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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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
ARHGEF28_chr5_73621196_73946990	73671709	TATATATA others(22): Show TATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03688.hp2 HG03942.hp1 others(1): Show HG01167.hp1 HG03688.hp2 HG03942.hp1 NA19055.hp2	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0009	a0002c0003 a0003c0049 a0005c0069 others(1): Show a0002c0003 a0003c0049 a0005c0069 a0009c0012	a0002c0003t0001 a0003c0049t0001 a0005c0069t0002 others(1): Show a0002c0003t0001 a0003c0049t0001 a0005c0069t0002 a0009c0012t0001	a0002c0003t0001g0041 a0003c0049t0001g0021 a0005c0069t0002g0122 others(1): Show a0002c0003t0001g0041 a0003c0049t0001g0021 a0005c0069t0002g0122 a0009c0012t0001g0014	4	188	0.0213	-29	c.-11 others(48): Show c.-11-13131_-11-13103delATATATATATATATATATATATATAT ATA	ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	1/35			chr5	TogoVar
ARHGEF28_chr5_73621196_73946990	73671710	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA20129.hp2 NA18961.hp1 NA20129.hp2	a0018 a0031 a0018 a0031	a0018c0026 a0031c0064 a0018c0026 a0031c0064	a0018c0026t0002 a0031c0064t0002 a0018c0026t0002 a0031c0064t0002	a0018c0026t0002g0030 a0031c0064t0002g0039 a0018c0026t0002g0030 a0031c0064t0002g0039	2	188	0.0106	-29	c.-11 others(48): Show c.-11-13129_-11-13101delATATATATATATATATATATATATAT ATT	ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF28_chr5_73621196_73946990	73671712	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA19084.hp2 HG01346.hp1 NA19084.hp2	a0001 a0015 a0001 a0015	a0001c0023 a0015c0038 a0001c0023 a0015c0038	a0001c0023t0002 a0015c0038t0001 a0001c0023t0002 a0015c0038t0001	a0001c0023t0002g0020 a0015c0038t0001g0061 a0001c0023t0002g0020 a0015c0038t0001g0061	2	188	0.0106	-29	c.-11 others(48): Show c.-11-13127_-11-13099delATATATATATATATATATATATATAT TTT	ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF28_chr5_73621196_73946990	73671714	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02602.hp2 NA18949.hp1 others(1): Show HG01123.hp2 HG02602.hp2 NA18949.hp1 NA18949.hp2	a0003 a0005 a0021 others(1): Show a0003 a0005 a0021 a0022	a0003c0048 a0005c0008 a0021c0045 others(1): Show a0003c0048 a0005c0008 a0021c0045 a0022c0044	a0003c0048t0006 a0005c0008t0006 a0021c0045t0007 others(1): Show a0003c0048t0006 a0005c0008t0006 a0021c0045t0007 a0022c0044t0001	a0003c0048t0006g0176 a0005c0008t0006g0175 a0021c0045t0007g0172 others(1): Show a0003c0048t0006g0176 a0005c0008t0006g0175 a0021c0045t0007g0172 a0022c0044t0001g0123	4	188	0.0213	-29	c.-11 others(48): Show c.-11-13125_-11-13097delATATATATATATATATATATATATTT TTT	ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF28_chr5_73621196_73946990	73671716	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA19063.hp1 HG03942.hp2 NA19063.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0016c0027 a0001c0001 a0016c0027	a0001c0001t0001 a0016c0027t0007 a0001c0001t0001 a0016c0027t0007	a0001c0001t0001g0063 a0016c0027t0007g0168 a0001c0001t0001g0063 a0016c0027t0007g0168	2	188	0.0106	-29	c.-11 others(48): Show c.-11-13123_-11-13095delATATATATATATATATATATATTTTT TTT	ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARID3A_chr19_921035_980939	950015	AGAGGCCG others(22): Show AGAGGCCGTCCCCAGAGTGAACGGATGGAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00597.hp1 others(42): Show HG00323.hp1 HG00558.hp1 HG00597.hp1 HG00673.hp2 HG01123.hp2 HG01261.hp2 HG01433.hp1 HG01943.hp1 HG01978.hp1 HG02004.hp1 HG02027.hp1 HG02083.hp2 HG02622.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG03225.hp1 HG03710.hp2 HG04199.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18962.hp1 NA18971.hp1 NA18975.hp2 NA18978.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18999.hp1 NA19009.hp2 NA19011.hp2 NA19058.hp1 NA19066.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19087.hp1 NA19090.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(9): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0011 a0001c0014 a0001c0023 a0002c0002 a0002c0004 a0003c0013 a0003c0016 a0003c0027	a0001c0001t0039 a0001c0001t0103 a0001c0001t0126 others(35): Show a0001c0001t0039 a0001c0001t0103 a0001c0001t0126 a0001c0001t0233 a0001c0003t0009 a0001c0003t0012 a0001c0003t0045 a0001c0003t0095 a0001c0003t0228 a0001c0005t0173 a0001c0007t0028 a0001c0011t0007 a0001c0014t0061 a0001c0023t0150 a0001c0023t0151 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0010 a0002c0002t0017 a0002c0002t0070 a0002c0002t0102 a0002c0002t0106 a0002c0004t0001 a0002c0004t0006 a0002c0004t0011 a0002c0004t0018 a0002c0004t0026 a0002c0004t0031 a0002c0004t0032 a0002c0004t0077 a0002c0004t0080 a0002c0004t0081 a0002c0004t0108 a0002c0004t0237 a0003c0013t0153 a0003c0016t0152 a0003c0027t0238	a0001c0001t0039g0232 a0001c0001t0103g0197 a0001c0001t0126g0218 others(42): Show a0001c0001t0039g0232 a0001c0001t0103g0197 a0001c0001t0126g0218 a0001c0001t0233g0214 a0001c0003t0009g0045 a0001c0003t0012g0097 a0001c0003t0012g0128 a0001c0003t0045g0038 a0001c0003t0095g0216 a0001c0003t0228g0065 a0001c0005t0173g0081 a0001c0007t0028g0209 a0001c0011t0007g0100 a0001c0014t0061g0006 a0001c0023t0150g0008 a0001c0023t0151g0007 a0002c0002t0001g0126 a0002c0002t0002g0114 a0002c0002t0006g0217 a0002c0002t0010g0186 a0002c0002t0017g0322 a0002c0002t0017g0323 a0002c0002t0070g0316 a0002c0002t0102g0242 a0002c0002t0106g0150 a0002c0004t0001g0040 a0002c0004t0006g0020 a0002c0004t0006g0060 a0002c0004t0011g0018 a0002c0004t0011g0057 a0002c0004t0011g0061 a0002c0004t0011g0063 a0002c0004t0018g0047 a0002c0004t0026g0071 a0002c0004t0031g0024 a0002c0004t0031g0056 a0002c0004t0032g0054 a0002c0004t0077g0025 a0002c0004t0080g0058 a0002c0004t0081g0021 a0002c0004t0108g0039 a0002c0004t0237g0044 a0003c0013t0153g0022 a0003c0016t0152g0009 a0003c0027t0238g0234	45	364	0.1236	-29	c.694 others(46): Show c.694-9915_694-9887delTGAACGGATGGATGAGGCCGTCCCCAGA G	ARID3A	ENSG00000116017.11	transcript	ENST00000263620.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARID3A_chr19_921035_980939	950177	TGAACGGA others(22): Show TGAACGGATGGATGAGGCCGTCCCCAGAGG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01123.hp1 HG01346.hp2 others(13): Show HG00323.hp2 HG01123.hp1 HG01346.hp2 HG01358.hp2 HG01516.hp1 HG01934.hp1 HG01952.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02129.hp2 HG03704.hp2 NA18951.hp2 NA18969.hp1 NA18982.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0052 a0002c0002 a0002c0004 others(2): Show a0001c0052 a0002c0002 a0002c0004 a0002c0008 a0002c0009	a0001c0052t0192 a0002c0002t0001 a0002c0002t0002 others(10): Show a0001c0052t0192 a0002c0002t0001 a0002c0002t0002 a0002c0002t0060 a0002c0002t0072 a0002c0002t0082 a0002c0002t0096 a0002c0002t0252 a0002c0004t0002 a0002c0004t0006 a0002c0008t0021 a0002c0009t0015 a0002c0009t0054	a0001c0052t0192g0251 a0002c0002t0001g0162 a0002c0002t0002g0117 others(13): Show a0001c0052t0192g0251 a0002c0002t0001g0162 a0002c0002t0002g0117 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0184 a0002c0002t0060g0243 a0002c0002t0072g0182 a0002c0002t0082g0161 a0002c0002t0096g0123 a0002c0002t0252g0134 a0002c0004t0002g0304 a0002c0004t0006g0076 a0002c0008t0021g0298 a0002c0009t0015g0173 a0002c0009t0054g0226	16	364	0.0440	-29	c.694 others(46): Show c.694-9737_694-9709delCGGATGGATGAGGCCGTCCCCAGAGGGA A	ARID3A	ENSG00000116017.11	transcript	ENST00000263620.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARID3A_chr19_921035_980939	950355	CGGATGGA others(22): Show CGGATGGATGAGGCCGTCCCCAGAGGGAAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(12): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00673.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp2 HG02818.hp2 HG03453.hp1 HG04228.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0005 a0001c0007 others(3): Show a0001c0003 a0001c0005 a0001c0007 a0001c0014 a0002c0002 a0002c0009	a0001c0003t0005 a0001c0003t0044 a0001c0003t0143 others(10): Show a0001c0003t0005 a0001c0003t0044 a0001c0003t0143 a0001c0003t0198 a0001c0003t0245 a0001c0003t0246 a0001c0005t0044 a0001c0007t0028 a0001c0014t0195 a0002c0002t0018 a0002c0002t0032 a0002c0002t0107 a0002c0009t0015	a0001c0003t0005g0026 a0001c0003t0005g0066 a0001c0003t0044g0327 others(12): Show a0001c0003t0005g0026 a0001c0003t0005g0066 a0001c0003t0044g0327 a0001c0003t0143g0075 a0001c0003t0198g0027 a0001c0003t0245g0028 a0001c0003t0246g0064 a0001c0005t0044g0311 a0001c0007t0028g0194 a0001c0007t0028g0209 a0001c0014t0195g0265 a0002c0002t0018g0210 a0002c0002t0032g0165 a0002c0002t0107g0175 a0002c0009t0015g0103	15	364	0.0412	-29	c.694 others(46): Show c.694-9712_694-9684delGGAATGGATGGATGAGGCCGTCCCCAGA G	ARID3A	ENSG00000116017.11	transcript	ENST00000263620.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARL6IP6_chr2_152713620_152767396	152715769	GTAAATTT others(22): Show GTAAATTTCTCAGAAGACTTTTTCATTATT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(34): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00642.hp2 HG00738.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp2 HG02055.hp1 HG02148.hp2 HG02300.hp2 HG02602.hp1 HG02683.hp1 HG02735.hp2 HG03017.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04204.hp1 NA18955.hp2 NA18969.hp2 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0032 others(26): Show a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0182 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0217 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0003g0207 a0001c0001t0004g0077 a0001c0001t0004g0198	37	390	0.0949	-29	c.-28 others(40): Show c.-2855_-2827delTAAATTTCTCAGAAGACTTTTTCATTATT	ARL6IP6	ENSG00000177917.12	transcript	ENST00000326446.10	protein_coding		2850		chr2	TogoVar
ARRDC1_chr9_137600686_137620360	137601226	TATATATA others(22): Show TATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 NA19043.hp2 HG00597.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	338	0.0059	-29	c.-44 others(40): Show c.-4491_-4463delATATATATATATATATATATATATATATA	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding		4459		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601230	TATATATA others(22): Show TATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0074	1	338	0.0030	-29	c.-44 others(40): Show c.-4487_-4459delATATATATATATATATATATATATATATA	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding		4455		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601237	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	338	0.0030	-29	c.-44 others(40): Show c.-4480_-4452delTATATATATATATATATATATATTTTTTT	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding		4448		chr9	TogoVar
ASAP1_chr8_130047104_130448674	130262399	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0088 a0001c0001t0028g0088	1	308	0.0033	-29	c.187 others(48): Show c.187-25434_187-25406delCTCTCTCTCTCTTTTTTTTTTTTTTT TTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASB15_chr7_123596821_123644481	123620528	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA19065.hp1 HG00408.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0334 a0001c0002t0001g0339 a0001c0002t0001g0334 a0001c0002t0001g0339	2	380	0.0053	-29	c.451 others(46): Show c.451+2793_451+2821delATATATATATATATATATATATATATTT T	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123620530	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18989.hp2 NA19043.hp2 others(2): Show NA18939.hp1 NA18989.hp2 NA19043.hp2 NA19058.hp1 NA19072.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0001 a0003c0005t0001 a0001c0002t0001 a0003c0005t0001	a0001c0002t0001g0276 a0001c0002t0001g0278 a0001c0002t0001g0279 others(2): Show a0001c0002t0001g0276 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0329 a0003c0005t0001g0180	5	380	0.0132	-29	c.451 others(46): Show c.451+2795_451+2823delATATATATATATATATATATATATTTTT T	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB1_chr2_238421927_238457250	238453145	CATGCCCT others(22): Show CATGCCCTCACACGTAACGTGGCCCAGGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp2 HG01243.hp1 others(52): Show HG00733.hp1 HG00733.hp2 HG01243.hp1 HG01261.hp1 HG01884.hp2 HG01943.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02523.hp1 HG02615.hp2 HG02647.hp1 HG02698.hp2 HG02723.hp2 HG02897.hp2 HG02970.hp1 HG03017.hp2 HG03225.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp1 HG03710.hp1 NA18747.hp1 NA18945.hp1 NA18948.hp1 NA18949.hp2 NA18952.hp1 NA18954.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18967.hp1 NA18967.hp2 NA18975.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18998.hp2 NA19003.hp2 NA19060.hp2 NA19064.hp1 NA19067.hp2 NA19074.hp1 NA19075.hp2 NA19078.hp1 NA19083.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005	a0001c0001t0003 a0001c0001t0004 a0001c0002t0005 others(7): Show a0001c0001t0003 a0001c0001t0004 a0001c0002t0005 a0001c0002t0022 a0001c0002t0050 a0001c0002t0051 a0001c0003t0007 a0001c0004t0006 a0001c0004t0012 a0002c0005t0006	a0001c0001t0003g0139 a0001c0001t0004g0005 a0001c0002t0005g0016 others(35): Show a0001c0001t0003g0139 a0001c0001t0004g0005 a0001c0002t0005g0016 a0001c0002t0005g0026 a0001c0002t0005g0040 a0001c0002t0005g0041 a0001c0002t0005g0042 a0001c0002t0005g0043 a0001c0002t0005g0163 a0001c0002t0005g0168 a0001c0002t0005g0172 a0001c0002t0005g0176 a0001c0002t0005g0177 a0001c0002t0005g0178 a0001c0002t0005g0180 a0001c0002t0005g0181 a0001c0002t0005g0184 a0001c0002t0022g0170 a0001c0002t0022g0171 a0001c0002t0050g0174 a0001c0002t0051g0173 a0001c0003t0007g0008 a0001c0003t0007g0021 a0001c0003t0007g0101 a0001c0003t0007g0102 a0001c0003t0007g0103 a0001c0004t0006g0014 a0001c0004t0006g0033 a0001c0004t0006g0152 a0001c0004t0006g0153 a0001c0004t0012g0014 a0001c0004t0012g0033 a0001c0004t0012g0131 a0002c0005t0006g0014 a0002c0005t0006g0034 a0002c0005t0006g0133 a0002c0005t0006g0154 a0002c0005t0006g0156	55	416	0.1322	-29	c.66 others(40): Show c.6635_*6663delATGCCCTCACACGTAACGTGGCCCAGGAT	ASB1	ENSG00000065802.12	transcript	ENST00000264607.9	protein_coding		896		chr2	TogoVar
ASB2_chr14_93929166_93981570	93959970	GTGCCATG others(22): Show GTGCCATGAGTCTACCCCACGCCCACCCCA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG00741.hp2 others(40): Show HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01099.hp2 HG01257.hp1 HG01361.hp1 HG01884.hp1 HG01884.hp2 HG02145.hp1 HG02258.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03209.hp1 HG03471.hp2 HG03490.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp2 NA19240.hp1 NA21309.hp2	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0010 a0002c0011 a0002c0022 a0007c0023 a0011c0014 a0012c0017	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(10): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0005t0001 a0001c0005t0002 a0002c0010t0004 a0002c0011t0001 a0002c0022t0003 a0007c0023t0001 a0011c0014t0001 a0012c0017t0003	a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0035 others(38): Show a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0272 a0001c0002t0001g0004 a0001c0002t0001g0123 a0001c0002t0002g0015 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0045 a0001c0002t0002g0047 a0001c0002t0002g0122 a0001c0002t0002g0124 a0001c0002t0002g0273 a0001c0002t0002g0345 a0001c0002t0002g0346 a0001c0002t0003g0031 a0001c0003t0001g0046 a0001c0003t0001g0048 a0001c0003t0001g0050 a0001c0003t0001g0125 a0001c0003t0001g0224 a0001c0003t0001g0281 a0001c0003t0001g0287 a0001c0005t0001g0040 a0001c0005t0002g0037 a0002c0010t0004g0347 a0002c0010t0004g0351 a0002c0011t0001g0348 a0002c0011t0001g0350 a0002c0022t0003g0219 a0007c0023t0001g0349 a0011c0014t0001g0049 a0012c0017t0003g0291	43	373	0.1153	-29	c.207 others(46): Show c.207-3129_207-3101delTGGGGTGGGCGTGGGGTAGACTCATGGC A	ASB2	ENSG00000100628.12	transcript	ENST00000555019.6	protein_coding	2/9			chr14	TogoVar
ASB3_chr2_53664980_53791953	53765900	TTCTTTGG others(22): Show TTCTTTGGTGCTCCATTGATAAGAGCACCC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00733.hp1 HG01069.hp2 others(22): Show HG00408.hp2 HG00733.hp1 HG01069.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01192.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp2 HG01515.hp2 HG02451.hp2 HG02602.hp1 HG02683.hp2 HG02735.hp2 HG02965.hp2 HG03239.hp1 HG03490.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG06807.hp1 NA19000.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0003 a0003c0005 others(1): Show a0001c0001 a0001c0003 a0003c0005 a0007c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0003t0005 a0001c0003t0011 a0003c0005t0005 a0007c0007t0005	a0001c0001t0001g0311 a0001c0001t0001g0319 a0001c0001t0001g0320 others(21): Show a0001c0001t0001g0311 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0003g0339 a0001c0001t0004g0324 a0001c0003t0005g0312 a0001c0003t0005g0329 a0001c0003t0005g0331 a0001c0003t0005g0332 a0001c0003t0005g0333 a0001c0003t0005g0335 a0001c0003t0005g0342 a0001c0003t0011g0330 a0003c0005t0005g0008 a0003c0005t0005g0337 a0003c0005t0005g0338 a0007c0007t0005g0341	25	350	0.0714	-29	c.-13 others(44): Show c.-13-344_-13-316delGGGTGCTCTTATCAATGGAGCACCAAAGA	ASB3	ENSG00000115239.24	transcript	ENST00000263634.8	protein_coding	1/9			chr2	TogoVar
ASB5_chr4_176208673_176274222	176218807	GATATATA others(22): Show GATATATAAATATATATGTATGATATATAA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0050 a0001c0002t0003g0050	1	410	0.0024	-29	c.671 others(46): Show c.671-1827_671-1799delTTATATATCATACATATATATTTATATA T	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176218926	GATATATA others(22): Show GATATATAAATATATATGTATGATATATAA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01081.hp1 HG01169.hp2 others(2): Show HG00323.hp2 HG01081.hp1 HG01169.hp2 HG01192.hp2 HG01258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0018 a0001c0002t0003g0046 a0001c0002t0003g0050 others(2): Show a0001c0002t0003g0018 a0001c0002t0003g0046 a0001c0002t0003g0050 a0001c0002t0003g0059 a0001c0002t0003g0099	5	410	0.0122	-29	c.671 others(46): Show c.671-1946_671-1918delTTATATATCATACATATATATTTATATA T	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176219072	AATATATA others(22): Show AATATATATATATTTGTATGATATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01346.hp2 HG01928.hp1 others(2): Show HG01123.hp1 HG01346.hp2 HG01928.hp1 HG02040.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0079 a0001c0001t0001g0164 a0001c0001t0001g0212 others(2): Show a0001c0001t0001g0079 a0001c0001t0001g0164 a0001c0001t0001g0212 a0001c0001t0001g0318 a0001c0001t0019g0213	5	410	0.0122	-29	c.670 others(46): Show c.670+2054_671-2064delATTTATATATCATACAAATATATATATA T	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176219392	ATATTTGT others(22): Show ATATTTGTATGATATATAAATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03017.hp1 HG02056.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0116 a0001c0001t0005g0228 a0001c0001t0001g0116 a0001c0001t0005g0228	2	410	0.0049	-29	c.670 others(46): Show c.670+1734_670+1762delCATATATATATTTATATATCATACAAAT A	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASCC1_chr10_72091032_72221276	72172849	AATATTTT others(22): Show AATATTTTTATATTATATATATTATATATT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00438.hp2 others(17): Show HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00609.hp2 HG01243.hp1 HG01993.hp2 HG02717.hp2 HG02896.hp1 HG03927.hp1 HG03942.hp2 NA18906.hp2 NA18943.hp2 NA18951.hp2 NA18959.hp2 NA18971.hp2 NA19012.hp1 NA19057.hp1 NA19067.hp2 NA19077.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0010 a0001c0001t0001g0027 a0001c0001t0001g0086 others(17): Show a0001c0001t0001g0010 a0001c0001t0001g0027 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0162 a0001c0001t0001g0207 a0001c0001t0002g0088 a0002c0002t0001g0165 a0002c0002t0001g0168 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0185 a0002c0002t0001g0190 a0002c0002t0001g0194 a0002c0002t0001g0196	20	216	0.0926	-29	c.490 others(48): Show c.490-11204_490-11176delAATATATAATATATATAATATAAAAA TAT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	5/9			chr10	TogoVar
ASPDH_chr19_50506603_50518913	50513457	GGGGGACA others(22): Show GGGGGACAGAGACCCAGAGAGAGAGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02647.hp2 HG02055.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	2	372	0.0054	-29	c.53- others(40): Show c.53-70_53-42delACCTCCTCTCTCTCTGGGTCTCTGTCCCC	ASPDH	ENSG00000204653.10	transcript	ENST00000389208.9	protein_coding	1/6			chr19	TogoVar
ASRGL1_chr11_62332448_62398412	62362891	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0356 a0001c0001t0005g0356	1	370	0.0027	-29	c.491 others(46): Show c.491+5764_491+5792delTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASS1_chr9_130439961_130506274	130506204	TGGGGGTA others(22): Show TGGGGGTAAGGTCACCGATCAACAGGATCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	374	0.0027	-29	c.51 others(40): Show c.5184_*5212delGGGGGTAAGGTCACCGATCAACAGGATCC	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding		4931		chr9	TogoVar
ASTN2_chr9_116418112_117420057	116803496	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01099.hp2 HG01169.hp1 others(6): Show HG00099.hp1 HG01099.hp2 HG01169.hp1 HG01258.hp2 HG01496.hp2 HG01934.hp2 HG03017.hp2 HG03239.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0023 a0001c0001 a0001c0002 a0001c0023	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0023t0002	a0001c0001t0001g0034 a0001c0001t0003g0063 a0001c0001t0003g0090 others(6): Show a0001c0001t0001g0034 a0001c0001t0003g0063 a0001c0001t0003g0090 a0001c0002t0001g0067 a0001c0002t0003g0021 a0001c0002t0003g0066 a0001c0002t0004g0029 a0001c0002t0008g0024 a0001c0023t0002g0069	9	102	0.0882	-29	c.239 others(48): Show c.2396+2107_2396+2135delAAATATATATATATATATATATATAT ATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116803498	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0020 a0001c0022t0001g0020	1	102	0.0098	-29	c.239 others(48): Show c.2396+2105_2396+2133delAAAAATATATATATATATATATATAT ATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116803500	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0022 a0001c0002t0003g0022	1	102	0.0098	-29	c.239 others(48): Show c.2396+2103_2396+2131delAAAAAAATATATATATATATATATAT ATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117060325	AGAAAGAA others(22): Show AGAAAGAAAGAAAGAAAGAGAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03041.hp1 NA18959.hp2 others(1): Show HG02922.hp1 HG03041.hp1 NA18959.hp2 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0004 a0001c0002 a0001c0005 a0002c0004	a0001c0002t0003 a0001c0005t0005 a0002c0004t0002 a0001c0002t0003 a0001c0005t0005 a0002c0004t0002	a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0005t0005g0084 others(1): Show a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0005t0005g0084 a0002c0004t0002g0005	4	102	0.0392	-29	c.127 others(50): Show c.1277-20389_1277-20361delCTTTCTTTCTCTCTTTCTTTCTTT CTTTC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117060481	GAAGGAAT others(22): Show GAAGGAATGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0084 a0001c0005t0005g0084	1	102	0.0098	-29	c.127 others(50): Show c.1277-20545_1277-20517delTCTTTCTTTCTTTCTTTCTTTCAT TCCTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ATCAY_chr19_3875685_3933082	3879508	AGAAAGAA others(22): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02486.hp2 HG02145.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0099 a0001c0001t0018g0122 a0001c0001t0018g0099 a0001c0001t0018g0122	2	384	0.0052	-29	c.-15 others(40): Show c.-1541_-1513delGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding		1176		chr19	TogoVar
ATCAY_chr19_3875685_3933082	3927894	TGACACAT others(22): Show TGACACATGGGATGCGTCATAAACCCTCCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0260 a0001c0001t0025g0260	1	384	0.0026	-29	c.33 others(40): Show c.3303_*3331delGACACATGGGATGCGTCATAAACCCTCCC	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	13/13	3303		chr19	TogoVar
ATF2_chr2_175067259_175173203	175107522	GCTCCCTC others(22): Show GCTCCCTCTCCCTCTCCCTCTCCCCACGGT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01496.hp1 HG02055.hp2 others(11): Show HG01109.hp1 HG01496.hp1 HG02055.hp2 HG02451.hp1 HG02630.hp1 HG02683.hp1 HG02738.hp2 HG02809.hp1 HG03471.hp2 HG03491.hp1 HG03516.hp2 HG03927.hp1 HG06807.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0119 a0001c0001t0001g0120 others(11): Show a0001c0001t0001g0007 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133	14	224	0.0625	-29	c.828 others(46): Show c.828+4017_828+4045delACCGTGGGGAGAGGGAGAGGGAGAGGGA G	ATF2	ENSG00000115966.18	transcript	ENST00000264110.7	protein_coding	10/13			chr2	TogoVar
ATG14_chr14_55361391_55416830	55402911	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01358.hp1 HG01243.hp1 HG01358.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0020 a0002c0008t0020	a0002c0008t0020g0002 a0002c0008t0020g0002	2	366	0.0055	-29	c.222 others(46): Show c.222-5506_222-5478delATATATATATATATTTTTTTTTTTTTTT T	ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	1/9			chr14	TogoVar
ATG14_chr14_55361391_55416830	55402927	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	366	0.0027	-29	c.222 others(46): Show c.222-5522_222-5494delATATATATATATATATATATATATATAT A	ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	1/9			chr14	TogoVar
ATG2B_chr14_96274195_96368341	96308252	ACACACAT others(22): Show ACACACATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0319 a0001c0002t0001g0319	1	356	0.0028	-29	c.430 others(48): Show c.4303+1172_4303+1200delATATATATATATATATATATATATGT GTG	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	29/41			chr14	TogoVar
ATG5_chr6_106179476_106330760	106323657	ACCCTGAT others(22): Show ACCCTGATTCAAGTCACCTCGACCTTTAAC	A A	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0344 a0001c0001t0001g0344	1	358	0.0028	-29	c.-59 others(46): Show c.-59+1840_-59+1868delGTTAAAGGTCGAGGTGACTTGAATCAGG G	ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	1/7			chr6	TogoVar
ATN1_chr12_6922959_6947321	6944186	CTAGTCAA others(22): Show CTAGTCAAGGCATAGGCTGCTGGCCTGGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 NA19074.hp1 NA19076.hp1 others(1): Show HG04115.hp2 NA19074.hp1 NA19076.hp1 NA19085.hp2	a0011 a0011	a0011c0016 a0011c0020 a0011c0016 a0011c0020	a0011c0016t0006 a0011c0020t0006 a0011c0016t0006 a0011c0020t0006	a0011c0016t0006g0022 a0011c0020t0006g0022 a0011c0020t0006g0049 a0011c0016t0006g0022 a0011c0020t0006g0022 a0011c0020t0006g0049	4	414	0.0097	-29	c.24 others(40): Show c.2407_*2435delTAGTCAAGGCATAGGCTGCTGGCCTGGGG	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding		1866		chr12	TogoVar
ATP10B_chr5_160558120_160857211	160652908	TACATGTA others(22): Show TACATGTATATATAATATATTATATATACA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA18906.hp2 NA19043.hp2 HG02717.hp2 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0008 a0001c0029 a0001c0008 a0001c0029	a0001c0008t0019 a0001c0029t0047 a0001c0008t0019 a0001c0029t0047	a0001c0008t0019g0030 a0001c0008t0019g0087 a0001c0029t0047g0219 a0001c0008t0019g0030 a0001c0008t0019g0087 a0001c0029t0047g0219	3	236	0.0127	-29	c.676 others(46): Show c.676-3681_676-3653delTGTATATATAATATATTATATATACATG T	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP10B_chr5_160558120_160857211	160755825	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0024 a0001c0006t0024	a0001c0006t0024g0109 a0001c0006t0024g0109	1	236	0.0042	-29	c.-33 others(50): Show c.-331+29705_-331+29733delATATATATATATATATTTTTTTTT TTTTT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	2/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112787115	CTGACGTG others(22): Show CTGACGTGTAGACCCCTGTGGAGACCTACT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02523.hp1 HG02523.hp2 others(2): Show HG00438.hp2 HG02523.hp1 HG02523.hp2 NA18950.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0002 a0001c0001t0010 a0001c0001t0019 others(2): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0019 a0001c0002t0002 a0001c0011t0001	a0001c0001t0002g0206 a0001c0001t0010g0122 a0001c0001t0019g0018 others(2): Show a0001c0001t0002g0206 a0001c0001t0010g0122 a0001c0001t0019g0018 a0001c0002t0002g0190 a0001c0011t0001g0139	5	254	0.0197	-29	c.162 others(46): Show c.162+1860_162+1888delGACGTGTAGACCCCTGTGGAGACCTACT T	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112787594	CTGATGCG others(22): Show CTGATGCGTAGACCCCTGTGGAGACCTACT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02451.hp2 others(14): Show HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02647.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02970.hp2 HG03195.hp1 HG03453.hp2 HG03486.hp1 HG06807.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0009 a0001c0029 a0001c0045 a0004c0015 a0009c0038	a0001c0001t0002 a0001c0002t0004 a0001c0002t0013 others(9): Show a0001c0001t0002 a0001c0002t0004 a0001c0002t0013 a0001c0002t0034 a0001c0004t0003 a0001c0004t0042 a0001c0006t0004 a0001c0009t0048 a0001c0029t0051 a0001c0045t0014 a0004c0015t0002 a0009c0038t0069	a0001c0001t0002g0050 a0001c0002t0004g0041 a0001c0002t0013g0117 others(14): Show a0001c0001t0002g0050 a0001c0002t0004g0041 a0001c0002t0013g0117 a0001c0002t0034g0042 a0001c0004t0003g0034 a0001c0004t0003g0049 a0001c0004t0003g0079 a0001c0004t0003g0250 a0001c0004t0003g0251 a0001c0004t0042g0057 a0001c0006t0004g0036 a0001c0006t0004g0114 a0001c0009t0048g0045 a0001c0029t0051g0046 a0001c0045t0014g0254 a0004c0015t0002g0052 a0009c0038t0069g0044	17	254	0.0669	-29	c.162 others(46): Show c.162+2339_162+2367delGATGCGTAGACCCCTGTGGAGACCTACT T	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112787642	CTGATGTG others(22): Show CTGATGTGTAGACCCCTGTGGATACCTACT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0002 a0014c0023t0002	a0014c0023t0002g0064 a0014c0023t0002g0064	1	254	0.0039	-29	c.162 others(46): Show c.162+2387_162+2415delGATGTGTAGACCCCTGTGGATACCTACT T	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP1B1_chr1_169101690_169137719	169114131	GAGGACCC others(22): Show GAGGACCCTCCTTGGCATTTTTCAATGCCA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp2 HG00597.hp2 others(57): Show HG00323.hp1 HG00558.hp2 HG00597.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01433.hp2 HG01515.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03139.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03516.hp2 HG03654.hp2 HG03704.hp2 HG03927.hp1 HG03927.hp2 NA18939.hp1 NA18940.hp2 NA18945.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18966.hp1 NA18972.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19056.hp1 NA19065.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 a0001c0001t0018 a0001c0001t0023 a0001c0001t0024	a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 others(52): Show a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0094 a0001c0001t0001g0116 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0285 a0001c0001t0001g0303 a0001c0001t0001g0328 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0074 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0125 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0173 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0003g0007 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0073 a0001c0001t0003g0096 a0001c0001t0003g0117 a0001c0001t0003g0161 a0001c0001t0004g0053 a0001c0001t0004g0069 a0001c0001t0004g0087 a0001c0001t0004g0088 a0001c0001t0004g0327 a0001c0001t0005g0061 a0001c0001t0005g0079 a0001c0001t0005g0086 a0001c0001t0008g0081 a0001c0001t0008g0311 a0001c0001t0013g0271 a0001c0001t0018g0326 a0001c0001t0023g0156 a0001c0001t0024g0343	60	412	0.1456	-29	c.226 others(46): Show c.226+2657_226+2685delATGCCAAGGACCCTCCTTGGCATTTTTC A	ATP1B1	ENSG00000143153.14	transcript	ENST00000367815.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP2C2_chr16_84363538_84469187	84461154	AGGTGATT others(22): Show AGGTGATTGTTTGCTTTGGATCTAGGCCTG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0212 a0002c0007t0001g0212	1	432	0.0023	-29	c.248 others(46): Show c.2481+357_2481+385delGATTGTTTGCTTTGGATCTAGGCCTGGG T	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	24/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP5MC2_chr12_53660170_53681083	53667969	ATATATAT others(22): Show ATATATATATATATATATATATATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03195.hp1 NA18522.hp2 HG01891.hp2 HG03195.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0102 a0001c0002t0001g0044 a0001c0002t0001g0102	3	418	0.0072	-29	c.311 others(46): Show c.311+1150_311+1178delATTTATATATATATATATATATATATAT A	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	4/4			chr12	TogoVar
ATP5MF_chr7_99453195_99471167	99469638	GAACTCTT others(22): Show GAACTCTTTAGGGTCCATCTAAAGCACAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	346	0.0029	-29	c.-35 others(40): Show c.-3526_-3498delTTTGTGCTTTAGATGGACCCTAAAGAGTT	ATP5MF	ENSG00000241468.8	transcript	ENST00000292475.8	protein_coding		3472		chr7	TogoVar
ATP6V1C2_chr2_10716630_10790110	10745151	CTCCTGCC others(22): Show CTCCTGCCTCAGCCTCCCGAGTATCTGGAT	C C	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	354	0.0028	-29	c.198 others(46): Show c.198-8829_198-8801delTCCTGCCTCAGCCTCCCGAGTATCTGGA T	ATP6V1C2	ENSG00000143882.12	transcript	ENST00000272238.9	protein_coding	3/13			chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46546490	ATATATAT others(22): Show ATATATATATATATATATATATGTATATAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0180 a0001c0001t0005g0180	1	410	0.0024	-29	c.-46 others(40): Show c.-4676_-4648delGTATATACATATATATATATATATATATA	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding		3914		chr2	TogoVar

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