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
A1BG_chr19_58340183_58358492	58347688	GCCCCAGG others(5): Show GCCCCAGGCCACA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18522.hp2 HG02486.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	2	386	0.0052	-12	c.119 others(27): Show c.1193-60_1193-49delTGTGGCCTGGGG	A1BG	ENSG00000121410.12	transcript	ENST00000263100.8	protein_coding	6/7			chr19	TogoVar
A2ML1_chr12_8817621_8881787	8841013	CGGAAGGA others(5): Show CGGAAGGAAGGAA	C C	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA18954.hp1 NA18960.hp2 HG03927.hp1 NA18954.hp1 NA18960.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0001c0068 a0002c0007 a0001c0008 a0001c0068 a0002c0007	a0001c0008t0001 a0001c0068t0002 a0002c0007t0003 a0001c0008t0001 a0001c0068t0002 a0002c0007t0003	a0001c0008t0001g0269 a0001c0068t0002g0333 a0002c0007t0003g0268 a0001c0008t0001g0269 a0001c0068t0002g0333 a0002c0007t0003g0268	3	368	0.0082	-12	c.108 others(29): Show c.1081-343_1081-332delGGAAGGAAGGAA	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	10/35		INFO_REALIGN_3_PRIME	chr12	TogoVar
A2ML1_chr12_8817621_8881787	8870379	TGCCTCAG others(5): Show TGCCTCAGCCTCC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG02055.hp1 others(13): Show HG01168.hp1 HG01169.hp1 HG02055.hp1 HG02572.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02970.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG06807.hp1 NA18522.hp1 NA19240.hp2 NA20300.hp2	a0004 a0010 a0015 others(3): Show a0004 a0010 a0015 a0030 a0034 a0039	a0004c0014 a0004c0040 a0004c0064 others(6): Show a0004c0014 a0004c0040 a0004c0064 a0010c0020 a0010c0065 a0015c0019 a0030c0051 a0034c0052 a0039c0037	a0004c0014t0004 a0004c0040t0004 a0004c0064t0002 others(6): Show a0004c0014t0004 a0004c0040t0004 a0004c0064t0002 a0010c0020t0005 a0010c0065t0005 a0015c0019t0004 a0030c0051t0005 a0034c0052t0005 a0039c0037t0006	a0004c0014t0004g0159 a0004c0014t0004g0215 a0004c0014t0004g0237 others(13): Show a0004c0014t0004g0159 a0004c0014t0004g0215 a0004c0014t0004g0237 a0004c0014t0004g0238 a0004c0040t0004g0219 a0004c0064t0002g0351 a0010c0020t0005g0023 a0010c0020t0005g0024 a0010c0020t0005g0037 a0010c0065t0005g0313 a0015c0019t0004g0014 a0015c0019t0004g0197 a0015c0019t0004g0198 a0030c0051t0005g0217 a0034c0052t0005g0360 a0039c0037t0006g0166	16	368	0.0435	-12	c.422 others(31): Show c.4221+1177_4221+1188delGCCTCAGCCTCC	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	33/35			chr12	TogoVar
A2M_chr12_9062708_9120919	9065151	TCCCCCCC others(5): Show TCCCCCCCCCCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0040 a0001c0015t0002g0040	1	332	0.0030	-12	c.26 others(23): Show c.2660_*2671delGGGGGGGGGGGG	A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding		2556		chr12	TogoVar
A2M_chr12_9062708_9120919	9075573	ATAGTGTT others(5): Show ATAGTGTTGAACT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp2 HG02922.hp2 others(6): Show HG02258.hp1 HG02486.hp2 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03225.hp1 HG03471.hp2 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0088 a0001c0001t0002g0089 others(4): Show a0001c0001t0002g0005 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093	9	332	0.0271	-12	c.353 others(29): Show c.3533-802_3533-791delAGTTCAACACTA	A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding	28/35			chr12	TogoVar
A2M_chr12_9062708_9120919	9093891	TCAAACAA others(5): Show TCAAACAAACAAA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0015 a0015	a0015c0020 a0015c0020	a0015c0020t0002 a0015c0020t0002	a0015c0020t0002g0080 a0015c0020t0002g0080	1	332	0.0030	-12	c.212 others(29): Show c.2126-324_2126-313delTTTGTTTGTTTG	A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding	17/35			chr12	TogoVar
A2M_chr12_9062708_9120919	9116882	TGTATAAA others(5): Show TGTATAAAATACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00423.hp2 others(142): Show HG00099.hp1 HG00140.hp1 HG00423.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01256.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18953.hp2 NA18965.hp2 NA18969.hp2 NA18970.hp1 NA18974.hp1 NA18979.hp2 NA18982.hp2 NA18990.hp1 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19001.hp1 NA19003.hp2 NA19005.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19066.hp1 NA19066.hp2 NA19080.hp1 NA19086.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0009 others(5): Show a0001 a0002 a0009 a0012 a0013 a0014 a0015 a0016	a0001c0001 a0001c0003 a0001c0005 others(12): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0001c0015 a0001c0021 a0001c0022 a0002c0002 a0002c0010 a0009c0012 a0012c0014 a0013c0016 a0014c0019 a0015c0020 a0016c0013	a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 a0001c0005t0002 a0001c0009t0002 a0001c0015t0002 a0001c0021t0002 a0001c0022t0002 a0002c0002t0002 a0002c0010t0002 a0009c0012t0002 a0012c0014t0002 a0013c0016t0002 a0014c0019t0002 a0015c0020t0002 a0016c0013t0002	a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0012 others(119): Show a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0003g0037 a0001c0003t0002g0003 a0001c0003t0002g0014 a0001c0003t0002g0048 a0001c0003t0002g0073 a0001c0003t0002g0074 a0001c0003t0002g0075 a0001c0003t0002g0077 a0001c0005t0002g0019 a0001c0005t0002g0134 a0001c0005t0002g0135 a0001c0005t0002g0136 a0001c0005t0002g0137 a0001c0005t0002g0142 a0001c0009t0002g0082 a0001c0009t0002g0083 a0001c0015t0002g0040 a0001c0021t0002g0076 a0001c0022t0002g0039 a0002c0002t0002g0004 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0038 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0105 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0010t0002g0138 a0002c0010t0002g0140 a0009c0012t0002g0094 a0012c0014t0002g0079 a0013c0016t0002g0139 a0014c0019t0002g0043 a0015c0020t0002g0080 a0016c0013t0002g0049	145	332	0.4368	-12	c.-10 others(23): Show c.-1045_-1034delTGTATTTTATAC	A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding		964		chr12	TogoVar
A3GALT2_chr1_33301766_33326098	33308750	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0098 a0001c0001t0000g0098	1	418	0.0024	-12	c.336 others(29): Show c.336-1309_336-1298delAAAAAAAAAAAA	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	4/4			chr1	TogoVar
A3GALT2_chr1_33301766_33326098	33314056	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0253 a0001c0001t0000g0253	1	418	0.0024	-12	c.24- others(27): Show c.24-1178_24-1167delAAAAAAAAAAAA	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	1/4			chr1	TogoVar
A4GALT_chr22_42687121_42725870	42703106	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA21309.hp2 HG02809.hp2 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0017 a0002c0003t0017	a0002c0003t0017g0263 a0002c0003t0017g0267 a0002c0003t0017g0263 a0002c0003t0017g0267	2	406	0.0049	-12	c.-18 others(31): Show c.-187-7487_-187-7476delCACACACACACA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42722157	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp1 NA19091.hp2 NA19072.hp1 NA19091.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0003c0004t0006 a0001c0001t0002 a0003c0004t0006	a0001c0001t0002g0113 a0003c0004t0006g0225 a0001c0001t0002g0113 a0003c0004t0006g0225	2	406	0.0049	-12	c.-15 others(23): Show c.-1560_-1549delTTTTTTTTTTTT	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding		1288		chr22	TogoVar
AAAS_chr12_53302460_53326610	53316764	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02083.hp2 HG02135.hp2 others(5): Show HG02027.hp2 HG02083.hp2 HG02135.hp2 HG02523.hp1 HG03669.hp1 HG04228.hp1 NA18747.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0043 a0001c0001t0001g0152 a0001c0001t0001g0007 a0001c0001t0001g0043 a0001c0001t0001g0152	8	330	0.0242	-12	c.252 others(27): Show c.252-994_252-983delTTTTTTTTTTTT	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	2/15			chr12	TogoVar
AACS_chr12_125060435_125148316	125062916	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	364	0.0028	-12	c.-26 others(23): Show c.-2668_-2657delGTGTGTGTGTGT	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding		2518		chr12	TogoVar
AACS_chr12_125060435_125148316	125068985	ATGCAACA others(5): Show ATGCAACACCAAG	A A	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0333 a0001c0001t0001g0333	1	364	0.0028	-12	c.133 others(29): Show c.133+3269_133+3280delTGCAACACCAAG	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	1/17			chr12	TogoVar
AACS_chr12_125060435_125148316	125094978	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03139.hp1 HG03471.hp2 others(3): Show HG02040.hp2 HG03139.hp1 HG03471.hp2 HG03486.hp2 NA18966.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0015 others(2): Show a0001c0001 a0001c0004 a0001c0015 a0002c0002 a0002c0010	a0001c0001t0001 a0001c0004t0004 a0001c0015t0001 others(2): Show a0001c0001t0001 a0001c0004t0004 a0001c0015t0001 a0002c0002t0001 a0002c0010t0001	a0001c0001t0001g0010 a0001c0004t0004g0209 a0001c0004t0004g0241 others(3): Show a0001c0001t0001g0010 a0001c0004t0004g0209 a0001c0004t0004g0241 a0001c0015t0001g0070 a0002c0002t0001g0075 a0002c0010t0001g0018	6	364	0.0165	-12	c.570 others(29): Show c.570+3490_570+3501delGTGTGTGTGTGT	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
AACS_chr12_125060435_125148316	125103987	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	364	0.0028	-12	c.767 others(27): Show c.767+927_767+938delAAAAAAAAAAAA	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
AACS_chr12_125060435_125148316	125110189	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01099.hp1 HG01109.hp2 others(34): Show HG00735.hp2 HG01099.hp1 HG01109.hp2 HG01169.hp1 HG01261.hp1 HG01928.hp1 HG01981.hp2 HG02109.hp1 HG02109.hp2 HG02486.hp2 HG02572.hp1 HG02647.hp1 HG02683.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG04184.hp2 NA18943.hp2 NA18952.hp1 NA18959.hp2 NA18967.hp1 NA19012.hp2 NA19043.hp2 NA19078.hp1 NA20129.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0015 others(5): Show a0001c0001 a0001c0003 a0001c0015 a0002c0002 a0002c0005 a0002c0007 a0002c0010 a0004c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0003t0001 a0001c0015t0001 a0002c0002t0001 a0002c0002t0006 a0002c0002t0007 a0002c0005t0001 a0002c0007t0001 a0002c0010t0001 a0004c0018t0003	a0001c0001t0001g0038 a0001c0001t0001g0062 a0001c0001t0001g0066 others(34): Show a0001c0001t0001g0038 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0085 a0001c0001t0001g0233 a0001c0001t0001g0300 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0332 a0001c0001t0001g0340 a0001c0001t0001g0345 a0001c0001t0001g0358 a0001c0001t0003g0219 a0001c0001t0003g0292 a0001c0001t0003g0324 a0001c0001t0005g0106 a0001c0003t0001g0355 a0001c0015t0001g0070 a0002c0002t0001g0075 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0111 a0002c0002t0001g0134 a0002c0002t0001g0142 a0002c0002t0001g0144 a0002c0002t0006g0136 a0002c0002t0007g0279 a0002c0005t0001g0015 a0002c0005t0001g0019 a0002c0005t0001g0021 a0002c0005t0001g0025 a0002c0007t0001g0017 a0002c0010t0001g0018 a0004c0018t0003g0280	37	364	0.1017	-12	c.915 others(29): Show c.915+2971_915+2982delGTGTGTGTGTGT	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
AACS_chr12_125060435_125148316	125117686	TTCAGAAA others(5): Show TTCAGAAAGCAGC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	364	0.0028	-12	c.997 others(27): Show c.997-951_997-940delGAAAGCAGCTCA	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
AADACL2_chr3_151728927_151766339	151761192	TATACATA others(5): Show TATACATATTGTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG01891.hp2 others(11): Show HG00280.hp2 HG00558.hp2 HG01891.hp2 HG02723.hp1 HG02922.hp2 HG03540.hp2 HG03834.hp2 NA18945.hp2 NA18946.hp2 NA18977.hp1 NA18983.hp2 NA18984.hp1 NA19004.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0002 a0001c0001t0008g0009 a0001c0001t0008g0032 others(4): Show a0001c0001t0008g0002 a0001c0001t0008g0009 a0001c0001t0008g0032 a0001c0001t0008g0035 a0001c0001t0008g0036 a0001c0001t0008g0064 a0001c0001t0008g0068	14	428	0.0327	-12	c.36 others(23): Show c.3602_*3613delCATATTGTGATA	AADACL2	ENSG00000197953.6	transcript	ENST00000356517.4	protein_coding	5/5	3602	INFO_REALIGN_3_PRIME	chr3	TogoVar
AADACL4_chr1_12639085_12672076	12645261	CCCTCCCT others(5): Show CCCTCCCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03041.hp1 NA18522.hp2 HG02809.hp1 HG03041.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0003g0065 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0003g0065	3	310	0.0097	-12	c.168 others(27): Show c.168+551_168+562delCCCTCCCTTCCT	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12658131	CCTTCCTT others(5): Show CCTTCCTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG03017.hp1 HG01069.hp1 HG01071.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0100 a0001c0001t0001g0211 a0001c0001t0001g0089 a0001c0001t0001g0100 a0001c0001t0001g0211	3	310	0.0097	-12	c.386 others(29): Show c.386-3656_386-3645delCCTTCCTTTCTT	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AADAT_chr4_170055222_170094956	170066764	GTTGTCTA others(5): Show GTTGTCTAAATAC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02965.hp2 NA18906.hp1 HG02622.hp1 HG02965.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0189 a0001c0001t0001g0044 a0001c0001t0001g0189	3	378	0.0079	-12	c.963 others(27): Show c.963-298_963-287delGTATTTAGACAA	AADAT	ENSG00000109576.14	transcript	ENST00000337664.9	protein_coding	9/12			chr4	TogoVar
AAGAB_chr15_67195667_67259661	67196180	AAAAAAAA others(5): Show AAAAAAAAAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 NA18971.hp2 HG04115.hp1 NA18971.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0020 a0002c0002t0003 a0001c0001t0020 a0002c0002t0003	a0001c0001t0020g0023 a0002c0002t0003g0239 a0001c0001t0020g0023 a0002c0002t0003g0239	2	380	0.0053	-12	c.66 others(23): Show c.6629_*6640delCTTTTTTTTTTT	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding		4486		chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222238	GCGCGCAC others(5): Show GCGCGCACACACA	G G	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	2	380	0.0053	-12	c.535 others(29): Show c.535+9564_535+9575delTGTGTGTGCGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222240	GCGCACAC others(5): Show GCGCACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02818.hp1 HG03516.hp1 others(1): Show HG01109.hp1 HG02818.hp1 HG03516.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0340 a0001c0001t0001g0344 others(1): Show a0001c0001t0001g0273 a0001c0001t0001g0340 a0001c0001t0001g0344 a0001c0001t0001g0345	4	380	0.0105	-12	c.535 others(29): Show c.535+9562_535+9573delTGTGTGTGTGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAK1_chr2_69452997_69648739	69582373	GCGTGTGT others(5): Show GCGTGTGTGTGCA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02280.hp2 HG02809.hp2 others(6): Show HG01243.hp2 HG02280.hp2 HG02809.hp2 HG02896.hp1 HG02922.hp1 HG02976.hp2 HG04115.hp2 HG06807.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0009 a0001c0001 a0001c0007 a0001c0009	a0001c0001t0021 a0001c0001t0140 a0001c0007t0021 others(5): Show a0001c0001t0021 a0001c0001t0140 a0001c0007t0021 a0001c0007t0034 a0001c0007t0035 a0001c0007t0148 a0001c0009t0035 a0001c0009t0125	a0001c0001t0021g0278 a0001c0001t0140g0269 a0001c0007t0021g0276 others(6): Show a0001c0001t0021g0278 a0001c0001t0140g0269 a0001c0007t0021g0276 a0001c0007t0021g0279 a0001c0007t0034g0270 a0001c0007t0035g0271 a0001c0007t0148g0277 a0001c0009t0035g0190 a0001c0009t0125g0179	9	298	0.0302	-12	c.164 others(31): Show c.164-25407_164-25396delTGCACACACACG	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	2/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69582385	ACGTGTGT others(5): Show ACGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0036 a0004c0012t0036	a0004c0012t0036g0283 a0004c0012t0036g0283	1	298	0.0034	-12	c.164 others(31): Show c.164-25419_164-25408delCACACACACACG	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	2/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69640043	ACACACAC others(5): Show ACACACACACACT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0081 a0001c0001t0007g0081	1	298	0.0034	-12	c.163 others(29): Show c.163+2823_163+2834delAGTGTGTGTGTG	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	2/21			chr2	TogoVar
AAMDC_chr11_77816144_77877352	77832949	ATATGTGT others(5): Show ATATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0208 a0001c0002t0002g0208	1	382	0.0026	-12	c.-18 others(29): Show c.-18-9528_-18-9517delATGTGTGTGTGT	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
AAMDC_chr11_77816144_77877352	77832951	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01071.hp2 HG01261.hp2 others(8): Show HG00323.hp1 HG01071.hp2 HG01261.hp2 HG01346.hp1 HG01516.hp1 HG01517.hp1 HG04228.hp2 NA18968.hp2 NA19060.hp1 NA19081.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 others(8): Show a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0153 a0001c0001t0001g0210 a0001c0001t0001g0293 a0001c0001t0001g0344 a0002c0003t0001g0029	11	382	0.0288	-12	c.-18 others(29): Show c.-18-9492_-18-9481delGTGTGTGTGTGT	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
AAR2_chr20_36231478_36261933	36232816	CCTCTCTC others(5): Show CCTCTCTCTCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	298	0.0034	-12	c.-37 others(23): Show c.-3735_-3724delCTCTCTCTCTCT	AAR2	ENSG00000131043.13	transcript	ENST00000320849.9	protein_coding		3661		chr20	TogoVar
AAR2_chr20_36231478_36261933	36237750	GTATTATT others(5): Show GTATTATTATTAT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp1 HG02258.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0168 a0001c0001t0001g0169	2	298	0.0067	-12	c.-49 others(29): Show c.-49+1285_-49+1296delATTATTATTATT	AAR2	ENSG00000131043.13	transcript	ENST00000320849.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
AAR2_chr20_36231478_36261933	36242364	TTTGTTGT others(5): Show TTTGTTGTTGTTG	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp2 HG01169.hp1 others(27): Show HG00738.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01361.hp1 HG02109.hp2 HG02257.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02717.hp1 HG02886.hp1 HG02886.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 NA18522.hp1 NA18906.hp2 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0002 a0001c0002t0011 a0001c0007t0002 a0001c0002t0002 a0001c0002t0011 a0001c0007t0002	a0001c0002t0002g0005 a0001c0002t0002g0031 a0001c0002t0002g0036 others(18): Show a0001c0002t0002g0005 a0001c0002t0002g0031 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0075 a0001c0002t0002g0088 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0165 a0001c0002t0002g0183 a0001c0002t0002g0184 a0001c0002t0002g0190 a0001c0002t0011g0166 a0001c0007t0002g0191	30	298	0.1007	-12	c.757 others(29): Show c.757+1773_757+1784delTTGTTGTTGTTG	AAR2	ENSG00000131043.13	transcript	ENST00000320849.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
AAR2_chr20_36231478_36261933	36258856	AAAAAAAA others(5): Show AAAAAAAAAAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0166 a0001c0002t0011g0166	1	298	0.0034	-12	c.31 others(23): Show c.3112_*3123delAAAAAAAAAAAC	AAR2	ENSG00000131043.13	transcript	ENST00000320849.9	protein_coding		1924		chr20	TogoVar
AARS1_chr16_70247298_70294506	70269322	GAAAAAAA others(5): Show GAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02809.hp2 NA18994.hp1 HG02055.hp2 HG02809.hp2 NA18994.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0001 a0001c0002t0003 a0002c0004t0001 a0001c0002t0001 a0001c0002t0003 a0002c0004t0001	a0001c0002t0001g0155 a0001c0002t0003g0322 a0002c0004t0001g0342 a0001c0002t0001g0155 a0001c0002t0003g0322 a0002c0004t0001g0342	3	362	0.0083	-12	c.962 others(27): Show c.962+284_962+295delTTTTTTTTTTTT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	7/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70271174	CCAAAAAC others(5): Show CCAAAAACAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0332	1	362	0.0028	-12	c.671 others(27): Show c.671+595_671+606delTTTTTGTTTTTG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	5/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70272506	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18970.hp1 NA18980.hp1 others(1): Show NA18955.hp2 NA18970.hp1 NA18980.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0088 a0001c0001t0001g0089 others(1): Show a0001c0001t0001g0038 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0137	4	362	0.0111	-12	c.480 others(27): Show c.480-546_480-535delTTTTTTTTTTTT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	4/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70275936	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0246 a0001c0002t0001g0246	1	362	0.0028	-12	c.479 others(27): Show c.479+538_479+549delTTTTTTTTTTTT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	4/20			chr16	TogoVar
AARSD1_chr17_42945526_42969454	42965994	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	324	0.0031	-12	c.-15 others(23): Show c.-1566_-1555delTTTTTTTTTTTT	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding		1541		chr17	TogoVar
AASDHPPT_chr11_106072662_106103695	106098918	CATGTCTC others(5): Show CATGTCTCCAAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	404	0.0025	-12	c.20 others(23): Show c.2012_*2023delATGTCTCCAAAT	AASDHPPT	ENSG00000149313.11	transcript	ENST00000278618.9	protein_coding		224		chr11	TogoVar
AASS_chr7_122068549_122149249	122117638	CTATTTAT others(5): Show CTATTTATTTATT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03130.hp2 HG03471.hp2 HG02622.hp2 HG03130.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0063 a0001c0003t0010g0064 a0001c0003t0010g0065 a0001c0003t0010g0063 a0001c0003t0010g0064 a0001c0003t0010g0065	3	384	0.0078	-12	c.687 others(27): Show c.687+657_687+668delAATAAATAAATA	AASS	ENSG00000008311.16	transcript	ENST00000417368.7	protein_coding	6/23			chr7	TogoVar
AASS_chr7_122068549_122149249	122142351	TAACAGTA others(5): Show TAACAGTAGACTC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02970.hp2 HG02622.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	2	384	0.0052	-12	c.-16 others(29): Show c.-16+1798_-16+1809delGAGTCTACTGTT	AASS	ENSG00000008311.16	transcript	ENST00000417368.7	protein_coding	1/23			chr7	TogoVar
AASS_chr7_122068549_122149249	122142353	ACAGTAGA others(5): Show ACAGTAGACTCAC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02257.hp1 HG02280.hp1 others(3): Show HG00639.hp1 HG02257.hp1 HG02280.hp1 HG02809.hp2 HG03579.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0035 a0001c0001t0001g0315 a0001c0001t0001g0316 others(2): Show a0001c0001t0001g0035 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0014g0317	6	384	0.0156	-12	c.-16 others(29): Show c.-16+1796_-16+1807delGTGAGTCTACTG	AASS	ENSG00000008311.16	transcript	ENST00000417368.7	protein_coding	1/23			chr7	TogoVar
AATF_chr17_36943954_37061871	36970534	CTTTTTTC others(5): Show CTTTTTTCTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00558.hp2 others(28): Show HG00408.hp1 HG00544.hp2 HG00558.hp2 HG00639.hp2 HG00642.hp2 HG01074.hp1 HG02027.hp1 HG02040.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG03239.hp1 HG03834.hp2 NA18940.hp2 NA18943.hp2 NA18945.hp1 NA18963.hp2 NA18985.hp1 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19075.hp2 NA19082.hp1 NA19084.hp2 NA19088.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0147 a0001c0001t0001g0242 a0001c0001t0002g0001 others(27): Show a0001c0001t0001g0147 a0001c0001t0001g0242 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0215 a0001c0001t0002g0216	31	245	0.1265	-12	c.833 others(31): Show c.833-16076_833-16065delCTTTTTTTTTTT	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
AATF_chr17_36943954_37061871	37001405	GAGGAAGG others(5): Show GAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02976.hp2 HG02486.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0108 a0001c0003t0004g0046 a0001c0001t0001g0108 a0001c0003t0004g0046	2	245	0.0082	-12	c.139 others(33): Show c.1398+10587_1398+10598delGAAGGAAGGAAG	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
AATF_chr17_36943954_37061871	37046730	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0140 a0001c0002t0002g0140	1	245	0.0041	-12	c.162 others(31): Show c.1620-9842_1620-9831delACACACACACAC	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
AATK_chr17_81112295_81171221	81141949	TTCCTTTC others(5): Show TTCCTTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp2 HG02015.hp2 others(4): Show HG00558.hp1 HG00609.hp2 HG02015.hp2 HG03927.hp2 NA18982.hp1 NA19011.hp2 NA19090.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0001c0004 a0002c0002 others(3): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003 a0006c0017 a0007c0008	a0001c0001t0002 a0001c0004t0002 a0002c0002t0001 others(3): Show a0001c0001t0002 a0001c0004t0002 a0002c0002t0001 a0003c0003t0002 a0006c0017t0002 a0007c0008t0001	a0001c0001t0002g0234 a0001c0004t0002g0075 a0002c0002t0001g0171 others(4): Show a0001c0001t0002g0234 a0001c0004t0002g0075 a0002c0002t0001g0171 a0003c0003t0002g0095 a0003c0003t0002g0109 a0006c0017t0002g0094 a0007c0008t0001g0227	7	368	0.0190	-12	c.56- others(27): Show c.56-7460_56-7449delGGAAGGAAAGGA	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	1/13			chr17	TogoVar
AATK_chr17_81112295_81171221	81148064	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp1 others(96): Show HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01516.hp2 HG01943.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02109.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02683.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03017.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03516.hp1 HG03516.hp2 HG03710.hp2 HG04184.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18945.hp1 NA18952.hp2 NA18954.hp1 NA18966.hp1 NA18970.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp2 NA18985.hp1 NA18998.hp1 NA19002.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19057.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19082.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0006 a0007 a0010 a0012 a0013 a0016 a0022 a0024 a0034 a0035	a0001c0001 a0001c0004 a0001c0011 others(21): Show a0001c0001 a0001c0004 a0001c0011 a0002c0002 a0002c0073 a0003c0003 a0003c0007 a0003c0009 a0003c0020 a0003c0024 a0003c0045 a0004c0005 a0006c0012 a0006c0013 a0006c0017 a0007c0008 a0010c0030 a0012c0016 a0013c0015 a0016c0026 a0022c0054 a0024c0052 a0034c0038 a0035c0063	a0001c0001t0001 a0001c0004t0002 a0001c0011t0001 others(24): Show a0001c0001t0001 a0001c0004t0002 a0001c0011t0001 a0002c0002t0001 a0002c0002t0007 a0002c0002t0018 a0002c0073t0007 a0003c0003t0001 a0003c0003t0002 a0003c0007t0001 a0003c0009t0001 a0003c0020t0001 a0003c0024t0001 a0003c0045t0002 a0004c0005t0001 a0006c0012t0001 a0006c0013t0001 a0006c0017t0002 a0007c0008t0001 a0010c0030t0001 a0012c0016t0001 a0013c0015t0008 a0016c0026t0001 a0022c0054t0001 a0024c0052t0001 a0034c0038t0001 a0035c0063t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(87): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0305 a0001c0004t0002g0141 a0001c0004t0002g0264 a0001c0011t0001g0198 a0002c0002t0001g0010 a0002c0002t0001g0117 a0002c0002t0001g0128 a0002c0002t0001g0134 a0002c0002t0001g0137 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0161 a0002c0002t0001g0171 a0002c0002t0001g0193 a0002c0002t0007g0140 a0002c0002t0007g0148 a0002c0002t0007g0175 a0002c0002t0018g0151 a0002c0073t0007g0196 a0003c0003t0001g0195 a0003c0003t0001g0240 a0003c0003t0002g0096 a0003c0003t0002g0112 a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0135 a0003c0003t0002g0142 a0003c0003t0002g0152 a0003c0003t0002g0154 a0003c0003t0002g0159 a0003c0003t0002g0160 a0003c0003t0002g0162 a0003c0003t0002g0197 a0003c0007t0001g0121 a0003c0007t0001g0190 a0003c0009t0001g0158 a0003c0020t0001g0008 a0003c0024t0001g0191 a0003c0045t0002g0156 a0004c0005t0001g0122 a0004c0005t0001g0180 a0006c0012t0001g0146 a0006c0012t0001g0226 a0006c0013t0001g0013 a0006c0013t0001g0205 a0006c0013t0001g0224 a0006c0017t0002g0124 a0006c0017t0002g0126 a0007c0008t0001g0118 a0010c0030t0001g0289 a0012c0016t0001g0168 a0012c0016t0001g0170 a0013c0015t0008g0001 a0016c0026t0001g0011 a0022c0054t0001g0225 a0024c0052t0001g0165 a0034c0038t0001g0169 a0035c0063t0001g0111	99	368	0.2690	-12	c.56- others(29): Show c.56-13575_56-13564delTTTTTTTTTTTT	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	1/13			chr17	TogoVar
AATK_chr17_81112295_81171221	81154270	TATACCCT others(5): Show TATACCCTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03239.hp2 HG03491.hp1 others(2): Show HG02735.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03834.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0009 a0004c0005 a0001c0001 a0003c0009 a0004c0005	a0001c0001t0005 a0003c0009t0005 a0004c0005t0005 a0001c0001t0005 a0003c0009t0005 a0004c0005t0005	a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0028 others(2): Show a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0028 a0003c0009t0005g0027 a0004c0005t0005g0024	5	368	0.0136	-12	c.55+ others(29): Show c.55+11656_55+11667delGAAAAAGGGTAT	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	1/13			chr17	TogoVar
AATK_chr17_81112295_81171221	81156257	CATGTTAC others(5): Show CATGTTACAATGT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0017 a0017	a0017c0074 a0017c0074	a0017c0074t0001 a0017c0074t0001	a0017c0074t0001g0182 a0017c0074t0001g0182	1	368	0.0027	-12	c.55+ others(27): Show c.55+9669_55+9680delACATTGTAACAT	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	1/13			chr17	TogoVar

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