:nssv17970829|dbVar:nssv17971092|dbVar:nssv17971094|dbVar:nssv17971356|dbVar:nssv17971399|dbVar:nssv17977042|dbVar:nssv18329601|dbVar:nssv18329824|dbVar:nssv18330264|dbVar:nssv18330322|dbVar:nssv18330820|dbVar:nssv18786380|dbVar:nssv18790095|dbVar:nssv18792883|dbVar:nssv18841927|nssv18830898|dbVar:nssv8639589|nssv15122532|morbid:GP1BB|morbid:LZTR1|morbid:PI4KA|morbid:PRODH|morbid:SCARF2|morbid:SERPIND1|morbid:SLC25A1|morbid:SNAP29|morbid:TANGO2|morbid:TBX1,.,dbVar:nssv17649973|dbVar:nssv17971399,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,dbVar:nssv15124515,.,.,.,dbVar:nssv17977042|morbid:GP1BB,dbVar:nssv17977042|morbid:GP1BB,CLN:959024|morbid:TBX1,.,.,.,.,.,.,CLN:226591|dbVar:nssv15770877|dbVar:nssv15772938|nssv15773614|nssv15775115|nssv15775184|nssv15775592|dbVar:nssv15772982|dbVar:nssv15775129|dbVar:nssv16216543|dbVar:nssv17171772|dbVar:nssv17971094|dbVar:nssv18790095|dbVar:nssv8639589|nssv15122532|morbid:TANGO2,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,morbid:SCARF2,.,.,.,.,morbid:PI4KA|morbid:SERPIND1,morbid:SERPIND1,morbid:SNAP29,.,.,.,CLN:2871255|dbVar:nssv17171582|dbVar:nssv17971092|morbid:LZTR1,.,.,.,.,.,.,.,.,.;P_loss_coord=22:18894836-20238206|22:18894836-20311763|22:18894836-20659606|22:18894836-21440514|22:18894836-21461752|22:18894836-21461811|22:18894836-21464119|22:18896973-20311763|22:18896973-21382953|22:18896973-21440514|22:18899288-18925066|22:18900294-18924066|22:18900295-18923806|22:18900443-21440514|22:18900669-18923820|22:18900669-19747220|22:18900669-19770565|22:18900689-21351637|22:18900896-18923882|22:18901005-21408430|22:18905110-19015451|22:18910311-18923800|22:18910311-18923820|22:18910311-19770565|22:18912232-20287208|22:18912404-21431174|22:18912871-21431174|22:18915348-21463730|22:18916828-20311858|22:18916829-20312661|22:18916829-21041014|22:18916829-21049800|22:18916843-19004772|22:18916843-20310938|22:18916843-20311858|22:18916843-20312661|22:18916843-20716903|22:18916843-20767095|22:18916843-21011216|22:18916843-21033371|22:18916843-21075592|22:18916844-20311858|22:18916844-21033401|22:18916844-21075592|22:18918742-20311922|22:18919580-21460595|22:18919943-20311763|22:18919943-20659606|22:18919943-20708934|22:18919943-21025713|22:18919943-21440514|22:18922152-21449911|22:18938162-20229017|22:18938162-20996250|22:18938162-21455556|22:18962314-21455556|22:18973253-21435405|22:18999804-21455499|22:18999804-21455556|22:19016664-21463730|22:19023802-21440455|22:19023802-21440514|22:19035018-21461811|22:19035324-21464119|22:19036287-21208284|22:19058830-21440514|22:19156118-19529130|22:19163094-19166249|22:19163624-19770565|22:19184001-21416024|22:19336599-21208828|22:19470352-19481849|22:19647906-21153690|22:19709401-21142058|22:19709436-19712313|22:19709952-19963280|22:19710419-21142058|22:19711062-19712294|22:19711829-19711877|22:19743227-19755855|22:19743425-19747210|22:19743425-19754400|22:19743425-19770565|22:19743474-19747220|22:19747168-19754390|22:19748301-19754857|22:19748451-19748647|22:20008633-20054687|22:20027161-20063237|22:20028564-20053554|22:20028990-20062723|22:20028993-20062955|22:20029136-20062954|22:20029701-20062756|22:20030823-20041691|22:20030823-20053554|22:20030859-20052185|22:20030879-20049206|22:20030879-20052185|22:20036383-20045782|22:20036384-20045781|22:20036385-20045784|22:20039969-20043556|22:20708891-21407690|22:20718171-21427936|22:20733496-21463730|22:20745763-21460658|22:20754408-21440515|22:20754408-21457610|22:20754423-21461752|22:20778874-20792112|22:20921343-21459713|22:21061979-21213099|22:21062169-21463730|22:21062567-21463730|22:21065883-21455556|22:21067570-21414817|22:21069074-21463730|22:21074921-21440514|22:21075576-21454721|22:21081285-21457610|22:21128401-21142008|22:21213295-21245502|22:21335907-21346541|22:21336586-21353321|22:21336662-21337398|22:21336662-21351637|22:21348908-21348985,.,22:18900295-18923806|22:18910311-18923800,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,22:19470352-19481849,.,.,.,22:19711062-19712294|22:19711829-19711877,22:19711062-19712294|22:19711829-19711877,22:19748301-19754857|22:19748451-19748647,.,.,.,.,.,.,22:20008633-20054687|22:20028564-20053554|22:20030823-20041691|22:20030823-20053554|22:20030859-20052185|22:20030879-20049206|22:20030879-20052185|22:20036383-20045782|22:20036384-20045781|22:20036385-20045784|22:20039969-20043556,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,22:20778874-20792112,.,.,.,.,22:21061979-21213099|22:21128401-21142008,22:21128401-21142008,22:21213295-21245502,.,.,.,22:21336586-21353321|22:21336662-21337398|22:21336662-21351637|22:21348908-21348985,.,.,.,.,.,.,.,.,.;P_ins_source=CLN:1349334|dbVar:nssv17974796,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,CLN:1349334|dbVar:nssv17974796,.,.,.,.,.,.,.,.,.;P_ins_coord=22:21337344-21337343|22:21337344-21337456,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,22:21337344-21337343|22:21337344-21337456,.,.,.,.,.,.,.,.,.;po_P_gain_phen=22q11.2_recurrent_(DGS/VCFS)_region_(proximal,_A-D)_(includes_TBX1);po_P_gain_source=dbVar:nssv15161990|dbVar:nssv15139753|dbVar:nssv15150031|dbVar:nssv15150491|dbVar:nssv15146973|dbVar:nssv15135173|dbVar:nssv15137211|dbVar:nssv15129128|dbVar:nssv15161991|dbVar:nssv15161992|dbVar:nssv15164031|dbVar:nssv16254742|dbVar:nssv16297047|dbVar:nssv15151140|nssv16207460|dbVar:nssv15141953|dbVar:nssv15156366|nssv15772157|dbVar:nssv17976875|dbVar:nssv16207463|dbVar:nssv16296938|dbVar:nssv16207464|dbVar:nssv15774756|dbVar:nssv18329565|dbVar:nssv15149512|nssv15150794|dbVar:nssv15139758|dbVar:nssv15755803|dbVar:nssv15774287|dbVar:nssv15605979|dbVar:nssv15139756|dbVar:nssv15605980|dbVar:nssv15137771|dbVar:nssv15132295|dbVar:nssv15133039|dbVar:nssv15133301|dbVar:nssv15132518|dbVar:nssv15134365|dbVar:nssv15146613|dbVar:nssv15133111|dbVar:nssv15147269|dbVar:nssv15121201|dbVar:nssv15136264|dbVar:nssv15605803|dbVar:nssv15605804|dbVar:nssv16736606|dbVar:nssv15128891|dbVar:nssv15126571|dbVar:nssv15128500|dbVar:nssv16254735|dbVar:nssv15140068|dbVar:nssv15137505|dbVar:nssv15128758|dbVar:nssv15152138|dbVar:nssv15154014|dbVar:nssv15755815|dbVar:nssv15755817|dbVar:nssv16255668|dbVar:nssv18329661|dbVar:nssv18330205|dbVar:nssv15156359|dbVar:nssv15142823|dbVar:nssv15140066|dbVar:nssv15133432|dbVar:nssv15605805|dbVar:nssv15605808|dbVar:nssv15605806|dbVar:nssv15132858|dbVar:nssv15133520|dbVar:nssv15132127|dbVar:nssv15133128|dbVar:nssv15136566|dbVar:nssv15133389|dbVar:nssv15140044|dbVar:nssv15133925|dbVar:nssv15138146|dbVar:nssv15133393|nssv15139545|dbVar:nssv15135020|dbVar:nssv15132566|dbVar:nssv15164039|dbVar:nssv17955656|dbVar:nssv15132423|dbVar:nssv15132330|dbVar:nssv15126758|dbVa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8.08|98.05|98.94|99.08|98.81|99.34|99.24|99.43|99.69|56.67|99.81|99.82|98.25|96.18|99.87|99.80|93.79|99.84|99.84|99.91|99.94|99.96|99.96|99.98|99.98|98.42|98.42|96.35|88.17|88.42|99.94|84.78|99.94|88.20|99.94|99.94|99.94|88.38|88.21|99.94|98.40|96.31|88.29|88.06|96.31|99.97|99.94|99.94|66.78|96.11|84.09|99.96|91.60|99.79|16.39|95.23|94.50|26.11|91.39|33.45|31.88|29.84|90.26|1.24|2.81;po_P_loss_phen=22q11.2_recurrent_(DGS/VCFS)_region_(proximal,_A-D)_(includes_TBX1);po_P_loss_source=dbVar:nssv15134634|dbVar:nssv16208592|dbVar:nssv16208593|dbVar:nssv15141423|dbVar:nssv15132388|dbVar:nssv15128094|dbVar:nssv15132068|dbVar:nssv15133055|dbVar:nssv18787557|nssv18791888|dbVar:nssv16207650|dbVar:nssv15153272|dbVar:nssv15135754|dbVar:nssv15133431|nssv15139986|dbVar:nssv15125556|dbVar:nssv15126775|dbVar:nssv15133864|dbVar:nssv15755811|dbVar:nssv15755813|dbVar:nssv18326404|dbVar:nssv15126915|dbVar:nssv15128185|dbVar:nssv15145459|dbVar:nssv15145460|dbVar:nssv15138286|dbVar:nssv15154015|nssv18326430|dbVar:nssv18330227|dbVar:nssv17976889|dbVar:nssv17976891|dbVar:nssv15153273|dbVar:nssv18330460|dbVar:nssv17976888|dbVar:nssv15145461|dbVar:nssv15138328|dbVar:nssv17976880|dbVar:nssv15154017|dbVar:nssv18329577|dbVar:nssv15140316|dbVar:nssv15133433|dbVar:nssv18326382|dbVar:nssv17955872|dbVar:nssv15133434|dbVar:nssv16255835|dbVar:nssv15132708|dbVar:nssv15134184|dbVar:nssv15132128|nssv15139349|dbVar:nssv15134982|dbVar:nssv15135883|dbVar:nssv15133394|nssv16091745|dbVar:nssv15132006|nssv15139990|dbVar:nssv15137884|dbVar:nssv15133435|dbVar:nssv18792765|dbVar:nssv15135454|dbVar:nssv15133438|nssv15140028|dbVar:nssv15132230|nssv15139684|dbVar:nssv15132655|nssv15139976|dbVar:nssv15136079|dbVar:nssv15132507|nssv15139975|dbVar:nssv15132389|dbVar:nssv17976452|dbVar:nssv15164040|dbVar:nssv15137872|dbVar:nssv16254738|dbVar:nssv15127636|dbVar:nssv15128166|dbVar:nssv15127784|dbVar:nssv16208773|dbVar:nssv15145231|dbVar:nssv15145040|dbVar:nssv18786377|dbVar:nssv15145232|dbVar:nssv15139558|dbVar:nssv15163611|dbVar:nssv16215256|dbVar:nssv15128065|dbVar:nssv17955534|dbVar:nssv15163612|dbVar:nssv15145462|dbVar:nssv15145233|dbVar:nssv15163613|dbVar:nssv15132390|dbVar:nssv15163614|dbVar:nssv15162012|dbVar:nssv15139255|dbVar:nssv15162013|dbVar:nssv15162015|dbVar:nssv17976449|dbVar:nssv17955549|dbVar:nssv15162016|nssv16215222|nssv16215239|nssv16865884|dbVar:nssv15162017|dbVar:nssv15164042|dbVar:nssv15143222|dbVar:nssv15162018|dbVar:nssv16865881|dbVar:nssv15164043|dbVar:nssv15755824|dbVar:nssv17650004|dbVar:nssv17649858|dbVar:nssv16297048|dbVar:nssv17517456|dbVar:nssv15141730|dbVar:nssv15126093|dbVar:nssv15125439|dbVar:nssv15755804|dbVar:nssv15121171|dbVar:nssv15133439|dbVar:nssv15132392|dbVar:nssv15132132|dbVar:nssv15133440|dbVar:nssv15136213|dbVar:nssv15605874|nssv15605879|dbVar:nssv17976881|dbVar:nssv15119655|dbVar:nssv18842051|dbVar:nssv17173212|dbVar:nssv17173202|dbVar:nssv18792648|dbVar:nssv16091922|dbVar:nssv15143862|dbVar:nssv17976675|dbVar:nssv18830700|dbVar:nssv18786378|dbVar:nssv18786379|dbVar:nssv15140698|dbVar:nssv15139562|dbVar:nssv15140747|dbVar:nssv15140051|dbVar:nssv15133317|nssv15143213|dbVar:nssv15131926|dbVar:nssv15605919|dbVar:nssv15755810|HI3:ISCA-37446|dbVar:nssv15139269|dbVar:nssv15137499|dbVar:nssv15138712|dbVar:nssv18330193|dbVar:nssv15139855|nssv18326386|dbVar:nssv15139854|nssv15153270|dbVar:nssv15154016|nssv17976890|dbVar:nssv15152149|dbVar:nssv15137491|dbVar:nssv18330326|dbVar:nssv18329598|dbVar:nssv18330218|dbVar:nssv15141653|dbVar:nssv15142207|dbVar:nssv15755814|dbVar:nssv15132248|nssv15139690|dbVar:nssv15134351|dbVar:nssv15132463|nssv15139699|dbVar:nssv15132523|dbVar:nssv15155695|dbVar:nssv18831006|dbVar:nssv17976279|dbVar:nssv15139289|dbVar:nssv15139467|dbVar:nssv15142401|dbVar:nssv15134356|dbVar:nssv18330006|dbVar:nssv15137446|dbVar:nssv17976741|dbVar:nssv15153268|dbVar:nssv15156357|dbVar:nssv18842023|dbVar:nssv15132608|dbVar:nssv15145465|dbVar:nssv15145466|dbVar:nssv15145235|dbVar:nssv15772502|dbVar:nssv15154008|dbVar:nssv15156354|dbVar:nssv15755308|nssv15755309|dbVar:nssv15155696|dbVar:nssv18330327|dbVar:nssv18326378|dbVar:nssv18329593|dbVar:nssv18330275|dbVar:nssv18329587|dbVar:nssv18329620|dbVar:nssv17956682|dbVar:nssv15776637|dbVar:nssv17649919|dbVar:nssv18326434|dbVar:nssv18326440|dbVar:nssv15120712|dbVar:nssv15139564|dbVar:nssv16208598|dbVar:nssv15755307|dbVar:nssv15156347|dbVar:nssv18330257|dbVar:nssv15755311|dbVar:nssv17957425|dbVar:nssv15121593|dbVar:nssv15154007|dbVar:nssv15134856|dbVar:nssv18330729|dbVar:nssv18330196|dbVar:nssv17977102;po_P_loss_coord=22:16087695-19363465|22:16888900-20125005|22:16888900-20730144|22:16888901-20026751|22:17019016-20718227|22:17177912-19892632|22:17397499-20311763|22:17397499-20708934|22:17565983-20052185|22:18475386-23764120|22:18626109-21800797|22:18628020-21464119|22:18628020-21505417|22:18628133-21561468|22:18628133-21883879|22:18628148-21440515|22:18631365-21800471|22:18636750-21800471|22:18639781-21910280|22:18641480-21712996|22:18641480-21722262|22:18642647-21717111|22:18642647-21742277|22:18644242-21465662|22:18644543-21465659|22:18644544-21800797|22:18644791-21798907|22:18644791-21800471|22:18644791-21915509|22:18644792-21041014|22:18645354-21800797|22:18646694-21631412|22:18648857-21465662|22:18648867-21798907|22:18648867-21800797|22:18648868-21465659|22:18650665-21440455|22:18650676-21455556|22:18655799-21726191|22:18660136-21737597|22:18660554-21455556|22:18661700-21457610|22:18661700-21505445|22:18661725-20659606|22:18661725-21440514|22:18661725-21461811|22:18661725-21464119|22:18661725-21505417|22:18661725-21561514|22:18661725-21809009|22:18671630-21536841|22:18689517-21588615|22:18706002-20311763|22:18706002-20659606|22:18706002-21025713|22:18706002-21440514|22:18706002-21464119|22:18706002-21505417|22:18706002-21809009|22:18718029-21326012|22:18728119-21811991|22:18765086-21661435|22:18765103-21661435|22:18788000-21065894|22:18788000-21468378|22:18788000-21684798|22:18789966-21591197|22:18790223-21697998|22:18820423-21477877|22:18834446-21414817|22:18834453-21575702|22:18844633-21463730|22:18844633-21608479|22:18844633-21797812|22:18848021-21468378|22:18861210-21630630|22:18861749-21463730|22:18868433-20331055|22:18868433-21477877|22:18872509-21465050|22:18874457-20306317|22:18875870-21470273|22:18875957-21466715|22:18876631-21465659|22:18878410-21465050|22:18878410-21907671|22:18884515-21484289|22:18884715-21483289|22:18886916-21463730|22:18886916-21465050|22:18886916-21467387|22:18886916-21811991|22:18889491-20312668|22:18889491-21463730|22:18889491-21466715|22:18889491-21917190|22:18889572-21464697|22:18889694-21465485|22:18889951-21466053|22:18889970-21462658|22:18890043-21440455|22:18890163-21464056|22:18890222-21561468|22:18890265-21540347|22:18890272-18999862|22:18890272-20328113|22:18890272-20659606|22:18890272-21394730|22:18890272-21461811|22:18891527-21796215|22:18892576-21460220|22:18893345-21650280|22:18893736-18924066|22:18893839-20307561|22:18893883-21563420|22:18893883-21571027|22:18893887-21386103|22:18893888-18923800|22:18893889-18973671|22:18893889-21414817|22:18893889-21481925|22:18893889-21570386|22:18894079-21414817|22:18894340-20255110|22:18894340-20255154|22:18894340-21440455|22:18894340-21440514|22:18894836-21505417|22:18894836-21561514|22:18900756-21800277|22:18912232-21465672|22:18912232-21465672|22:18916828-21465662|22:18916829-21465659|22:18916829-21465662|22:18916829-21800797|22:18916843-21465659|22:18916843-21465662|22:18916843-21798907|22:18916843-21804716|22:18916843-21804886|22:18916844-21465659|22:18916844-21800471|22:18916844-21915509|22:18917048-21465659|22:18917048-21465662|22:18919478-21800471|22:18919943-21505417|22:18919943-21505558|22:18919943-21561514|22:18919943-21809009|22:18935464-21465659|22:18936190-21464809|22:18936191-21464809|22:18970562-21465662|22:19024657-21465659|22:19024658-21465662|22:19029603-21505417|22:19046678-21465662|22:20279767-23822986|22:20310411-21804886|22:20311904-21465659|22:20311904-21800797|22:20609933-21576553|22:20659548-21561514|22:20703817-21503296|22:20703817-21631412|22:20713276-21477877|22:20716877-21465659|22:20716877-21465662|22:20716877-21798907|22:20716877-21800471|22:20716877-23819697|22:20716878-21465659|22:20725309-21465659|22:20725310-21804563|22:20725319-21800797|22:20728958-21798907|22:20728958-21800797|22:20728958-21915096|22:20729389-21465662|22:20730997-21465342|22:20732809-21465659|22:20732809-21800471|22:20733428-21505417|22:20749626-23972878|22:21029656-22481498|22:21033587-21800471|22:21049800-21465662|22:21049801-21465662|22:21059670-21800471|22:21059670-21804716|22:21065883-21937680|22:21075676-21465662|22:21081261-24593820|22:21092649-21465662|22:21188488-21804597|22:21462567-22962196;po_P_loss_percent=14.31|38.01|47.78|36.07|49.29|36.76|48.62|54.78|46.55|48.58|80.93|90.59|89.29|87.59|78.92|90.52|81.07|81.21|78.56|83.65|83.40|83.57|82.89|91.06|91.07|81.40|81.46|81.42|78.55|89.57|81.42|86.08|91.21|81.56|81.51|91.21|91.25|91.30|83.68|83.49|91.62|91.66|90.35|88.33|91.61|91.67|91.68|90.35|88.60|81.63|89.67|88.62|88.24|90.33|91.86|93.09|93.15|91.78|82.80|93.22|83.31|88.71|88.71|95.31|95.86|88.69|91.72|88.36|96.68|97.66|93.73|98.08|92.96|87.00|98.05|92.77|98.73|98.19|98.46|99.10|98.58|99.03|99.17|99.24|99.33|84.82|98.83|98.87|99.69|99.66|99.57|87.84|99.62|99.79|99.69|84.86|99.77|99.75|99.74|99.81|99.81|99.82|96.18|96.95|95.84|99.68|99.74|99.82|99.82|88.45|99.91|93.19|96.37|99.93|96.24|95.97|99.96|96.83|98.81|99.96|99.28|95.99|99.97|99.96|99.96|99.98|99.98|98.42|96.35|88.41|99.94|99.94|99.94|99.94|99.94|88.33|99.94|99.94|88.38|88.21|88.20|99.94|88.34|84.95|99.94|99.94|88.33|98.40|98.40|96.31|88.06|99.94|99.97|99.97|99.94|99.94|99.94|98.33|99.94|33.43|77.20|99.87|77.39|88.37|89.20|95.10|81.96|98.20|99.79|99.79|69.06|68.96|24.08|99.79|99.79|68.46|68.70|68.71|68.59|61.98|99.79|99.83|99.79|68.50|94.65|22.17|29.92|56.14|99.63|99.63|54.60|54.29|45.68|99.60|10.90|99.59|44.74|0.10;P_snvindel_nb=382,.,9,.,.,.,.,.,.,.,.,.,9,.,.,.,.,.,7,1,.,.,9,9,21,.,.,.,1,.,.,16,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,3,.,.,.,.,8,.,10,.,.,.,287,.,.,.,.,.,.,.,.,.;P_snvindel_phen=2-hydroxyglutaric_aciduria|Abnormality_of_metabolism/homeostasis|Acute_rhabdomyolysis|Autism_spectrum_disorder|Bardet-Biedl_syndrome|Bernard_Soulier_syndrome|CEDNIK_syndrome|CLDN5-related_neurodevelopmental_disorder|Cardiac_arrhythmia|Cardiovascular_phenotype|D,L-2-hydroxyglutaric_aciduria|DiGeorge_syndrome|Episodic_flaccid_weakness|Fetal_cystic_hygroma|Hereditary_cancer-predisposing_syndrome|Hypomyelinating_leukodystrophy_2|Inborn_genetic_diseases|Intellectual_disability|LZTR1-related_condition|LZTR1-related_disorders|Macrothrombocytopenia|Meier-Gorlin_syndrome_7|Metabolic_crises_with_rhabdomyolysis,_cardiac_arrhythmias,_and_neurodegeneration|Mild_macrothrombocytopenia|Myasthenic_syndrome,_congenital,_23,_presynaptic|Noonan_syndrome|Noonan_syndrome_10|Noonan_syndrome_2|Noonan_syndrome_and_Noonan-related_syndrome|PI4KA-Related_Disorders|Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis|Proline_dehydrogenase_deficiency|RASopathy|Recurrent_metabolic_encephalomyopathic_crises-rhabdomyolysis-cardiac_arrhythmia-intellectual_disability_syndrome|SLC25A1-related_condition|Schwannomatosis|Schwannomatosis_2|See_cases|Seizure|Short_stature|Spastic_paraplegia_84,_autosomal_recessive|Thrombocytopenia|Van_den_Ende-Gupta_syndrome|Velocardiofacial_syndrome,.,Inborn_genetic_diseases|Proline_dehydrogenase_deficiency,.,.,.,.,.,.,.,.,.,2-hydroxyglutaric_aciduria|D,L-2-hydroxyglutaric_aciduria|Inborn_genetic_diseases|Myasthenic_syndrome,_congenital,_23,_presynaptic|SLC25A1-related_condition,.,.,.,.,.,Meier-Gorlin_syndrome_7,CLDN5-related_neurodevelopmental_disorder,.,.,Bernard_Soulier_syndrome|Macrothrombocytopenia|Mild_macrothrombocytopenia|Thrombocytopenia,Bernard_Soulier_syndrome|Macrothrombocytopenia|Mild_macrothrombocytopenia|Thrombocytopenia,DiGeorge_syndrome|Inborn_genetic_diseases|Velocardiofacial_syndrome,.,.,.,Bardet-Biedl_syndrome,.,.,Abnormality_of_metabolism/homeostasis|Acute_rhabdomyolysis|Cardiac_arrhythmia|Episodic_flaccid_weakness|Inborn_genetic_diseases|Intellectual_disability|Metabolic_crises_with_rhabdomyolysis,_cardiac_arrhythmias,_and_neurodegeneration|Recurrent_metabolic_encephalomyopathic_crises-rhabdomyolysis-cardiac_arrhythmia-intellectual_disability_syndrome|Seizure,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Van_den_Ende-Gupta_syndrome,.,.,.,.,PI4KA-Related_Disorders|Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis|Spastic_paraplegia_84,_autosomal_recessive,.,CEDNIK_syndrome|Hypomyelinating_leukodystrophy_2,.,.,.,Autism_spectrum_disorder|Cardiovascular_phenotype|Fetal_cystic_hygroma|Hereditary_cancer-predisposing_syndrome|Inborn_genetic_diseases|LZTR1-related_condition|LZTR1-related_disorders|Noonan_syndrome|Noonan_syndrome_10|Noonan_syndrome_2|Noonan_syndrome_and_Noonan-related_syndrome|RASopathy|Schwannomatosis|Schwannomatosis_2|See_cases|Short_stature,.,.,.,.,.,.,.,.,.;B_gain_source=.,DDD:56146|DDD:56173|DDD:56174|dbVar|dgv543n27|dgv99e203|gnomAD-SV_v2.1_DUP_22_50647,DDD:56146|DDD:56173|DDD:56174|dbVar|dgv543n27|dgv99e203|gnomAD-SV_v2.1_DUP_22_50647,1000g|DDD:56146|DDD:56173|DDD:56174|dbVar|dgv543n27|dgv99e203|esv3647250|gnomAD-SV_v2.1_DUP_22_50652,dgv543n27,dbVar|dgv543n27,.,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,.,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,.,.,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,.,.,.,.,.,.,.,DDD:56225|DDD:56226|dbVar,DDD:56225|DDD:56226|DDD:56232|DDD:56234|dbVar,DDD:56226|DDD:56232|DDD:56234|dbVar,DDD:56226|DDD:56232|dbVar,DDD:56226|dbVar,DDD:56226|dbVar,DDD:56226|dbVar,DDD:56226|DDD:56255|dbVar,dbVar,dbVar,.,.,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar|esv2760719,dbVar|esv2760719,dbVar|esv2760719,dbVar|esv2760719;B_gain_coord=.,22:18655861-19006984|22:18667571-18994853|22:18876429-19006125|22:18877788-19033532|22:18882313-19012377|chr22:18884850-18926400|22:18884850-18926400,22:18655861-19006984|22:18667571-18994853|22:18876429-19006125|22:18877788-19033532|22:18882313-19012377|chr22:18884850-18926400|22:18884850-18926400,22:18655861-19006984|22:18667571-18994853|22:18876429-19006125|22:18877788-19033532|22:18882313-19012377|chr22:18912157-18998999|22:18912158-18998999|22:18912158-18998999|chr22:18924000-18940000|22:18924000-18940000,22:18877788-19033532,22:18877788-19033532|chr22:18998500-19027500|chr22:19015177-19088691,.,chr22:19015177-19088691|chr22:19030334-19103057|chr22:19031999-19054000,chr22:19072999-19342000,chr22:19072999-19342000|chr22:19096500-19120500,chr22:19072999-19342000,chr22:19072999-19342000,chr22:19072999-19342000,chr22:19072999-19342000,.,chr22:19344390-19544397,chr22:19344390-19544397,chr22:19344390-19544397,chr22:19344390-19544397,chr22:19344390-19544397,chr22:19531786-19559055|chr22:19531786-19666087,.,.,chr22:19707371-19866503|chr22:19710000-19716000,chr22:19707371-19866503,chr22:19707371-19866503,chr22:19707371-19866503|chr22:19821999-20108150,chr22:19821999-20108150,chr22:19821999-20108150,chr22:19821999-20108150,chr22:19821999-20108150,chr22:19821999-20108150|chr22:19973106-20124645,chr22:19821999-20108150|chr22:19973106-20124645|chr22:20015350-20023000,chr22:19821999-20108150|chr22:19973106-20124645,chr22:19821999-20108150|chr22:19973106-20124645,chr22:19821999-20108150|chr22:19973106-20124645,chr22:19821999-20108150|chr22:19973106-20124645,chr22:19821999-20108150|chr22:19973106-20124645,chr22:19973106-20124645,chr22:19973106-20124645|chr22:20109000-20115000|chr22:20112900-20120550,.,.,.,.,.,.,.,chr22:20310677-20370753|chr22:20310677-20503817|22:20313251-20369884|22:20322450-20718598,chr22:20310677-20370753|chr22:20310677-20503817|22:20313251-20369884|22:20322450-20718598|22:20330330-20450295|22:20343574-20380608,chr22:20310677-20503817|22:20322450-20718598|22:20330330-20450295|22:20343574-20380608|chr22:20370753-20489646|chr22:20370753-20503717,chr22:20310677-20503817|22:20322450-20718598|22:20330330-20450295|chr22:20370753-20489646|chr22:20370753-20503717,chr22:20310677-20503817|22:20322450-20718598|chr22:20370753-20489646|chr22:20370753-20503717,chr22:20310677-20503817|22:20322450-20718598|chr22:20370753-20489646|chr22:20370753-20503717|chr22:20465500-20509200,22:20322450-20718598|chr22:20610555-20718305,22:20322450-20718598|chr22:20610555-20718305|22:20659548-20717455,chr22:20722999-20763000|chr22:20746552-20846353|chr22:20747116-20782223,chr22:20746552-20846353|chr22:20763251-20802665,.,.,chr22:20989999-21481000|chr22:21036802-21046081|chr22:21036802-21053355|chr22:21037000-21051000,chr22:20989999-21481000|chr22:21051000-21059000,chr22:20989999-21481000,chr22:20989999-21481000|chr22:21078735-21159481,chr22:20989999-21481000,chr22:20989999-21481000|chr22:21256865-21435776,chr22:20989999-21481000|chr22:21256865-21435776,chr22:20989999-21481000|chr22:21256865-21435776,chr22:20989999-21481000|chr22:21256865-21435776,chr22:20989999-21481000|chr22:21256865-21435776,chr22:20989999-21481000|chr22:21256865-21435776,chr22:20989999-21481000|chr22:21256865-21435776,chr22:20989999-21481000|chr22:21256865-21435776,chr22:20989999-21481000|chr22:21256865-21435776|chr22:21372999-21431350,chr22:20989999-21481000|chr22:21256865-21435776|chr22:21372999-21431350|22:21383283-21845355|chr22:21384000-21389000,chr22:20989999-21481000|chr22:21256865-21435776|chr22:21372999-21431350|22:21383283-21845355,chr22:20989999-21481000|chr22:21256865-21435776|chr22:21372999-21431350|22:21383283-21845355,chr22:20989999-21481000|22:21383283-21845355|chr22:21453999-21469000|chr22:21455959-21464881;B_gain_AFmax=.,0.0355,0.0355,0.0355,0.01,0.01,.,0.01,0.01,0.01,0.01,0.01,0.01,0.01,.,0.01,0.01,0.01,0.01,0.01,0.01,.,.,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,.,.,.,.,.,.,.,0.0509,0.0509,0.0509,0.0509,0.0509,0.0509,0.0509,0.0509,0.01,0.01,.,.,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01,0.01;B_loss_source=.,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,DDD:56225|DDD:56226|dbVar,DDD:56225|DDD:56226|DDD:56232|DDD:56234|dbVar,DDD:56226|DDD:56232|DDD:56234|dbVar,DDD:56226|DDD:56232|dbVar,DDD:56226|HI40:ISCA-46728|dbVar|dgv817e199,DDD:56226|HI40:ISCA-46728|dbVar|dgv817e199,DDD:56226|dbVar,DDD:56226|DDD:56255|dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar,dbVar;B_loss_coord=.,chr22:18884924-19013000|chr22:18884925-18927000,chr22:18884924-19013000|chr22:18884925-18927000,chr22:18884924-19013000|chr22:18912157-18998999,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000|chr22:19161075-19192940,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000|chr22:19528613-19558447|chr22:19531786-19559055,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000,chr22:18934999-21466000|22:20313251-20369884|22:20322450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164-22613666|22:19014638-21718005|22:21042853-21483407,22:17036164-22613666|22:19014638-21718005|22:21042853-21483407,22:17036164-22613666|22:19014638-21718005|22:21042853-21483407,22:17036164-22613666|22:19014638-21718005|22:21042853-21483407,22:17036164-22613666|22:19014638-21718005|22:21042853-21483407,22:17036164-22613666|22:19014638-21718005|22:21042853-21483407,22:17036164-22613666|22:19014638-21718005|22:21042853-21483407,22:17036164-22613666|22:19014638-21718005|22:21042853-21483407,22:17036164-22613666|22:19014638-21718005|22:21042853-21483407,22:17036164-22613666|22:19014638-21718005|22:21042853-21483407;B_inv_AFmax=0.1686,0.1686,0.1686,0.1686,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.4801,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686,0.1686;po_B_gain_someG_source=22:18667571-18994853_DDD:56146|22:18877788-19033532_dgv543n27|chr22:18884850-18926400_dbVar|chr22:18897380-18897885_dbVar|chr22:18905003-18905655_dbVar|chr22:18908214-18916245_dbVar|22:18912158-18998999_1000g|chr22:18915430-18916245_dbVar|chr22:18920000-18927000_dbVar|chr22:18924000-18940000_dbVar|chr22:18928500-18933600_dbVar|chr22:18936140-18938323_dbVar|chr22:18958405-18962239_dbVar|chr22:18976999-19012000_dbVar|chr22:18986988-18991101_dbVar|chr22:18995665-18996607_dbVar|chr22:19006777-19007455_dbVar|chr22:19015177-19088691_dbVar|chr22:19030334-19103057_dbVar|chr22:19050376-19063398_dbVar...;po_B_gain_someG_coord=22:18655861-19006984_dgv99e203|22:18876429-19006125_DDD:56173|22:18882313-19012377_DDD:56174|22:18884850-18926400_gnomAD-SV_v2.1_DUP_22_50647|chr22:18897885-18898551_dbVar|chr22:18908116-18908214_dbVar|chr22:18912157-18998999_dbVar|22:18912158-18998999_esv3647250|chr22:18917245-18921869_dbVar|chr22:18922181-18922289_dbVar|22:18924000-18940000_gnomAD-SV_v2.1_DUP_22_50652|chr22:18932850-18939000_dbVar|chr22:18946999-18963000_dbVar|chr22:18959589-18974015_dbVar|chr22:18979229-18981697_dbVar|chr22:18991101-19003643_dbVar|chr22:18998500-19027500_dbVar|chr22:19006877-19007455_dbVar|chr22:19023959-19024069_dbVar|chr22:19031999-19054000_dbVar...;po_B_loss_someG_source=chr22:18884925-18927000_dbVar|chr22:18912157-18998999_dbVar|chr22:18920358-18923595_dbVar|chr22:18934402-18934486_dbVar|chr22:18938445-18969406_dbVar|chr22:18961454-18962214_dbVar|chr22:18977575-18977640_dbVar|chr22:18977576-18977640_dbVar|chr22:18979860-18979920_dbVar|chr22:18984228-18985696_dbVar|chr22:18994879-18998062_dbVar|chr22:18997267-19009786_dbVar|chr22:19008418-19009937_dbVar|chr22:19041070-19041296_dbVar|chr22:19050181-19050386_dbVar|chr22:19063483-19063613_dbVar|22:19063767-19063900_gnomAD-SV_v2.1_DEL_22_181349|chr22:19087245-19091323_dbVar|chr22:19091546-19099675_dbVar|chr22:19099906-19100607_dbVar...;po_B_loss_someG_coord=chr22:18884924-19013000_dbVar|chr22:18902898-18902992_dbVar|chr22:18912910-18913458_dbVar|chr22:18929400-18935100_dbVar|chr22:18934999-21466000_dbVar|chr22:18943458-18943555_dbVar|chr22:18961457-18962214_dbVar|22:18977576-18977640_1000g|22:18977576-18977640_gnomAD-SV_v2.1_DEL_22_181334|chr22:18980769-18984165_dbVar|chr22:18990004-18990064_dbVar|chr22:18997195-19009720_dbVar|chr22:19006733-19006786_dbVar|chr22:19008684-19010259_dbVar|chr22:19050028-19050086_dbVar|chr22:19054635-19055096_dbVar|chr22:19063767-19063900_dbVar|chr22:19085539-19085825_dbVar|chr22:19091504-19102801_dbVar|22:19098616-19100995_dgv1286e212...;Cosmic_ID=325921|868289|16521|344527|344990|336054|337864|1189150|2526221|921730|347979|681737|674280|676645|64889|73372|74042|14568|552226|393066|393067|606697|1010990|1011193|1011198|1011201|1011203|988609|1919439|2386524|1215466|3038163|334661|1009921|347980|540341|366288|357345|101360|153623|1311717|1782887|2534354|2206583|844141|1573312|666970|81317|557557|612401|227094|...,.,64889|73372|74042|14568|540341|81317|227094,.,.,.,768143|122920|768144|768145|742665|205629|742666|768146|724948|2058016|2381098,.,.,.,.,.,.,724952|22726|768149|546696,724953|521179|520035,.,.,724954|724955|724956|768151,768153|724957,.,.,.,.,.,.,724966|344529|950816|951023|951040|951043,.,979497|98439|98826|98831|485936|367919|1066921|778842|1068069|1064219|724968|724969,1059497|1060872|1060985|1067989|1061244|1070187|1070348|1074180|1064577|1067754|1069000|1071230|1071315|1065708|1070037|1070098|1074085|1070821|290501|257442,.,871048|393084|393085|35010|35386|44709|498907|263488|847960|20575,545395|290503|301777|286870|290504,.,768159,.,.,.,.,724972,.,768162,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,342985|1011827|329413|334666,724981|568169|724982|724983|724984|724985|724986|724987,.,.,.,513199|263494|724990|724991|768172|768173|1061246|1068660|1060873|1070188|1065051|1068661|1073865|1068662|1069644|1066059|724992|724993|367925|2069010|724994|724995|75440,724992|724993,.,687520|325941,.,.,687522,.,.,.,724998,.,.,.,725000,.;Cosmic_mut_typ=loss|gain,.,loss,.,.,.,gain|loss,.,.,.,.,.,.,loss,loss,.,.,gain|loss,loss,.,.,.,.,.,.,loss|gain,.,gain|loss,loss|gain,.,gain|loss,loss|gain,.,loss,.,.,.,.,loss,.,loss,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,gain|loss,gain|loss,.,.,.,loss|gain,loss,.,gain,.,.,gain,.,.,.,loss,.,.,.,loss,.;GC_content_left=0.445;GC_content_right=0.32;Repeat_coord_left=22:18894850-18894969;Repeat_type_left=L1ME2z;Repeat_coord_right=22:21464126-21464591;Repeat_type_right=L1MA7;SegDup_left=22:18889511-18912230;HI=1,.,30,.,.,.,.,.,.,.,.,.,30,.,0,.,.,.,.,.,.,.,.,30,2,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,30,.,.,.,.,.,.,30,1,.,.,.,.,.,.,.,.,.,.,.,.;TS=.,.,0,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.;DDD_HI_percent=97.89,61.1,45.38,.,.,.,39.12,.,.,33.13,65.74,.,46.07,72.86,19.48,54.99,70.45,.,8.4,50.93,.,.,.,78.01,4.92,48.57,.,72.21,40.8,.,54.56,51.91,.,5.07,.,.,68.23,.,8.76,.,37.82,.,.,.,35.77,.,79.33,97.89,94.16,.,.,90.21,.,.,.,86.28,70.17,41.2,24.41,.,.,35.17,68.88,61.36,4.35,.,38.59,32.82,50.87,.,.,76.26,74.02,.,.,.,.;ExAC_delZ=-0.807902299547855,.,.,.,.,.,.,.,.,-2.62354415217069,.,.,-2.62354415217069,-2.62354415217069,-2.51547904504873,-2.62354415217069,-2.53806827104914,.,-2.57292784443109,.,.,.,.,.,-2.62354415217069,-2.62354415217069,.,-2.62354415217069,-2.62354415217069,.,-2.62354415217069,-2.62354415217069,.,-2.46581011772843,.,.,-2.62354415217069,.,-2.62354415217069,.,-2.62354415217069,.,.,.,.,.,.,.,.,.,.,.,.,.,.,-1.30437956536809,-1.42333559636086,-1.60479766897668,.,.,.,.,-1.06265755233802,-1.39880243235913,-0.928255048107525,.,-1.14442881641699,-1.25119505668143,-1.44618961523547,.,.,-1.8606303493434,-0.807902299547855,.,.,.,.;ExAC_dupZ=-1.20830830104818,.,.,.,.,.,.,.,.,-2.53125239294469,.,.,-2.53125239294469,-2.53125239294469,-2.53125239294469,-2.53125239294469,-2.53125239294469,.,-2.53125239294469,.,.,.,.,.,-2.53125239294469,-2.53125239294469,.,-2.53125239294469,-2.53125239294469,.,-2.53125239294469,-2.53125239294469,.,-2.53125239294469,.,.,-2.53125239294469,.,-2.53125239294469,.,-2.53125239294469,.,.,.,.,.,.,.,.,.,.,.,.,.,.,-1.89912490049618,-1.93669033911618,-1.94085802577819,.,.,.,.,-1.49456297636655,-1.53414994058354,-1.20830830104818,.,-1.26664892202732,-1.28020537251329,-1.52989215323949,.,.,-1.51336493990188,-1.26588610868392,.,.,.,.;ExAC_cnvZ=-0.791505674827999,.,.,.,.,.,.,.,.,-2.47162789907313,.,.,-2.47162789907313,-2.47162789907313,-2.47162789907313,-2.47162789907313,-2.47162789907313,.,-2.47162789907313,.,.,.,.,.,-2.47162789907313,-2.47162789907313,.,-2.47162789907313,-2.47162789907313,.,-2.47162789907313,-2.47162789907313,.,-2.47162789907313,.,.,-2.47162789907313,.,-2.47162789907313,.,-2.47162789907313,.,.,.,.,.,.,.,.,.,.,.,.,.,.,-1.51976012533128,-1.61173791689534,-1.599983320827,.,.,.,.,-1.03231231326932,-1.19910660480315,-0.791505674827999,.,-0.922844550293754,-0.946080819110286,-1.19895133869269,.,.,-1.2805127161158,-1.04316708587741,.,.,.,.;ExAC_synZ=2.94244265911253,-0.678746019468492,0.360135634788785,.,.,.,-0.375038933750903,.,.,-0.184731887964386,1.18735715980007,.,0.459211010381399,-0.597972033048653,-0.543665561522748,0.0822917398873284,0.128056348383697,.,0.554183575869215,2.94244265911253,.,.,.,-0.002241469611443,2.36782594176173,-0.373621593221624,.,0.348188483468328,0.465852147917107,.,0.425870777992255,1.46130508236304,.,0.690563071344625,.,.,-1.98609532754524,.,-1.04492215962902,.,-0.408428770523539,.,.,.,-0.800223805913347,.,0.698499439551705,.,.,.,.,.,.,.,.,2.28676628831896,.,-0.0046056816669864,0.672972182845271,.,.,1.20573288011437,-0.289055396385536,1.58078637399342,0.477351976371369,.,0.687283106386744,0.246895000414255,-1.50983365445593,.,.,-0.990180484365383,-0.387275128092876,.,.,.,.;ExAC_misZ=5.29477062168781,-0.22775445384527,0.772811927860626,.,.,.,0.817637812863819,.,.,1.02819617031079,0.932740471460801,.,1.99698466418685,-1.19469008098196,3.98018572942351,-0.450618700229176,0.836381939603491,.,1.2901097836858,3.34022892264706,.,.,.,0.855158778511627,3.38001100960461,0.590344002361273,.,0.327140414338646,0.557839148920189,.,-0.701931719398633,0.279301120222081,.,4.03153091509844,.,.,-0.363927890852326,.,2.06932219421127,.,2.39258092860216,.,.,.,1.18081437151802,.,0.174075190759776,.,.,.,.,.,.,.,.,2.39892044394279,.,2.85964800561254,2.65389095774821,.,.,5.29477062168781,-0.349034099945665,-0.841707455415557,3.00980268645085,.,1.33036583543754,0.909128978651125,1.16392737773964,.,.,-0.63060581685217,-1.12481109733158,.,.,.,.;GenCC_disease=.,.,hyperprolinemia_type_1,.,.,.,schizophrenia,.,.,.,.,.,D,L-2-hydroxyglutaric_aciduria|myasthenic_syndrome,_congenital,_23,_presynaptic|presynaptic_congenital_myasthenic_syndrome,congenital_insensitivity_to_pain_with_severe_intellectual_disability|multiple_congenital_anomalies/dysmorphic_syndrome,.,.,.,.,Meier-Gorlin_syndrome|Meier-Gorlin_syndrome_7,.,.,.,.,Bernard-Soulier_syndrome|autosomal_dominant_macrothrombocytopenia,22q11.2_deletion_syndrome|DiGeorge_syndrome|conotruncal_heart_malformations|velocardiofacial_syndrome,.,.,dilated_cardiomyopathy|familial_glucocorticoid_deficiency|familial_isolated_dilated_cardiomyopathy|glucocorticoid_deficiency_5,paroxysmal_dyskinesia,.,.,metabolic_encephalomyopathic_crises,_recurrent,_with_rhabdomyolysis,_cardiac_arrhythmias,_and_neurodegeneration|recurrent_metabolic_encephalomyopathic_crises-rhabdomyolysis-cardiac_arrhythmia-intellectual_disability_syndrome,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,van_den_Ende-Gupta_syndrome,.,.,.,.,polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis,heparin_cofactor_2_deficiency,CEDNIK_syndrome,.,.,.,Noonan_syndrome|Noonan_syndrome_10|Noonan_syndrome_2|schwannomatosis_2,.,.,.,.,.,.,.,.,.;GenCC_moi=.,.,AR,.,.,.,AD,.,.,.,.,.,AD|AR,AD|AR,.,.,.,.,AD|AR,.,.,.,.,AD|AR,AD,.,.,AD|AR,AD,.,.,AR,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,AR,.,.,.,.,AR,AD,AR,.,.,.,AD|AR,.,.,.,.,.,.,.,.,.;GenCC_classification=.,.,Definitive|Strong|Supportive,.,.,.,Limited,.,.,.,.,.,Limited|Strong|Supportive,Limited|Supportive,.,.,.,.,Definitive|Strong|Supportive,.,.,.,.,Definitive|Strong|Supportive,Definitive|Strong|Supportive,.,.,Limited|Supportive,Moderate,.,.,Moderate|Strong,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,Definitive|Limited|Moderate|Strong|Supportive,.,.,.,.,Definitive|Moderate|Strong,Definitive|Limited|Strong,Strong|Supportive,.,.,.,Definitive|Moderate|Strong|Supportive,.,.,.,.,.,.,.,.,.;GenCC_pmid=.,.,10192398|12217952|12525555|15662599|19736351|20524212|20524212[PMID]_23462603[PMID]|23462603|26978485|28202261|28851938|5031477,.,.,.,.,.,.,.,.,.,23561848|23561848[PMID]_23393310[PMID]|26273529|26870663|29238895|31527857|31808147|NULL,26068709[PMID],.,.,.,.,11416137|121376|149250|27374770|27374770[PMID]|282832|30986546,.,.,.,.,10887115|12447957|15213102|18825380|19484238|22886561[PMID]|23995613|28064200[PMID],11239417|11242049|11242110|11748311|14585638|14585638[PMID]|18636631|192430|20054531|20937753|24637876|24998776|25860641|29500247,.,.,21247928[PMID]|24601690[PMID]|30237576|32476818,.,.,.,26805781|26805782,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,20887961|20887961[PMID]_22140376[PMID]|21108395|22140376|23808541|24478002|3808541,.,.,.,.,25855803|29738522|30614210|34415310|34415322,15337701|2647747|277130|8562924,15968592|15968592[PMID]_21073448[PMID]|21073448|23231787|25473036|26747696,.,.,.,15955931|16534111|23401320|24362817|25335493|25480913|25795793|25795793[PMID]|26446362|274799|278971|287232|29469822|30368668|303983|30442762|30442766|30481304|30664951|30859559|31533111|31825158,.,.,.,.,.,.,.,.,.;NCBI_gene_ID=.,8214,5625,.,26220,117134596,9993,25786,8220,23617,2928,100652736,6576,8218,7290,64976,128977,7353,8318,7122,150185,5413,.,2812,6899,54584,79680,10587,1312,100616414,421,128989,406961,54487,100500860,100302197,27037,102465490,5902,109617010,29801,388849,284865,150197,65078,100302118,85359,653203,728226,728229,728233,85376,117134597,729461,101927859,7625,91179,84861,51586,266697,84222,5297,3053,9342,1399,101928891,150209,8216,80764,439931,113691,9127,6545,693234,440799,400891,400892;OMIM_ID=606810|190315|603465|138720|602054|606448|116790|616830|605566|613619|600286|142360|604202|600574,.,606810,.,.,.,.,.,.,.,.,.,190315,.,.,.,.,.,603465,.,.,.,.,138720,602054,.,.,606448,116790,.,.,616830,.,.,.,.,.,.,.,.,.,.,.,.,605566,.,.,.,.,.,.,.,.,.,.,.,613619,.,.,.,.,600286,142360,604202,.,.,.,600574,.,.,.,.,.,.,.,.,.;OMIM_phenotype=.,.,Hyperprolinemia,_type_I,_239500_(3)_AR|(Schizophrenia,_susceptibility_to,_4),_600850_(3)_AD,.,.,.,.,.,.,.,.,.,Combined_D-2-_and_L-2-hydroxyglutaric_aciduria,_615182_(3)_AR|Myasthenic_syndrome,_congenital,_23,_presynaptic,_618197_(3)_AR,.,.,.,.,.,Meier-Gorlin_syndrome_7,_617063_(3)_AR,.,.,.,.,Bernard-Soulier_syndrome,_type_B,_231200_(3)_AR|Giant_platelet_disorder,_isolated,_231200_(3)_AR,Conotruncal_anomaly_face_syndrome,_217095_(3)|DiGeorge_syndrome,_188400_(3)_AD|Tetralogy_of_Fallot,_187500_(3)_AD|Velocardiofacial_syndrome,_192430_(3)_AD,.,.,?Glucocorticoid_deficiency_5,_617825_(3)_AR,(Panic_disorder,_susceptibility_to),_167870_(3)_?AD|(Schizophrenia,_susceptibility_to),_181500_(3)_AD,.,.,Metabolic_encephalomyopathic_crises,_recurrent,_with_rhabdomyolysis,_cardiac_arrhythmias,_and_neurodegeneration,_616878_(3)_AR,.,.,.,.,.,.,.,.,.,.,.,.,(Schizophrenia,_susceptibility_to),_181500_(3)_AD,.,.,.,.,.,.,.,.,.,.,.,Van_den_Ende-Gupta_syndrome,_600920_(3)_AR,.,.,.,.,Gastrointestinal_defects_and_immunodeficiency_syndrome_2,_619708_(3)_AR|Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis,_616531_(3)_AR|Spastic_paraplegia_84,_AR,_619621_(3)_AR,Thrombophilia_10_due_to_heparin_cofactor_II_deficiency,_612356_(3)_AD,Cerebral_dysgenesis,_neuropathy,_ichthyosis,_and_palmoplantar_keratoderma_syndrome,_609528_(3)_AR,.,.,.,Noonan_syndrome_10,_616564_(3)_AD|Noonan_syndrome_2,_605275_(3)_AR|(Schwannomatosis-2,_susceptibility_to),_615670_(3)_AD,.,.,.,.,.,.,.,.,.;OMIM_inheritance=.,.,AD|AR,.,.,.,.,.,.,.,.,.,AR,.,.,.,.,.,AR,.,.,.,.,AR,AD,.,.,AR,?AD|AD,.,.,AR,.,.,.,.,.,.,.,.,.,.,.,.,AD,.,.,.,.,.,.,.,.,.,.,.,AR,.,.,.,.,AR,AD,AR,.,.,.,AD|AR,.,.,.,.,.,.,.,.,.;OMIM_morbid=yes,.,yes,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,yes,yes,.,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,yes,yes,yes,.,.,.,yes,.,.,.,.,.,.,.,.,.;OMIM_morbid_candidate=yes,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,yes,.,.,.,.,.,.,.,.,.;LOEUF_bin=0,9,6,.,.,.,4,.,.,6,9,.,3,5,0,4,9,.,3,1,.,.,.,7,2,5,.,5,8,.,4,4,.,0,.,.,5,.,2,.,1,.,.,.,1,.,7,7,.,.,.,7,.,.,.,4,0,2,0,.,.,2,8,4,3,.,5,9,4,.,.,6,6,.,.,.,.;GnomAD_pLI=1,9.8176e-12,5.3577e-12,.,.,.,5.1573e-06,.,.,0.003861,0.0044347,.,0.058829,2.5101e-37,1,0.052924,1.9976e-05,.,4.6237e-05,0.89512,.,.,.,0.51249,0.83661,4.7419e-05,.,3.4688e-11,1.1377e-06,.,5.0422e-11,0.00014769,.,0.99973,.,.,1.0841e-08,.,0.82235,.,0.85288,.,.,.,0.95882,.,5.0636e-05,0.48065,.,.,.,9.0005e-09,.,.,.,1.5586e-06,0.9998,0.42419,0.99974,.,.,3.1234e-12,2.5137e-10,0.013567,0.44604,.,1.9474e-14,1.0210999999999999e-92,0.013291,.,.,4.468e-09,2.8317e-07,.,.,.,.;ExAC_pLI=1,7.621e-07,4.7536e-06,.,.,.,0.0010959,.,.,0.0041565,0.037186,.,0.63354,1.2408e-26,1,0.020082,3.69e-07,.,0.069104,0.74052,.,.,.,0.10112,0.9834,0.0012635,.,1.0692e-08,0.00084666,.,8.2184e-07,4.2224e-06,.,0.9999,.,.,1.3059e-05,.,0.33622,.,0.98899,.,.,.,0.52644,.,0.12857,.,.,.,.,.,.,.,.,0.00035588,.,0.70261,0.96081,.,.,0.00080407,2.7955e-05,0.15166,0.16345,.,1.9583e-10,3.3832e-52,0.029328,.,.,1.8785e-07,0.00010047,.,.,.,.;AnnotSV_ranking_score=1.9;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2A_(cf_P_loss_source,_+1.00)|3C_(76_genes,_+0.90)|5F_(+0.00);ACMG_class=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5;END=21464119;SVLEN=-2569283 GT 1/. X 53250654 . G . PASS AnnotSV_ID=X_53250654_53856257_DUP_1;SV_start=53250654;Biologist_annotation=HUWE1;Biologist_ranking=Pathogenic;Annotation_mode=full,split,split,split,split,split,split,split,split,split;CytoBand=p11.22;Gene_name=KDM5C|IQSEC2|SMC1A|MIR6857|RIBC1|HSD17B10|HUWE1|MIR98|MIRLET7F2,KDM5C,IQSEC2,SMC1A,MIR6857,RIBC1,HSD17B10,HUWE1,MIR98,MIRLET7F2;Closest_left=MIR6894;Closest_right=PHF8;Gene_count=9;Tx=.,NM_001353979,NM_001111125,NM_006306,NR_106916,NM_001031745,NM_004493,NM_031407,NR_029513,NR_029484;Tx_version=.,2,3,4,1,5,3,7,1,1;Tx_start=.,53205458,53262057,53401069,53432604,53449821,53458208,53559056,53583183,53584152;Tx_end=.,53254389,53350548,53449603,53432697,53458063,53461317,53713664,53583302,53584235;Overlapped_tx_length=.,3736,88491,48534,93,8242,3109,154608,119,83;Overlapped_CDS_length=.,150,4467,3702,0,1140,786,13125,0,0;Overlapped_CDS_percent=.,3,100,100,0,100,100,100,0,0;Frameshift=.,no,no,no,no,no,no,no,no,no;Exon_count=.,26,15,25,1,8,6,84,1,1;Location=.,txStart-intron1,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd,txStart-txEnd;Location2=.,5'UTR-CDS,5'UTR-3'UTR,5'UTR-3'UTR,UTR,5'UTR-3'UTR,5'UTR-3'UTR,5'UTR-3'UTR,UTR,UTR;Dist_nearest_SS=.,555,.,.,.,.,.,.,.,.;Nearest_SS_type=.,3',.,.,.,.,.,.,.,.;Intersect_start=.,53250653,53262057,53401069,53432604,53449821,53458208,53559056,53583183,53584152;Intersect_end=.,53254389,53350548,53449603,53432697,53458063,53461317,53713664,53583302,53584235;RE_gene=ACADM_(morbid/RE=mTL_miRNA)|ACTA1_(morbid/RE=mTL_miRNA)|ACVR2B_(morbid/RE=mTL_miRNA)|ADA_(morbid/RE=mTL_miRNA)|ADGRE2_(morbid/RE=mTL_miRNA)|ADGRG1_(morbid/RE=mTL_miRNA)|ADH5_(morbid/RE=mTL_miRNA)|AGO1_(morbid/RE=mTL_miRNA)|AGPS_(morbid/RE=mTL_miRNA)|AK2_(morbid/RE=mTL_miRNA)|ALAS2_(morbid/RE=ABC_enhancer)|ALDH1A3_(morbid/RE=mTL_miRNA)|ALDH7A1_(morbid/RE=mTL_miRNA)|ALG3_(morbid/RE=mTL_miRNA)|ALG8_(morbid/RE=mTL_miRNA)|AMD1_(morbid/RE=mTL_miRNA)|AMMECR1_(morbid/RE=mTL_miRNA)|ANKRD11_(HI=3/morbid/RE=mTL_miRNA)|ANTXR2_(morbid/RE=mTL_miRNA)|AP1S1_(morbid/RE=mTL_miRNA)|ARCN1_(HI=3/morbid/RE=mTL_miRNA)|ARHGEF18_(morbid/RE=mTL_miRNA)|ARID1A_(HI=3/morbid/RE=mTL_miRNA)|ARID1B_(HI=3/morbid/RE=mTL_miRNA)|ATL1_(morbid/RE=mTL_miRNA)|ATP13A3_(morbid/RE=mTL_miRNA)|ATP2A2_(morbid/RE=mTL_miRNA)|ATP7B_(morbid/RE=mTL_miRNA)|ATR_(morbid/RE=mTL_miRNA)|ATXN2_(morbid/RE=mTL_miRNA)|B4GAT1_(morbid/RE=mTL_miRNA)|BACH1_(morbid/RE=mTL_miRNA)|BCL11A_(HI=3/morbid/RE=mTL_miRNA)|BCL2_(morbid/RE=mTL_miRNA)|BCOR_(HI=3/morbid/RE=mTL_miRNA)|BNC2_(morbid/RE=mTL_miRNA)|C12orf4_(morbid/RE=mTL_miRNA)|C3_(morbid/RE=mTL_miRNA)|CACNA1C_(morbid/RE=mTL_miRNA)|CACNB2_(morbid/RE=mTL_miRNA)|CALM1_(morbid/RE=mTL_miRNA)|CANT1_(morbid/RE=mTL_miRNA)|CAPN15_(morbid/RE=mTL_miRNA)|CBL_(morbid/RE=mTL_miRNA)|CCND2_(morbid/RE=mTL_miRNA)|CCNF_(morbid/RE=mTL_miRNA)|CD59_(morbid/RE=mTL_miRNA)|CDKN1B_(HI=3/morbid/RE=mTL_miRNA)|CEP120_(morbid/RE=mTL_miRNA)|CEP135_(morbid/RE=mTL_miRNA)...;P_gain_phen=Xp11.22_region_(includes_HUWE1);P_gain_source=TS3:ISCA-46299|dbVar:nssv15147941|dbVar:nssv15147942|dbVar:nssv15161312|nssv15161529|dbVar:nssv15161768,.,dbVar:nssv15147941|dbVar:nssv15147942,.,.,.,.,dbVar:nssv15161768,.,.;P_gain_coord=X:53276031-53298472|X:53283514-53325284|X:53363457-53793054|X:53559549-53622547|X:53559733-53790650,.,X:53276031-53298472|X:53283514-53325284,.,.,.,.,X:53559549-53622547,.,.;P_loss_phen=Cornelia_de_Lange_syndrome_2,_300590_(3)_XLD|Developmental_and_epileptic_encephalopathy_85,_with_or_without_midline_brain_defects,_301044_(3)_XLD|HSD10_mitochondrial_disease,_300438_(3)_XLD|Intellectual_developmental_disorder,_XL_1,_309530_(3)_XLD|Intellectual_developmental_disorder,_XL_syndromic,_Turner_type,_309590_(3)_XL|Intellectual_disability,_X-linked_1,.,Intellectual_developmental_disorder,_XL_1,_309530_(3)_XLD|Intellectual_disability,_X-linked_1,.,.,.,HSD10_mitochondrial_disease,_300438_(3)_XLD,Intellectual_developmental_disorder,_XL_syndromic,_Turner_type,_309590_(3)_XL,.,.;P_loss_source=CLN:1065452|HI3:IQSEC2|HI3:SMC1A|dbVar:nssv15769470|dbVar:nssv16212358|dbVar:nssv16215156|dbVar:nssv17171530|dbVar:nssv17171900|dbVar:nssv17172048|dbVar:nssv17172462|dbVar:nssv17970926|dbVar:nssv17971164|dbVar:nssv18788536|dbVar:nssv18791522|morbid:HSD17B10|morbid:HUWE1|morbid:IQSEC2|morbid:SMC1A,dbVar:nssv16215156,CLN:1065452|HI3:IQSEC2|dbVar:nssv17171900|dbVar:nssv17172048|dbVar:nssv17172462|dbVar:nssv17970926|dbVar:nssv18791522|morbid:IQSEC2,dbVar:nssv15769470|dbVar:nssv16212358|dbVar:nssv17171530|dbVar:nssv17971164|dbVar:nssv18788536,.,.,morbid:HSD17B10,morbid:HUWE1,.,.;P_loss_coord=X:53253923-53254071|X:53262059-53350522|X:53263402-53280376|X:53264077-53264258|X:53264078-53264257|X:53270947-53271111|X:53279442-53280376|X:53295510-53310766|X:53348888-53349736|X:53401070-53449677|X:53401071-53449677|X:53430479-53432101|X:53430479-53442138|X:53435974-53442138|X:53448826-53449569|X:53449432-53449549|X:53458209-53461317|X:53559057-53713664,X:53253923-53254071,X:53262059-53350522|X:53263402-53280376|X:53264077-53264258|X:53264078-53264257|X:53270947-53271111|X:53279442-53280376|X:53295510-53310766|X:53348888-53349736,X:53430479-53432101|X:53430479-53442138|X:53435974-53442138|X:53448826-53449569|X:53449432-53449549,.,.,X:53458209-53461317,X:53559057-53713664,.,.;P_snvindel_nb=233,5,123,90,.,.,4,11,.,.;P_snvindel_phen=Abnormal_heart_valve_morphology|Congenital_muscular_hypertrophy-cerebral_syndrome|Cornelia_de_Lange_syndrome_1|Developmental_and_epileptic_encephalopathy,_85,_with_or_without_midline_brain_defects|Epileptic_encephalopathy|Global_developmental_delay|HSD10_mitochondrial_disease|Hirsutism|Hypertonia|Inborn_genetic_diseases|Intellectual_disability|Intellectual_disability,_X-linked_1|Intellectual_disability,_X-linked_syndromic,_Turner_type|Microcephaly|Neurodevelopmental_delay|Paraplegia-intellectual_disability-hyperkeratosis_syndrome|Progressive_sensorineural_hearing_impairment|SMC1A-related_cohesinopathy|See_cases|Severe_intellectual_deficiency|Syndromic_X-linked_intellectual_disability_Claes-Jensen_type|Undetermined_early-onset_epileptic_encephalopathy,Inborn_genetic_diseases|Syndromic_X-linked_intellectual_disability_Claes-Jensen_type,Inborn_genetic_diseases|Intellectual_disability|Intellectual_disability,_X-linked_1|Neurodevelopmental_delay|Paraplegia-intellectual_disability-hyperkeratosis_syndrome|See_cases|Severe_intellectual_deficiency|Undetermined_early-onset_epileptic_encephalopathy,Abnormal_heart_valve_morphology|Congenital_muscular_hypertrophy-cerebral_syndrome|Cornelia_de_Lange_syndrome_1|Developmental_and_epileptic_encephalopathy,_85,_with_or_without_midline_brain_defects|Epileptic_encephalopathy|Global_developmental_delay|Hirsutism|Hypertonia|Inborn_genetic_diseases|Intellectual_disability|Microcephaly|Progressive_sensorineural_hearing_impairment|SMC1A-related_cohesinopathy|See_cases,.,.,HSD10_mitochondrial_disease|Inborn_genetic_diseases|Neurodevelopmental_delay,Global_developmental_delay|Inborn_genetic_diseases|Intellectual_disability|Intellectual_disability,_X-linked_syndromic,_Turner_type|Neurodevelopmental_delay,.,.;B_gain_source=.,.,.,.,.,.,.,.,dbVar,dbVar;B_gain_coord=.,.,.,.,.,.,.,.,chrX:53552999-53623500,chrX:53552999-53623500;B_gain_AFmax=.,.,.,.,.,.,.,.,0.01,0.01;B_inv_source=IMH;B_inv_coord=X:46769178-84009828;B_inv_AFmax=0.128;po_B_gain_someG_source=chrX:53351112-53351177_dbVar|chrX:53471700-53477100_dbVar|chrX:53592722-53593564_dbVar|chrX:53727000-53788500_dbVar|chrX:53787836-53829639_dbVar|chrX:53803200-53918400_dbVar|;po_B_gain_someG_coord=chrX:53332800-53414100_dbVar|chrX:53470041-53488385_dbVar|chrX:53552999-53623500_dbVar|chrX:53666546-53667044_dbVar|chrX:53775999-53852000_dbVar|chrX:53800000-53808000_dbVar|chrX:53820721-53862221_dbVar;po_B_loss_someG_source=chrX:53318184-53318333_dbVar|chrX:53319071-53320350_dbVar|chrX:53414007-53419436_dbVar|chrX:53475340-53498420_dbVar|X:53478094-53491686_1000g|X:53478191-53491588_IMH|X:53478192-53491585_gnomAD-SV_v2.1_DEL_X_186301|chrX:53481193-53482847_dbVar|chrX:53485000-53555000_dbVar|X:53496417-53499888_1000g|chrX:53504537-53504627_dbVar|chrX:53513549-53520809_dbVar|chrX:53520678-53520750_dbVar|chrX:53561861-53562148_dbVar|chrX:53684764-53684885_dbVar|X:53772345-53778301_1000g|X:53772358-53778316_IMH|chrX:53776500-53781600_dbVar|chrX:53781934-53808203_dbVar|X:53792164-53792218_1000g...;po_B_loss_someG_coord=chrX:53256067-53256435_dbVar|chrX:53318309-53320696_dbVar|X:53319072-53320350_1000g|chrX:53437409-53437467_dbVar|chrX:53478093-53491686_dbVar|X:53478160-53491616_DDD:57601|chrX:53478192-53491585_dbVar|chrX:53478817-53479165_dbVar|X:53481194-53482847_1000g|chrX:53496416-53499888_dbVar|chrX:53496418-53499890_dbVar|chrX:53513441-53520776_dbVar|chrX:53513576-53513640_dbVar|chrX:53557344-53558918_dbVar|chrX:53680158-53680957_dbVar|chrX:53772344-53778301_dbVar|X:53772358-53778316_DDD:57606|chrX:53774645-53775785_dbVar|X:53776864-53777371_nsv515204|chrX:53787125-53795624_dbVar...;GC_content_left=0.42;GC_content_right=0.295;Repeat_coord_left=X:53250479-53250649;Repeat_type_left=MIRc;Repeat_coord_right=X:53855851-53856180|X:53856303-53856465;Repeat_type_right=L1MA7|L1MA7;HI=3,3,3,3,.,.,0,0,.,.;TS=.,0,0,0,.,.,0,0,.,.;DDD_HI_percent=75.6,11.71,26.16,14.23,.,75.6,21.63,10.58,.,.;ExAC_synZ=0.807946261414963,-1.20041549946446,-0.257046228208263,-0.112682658348456,.,0.80408198011521,0.807946261414963,-1.65771922174252,.,.;ExAC_misZ=9.03470791370173,5.44441583895939,4.55717824142058,6.67845368195785,.,0.293719819544616,2.17074250392365,9.03470791370173,.,.;GenCC_disease=.,X-linked_syndromic_intellectual_disability|syndromic_X-linked_intellectual_disability_Claes-Jensen_type,X-linked_complex_neurodevelopmental_disorder|intellectual_disability,_X-linked_1|non-syndromic_X-linked_intellectual_disability|severe_intellectual_disability-progressive_postnatal_microcephaly-_midline_stereotypic_hand_movements_syndrome,Cornelia_de_Lange_syndrome|Cornelia_de_Lange_syndrome_2|X-linked_complex_neurodevelopmental_disorder|atypical_Rett_syndrome|developmental_and_epileptic_encephalopathy,_85,_with_or_without_midline_brain_defects,.,.,HSD10_disease,_infantile_type|HSD10_disease,_neonatal_type|HSD10_mitochondrial_disease|syndromic_X-linked_intellectual_disability_type_10,intellectual_disability,_X-linked_syndromic,_Turner_type|non-syndromic_X-linked_intellectual_disability|syndromic_intellectual_disability,.,.;GenCC_moi=.,XL|XLR,XL|XLD,AD|XL|XLD,.,.,XL|XLR,AD|XL|XLD,.,.;GenCC_classification=.,Definitive|Strong|Supportive,Definitive|Strong|Supportive,Definitive|Strong|Supportive,.,.,Definitive|Strong|Supportive,Definitive|Strong|Supportive,.,.;GenCC_pmid=.,10982473|15586325|15586325[PMID]|16538222|18203167|18697827|19826449|21575681|22326837|25666439|32279304,20473311|20473311[PMID]|21686261|23674175|23674175[PMID]|24306141|25167861|26544041|26733290|26793055|27665735|28295038|28815955|29026562|300522|30206421|30666632|31415821|31490346|31829726,16604071|17273969|20301283[PMID]|20635401|22106055|24124034|26354354|26358754|26386245|27334371|28102598|28166369|28548707|31334757|32222533[PMID],.,.,10521307|12555940|12696021|16148061|22127393|22127393[PMID],18252223|19377476|1968668|20231446|22840365|23721686|24303071|25644381|25985138|27418510|27615324|29180823|29180823[PMID],.,.;NCBI_gene_ID=.,8242,23096,8243,102465516,158787,3028,10075,407054,406889;OMIM_ID=314690|300522|300040|300256|300697,314690,300522,300040,.,.,300256,300697,.,.;OMIM_phenotype=.,Intellectual_developmental_disorder,_XL_syndromic,_Claes-Jensen_type,_300534_(3)_XLR,Intellectual_developmental_disorder,_XL_1,_309530_(3)_XLD,Cornelia_de_Lange_syndrome_2,_300590_(3)_XLD|Developmental_and_epileptic_encephalopathy_85,_with_or_without_midline_brain_defects,_301044_(3)_XLD,.,.,HSD10_mitochondrial_disease,_300438_(3)_XLD,Intellectual_developmental_disorder,_XL_syndromic,_Turner_type,_309590_(3)_XL,.,.;OMIM_inheritance=.,XLR,XLD,XLD,.,.,XLD,XL,.,.;OMIM_morbid=yes,yes,yes,yes,.,.,yes,yes,.,.;LOEUF_bin=0,0,0,0,.,1,1,0,.,.;GnomAD_pLI=1,1,0.99998,1,.,0.983,0.93604,1,.,.;ExAC_pLI=1,0.99784,0.97539,0.99999,.,0.96626,0.88687,1,.,.;AnnotSV_ranking_score=1;AnnotSV_ranking_criteria=1A_(cf_Gene_count,_RE_gene,_+0.00)|2A_(cf_P_gain_source,_+1.00)|2H-2_(HSD17B10/HUWE1/IQSEC2/SMC1A,_+0.00)|2J_(KDM5C,_+0.00)|3A_(9_genes,_+0.00)|5F_(+0.00);ACMG_class=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5,full=5;END=53856257;SVLEN=605603 GT 1/. diff --git a/share/tcl/AnnotSV/AnnotSV-benignsv.tcl b/share/tcl/AnnotSV/AnnotSV-benignsv.tcl index 5448548..ad2572a 100644 --- a/share/tcl/AnnotSV/AnnotSV-benignsv.tcl +++ b/share/tcl/AnnotSV/AnnotSV-benignsv.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-candidategenes.tcl b/share/tcl/AnnotSV/AnnotSV-candidategenes.tcl index 06ed5ee..921664e 100644 --- a/share/tcl/AnnotSV/AnnotSV-candidategenes.tcl +++ b/share/tcl/AnnotSV/AnnotSV-candidategenes.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-clingen.tcl b/share/tcl/AnnotSV/AnnotSV-clingen.tcl index d215ca5..f3bb101 100644 --- a/share/tcl/AnnotSV/AnnotSV-clingen.tcl +++ b/share/tcl/AnnotSV/AnnotSV-clingen.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-closestgenes.tcl b/share/tcl/AnnotSV/AnnotSV-closestgenes.tcl index bf0f941..6d55122 100644 --- a/share/tcl/AnnotSV/AnnotSV-closestgenes.tcl +++ b/share/tcl/AnnotSV/AnnotSV-closestgenes.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-config.tcl b/share/tcl/AnnotSV/AnnotSV-config.tcl index 3212679..f4f2d5c 100644 --- a/share/tcl/AnnotSV/AnnotSV-config.tcl +++ b/share/tcl/AnnotSV/AnnotSV-config.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-cosmic.tcl b/share/tcl/AnnotSV/AnnotSV-cosmic.tcl index d0e3c20..f7f11a3 100644 --- a/share/tcl/AnnotSV/AnnotSV-cosmic.tcl +++ b/share/tcl/AnnotSV/AnnotSV-cosmic.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-cytoband.tcl b/share/tcl/AnnotSV/AnnotSV-cytoband.tcl index 513c737..db4af5f 100644 --- a/share/tcl/AnnotSV/AnnotSV-cytoband.tcl +++ b/share/tcl/AnnotSV/AnnotSV-cytoband.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-encodeblacklist.tcl b/share/tcl/AnnotSV/AnnotSV-encodeblacklist.tcl index d9b6630..8d77988 100644 --- a/share/tcl/AnnotSV/AnnotSV-encodeblacklist.tcl +++ b/share/tcl/AnnotSV/AnnotSV-encodeblacklist.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-exac.tcl b/share/tcl/AnnotSV/AnnotSV-exac.tcl index dbc0a25..d3d5a4c 100644 --- a/share/tcl/AnnotSV/AnnotSV-exac.tcl +++ b/share/tcl/AnnotSV/AnnotSV-exac.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-exomiser.tcl b/share/tcl/AnnotSV/AnnotSV-exomiser.tcl index 08f5539..0bf1757 100644 --- a/share/tcl/AnnotSV/AnnotSV-exomiser.tcl +++ b/share/tcl/AnnotSV/AnnotSV-exomiser.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-extann.tcl b/share/tcl/AnnotSV/AnnotSV-extann.tcl index 6f449a4..8c537fe 100644 --- a/share/tcl/AnnotSV/AnnotSV-extann.tcl +++ b/share/tcl/AnnotSV/AnnotSV-extann.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-filteredVCF.tcl b/share/tcl/AnnotSV/AnnotSV-filteredVCF.tcl index fa1352d..a548a16 100644 --- a/share/tcl/AnnotSV/AnnotSV-filteredVCF.tcl +++ b/share/tcl/AnnotSV/AnnotSV-filteredVCF.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-gap.tcl b/share/tcl/AnnotSV/AnnotSV-gap.tcl index e51f788..aad63c3 100644 --- a/share/tcl/AnnotSV/AnnotSV-gap.tcl +++ b/share/tcl/AnnotSV/AnnotSV-gap.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-gccontent.tcl b/share/tcl/AnnotSV/AnnotSV-gccontent.tcl index d8acdaf..94b8f41 100644 --- a/share/tcl/AnnotSV/AnnotSV-gccontent.tcl +++ b/share/tcl/AnnotSV/AnnotSV-gccontent.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-gencc.tcl b/share/tcl/AnnotSV/AnnotSV-gencc.tcl index bc974a7..6562c44 100644 --- a/share/tcl/AnnotSV/AnnotSV-gencc.tcl +++ b/share/tcl/AnnotSV/AnnotSV-gencc.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-general.tcl b/share/tcl/AnnotSV/AnnotSV-general.tcl index 971727e..e921660 100644 --- a/share/tcl/AnnotSV/AnnotSV-general.tcl +++ b/share/tcl/AnnotSV/AnnotSV-general.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-genes.tcl b/share/tcl/AnnotSV/AnnotSV-genes.tcl index b871589..7395aee 100644 --- a/share/tcl/AnnotSV/AnnotSV-genes.tcl +++ b/share/tcl/AnnotSV/AnnotSV-genes.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-haploinsufficiency.tcl b/share/tcl/AnnotSV/AnnotSV-haploinsufficiency.tcl index 9c65dab..e92700c 100644 --- a/share/tcl/AnnotSV/AnnotSV-haploinsufficiency.tcl +++ b/share/tcl/AnnotSV/AnnotSV-haploinsufficiency.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-help.tcl b/share/tcl/AnnotSV/AnnotSV-help.tcl index 7f4081e..a09a52a 100644 --- a/share/tcl/AnnotSV/AnnotSV-help.tcl +++ b/share/tcl/AnnotSV/AnnotSV-help.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-loeuf-pLI.tcl b/share/tcl/AnnotSV/AnnotSV-loeuf-pLI.tcl index 8308bf4..36edf7b 100644 --- a/share/tcl/AnnotSV/AnnotSV-loeuf-pLI.tcl +++ b/share/tcl/AnnotSV/AnnotSV-loeuf-pLI.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-ncbi.tcl b/share/tcl/AnnotSV/AnnotSV-ncbi.tcl index 658bdf5..2bded19 100644 --- a/share/tcl/AnnotSV/AnnotSV-ncbi.tcl +++ b/share/tcl/AnnotSV/AnnotSV-ncbi.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-omim.tcl b/share/tcl/AnnotSV/AnnotSV-omim.tcl index 547e59a..a804c79 100644 --- a/share/tcl/AnnotSV/AnnotSV-omim.tcl +++ b/share/tcl/AnnotSV/AnnotSV-omim.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-pathogenicsnvindel.tcl b/share/tcl/AnnotSV/AnnotSV-pathogenicsnvindel.tcl index f05a952..8aac1cd 100644 --- a/share/tcl/AnnotSV/AnnotSV-pathogenicsnvindel.tcl +++ b/share/tcl/AnnotSV/AnnotSV-pathogenicsnvindel.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-pathogenicsv.tcl b/share/tcl/AnnotSV/AnnotSV-pathogenicsv.tcl index ce477c7..6baea14 100644 --- a/share/tcl/AnnotSV/AnnotSV-pathogenicsv.tcl +++ b/share/tcl/AnnotSV/AnnotSV-pathogenicsv.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-phenogenius.tcl b/share/tcl/AnnotSV/AnnotSV-phenogenius.tcl index 42f60c8..9e40f32 100644 --- a/share/tcl/AnnotSV/AnnotSV-phenogenius.tcl +++ b/share/tcl/AnnotSV/AnnotSV-phenogenius.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-ranking.tcl b/share/tcl/AnnotSV/AnnotSV-ranking.tcl index 1f67236..f9b448b 100644 --- a/share/tcl/AnnotSV/AnnotSV-ranking.tcl +++ b/share/tcl/AnnotSV/AnnotSV-ranking.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-regulatoryelements.tcl b/share/tcl/AnnotSV/AnnotSV-regulatoryelements.tcl index 3f333a9..786bde6 100644 --- a/share/tcl/AnnotSV/AnnotSV-regulatoryelements.tcl +++ b/share/tcl/AnnotSV/AnnotSV-regulatoryelements.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-repeat.tcl b/share/tcl/AnnotSV/AnnotSV-repeat.tcl index e8816cc..b537100 100644 --- a/share/tcl/AnnotSV/AnnotSV-repeat.tcl +++ b/share/tcl/AnnotSV/AnnotSV-repeat.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-segdup.tcl b/share/tcl/AnnotSV/AnnotSV-segdup.tcl index 765cdc8..f5df596 100644 --- a/share/tcl/AnnotSV/AnnotSV-segdup.tcl +++ b/share/tcl/AnnotSV/AnnotSV-segdup.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-tad.tcl b/share/tcl/AnnotSV/AnnotSV-tad.tcl index 8665673..5f4cfb6 100644 --- a/share/tcl/AnnotSV/AnnotSV-tad.tcl +++ b/share/tcl/AnnotSV/AnnotSV-tad.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-userBED.tcl b/share/tcl/AnnotSV/AnnotSV-userBED.tcl index ab9aa61..8315382 100644 --- a/share/tcl/AnnotSV/AnnotSV-userBED.tcl +++ b/share/tcl/AnnotSV/AnnotSV-userBED.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-variantconvert.tcl b/share/tcl/AnnotSV/AnnotSV-variantconvert.tcl index 168716e..d75bea2 100644 --- a/share/tcl/AnnotSV/AnnotSV-variantconvert.tcl +++ b/share/tcl/AnnotSV/AnnotSV-variantconvert.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # @@ -144,8 +144,7 @@ proc runVariantconvert {outputFile} { } puts "...creation of the VCF output file: $VCFoutputFile" - puts " AnnotSV relies on the variantconvert tool ${version}(https://github.com/SamuelNicaise/variantconvert)." - puts " A minimal Python 3.8 installation is required, as well as the natsort, panda and pyfaidx Python modules." + puts " AnnotSV relies on the variantconvert tool ${version}(https://github.com/SamuelNicaise/variantconvert)" regsub "\.vcf$" $VCFoutputFile ".variantconvert.log" LogFile @@ -198,11 +197,12 @@ proc runVariantconvert {outputFile} { catch {eval exec $command} Message regsub -all "FutureWarning: Setting an item of incompatible dtype is deprecated and will raise in a future error" $Message "..." MessageReg if {[regexp -nocase "error" $MessageReg]} { + puts " (a minimal Python 3.8 installation is required, as well as the natsort, panda and pyfaidx Python modules)" puts "Error:" + puts " => cf $LogFile" } ReplaceTextInFile "$command\n\n$Message" $LogFile - puts " => cf $LogFile" - + return } diff --git a/share/tcl/AnnotSV/AnnotSV-vcf.tcl b/share/tcl/AnnotSV/AnnotSV-vcf.tcl index 636f9be..6abc851 100644 --- a/share/tcl/AnnotSV/AnnotSV-vcf.tcl +++ b/share/tcl/AnnotSV/AnnotSV-vcf.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # diff --git a/share/tcl/AnnotSV/AnnotSV-write.tcl b/share/tcl/AnnotSV/AnnotSV-write.tcl index 53681af..ff901bf 100644 --- a/share/tcl/AnnotSV/AnnotSV-write.tcl +++ b/share/tcl/AnnotSV/AnnotSV-write.tcl @@ -1,5 +1,5 @@ ############################################################################################################ -# AnnotSV 3.4.3 # +# AnnotSV 3.4.4 # # # # AnnotSV: An integrated tool for Structural Variations annotation and ranking # # # @@ -1515,7 +1515,11 @@ proc OrganizeAnnotation {} { } if {$doNotDisplay} {continue} } - + + # 05/09/2024 - Temporary fix for the issue #250 (bad GenCC file) + # (To remove after annotation update) + regsub -all "\t\"\t" $lineCompleted "\t\t" lineCompleted + lappend L_lineCompleted [switchAllCoordinatesFromBEDtoVCFinLine "$lineCompleted"] # To avoid a segmentation fault diff --git a/tests/AnnotSV/test_24_HtzCompound/command_Tcl.sh b/tests/AnnotSV/test_24_HtzCompound/command_Tcl.sh index d0ef886..938c10c 100755 --- a/tests/AnnotSV/test_24_HtzCompound/command_Tcl.sh +++ b/tests/AnnotSV/test_24_HtzCompound/command_Tcl.sh @@ -7,12 +7,12 @@ cut="$ANNOTSV/tests/AnnotSV/scripts/cutWithColumnNames.tcl" -############################################################### -## Understanding the data used for TESTING -############################################################### +###################################################################### +## First, we need to understand the data that will be used for TESTING +###################################################################### -# In "./input/test1.SV.vcf", ther is only 1 SV (identified in sample-002 but not in sample-001) +# In "./input/test1.SV.vcf", there is only 1 SV (identified in sample-002 but not in sample-001) ################################################################################################################ # CHROM POS ID REF ALT QUAL FILTER INFO FORMAT sample-001 sample-002