Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
DMD_chrX_31114222_33216549	33108868	G G	GAAAAAAA others(24): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01943.hp1 HG01515.hp1 HG01943.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0007 a0001c0002 a0005c0007	a0001c0002t0002 a0005c0007t0001 a0001c0002t0002 a0005c0007t0001	a0001c0002t0002g0052 a0005c0007t0001g0073 a0001c0002t0002g0052 a0005c0007t0001g0073	2	15	0.1333	31	c.32- others(48): Show c.32-88669_32-88668insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMPK_chr19_45764717_45787490	45785566	C C	CAGGAGAA others(24): Show CAGGAGAAAACAAATTGATCCACATAATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	414	0.0024	31	c.-32 others(42): Show c.-3215_-3214insAATTATTATGTGGATCAATTTGTTTTCTCCT	DMPK	ENSG00000104936.20	transcript	ENST00000291270.9	protein_coding		3077		chr19	TogoVar
DNAAF1_chr16_84140308_84182918	84148596	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	78	0.0128	31	c.125 others(46): Show c.125-393_125-392insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF3_chr19_55153665_55171613	55170873	T T	TCTCTCTC others(24): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0036 a0005c0008t0001g0036	1	383	0.0026	31	c.-43 others(42): Show c.-4356_-4355insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4261		chr19	TogoVar
DNAAF9_chr20_3244306_3412669	3310333	A A	AAAAGAAA others(24): Show AAAAGAAAGAAAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0029 a0001c0003t0004g0029	1	43	0.0233	31	c.167 others(50): Show c.1678+4699_1678+4700insCTTTCTTTCTTTCTTTCTTTTTTCTT TCTTT	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	20/36			chr20	TogoVar
DNAH10_chr12_123757301_123940714	123911285	A A	ATCTGTCC others(24): Show ATCTGTCCTGGGGGGTCTGTCCTGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0164 a0002c0011t0001g0164	1	141	0.0071	31	c.101 others(50): Show c.10134+643_10134+644insGTCTGTCCTGGGGGGTCTGTCCTGGG GGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123911307	T T	TGGGGGGG others(24): Show TGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0116 a0001c0002t0002g0116	1	168	0.0060	31	c.101 others(50): Show c.10134+643_10134+673dupGTCTGTCCTGGGGGGTCTGTCCTGGG GGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123911734	G G	GGGGGTCT others(24): Show GGGGGTCTGTCCTGGGCGGGGGGGTCTGTCCT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02486.hp1 HG01175.hp2 HG02486.hp1	a0001 a0042 a0001 a0042	a0001c0068 a0042c0075 a0001c0068 a0042c0075	a0001c0068t0001 a0042c0075t0001 a0001c0068t0001 a0042c0075t0001	a0001c0068t0001g0160 a0042c0075t0001g0124 a0001c0068t0001g0160 a0042c0075t0001g0124	2	154	0.0130	31	c.101 others(52): Show c.10134+1066_10134+1067insTCTGTCCTGGGCGGGGGGGTCTGT CCTGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH11_chr7_21538039_21906839	21612575	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0069 a0069	a0069c0247 a0069c0247	a0069c0247t0002 a0069c0247t0002	a0069c0247t0002g0166 a0069c0247t0002g0166	1	296	0.0034	31	c.385 others(50): Show c.3853-2538_3853-2537insAAAAAAAAAAAAAAAAAAAAAAAAAA AGAGA	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	20/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH11_chr7_21538039_21906839	21903638	T T	TTTACCGA others(24): Show TTTACCGAGGGAGCTGAGAGAGGTTATACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG00597.hp2 others(89): Show HG00423.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00673.hp1 HG01070.hp2 HG01071.hp1 HG01167.hp1 HG01168.hp2 HG01192.hp1 HG01884.hp1 HG01891.hp1 HG02027.hp1 HG02055.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03139.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp2 HG03831.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18984.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19074.hp1 NA19077.hp1 NA19085.hp1 NA19085.hp2	a0001 a0003 a0005 others(72): Show a0001 a0003 a0005 a0006 a0007 a0008 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0024 a0030 a0032 a0034 a0037 a0038 a0041 a0046 a0048 a0049 a0053 a0066 a0069 a0070 a0081 a0082 a0091 a0093 a0100 a0101 a0108 a0109 a0113 a0117 a0122 a0123 a0124 a0132 a0142 a0149 a0154 a0158 a0159 a0166 a0172 a0173 a0180 a0182 a0183 a0184 a0186 a0189 a0190 a0192 a0194 a0195 a0198 a0199 a0202 a0203 a0206 a0207 a0208 a0209 a0210 a0211 a0212 a0213 a0214 a0215 a0218 a0219	a0001c0090 a0001c0091 a0001c0107 others(85): Show a0001c0090 a0001c0091 a0001c0107 a0001c0141 a0003c0009 a0003c0054 a0003c0062 a0003c0081 a0005c0161 a0006c0214 a0007c0270 a0008c0112 a0008c0151 a0012c0014 a0013c0268 a0013c0271 a0013c0277 a0014c0004 a0014c0035 a0015c0169 a0016c0006 a0017c0120 a0017c0124 a0018c0202 a0024c0263 a0030c0021 a0032c0044 a0034c0144 a0037c0198 a0037c0203 a0038c0020 a0041c0222 a0041c0223 a0046c0129 a0048c0233 a0049c0104 a0053c0150 a0066c0077 a0069c0247 a0070c0236 a0081c0056 a0082c0200 a0091c0243 a0093c0118 a0100c0276 a0101c0176 a0108c0174 a0109c0126 a0113c0058 a0117c0196 a0122c0256 a0123c0246 a0124c0257 a0132c0047 a0142c0211 a0149c0260 a0154c0250 a0158c0046 a0159c0158 a0166c0182 a0172c0255 a0173c0130 a0180c0225 a0182c0180 a0183c0249 a0184c0177 a0186c0064 a0189c0209 a0190c0087 a0192c0122 a0194c0207 a0195c0093 a0198c0113 a0199c0074 a0202c0096 a0203c0072 a0206c0153 a0207c0057 a0208c0204 a0209c0106 a0210c0195 a0211c0181 a0212c0172 a0213c0060 a0214c0275 a0215c0098 a0218c0178 a0219c0208	a0001c0090t0002 a0001c0091t0002 a0001c0107t0002 others(86): Show a0001c0090t0002 a0001c0091t0002 a0001c0107t0002 a0001c0141t0002 a0003c0009t0002 a0003c0054t0002 a0003c0062t0002 a0003c0081t0002 a0005c0161t0008 a0006c0214t0006 a0007c0270t0006 a0008c0112t0006 a0008c0151t0006 a0012c0014t0002 a0012c0014t0012 a0013c0268t0002 a0013c0271t0002 a0013c0277t0002 a0014c0004t0002 a0014c0035t0002 a0015c0169t0008 a0016c0006t0002 a0017c0120t0002 a0017c0124t0002 a0018c0202t0006 a0024c0263t0002 a0030c0021t0002 a0032c0044t0002 a0034c0144t0002 a0037c0198t0002 a0037c0203t0002 a0038c0020t0006 a0041c0222t0002 a0041c0223t0002 a0046c0129t0002 a0048c0233t0002 a0049c0104t0002 a0053c0150t0002 a0066c0077t0002 a0069c0247t0002 a0070c0236t0002 a0081c0056t0001 a0082c0200t0001 a0091c0243t0002 a0093c0118t0001 a0100c0276t0012 a0101c0176t0002 a0108c0174t0002 a0109c0126t0002 a0113c0058t0020 a0117c0196t0021 a0122c0256t0007 a0123c0246t0001 a0124c0257t0007 a0132c0047t0001 a0142c0211t0001 a0149c0260t0015 a0154c0250t0002 a0158c0046t0023 a0159c0158t0001 a0166c0182t0008 a0172c0255t0002 a0173c0130t0002 a0180c0225t0002 a0182c0180t0006 a0183c0249t0002 a0184c0177t0002 a0186c0064t0002 a0189c0209t0002 a0190c0087t0002 a0192c0122t0002 a0194c0207t0002 a0195c0093t0002 a0198c0113t0002 a0199c0074t0006 a0202c0096t0002 a0203c0072t0002 a0206c0153t0003 a0207c0057t0002 a0208c0204t0002 a0209c0106t0006 a0210c0195t0002 a0211c0181t0001 a0212c0172t0008 a0213c0060t0001 a0214c0275t0002 a0215c0098t0002 a0218c0178t0002 a0219c0208t0006	a0001c0090t0002g0027 a0001c0091t0002g0015 a0001c0107t0002g0067 others(89): Show a0001c0090t0002g0027 a0001c0091t0002g0015 a0001c0107t0002g0067 a0001c0141t0002g0026 a0003c0009t0002g0038 a0003c0054t0002g0063 a0003c0062t0002g0281 a0003c0081t0002g0061 a0005c0161t0008g0099 a0006c0214t0006g0174 a0007c0270t0006g0148 a0008c0112t0006g0094 a0008c0151t0006g0025 a0012c0014t0002g0053 a0012c0014t0012g0047 a0013c0268t0002g0150 a0013c0271t0002g0153 a0013c0277t0002g0155 a0014c0004t0002g0237 a0014c0004t0002g0247 a0014c0035t0002g0283 a0015c0169t0008g0116 a0016c0006t0002g0248 a0016c0006t0002g0298 a0017c0120t0002g0070 a0017c0124t0002g0103 a0018c0202t0006g0162 a0024c0263t0002g0140 a0030c0021t0002g0144 a0032c0044t0002g0269 a0034c0144t0002g0051 a0037c0198t0002g0143 a0037c0203t0002g0161 a0038c0020t0006g0138 a0038c0020t0006g0145 a0041c0222t0002g0181 a0041c0223t0002g0178 a0046c0129t0002g0074 a0048c0233t0002g0205 a0049c0104t0002g0261 a0053c0150t0002g0295 a0066c0077t0002g0046 a0069c0247t0002g0166 a0070c0236t0002g0213 a0081c0056t0001g0118 a0082c0200t0001g0134 a0091c0243t0002g0195 a0093c0118t0001g0045 a0100c0276t0012g0154 a0101c0176t0002g0124 a0108c0174t0002g0023 a0109c0126t0002g0042 a0113c0058t0020g0002 a0117c0196t0021g0168 a0122c0256t0007g0221 a0123c0246t0001g0232 a0124c0257t0007g0222 a0132c0047t0001g0114 a0142c0211t0001g0230 a0149c0260t0015g0226 a0154c0250t0002g0133 a0158c0046t0023g0120 a0159c0158t0001g0012 a0166c0182t0008g0044 a0172c0255t0002g0160 a0173c0130t0002g0017 a0180c0225t0002g0204 a0182c0180t0006g0122 a0183c0249t0002g0217 a0184c0177t0002g0123 a0186c0064t0002g0289 a0189c0209t0002g0163 a0190c0087t0002g0020 a0192c0122t0002g0076 a0194c0207t0002g0165 a0195c0093t0002g0030 a0198c0113t0002g0111 a0199c0074t0006g0290 a0202c0096t0002g0066 a0203c0072t0002g0286 a0206c0153t0003g0077 a0207c0057t0002g0266 a0208c0204t0002g0164 a0209c0106t0006g0096 a0210c0195t0002g0167 a0211c0181t0001g0003 a0212c0172t0008g0087 a0213c0060t0001g0005 a0214c0275t0002g0183 a0215c0098t0002g0106 a0218c0178t0002g0126 a0219c0208t0006g0176	92	296	0.3108	31	c.23 others(42): Show c.2384_*2385insTTACCGAGGGAGCTGAGAGAGGTTATACACC	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding		1800		chr7	TogoVar
DNAH12_chr3_57288700_57549344	57302567	A A	ATATATAT others(24): Show ATATATATATATATATATATGTATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18970.hp1 NA18942.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0123 a0002c0002t0001g0156 a0002c0002t0001g0123 a0002c0002t0001g0156	2	100	0.0200	31	c.111 others(50): Show c.11190-629_11190-628insAAAAAAAAATACATATATATATATAT ATATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	69/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57302567	A A	ATATATAT others(24): Show ATATATATATGTATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0013 a0013	a0013c0010 a0013c0010	a0013c0010t0002 a0013c0010t0002	a0013c0010t0002g0260 a0013c0010t0002g0260	1	99	0.0101	31	c.111 others(50): Show c.11190-629_11190-628insAAAAAAAAAAAAAAAAAAATACATAT ATATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	69/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57333329	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0021 a0021	a0021c0019 a0021c0019	a0021c0019t0001 a0021c0019t0001	a0021c0019t0001g0005 a0021c0019t0001g0005	1	147	0.0068	31	c.997 others(50): Show c.9978+1135_9978+1136insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	62/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	82	0.0122	31	c.730 others(50): Show c.7305+1447_7305+1448insATATATATATATATATATTTTTTTTT TTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	82	0.0122	31	c.730 others(50): Show c.7305+1447_7305+1448insATATATATATATATATATATTTTTTT TTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02896.hp2 HG04115.hp1 HG02698.hp1 HG02896.hp2 HG04115.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0001c0027 a0012c0024 a0001c0001 a0001c0027 a0012c0024	a0001c0001t0001 a0001c0027t0001 a0012c0024t0001 a0001c0001t0001 a0001c0027t0001 a0012c0024t0001	a0001c0001t0001g0171 a0001c0027t0001g0185 a0012c0024t0001g0183 a0001c0001t0001g0171 a0001c0027t0001g0185 a0012c0024t0001g0183	3	84	0.0357	31	c.730 others(50): Show c.7305+1447_7305+1448insATATATATATATATATATATATTTTT TTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	82	0.0122	31	c.730 others(50): Show c.7305+1447_7305+1448insATATATATATATATATATATATATTT TTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	82	0.0122	31	c.730 others(50): Show c.7305+1447_7305+1448insATATATATATATATATATATATATAT TTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57499647	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0071 a0071	a0071c0072 a0071c0072	a0071c0072t0001 a0071c0072t0001	a0071c0072t0001g0208 a0071c0072t0001g0208	1	59	0.0169	31	c.133 others(50): Show c.1335+1673_1335+1674insATATATATATATATTTTTTTTTTTTT TTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	11/73			chr3	TogoVar
DNAH17_chr17_78418697_78582396	78433923	A A	AGAAGGAA others(24): Show AGAAGGAAGGAAGGAGGGAGGGAAGGAGGGAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0017 a0017	a0017c0167 a0017c0167	a0017c0167t0001 a0017c0167t0001	a0017c0167t0001g0094 a0017c0167t0001g0094	1	71	0.0141	31	c.122 others(50): Show c.12225+105_12225+106insCTCCCTCCTTCCCTCCCTCCTTCCTT CCTTC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	75/80			chr17	TogoVar
DNAH5_chr5_13685328_13949688	13842433	A A	AGAGAGAG others(24): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG03209.hp2 HG00609.hp2 HG03209.hp2	a0006 a0011 a0006 a0011	a0006c0019 a0011c0132 a0006c0019 a0011c0132	a0006c0019t0001 a0011c0132t0001 a0006c0019t0001 a0011c0132t0001	a0006c0019t0001g0077 a0011c0132t0001g0192 a0006c0019t0001g0077 a0011c0132t0001g0192	2	154	0.0130	31	c.527 others(48): Show c.5272-530_5272-529insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTC	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	32/78			chr5	TogoVar
DNAH8_chr6_38710311_39035792	38715960	A A	ATATATAT others(24): Show ATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0064 a0064	a0064c0140 a0064c0140	a0064c0140t0001 a0064c0140t0001	a0064c0140t0001g0031 a0064c0140t0001g0031	1	101	0.0099	31	c.-35 others(46): Show c.-35+546_-35+547insATATATATATATATTTTTTTTTTTTTTTTT T	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	1/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAH8_chr6_38710311_39035792	38818537	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0025 a0025	a0025c0043 a0025c0043	a0025c0043t0001 a0025c0043t0001	a0025c0043t0001g0280 a0025c0043t0001g0280	1	72	0.0139	31	c.352 others(50): Show c.3523+2896_3523+2897insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	26/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAI7_chr12_25103289_25200160	25108825	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	2	0.5000	31	c.189 others(44): Show c.1894-3_1894-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	15/15			chr12	TogoVar
DNAI7_chr12_25103289_25200160	25120317	G G	GAGAGAGA others(24): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA18962.hp2 HG04199.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0096 a0001c0001t0001g0067 a0001c0001t0001g0096	2	48	0.0417	31	c.124 others(50): Show c.1240-1017_1240-1016insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	11/15			chr12	TogoVar
DNAJC13_chr3_132412502_132544032	132487559	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03195.hp2 HG03098.hp1 HG03195.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0002 a0004c0005t0001 a0001c0001t0002 a0004c0005t0001	a0001c0001t0002g0296 a0004c0005t0001g0285 a0001c0001t0002g0296 a0004c0005t0001g0285	2	48	0.0417	31	c.326 others(48): Show c.3268-719_3268-718insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	DNAJC13	ENSG00000138246.17	transcript	ENST00000260818.11	protein_coding	29/55		INFO_REALIGN_3_PRIME	chr3	TogoVar
DNAJC15_chr13_43018586_43119213	43051356	C C	CTAAAGAT others(24): Show CTAAAGATAAATCTTTAGATACACTAAAATGA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA19072.hp2 NA18975.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0276 a0001c0001t0002g0217 a0001c0001t0002g0276	2	350	0.0057	31	c.109 others(50): Show c.109-14329_109-14328insAAAGATAAATCTTTAGATACACTAAA ATGAT	DNAJC15	ENSG00000120675.6	transcript	ENST00000379221.4	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
DNAJC3_chr13_95672139_95799988	95704851	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02132.hp2 HG00597.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0109 a0001c0001t0005g0150 a0001c0001t0005g0109 a0001c0001t0005g0150	2	207	0.0097	31	c.83- others(46): Show c.83-4358_83-4357insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	DNAJC3	ENSG00000102580.15	transcript	ENST00000602402.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
DNAJC4_chr11_64225548_64239281	64237085	A A	AGAGAGAG others(24): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	138	0.0072	31	c.29 others(42): Show c.2901_*2902insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2805		chr11	TogoVar
DNAJC6_chr1_65304543_65420871	65362164	G G	GGCTCAAT others(24): Show GGCTCAATCTCAACTCTGCTAGTAAATAAATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(256): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18944.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp2 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19072.hp2 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0003 a0001c0005 others(17): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0011 a0001c0012 a0001c0015 a0002c0002 a0002c0004 a0002c0008 a0002c0013 a0002c0014 a0003c0007 a0004c0010 a0005c0009 a0006c0018 a0007c0019 a0008c0016 a0009c0017 a0010c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(66): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0020 a0001c0001t0021 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0009 a0001c0003t0012 a0001c0003t0013 a0001c0003t0024 a0001c0003t0026 a0001c0005t0002 a0001c0005t0003 a0001c0005t0004 a0001c0005t0018 a0001c0006t0005 a0001c0006t0013 a0001c0006t0015 a0001c0011t0028 a0001c0012t0001 a0001c0015t0004 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0002c0002t0014 a0002c0002t0027 a0002c0002t0029 a0002c0004t0002 a0002c0004t0003 a0002c0004t0004 a0002c0004t0005 a0002c0004t0006 a0002c0004t0007 a0002c0004t0008 a0002c0004t0011 a0002c0004t0017 a0002c0004t0025 a0002c0008t0004 a0002c0008t0013 a0002c0013t0030 a0002c0014t0004 a0003c0007t0001 a0003c0007t0007 a0003c0007t0022 a0003c0007t0023 a0004c0010t0003 a0004c0010t0004 a0005c0009t0004 a0006c0018t0001 a0007c0019t0004 a0008c0016t0001 a0009c0017t0006 a0010c0020t0005	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(243): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0060 a0001c0001t0001g0081 a0001c0001t0001g0095 a0001c0001t0001g0105 a0001c0001t0001g0133 a0001c0001t0001g0189 a0001c0001t0002g0049 a0001c0001t0002g0064 a0001c0001t0002g0118 a0001c0001t0002g0135 a0001c0001t0002g0220 a0001c0001t0002g0305 a0001c0001t0003g0032 a0001c0001t0003g0104 a0001c0001t0003g0187 a0001c0001t0003g0205 a0001c0001t0003g0230 a0001c0001t0005g0001 a0001c0001t0005g0047 a0001c0001t0005g0050 a0001c0001t0005g0071 a0001c0001t0006g0094 a0001c0001t0006g0235 a0001c0001t0007g0125 a0001c0001t0008g0014 a0001c0001t0008g0109 a0001c0001t0008g0117 a0001c0001t0008g0144 a0001c0001t0010g0122 a0001c0001t0020g0129 a0001c0001t0021g0041 a0001c0003t0001g0004 a0001c0003t0001g0012 a0001c0003t0001g0021 a0001c0003t0001g0058 a0001c0003t0001g0087 a0001c0003t0001g0088 a0001c0003t0001g0139 a0001c0003t0001g0145 a0001c0003t0001g0155 a0001c0003t0001g0163 a0001c0003t0001g0190 a0001c0003t0001g0202 a0001c0003t0001g0204 a0001c0003t0001g0224 a0001c0003t0002g0004 a0001c0003t0002g0006 a0001c0003t0002g0077 a0001c0003t0002g0091 a0001c0003t0002g0092 a0001c0003t0002g0093 a0001c0003t0002g0101 a0001c0003t0002g0111 a0001c0003t0002g0124 a0001c0003t0002g0142 a0001c0003t0002g0147 a0001c0003t0003g0051 a0001c0003t0003g0067 a0001c0003t0003g0074 a0001c0003t0003g0075 a0001c0003t0003g0076 a0001c0003t0003g0078 a0001c0003t0003g0079 a0001c0003t0003g0097 a0001c0003t0003g0100 a0001c0003t0003g0107 a0001c0003t0003g0108 a0001c0003t0003g0114 a0001c0003t0003g0115 a0001c0003t0003g0123 a0001c0003t0003g0138 a0001c0003t0003g0140 a0001c0003t0003g0141 a0001c0003t0003g0143 a0001c0003t0003g0146 a0001c0003t0003g0149 a0001c0003t0003g0182 a0001c0003t0003g0194 a0001c0003t0004g0005 a0001c0003t0004g0072 a0001c0003t0004g0085 a0001c0003t0004g0096 a0001c0003t0004g0148 a0001c0003t0004g0151 a0001c0003t0004g0152 a0001c0003t0004g0206 a0001c0003t0004g0208 a0001c0003t0004g0213 a0001c0003t0005g0297 a0001c0003t0005g0300 a0001c0003t0005g0302 a0001c0003t0006g0008 a0001c0003t0006g0020 a0001c0003t0006g0022 a0001c0003t0006g0089 a0001c0003t0006g0110 a0001c0003t0006g0157 a0001c0003t0006g0298 a0001c0003t0007g0007 a0001c0003t0007g0080 a0001c0003t0007g0136 a0001c0003t0009g0086 a0001c0003t0009g0231 a0001c0003t0012g0002 a0001c0003t0012g0029 a0001c0003t0013g0090 a0001c0003t0024g0154 a0001c0003t0026g0240 a0001c0005t0002g0010 a0001c0005t0002g0011 a0001c0005t0002g0185 a0001c0005t0002g0222 a0001c0005t0003g0219 a0001c0005t0003g0239 a0001c0005t0004g0010 a0001c0005t0018g0023 a0001c0006t0005g0045 a0001c0006t0013g0223 a0001c0006t0015g0027 a0001c0006t0015g0210 a0001c0006t0015g0238 a0001c0011t0028g0247 a0001c0012t0001g0044 a0001c0015t0004g0116 a0002c0002t0001g0026 a0002c0002t0001g0028 a0002c0002t0001g0043 a0002c0002t0001g0048 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0059 a0002c0002t0001g0061 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0069 a0002c0002t0001g0073 a0002c0002t0001g0098 a0002c0002t0001g0102 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0119 a0002c0002t0001g0128 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0134 a0002c0002t0001g0150 a0002c0002t0001g0158 a0002c0002t0001g0164 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0171 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0188 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0196 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0201 a0002c0002t0001g0207 a0002c0002t0001g0215 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0232 a0002c0002t0001g0237 a0002c0002t0001g0295 a0002c0002t0003g0036 a0002c0002t0003g0068 a0002c0002t0003g0082 a0002c0002t0003g0120 a0002c0002t0003g0159 a0002c0002t0003g0161 a0002c0002t0003g0173 a0002c0002t0003g0195 a0002c0002t0003g0299 a0002c0002t0003g0303 a0002c0002t0004g0003 a0002c0002t0004g0019 a0002c0002t0004g0024 a0002c0002t0004g0025 a0002c0002t0004g0294 a0002c0002t0004g0296 a0002c0002t0005g0304 a0002c0002t0007g0209 a0002c0002t0007g0301 a0002c0002t0009g0083 a0002c0002t0009g0084 a0002c0002t0009g0162 a0002c0002t0009g0200 a0002c0002t0010g0070 a0002c0002t0011g0038 a0002c0002t0011g0126 a0002c0002t0014g0057 a0002c0002t0014g0062 a0002c0002t0014g0106 a0002c0002t0027g0063 a0002c0002t0029g0234 a0002c0004t0002g0214 a0002c0004t0002g0233 a0002c0004t0003g0186 a0002c0004t0004g0009 a0002c0004t0004g0165 a0002c0004t0005g0009 a0002c0004t0005g0121 a0002c0004t0006g0169 a0002c0004t0006g0170 a0002c0004t0007g0137 a0002c0004t0008g0216 a0002c0004t0008g0217 a0002c0004t0011g0211 a0002c0004t0017g0166 a0002c0004t0025g0212 a0002c0008t0004g0181 a0002c0008t0013g0031 a0002c0013t0030g0042 a0002c0014t0004g0236 a0003c0007t0001g0172 a0003c0007t0007g0221 a0003c0007t0022g0040 a0003c0007t0023g0039 a0004c0010t0003g0030 a0004c0010t0004g0180 a0005c0009t0004g0052 a0005c0009t0004g0053 a0006c0018t0001g0197 a0007c0019t0004g0153 a0008c0016t0001g0218 a0009c0017t0006g0160 a0010c0020t0005g0103	259	324	0.7994	31	c.194 others(48): Show c.194-2471_194-2470insGCTCAATCTCAACTCTGCTAGTAAATAA ATA	DNAJC6	ENSG00000116675.16	transcript	ENST00000371069.5	protein_coding	1/18			chr1	TogoVar
DNASE1L1_chrX_154396236_154414254	154396693	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0006	1	246	0.0041	31	c.60 others(42): Show c.6013_*6014insATATATATATATATATATATATATATATATA	DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding		4542		chrX	TogoVar
DNASE1L1_chrX_154396236_154414254	154396712	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0062 a0001c0002t0011g0062	1	157	0.0064	31	c.59 others(42): Show c.5994_*5995insAAAAAAATATATATATATATATATATATATA	DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding		4523		chrX	TogoVar
DNASE1L1_chrX_154396236_154414254	154396712	A A	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0003 a0001c0002t0003g0003	1	157	0.0064	31	c.59 others(42): Show c.5994_*5995insAAAAAAAAAAATATATATATATATATATATA	DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding		4523		chrX	TogoVar
DNASE1L1_chrX_154396236_154414254	154396712	A A	ATATATAT others(24): Show ATATATATATATATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0061 a0001c0002t0003g0061	1	157	0.0064	31	c.59 others(42): Show c.5994_*5995insAAAAAAAAAAAAAAAAAAATATATATATATA	DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding		4523		chrX	TogoVar
DNM3_chr1_171836498_172417717	172009049	T T	TTATATAA others(24): Show TTATATAATATATTATATGTATTTATATATTA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp1 HG02451.hp1 others(4): Show HG01109.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG03486.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0002t0010 a0001c0002t0021 others(1): Show a0001c0002t0001 a0001c0002t0010 a0001c0002t0021 a0001c0008t0026	a0001c0002t0001g0094 a0001c0002t0001g0111 a0001c0002t0001g0135 others(4): Show a0001c0002t0001g0094 a0001c0002t0001g0111 a0001c0002t0001g0135 a0001c0002t0010g0133 a0001c0002t0010g0134 a0001c0002t0021g0077 a0001c0008t0026g0113	7	134	0.0522	31	c.589 others(50): Show c.589+19907_589+19937dupAATATATTATATGTATTTATATATTA TATAT	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172106847	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0122 a0001c0002t0005g0122	1	12	0.0833	31	c.154 others(52): Show c.1545+13996_1545+13997insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	13/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172283780	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0129 a0001c0002t0002g0129	1	88	0.0114	31	c.177 others(52): Show c.1770-24945_1770-24944insAAAAAAAAAAAAAAAAAAAAAAAG AAAGAAA	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172304206	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0067 a0001c0002t0005g0067	1	73	0.0137	31	c.177 others(50): Show c.1770-4506_1770-4505insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNMBP_chr10_99870577_100014947	99879101	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0131 a0003c0005t0004g0131	1	239	0.0042	31	c.454 others(48): Show c.4548+709_4548+710insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	DNMBP	ENSG00000107554.17	transcript	ENST00000324109.9	protein_coding	16/16			chr10	TogoVar
DNPEP_chr2_219367043_219392912	219389848	A A	AAATAAAT others(24): Show AAATAAATAAATAAATAAATAAATAAATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	368	0.0027	31	c.-20 others(42): Show c.-2055_-2054insATTTATTTATTTATTTATTTATTTATTTATT	DNPEP	ENSG00000123992.20	transcript	ENST00000273075.9	protein_coding		1937		chr2	TogoVar
DOCK10_chr2_224760090_225047468	224921112	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0126 a0002c0002t0001g0126	1	42	0.0238	31	c.244 others(48): Show c.244-4329_244-4328insATATATATATATATATATTTTTTTTTTT TTT	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	2/55			chr2	TogoVar
DOCK10_chr2_224760090_225047468	224921112	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	42	0.0238	31	c.244 others(48): Show c.244-4329_244-4328insATATATATATATATATATATTTTTTTTT TTT	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	2/55			chr2	TogoVar
DOCK10_chr2_224760090_225047468	224921112	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0111 a0002c0002t0001g0111	1	42	0.0238	31	c.244 others(48): Show c.244-4329_244-4328insATATATATATATATATATATATATTTTT TTT	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	2/55			chr2	TogoVar
DOCK10_chr2_224760090_225047468	224921112	A A	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG03688.hp1 HG01257.hp1 HG03688.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0014 a0001c0006t0004 a0001c0004t0014 a0001c0006t0004	a0001c0004t0014g0092 a0001c0006t0004g0014 a0001c0004t0014g0092 a0001c0006t0004g0014	2	43	0.0465	31	c.244 others(48): Show c.244-4329_244-4328insATATATATATATATATATATATATATTT TTT	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	2/55			chr2	TogoVar
DOCK10_chr2_224760090_225047468	224921112	A A	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0160 a0002c0002t0001g0160	1	42	0.0238	31	c.244 others(48): Show c.244-4329_244-4328insATATATATATATATATATATATATATAT TTT	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	2/55			chr2	TogoVar
DOCK10_chr2_224760090_225047468	224921112	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03225.hp1 HG02622.hp2 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0100 a0002c0002t0001g0060 a0002c0002t0001g0100	2	43	0.0465	31	c.244 others(48): Show c.244-4329_244-4328insATATATATATATATATATATATATATAT ATA	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	2/55			chr2	TogoVar
DOCK11_chrX_118490815_118691147	118544645	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0112 a0001c0003t0002g0113 a0001c0003t0002g0112 a0001c0003t0002g0113	2	46	0.0435	31	c.393 others(46): Show c.393-676_393-646dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	DOCK11	ENSG00000147251.16	transcript	ENST00000276202.9	protein_coding	4/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
DOCK1_chr10_126900428_127457516	126947275	G G	GTGGTGAT others(24): Show GTGGTGATGGTGGTGGTTGGTAGTATTACTGT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0075 a0001c0008t0002g0075	1	133	0.0075	31	c.47- others(48): Show c.47-23421_47-23391dupATGGTGGTGGTTGGTAGTATTACTGTTG GTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947349	G G	GTGGTGGT others(24): Show GTGGTGGTTGGTAGTATTACTGTTGGTGATGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0003 a0003	a0003c0019 a0003c0019	a0003c0019t0004 a0003c0019t0004	a0003c0019t0004g0119 a0003c0019t0004g0119	1	133	0.0075	31	c.47- others(48): Show c.47-23326_47-23325insATGATGGTGGTTGGTAGTATTACTGTTG GTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947417	G G	GTGGTAGT others(24): Show GTGGTAGTTGGTAGTATTACTGTTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0065 a0001c0065	a0001c0065t0001 a0001c0065t0001	a0001c0065t0001g0045 a0001c0065t0001g0045	1	126	0.0079	31	c.47- others(48): Show c.47-23281_47-23280insAGTTGGTAGTATTACTGTTGGTGGTGAT GGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar

Search by Variant

Search

Search Results