Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ZNF804B_chr7_88754700_89343528	88877013	T T	TATATAAT others(39): Show TATATAATATATATATATATATATATATTTTTTTTTTTGAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0020 a0005c0009t0020	a0005c0009t0020g0151 a0005c0009t0020g0151	1	166	0.0060	46	c.108 others(67): Show c.108+116934_108+116935insATATATATATATATATATATATTT TTTTTTTTGAAAAAAAAATATA	ZNF804B	ENSG00000182348.7	transcript	ENST00000333190.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF804B_chr7_88754700_89343528	88877013	T T	TATATAAT others(39): Show TATATAATATATATATATATATATATTTTTTTTTTTTGAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0155 a0001c0001t0010g0155	1	166	0.0060	46	c.108 others(67): Show c.108+116934_108+116935insATATATATATATATATATATTTTT TTTTTTTGAAAAAAAAAATATA	ZNF804B	ENSG00000182348.7	transcript	ENST00000333190.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF813_chr19_53462733_53501255	53470160	T T	TCCTTCCT others(39): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18944.hp1 NA18956.hp2 others(7): Show HG02165.hp1 NA18944.hp1 NA18956.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18986.hp1 NA18993.hp1 NA18998.hp1 NA19011.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0014	a0001c0001 a0003c0003 a0004c0004 others(1): Show a0001c0001 a0003c0003 a0004c0004 a0014c0017	a0001c0001t0002 a0003c0003t0004 a0004c0004t0011 others(1): Show a0001c0001t0002 a0003c0003t0004 a0004c0004t0011 a0014c0017t0004	a0001c0001t0002g0099 a0003c0003t0004g0003 a0003c0003t0004g0009 others(5): Show a0001c0001t0002g0099 a0003c0003t0004g0003 a0003c0003t0004g0009 a0003c0003t0004g0062 a0003c0003t0004g0063 a0003c0003t0004g0098 a0004c0004t0011g0100 a0014c0017t0004g0009	10	430	0.0233	46	c.-74 others(63): Show c.-74+2371_-74+2372insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCC	ZNF813	ENSG00000198346.11	transcript	ENST00000396403.9	protein_coding	1/3			chr19	TogoVar
ZNF85_chr19_20918251_20955697	20952685	G G	GCCCCCAC others(39): Show GCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG01123.hp1 others(19): Show HG00140.hp1 HG00323.hp1 HG01123.hp1 HG01496.hp1 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG02615.hp2 HG02735.hp2 HG02818.hp1 HG03041.hp2 HG03239.hp2 HG03453.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03710.hp1 HG04115.hp2 NA18955.hp1 NA19002.hp1 NA19043.hp2 NA21309.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0009 a0002c0002 a0004c0009	a0002c0002t0003 a0002c0002t0005 a0004c0009t0005 a0002c0002t0003 a0002c0002t0005 a0004c0009t0005	a0002c0002t0003g0022 a0002c0002t0003g0049 a0002c0002t0003g0050 others(14): Show a0002c0002t0003g0022 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0256 a0002c0002t0003g0257 a0002c0002t0003g0258 a0002c0002t0003g0259 a0002c0002t0003g0260 a0002c0002t0003g0261 a0002c0002t0003g0262 a0002c0002t0003g0263 a0002c0002t0003g0264 a0002c0002t0003g0265 a0002c0002t0005g0266 a0002c0002t0005g0267 a0004c0009t0005g0024 a0004c0009t0005g0054	22	383	0.0574	46	c.23 others(57): Show c.2383_*2384insCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGCTGA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		1989		chr19	TogoVar
ZP3_chr7_76419950_76447069	76423007	A A	AAGAGAGA others(39): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0383 a0001c0002t0001g0383	1	424	0.0024	46	c.-19 others(57): Show c.-1958_-1957insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAG AGAGAGAGAGAG	ZP3	ENSG00000188372.15	transcript	ENST00000394857.8	protein_coding		1942		chr7	TogoVar
ZSCAN2_chr15_84596009_84628716	84609273	C C	CTATGATA others(39): Show CTATGATATATATCATATATGATATATGAGATATATGATATATCTCA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02630.hp2 HG02896.hp2 others(5): Show HG02258.hp2 HG02630.hp2 HG02896.hp2 HG02897.hp1 HG03130.hp2 HG03209.hp2 HG03486.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0058 a0001c0001t0001g0059 others(4): Show a0001c0001t0001g0024 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0072	8	408	0.0196	46	c.406 others(63): Show c.406+4953_406+4998dupCATATATGATATATGAGATATATGATAT ATCTCATATGATATATAT	ZSCAN2	ENSG00000176371.14	transcript	ENST00000546148.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr15	TogoVar
ZSWIM5_chr1_45011399_45211605	45044746	A A	AAAAAAAA others(39): Show AAAAAAAAAATATATATATATATATATATATATATAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	234	0.0043	46	c.143 others(65): Show c.1433-1352_1433-1351insATATATATATTTATATATATATATAT ATATATATATATTTTTTTTT	ZSWIM5	ENSG00000162415.7	transcript	ENST00000359600.6	protein_coding	5/13			chr1	TogoVar
ZWILCH_chr15_66500326_66555130	66509840	T T	TTTCATGA others(39): Show TTTCATGAATGAGAAGCTGTAATATCTATAATTATGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG03688.hp1 HG01515.hp2 HG01517.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0356 a0001c0001t0003g0357 a0001c0001t0003g0358 a0001c0001t0003g0356 a0001c0001t0003g0357 a0001c0001t0003g0358	3	410	0.0073	46	c.105 others(61): Show c.105+948_105+949insTTCATGAATGAGAAGCTGTAATATCTATAA TTATGTGTGTGTGTGG	ZWILCH	ENSG00000174442.12	transcript	ENST00000307897.10	protein_coding	2/18			chr15	TogoVar
ZYG11B_chr1_52721453_52832336	52776229	A A	AAAAAAAA others(39): Show AAAAAAAAAAAATATATACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0050 a0001c0001t0009g0050	1	352	0.0028	46	c.952 others(63): Show c.952-3623_952-3622insAAAAAAAAAATATATACATATATATATA TATATATATATATATATA	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZYG11B_chr1_52721453_52832336	52776229	A A	AAAAAAAA others(39): Show AAAAAAAAAATATATACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0025 a0001c0001t0004g0025	1	352	0.0028	46	c.952 others(63): Show c.952-3623_952-3622insAAAAAAAATATATACATATATATATATA TATATATATATATATATA	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZYG11B_chr1_52721453_52832336	52776229	A A	AAAAAAAA others(39): Show AAAAAAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0137 a0001c0001t0027g0137	1	352	0.0028	46	c.952 others(63): Show c.952-3623_952-3622insAAAAAAAATATATATATATATATATATA TATATATATATATATATA	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AATK_chr17_81112295_81171221	81140931	G G	GGCCGTGA others(40): Show GGCCGTGAGCCGTGGGGACCGTGAGCCGTGGGGCCGTGGGGACTGTGA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0010 a0006c0012t0010	a0006c0012t0010g0106 a0006c0012t0010g0106	1	368	0.0027	47	c.56- others(62): Show c.56-6431_56-6430insTCACAGTCCCCACGGCCCCACGGCTCACGG TCCCCACGGCTCACGGC	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	1/13			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69177969	A A	ATATATAT others(40): Show ATATATATATATATATATATATGTTATATATATATATATATATATGTT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA19001.hp1 NA19078.hp1 NA18963.hp2 NA19001.hp1 NA19078.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0025 a0002c0002t0001g0124 a0002c0002t0001g0022 a0002c0002t0001g0025 a0002c0002t0001g0124	3	348	0.0086	47	c.277 others(66): Show c.2770-2457_2770-2456insAACATATATATATATATATATATAAC ATATATATATATATATATATA	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	22/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69177971	A A	ATATATAT others(40): Show ATATATATATATATATATATGTTATATATATATATATATATATATGTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0024 a0024	a0024c0027 a0024c0027	a0024c0027t0001 a0024c0027t0001	a0024c0027t0001g0227 a0024c0027t0001g0227	1	348	0.0029	47	c.277 others(66): Show c.2770-2459_2770-2458insAACATATATATATATATATATATATA ACATATATATATATATATATA	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	22/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69177971	A A	ATATATAT others(40): Show ATATATATATATATATATATGTTATATATATATATATATATATGTTAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00733.hp1 others(23): Show HG00438.hp1 HG00438.hp2 HG00733.hp1 HG01099.hp1 HG01192.hp2 HG01257.hp1 HG01258.hp2 HG01515.hp2 HG02083.hp1 HG02129.hp2 HG03654.hp1 HG03688.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 NA18971.hp1 NA18973.hp2 NA18988.hp1 NA18994.hp2 NA19002.hp1 NA19004.hp2 NA19056.hp1 NA19056.hp2 NA19065.hp2 NA19066.hp1 NA19087.hp1	a0002 a0009 a0023 a0002 a0009 a0023	a0002c0002 a0002c0015 a0009c0018 others(1): Show a0002c0002 a0002c0015 a0009c0018 a0023c0026	a0002c0002t0001 a0002c0002t0005 a0002c0015t0001 others(2): Show a0002c0002t0001 a0002c0002t0005 a0002c0015t0001 a0009c0018t0001 a0023c0026t0001	a0002c0002t0001g0014 a0002c0002t0001g0019 a0002c0002t0001g0023 others(22): Show a0002c0002t0001g0014 a0002c0002t0001g0019 a0002c0002t0001g0023 a0002c0002t0001g0046 a0002c0002t0001g0051 a0002c0002t0001g0059 a0002c0002t0001g0061 a0002c0002t0001g0065 a0002c0002t0001g0082 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0116 a0002c0002t0001g0119 a0002c0002t0001g0138 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0253 a0002c0002t0001g0277 a0002c0002t0005g0312 a0002c0002t0005g0313 a0002c0002t0005g0314 a0002c0002t0005g0315 a0002c0015t0001g0003 a0009c0018t0001g0102 a0023c0026t0001g0070	26	348	0.0747	47	c.277 others(66): Show c.2770-2459_2770-2458insATAACATATATATATATATATATATA ACATATATATATATATATATA	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	22/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69177973	A A	AAATATAT others(40): Show AAATATATATATATATATGTTATATATATATATATATATATGTTATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03017.hp1 HG01106.hp1 HG03017.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0097 a0002c0002t0001g0075 a0002c0002t0001g0097	2	348	0.0058	47	c.277 others(66): Show c.2770-2461_2770-2460insATATAACATATATATATATATATATA TAACATATATATATATATATT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	22/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69177973	A A	ATATATAT others(40): Show ATATATATATATATATATGTTATATATATATATATATATATGTTATAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA19090.hp1 HG03704.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0099 a0002c0002t0001g0278 a0002c0002t0001g0099 a0002c0002t0001g0278	2	348	0.0058	47	c.277 others(66): Show c.2770-2461_2770-2460insATATAACATATATATATATATATATA TAACATATATATATATATATA	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	22/38			chr17	TogoVar
ABCA13_chr7_48166458_48652497	48500459	T T	TTTTAAGT others(40): Show TTTTAAGTAATGGATCCAATTTTTAAGTAACTCCAAGTTTAAATCCAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0074 a0074	a0074c0080 a0074c0080	a0074c0080t0013 a0074c0080t0013	a0074c0080t0013g0158 a0074c0080t0013g0158	1	178	0.0056	47	c.132 others(68): Show c.13292-5876_13292-5875insTTAAGTAATGGATCCAATTTTTAA GTAACTCCAAGTTTAAATCCAAT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	48/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA5_chr17_69239311_69332133	69263697	C C	CTTTTTTT others(40): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0321 a0001c0004t0014g0321	1	350	0.0029	47	c.331 others(66): Show c.3315+1037_3315+1038insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	24/38			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68887925	T T	TATATCCA others(40): Show TATATCCATATATATATTATATATGGATATATATGGATATATATATTA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02683.hp2 NA19063.hp2 HG00438.hp1 HG02683.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0179 a0001c0002t0001g0242 a0001c0002t0001g0040 a0001c0002t0001g0179 a0001c0002t0001g0242	3	274	0.0110	47	c.314 others(64): Show c.3145-420_3145-419insTAATATATATATCCATATATATCCATAT ATAATATATATATGGATAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	24/39			chr17	TogoVar
ABCC1_chr16_15944616_16148053	15999836	C C	CCTCTCTC others(40): Show CCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0101 a0001c0001t0005g0101	1	249	0.0040	47	c.49- others(62): Show c.49-7980_49-7979insCTCTCTCTCTCTCTCTCTCTCTCTGTCTCT TTCTTTCTTTCTTTCTT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30			chr16	TogoVar
ABCC4_chr13_95014835_95306451	95244661	G G	GGAAGGAA others(40): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0005 a0001c0026t0005	a0001c0026t0005g0050 a0001c0026t0005g0050	1	248	0.0040	47	c.306 others(64): Show c.306+2313_306+2314insTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABCG1_chr21_42214140_42302244	42300994	G G	GGTATTTC others(40): Show GGTATTTCTGCCTATGTCATGTTCTATTTATTATTTTTTGTATATTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0277	1	354	0.0028	47	c.46 others(58): Show c.4602_*4603insGTATTTCTGCCTATGTCATGTTCTATTTATTATT TTTTGTATATTGT	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding		3751		chr21	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0205 a0001c0002t0007g0205	1	316	0.0032	47	c.422 others(62): Show c.422+943_422+944insAAAAAAATATATATATATATATATATATAT ATATATATATATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABRAXAS1_chr4_83454517_83490100	83465299	C C	CAAAAAAA others(40): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	356	0.0028	47	c.682 others(64): Show c.682-1692_682-1691insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	ABRAXAS1	ENSG00000163322.14	transcript	ENST00000321945.12	protein_coding	7/8			chr4	TogoVar
ACACA_chr17_37079992_37411836	37390311	T T	TATATATA others(40): Show TATATATATATTTTATATATATATATATTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	299	0.0033	47	c.38+ others(64): Show c.38+15950_38+15951insTATATATATATATATATATAATATATAT ATATATAAAATATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACAT2_chr6_159757045_159784112	159769148	T T	TGGGGGGG others(40): Show TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0117 a0002c0003t0001g0117	1	404	0.0025	47	c.490 others(62): Show c.490+521_490+522insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGG	ACAT2	ENSG00000120437.9	transcript	ENST00000367048.5	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
ACCS_chr11_44061270_44089237	44074773	T T	TTTCTTTC others(40): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0212 a0003c0002t0002g0212	1	438	0.0023	47	c.489 others(60): Show c.489+94_489+95insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTT	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACIN1_chr14_23053564_23100136	23096781	T T	TCGAGGCC others(40): Show TCGAGGCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0001 a0002c0003t0001g0001	1	350	0.0029	47	c.-16 others(58): Show c.-1670_-1669insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGTGGGGCCTCG	ACIN1	ENSG00000100813.15	transcript	ENST00000605057.6	protein_coding		1646		chr14	TogoVar
ACOT11_chr1_54543228_54615329	54561917	C C	CCCCCCAC others(40): Show CCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGAGGGGCTGA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0007 a0002c0030t0007	a0002c0030t0007g0065 a0002c0030t0007g0065	1	388	0.0026	47	c.33+ others(64): Show c.33+13580_33+13581insACCTCCCTCCCGGATGGGGCGGCTGGCC GGGTGAGGGGCTGACCCCC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACSL3_chr2_222856036_222949639	222897106	C C	CCCCCCAC others(40): Show CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0020 a0002c0003t0020	a0002c0003t0020g0012 a0002c0003t0020g0012	1	252	0.0040	47	c.-14 others(66): Show c.-147-3563_-147-3562insACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGGGGGCTGACCCCC	ACSL3	ENSG00000123983.15	transcript	ENST00000357430.8	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AAATATAT others(40): Show AAATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	364	0.0028	47	c.159 others(64): Show c.1593+781_1593+782insATATATATATATATATATATATATATAT ATATATATATATATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSM2B_chr16_20531226_20581367	20566645	C C	CTATATAT others(40): Show CTATATATACTATATATACTATATATACTATATATACTATATATAGTA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp2 HG01074.hp1 others(14): Show HG00597.hp2 HG00673.hp2 HG01074.hp1 HG01168.hp2 HG01256.hp2 HG01943.hp2 HG02027.hp1 HG02056.hp2 HG02132.hp2 HG02148.hp2 HG02155.hp1 HG02602.hp2 NA18966.hp2 NA18990.hp1 NA19007.hp1 NA19062.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0008 a0001c0004t0002 others(1): Show a0001c0001t0003 a0001c0001t0008 a0001c0004t0002 a0001c0004t0007	a0001c0001t0003g0014 a0001c0001t0003g0124 a0001c0001t0003g0131 others(12): Show a0001c0001t0003g0014 a0001c0001t0003g0124 a0001c0001t0003g0131 a0001c0001t0008g0335 a0001c0004t0002g0013 a0001c0004t0002g0127 a0001c0004t0002g0128 a0001c0004t0002g0129 a0001c0004t0002g0136 a0001c0004t0002g0137 a0001c0004t0002g0143 a0001c0004t0002g0144 a0001c0004t0002g0149 a0001c0004t0002g0150 a0001c0004t0007g0016	17	388	0.0438	47	c.-8- others(62): Show c.-8-1793_-8-1792insTACTATATATAGTATATATAGTATATATAG TATATATAGTATATATA	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	1/13			chr16	TogoVar
ACSM2B_chr16_20531226_20581367	20566645	C C	CTATATAT others(40): Show CTATATATACTATATATAGTATATATACTACATATAGTATATATAGTA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0016 a0005c0016t0016	a0005c0016t0016g0326 a0005c0016t0016g0326	1	388	0.0026	47	c.-8- others(62): Show c.-8-1793_-8-1792insTACTATATATACTATATGTAGTATATATAC TATATATAGTATATATA	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	1/13			chr16	TogoVar
ACSS3_chr12_81073079_81266210	81213835	T T	TCTCTCTT others(40): Show TCTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18965.hp2 NA18968.hp2 others(4): Show NA18943.hp2 NA18965.hp2 NA18968.hp2 NA18975.hp2 NA18983.hp1 NA19077.hp1 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0089 a0001c0002t0002g0178 a0001c0002t0002g0179 others(4): Show a0001c0002t0002g0089 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0190	7	290	0.0241	47	c.135 others(66): Show c.1355-3062_1355-3061insCTTCTCTTCTCTTCTCTTCTCTTCTC TTCTCTTCTCTTCTCTCCTCT	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACTRT3_chr3_169761921_169774561	169770629	C C	CATAAATA others(40): Show CATAAATATAAATATATAAAAATTTATATTTATATATCATAAATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02451.hp2 HG02572.hp2 HG02132.hp1 HG02451.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0004t0001 a0002c0002t0001 a0002c0004t0001	a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0004t0001g0012 a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0004t0001g0012	3	418	0.0072	47	c.-11 others(58): Show c.-1110_-1109insTTATATTTATGATATATAAATATAAATTTTTATA TATTTATATTTAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1069		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770629	C C	CGTAAATA others(40): Show CGTAAATATAAATATATAAAAATTTATATTTATATATCGTAAATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02922.hp2 HG02976.hp1 others(1): Show HG01243.hp2 HG02922.hp2 HG02976.hp1 HG03130.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0009 a0003c0003t0001g0009	4	418	0.0096	47	c.-11 others(58): Show c.-1110_-1109insTTATATTTACGATATATAAATATAAATTTTTATA TATTTATATTTAC	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1069		chr3	TogoVar
ADA2_chr22_17173790_17224435	17188868	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	408	0.0025	47	c.973 others(62): Show c.973-422_973-421insATATATATATATATATATATTTTTTTTTTT TTTTTTTTTTTTTTTTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar
ADAM22_chr7_87929251_88207889	88039464	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0212 a0002c0002t0001g0212	1	230	0.0044	47	c.324 others(66): Show c.324-36161_324-36160insAAAAAAAAAAAAAAAAATATATATAT ATATATATATATATATATATA	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAMTS18_chr16_77277128_77440034	77365045	G G	GCAGTGAG others(40): Show GCAGTGAGCCAAGATCACCCCACTGCACTCCATAAGGAAGTCTCTCCT	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0006 a0013c0014t0006	a0013c0014t0006g0066 a0013c0014t0006g0066	1	326	0.0031	47	c.779 others(62): Show c.779-665_779-664insAGGAGAGACTTCCTTATGGAGTGCAGTGGG GTGATCTTGGCTCACTG	ADAMTS18	ENSG00000140873.16	transcript	ENST00000282849.10	protein_coding	4/22			chr16	TogoVar
ADAMTS2_chr5_179105853_179350461	179278050	C C	CCCCCCAC others(40): Show CCCCCCACCCGAGACCAAAGGCTGACACCCCCCAGAGACCAAAGGCTG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02155.hp2 HG02280.hp1 others(8): Show HG01934.hp2 HG02155.hp2 HG02280.hp1 HG02630.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA19005.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0017	a0001c0001 a0001c0004 a0002c0002 others(4): Show a0001c0001 a0001c0004 a0002c0002 a0002c0058 a0003c0003 a0006c0061 a0017c0027	a0001c0001t0001 a0001c0001t0004 a0001c0004t0002 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0002 a0001c0004t0004 a0002c0002t0004 a0002c0058t0002 a0003c0003t0001 a0003c0003t0004 a0006c0061t0003 a0017c0027t0004	a0001c0001t0001g0007 a0001c0001t0004g0033 a0001c0004t0002g0179 others(8): Show a0001c0001t0001g0007 a0001c0001t0004g0033 a0001c0004t0002g0179 a0001c0004t0004g0187 a0002c0002t0004g0006 a0002c0002t0004g0123 a0002c0058t0002g0068 a0003c0003t0001g0254 a0003c0003t0004g0253 a0006c0061t0003g0039 a0017c0027t0004g0040	11	276	0.0399	47	c.535 others(64): Show c.535-4987_535-4986insCAGCCTTTGGTCTCTGGGGGGTGTCAGC CTTTGGTCTCGGGTGGGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179278050	C C	CCCCCCCC others(40): Show CCCCCCCCCCGAGACCAAAGGCTGACACCCCCCAGAGACCAAAGGCTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0008 a0001c0014t0008	a0001c0014t0008g0065 a0001c0014t0008g0065	1	276	0.0036	47	c.535 others(64): Show c.535-4987_535-4986insCAGCCTTTGGTCTCTGGGGGGTGTCAGC CTTTGGTCTCGGGGGGGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179278166	C C	CCCCCGTG others(40): Show CCCCCGTGAGACCAAAGGCTGACACCCCCCAGAGACCAAAGGCTGACA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0069 a0001c0069	a0001c0069t0002 a0001c0069t0002	a0001c0069t0002g0046 a0001c0069t0002g0046	1	276	0.0036	47	c.535 others(64): Show c.535-5103_535-5102insTGTCAGCCTTTGGTCTCTGGGGGGTGTC AGCCTTTGGTCTCACGGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS3_chr4_72275969_72574221	72456132	A A	ATATATAC others(40): Show ATATATACTGTATATACTATATATATTTTATATATAGTATATATACTG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp1 HG02886.hp1 others(4): Show HG02559.hp2 HG02622.hp1 HG02886.hp1 HG03041.hp1 NA18965.hp2 NA18974.hp1 NA18995.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0003t0001 a0001c0003t0007 a0002c0002t0004	a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0003g0062 others(4): Show a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0003g0062 a0001c0001t0004g0142 a0001c0003t0001g0168 a0001c0003t0007g0094 a0002c0002t0004g0102	7	182	0.0385	47	c.505 others(66): Show c.505-41162_505-41161insCAGTATATATACTATATATAAAATAT ATATAGTATATACAGTATATA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72530056	A A	AATATATA others(40): Show AATATATAATATATTATATTTATATATAATATATAATATATTATATTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02809.hp2 HG02970.hp1 others(2): Show HG01891.hp2 HG02809.hp2 HG02970.hp1 HG03540.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0015 others(1): Show a0001c0001 a0001c0003 a0001c0015 a0003c0008	a0001c0001t0001 a0001c0003t0001 a0001c0015t0009 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0015t0009 a0003c0008t0006	a0001c0001t0001g0152 a0001c0003t0001g0149 a0001c0003t0001g0150 others(2): Show a0001c0001t0001g0152 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0015t0009g0086 a0003c0008t0006g0158	5	182	0.0275	47	c.504 others(66): Show c.504+18421_504+18422insAAATATAATATATTATATATTATATA TAAATATAATATATTATATAT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTSL1_chr9_18469153_18915950	18688689	A A	AAAAAAAA others(40): Show AAAAAAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0003 a0001c0023t0003	a0001c0023t0003g0186 a0001c0023t0003g0186	1	218	0.0046	47	c.157 others(66): Show c.1574+3890_1574+3891insAAAAAAATATATATATATATATATAT ATATATATATATATATATATA	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAP1_chr7_892900_959680	905525	A A	AGAAAGGA others(40): Show AGAAAGGAGAAAGGGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	14	0.0714	47	c.389 others(62): Show c.389-354_389-353insCCTTTCTCCTTTCTCCTTTCTCCTTTCTCC TTTCCCTTTCTCCTTTC	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	4/10			chr7	TogoVar
ADAP1_chr7_892900_959680	905550	G G	GGAGAAAG others(40): Show GGAGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	14	0.0714	47	c.389 others(62): Show c.389-379_389-378insTTCTCCTTTCTCCTTTCTCCTTTCTCCTTT CTCCTTTCTCCTTTCTC	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	4/10			chr7	TogoVar
ADAP1_chr7_892900_959680	906359	G G	GGAGAAAG others(40): Show GGAGAAAGGAGAAAGGAGAAAGGGAAAGGAGAAAGGAGAAAGGAGAAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	14	0.0714	47	c.389 others(64): Show c.389-1188_389-1187insTTTCTCCTTTCTCCTTTCTCCTTTCCCT TTCTCCTTTCTCCTTTCTC	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	4/10			chr7	TogoVar
ADAP1_chr7_892900_959680	937184	G G	GGGATTTG others(40): Show GGGATTTGGTCATGCCGGGCCTCGGATTTGGGGGTCATGCCGGGCCTC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	14	0.0714	47	c.83- others(62): Show c.83-1680_83-1679insGAGGCCCGGCATGACCCCCAAATCCGAGGC CCGGCATGACCAAATCC	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	1/10			chr7	TogoVar

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