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
ASAP1_chr8_130047104_130448674	130276687	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03139.hp1 HG02886.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0278 a0001c0009t0001g0232 a0001c0001t0001g0278 a0001c0009t0001g0232	2	308	0.0065	-14	c.187 others(33): Show c.187-39707_187-39694delGTGTGTGTGTGTGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130373109	TATACACA others(7): Show TATACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01192.hp1 others(38): Show HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01943.hp1 HG01978.hp1 HG02293.hp2 HG02723.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG03017.hp1 HG03098.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp1 NA18522.hp1 NA18943.hp1 NA18946.hp2 NA18969.hp1 NA18975.hp1 NA18984.hp2 NA19002.hp1 NA19007.hp2 NA19011.hp2 NA19043.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0007 others(3): Show a0001c0001 a0001c0004 a0001c0007 a0001c0008 a0001c0013 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0004t0002 a0001c0007t0001 a0001c0007t0007 a0001c0008t0001 a0001c0013t0001 a0002c0002t0001 a0002c0002t0005 a0002c0002t0013 a0002c0002t0022 a0002c0002t0026 a0002c0002t0029	a0001c0001t0001g0053 a0001c0001t0001g0097 a0001c0001t0001g0163 others(38): Show a0001c0001t0001g0053 a0001c0001t0001g0097 a0001c0001t0001g0163 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0002g0089 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0013g0302 a0001c0004t0002g0151 a0001c0007t0001g0037 a0001c0007t0007g0001 a0001c0008t0001g0244 a0001c0013t0001g0156 a0002c0002t0001g0009 a0002c0002t0001g0066 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0090 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0096 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0101 a0002c0002t0001g0103 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0276 a0002c0002t0005g0291 a0002c0002t0013g0301 a0002c0002t0022g0242 a0002c0002t0026g0062 a0002c0002t0029g0095	41	308	0.1331	-14	c.60- others(31): Show c.60-14980_60-14967delGTGTGTGTGTGTAT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	2/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130445972	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG02886.hp2 HG01167.hp2 HG02886.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0002 a0001c0005t0007g0003 a0001c0005t0007g0002 a0001c0005t0007g0003	2	308	0.0065	-14	c.-25 others(25): Show c.-2554_-2541delTTTTTTTTTTTTTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2299		chr8	TogoVar
ASAP2_chr2_9201812_9410678	9352212	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp2 others(66): Show HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00642.hp2 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01975.hp1 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03139.hp1 HG03225.hp2 HG03486.hp1 HG03491.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 NA18906.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0006 a0001c0007 others(3): Show a0001c0002 a0001c0006 a0001c0007 a0001c0012 a0002c0001 a0003c0014	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(11): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0012 a0001c0002t0013 a0001c0002t0023 a0001c0006t0004 a0001c0007t0001 a0001c0007t0004 a0001c0012t0003 a0002c0001t0001 a0002c0001t0003 a0003c0014t0003	a0001c0002t0001g0024 a0001c0002t0001g0115 a0001c0002t0001g0116 others(66): Show a0001c0002t0001g0024 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0126 a0001c0002t0001g0133 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0002g0007 a0001c0002t0002g0016 a0001c0002t0002g0027 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0060 a0001c0002t0002g0069 a0001c0002t0002g0075 a0001c0002t0002g0096 a0001c0002t0002g0107 a0001c0002t0002g0129 a0001c0002t0002g0134 a0001c0002t0002g0137 a0001c0002t0002g0139 a0001c0002t0002g0162 a0001c0002t0002g0177 a0001c0002t0002g0187 a0001c0002t0002g0198 a0001c0002t0002g0202 a0001c0002t0003g0026 a0001c0002t0003g0050 a0001c0002t0003g0052 a0001c0002t0003g0059 a0001c0002t0003g0062 a0001c0002t0003g0094 a0001c0002t0003g0124 a0001c0002t0003g0141 a0001c0002t0003g0142 a0001c0002t0003g0147 a0001c0002t0003g0149 a0001c0002t0003g0150 a0001c0002t0003g0151 a0001c0002t0003g0152 a0001c0002t0003g0166 a0001c0002t0003g0188 a0001c0002t0003g0209 a0001c0002t0008g0048 a0001c0002t0008g0206 a0001c0002t0012g0143 a0001c0002t0013g0001 a0001c0002t0023g0008 a0001c0006t0004g0014 a0001c0006t0004g0018 a0001c0006t0004g0032 a0001c0006t0004g0063 a0001c0006t0004g0189 a0001c0006t0004g0197 a0001c0006t0004g0204 a0001c0007t0001g0030 a0001c0007t0004g0015 a0001c0007t0004g0019 a0001c0007t0004g0037 a0001c0007t0004g0154 a0001c0007t0004g0203 a0001c0012t0003g0033 a0002c0001t0001g0023 a0002c0001t0001g0053 a0002c0001t0003g0099 a0002c0001t0003g0136 a0003c0014t0003g0051	69	210	0.3286	-14	c.111 others(33): Show c.1111+1339_1111+1352delCACACACACACACA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	12/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP3_chr1_23423563_23489179	23425176	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG02040.hp2 HG03834.hp1 others(4): Show HG00438.hp2 HG02040.hp2 HG03834.hp1 NA18968.hp2 NA18971.hp1 NA19010.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0055 others(4): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0055 a0001c0001t0001g0088 a0001c0001t0001g0192 a0001c0001t0001g0199 a0001c0001t0003g0124	7	346	0.0202	-14	c.46 others(25): Show c.4666_*4679delACACACACACACAC	ASAP3	ENSG00000088280.21	transcript	ENST00000336689.8	protein_coding		3386		chr1	TogoVar
ASAP3_chr1_23423563_23489179	23440500	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	346	0.0029	-14	c.944 others(29): Show c.944+588_944+601delTTTTTTTTTTTTTT	ASAP3	ENSG00000088280.21	transcript	ENST00000336689.8	protein_coding	10/24			chr1	TogoVar
ASAP3_chr1_23423563_23489179	23484688	CCCCCCGC others(7): Show CCCCCCGCCACCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	346	0.0029	-14	c.-56 others(23): Show c.-569_-556delAAGGGTGGCGGGGG	ASAP3	ENSG00000088280.21	transcript	ENST00000336689.8	protein_coding		510		chr1	TogoVar
ASB11_chrX_15276697_15320640	15301510	CAGACAGA others(7): Show CAGACAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03453.hp2 HG06807.hp1 others(1): Show HG02886.hp2 HG03453.hp2 HG06807.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0255 a0001c0001t0006g0256 a0001c0001t0006g0257 others(1): Show a0001c0001t0006g0255 a0001c0001t0006g0256 a0001c0001t0006g0257 a0001c0001t0006g0258	4	306	0.0131	-14	c.261 others(31): Show c.261+1204_261+1217delCTCTCTCTCTGTCT	ASB11	ENSG00000165192.14	transcript	ENST00000480796.6	protein_coding	2/6			chrX	TogoVar
ASB13_chr10_5633867_5671595	5652023	AAACCACA others(7): Show AAACCACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0128 a0001c0001t0003g0128	1	446	0.0022	-14	c.232 others(29): Show c.232-674_232-661delGTGTGTGTGTGGTT	ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	2/5			chr10	TogoVar
ASB15_chr7_123596821_123644481	123620503	CATACATA others(7): Show CATACATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02280.hp2 NA20752.hp2 HG01361.hp2 HG02280.hp2 NA20752.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0008c0009 a0001c0002 a0008c0009	a0001c0002t0001 a0008c0009t0001 a0001c0002t0001 a0008c0009t0001	a0001c0002t0001g0117 a0001c0002t0001g0354 a0008c0009t0001g0266 a0001c0002t0001g0117 a0001c0002t0001g0354 a0008c0009t0001g0266	3	380	0.0079	-14	c.451 others(31): Show c.451+2770_451+2783delCATATATATATATA	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123620546	ATATATAT others(7): Show ATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0244 a0001c0001t0037g0244	1	380	0.0026	-14	c.451 others(31): Show c.451+2811_451+2824delATATATATTTTTTT	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123620548	ATATATAT others(7): Show ATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19087.hp1 NA19009.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0321 a0001c0001t0008g0322 a0001c0001t0008g0321 a0001c0001t0008g0322	2	380	0.0053	-14	c.451 others(31): Show c.451+2813_451+2826delATATATTTTTTTTT	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123620550	ATATATTT others(7): Show ATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0344 a0001c0001t0003g0344	1	380	0.0026	-14	c.451 others(31): Show c.451+2815_451+2828delATATTTTTTTTTTT	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123640653	GGAGGGGG others(7): Show GGAGGGGGGAGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0203 a0002c0003t0002g0203	1	380	0.0026	-14	c.36 others(25): Show c.3673_*3686delGAGGGGGGAGAGGA	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding		1173		chr7	TogoVar
ASB18_chr2_236188459_236269406	236252267	TCACACAC others(7): Show TCACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp1 HG02145.hp2 HG02258.hp1	a0002 a0013 a0002 a0013	a0002c0011 a0013c0018 a0002c0011 a0013c0018	a0002c0011t0002 a0013c0018t0002 a0002c0011t0002 a0013c0018t0002	a0002c0011t0002g0118 a0013c0018t0002g0119 a0002c0011t0002g0118 a0013c0018t0002g0119	2	250	0.0080	-14	c.206 others(33): Show c.206-10879_206-10866delTGTGTGTGTGTGTG	ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	1/5			chr2	TogoVar
ASB2_chr14_93929166_93981570	93962107	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0336 a0001c0003t0001g0336	1	373	0.0027	-14	c.206 others(31): Show c.206+2213_206+2226delAAAAAAAAAAAAAA	ASB2	ENSG00000100628.12	transcript	ENST00000555019.6	protein_coding	2/9			chr14	TogoVar
ASB3_chr2_53664980_53791953	53671353	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03486.hp2 HG03579.hp1 HG02258.hp1 HG03486.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 a0001c0001t0001 a0001c0001t0004 a0001c0001t0015	a0001c0001t0001g0015 a0001c0001t0004g0014 a0001c0001t0015g0013 a0001c0001t0001g0015 a0001c0001t0004g0014 a0001c0001t0015g0013	3	350	0.0086	-14	c.137 others(31): Show c.1370-677_1370-664delACACACACACACAC	ASB3	ENSG00000115239.24	transcript	ENST00000263634.8	protein_coding	9/9			chr2	TogoVar
ASB3_chr2_53664980_53791953	53697950	GTCTCAAT others(7): Show GTCTCAATGGCAGCC	G G	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0223 a0001c0002t0002g0223	1	350	0.0029	-14	c.123 others(33): Show c.1238+2307_1238+2320delGGCTGCCATTGAGA	ASB3	ENSG00000115239.24	transcript	ENST00000263634.8	protein_coding	8/9			chr2	TogoVar
ASB4_chr7_95480943_95545233	95484994	ATGTATAT others(7): Show ATGTATATATGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01074.hp1 HG01167.hp2 others(12): Show HG00738.hp1 HG01074.hp1 HG01167.hp2 HG01169.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02148.hp1 HG02300.hp2 HG02602.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0263 a0001c0001t0001g0264 others(12): Show a0001c0001t0001g0252 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0297 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307	15	388	0.0387	-14	c.-97 others(23): Show c.-977_-964delTGTATATATGTGTG	ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding		948		chr7	TogoVar
ASB4_chr7_95480943_95545233	95493378	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18982.hp1 NA18959.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0201 a0001c0001t0001g0202	2	388	0.0052	-14	c.188 others(31): Show c.188-2366_188-2353delATGTGTGTGTGTGT	ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB4_chr7_95480943_95545233	95535419	TGATTTAT others(7): Show TGATTTATGTTCTCC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp2 HG01243.hp2 others(27): Show HG00621.hp1 HG00735.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01891.hp2 HG02293.hp1 HG02451.hp2 HG02572.hp2 HG02886.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp2 HG04199.hp1 NA18945.hp1 NA18959.hp2 NA18968.hp1 NA19001.hp2 NA19011.hp1 NA19240.hp1 NA20805.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0004 a0001c0001t0013 a0001c0001t0014 others(3): Show a0001c0001t0004 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0002c0002t0004 a0004c0004t0004	a0001c0001t0004g0011 a0001c0001t0004g0013 a0001c0001t0004g0085 others(27): Show a0001c0001t0004g0011 a0001c0001t0004g0013 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0088 a0001c0001t0004g0093 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0107 a0001c0001t0004g0109 a0001c0001t0004g0110 a0001c0001t0004g0129 a0001c0001t0004g0146 a0001c0001t0004g0161 a0001c0001t0004g0257 a0001c0001t0004g0259 a0001c0001t0004g0261 a0001c0001t0004g0338 a0001c0001t0004g0341 a0001c0001t0004g0375 a0001c0001t0013g0195 a0001c0001t0013g0196 a0001c0001t0013g0197 a0001c0001t0014g0098 a0001c0001t0014g0104 a0001c0001t0020g0096 a0002c0002t0004g0037 a0004c0004t0004g0105	30	388	0.0773	-14	c.979 others(31): Show c.979-1015_979-1002delTTTATGTTCTCCGA	ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB5_chr4_176208673_176274222	176219575	GATATATA others(7): Show GATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03225.hp2 NA20300.hp2 HG02723.hp1 HG03225.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0035 a0001c0002t0007g0064 a0001c0002t0007g0065 a0001c0002t0007g0035 a0001c0002t0007g0064 a0001c0002t0007g0065	3	410	0.0073	-14	c.670 others(31): Show c.670+1566_670+1579delATATATATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176251564	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03225.hp1 NA18522.hp1 others(1): Show HG02809.hp1 HG03225.hp1 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 others(1): Show a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149	4	410	0.0098	-14	c.196 others(33): Show c.196+17335_196+17348delTTTTTTTTTTTTTT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	1/6			chr4	TogoVar
ASB7_chr15_100597589_100656701	100626637	CTCTCTCT others(7): Show CTCTCTCTCTGTCTG	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0316 a0001c0001t0002g0316	1	368	0.0027	-14	c.212 others(31): Show c.212-2790_212-2777delGTCTGTCTCTCTCT	ASB7	ENSG00000183475.13	transcript	ENST00000332783.12	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
ASCC1_chr10_72091032_72221276	72172764	ATATATTA others(7): Show ATATATTATATTTTT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	216	0.0046	-14	c.490 others(33): Show c.490-11104_490-11091delAAAAATATAATATA	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	5/9			chr10	TogoVar
ASCC1_chr10_72091032_72221276	72218159	AAAAAAAA others(7): Show AAAAAAAATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	216	0.0046	-14	c.-20 others(25): Show c.-2000_-1987delATATATATTTTTTT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding		1884		chr10	TogoVar
ASCC1_chr10_72091032_72221276	72218161	AAAAAATA others(7): Show AAAAAATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG03239.hp1 HG00408.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0108 a0001c0001t0002g0101 a0001c0001t0002g0108	2	216	0.0093	-14	c.-20 others(25): Show c.-2002_-1989delATATATATATTTTT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding		1886		chr10	TogoVar
ASCC1_chr10_72091032_72221276	72218163	AAAATATA others(7): Show AAAATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01346.hp2 HG01934.hp1 others(1): Show HG01069.hp2 HG01346.hp2 HG01934.hp1 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0068 others(1): Show a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0072	4	216	0.0185	-14	c.-20 others(25): Show c.-2004_-1991delATATATATATATTT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding		1888		chr10	TogoVar
ASCC2_chr22_29783611_29843274	29789362	CTGACCAG others(7): Show CTGACCAGCCCCGAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(124): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02602.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG03831.hp1 HG03942.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18957.hp1 NA18959.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18984.hp1 NA18985.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18998.hp2 NA19003.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19054.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19075.hp1 NA19077.hp1 NA19084.hp1 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0011 a0002c0002 others(2): Show a0001c0001 a0001c0011 a0002c0002 a0002c0019 a0011c0012	a0001c0001t0003 a0001c0001t0009 a0001c0011t0009 others(5): Show a0001c0001t0003 a0001c0001t0009 a0001c0011t0009 a0002c0002t0002 a0002c0002t0003 a0002c0002t0010 a0002c0019t0002 a0011c0012t0003	a0001c0001t0003g0001 a0001c0001t0003g0006 a0001c0001t0003g0015 others(109): Show a0001c0001t0003g0001 a0001c0001t0003g0006 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0327 a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0330 a0001c0001t0003g0331 a0001c0001t0003g0332 a0001c0001t0003g0333 a0001c0001t0003g0334 a0001c0001t0003g0335 a0001c0001t0003g0336 a0001c0001t0003g0337 a0001c0001t0003g0338 a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0003g0341 a0001c0001t0003g0342 a0001c0001t0003g0343 a0001c0001t0003g0344 a0001c0001t0009g0346 a0001c0001t0009g0347 a0001c0011t0009g0348 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0112 a0002c0002t0003g0324 a0002c0002t0010g0102 a0002c0002t0010g0111 a0002c0019t0002g0072 a0011c0012t0003g0345	127	372	0.3414	-14	c.210 others(31): Show c.2103-192_2103-179delCTCGGGGCTGGTCA	ASCC2	ENSG00000100325.15	transcript	ENST00000307790.8	protein_coding	19/19			chr22	TogoVar
ASCC2_chr22_29783611_29843274	29818403	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01167.hp1 HG01175.hp2 others(11): Show HG01081.hp1 HG01167.hp1 HG01175.hp2 HG01981.hp1 HG02015.hp1 HG02083.hp2 HG02135.hp2 HG02258.hp1 HG02602.hp1 HG03834.hp1 NA18948.hp2 NA18956.hp1 NA18968.hp2 NA19055.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0014	a0001c0001 a0003c0003 a0004c0004 others(1): Show a0001c0001 a0003c0003 a0004c0004 a0014c0018	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0003c0003t0001 a0004c0004t0004 a0014c0018t0001	a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0223 others(11): Show a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0223 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0262 a0001c0001t0001g0274 a0001c0001t0005g0048 a0001c0001t0006g0293 a0003c0003t0001g0159 a0004c0004t0004g0034 a0014c0018t0001g0225	14	372	0.0376	-14	c.542 others(31): Show c.542-2344_542-2331delGTGTGTGTGTGTGT	ASCC2	ENSG00000100325.15	transcript	ENST00000307790.8	protein_coding	5/19			chr22	TogoVar
ASCC3_chr6_100503194_100886329	100586580	GCTGCACC others(7): Show GCTGCACCCACTGAC	G G	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0021 a0021	a0021c0014 a0021c0014	a0021c0014t0014 a0021c0014t0014	a0021c0014t0014g0242 a0021c0014t0014g0242	1	314	0.0032	-14	c.555 others(33): Show c.5550+3040_5550+3053delGTCAGTGGGTGCAG	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	36/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100645415	CTTTTAAG others(7): Show CTTTTAAGACCAACG	C C	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0037 a0002c0003t0002g0037	1	314	0.0032	-14	c.363 others(33): Show c.3633+1186_3633+1199delCGTTGGTCTTAAAA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	22/41			chr6	TogoVar
ASDURF_chr2_189656459_189671401	189665596	GTGTATAT others(7): Show GTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG01106.hp2 others(26): Show HG00408.hp2 HG00597.hp2 HG01106.hp2 HG01192.hp1 HG01975.hp1 HG02015.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG02258.hp2 HG02300.hp1 HG02615.hp2 HG02723.hp2 HG03490.hp2 NA18951.hp1 NA18959.hp2 NA18960.hp1 NA18982.hp1 NA18988.hp2 NA19009.hp2 NA19063.hp1 NA19063.hp2 NA19070.hp1 NA19075.hp1 NA19080.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0052 a0001c0001t0001g0084 a0001c0001t0002g0002 others(3): Show a0001c0001t0001g0052 a0001c0001t0001g0084 a0001c0001t0002g0002 a0001c0001t0002g0039 a0001c0001t0002g0085 a0001c0001t0006g0002	29	340	0.0853	-14	c.220 others(29): Show c.220+147_220+160delGTATATATATATAT	ASDURF	ENSG00000286053.2	transcript	ENST00000607829.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASH1L_chr1_155330268_155567803	155332454	GTATGTGT others(7): Show GTATGTGTATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02723.hp1 HG03195.hp2 HG02055.hp2 HG02723.hp1 HG03195.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0176 a0003c0003t0003g0178 a0003c0003t0003g0179 a0003c0003t0003g0176 a0003c0003t0003g0178 a0003c0003t0003g0179	3	182	0.0165	-14	c.51 others(25): Show c.5192_*5205delTATATATACACATA	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding		2813		chr1	TogoVar
ASH1L_chr1_155330268_155567803	155332458	GTGTATAT others(7): Show GTGTATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	182	0.0055	-14	c.51 others(25): Show c.5188_*5201delTATATATATATACA	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding		2809		chr1	TogoVar
ASH1L_chr1_155330268_155567803	155332460	GTATATAT others(7): Show GTATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 NA19030.hp1 HG01109.hp1 NA19030.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0174 a0005c0005t0002g0175 a0005c0005t0002g0174 a0005c0005t0002g0175	2	182	0.0110	-14	c.51 others(25): Show c.5186_*5199delTATATATATATATA	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding		2807		chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411582	AATAAATA others(7): Show AATAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0014 a0001c0015t0014	a0001c0015t0014g0008 a0001c0015t0014g0008	1	182	0.0055	-14	c.600 others(33): Show c.6008+4148_6008+4161delATATATATATTTAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155490968	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA19009.hp2 HG04199.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0146 a0001c0001t0011g0002 a0001c0001t0001g0146 a0001c0001t0011g0002	2	182	0.0110	-14	c.421 others(31): Show c.421-8533_421-8520delTTTTTTTTTTTTTT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	2/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155532887	ATATATGT others(7): Show ATATATGTATGTATG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02723.hp1 others(2): Show HG02055.hp2 HG02109.hp1 HG02723.hp1 HG03195.hp2 NA19240.hp2	a0003 a0011 a0003 a0011	a0003c0003 a0011c0014 a0003c0003 a0011c0014	a0003c0003t0003 a0011c0014t0002 a0003c0003t0003 a0011c0014t0002	a0003c0003t0003g0176 a0003c0003t0003g0177 a0003c0003t0003g0178 others(2): Show a0003c0003t0003g0176 a0003c0003t0003g0177 a0003c0003t0003g0178 a0003c0003t0003g0179 a0011c0014t0002g0173	5	182	0.0275	-14	c.-99 others(33): Show c.-99-11283_-99-11270delCATACATACATATA	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	1/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155556401	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0168 a0001c0008t0002g0168	1	182	0.0055	-14	c.-10 others(33): Show c.-100+5738_-100+5751delACACACACACACAC	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	1/27			chr1	TogoVar
ASH2L_chr8_38100529_38145080	38121333	TTATATAT others(7): Show TTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03017.hp2 HG04204.hp2 others(2): Show HG02647.hp2 HG03017.hp2 HG04204.hp2 NA18971.hp1 NA19006.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0024 others(2): Show a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0001g0061 a0001c0003t0001g0126	5	330	0.0152	-14	c.116 others(31): Show c.1165+216_1165+229delATATATATATATAT	ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASIC1_chr12_50052596_50088611	50074860	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	324	0.0031	-14	c.559 others(31): Show c.559-2319_559-2306delGTGTGTGTGTGTGT	ASIC1	ENSG00000110881.12	transcript	ENST00000447966.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
ASIC2_chr17_33008087_33298295	33055370	TTCCTCAA others(7): Show TTCCTCAACTGTCGC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0072 a0001c0001t0022g0072	1	240	0.0042	-14	c.988 others(33): Show c.988-26992_988-26979delGCGACAGTTGAGGA	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	3/9			chr17	TogoVar
ASIC2_chr17_33008087_33298295	33233514	TCACACAC others(7): Show TCACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00544.hp2 others(83): Show HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01934.hp1 HG01943.hp1 HG02015.hp1 HG02055.hp1 HG02056.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02280.hp1 HG02602.hp2 HG02647.hp2 HG02698.hp1 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02965.hp2 HG03098.hp1 HG03130.hp2 HG03225.hp2 HG03453.hp2 HG03492.hp2 HG03516.hp2 HG03669.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA18943.hp1 NA18944.hp1 NA18947.hp1 NA18960.hp2 NA18970.hp1 NA18970.hp2 NA18980.hp2 NA18983.hp1 NA18985.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA19000.hp2 NA19004.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19060.hp1 NA19070.hp1 NA19070.hp2 NA19081.hp1 NA19088.hp1 NA19088.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(24): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0019 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0012 a0001c0002t0017 a0001c0002t0025 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0005 a0001c0004t0010 a0001c0005t0006 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0008 a0002c0003t0016 a0002c0003t0030 a0002c0003t0031	a0001c0001t0003g0058 a0001c0001t0003g0060 a0001c0001t0003g0078 others(82): Show a0001c0001t0003g0058 a0001c0001t0003g0060 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0004g0019 a0001c0001t0004g0023 a0001c0001t0004g0034 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0074 a0001c0001t0006g0017 a0001c0001t0006g0064 a0001c0001t0006g0065 a0001c0001t0007g0230 a0001c0001t0007g0233 a0001c0001t0007g0234 a0001c0001t0007g0237 a0001c0001t0007g0239 a0001c0001t0019g0232 a0001c0001t0020g0021 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0114 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0124 a0001c0002t0001g0129 a0001c0002t0002g0099 a0001c0002t0002g0113 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0125 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0140 a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0002t0005g0094 a0001c0002t0005g0096 a0001c0002t0006g0007 a0001c0002t0012g0086 a0001c0002t0017g0109 a0001c0002t0025g0088 a0001c0004t0001g0001 a0001c0004t0001g0153 a0001c0004t0001g0159 a0001c0004t0001g0165 a0001c0004t0001g0167 a0001c0004t0001g0168 a0001c0004t0001g0169 a0001c0004t0001g0174 a0001c0004t0002g0152 a0001c0004t0002g0155 a0001c0004t0002g0164 a0001c0004t0002g0166 a0001c0004t0002g0173 a0001c0004t0004g0008 a0001c0004t0005g0144 a0001c0004t0005g0146 a0001c0004t0010g0145 a0001c0005t0006g0082 a0001c0005t0006g0083 a0002c0003t0001g0197 a0002c0003t0001g0198 a0002c0003t0001g0202 a0002c0003t0001g0209 a0002c0003t0001g0211 a0002c0003t0001g0215 a0002c0003t0001g0216 a0002c0003t0001g0217 a0002c0003t0001g0219 a0002c0003t0002g0179 a0002c0003t0002g0186 a0002c0003t0002g0193 a0002c0003t0005g0182 a0002c0003t0005g0184 a0002c0003t0008g0183 a0002c0003t0016g0177 a0002c0003t0030g0220 a0002c0003t0031g0222	86	240	0.3583	-14	c.708 others(33): Show c.708+57880_708+57893delTGTGTGTGTGTGTG	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ASIC2_chr17_33008087_33298295	33288715	GACACACA others(7): Show GACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0016 a0002c0003t0016	a0002c0003t0016g0177 a0002c0003t0016g0177	1	240	0.0042	-14	c.708 others(31): Show c.708+2679_708+2692delGTGTGTGTGTGTGT	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ASIC5_chr4_155824729_155871277	155825297	TACACACA others(7): Show TACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	334	0.0030	-14	c.45 others(25): Show c.4545_*4558delGTGTGTGTGTGTGT	ASIC5	ENSG00000256394.3	transcript	ENST00000537611.3	protein_coding		4431		chr4	TogoVar
ASIP_chr20_34236423_34274344	34269946	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	306	0.0033	-14	c.78 others(23): Show c.780_*793delAAAAAAAAAAAAAA	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding		603		chr20	TogoVar
ASL_chr7_66070819_66098576	66074720	CTTTCTTT others(7): Show CTTTCTTTCTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00558.hp2 others(68): Show HG00280.hp2 HG00423.hp2 HG00558.hp2 HG00639.hp2 HG01071.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01255.hp1 HG01257.hp1 HG01361.hp2 HG01884.hp1 HG01978.hp2 HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02486.hp2 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03710.hp2 HG04184.hp1 NA18906.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18951.hp1 NA18955.hp1 NA18956.hp2 NA18971.hp1 NA18975.hp2 NA18980.hp1 NA18983.hp2 NA18989.hp1 NA18999.hp2 NA19002.hp2 NA19005.hp2 NA19012.hp2 NA19030.hp2 NA19064.hp1 NA19066.hp1 NA19072.hp1 NA19083.hp1 NA19086.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0004 a0006c0015 a0001c0001 a0002c0004 a0006c0015	a0001c0001t0002 a0002c0004t0002 a0006c0015t0002 a0001c0001t0002 a0002c0004t0002 a0006c0015t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0008 others(42): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0034 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0119 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0150 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0164 a0002c0004t0002g0003 a0002c0004t0002g0017 a0002c0004t0002g0130 a0006c0015t0002g0003	71	316	0.2247	-14	c.-11 others(25): Show c.-1179_-1166delTTTCTTTCTTTTTT	ASL	ENSG00000126522.17	transcript	ENST00000304874.14	protein_coding		1098		chr7	TogoVar
ASL_chr7_66070819_66098576	66074724	CTTTCTTT others(7): Show CTTTCTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01109.hp2 HG01515.hp2 others(1): Show HG00642.hp2 HG01109.hp2 HG01515.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 others(1): Show a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0004g0112	4	316	0.0127	-14	c.-11 others(25): Show c.-1175_-1162delTTTCTTTTTTTTTT	ASL	ENSG00000126522.17	transcript	ENST00000304874.14	protein_coding		1094		chr7	TogoVar
ASMTL_chrX_1398139_1457909	1411806	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp1 HG01070.hp2 others(17): Show HG00323.hp2 HG00733.hp1 HG01070.hp2 HG01071.hp1 HG01169.hp1 HG01257.hp1 HG01884.hp1 HG02004.hp2 HG02165.hp2 HG02683.hp1 HG03195.hp1 NA18964.hp2 NA18971.hp2 NA18992.hp1 NA18993.hp2 NA18997.hp2 NA18998.hp2 NA19057.hp2 NA19081.hp2 NA19083.hp2	a0000 a0002 a0018 a0000 a0002 a0018	a0000c0007 a0000c0030 a0000c0039 others(5): Show a0000c0007 a0000c0030 a0000c0039 a0002c0003 a0002c0009 a0002c0012 a0002c0014 a0018c0032	a0000c0007t0001 a0000c0030t0001 a0000c0039t0001 others(5): Show a0000c0007t0001 a0000c0030t0001 a0000c0039t0001 a0002c0003t0001 a0002c0009t0001 a0002c0012t0001 a0002c0014t0001 a0018c0032t0001	a0000c0007t0001g0033 a0000c0007t0001g0034 a0000c0007t0001g0043 others(17): Show a0000c0007t0001g0033 a0000c0007t0001g0034 a0000c0007t0001g0043 a0000c0007t0001g0044 a0000c0007t0001g0061 a0000c0007t0001g0086 a0000c0007t0001g0092 a0000c0007t0001g0126 a0000c0030t0001g0026 a0000c0039t0001g0148 a0002c0003t0001g0091 a0002c0003t0001g0093 a0002c0003t0001g0143 a0002c0003t0001g0153 a0002c0009t0001g0119 a0002c0009t0001g0128 a0002c0012t0001g0095 a0002c0014t0001g0015 a0002c0014t0001g0177 a0018c0032t0001g0105	20	185	0.1081	-14	c.164 others(31): Show c.1645+912_1645+925delAAAAAAAAAAAAAA	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar

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