Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DMXL1_chr5_119066087_119254127	119173774	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA20129.hp1 HG01891.hp2 NA20129.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0012 a0001c0001 a0007c0012	a0001c0001t0001 a0007c0012t0001 a0001c0001t0001 a0007c0012t0001	a0001c0001t0001g0141 a0007c0012t0001g0042 a0001c0001t0001g0141 a0007c0012t0001g0042	2	238	0.0084	30	c.668 others(49): Show c.6682-1486_6682-1485insATATATATATATATATATATATATAT ATAT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119173776	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG01261.hp1 others(4): Show HG00544.hp2 HG00609.hp2 HG01261.hp1 HG01993.hp1 HG03491.hp2 NA18950.hp1 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0002c0003t0006 a0001c0002t0001 a0002c0003t0001 a0002c0003t0006	a0001c0002t0001g0094 a0001c0002t0001g0106 a0001c0002t0001g0116 others(4): Show a0001c0002t0001g0094 a0001c0002t0001g0106 a0001c0002t0001g0116 a0002c0003t0001g0063 a0002c0003t0001g0066 a0002c0003t0001g0086 a0002c0003t0006g0074	7	238	0.0294	30	c.668 others(49): Show c.6682-1463_6682-1462insTATATATATATATATATATATATATA TATA	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119173776	G G	GTATGTAT others(23): Show GTATGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0128 a0001c0002t0001g0128	1	238	0.0042	30	c.668 others(49): Show c.6682-1482_6682-1481insGTATATATATATATATATATATATAT ATAT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119173776	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03486.hp2 HG04199.hp1 HG03139.hp1 HG03486.hp2 HG04199.hp1	a0001 a0005 a0021 a0001 a0005 a0021	a0001c0002 a0005c0014 a0021c0046 a0001c0002 a0005c0014 a0021c0046	a0001c0002t0001 a0005c0014t0005 a0021c0046t0010 a0001c0002t0001 a0005c0014t0005 a0021c0046t0010	a0001c0002t0001g0131 a0005c0014t0005g0038 a0021c0046t0010g0118 a0001c0002t0001g0131 a0005c0014t0005g0038 a0021c0046t0010g0118	3	238	0.0126	30	c.668 others(49): Show c.6682-1484_6682-1483insGTATATATATATATATATATATATAT ATAT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL2_chr15_51442791_51627771	51502306	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18975.hp2 NA18977.hp1 others(1): Show HG02922.hp2 NA18975.hp2 NA18977.hp1 NA19006.hp2	a0004 a0013 a0004 a0013	a0004c0005 a0013c0034 a0004c0005 a0013c0034	a0004c0005t0001 a0013c0034t0007 a0004c0005t0001 a0013c0034t0007	a0004c0005t0001g0322 a0004c0005t0001g0324 a0004c0005t0001g0328 others(1): Show a0004c0005t0001g0322 a0004c0005t0001g0324 a0004c0005t0001g0328 a0013c0034t0007g0211	4	346	0.0116	30	c.299 others(47): Show c.2992+470_2992+499dupCACACACACACACACACACACACACACA CA	DMXL2	ENSG00000104093.14	transcript	ENST00000560891.6	protein_coding	17/43			chr15	TogoVar
DNAAF11_chr8_132565416_132680545	132674147	A A	AGAGAAGG others(23): Show AGAGAAGGAGGAGAAGGAGGAGGAGGAGAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp1 HG01069.hp2 others(8): Show HG00099.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01255.hp2 HG01516.hp2 HG01517.hp1 HG02602.hp1 HG02896.hp1 HG03669.hp2 HG03834.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0016 a0003c0003t0002g0017 a0003c0003t0002g0018 others(8): Show a0003c0003t0002g0016 a0003c0003t0002g0017 a0003c0003t0002g0018 a0003c0003t0002g0019 a0003c0003t0002g0020 a0003c0003t0002g0021 a0003c0003t0002g0022 a0003c0003t0002g0023 a0003c0003t0002g0034 a0003c0003t0002g0076 a0003c0003t0002g0077	11	276	0.0399	30	c.10+ others(45): Show c.10+1336_10+1337insCTTCTCCTCCTCCTCCTTCTCCTCCTTCTC	DNAAF11	ENSG00000129295.10	transcript	ENST00000620350.5	protein_coding	1/11			chr8	TogoVar
DNAAF11_chr8_132565416_132680545	132674151	G G	GAGGAGGA others(23): Show GAGGAGGAGGAGGAGGAAGAGAAGGAGGAGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0010	a0002c0004t0010g0014 a0002c0004t0010g0014	1	276	0.0036	30	c.10+ others(45): Show c.10+1332_10+1333insTCTCCTCCTTCTCTTCCTCCTCCTCCTCCT	DNAAF11	ENSG00000129295.10	transcript	ENST00000620350.5	protein_coding	1/11			chr8	TogoVar
DNAAF1_chr16_84140308_84182918	84148596	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03471.hp2 NA19240.hp1 HG03209.hp1 HG03471.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0161 a0001c0001t0002g0010 a0001c0001t0002g0161	3	456	0.0066	30	c.125 others(45): Show c.125-393_125-392insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF3_chr19_55153665_55171613	55168406	T T	TATATATA others(23): Show TATATATATATAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0158 a0002c0003t0001g0158	1	398	0.0025	30	c.-18 others(41): Show c.-1889_-1888insCTCTCTCTCTCTCTCTCTCTATATATATAT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		1794		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55168406	T T	TATATATA others(23): Show TATATATATATATAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0157 a0002c0003t0001g0157	1	398	0.0025	30	c.-18 others(41): Show c.-1889_-1888insCTCTCTCTCTCTCTCTCTATATATATATAT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		1794		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55168406	T T	TATATATA others(23): Show TATATATATATATATATATATATATAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0156 a0001c0004t0001g0156	1	398	0.0025	30	c.-18 others(41): Show c.-1889_-1888insCTCTCTATATATATATATATATATATATAT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		1794		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55168406	T T	TATATATA others(23): Show TATATATATATATATATATATATATGGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02897.hp2 HG02451.hp1 HG02897.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0049 a0002c0003t0001g0105 a0002c0003t0001g0049 a0002c0003t0001g0105	2	398	0.0050	30	c.-18 others(41): Show c.-1889_-1888insCTCTCCATATATATATATATATATATATAT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		1794		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55170850	T T	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00642.hp2 HG00733.hp2 others(2): Show HG00408.hp2 HG00642.hp2 HG00733.hp2 HG01358.hp1 HG01975.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0002 a0003c0002t0001g0080 a0003c0002t0001g0002 a0003c0002t0001g0080	5	398	0.0126	30	c.-43 others(41): Show c.-4333_-4332insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4238		chr19	TogoVar
DNAH10_chr12_123757301_123940714	123782329	G G	GCCTCCCC others(23): Show GCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp1 NA18522.hp2 others(1): Show HG01243.hp1 HG02572.hp1 NA18522.hp2 NA19030.hp2	a0020 a0055 a0070 a0020 a0055 a0070	a0020c0022 a0055c0071 a0070c0086 a0020c0022 a0055c0071 a0070c0086	a0020c0022t0001 a0055c0071t0001 a0070c0086t0002 a0020c0022t0001 a0055c0071t0001 a0070c0086t0002	a0020c0022t0001g0120 a0020c0022t0001g0121 a0055c0071t0001g0129 others(1): Show a0020c0022t0001g0120 a0020c0022t0001g0121 a0055c0071t0001g0129 a0070c0086t0002g0156	4	170	0.0235	30	c.842 others(45): Show c.842-750_842-749insCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	6/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123911285	A A	ATCTGTCC others(23): Show ATCTGTCCTGGGGGGTCTGTCCTGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00741.hp2 HG01168.hp1 others(24): Show HG00544.hp1 HG00741.hp2 HG01168.hp1 HG01169.hp1 HG01433.hp2 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02027.hp1 HG02630.hp2 HG02717.hp2 HG03688.hp2 HG03710.hp1 HG03927.hp2 HG04184.hp1 NA18906.hp1 NA18944.hp1 NA18944.hp2 NA18950.hp1 NA18960.hp1 NA18964.hp1 NA18977.hp2 NA18979.hp2 NA20905.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0032 a0035 a0038 a0050 a0073	a0001c0001 a0001c0002 a0001c0041 others(13): Show a0001c0001 a0001c0002 a0001c0041 a0001c0058 a0001c0067 a0002c0011 a0002c0029 a0003c0019 a0004c0050 a0006c0026 a0006c0027 a0032c0039 a0035c0055 a0038c0069 a0050c0056 a0073c0034	a0001c0001t0001 a0001c0002t0002 a0001c0041t0001 others(13): Show a0001c0001t0001 a0001c0002t0002 a0001c0041t0001 a0001c0058t0001 a0001c0067t0001 a0002c0011t0001 a0002c0029t0001 a0003c0019t0002 a0004c0050t0001 a0006c0026t0002 a0006c0027t0001 a0032c0039t0001 a0035c0055t0002 a0038c0069t0001 a0050c0056t0001 a0073c0034t0001	a0001c0001t0001g0020 a0001c0001t0001g0058 a0001c0001t0001g0064 others(24): Show a0001c0001t0001g0020 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0089 a0001c0001t0001g0099 a0001c0001t0001g0114 a0001c0002t0002g0072 a0001c0002t0002g0096 a0001c0002t0002g0107 a0001c0002t0002g0113 a0001c0002t0002g0161 a0001c0041t0001g0159 a0001c0058t0001g0033 a0001c0067t0001g0082 a0002c0011t0001g0086 a0002c0029t0001g0131 a0002c0029t0001g0142 a0003c0019t0002g0093 a0004c0050t0001g0136 a0006c0026t0002g0079 a0006c0026t0002g0081 a0006c0027t0001g0115 a0032c0039t0001g0018 a0035c0055t0002g0069 a0038c0069t0001g0056 a0050c0056t0001g0073 a0073c0034t0001g0055	27	170	0.1588	30	c.101 others(49): Show c.10134+669_10134+698dupGGGGGTCTGTCCTGGGGGGTCTGTCC TGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123911291	C C	CCTGGGGG others(23): Show CCTGGGGGGTCTGTCCTGGGGGGGGTCTGTA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	170	0.0059	30	c.101 others(49): Show c.10134+648_10134+649insACTGGGGGGTCTGTCCTGGGGGGGGT CTGT	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123911872	G G	GGGGGTCT others(23): Show GGGGGTCTGTCCTGGGGGGGGGGTCTGTCCT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0003 a0002c0011t0001g0003	1	170	0.0059	30	c.101 others(51): Show c.10134+1204_10134+1205insTCTGTCCTGGGGGGGGGGTCTGTC CTGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123912277	C C	CCTGGGGG others(23): Show CCTGGGGGGGGTCTGTCCTGGGGGGGTCTGT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	170	0.0059	30	c.101 others(49): Show c.10135-820_10135-819insTGGGGGGGGTCTGTCCTGGGGGGGTC TGTC	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH11_chr7_21538039_21906839	21789798	T T	TTTTTTCT others(23): Show TTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0177 a0177	a0177c0246 a0177c0246	a0177c0246t0001 a0177c0246t0001	a0177c0246t0001g0231 a0177c0246t0001g0231	1	298	0.0034	30	c.100 others(49): Show c.10026+458_10026+459insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTT	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH12_chr3_57288700_57549344	57302567	A A	ATATATAT others(23): Show ATATATATATATATATGTATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0124 a0002c0002t0001g0124	1	266	0.0038	30	c.111 others(49): Show c.11190-629_11190-628insAAAAAAAAAAAATACATATATATATA TATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	69/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57302567	A A	ATATATAT others(23): Show ATATATATGTATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02451.hp1 HG01109.hp1 HG02451.hp1	a0012 a0026 a0012 a0026	a0012c0010 a0026c0020 a0012c0010 a0026c0020	a0012c0010t0002 a0026c0020t0004 a0012c0010t0002 a0026c0020t0004	a0012c0010t0002g0259 a0026c0020t0004g0219 a0012c0010t0002g0259 a0026c0020t0004g0219	2	266	0.0075	30	c.111 others(49): Show c.11190-629_11190-628insAAAAAAAAAAAAAAAAAAAATACATA TATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	69/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57333329	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02622.hp1 HG02886.hp1 HG02258.hp2 HG02622.hp1 HG02886.hp1	a0007 a0013 a0007 a0013	a0007c0008 a0013c0009 a0007c0008 a0013c0009	a0007c0008t0002 a0013c0009t0001 a0007c0008t0002 a0013c0009t0001	a0007c0008t0002g0046 a0007c0008t0002g0078 a0013c0009t0001g0111 a0007c0008t0002g0046 a0007c0008t0002g0078 a0013c0009t0001g0111	3	266	0.0113	30	c.997 others(49): Show c.9978+1135_9978+1136insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	62/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57361444	C C	CACACTAT others(23): Show CACACTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0017 a0017	a0017c0062 a0017c0062	a0017c0062t0002 a0017c0062t0002	a0017c0062t0002g0252 a0017c0062t0002g0252	1	266	0.0038	30	c.936 others(49): Show c.9360+2149_9360+2150insTATATATATATATATATATATATATA GTGT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	58/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57361444	C C	CACTATAT others(23): Show CACTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp2 HG02818.hp1 HG02622.hp1 HG02622.hp2 HG02818.hp1	a0007 a0011 a0035 a0007 a0011 a0035	a0007c0008 a0011c0018 a0035c0045 a0007c0008 a0011c0018 a0035c0045	a0007c0008t0002 a0011c0018t0001 a0035c0045t0002 a0007c0008t0002 a0011c0018t0001 a0035c0045t0002	a0007c0008t0002g0046 a0011c0018t0001g0058 a0035c0045t0002g0012 a0007c0008t0002g0046 a0011c0018t0001g0058 a0035c0045t0002g0012	3	266	0.0113	30	c.936 others(49): Show c.9360+2149_9360+2150insTATATATATATATATATATATATATA TAGT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	58/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57389822	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01106.hp2 NA18947.hp1 others(1): Show HG00280.hp2 HG01106.hp2 NA18947.hp1 NA18981.hp2	a0008 a0028 a0052 a0008 a0028 a0052	a0008c0007 a0028c0021 a0052c0091 a0008c0007 a0028c0021 a0052c0091	a0008c0007t0001 a0028c0021t0001 a0052c0091t0001 a0008c0007t0001 a0028c0021t0001 a0052c0091t0001	a0008c0007t0001g0167 a0028c0021t0001g0092 a0028c0021t0001g0098 others(1): Show a0008c0007t0001g0167 a0028c0021t0001g0092 a0028c0021t0001g0098 a0052c0091t0001g0230	4	266	0.0150	30	c.730 others(49): Show c.7305+2049_7305+2050insTATATATATATATATATATATATATA TACA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57389822	G G	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0067 a0004c0004t0001g0067	1	266	0.0038	30	c.730 others(49): Show c.7305+2049_7305+2050insTATATATATATATATATATATATATA CACA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57389822	G G	GTGTGTGT others(23): Show GTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0038 a0004c0004t0001g0038	1	266	0.0038	30	c.730 others(49): Show c.7305+2049_7305+2050insTATATATATATATATATATATATACA CACA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57389822	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0057 a0057	a0057c0078 a0057c0078	a0057c0078t0001 a0057c0078t0001	a0057c0078t0001g0164 a0057c0078t0001g0164	1	266	0.0038	30	c.730 others(49): Show c.7305+2049_7305+2050insTATATATATATATACACACACACACA CACA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57389839	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG04228.hp1 HG01109.hp2 HG04228.hp1	a0032 a0046 a0032 a0046	a0032c0042 a0046c0029 a0032c0042 a0046c0029	a0032c0042t0001 a0046c0029t0001 a0032c0042t0001 a0046c0029t0001	a0032c0042t0001g0059 a0046c0029t0001g0146 a0032c0042t0001g0059 a0046c0029t0001g0146	2	266	0.0075	30	c.730 others(49): Show c.7305+2032_7305+2033insTTATATATATATATATATATATATAT ATAT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01891.hp1 HG01515.hp2 HG01891.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0025 a0001c0001 a0009c0025	a0001c0001t0001 a0009c0025t0003 a0001c0001t0001 a0009c0025t0003	a0001c0001t0001g0213 a0009c0025t0003g0004 a0001c0001t0001g0213 a0009c0025t0003g0004	2	266	0.0075	30	c.730 others(49): Show c.7305+1447_7305+1448insATATATATATATATATATTTTTTTTT TTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp1 NA18970.hp2 NA20905.hp1 HG01517.hp1 NA18970.hp2 NA20905.hp1	a0001 a0064 a0001 a0064	a0001c0001 a0064c0072 a0001c0001 a0064c0072	a0001c0001t0001 a0064c0072t0001 a0001c0001t0001 a0064c0072t0001	a0001c0001t0001g0192 a0001c0001t0001g0212 a0064c0072t0001g0209 a0001c0001t0001g0192 a0001c0001t0001g0212 a0064c0072t0001g0209	3	266	0.0113	30	c.730 others(49): Show c.7305+1447_7305+1448insATATATATATATATATATATTTTTTT TTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02630.hp2 HG02897.hp1 others(2): Show HG01361.hp2 HG02630.hp2 HG02897.hp1 NA18949.hp2 NA18966.hp1	a0001 a0063 a0001 a0063	a0001c0001 a0001c0027 a0063c0061 a0001c0001 a0001c0027 a0063c0061	a0001c0001t0001 a0001c0027t0001 a0063c0061t0001 a0001c0001t0001 a0001c0027t0001 a0063c0061t0001	a0001c0001t0001g0172 a0001c0001t0001g0196 a0001c0001t0001g0231 others(2): Show a0001c0001t0001g0172 a0001c0001t0001g0196 a0001c0001t0001g0231 a0001c0027t0001g0186 a0063c0061t0001g0077	5	266	0.0188	30	c.730 others(49): Show c.7305+1447_7305+1448insATATATATATATATATATATATTTTT TTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0191 a0005c0005t0001g0191	1	266	0.0038	30	c.730 others(49): Show c.7305+1447_7305+1448insATATATATATATATATATATATATTT TTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH14_chr1_224924675_225404286	225335760	T T	TATGTGCA others(23): Show TATGTGCATATATGTATATACACATATATAC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02300.hp1 HG02683.hp2 others(6): Show HG01515.hp2 HG02300.hp1 HG02683.hp2 NA18951.hp1 NA18975.hp2 NA18987.hp1 NA18991.hp2 NA20752.hp1 NA20805.hp2	a0001 a0051 a0096 a0001 a0051 a0096	a0001c0001 a0051c0066 a0096c0099 a0001c0001 a0051c0066 a0096c0099	a0001c0001t0001 a0001c0001t0002 a0051c0066t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0051c0066t0001 a0096c0099t0001	a0001c0001t0001g0034 a0001c0001t0001g0132 a0001c0001t0001g0147 others(6): Show a0001c0001t0001g0034 a0001c0001t0001g0132 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0002g0163 a0051c0066t0001g0065 a0096c0099t0001g0196	9	240	0.0375	30	c.100 others(51): Show c.10081-1505_10081-1504insTGTGCATATATGTATATACACATA TATACA	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	66/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH14_chr1_224924675_225404286	225374145	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0074 a0074	a0074c0117 a0074c0117	a0074c0117t0001 a0074c0117t0001	a0074c0117t0001g0191 a0074c0117t0001g0191	1	240	0.0042	30	c.123 others(49): Show c.12319-534_12319-505dupTATATATATATATATATATATATATA TATA	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	77/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH17_chr17_78418697_78582396	78460321	C C	CGTGCATG others(23): Show CGTGCATGTGTGTGCATGTGTGTGCATGTGT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03486.hp2 HG03834.hp1 others(2): Show HG01106.hp1 HG03486.hp2 HG03834.hp1 NA18939.hp1 NA20805.hp1	a0044 a0083 a0096 others(2): Show a0044 a0083 a0096 a0099 a0125	a0044c0037 a0083c0078 a0096c0180 others(2): Show a0044c0037 a0083c0078 a0096c0180 a0099c0177 a0125c0153	a0044c0037t0002 a0083c0078t0001 a0096c0180t0001 others(2): Show a0044c0037t0002 a0083c0078t0001 a0096c0180t0001 a0099c0177t0001 a0125c0153t0001	a0044c0037t0002g0101 a0083c0078t0001g0067 a0096c0180t0001g0230 others(2): Show a0044c0037t0002g0101 a0083c0078t0001g0067 a0096c0180t0001g0230 a0099c0177t0001g0245 a0125c0153t0001g0032	5	252	0.0198	30	c.934 others(45): Show c.9340-94_9340-65dupACACATGCACACACATGCACACACATGCAC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	58/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78478014	T T	TCATCACC others(23): Show TCATCACCATTATCATCTCCACCATCACCAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01261.hp2 HG01884.hp1 others(15): Show HG00558.hp2 HG01261.hp2 HG01884.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp2 HG02717.hp2 HG02895.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03098.hp1 HG03209.hp1 HG03225.hp1 NA18522.hp1 NA18982.hp1 NA19240.hp2 NA20129.hp2	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0011 a0024 a0027 a0074 a0087 a0095 a0108 a0130 a0139 a0140	a0001c0113 a0002c0161 a0003c0006 others(13): Show a0001c0113 a0002c0161 a0003c0006 a0004c0081 a0005c0226 a0011c0007 a0011c0207 a0024c0018 a0027c0028 a0074c0106 a0087c0229 a0095c0088 a0108c0183 a0130c0160 a0139c0196 a0140c0225	a0001c0113t0001 a0002c0161t0003 a0003c0006t0001 others(13): Show a0001c0113t0001 a0002c0161t0003 a0003c0006t0001 a0004c0081t0001 a0005c0226t0002 a0011c0007t0002 a0011c0207t0001 a0024c0018t0001 a0027c0028t0001 a0074c0106t0001 a0087c0229t0002 a0095c0088t0002 a0108c0183t0002 a0130c0160t0002 a0139c0196t0001 a0140c0225t0001	a0001c0113t0001g0098 a0002c0161t0003g0246 a0003c0006t0001g0148 others(15): Show a0001c0113t0001g0098 a0002c0161t0003g0246 a0003c0006t0001g0148 a0003c0006t0001g0149 a0004c0081t0001g0024 a0005c0226t0002g0079 a0011c0007t0002g0045 a0011c0007t0002g0130 a0011c0207t0001g0117 a0024c0018t0001g0012 a0027c0028t0001g0116 a0074c0106t0001g0103 a0087c0229t0002g0008 a0095c0088t0002g0099 a0108c0183t0002g0092 a0130c0160t0002g0115 a0139c0196t0001g0129 a0140c0225t0001g0006	18	252	0.0714	30	c.799 others(49): Show c.7992+1010_7992+1011insGTGGTGATGGTGGAGATGATAATGGT GATG	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	51/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78543287	G G	GTATTTTT others(23): Show GTATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0098 a0098	a0098c0097 a0098c0097	a0098c0097t0001 a0098c0097t0001	a0098c0097t0001g0105 a0098c0097t0001g0105	1	252	0.0040	30	c.253 others(47): Show c.2532+569_2532+570insAAAAAAAAAAAAAAAAAAAAAAAAAAAA TA	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAH2_chr17_7712744_7838742	7725425	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02280.hp2 HG02572.hp1 others(3): Show HG01168.hp1 HG02280.hp2 HG02572.hp1 HG02615.hp1 HG03516.hp1 HG03579.hp1	a0017 a0021 a0027 others(2): Show a0017 a0021 a0027 a0029 a0035	a0017c0024 a0021c0113 a0027c0076 others(2): Show a0017c0024 a0021c0113 a0027c0076 a0029c0039 a0035c0099	a0017c0024t0002 a0017c0024t0003 a0021c0113t0002 others(3): Show a0017c0024t0002 a0017c0024t0003 a0021c0113t0002 a0027c0076t0001 a0029c0039t0002 a0035c0099t0002	a0017c0024t0002g0253 a0017c0024t0003g0251 a0021c0113t0002g0079 others(3): Show a0017c0024t0002g0253 a0017c0024t0003g0251 a0021c0113t0002g0079 a0027c0076t0001g0090 a0029c0039t0002g0258 a0035c0099t0002g0259	6	316	0.0190	30	c.229 others(47): Show c.229-1681_229-1680insATATATATATATATATATATATATATAT AT	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	3/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH2_chr17_7712744_7838742	7780797	C C	CAGCCTTT others(23): Show CAGCCTTTGGACCTGACTTCCACTGTCACTG	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0054 a0002c0003t0002g0054	1	316	0.0032	30	c.600 others(45): Show c.6003+16_6003+45dupAGCCTTTGGACCTGACTTCCACTGTCACTG	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	38/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH3_chr16_20928111_21155846	20984029	G G	GAAAAAAG others(23): Show GAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0033 a0033	a0033c0077 a0033c0077	a0033c0077t0001 a0033c0077t0001	a0033c0077t0001g0230 a0033c0077t0001g0230	1	234	0.0043	30	c.755 others(49): Show c.7555+1019_7555+1020insTTTTTTTTTTTTTTTTTTTTTTTCTT TTTT	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	48/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21020348	G G	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01516.hp1 HG02258.hp2 HG00642.hp2 HG01516.hp1 HG02258.hp2	a0001 a0003 a0039 a0001 a0003 a0039	a0001c0002 a0003c0005 a0039c0069 a0001c0002 a0003c0005 a0039c0069	a0001c0002t0001 a0003c0005t0001 a0039c0069t0001 a0001c0002t0001 a0003c0005t0001 a0039c0069t0001	a0001c0002t0001g0029 a0003c0005t0001g0189 a0039c0069t0001g0117 a0001c0002t0001g0029 a0003c0005t0001g0189 a0039c0069t0001g0117	3	234	0.0128	30	c.563 others(47): Show c.5639-480_5639-479insTATATATATATATATATATATATATACA CA	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	40/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21020348	G G	GTGTGTGT others(23): Show GTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0068 a0002c0006t0001g0068	1	234	0.0043	30	c.563 others(47): Show c.5639-480_5639-479insTATATATATATATATATATATATACACA CA	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	40/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21020397	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0167 a0004c0007t0001g0167	1	234	0.0043	30	c.563 others(47): Show c.5639-529_5639-528insAAAAAAAAAATATATATATATATATATA TA	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	40/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21067776	G G	GGAGAGAG others(23): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA19010.hp1 HG02738.hp2 NA19010.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0002c0006t0001 a0001c0001t0001 a0002c0006t0001	a0001c0001t0001g0020 a0002c0006t0001g0113 a0001c0001t0001g0020 a0002c0006t0001g0113	2	234	0.0086	30	c.324 others(47): Show c.3244-358_3244-357insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TC	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	23/61			chr16	TogoVar
DNAH5_chr5_13685328_13949688	13713124	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0052 a0052	a0052c0197 a0052c0197	a0052c0197t0014 a0052c0197t0014	a0052c0197t0014g0224 a0052c0197t0014g0224	1	252	0.0040	30	c.131 others(51): Show c.13125+1280_13125+1281insGTGTGTGTATATATATATATATAT ATATAT	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	75/78			chr5	TogoVar
DNAH5_chr5_13685328_13949688	13778598	G G	GAAAGAAA others(23): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0017 a0017	a0017c0008 a0017c0008	a0017c0008t0002 a0017c0008t0002	a0017c0008t0002g0215 a0017c0008t0002g0215	1	252	0.0040	30	c.895 others(49): Show c.8952-1244_8952-1243insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	53/78			chr5	TogoVar
DNAH5_chr5_13685328_13949688	13842433	A A	AAGAGAGA others(23): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0037 a0037	a0037c0183 a0037c0183	a0037c0183t0002 a0037c0183t0002	a0037c0183t0002g0140 a0037c0183t0002g0140	1	252	0.0040	30	c.527 others(47): Show c.5272-530_5272-529insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CT	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	32/78			chr5	TogoVar
DNAH5_chr5_13685328_13949688	13842437	A A	AAGAAAGA others(23): Show AAGAAAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0105 a0105	a0105c0064 a0105c0064	a0105c0064t0001 a0105c0064t0001	a0105c0064t0001g0021 a0105c0064t0001g0021	1	252	0.0040	30	c.527 others(47): Show c.5272-534_5272-533insCTCTCTCTCTCTCTCTCTCTCTCTCTTT CT	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	32/78			chr5	TogoVar
DNAH7_chr2_195732703_196073837	195766167	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03225.hp2 HG03516.hp1 others(2): Show HG02559.hp1 HG03225.hp2 HG03516.hp1 NA19240.hp2 NA20300.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0039 a0008c0009t0002g0040 a0008c0009t0002g0042 others(2): Show a0008c0009t0002g0039 a0008c0009t0002g0040 a0008c0009t0002g0042 a0008c0009t0002g0043 a0008c0009t0002g0046	5	256	0.0195	30	c.114 others(51): Show c.11433+5492_11433+5493insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	DNAH7	ENSG00000118997.14	transcript	ENST00000312428.11	protein_coding	61/64			chr2	TogoVar

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