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
ABCC2_chr10_99777640_99857594	99778449	C C	CAGAGAGA others(21): Show CAGAGAGAGAGAGAGAGAGAGAGAAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA21309.hp1 NA18979.hp2 NA21309.hp1	a0002 a0005 a0002 a0005	a0002c0003 a0005c0008 a0002c0003 a0005c0008	a0002c0003t0001 a0005c0008t0001 a0002c0003t0001 a0005c0008t0001	a0002c0003t0001g0231 a0005c0008t0001g0011 a0002c0003t0001g0231 a0005c0008t0001g0011	2	336	0.0060	28	c.-43 others(39): Show c.-4396_-4395insAGAGAGAGAGAGAGAGAGAGAGAAAGAG	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding		4190		chr10	TogoVar
ABCC2_chr10_99777640_99857594	99778449	C C	CAGAGAGA others(21): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01496.hp2 HG02109.hp2 others(7): Show HG01358.hp2 HG01496.hp2 HG02109.hp2 HG02486.hp2 HG02622.hp1 HG02809.hp1 HG03098.hp1 HG03195.hp1 HG03225.hp1 NA19240.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0004 a0004c0006 a0001c0001 a0003c0004 a0004c0006	a0001c0001t0001 a0003c0004t0001 a0004c0006t0001 a0001c0001t0001 a0003c0004t0001 a0004c0006t0001	a0001c0001t0001g0012 a0003c0004t0001g0001 a0003c0004t0001g0144 others(5): Show a0001c0001t0001g0012 a0003c0004t0001g0001 a0003c0004t0001g0144 a0003c0004t0001g0163 a0003c0004t0001g0164 a0003c0004t0001g0171 a0003c0004t0001g0182 a0004c0006t0001g0138	10	336	0.0298	28	c.-43 others(39): Show c.-4396_-4395insAGAGAGAGAGAGAGAGAGAGAGAGAGAA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding		4190		chr10	TogoVar
ABCC2_chr10_99777640_99857594	99814525	A A	ATATATAC others(21): Show ATATATACACATATACACACACATATGTG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0100 a0001c0002t0002g0100	1	336	0.0030	28	c.209 others(47): Show c.2094+1458_2094+1485dupCATATGTGTATATACACATATACACA CA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99814527	A A	ATATACAC others(21): Show ATATACACATATACACACACATATGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0125 a0001c0002t0002g0125	1	336	0.0030	28	c.209 others(47): Show c.2094+1410_2094+1411insGTATACACATATACACACACATATGT GT	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99814622	T T	TACACACA others(21): Show TACACACATATGTGTATATACACATATAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG00621.hp1 others(6): Show HG00544.hp1 HG00597.hp2 HG00621.hp1 HG02132.hp2 NA18978.hp2 NA18982.hp2 NA19004.hp1 NA19011.hp2 NA19083.hp2	a0001 a0023 a0001 a0023	a0001c0002 a0023c0034 a0001c0002 a0023c0034	a0001c0002t0002 a0001c0002t0003 a0023c0034t0002 a0001c0002t0002 a0001c0002t0003 a0023c0034t0002	a0001c0002t0002g0035 a0001c0002t0002g0043 a0001c0002t0002g0047 others(6): Show a0001c0002t0002g0035 a0001c0002t0002g0043 a0001c0002t0002g0047 a0001c0002t0002g0076 a0001c0002t0002g0087 a0001c0002t0002g0099 a0001c0002t0002g0109 a0001c0002t0003g0081 a0023c0034t0002g0042	9	336	0.0268	28	c.209 others(47): Show c.2094+1513_2094+1540dupATATGTGTATATACACATATACACAC AC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC3_chr17_50629881_50697253	50673978	T T	TTCTTTCT others(21): Show TTCTTTCTTTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	342	0.0029	28	c.259 others(45): Show c.2599+323_2599+324insTTCTTTCTCTTTCTTTCTTTCTTTCTCT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50673980	C C	CTTTCTTT others(21): Show CTTTCTTTCTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	342	0.0029	28	c.259 others(45): Show c.2599+323_2599+324insTTCTTTCTCTTTCTTTCTTTCTTTCTTT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50674034	C C	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	342	0.0029	28	c.259 others(45): Show c.2599+390_2599+417dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC4_chr13_95014835_95306451	95120146	G G	GTATCAAC others(21): Show GTATCAACAAGAAAGACCCCATTAGGTCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00423.hp2 others(108): Show HG00140.hp1 HG00280.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG01069.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp2 HG01975.hp2 HG02055.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03491.hp1 HG03540.hp1 HG03704.hp1 HG03710.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp2 NA18966.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18985.hp2 NA19002.hp1 NA19002.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19060.hp1 NA19065.hp2 NA19079.hp2 NA19084.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0015 a0017	a0001c0001 a0001c0002 a0001c0003 others(42): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0017 a0001c0022 a0001c0023 a0001c0024 a0001c0026 a0001c0042 a0001c0044 a0001c0045 a0001c0046 a0001c0047 a0001c0049 a0001c0050 a0001c0053 a0001c0055 a0001c0067 a0001c0068 a0002c0004 a0002c0005 a0002c0015 a0002c0020 a0002c0028 a0002c0060 a0002c0061 a0002c0064 a0002c0072 a0003c0008 a0003c0016 a0004c0006 a0005c0019 a0007c0043 a0007c0069 a0008c0032 a0009c0033 a0015c0062 a0017c0035	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(66): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0010 a0001c0003t0025 a0001c0007t0019 a0001c0009t0001 a0001c0009t0005 a0001c0010t0001 a0001c0010t0007 a0001c0011t0008 a0001c0012t0001 a0001c0012t0006 a0001c0012t0016 a0001c0013t0001 a0001c0013t0004 a0001c0013t0006 a0001c0014t0007 a0001c0017t0002 a0001c0022t0022 a0001c0023t0003 a0001c0024t0006 a0001c0026t0005 a0001c0042t0004 a0001c0044t0004 a0001c0045t0001 a0001c0046t0001 a0001c0047t0006 a0001c0049t0003 a0001c0050t0005 a0001c0053t0012 a0001c0055t0001 a0001c0067t0004 a0001c0068t0003 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0008 a0002c0004t0010 a0002c0005t0013 a0002c0015t0001 a0002c0015t0007 a0002c0020t0004 a0002c0028t0005 a0002c0028t0010 a0002c0060t0004 a0002c0061t0003 a0002c0064t0006 a0002c0072t0002 a0003c0008t0001 a0003c0008t0002 a0003c0008t0010 a0003c0016t0002 a0003c0016t0008 a0004c0006t0001 a0005c0019t0002 a0007c0043t0009 a0007c0069t0009 a0008c0032t0001 a0009c0033t0017 a0015c0062t0003 a0017c0035t0003	a0001c0001t0001g0046 a0001c0001t0001g0083 a0001c0001t0001g0154 others(108): Show a0001c0001t0001g0046 a0001c0001t0001g0083 a0001c0001t0001g0154 a0001c0001t0001g0169 a0001c0001t0001g0189 a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0001g0220 a0001c0001t0002g0197 a0001c0001t0005g0044 a0001c0001t0020g0168 a0001c0002t0001g0139 a0001c0002t0001g0142 a0001c0002t0001g0174 a0001c0002t0001g0177 a0001c0002t0001g0181 a0001c0002t0001g0188 a0001c0002t0001g0226 a0001c0002t0001g0238 a0001c0002t0002g0125 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0005g0027 a0001c0003t0001g0020 a0001c0003t0001g0036 a0001c0003t0001g0149 a0001c0003t0001g0216 a0001c0003t0001g0233 a0001c0003t0002g0023 a0001c0003t0002g0076 a0001c0003t0002g0095 a0001c0003t0005g0019 a0001c0003t0005g0077 a0001c0003t0010g0210 a0001c0003t0025g0243 a0001c0007t0019g0026 a0001c0009t0001g0047 a0001c0009t0001g0128 a0001c0009t0005g0132 a0001c0010t0001g0150 a0001c0010t0007g0143 a0001c0010t0007g0167 a0001c0010t0007g0180 a0001c0011t0008g0244 a0001c0012t0001g0081 a0001c0012t0006g0224 a0001c0012t0016g0089 a0001c0013t0001g0037 a0001c0013t0004g0012 a0001c0013t0004g0042 a0001c0013t0006g0031 a0001c0014t0007g0170 a0001c0014t0007g0172 a0001c0014t0007g0191 a0001c0017t0002g0115 a0001c0022t0022g0161 a0001c0023t0003g0073 a0001c0024t0006g0032 a0001c0026t0005g0050 a0001c0026t0005g0133 a0001c0042t0004g0040 a0001c0044t0004g0117 a0001c0045t0001g0129 a0001c0046t0001g0078 a0001c0047t0006g0120 a0001c0049t0003g0067 a0001c0050t0005g0038 a0001c0053t0012g0072 a0001c0055t0001g0033 a0001c0067t0004g0074 a0001c0068t0003g0007 a0002c0004t0001g0079 a0002c0004t0001g0147 a0002c0004t0001g0153 a0002c0004t0001g0182 a0002c0004t0002g0052 a0002c0004t0002g0193 a0002c0004t0003g0056 a0002c0004t0008g0241 a0002c0004t0010g0122 a0002c0005t0013g0060 a0002c0015t0001g0025 a0002c0015t0007g0071 a0002c0015t0007g0091 a0002c0020t0004g0016 a0002c0020t0004g0057 a0002c0020t0004g0130 a0002c0028t0005g0059 a0002c0028t0010g0014 a0002c0060t0004g0022 a0002c0061t0003g0055 a0002c0064t0006g0045 a0002c0072t0002g0041 a0003c0008t0001g0099 a0003c0008t0001g0141 a0003c0008t0001g0205 a0003c0008t0001g0208 a0003c0008t0002g0207 a0003c0008t0010g0214 a0003c0016t0002g0228 a0003c0016t0008g0245 a0004c0006t0001g0005 a0004c0006t0001g0104 a0004c0006t0001g0192 a0005c0019t0002g0175 a0007c0043t0009g0097 a0007c0069t0009g0043 a0008c0032t0001g0004 a0009c0033t0017g0003 a0015c0062t0003g0013 a0017c0035t0003g0148	111	248	0.4476	28	c.245 others(47): Show c.2456-4146_2456-4145insTGACCTAATGGGGTCTTTCTTGTTGA TA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	19/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95196582	G G	GAGGAAGG others(21): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0231 a0001c0003t0002g0231	1	248	0.0040	28	c.116 others(47): Show c.1162-1673_1162-1646dupTCCTTCCTTCCTTCCTTCCTTCCTTC CT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	8/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95244615	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0023 a0001c0009t0023	a0001c0009t0023g0034 a0001c0009t0023g0034	1	248	0.0040	28	c.306 others(45): Show c.306+2359_306+2360insCTTTCTTTCTTTCTTTCTTTCTTTCTTT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95247918	G G	GCACACAC others(21): Show GCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02257.hp1 HG02559.hp2 others(6): Show HG01981.hp1 HG02257.hp1 HG02559.hp2 HG02622.hp1 HG02647.hp1 HG02896.hp1 HG03130.hp2 HG03239.hp2 HG03540.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0001c0003 a0001c0017 others(5): Show a0001c0002 a0001c0003 a0001c0017 a0001c0021 a0001c0066 a0001c0071 a0002c0060 a0006c0027	a0001c0002t0005 a0001c0003t0002 a0001c0017t0006 others(5): Show a0001c0002t0005 a0001c0003t0002 a0001c0017t0006 a0001c0021t0001 a0001c0066t0003 a0001c0071t0009 a0002c0060t0004 a0006c0027t0002	a0001c0002t0005g0027 a0001c0003t0002g0023 a0001c0017t0006g0138 others(6): Show a0001c0002t0005g0027 a0001c0003t0002g0023 a0001c0017t0006g0138 a0001c0021t0001g0009 a0001c0021t0001g0011 a0001c0066t0003g0035 a0001c0071t0009g0010 a0002c0060t0004g0022 a0006c0027t0002g0151	9	248	0.0363	28	c.75- others(41): Show c.75-166_75-165insTGTGTGTGTGTGTGTGTGTGTGTGTGTG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	1/30			chr13	TogoVar
ABCF2_chr7_151206484_151232205	151206719	A A	AAGATAGA others(21): Show AAGATAGATAGATAGATAGATAGATAGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG02630.hp1 HG02965.hp2 others(6): Show HG00438.hp2 HG02630.hp1 HG02965.hp2 HG02976.hp1 HG03669.hp1 HG04184.hp1 NA18961.hp1 NA18974.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0002t0006 a0001c0001t0001 a0001c0002t0003 a0001c0002t0006	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0012 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0091 a0001c0002t0003g0004 a0001c0002t0003g0010 a0001c0002t0006g0007	9	390	0.0231	28	c.73 others(39): Show c.7334_*7335insATCTATCTATCTATCTATCTATCTATCT	ABCF2	ENSG00000033050.9	transcript	ENST00000287844.7	protein_coding		4764		chr7	TogoVar
ABCG2_chr4_88085269_88163639	88115232	G G	GTCTCTCT others(21): Show GTCTCTCTCTCTCTCTGTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01109.hp2 HG01928.hp2 others(4): Show HG01099.hp2 HG01109.hp2 HG01928.hp2 HG02615.hp2 HG03139.hp1 NA19063.hp2 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0016 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0016 a0003c0003t0001 a0003c0003t0003	a0001c0001t0001g0106 a0001c0001t0001g0278 a0001c0001t0001g0322 others(4): Show a0001c0001t0001g0106 a0001c0001t0001g0278 a0001c0001t0001g0322 a0001c0001t0016g0331 a0003c0003t0001g0285 a0003c0003t0001g0302 a0003c0003t0003g0310	7	350	0.0200	28	c.842 others(43): Show c.842-175_842-174insGAGAGAGAGAGACAGAGAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0325 a0001c0001t0001g0325	1	350	0.0029	28	c.842 others(43): Show c.842-199_842-198insTATATAGAGAGAGAGAGAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18980.hp2 HG03540.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0324 a0001c0001t0001g0275 a0001c0001t0001g0324	2	350	0.0057	28	c.842 others(43): Show c.842-199_842-198insTATAGAGAGAGAGAGAGAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88147016	G G	GGAAAGAA others(21): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02080.hp1 HG02135.hp1 others(16): Show HG01175.hp1 HG02080.hp1 HG02135.hp1 HG02486.hp1 HG02818.hp1 HG02896.hp2 HG02965.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG04115.hp1 HG04184.hp1 NA18942.hp1 NA18960.hp1 NA18986.hp2 NA18988.hp2 NA19043.hp1 NA19240.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001	a0001c0001t0001g0077 a0001c0001t0001g0115 a0001c0001t0001g0118 others(16): Show a0001c0001t0001g0077 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0134 a0001c0001t0001g0143 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0004g0338 a0001c0001t0006g0084 a0001c0001t0006g0085 a0001c0001t0014g0116 a0002c0002t0001g0060 a0002c0002t0001g0074 a0002c0002t0002g0059 a0002c0002t0002g0061 a0003c0003t0001g0117	19	350	0.0543	28	c.-19 others(45): Show c.-19-7030_-19-7003dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	1/15			chr4	TogoVar
ABHD12B_chr14_50867053_50909970	50870908	C C	CAAGAAAG others(21): Show CAAGAAAGAAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 NA19055.hp1 HG02148.hp1 NA19055.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0008 a0002c0002 a0005c0008	a0002c0002t0002 a0005c0008t0002 a0002c0002t0002 a0005c0008t0002	a0002c0002t0002g0003 a0005c0008t0002g0152 a0002c0002t0002g0003 a0005c0008t0002g0152	2	376	0.0053	28	c.-12 others(39): Show c.-1267_-1266insAAGAAAGAAAGAAAGAAAGAAAGAAAGA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1144		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAAGAAAGAAAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 NA20805.hp1 HG02056.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0021 a0002c0002t0002g0074 a0001c0001t0001g0021 a0002c0002t0002g0074	2	376	0.0053	28	c.-11 others(39): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAAAGAAAGAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAAGAAAGAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02735.hp2 NA18906.hp1 others(3): Show HG02055.hp1 HG02735.hp2 NA18906.hp1 NA18990.hp2 NA19054.hp2 NA19062.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0004c0007	a0001c0001t0001 a0001c0005t0008 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0005t0008 a0002c0002t0002 a0004c0007t0001	a0001c0001t0001g0048 a0001c0001t0001g0337 a0001c0005t0008g0212 others(3): Show a0001c0001t0001g0048 a0001c0001t0001g0337 a0001c0005t0008g0212 a0002c0002t0002g0103 a0002c0002t0002g0350 a0004c0007t0001g0117	6	376	0.0160	28	c.-11 others(39): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAAAGAGAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAAGAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG03139.hp1 HG02523.hp1 HG03139.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0004c0007t0001 a0001c0001t0001 a0004c0007t0001	a0001c0001t0001g0056 a0004c0007t0001g0167 a0001c0001t0001g0056 a0004c0007t0001g0167	2	376	0.0053	28	c.-11 others(39): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAGAAAGAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(21): Show ATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0166 a0001c0002t0002g0166	1	316	0.0032	28	c.422 others(43): Show c.422+943_422+944insAAAAAAAAAATATATATATATATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(21): Show ATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0255 a0001c0003t0002g0255	1	316	0.0032	28	c.422 others(43): Show c.422+943_422+944insAAAAAAAAAAAATATATATATATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD17C_chr15_80690310_80760621	80705333	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01167.hp1 HG02683.hp1 others(6): Show HG01123.hp2 HG01167.hp1 HG02683.hp1 HG03471.hp2 NA18946.hp2 NA18964.hp2 NA18994.hp1 NA19083.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0218 others(6): Show a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0229 a0001c0001t0001g0270 a0001c0001t0012g0059	9	360	0.0250	28	c.590 others(45): Show c.590+9321_590+9348dupTGTGTGTGTGTGTGTGTGTGTGTGTGTG	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD17C_chr15_80690310_80760621	80705362	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0335 a0001c0001t0005g0335	1	360	0.0028	28	c.590 others(45): Show c.590+9348_590+9349insTGTGTGTGTGTGTGTGTGTGTGGGTGTG	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD2_chr15_89083456_89207355	89127706	C C	CATATATA others(21): Show CATATATATATATATATGTATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02970.hp2 HG01243.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0040 a0001c0002t0017 a0001c0001t0040 a0001c0002t0017	a0001c0001t0040g0010 a0001c0002t0017g0008 a0001c0001t0040g0010 a0001c0002t0017g0008	2	234	0.0086	28	c.194 others(47): Show c.194+11198_194+11199insTATGTATATATATATATATATATATA TA	ABHD2	ENSG00000140526.18	transcript	ENST00000352732.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD2_chr15_89083456_89207355	89127706	C C	CATATATA others(21): Show CATATATATATATATATGTGTATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0007 a0001c0001t0010g0007	1	234	0.0043	28	c.194 others(47): Show c.194+11198_194+11199insTATGTGTATATATATATATATATATA TA	ABHD2	ENSG00000140526.18	transcript	ENST00000352732.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD2_chr15_89083456_89207355	89127724	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02559.hp1 HG02145.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0017 a0001c0001t0001 a0001c0002t0017	a0001c0001t0001g0006 a0001c0002t0017g0005 a0001c0001t0001g0006 a0001c0002t0017g0005	2	234	0.0086	28	c.194 others(47): Show c.194+11219_194+11220insATATATATATACATATATATATATAT AT	ABHD2	ENSG00000140526.18	transcript	ENST00000352732.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD3_chr18_21645901_21709774	21700827	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	304	0.0033	28	c.509 others(45): Show c.509+1488_509+1489insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ABHD3	ENSG00000158201.10	transcript	ENST00000289119.7	protein_coding	3/8			chr18	TogoVar
ABHD6_chr3_58232792_58299734	58286848	G G	GCATATAT others(21): Show GCATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02280.hp1 NA19087.hp2 HG01175.hp1 HG02280.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0248 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0248	3	302	0.0099	28	c.837 others(45): Show c.837+1395_837+1396insCATATATATATATATATATATATATATA	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/9			chr3	TogoVar
ABHD6_chr3_58232792_58299734	58286850	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0241 a0001c0001t0007g0241	1	302	0.0033	28	c.837 others(45): Show c.837+1398_837+1399insATATATATATATATATATATATATATAT	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABI1_chr10_26741596_26865958	26773215	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00558.hp1 others(6): Show HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00738.hp1 HG02145.hp1 HG04184.hp2 NA18939.hp2 NA19004.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0105 a0001c0001t0001g0109 others(6): Show a0001c0001t0001g0030 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0134 a0001c0001t0001g0275	9	358	0.0251	28	c.463 others(45): Show c.463-2127_463-2126insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	3/10			chr10	TogoVar
ABI2_chr2_203323394_203437169	203338951	T T	TATATATA others(21): Show TATATATAAATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0141 a0001c0001t0004g0141	1	320	0.0031	28	c.117 others(47): Show c.117+10327_117+10328insAATATATATATATATATATAAATATA TA	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI3BP_chr3_100744156_100998421	100894938	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0050 a0002c0002t0003g0050	1	238	0.0042	28	c.461 others(45): Show c.461+3796_461+3823dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	4/67			chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100940829	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0016 a0016	a0016c0043 a0016c0043	a0016c0043t0004 a0016c0043t0004	a0016c0043t0004g0205 a0016c0043t0004g0205	1	238	0.0042	28	c.80- others(45): Show c.80-14349_80-14348insCTATATATATATATATATATATATATAT	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	1/67			chr3	TogoVar
ABL2_chr1_179094330_179234677	179101996	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0047 a0001c0003t0047	a0001c0003t0047g0013 a0001c0003t0047g0013	1	350	0.0029	28	c.56 others(39): Show c.5694_*5721dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	12/12	5721		chr1	TogoVar
ABLIM1_chr10_114426112_114663275	114491012	G G	GTGTGTGT others(21): Show GTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02040.hp2 HG01978.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0015 a0001c0001t0006 a0001c0001t0015	a0001c0001t0006g0090 a0001c0001t0015g0028 a0001c0001t0006g0090 a0001c0001t0015g0028	2	256	0.0078	28	c.982 others(43): Show c.982+778_982+779insTATATATATATATATATATATACACACA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	7/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114491012	G G	GTGTGTGT others(21): Show GTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01433.hp2 HG01975.hp2 others(7): Show HG00280.hp1 HG01433.hp2 HG01975.hp2 HG02698.hp2 HG03831.hp2 NA18966.hp1 NA18970.hp2 NA18973.hp2 NA19011.hp2 NA19068.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0008c0020	a0001c0001t0005 a0001c0001t0013 a0001c0001t0017 others(5): Show a0001c0001t0005 a0001c0001t0013 a0001c0001t0017 a0001c0002t0004 a0001c0002t0104 a0001c0003t0002 a0001c0003t0007 a0008c0020t0044	a0001c0001t0005g0075 a0001c0001t0013g0034 a0001c0001t0017g0047 others(7): Show a0001c0001t0005g0075 a0001c0001t0013g0034 a0001c0001t0017g0047 a0001c0002t0004g0057 a0001c0002t0104g0175 a0001c0003t0002g0074 a0001c0003t0002g0211 a0001c0003t0002g0230 a0001c0003t0007g0121 a0008c0020t0044g0040	10	256	0.0391	28	c.982 others(43): Show c.982+778_982+779insTATATATATATATATATATACACACACA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	7/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114491012	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01952.hp1 HG03704.hp2 others(2): Show HG00438.hp1 HG01952.hp1 HG03704.hp2 NA18952.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0138 a0001c0003t0014 a0001c0003t0129 others(2): Show a0001c0001t0138 a0001c0003t0014 a0001c0003t0129 a0001c0003t0136 a0001c0003t0140	a0001c0001t0138g0106 a0001c0003t0014g0200 a0001c0003t0129g0218 others(2): Show a0001c0001t0138g0106 a0001c0003t0014g0200 a0001c0003t0129g0218 a0001c0003t0136g0045 a0001c0003t0140g0209	5	256	0.0195	28	c.982 others(43): Show c.982+778_982+779insTATATATATATATATATACACACACACA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	7/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114491012	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG04199.hp2 NA18964.hp1 HG03831.hp1 HG04199.hp2 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0015 a0001c0002 a0001c0003 a0001c0015	a0001c0002t0066 a0001c0003t0150 a0001c0015t0054 a0001c0002t0066 a0001c0003t0150 a0001c0015t0054	a0001c0002t0066g0170 a0001c0003t0150g0220 a0001c0015t0054g0060 a0001c0002t0066g0170 a0001c0003t0150g0220 a0001c0015t0054g0060	3	256	0.0117	28	c.982 others(43): Show c.982+778_982+779insTATATATATATATATACACACACACACA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	7/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114491012	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02809.hp2 NA18979.hp2 HG02647.hp2 HG02809.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0064 a0001c0002t0074 a0001c0004t0019 a0001c0001t0064 a0001c0002t0074 a0001c0004t0019	a0001c0001t0064g0051 a0001c0002t0074g0013 a0001c0004t0019g0016 a0001c0001t0064g0051 a0001c0002t0074g0013 a0001c0004t0019g0016	3	256	0.0117	28	c.982 others(43): Show c.982+778_982+779insTATATATATATATACACACACACACACA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	7/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114491012	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0077 a0001c0002t0077	a0001c0002t0077g0018 a0001c0002t0077g0018	1	256	0.0039	28	c.982 others(43): Show c.982+778_982+779insTATATATATATACACACACACACACACA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	7/22			chr10	TogoVar
ABLIM2_chr4_7960327_8163813	7969730	G G	GACACACA others(21): Show GACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00597.hp1 others(4): Show HG00408.hp1 HG00544.hp1 HG00597.hp1 HG01069.hp2 HG01943.hp2 NA18983.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0061 a0001c0001t0001g0095 a0001c0001t0001g0173 others(4): Show a0001c0001t0001g0061 a0001c0001t0001g0095 a0001c0001t0001g0173 a0001c0001t0001g0187 a0001c0001t0001g0279 a0001c0001t0001g0318 a0001c0003t0001g0101	7	322	0.0217	28	c.182 others(47): Show c.1825-2655_1825-2628dupGTGTGTGTGTGTGTGTGTGTGTGTGT GT	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	20/20			chr4	TogoVar
ABLIM2_chr4_7960327_8163813	7973075	C C	CTCTGTGT others(21): Show CTCTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19063.hp1 NA18971.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0166 a0001c0002t0003g0245 a0001c0001t0003g0166 a0001c0002t0003g0245	2	322	0.0062	28	c.182 others(47): Show c.1825-5973_1825-5972insCACACACACACACACACACACACACA GA	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	20/20			chr4	TogoVar
ABLIM2_chr4_7960327_8163813	7973075	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03130.hp1 HG04184.hp2 HG02976.hp2 HG03130.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0031 a0001c0001t0002 a0001c0002t0031	a0001c0001t0002g0230 a0001c0001t0002g0283 a0001c0002t0031g0319 a0001c0001t0002g0230 a0001c0001t0002g0283 a0001c0002t0031g0319	3	322	0.0093	28	c.182 others(47): Show c.1825-6000_1825-5973dupCACACACACACACACACACACACACA CA	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	20/20			chr4	TogoVar
ABLIM3_chr5_149136493_149265542	149169064	C C	CACCACTG others(21): Show CACCACTGACTTTGCTGTAGGACCCCTCA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0110 a0001c0001t0005g0110	1	258	0.0039	28	c.14- others(45): Show c.14-14363_14-14362insTCAACCACTGACTTTGCTGTAGGACCCC	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
ABLIM3_chr5_149136493_149265542	149169086	C C	CCCCTCAA others(21): Show CCCCTCAACCACTGACTTTGCTGTAGGAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp2 HG02647.hp1 others(5): Show HG01884.hp1 HG02258.hp2 HG02647.hp1 HG02818.hp1 HG02965.hp1 HG03041.hp2 HG03195.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0004 others(1): Show a0001c0001 a0001c0006 a0002c0004 a0002c0005	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0006t0017 a0002c0004t0004 a0002c0005t0013	a0001c0001t0003g0088 a0001c0001t0004g0089 a0001c0001t0005g0087 others(5): Show a0001c0001t0003g0088 a0001c0001t0004g0089 a0001c0001t0005g0087 a0001c0006t0017g0071 a0002c0004t0004g0014 a0002c0004t0004g0090 a0002c0004t0004g0091 a0002c0005t0013g0020	8	258	0.0310	28	c.14- others(45): Show c.14-14363_14-14362insTCAACCACTGACTTTGCTGTAGGAACCC	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
ABRA_chr8_106754483_106775244	106758499	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp2 NA19083.hp1 NA18995.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0013 a0001c0001t0005g0013	2	440	0.0046	28	c.25 others(39): Show c.2537_*2538insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ABRA	ENSG00000174429.4	transcript	ENST00000311955.4	protein_coding		983		chr8	TogoVar
ABR_chr17_998519_1184981	999323	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01361.hp2 HG01496.hp1 HG01081.hp1 HG01361.hp2 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0217 a0001c0001t0008g0025 a0001c0001t0008g0026 a0001c0001t0003g0217 a0001c0001t0008g0025 a0001c0001t0008g0026	3	337	0.0089	28	c.67 others(39): Show c.6729_*6756dupTATATATATATATATATATATATATATA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding		4195		chr17	TogoVar
ABR_chr17_998519_1184981	999358	T T	TATATATA others(21): Show TATATATATATATATATATACATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0113 a0001c0001t0017g0113	1	337	0.0030	28	c.67 others(39): Show c.6721_*6722insGTATATATGTATATATATATATATATAT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding		4160		chr17	TogoVar

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