Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
ATP7B_chr13_51927669_52016450	51953851	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01106.hp2 HG01884.hp1 others(10): Show HG01099.hp1 HG01106.hp2 HG01884.hp1 HG02280.hp1 HG02717.hp1 HG02738.hp2 HG03130.hp1 HG03579.hp2 HG03688.hp1 HG04115.hp2 NA19043.hp1 NA19080.hp2 NA19082.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0011 a0003c0003 others(1): Show a0002c0002 a0002c0011 a0003c0003 a0003c0005	a0002c0002t0007 a0002c0011t0018 a0003c0003t0005 others(4): Show a0002c0002t0007 a0002c0011t0018 a0003c0003t0005 a0003c0005t0004 a0003c0005t0005 a0003c0005t0010 a0003c0005t0012	a0002c0002t0007g0039 a0002c0002t0007g0095 a0002c0002t0007g0096 others(9): Show a0002c0002t0007g0039 a0002c0002t0007g0095 a0002c0002t0007g0096 a0002c0002t0007g0099 a0002c0011t0018g0035 a0003c0003t0005g0018 a0003c0003t0005g0260 a0003c0005t0004g0022 a0003c0005t0004g0023 a0003c0005t0005g0253 a0003c0005t0010g0020 a0003c0005t0012g0021	13	302	0.0431	19	c.244 others(38): Show c.2448-3453_2448-3452insTTTTTTTTTTTTTTTTTTT	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	9/20			chr13	TogoVar
ATP8A1_chr4_42403373_42662105	42446080	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0256 a0001c0001t0005g0256	1	310	0.0032	19	c.295 others(36): Show c.2958+484_2958+502dupTTTTTTTTTTTTTTTTTTT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	31/36			chr4	TogoVar
ATP8B1_chr18_57641426_57808315	57680277	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02735.hp2 NA21309.hp2 HG00621.hp1 HG02735.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0001 a0001c0001t0005 a0001c0001t0011	a0001c0001t0001g0006 a0001c0001t0005g0085 a0001c0001t0011g0181 a0001c0001t0001g0006 a0001c0001t0005g0085 a0001c0001t0011g0181	3	314	0.0096	19	c.163 others(38): Show c.1630+3740_1630+3758dupTTTTTTTTTTTTTTTTTTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	15/27			chr18	TogoVar
ATP9A_chr20_51591514_51773390	51642726	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0060 a0001c0003t0060	a0001c0003t0060g0088 a0001c0003t0060g0088	1	312	0.0032	19	c.150 others(38): Show c.1507-3241_1507-3223dupTTTTTTTTTTTTTTTTTTT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	14/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51658888	C C	CGGGGGGG others(12): Show CGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03130.hp2 NA18973.hp2 HG02280.hp2 HG03130.hp2 NA18973.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0005 a0001c0003 a0001c0004 a0001c0005	a0001c0003t0014 a0001c0004t0004 a0001c0005t0046 a0001c0003t0014 a0001c0004t0004 a0001c0005t0046	a0001c0003t0014g0158 a0001c0004t0004g0184 a0001c0005t0046g0116 a0001c0003t0014g0158 a0001c0004t0004g0184 a0001c0005t0046g0116	3	312	0.0096	19	c.129 others(38): Show c.1294-1739_1294-1738insCCCCCCCCCCCCCCCCCCC	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	13/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51718814	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0198 a0001c0002t0005g0198	1	312	0.0032	19	c.328 others(36): Show c.328-5759_328-5741dupTTTTTTTTTTTTTTTTTTT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	3/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51765642	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03041.hp2 HG00735.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0079 a0001c0001t0012g0080 a0001c0001t0003g0079 a0001c0001t0012g0080	2	312	0.0064	19	c.68+ others(34): Show c.68+2659_68+2660insTTTTTTTTTTTTTTTTTTT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27			chr20	TogoVar
ATP9B_chr18_79064394_79383283	79071399	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01123.hp2 HG02071.hp1 others(11): Show HG00735.hp2 HG01123.hp2 HG02071.hp1 HG02300.hp1 HG02735.hp1 HG03225.hp2 HG04204.hp2 NA18747.hp1 NA18944.hp1 NA18951.hp1 NA18971.hp1 NA18998.hp1 NA19001.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0004t0003 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0004t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0009	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(11): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0004t0003g0034 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0002g0182 a0002c0002t0002g0252 a0002c0002t0009g0177	14	298	0.0470	19	c.119 others(36): Show c.119+1884_119+1885insTTTTTTTTTTTTTTTTTTT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79376214	C C	CACACACA others(12): Show CACACACACACACACACAAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	298	0.0034	19	c.330 others(36): Show c.3307+789_3307+790insCACACACACACACACAAAA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATRNL1_chr10_115088365_115953999	115381432	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0032 a0001c0001t0022g0032	1	128	0.0078	19	c.317 others(40): Show c.3176-13210_3176-13209insTTTTTTTTTTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115738154	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02135.hp1 HG04115.hp2 HG01071.hp2 HG02135.hp1 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0014 a0001c0001 a0001c0009 a0002c0014	a0001c0001t0001 a0001c0009t0005 a0002c0014t0009 a0001c0001t0001 a0001c0009t0005 a0002c0014t0009	a0001c0001t0001g0068 a0001c0009t0005g0059 a0002c0014t0009g0072 a0001c0001t0001g0068 a0001c0009t0005g0059 a0002c0014t0009g0072	3	128	0.0234	19	c.390 others(40): Show c.3903+10801_3903+10802insTTTTTTTTTTTTTTTTCTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115802046	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp2 HG01123.hp1 others(13): Show HG00738.hp1 HG00741.hp2 HG01123.hp1 HG01258.hp1 HG01515.hp1 HG02015.hp2 HG02809.hp2 HG02976.hp2 HG04115.hp2 NA18957.hp1 NA18994.hp1 NA18995.hp1 NA19011.hp1 NA19070.hp1 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0003t0038 a0001c0003t0039 a0001c0006t0009 a0001c0009t0005	a0001c0001t0001g0036 a0001c0001t0001g0096 a0001c0001t0003g0066 others(13): Show a0001c0001t0001g0036 a0001c0001t0001g0096 a0001c0001t0003g0066 a0001c0002t0001g0041 a0001c0002t0001g0045 a0001c0002t0004g0040 a0001c0002t0004g0054 a0001c0002t0004g0056 a0001c0002t0004g0067 a0001c0002t0004g0127 a0001c0002t0005g0037 a0001c0002t0005g0043 a0001c0003t0038g0106 a0001c0003t0039g0126 a0001c0006t0009g0038 a0001c0009t0005g0059	16	128	0.1250	19	c.390 others(40): Show c.3904-45831_3904-45830insCACACACACACACACACAC	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28			chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115856428	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02723.hp1 HG02896.hp1 others(2): Show HG00738.hp2 HG02723.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0008 a0001c0001 a0001c0005 a0002c0008	a0001c0001t0020 a0001c0005t0007 a0001c0005t0018 others(1): Show a0001c0001t0020 a0001c0005t0007 a0001c0005t0018 a0002c0008t0011	a0001c0001t0020g0115 a0001c0005t0007g0004 a0001c0005t0007g0009 others(2): Show a0001c0001t0020g0115 a0001c0005t0007g0004 a0001c0005t0007g0009 a0001c0005t0018g0003 a0002c0008t0011g0073	5	128	0.0391	19	c.401 others(38): Show c.4018+8441_4018+8459dupAAAAAAAAAAAAAAAAAAA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3519006	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG04199.hp1 NA18522.hp1 HG03942.hp2 HG04199.hp1 NA18522.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0011 a0002c0004t0016 a0002c0004t0011 a0002c0004t0016	a0002c0004t0011g0151 a0002c0004t0016g0155 a0002c0004t0016g0156 a0002c0004t0011g0151 a0002c0004t0016g0155 a0002c0004t0016g0156	3	220	0.0136	19	c.411 others(38): Show c.411-16233_411-16232insAAAAAAAAAAAAAAAAAAA	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77585583	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 homoSapiens_chm13v2.hp1 HG03225.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0002 a0001c0007 a0002c0002	a0001c0007t0005 a0002c0002t0002 a0001c0007t0005 a0002c0002t0002	a0001c0007t0005g0079 a0002c0002t0002g0065 a0001c0007t0005g0079 a0002c0002t0002g0065	2	218	0.0092	19	c.621 others(38): Show c.6217+4232_6217+4250dupTTTTTTTTTTTTTTTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	27/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77790990	C C	CTATAATA others(12): Show CTATAATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0012	1	218	0.0046	19	c.-49 others(30): Show c.-4990_-4989insTATATATATATATATTATA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding		4775		chrX	TogoVar
ATR_chr3_142444235_142583733	142528880	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp2 HG02717.hp1 HG02280.hp2 HG02451.hp2 HG02717.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0016 a0001c0006t0001g0018 a0001c0006t0001g0020 a0001c0006t0001g0016 a0001c0006t0001g0018 a0001c0006t0001g0020	3	322	0.0093	19	c.394 others(38): Show c.3946-4682_3946-4681insTATATATATATATATATAT	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATXN10_chr22_45666834_45850307	45751763	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAATAAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01433.hp2 HG01070.hp1 HG01071.hp1 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0094 a0001c0001t0002g0101 a0001c0001t0002g0102	3	316	0.0095	19	c.117 others(40): Show c.1173+11227_1173+11228insAAAAAAAAAAAAATAATAA	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45753377	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	316	0.0032	19	c.117 others(40): Show c.1173+12869_1173+12887dupTTTTTTTTTTTTTTTTTTT	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45840363	C C	CAGCAGGT others(12): Show CAGCAGGTGCACCTAATCTA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18985.hp1 NA19056.hp1 others(1): Show NA18964.hp2 NA18985.hp1 NA19056.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 others(1): Show a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150	4	316	0.0127	19	c.123 others(38): Show c.1238-2618_1238-2600dupACCTAATCTAAGCAGGTGC	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN1_chr6_16294112_16766460	16395270	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02630.hp1 HG03209.hp2 HG02451.hp1 HG02630.hp1 HG03209.hp2	a0009 a0022 a0034 a0009 a0022 a0034	a0009c0042 a0022c0019 a0034c0047 a0009c0042 a0022c0019 a0034c0047	a0009c0042t0011 a0022c0019t0001 a0034c0047t0002 a0009c0042t0011 a0022c0019t0001 a0034c0047t0002	a0009c0042t0011g0047 a0022c0019t0001g0127 a0034c0047t0002g0029 a0009c0042t0011g0047 a0022c0019t0001g0127 a0034c0047t0002g0029	3	182	0.0165	19	c.-16 others(40): Show c.-160-66819_-160-66801dupTTTTTTTTTTTTTTTTTTT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16606867	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0021 a0001c0001t0030g0021	1	182	0.0055	19	c.-48 others(40): Show c.-488-20961_-488-20960insCACACACACACACACACAC	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7			chr6	TogoVar
ATXN2_chr12_111447214_111604315	111576132	T T	TAACATAA others(12): Show TAACATAACATAACATAACA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp1 HG02486.hp2 others(4): Show HG02055.hp1 HG02486.hp1 HG02486.hp2 HG03209.hp1 HG03453.hp1 HG03579.hp2 NA20300.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0005 a0003c0004t0003 a0003c0004t0005	a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 others(4): Show a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 a0003c0004t0003g0092 a0003c0004t0003g0095 a0003c0004t0003g0110 a0003c0004t0005g0091	7	298	0.0235	19	c.252 others(38): Show c.252-20214_252-20213insTGTTATGTTATGTTATGTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111588991	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA19057.hp2 NA18951.hp2 NA19057.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0065 a0002c0002t0001g0010 a0002c0002t0001g0065	2	298	0.0067	19	c.251 others(36): Show c.251+9774_251+9792dupTTTTTTTTTTTTTTTTTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111592782	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA19056.hp1 NA19080.hp1 HG02080.hp1 NA19056.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0280 a0001c0001t0002g0286 a0001c0001t0002g0287	3	298	0.0101	19	c.251 others(36): Show c.251+5983_251+6001dupTTTTTTTTTTTTTTTTTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN7L1_chr7_105599772_105881599	105727767	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19005.hp1 NA19003.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0246 a0001c0001t0007g0057 a0001c0001t0004g0246 a0001c0001t0007g0057	2	252	0.0079	19	c.355 others(38): Show c.355+60836_355+60837insTATATATATATATATATAT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105740784	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG01981.hp2 others(1): Show HG01884.hp1 HG01891.hp2 HG01981.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0021 a0001c0001t0045 others(1): Show a0001c0001t0014 a0001c0001t0021 a0001c0001t0045 a0001c0001t0055	a0001c0001t0014g0166 a0001c0001t0021g0130 a0001c0001t0045g0190 others(1): Show a0001c0001t0014g0166 a0001c0001t0021g0130 a0001c0001t0045g0190 a0001c0001t0055g0252	4	252	0.0159	19	c.355 others(38): Show c.355+47819_355+47820insTCAAAAAAAAAAAAAAAAA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105845487	T T	TTATCTTT others(12): Show TTATCTTTGTAGATCTGTTA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG01069.hp1 others(25): Show HG00642.hp2 HG00738.hp1 HG01069.hp1 HG01109.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01952.hp2 HG02148.hp2 HG02280.hp2 HG02572.hp1 HG02630.hp1 HG02818.hp1 HG02818.hp2 HG02965.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03490.hp1 HG03491.hp1 HG03516.hp2 HG04199.hp1 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0034 a0001c0001t0035 a0001c0001t0044 a0001c0001t0052 a0001c0001t0057 a0002c0002t0032	a0001c0001t0001g0059 a0001c0001t0001g0181 a0001c0001t0001g0222 others(25): Show a0001c0001t0001g0059 a0001c0001t0001g0181 a0001c0001t0001g0222 a0001c0001t0002g0239 a0001c0001t0002g0245 a0001c0001t0003g0150 a0001c0001t0003g0235 a0001c0001t0003g0238 a0001c0001t0008g0075 a0001c0001t0012g0244 a0001c0001t0013g0236 a0001c0001t0013g0241 a0001c0001t0013g0242 a0001c0001t0013g0243 a0001c0001t0014g0233 a0001c0001t0016g0069 a0001c0001t0017g0213 a0001c0001t0019g0230 a0001c0001t0021g0184 a0001c0001t0025g0240 a0001c0001t0026g0234 a0001c0001t0027g0134 a0001c0001t0034g0068 a0001c0001t0035g0151 a0001c0001t0044g0110 a0001c0001t0052g0133 a0001c0001t0057g0229 a0002c0002t0032g0149	28	252	0.1111	19	c.250 others(38): Show c.250+30324_250+30325insTAACAGATCTACAAAGATA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11			chr7	TogoVar
AUNIP_chr1_25829006_25864457	25831641	C C	CTATTTCA others(12): Show CTATTTCAGGAAATAGTAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG03491.hp1 HG03492.hp2 others(2): Show HG02735.hp1 HG03491.hp1 HG03492.hp2 HG03942.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0074 a0001c0001t0001g0092 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0074 a0001c0001t0001g0092 a0001c0001t0001g0106	5	352	0.0142	19	c.33 others(30): Show c.3333_*3351dupTTTACTATTTCCTGAAATA	AUNIP	ENSG00000127423.11	transcript	ENST00000374298.4	protein_coding		2364		chr1	TogoVar
AUTS2_chr7_69593475_70798506	69614365	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0012	1	76	0.0132	19	c.309 others(38): Show c.309+14405_309+14406insCTTTCTTTCTTTCTTTCTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69619629	T T	TGGCCTGA others(12): Show TGGCCTGATTATCCTCTGTG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA21309.hp1 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0016 a0001c0001t0015 a0001c0001t0016	a0001c0001t0015g0001 a0001c0001t0016g0002 a0001c0001t0015g0001 a0001c0001t0016g0002	2	76	0.0263	19	c.309 others(38): Show c.309+19673_309+19691dupGATTATCCTCTGTGGGCCT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70053544	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0070 a0001c0001t0014g0070	1	76	0.0132	19	c.523 others(38): Show c.523-64576_523-64575insTTTTTTTTTTTTTTTTTTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70177813	T T	TTGGAATT others(12): Show TTGGAATTATCCCCTCTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00597.hp1 others(43): Show HG00099.hp2 HG00280.hp1 HG00597.hp1 HG00741.hp1 HG01081.hp1 HG01081.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01433.hp1 HG01884.hp1 HG01934.hp2 HG01952.hp2 HG02055.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02886.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG04199.hp1 HG04199.hp2 NA18612.hp2 NA18952.hp2 NA19030.hp2 NA19240.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0002c0002 a0002c0010 a0003c0006 a0005c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(27): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0003t0008 a0001c0003t0027 a0001c0004t0012 a0001c0004t0013 a0001c0005t0030 a0001c0007t0006 a0002c0002t0024 a0002c0002t0026 a0002c0002t0031 a0002c0010t0033 a0003c0006t0003 a0005c0011t0007	a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0033 others(43): Show a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0003g0031 a0001c0001t0003g0035 a0001c0001t0003g0068 a0001c0001t0003g0076 a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0005g0020 a0001c0001t0006g0010 a0001c0001t0006g0038 a0001c0001t0007g0040 a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0001t0009g0023 a0001c0001t0014g0070 a0001c0001t0015g0001 a0001c0001t0016g0002 a0001c0001t0019g0075 a0001c0001t0020g0029 a0001c0001t0022g0032 a0001c0001t0023g0072 a0001c0001t0028g0021 a0001c0001t0029g0022 a0001c0001t0032g0016 a0001c0001t0034g0018 a0001c0001t0035g0019 a0001c0003t0008g0069 a0001c0003t0027g0009 a0001c0004t0012g0024 a0001c0004t0013g0025 a0001c0005t0030g0013 a0001c0007t0006g0027 a0002c0002t0024g0059 a0002c0002t0026g0011 a0002c0002t0031g0007 a0002c0010t0033g0014 a0003c0006t0003g0034 a0005c0011t0007g0004	46	76	0.6053	19	c.660 others(38): Show c.660+43243_660+43244insGGAATTATCCCCTCTCTCT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70185257	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	76	0.0132	19	c.660 others(38): Show c.660+50695_660+50713dupTTTTTTTTTTTTTTTTTTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70699945	G G	GCCCCCCA others(12): Show GCCCCCCAGGACCTCTGCCA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03225.hp1 HG03139.hp1 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0036 a0001c0001t0002 a0002c0002t0036	a0001c0001t0002g0047 a0002c0002t0036g0017 a0001c0001t0002g0047 a0002c0002t0036g0017	2	76	0.0263	19	c.742 others(36): Show c.742+1327_742+1345dupCCCCCAGGACCTCTGCCAC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33871774	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0014 a0003c0003t0003g0014	1	266	0.0038	19	c.517 others(34): Show c.517-745_517-744insTTTTTTTTTTTTTTTTTTT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	3/5			chr15	TogoVar
AVL9_chr7_32490489_32593726	32548144	C C	CTCTCTTT others(12): Show CTCTCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0037 a0001c0009t0037	a0001c0009t0037g0313 a0001c0009t0037g0313	1	330	0.0030	19	c.301 others(34): Show c.301-702_301-701insCTCTTTTTTTTTTTTTTTT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32548144	C C	CTCTTTTT others(12): Show CTCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0120 a0001c0008t0120	a0001c0008t0120g0054 a0001c0008t0120g0054	1	330	0.0030	19	c.301 others(34): Show c.301-702_301-701insCTTTTTTTTTTTTTTTTTT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32549941	A A	AAAAAAAG others(12): Show AAAAAAAGAAAAGGAATGGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(193): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18940.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp2 NA19078.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19087.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0011 a0003c0005 a0004c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(88): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0024 a0001c0001t0028 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0078 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0121 a0001c0001t0122 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0001t0133 a0001c0001t0134 a0001c0001t0135 a0001c0001t0136 a0001c0001t0138 a0001c0001t0139 a0001c0001t0140 a0001c0002t0143 a0001c0006t0004 a0001c0006t0007 a0001c0006t0022 a0001c0006t0051 a0001c0007t0016 a0001c0011t0003 a0003c0005t0023 a0003c0005t0062 a0003c0005t0063 a0003c0005t0064 a0003c0005t0065 a0003c0005t0066 a0003c0005t0067 a0004c0010t0009 a0004c0010t0017	a0001c0001t0001g0012 a0001c0001t0001g0048 a0001c0001t0001g0176 others(193): Show a0001c0001t0001g0012 a0001c0001t0001g0048 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0232 a0001c0001t0003g0021 a0001c0001t0003g0179 a0001c0001t0003g0201 a0001c0001t0003g0203 a0001c0001t0003g0217 a0001c0001t0003g0220 a0001c0001t0003g0228 a0001c0001t0003g0231 a0001c0001t0003g0236 a0001c0001t0004g0013 a0001c0001t0004g0023 a0001c0001t0004g0025 a0001c0001t0004g0028 a0001c0001t0004g0038 a0001c0001t0004g0230 a0001c0001t0007g0015 a0001c0001t0007g0018 a0001c0001t0007g0024 a0001c0001t0007g0031 a0001c0001t0007g0033 a0001c0001t0007g0221 a0001c0001t0007g0227 a0001c0001t0009g0197 a0001c0001t0009g0216 a0001c0001t0009g0244 a0001c0001t0009g0252 a0001c0001t0009g0266 a0001c0001t0009g0294 a0001c0001t0010g0163 a0001c0001t0010g0250 a0001c0001t0010g0265 a0001c0001t0010g0268 a0001c0001t0010g0276 a0001c0001t0010g0289 a0001c0001t0010g0304 a0001c0001t0013g0258 a0001c0001t0013g0260 a0001c0001t0013g0262 a0001c0001t0013g0263 a0001c0001t0013g0282 a0001c0001t0013g0327 a0001c0001t0014g0249 a0001c0001t0014g0253 a0001c0001t0014g0259 a0001c0001t0014g0264 a0001c0001t0014g0293 a0001c0001t0014g0295 a0001c0001t0017g0006 a0001c0001t0017g0008 a0001c0001t0017g0189 a0001c0001t0017g0219 a0001c0001t0018g0010 a0001c0001t0018g0016 a0001c0001t0018g0032 a0001c0001t0018g0035 a0001c0001t0018g0036 a0001c0001t0022g0009 a0001c0001t0022g0014 a0001c0001t0022g0112 a0001c0001t0024g0284 a0001c0001t0024g0287 a0001c0001t0024g0288 a0001c0001t0028g0111 a0001c0001t0028g0242 a0001c0001t0028g0267 a0001c0001t0033g0243 a0001c0001t0033g0257 a0001c0001t0033g0269 a0001c0001t0034g0274 a0001c0001t0034g0275 a0001c0001t0034g0292 a0001c0001t0035g0004 a0001c0001t0035g0005 a0001c0001t0035g0007 a0001c0001t0036g0285 a0001c0001t0036g0286 a0001c0001t0043g0247 a0001c0001t0043g0261 a0001c0001t0044g0240 a0001c0001t0044g0270 a0001c0001t0045g0272 a0001c0001t0045g0281 a0001c0001t0046g0245 a0001c0001t0046g0255 a0001c0001t0047g0273 a0001c0001t0047g0277 a0001c0001t0048g0022 a0001c0001t0048g0224 a0001c0001t0049g0205 a0001c0001t0049g0218 a0001c0001t0050g0046 a0001c0001t0050g0047 a0001c0001t0051g0017 a0001c0001t0052g0215 a0001c0001t0052g0225 a0001c0001t0053g0184 a0001c0001t0053g0229 a0001c0001t0054g0190 a0001c0001t0054g0211 a0001c0001t0055g0044 a0001c0001t0055g0045 a0001c0001t0056g0185 a0001c0001t0056g0199 a0001c0001t0057g0198 a0001c0001t0057g0222 a0001c0001t0058g0298 a0001c0001t0058g0300 a0001c0001t0059g0213 a0001c0001t0059g0223 a0001c0001t0060g0019 a0001c0001t0060g0034 a0001c0001t0061g0027 a0001c0001t0061g0029 a0001c0001t0078g0241 a0001c0001t0093g0234 a0001c0001t0094g0175 a0001c0001t0095g0239 a0001c0001t0096g0280 a0001c0001t0097g0271 a0001c0001t0098g0254 a0001c0001t0099g0256 a0001c0001t0100g0303 a0001c0001t0101g0309 a0001c0001t0102g0235 a0001c0001t0103g0246 a0001c0001t0104g0251 a0001c0001t0105g0279 a0001c0001t0106g0291 a0001c0001t0107g0283 a0001c0001t0108g0290 a0001c0001t0110g0315 a0001c0001t0111g0316 a0001c0001t0112g0278 a0001c0001t0113g0248 a0001c0001t0114g0238 a0001c0001t0121g0187 a0001c0001t0122g0196 a0001c0001t0125g0030 a0001c0001t0126g0204 a0001c0001t0127g0026 a0001c0001t0128g0237 a0001c0001t0129g0193 a0001c0001t0130g0049 a0001c0001t0131g0226 a0001c0001t0132g0233 a0001c0001t0133g0050 a0001c0001t0134g0039 a0001c0001t0135g0297 a0001c0001t0136g0299 a0001c0001t0138g0296 a0001c0001t0139g0003 a0001c0001t0140g0202 a0001c0002t0143g0195 a0001c0006t0004g0011 a0001c0006t0004g0040 a0001c0006t0004g0043 a0001c0006t0007g0042 a0001c0006t0022g0041 a0001c0006t0051g0051 a0001c0007t0016g0055 a0001c0007t0016g0056 a0001c0007t0016g0306 a0001c0007t0016g0307 a0001c0007t0016g0308 a0001c0011t0003g0020 a0003c0005t0023g0143 a0003c0005t0023g0317 a0003c0005t0023g0321 a0003c0005t0062g0322 a0003c0005t0063g0318 a0003c0005t0064g0323 a0003c0005t0065g0319 a0003c0005t0066g0326 a0003c0005t0067g0320 a0004c0010t0009g0194 a0004c0010t0017g0208	196	330	0.5939	19	c.372 others(36): Show c.372+1024_372+1042dupAAAAAAGAAAAGGAATGGC	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32566180	A A	ATCTTTTT others(12): Show ATCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00738.hp1 HG01981.hp1 others(24): Show HG00423.hp2 HG00738.hp1 HG01981.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02486.hp1 HG02622.hp2 HG02630.hp2 HG02738.hp2 HG02886.hp2 HG02922.hp2 HG02970.hp2 HG03195.hp1 HG03704.hp1 HG03710.hp2 HG03942.hp1 HG04115.hp1 NA18984.hp2 NA18993.hp1 NA19005.hp2 NA19030.hp2 NA19066.hp1 NA19077.hp1 NA19080.hp1 NA19084.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0006 others(3): Show a0001c0001 a0001c0004 a0001c0006 a0001c0007 a0002c0003 a0002c0012	a0001c0001t0003 a0001c0001t0017 a0001c0001t0051 others(18): Show a0001c0001t0003 a0001c0001t0017 a0001c0001t0051 a0001c0004t0021 a0001c0004t0031 a0001c0004t0042 a0001c0004t0087 a0001c0004t0088 a0001c0006t0004 a0001c0006t0022 a0001c0007t0016 a0002c0003t0002 a0002c0003t0008 a0002c0003t0012 a0002c0003t0020 a0002c0003t0030 a0002c0003t0032 a0002c0003t0040 a0002c0003t0081 a0002c0003t0124 a0002c0012t0002	a0001c0001t0003g0201 a0001c0001t0017g0006 a0001c0001t0017g0189 others(24): Show a0001c0001t0003g0201 a0001c0001t0017g0006 a0001c0001t0017g0189 a0001c0001t0051g0017 a0001c0004t0021g0325 a0001c0004t0031g0168 a0001c0004t0042g0154 a0001c0004t0087g0324 a0001c0004t0088g0156 a0001c0006t0004g0043 a0001c0006t0022g0041 a0001c0007t0016g0307 a0002c0003t0002g0117 a0002c0003t0002g0141 a0002c0003t0002g0171 a0002c0003t0008g0125 a0002c0003t0008g0170 a0002c0003t0012g0116 a0002c0003t0012g0120 a0002c0003t0020g0134 a0002c0003t0030g0138 a0002c0003t0030g0165 a0002c0003t0032g0136 a0002c0003t0040g0172 a0002c0003t0081g0164 a0002c0003t0124g0037 a0002c0012t0002g0145	27	330	0.0818	19	c.121 others(38): Show c.1216-3839_1216-3838insCTTTTTTTTTTTTTTTTTT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32572801	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0037 a0001c0009t0037	a0001c0009t0037g0312 a0001c0009t0037g0312	1	330	0.0030	19	c.135 others(36): Show c.1351-382_1351-381insAAAAAAAAAAAAAAAAAAA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678880	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0095 a0002c0002t0002g0095	1	446	0.0022	19	c.287 others(34): Show c.287+738_287+739insACACACACACACACACACA	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AVPI1_chr10_97672424_97692241	97679000	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0131 a0002c0002t0002g0131	1	446	0.0022	19	c.287 others(34): Show c.287+618_287+619insCACACACACACACACACAC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AXDND1_chr1_179360971_179559735	179486139	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAACT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG02258.hp2 others(5): Show HG01884.hp1 HG02145.hp1 HG02258.hp2 HG02280.hp2 HG02615.hp1 HG02818.hp1 HG02965.hp1 HG03130.hp2	a0001 a0023 a0001 a0023	a0001c0002 a0001c0007 a0023c0028 a0001c0002 a0001c0007 a0023c0028	a0001c0002t0001 a0001c0007t0001 a0023c0028t0001 a0001c0002t0001 a0001c0007t0001 a0023c0028t0001	a0001c0002t0001g0165 a0001c0002t0001g0227 a0001c0002t0001g0235 others(5): Show a0001c0002t0001g0165 a0001c0002t0001g0227 a0001c0002t0001g0235 a0001c0007t0001g0175 a0001c0007t0001g0187 a0001c0007t0001g0201 a0001c0007t0001g0203 a0023c0028t0001g0188	8	356	0.0225	19	c.209 others(38): Show c.2091+2920_2091+2921insAAAAAAAAAAAAAAACTAA	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXIN2_chr17_65523563_65566648	65538667	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0168 a0002c0007t0001g0168	1	402	0.0025	19	c.106 others(36): Show c.1060-343_1060-325dupTTTTTTTTTTTTTTTTTTT	AXIN2	ENSG00000168646.14	transcript	ENST00000307078.10	protein_coding	4/10			chr17	TogoVar
AXL_chr19_41214223_41266766	41260298	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0229 a0001c0001t0056g0229	1	314	0.0032	19	c.40 others(28): Show c.407_*425dupTTTTTTTTTTTTTTTTTTT	AXL	ENSG00000167601.12	transcript	ENST00000301178.9	protein_coding	20/20	426	INFO_REALIGN_3_PRIME	chr19	TogoVar
B3GALT1_chr2_167288001_167879045	167808440	C C	CTGGTTGT others(12): Show CTGGTTGTTCCTTTCCATGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02647.hp1 HG02683.hp2 others(3): Show HG01891.hp1 HG02647.hp1 HG02683.hp2 NA19030.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0045	a0001c0001t0002g0049 a0001c0001t0003g0002 a0001c0001t0005g0024 others(3): Show a0001c0001t0002g0049 a0001c0001t0003g0002 a0001c0001t0005g0024 a0001c0001t0005g0101 a0001c0001t0008g0005 a0001c0001t0045g0045	6	118	0.0509	19	c.-35 others(40): Show c.-351-10231_-351-10230insGGTTGTTCCTTTCCATGTT	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GAT1_chr11_134373508_134417242	134379781	A A	ACCTTGCC others(12): Show ACCTTGCCCACCACCCACCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(13): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00735.hp1 HG01433.hp1 HG01496.hp2 HG02109.hp2 HG02293.hp2 HG02572.hp2 HG02602.hp2 HG02818.hp1 HG02897.hp1 HG03209.hp2 HG03831.hp2 HG04204.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0013 a0001c0001t0036 others(3): Show a0001c0001t0008 a0001c0001t0013 a0001c0001t0036 a0001c0001t0043 a0001c0001t0044 a0001c0001t0052	a0001c0001t0008g0008 a0001c0001t0008g0105 a0001c0001t0008g0117 others(12): Show a0001c0001t0008g0008 a0001c0001t0008g0105 a0001c0001t0008g0117 a0001c0001t0008g0161 a0001c0001t0008g0196 a0001c0001t0008g0197 a0001c0001t0008g0209 a0001c0001t0013g0297 a0001c0001t0013g0317 a0001c0001t0013g0318 a0001c0001t0013g0332 a0001c0001t0036g0045 a0001c0001t0043g0100 a0001c0001t0044g0057 a0001c0001t0052g0291	16	352	0.0455	19	c.96 others(28): Show c.962_*980dupCGGTGGGTGGTGGGCAAGG	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	6/6	2156		chr11	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(12): Show ATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0064 a0002c0002t0002g0064	1	268	0.0037	19	c.-38 others(30): Show c.-3878_-3877insTATATATATATATATATTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00741.hp2 HG01074.hp1 others(24): Show HG00735.hp1 HG00741.hp2 HG01074.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01346.hp1 HG01981.hp2 HG01993.hp1 HG02074.hp1 HG02148.hp1 HG02486.hp1 HG02602.hp1 HG02735.hp2 HG03492.hp1 HG03710.hp2 HG03927.hp2 HG06807.hp2 NA18950.hp2 NA18952.hp1 NA18983.hp2 NA18990.hp1 NA19056.hp2 NA19058.hp1 NA19072.hp1 NA19079.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 a0002c0002t0003 a0002c0002t0008 a0004c0005t0001	a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0092 others(24): Show a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0115 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0237 a0001c0001t0006g0158 a0001c0001t0007g0112 a0001c0001t0007g0149 a0001c0001t0015g0105 a0002c0002t0003g0079 a0002c0002t0008g0097 a0004c0005t0001g0072 a0004c0005t0001g0073 a0004c0005t0001g0074	27	268	0.1008	19	c.-38 others(30): Show c.-3878_-3877insTATATATTTTTTTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar

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