Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

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
ACMSD_chr2_134833616_134907034	134834851	G G	GGGAGGGA others(41): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAAGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA19072.hp1 NA19072.hp2 NA18942.hp1 NA19072.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0164 a0001c0001t0001g0261 a0001c0001t0001g0141 a0001c0001t0001g0164 a0001c0001t0001g0261	3	382	0.0079	48	c.-38 others(59): Show c.-3832_-3831insGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AAAGAAGGAAGGAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3764		chr2	TogoVar
ACOT11_chr1_54543228_54615329	54561917	C C	CCCCCCCA others(41): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG00735.hp1 others(30): Show HG00558.hp2 HG00609.hp2 HG00735.hp1 HG00741.hp1 HG01358.hp1 HG02004.hp1 HG02040.hp2 HG02145.hp2 HG02300.hp2 HG02523.hp1 HG02698.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG03130.hp2 HG03239.hp1 HG03516.hp1 HG03710.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 NA18941.hp1 NA18962.hp1 NA18963.hp2 NA18994.hp2 NA19009.hp2 NA19012.hp2 NA19055.hp1 NA19057.hp1 NA19068.hp1 NA19088.hp1 NA19240.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0008 a0012	a0001c0001 a0002c0002 a0002c0009 others(5): Show a0001c0001 a0002c0002 a0002c0009 a0002c0019 a0004c0004 a0005c0005 a0008c0016 a0012c0021	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0002c0002t0004 a0002c0009t0007 a0002c0019t0003 a0004c0004t0012 a0005c0005t0003 a0008c0016t0004 a0012c0021t0002	a0001c0001t0001g0027 a0001c0001t0001g0103 a0001c0001t0001g0289 others(30): Show a0001c0001t0001g0027 a0001c0001t0001g0103 a0001c0001t0001g0289 a0001c0001t0002g0301 a0001c0001t0002g0311 a0002c0002t0003g0072 a0002c0002t0003g0175 a0002c0002t0004g0017 a0002c0002t0004g0088 a0002c0002t0004g0089 a0002c0002t0004g0094 a0002c0002t0004g0095 a0002c0002t0004g0097 a0002c0002t0004g0098 a0002c0002t0004g0099 a0002c0002t0004g0100 a0002c0002t0004g0101 a0002c0002t0004g0104 a0002c0002t0004g0124 a0002c0002t0004g0152 a0002c0002t0004g0190 a0002c0002t0004g0214 a0002c0002t0004g0269 a0002c0002t0004g0379 a0002c0002t0004g0381 a0002c0009t0007g0067 a0002c0009t0007g0068 a0002c0019t0003g0031 a0004c0004t0012g0102 a0005c0005t0003g0026 a0008c0016t0004g0096 a0008c0016t0004g0297 a0012c0021t0002g0313	33	388	0.0851	48	c.33+ others(65): Show c.33+13581_33+13582insACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54561917	C C	CCCCCCCA others(41): Show CCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGAGGGGCTGA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0254 a0004c0004t0004g0254	1	388	0.0026	48	c.33+ others(65): Show c.33+13581_33+13582insACCTCCCTCCCGGATGGGGCGGCTGGCC GGGTGAGGGGCTGACCCCCC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54562095	C C	CCCCCCAA others(41): Show CCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00544.hp2 others(10): Show HG00140.hp2 HG00323.hp1 HG00544.hp2 HG01517.hp2 HG02055.hp2 HG03017.hp2 HG03491.hp1 NA18970.hp2 NA18974.hp2 NA19007.hp2 NA19079.hp2 NA19085.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0008 a0001c0006t0010 a0001c0001t0002 a0001c0006t0008 a0001c0006t0010	a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 others(10): Show a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0216 a0001c0006t0008g0003 a0001c0006t0008g0005 a0001c0006t0008g0146 a0001c0006t0008g0147 a0001c0006t0008g0148 a0001c0006t0008g0321 a0001c0006t0008g0343 a0001c0006t0010g0012 a0001c0006t0010g0200	13	388	0.0335	48	c.33+ others(65): Show c.33+13758_33+13759insAACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54596225	T T	TCTCCAGA others(41): Show TCTCCAGACCTTGGCTCAGGCCACCCTCAACTTCCCCTCCTGTCTGCCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0003 a0001c0032t0003	a0001c0032t0003g0066 a0001c0032t0003g0066	1	388	0.0026	48	c.608 others(64): Show c.608-1032_608-985dupTCCAGACCTTGGCTCAGGCCACCCTCAAC TTCCCCTCCTGTCTGCCCC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT12_chr5_81324996_81399134	81327174	T T	TATATATA others(41): Show TATATATATACACACATATATATAATATATATATACACACATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 NA19030.hp2 HG02572.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0144 a0001c0001t0005g0158 a0001c0001t0005g0144 a0001c0001t0005g0158	2	278	0.0072	48	c.32 others(59): Show c.3219_*3220insTATATATATGTGTGTATATATATATTATATATAT GTGTGTATATATAT	ACOT12	ENSG00000172497.9	transcript	ENST00000307624.8	protein_coding		2821		chr5	TogoVar
ACOXL_chr2_110727573_111123548	111120979	T T	TGCCGCTG others(41): Show TGCCGCTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	150	0.0067	48	c.31 others(59): Show c.3163_*3164insGCCGCTGCCGCCGCCGCCGCCGCCGCCGCCGCCG CCGCCGCCGCCGCC	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding		2432		chr2	TogoVar
ACSF2_chr17_50421218_50479837	50476078	C C	CCAGCGCG others(41): Show CCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCTGCCCCCTTACCTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02895.hp1 HG01167.hp2 HG01169.hp1 HG02895.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0012 a0002c0004t0002g0040 a0002c0004t0002g0045 a0002c0004t0002g0012 a0002c0004t0002g0040 a0002c0004t0002g0045	3	320	0.0094	48	c.15 others(59): Show c.1526_*1527insCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCT GCCCCCTTACCTCG	ACSF2	ENSG00000167107.13	transcript	ENST00000300441.9	protein_coding		1242		chr17	TogoVar
ACSF2_chr17_50421218_50479837	50476102	C C	CCAGCGCG others(41): Show CCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCTGCCCCCTTACCTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0156 a0001c0002t0002g0156	1	320	0.0031	48	c.15 others(59): Show c.1550_*1551insCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCT GCCCCCTTACCTCG	ACSF2	ENSG00000167107.13	transcript	ENST00000300441.9	protein_coding		1266		chr17	TogoVar
ACSF2_chr17_50421218_50479837	50476150	G G	GCAGCGCG others(41): Show GCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01099.hp1 others(24): Show HG01069.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01884.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02976.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG06807.hp2 NA19063.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0003c0005 a0004c0006	a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 a0002c0004t0002 a0003c0005t0002 a0004c0006t0002	a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0002t0002g0010 others(21): Show a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0002t0002g0010 a0001c0002t0002g0170 a0001c0002t0002g0184 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0003t0001g0259 a0002c0004t0002g0012 a0002c0004t0002g0041 a0002c0004t0002g0042 a0002c0004t0002g0043 a0002c0004t0002g0044 a0002c0004t0002g0046 a0002c0004t0002g0047 a0003c0005t0002g0021 a0003c0005t0002g0148 a0003c0005t0002g0149 a0003c0005t0002g0150 a0003c0005t0002g0151 a0003c0005t0002g0152 a0003c0005t0002g0153 a0004c0006t0002g0136 a0004c0006t0002g0137	27	320	0.0844	48	c.15 others(59): Show c.1598_*1599insCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCT GCCCCCTTACCTCC	ACSF2	ENSG00000167107.13	transcript	ENST00000300441.9	protein_coding		1314		chr17	TogoVar
ACSF2_chr17_50421218_50479837	50476222	G G	GCAGCGCG others(41): Show GCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCTGCCCCCTTACCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0042 a0002c0004t0002g0042	1	320	0.0031	48	c.16 others(59): Show c.1670_*1671insCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCT GCCCCCTTACCTCC	ACSF2	ENSG00000167107.13	transcript	ENST00000300441.9	protein_coding		1386		chr17	TogoVar
ACSF2_chr17_50421218_50479837	50476342	G G	GCAGCGCG others(41): Show GCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCTGCCTCCTTACCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0156 a0001c0002t0002g0156	1	320	0.0031	48	c.17 others(59): Show c.1790_*1791insCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCT GCCTCCTTACCTCC	ACSF2	ENSG00000167107.13	transcript	ENST00000300441.9	protein_coding		1506		chr17	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AAAAAAAA others(41): Show AAAAAAAATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	364	0.0028	48	c.159 others(65): Show c.1593+781_1593+782insAAAAAATATATATATATATATATATATA TATATATATATATATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	364	0.0028	48	c.159 others(65): Show c.1593+803_1593+804insTATATATATATATATATATATATATATA TATATATATATATATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACTN1_chr14_68869128_68984302	68950462	G G	GTGTGTGT others(41): Show GTGTGTGTGTGTGTGTGTGTGTATGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	284	0.0035	48	c.106 others(67): Show c.106-24791_106-24790insTATATATATATATATATATATATACA TACACACACACACACACACACA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	1/21			chr14	TogoVar
ACTN1_chr14_68869128_68984302	68950462	G G	GTGTGTGT others(41): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	284	0.0035	48	c.106 others(67): Show c.106-24791_106-24790insTATATATATATATATATATATACACA CACACACACACACACACACACA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	1/21			chr14	TogoVar
ACTN2_chr1_236681499_236769631	236737297	G G	GTATATAT others(41): Show GTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA19011.hp2 HG03669.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0251 a0001c0001t0001g0157 a0001c0001t0001g0251	2	344	0.0058	48	c.876 others(61): Show c.876+83_876+84insTATATATATATATATATATATATATATATATA TATATATATATATATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20			chr1	TogoVar
ACTN2_chr1_236681499_236769631	236737298	C C	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	344	0.0029	48	c.876 others(63): Show c.876+104_876+105insATATATATATATATATATATATATATATAT ATATATATATATATATAT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN4_chr19_38642649_38736589	38736026	G G	GGCGGGGC others(41): Show GGCGGGGCGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCAGGTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0276 a0001c0002t0001g0276	1	314	0.0032	48	c.65 others(59): Show c.6594_*6595insGCGGGGCGGGGCGGGGCGGGGCGGGGGTTCTGGG GGCGGGGCAGGTCA	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4438		chr19	TogoVar
ACVR1C_chr2_157521767_157633864	157554201	G G	GAGAAAGA others(41): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02080.hp1 HG02897.hp1 others(4): Show HG00544.hp1 HG02080.hp1 HG02897.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp2 NA18970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0002c0003t0002 a0002c0003t0005	a0001c0001t0001g0019 a0001c0002t0001g0030 a0001c0002t0001g0132 others(4): Show a0001c0001t0001g0019 a0001c0002t0001g0030 a0001c0002t0001g0132 a0001c0002t0004g0122 a0001c0002t0004g0125 a0002c0003t0002g0035 a0002c0003t0005g0077	7	216	0.0324	48	c.544 others(65): Show c.544+1844_544+1891dupTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157554268	A A	AAAGAAAG others(41): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0026 a0002c0003t0009g0026	1	216	0.0046	48	c.544 others(65): Show c.544+1824_544+1825insCCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ADA2_chr22_17173790_17224435	17184983	A A	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02559.hp1 HG01981.hp2 HG02559.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0017 a0001c0005 a0002c0017	a0001c0005t0004 a0002c0017t0014 a0001c0005t0004 a0002c0017t0014	a0001c0005t0004g0353 a0002c0017t0014g0086 a0001c0005t0004g0353 a0002c0017t0014g0086	2	408	0.0049	48	c.108 others(67): Show c.1082-2223_1082-2222insATATATATATATATATATATATATAT ATATATATATATATATATATAT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	7/9			chr22	TogoVar
ADA2_chr22_17173790_17224435	17188868	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0326 a0001c0004t0016g0326	1	408	0.0025	48	c.973 others(63): Show c.973-422_973-421insATATATATATATATATATATTTTTTTTTTT TTTTTTTTTTTTTTTTTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar
ADAM22_chr7_87929251_88207889	88039464	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0192 a0002c0011t0001g0192	1	230	0.0044	48	c.324 others(67): Show c.324-36161_324-36160insAAAAAAAAAAAAAAAAAATATATATA TATATATATATATATATATATA	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM9_chr8_38991973_39110261	39045473	C C	CACACACC others(41): Show CACACACCTATATGTGCGTGTGTGTACACACCTATATGTGCGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	332	0.0030	48	c.130 others(67): Show c.1302+3378_1302+3379insGTACACACCTATATGTGCGTGTGTGT ACACACCTATATGTGCGTGTGT	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAMTS12_chr5_33518535_33896990	33849151	A A	AATATATA others(41): Show AATATATATATGTATTGCATAGCAATATATATATGTATTGCATAGCAAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0147 a0005c0006t0001g0147	1	224	0.0045	48	c.489 others(67): Show c.489+31920_489+31967dupATTGCTATGCAATACATATATATATT GCTATGCAATACATATATATAT	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33849343	A A	AATATATA others(41): Show AATATATATATGTATTGAATAGCAATATATATATGTATTGCATAGCAAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0109 a0002c0009t0002g0109	1	224	0.0045	48	c.489 others(67): Show c.489+31775_489+31776insATTGCTATGCAATACATATATATATT GCTATTCAATACATATATATAT	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33849481	C C	CAGCAATA others(41): Show CAGCAATATATATATGTATTGCACAGCAATATATATATATGTATTGCAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0029 a0029	a0029c0041 a0029c0041	a0029c0041t0001 a0029c0041t0001	a0029c0041t0001g0214 a0029c0041t0001g0214	1	224	0.0045	48	c.489 others(67): Show c.489+31637_489+31638insATGCAATACATATATATATATTGCTG TGCAATACATATATATATTGCT	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33849481	C C	CAGCAATA others(41): Show CAGCAATATATATATGTATTGCATAGCAATATATATATATGTATTGCAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02723.hp1 NA18522.hp1 HG02145.hp1 HG02723.hp1 NA18522.hp1	a0003 a0011 a0003 a0011	a0003c0005 a0003c0043 a0011c0015 a0003c0005 a0003c0043 a0011c0015	a0003c0005t0007 a0003c0043t0010 a0011c0015t0003 a0003c0005t0007 a0003c0043t0010 a0011c0015t0003	a0003c0005t0007g0040 a0003c0043t0010g0042 a0011c0015t0003g0041 a0003c0005t0007g0040 a0003c0043t0010g0042 a0011c0015t0003g0041	3	224	0.0134	48	c.489 others(67): Show c.489+31637_489+31638insATGCAATACATATATATATATTGCTA TGCAATACATATATATATTGCT	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33849512	T T	TATATATA others(41): Show TATATATATATGTATTGCATAGCAATATATATATATGTATTGCATAGCA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp2 HG02622.hp2 others(2): Show HG01243.hp2 HG02055.hp2 HG02622.hp2 HG02809.hp2 HG03195.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0025	a0001c0001 a0003c0005 a0004c0007 others(2): Show a0001c0001 a0003c0005 a0004c0007 a0004c0019 a0025c0020	a0001c0001t0004 a0003c0005t0007 a0004c0007t0007 others(2): Show a0001c0001t0004 a0003c0005t0007 a0004c0007t0007 a0004c0019t0007 a0025c0020t0010	a0001c0001t0004g0053 a0003c0005t0007g0051 a0004c0007t0007g0052 others(2): Show a0001c0001t0004g0053 a0003c0005t0007g0051 a0004c0007t0007g0052 a0004c0019t0007g0205 a0025c0020t0010g0206	5	224	0.0223	48	c.489 others(67): Show c.489+31606_489+31607insTGCTATGCAATACATATATATATATT GCTATGCAATACATATATATAT	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS15_chr11_130443645_130481645	130470146	A A	ATATATAT others(41): Show ATATATATATATATATACACATGTATATATATATATATATATATACATG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0268 a0001c0001t0005g0268	1	398	0.0025	48	c.172 others(65): Show c.1720+712_1720+713insATATATATATACACATGTATATATATAT ATATATATATACATGTATAT	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130470186	G G	GTATATAT others(41): Show GTATATATATATACATATATATATATATATATGTGTATATATATACATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0004 a0001c0021t0004	a0001c0021t0004g0041 a0001c0021t0004g0041	1	398	0.0025	48	c.172 others(65): Show c.1721-722_1721-721insCATATATATATATATATATGTGTATATA TATACATATATATATATATA	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
ADAMTS18_chr16_77277128_77440034	77314753	C C	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0006 a0010c0013t0006	a0010c0013t0006g0202 a0010c0013t0006g0202	1	326	0.0031	48	c.253 others(67): Show c.2532+5095_2532+5096insATATATATATATATATATATATATAT ATATATATATATATATATATAT	ADAMTS18	ENSG00000140873.16	transcript	ENST00000282849.10	protein_coding	16/22			chr16	TogoVar
ADAMTS3_chr4_72275969_72574221	72529950	A A	AATATATA others(41): Show AATATATAATATATTATATTTATATATATATAATATATTATATTTATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0006 a0003c0008t0006	a0003c0008t0006g0158 a0003c0008t0006g0158	1	182	0.0055	48	c.504 others(67): Show c.504+18527_504+18528insATATAAATATAATATATTATATATAT ATAAATATAATATATTATATAT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72550008	A A	AAGGAGAA others(41): Show AAGGAGAAGGAGAAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0016 a0001c0001t0005g0016	1	182	0.0055	48	c.98- others(63): Show c.98-1125_98-1124insCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTCCTTCTCCTTCTCCT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	2/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72550014	A A	AAGGAGAA others(41): Show AAGGAGAAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18994.hp2 NA18939.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0109 a0001c0001t0001g0110	2	182	0.0110	48	c.98- others(63): Show c.98-1131_98-1130insCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTCCTTCTCCT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	2/21			chr4	TogoVar
ADAMTS6_chr5_65143738_65486920	65230302	A A	ATATGAAA others(41): Show ATATGAAATATATATAATACATTATATATATGAAATATATATAATACAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp2 HG01169.hp2 others(5): Show HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01256.hp1 HG01258.hp1 HG02080.hp1 HG02083.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0025 a0001c0001t0001g0101 a0001c0001t0001g0102 others(5): Show a0001c0001t0001g0025 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0003g0041 a0001c0001t0003g0089 a0001c0001t0003g0138 a0001c0001t0003g0140 a0001c0001t0003g0154	8	204	0.0392	48	c.193 others(67): Show c.1934-4084_1934-4083insATGTATTATATATATTTCATATATAT AATGTATTATATATATTTCATA	ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	15/24			chr5	TogoVar
ADAMTSL1_chr9_18469153_18915950	18588884	C C	CATATATA others(41): Show CATATATATATATATATATACATATATATATATATATATACATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0029 a0001c0005t0003g0029	1	218	0.0046	48	c.474 others(67): Show c.474+14647_474+14648insTATATATATACATATATATATATATA TATATATATATACATATATATA	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18688689	A A	AAAAAAAA others(41): Show AAAAAAAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02129.hp2 HG00408.hp1 HG02129.hp2	a0001 a0001	a0001c0007 a0001c0024 a0001c0007 a0001c0024	a0001c0007t0004 a0001c0024t0001 a0001c0007t0004 a0001c0024t0001	a0001c0007t0004g0171 a0001c0024t0001g0174 a0001c0007t0004g0171 a0001c0024t0001g0174	2	218	0.0092	48	c.157 others(67): Show c.1574+3890_1574+3891insAAAAAAAATATATATATATATATATA TATATATATATATATATATATA	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL3_chr15_83649123_84044842	83903936	A A	AGGAAGGA others(41): Show AGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG02280.hp2 HG01069.hp1 HG01071.hp1 HG02280.hp2	a0007 a0013 a0007 a0013	a0007c0007 a0013c0014 a0007c0007 a0013c0014	a0007c0007t0001 a0013c0014t0002 a0007c0007t0001 a0013c0014t0002	a0007c0007t0001g0060 a0013c0014t0002g0039 a0013c0014t0002g0040 a0007c0007t0001g0060 a0013c0014t0002g0039 a0013c0014t0002g0040	3	274	0.0110	48	c.170 others(67): Show c.1700+4205_1700+4206insGGAAGGAAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGGG	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	15/29			chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	83903936	A A	AGGAAGGG others(41): Show AGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01175.hp2 HG01192.hp2 others(12): Show HG00733.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01433.hp1 HG02055.hp1 HG02074.hp1 HG02258.hp1 HG02451.hp2 HG02572.hp1 HG02602.hp1 HG02717.hp1 HG03492.hp2 HG03710.hp2 NA18951.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0015 a0002c0002 a0007c0007 a0001c0015 a0002c0002 a0007c0007	a0001c0015t0001 a0002c0002t0001 a0002c0002t0004 others(1): Show a0001c0015t0001 a0002c0002t0001 a0002c0002t0004 a0007c0007t0001	a0001c0015t0001g0077 a0002c0002t0001g0042 a0002c0002t0001g0054 others(12): Show a0001c0015t0001g0077 a0002c0002t0001g0042 a0002c0002t0001g0054 a0002c0002t0001g0078 a0002c0002t0001g0087 a0002c0002t0001g0090 a0002c0002t0001g0093 a0002c0002t0001g0107 a0002c0002t0001g0111 a0002c0002t0001g0114 a0002c0002t0001g0117 a0002c0002t0001g0162 a0002c0002t0001g0255 a0002c0002t0004g0232 a0007c0007t0001g0062	15	274	0.0547	48	c.170 others(67): Show c.1700+4205_1700+4206insGGAAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGGG	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	15/29			chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	83903936	A A	AGGGAGGG others(41): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0052 a0002c0002t0001g0052	1	274	0.0037	48	c.170 others(67): Show c.1700+4205_1700+4206insGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGGG	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	15/29			chr15	TogoVar
ADARB2_chr10_1172313_1742525	1236811	T T	TTTACTCC others(41): Show TTTACTCCCCCCTCCCTCCCGGTGTTTACTCCCCTCTTCCTCCCGGTGC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0013 a0001c0001t0010g0013	1	106	0.0094	48	c.136 others(67): Show c.1362-2967_1362-2966insGCACCGGGAGGAAGAGGGGAGTAAAC ACCGGGAGGGAGGGGGGAGTAA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237581	T T	TACTCCCC others(41): Show TACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0044 a0002c0002t0044	a0002c0002t0044g0049 a0002c0002t0044g0049	1	106	0.0094	48	c.136 others(67): Show c.1362-3737_1362-3736insGAACACCGGGAGGCAGAGGGGAGTAA ACACCGGGAGGGAGAGGGGAGT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237640	G G	GCCTCCCG others(41): Show GCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCCCTC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0096 a0002c0002t0004g0096	1	106	0.0094	48	c.136 others(67): Show c.1362-3796_1362-3795insGAGGGGGGAGTAAACACCGGGAGGCA GGGGGGAGTAAACACCGGGAGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237819	T T	TTTACTCC others(41): Show TTTACTCCCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0014 a0005c0015t0014	a0005c0015t0014g0008 a0005c0015t0014g0008	1	106	0.0094	48	c.136 others(67): Show c.1362-3975_1362-3974insGCACCGGGAGGGAGAGGGGAGTAAAC ACCGGGAGACAGAGGGGAGTAA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238489	C C	CCCCTCTG others(41): Show CCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTCCCTCCCGGTGTTTACT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0013 a0001c0001t0010g0013	1	106	0.0094	48	c.136 others(67): Show c.1361+3641_1361+3642insAGTAAACACCGGGAGGGAGAGGGGGA GTAAACACCGGGAGGCAGAGGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238830	G G	GCCTCCCG others(41): Show GCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0047 a0002c0002t0008g0047	1	106	0.0094	48	c.136 others(67): Show c.1361+3300_1361+3301insGAGAGGGGAGTAAACACCGGGAGGGA GAGGGGAGTGAACACCGGGAGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239460	G G	GTCTCCCG others(41): Show GTCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACTCCCCCCTC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0043 a0002c0002t0043	a0002c0002t0043g0053 a0002c0002t0043g0053	1	106	0.0094	48	c.136 others(67): Show c.1361+2670_1361+2671insGAGGGGGGAGTAAACACCGGGAGGGA GGGGGGAGTAAACACCGGGAGA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239937	T T	TCTGCCTC others(41): Show TCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp2 HG02055.hp1 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0002 a0002c0002t0005	a0002c0002t0002g0043 a0002c0002t0005g0033 a0002c0002t0002g0043 a0002c0002t0005g0033	2	106	0.0189	48	c.136 others(67): Show c.1361+2193_1361+2194insGGGGGAGTAAACACCGGGAGGCAGAG GGGAGTAAACACCGGGAGGCAG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar

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