JoGo: Joint Open Genome and Omics Platform

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
ALLC_chr2_3653200_3707671	3690353	T T	TCCCCCCT others(95): Show TCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCC TCC	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0064	1	274	0.0037	102	c.512 others(119): Show c.512-5360_512-5359insCCTCCCCTCCCCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764800	T T	TTTTATAT others(95): Show TTTTATATATATATATACATATATATATATACATATATATACATATATAT ATATATATATATATATATGTATATATATATATGTATATATATATATACGT ATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0256 a0001c0007t0007g0256	1	370	0.0027	102	c.44 others(113): Show c.4490_*4491insTATACGTATATATATATATACATATATATATATA CATATATATATATATATATATATATATGTATATATATGTATATATATATA TGTATATATATATATAAA	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2839		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764842	A A	ATATATAC others(95): Show ATATATACACATATATATATACACGTATATATATACGTATATATATATAC GTGTATATATATGTGTATATATATATACGTGTATATATACGTATATATAT ACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0241 a0001c0002t0002g0241	1	370	0.0027	102	c.44 others(113): Show c.4448_*4449insCGTATATATATACGTATATATACACGTATATATA TATACACATATATATACACGTATATATATATACGTATATATATACGTGTA TATATATATGTGTATATA	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2797		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764843	T T	TATATATA others(95): Show TATATATACACATATATATATACACGTATATATATACGTATATATATATA CGTGTATATATATGTGTATATATATATACGTATATATATACGTATATATA TAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01943.hp1 NA18940.hp2 others(1): Show HG00741.hp2 HG01943.hp1 NA18940.hp2 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0201 a0001c0002t0002g0232 others(1): Show a0001c0002t0002g0001 a0001c0002t0002g0201 a0001c0002t0002g0232 a0001c0002t0002g0234	4	370	0.0108	102	c.44 others(113): Show c.4447_*4448insGTATATATATACGTATATATATACGTATATATAT ATACACATATATATACACGTATATATATATACGTATATATATACGTGTAT ATATATATGTGTATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2796		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764845	T T	TATATACA others(95): Show TATATACACATATATATATACACGTATATATATACGTATATATATATACG TGTATATATATGTGTATATATATATATACGTATATATATACGTATATATA TAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0240 a0001c0002t0002g0240	1	370	0.0027	102	c.44 others(113): Show c.4445_*4446insGTATATATATACGTATATATATACGTATATATAT ATATACACATATATATACACGTATATATATATACGTATATATATACGTGT ATATATATATGTGTATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2794		chr2	TogoVar
ANKLE2_chr12_132720503_132766832	132759517	A A	ATATTATA others(95): Show ATATTATATGTGCTATGTGATATACACGTATCATATGCCATGATATACGT ATATTATACATCATATATAAAAACATATTTTTATATAAAATAAATCAGTA TTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0278 a0003c0003t0001g0278	1	350	0.0029	102	c.181 others(119): Show c.181+2100_181+2101insAAATACTGATTTATTTTATATAAAAATA TGTTTTTATATATGATGTATAATATACGTATATCATGGCATATGATACGT GTATATCACATAGCACATATAATA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANKRD62_chr18_12088843_12134764	12094362	G G	GTGGGGTG others(95): Show GTGGGGTGGGGGACTGTGGTGGGGGTAGAGTTGGGTGGGGGACTGTATTA GGAGGTGGAGTTGGGTGGGGTTGGATGGGGTGGAGGACTGGTGGGGGGTG GGA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0204 a0003c0004t0003g0204	1	392	0.0026	102	c.218 others(117): Show c.218+150_218+151insGTAGAGTTGGGTGGGGGACTGTATTAGGAG GTGGAGTTGGGTGGGGTTGGATGGGGTGGAGGACTGGTGGGGGGTGGGAT GGGGTGGGGGACTGTGGTGGGG	ANKRD62	ENSG00000181626.12	transcript	ENST00000587848.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr18	TogoVar
ANKRD62_chr18_12088843_12134764	12094621	T T	TTGGGGTG others(95): Show TTGGGGTGGAGGACTGGTGGGGGGTGGGATGGGGTGGGGGACTGTGGTGG GGGTAGAGTTGGGTGGGGGACTGTATTAGGAGGTGGAGTTGGGTGGGGTT GGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(129): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01258.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18952.hp1 NA18961.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18981.hp1 NA18984.hp2 NA18985.hp1 NA18998.hp1 NA19002.hp2 NA19005.hp2 NA19010.hp2 NA19011.hp2 NA19043.hp2 NA19063.hp1 NA19065.hp2 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19083.hp2 NA19085.hp2 NA19087.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(3): Show a0002 a0003 a0004 a0005 a0012 a0013	a0002c0003 a0002c0012 a0002c0015 others(6): Show a0002c0003 a0002c0012 a0002c0015 a0003c0004 a0004c0005 a0005c0006 a0005c0019 a0012c0017 a0013c0016	a0002c0003t0002 a0002c0003t0016 a0002c0003t0019 others(20): Show a0002c0003t0002 a0002c0003t0016 a0002c0003t0019 a0002c0003t0020 a0002c0003t0022 a0002c0003t0032 a0002c0003t0033 a0002c0003t0034 a0002c0003t0035 a0002c0003t0039 a0002c0003t0040 a0002c0012t0016 a0002c0015t0002 a0003c0004t0003 a0003c0004t0006 a0003c0004t0013 a0004c0005t0003 a0004c0005t0006 a0005c0006t0006 a0005c0006t0021 a0005c0019t0006 a0012c0017t0003 a0013c0016t0002	a0002c0003t0002g0005 a0002c0003t0002g0010 a0002c0003t0002g0011 others(76): Show a0002c0003t0002g0005 a0002c0003t0002g0010 a0002c0003t0002g0011 a0002c0003t0002g0057 a0002c0003t0002g0058 a0002c0003t0002g0059 a0002c0003t0002g0100 a0002c0003t0002g0169 a0002c0003t0002g0170 a0002c0003t0002g0176 a0002c0003t0002g0177 a0002c0003t0002g0178 a0002c0003t0002g0179 a0002c0003t0002g0180 a0002c0003t0002g0181 a0002c0003t0002g0182 a0002c0003t0002g0183 a0002c0003t0002g0184 a0002c0003t0002g0185 a0002c0003t0002g0186 a0002c0003t0002g0187 a0002c0003t0002g0188 a0002c0003t0002g0189 a0002c0003t0002g0190 a0002c0003t0002g0192 a0002c0003t0002g0193 a0002c0003t0002g0194 a0002c0003t0002g0195 a0002c0003t0016g0037 a0002c0003t0019g0168 a0002c0003t0019g0172 a0002c0003t0019g0173 a0002c0003t0020g0010 a0002c0003t0020g0174 a0002c0003t0022g0013 a0002c0003t0022g0175 a0002c0003t0032g0096 a0002c0003t0033g0171 a0002c0003t0034g0010 a0002c0003t0035g0037 a0002c0003t0039g0013 a0002c0003t0040g0013 a0002c0012t0016g0041 a0002c0015t0002g0191 a0003c0004t0003g0001 a0003c0004t0003g0009 a0003c0004t0003g0018 a0003c0004t0003g0028 a0003c0004t0003g0036 a0003c0004t0003g0039 a0003c0004t0003g0042 a0003c0004t0003g0080 a0003c0004t0003g0081 a0003c0004t0003g0082 a0003c0004t0003g0084 a0003c0004t0003g0087 a0003c0004t0003g0090 a0003c0004t0003g0091 a0003c0004t0003g0093 a0003c0004t0003g0094 a0003c0004t0003g0095 a0003c0004t0006g0040 a0003c0004t0013g0078 a0003c0004t0013g0079 a0004c0005t0003g0001 a0004c0005t0003g0066 a0004c0005t0003g0088 a0004c0005t0003g0092 a0004c0005t0006g0001 a0004c0005t0006g0089 a0005c0006t0006g0038 a0005c0006t0006g0085 a0005c0006t0006g0086 a0005c0006t0021g0083 a0005c0006t0021g0097 a0005c0006t0021g0098 a0005c0019t0006g0038 a0012c0017t0003g0018 a0013c0016t0002g0058	132	392	0.3367	102	c.218 others(117): Show c.218+437_218+438insGTAGAGTTGGGTGGGGGACTGTATTAGGAG GTGGAGTTGGGTGGGGTTGGATGGGGTGGAGGACTGGTGGGGGGTGGGAT GGGGTGGGGGACTGTGGTGGGG	ANKRD62	ENSG00000181626.12	transcript	ENST00000587848.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr18	TogoVar
ANKRD62_chr18_12088843_12134764	12094621	T T	TTGGGGTG others(95): Show TTGGGGTGGAGGACTGGTGGGGGGTGGGATGGGGTGGGGGACTGTGGTGG GGGTAGAGTTGGGTGGGGGACTGTATTAGGAGGTGGAGTTGGGTTGGGTT GGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00642.hp1 HG01099.hp1 others(19): Show HG00558.hp2 HG00642.hp1 HG01099.hp1 HG01433.hp2 HG01928.hp1 HG01952.hp1 HG01981.hp2 HG02004.hp2 HG02300.hp2 NA18612.hp2 NA18939.hp2 NA18946.hp2 NA18955.hp1 NA18966.hp1 NA18982.hp2 NA18990.hp2 NA19012.hp2 NA19054.hp1 NA19058.hp2 NA19080.hp1 NA19084.hp2 NA19085.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0007 a0002c0003t0002g0014 a0002c0003t0002g0060 others(8): Show a0002c0003t0002g0007 a0002c0003t0002g0014 a0002c0003t0002g0060 a0002c0003t0002g0196 a0002c0003t0002g0197 a0002c0003t0002g0198 a0002c0003t0002g0199 a0002c0003t0002g0200 a0002c0003t0002g0201 a0002c0003t0002g0202 a0002c0003t0002g0203	22	392	0.0561	102	c.218 others(117): Show c.218+437_218+438insGTAGAGTTGGGTGGGGGACTGTATTAGGAG GTGGAGTTGGGTTGGGTTGGATGGGGTGGAGGACTGGTGGGGGGTGGGAT GGGGTGGGGGACTGTGGTGGGG	ANKRD62	ENSG00000181626.12	transcript	ENST00000587848.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr18	TogoVar
ANO7_chr2_241183677_241230976	241218098	G G	GGGGCGCG others(95): Show GGGGCGCGCAGGGGCGGAGCGGGGGCGCGCAGGGGCGGAGCGGGGGGCAG CGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGCGCGCAGGGGCGG AGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02717.hp2 HG02886.hp2 others(6): Show HG02258.hp1 HG02717.hp2 HG02886.hp2 HG02922.hp1 HG03041.hp1 HG03195.hp2 HG03486.hp1 HG06807.hp1 NA19043.hp1	a0006 a0006	a0006c0006 a0006c0018 a0006c0006 a0006c0018	a0006c0006t0001 a0006c0006t0009 a0006c0018t0001 others(1): Show a0006c0006t0001 a0006c0006t0009 a0006c0018t0001 a0006c0018t0017	a0006c0006t0001g0007 a0006c0006t0001g0106 a0006c0006t0009g0007 others(6): Show a0006c0006t0001g0007 a0006c0006t0001g0106 a0006c0006t0009g0007 a0006c0006t0009g0101 a0006c0006t0009g0105 a0006c0006t0009g0113 a0006c0018t0001g0155 a0006c0018t0001g0229 a0006c0018t0017g0158	9	396	0.0227	102	c.217 others(119): Show c.2179-138_2179-137insCGCGCAGGGGCGGAGCGGGGGCGCGCAG GGGCGGAGCGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGC GGGGGCGCGCAGGGGCGGAGCGGG	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANO7_chr2_241183677_241230976	241218098	G G	GGGGCGCG others(95): Show GGGGCGCGCAGGGGTGGAGCGGGGGCGCGCAGGGGCGGAGCGGGGGGCAG CGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGCGCGCAGGGGCGG AGC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0009 a0006c0006t0009	a0006c0006t0009g0107 a0006c0006t0009g0108 a0006c0006t0009g0107 a0006c0006t0009g0108	2	396	0.0051	102	c.217 others(119): Show c.2179-138_2179-137insCGCGCAGGGGTGGAGCGGGGGCGCGCAG GGGCGGAGCGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGC GGGGGCGCGCAGGGGCGGAGCGGG	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANXA10_chr4_168087537_168192736	168156206	T T	TTATATTA others(95): Show TTATATTATATATTATATATTATATATATTATATTATATATTATATATTA TATATATTATATTATATATTATATATTATATATTATATATATTATATATA ATA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01928.hp2 HG01943.hp1 others(8): Show HG01496.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG02056.hp2 HG02273.hp2 NA18942.hp2 NA18971.hp1 NA18980.hp2 NA19001.hp2 NA19068.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0081 a0002c0002t0001g0146 a0002c0002t0001g0153 others(8): Show a0002c0002t0001g0081 a0002c0002t0001g0146 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0186 a0002c0002t0001g0197	11	284	0.0387	102	c.196 others(119): Show c.196-6312_196-6311insATTATATATTATATATATTATATTATAT ATTATATATTATATATATTATATTATATATTATATATTATATATTATATA TATTATATATAATATATATTATAT	ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
APOBEC3B_chr22_38977347_38997779	38988683	C C	CTCTCTTT others(95): Show CTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	354	0.0028	102	c.570 others(117): Show c.570-771_570-770insCTTTCTCTCTTTCTCTCTTTCTCTCTTTCT CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCT	APOBEC3B	ENSG00000179750.16	transcript	ENST00000333467.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr22	TogoVar
ARCN1_chr11_118567409_118608033	118581933	G G	GACACACA others(95): Show GACACACACACACACACACACACCCCTCTTCTAAGACTTTATGCCAAAGT CTTGCTTAAAATGAAGACTTAGGTAAGACTTACTGATCCAGAGACAGACA GAC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0019 a0002c0005t0019	a0002c0005t0019g0326 a0002c0005t0019g0326	1	368	0.0027	102	c.267 others(117): Show c.267+427_267+428insCACACACACACACACACACCCCTCTTCTAA GACTTTATGCCAAAGTCTTGCTTAAAATGAAGACTTAGGTAAGACTTACT GATCCAGAGACAGACAGACACA	ARCN1	ENSG00000095139.15	transcript	ENST00000264028.5	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARFRP1_chr20_63693647_63712976	63693651	T T	TCCACCTC others(95): Show TCCACCTCCACCACCACCTCCACCACCACCACCACCACCACCTCCACCAC CACCTCCACCACCACCACCACCACCACCTCCACCACCACCTCCACCACCA CCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	296	0.0034	102	c.67 others(113): Show c.6791_*6792insTGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGT GGTGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGG AGGTGGTGGTGGAGGTGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4995		chr20	TogoVar
ARFRP1_chr20_63693647_63712976	63693699	A A	ACCACCTC others(95): Show ACCACCTCCACCACCACCTCCACCACCACCACCACCTCCACCACCACCAC CTCCACCACCACCTCCACCACCACCACCTCCACCACCACCTCCACCACCA CCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 NA18948.hp2 HG00597.hp2 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0085 a0001c0002t0002g0001 a0001c0002t0002g0085	2	296	0.0068	102	c.67 others(113): Show c.6743_*6744insAGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGT GGTGGAGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGG AGGTGGTGGTGGAGGTGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4947		chr20	TogoVar
ARHGAP19_chr10_97217179_97297637	97251566	G G	GAAGATGA others(95): Show GAAGATGAAGGGGAAGGGAAAAGGAAGGAGAAGAGGAGGGGAAGGGGAGG GGAAAGGAAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGGAAG GGA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0037 a0001c0002t0002g0037	1	242	0.0041	102	c.927 others(119): Show c.927+4751_927+4752insTCCCTTCCCCCTCCCCTTCCCCTCCCCT TCCCCTCCCCTTCCCCTTCCTTTCCCCTCCCCTTCCCCTCCTCTTCTCCT TCCTTTTCCCTTCCCCTTCATCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP26_chr5_142765377_143234007	143012548	C C	CATATATA others(95): Show CATATATATATATATATATATATATATATACATATATATATATATATATA TATATATACATATATATATATATATATATATACATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0173 a0001c0002t0003g0173	1	198	0.0051	102	c.110 others(121): Show c.1108-1529_1108-1528insTATATATATATATATATATATATATA CATATATATATATATATATATATATATACATATATATATATATATATATA TACATATATATATATATATATATATA	ARHGAP26	ENSG00000145819.18	transcript	ENST00000645722.2	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGAP32_chr11_128960060_129197325	129193632	T T	TTATATAT others(95): Show TTATATATAATATATAATATATTATATAATATATATTATATATAATATAT AATATATTATATAATATATATTATATATAATATATAATATATGTTATATA ATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0101 a0001c0001t0004g0101	1	398	0.0025	102	c.-14 others(113): Show c.-1435_-1434insTATTATATAACATATATTATATATTATATATAAT ATATATTATATAATATATTATATATTATATATAATATATATTATATAATA TATTATATATTATATATA	ARHGAP32	ENSG00000134909.19	transcript	ENST00000682385.1	protein_coding		1308		chr11	TogoVar
ARHGAP39_chr8_144524179_144690846	144625669	G G	GCCCCTGT others(95): Show GCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGC AGCCCCTGTCCCGGCGGCCCGGTTCACGGAGCACCCACTGCACACTGCGG CAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0017 a0001c0007t0001g0017	1	246	0.0041	102	c.-81 others(121): Show c.-81-19975_-81-19974insATGCCGCAGTGTGCAGTGGGTGCTCC GTGAACCGGGCCGCCGGGACAGGGGCTGCCGCAGTGTGCAGTGGGTGCTC CGTGAACGGGGCCGCCGGGACAGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGAP45_chr19_1062167_1091628	1085483	T T	TCTGTCTG others(95): Show TCTGTCTGTCCCTCCCCTTGTCTCTCCTCCATCTCTCCTGTCTCTCCCCA TCTCTCCTGTCTCTCCATCTCTCTCCCCCCTCTCCTGTCTCTCCCCATCT CTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0223 a0001c0002t0001g0223	1	418	0.0024	102	c.306 others(118): Show c.3065-134_3065-33dupCTCCCCATCTCTCCTGTCTCTCCATCTCT CTCCCCCCTCTCCTGTCTCTCCCCATCTCTCCTGTCTGTCCCTCCCCTTG TCTCTCCTCCATCTCTCCTGTCT	ARHGAP45	ENSG00000180448.11	transcript	ENST00000313093.7	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARID2_chr12_45724706_45913037	45899671	T T	TTATATAT others(95): Show TTATATATATATATGGTTATATATATATATATGGTTATATATATATATGG TTATATATATATGGTTATATATATATATGGTTATATATATATGGTTTTAT ATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0265 a0001c0001t0013g0265	1	318	0.0031	102	c.536 others(121): Show c.5364-5256_5364-5255insATATATGGTTATATATATATATATGG TTATATATATATATGGTTATATATATATGGTTATATATATATATGGTTAT ATATATATGGTTTTATATATATATAT	ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
ARPP21_chr3_35634525_35799486	35675187	A A	ATGACACC others(95): Show ATGACACCACCTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	266	0.0038	102	c.-21 others(121): Show c.-212-4586_-212-4585insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTGACACCACCTTTC	ARPP21	ENSG00000172995.17	transcript	ENST00000684406.1	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ASAP1_chr8_130047104_130448674	130049371	G G	GGGGGGCA others(95): Show GGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACATGGGGGCAGA GGGGAACACATGGAGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACA CAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0277	1	308	0.0033	102	c.53 others(113): Show c.5359_*5360insATGTGTTCCCCTCTGCCCTCCATGTGTTCCCCTC TGCCCTCCATGTGTTCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCCCAT GTGTTCTCCTCTGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2732		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049487	G G	GAACACAT others(95): Show GAACACATGGAGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACACATG GAGGGCAGAGGGGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGA GGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0198 a0001c0001t0017g0198	1	308	0.0033	102	c.52 others(113): Show c.5243_*5244insTCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCA TGTGTTCCCCTCTGCCCTCCATGTGTTCCCCTCTGCCCCCATGTGTTCCC CTCTGCCCTCCATGTGTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2616		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049629	A A	AGGAGAAC others(95): Show AGGAGAACACATGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACAC ATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACACATGGGGGCA GAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	308	0.0033	102	c.51 others(113): Show c.5101_*5102insCTCTGCCCCCATGTGTTCTCCTCTGCCCCCATGT GTTCTCCTCTGCCCCCCATGTGTTCCCCTCTGCCCCCATGTGTTCCCCTC TGCCCCCATGTGTTCTCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2474		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049641	G G	GGGGGCAG others(95): Show GGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGGCAG AGGAGAACACATGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACA CAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 NA18951.hp2 HG00673.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0192 a0001c0001t0002g0174 a0001c0001t0002g0192	2	308	0.0065	102	c.50 others(113): Show c.5089_*5090insATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCTC TGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCTCTGCCCTCCA TGTGTTCCCCTCTGCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2462		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049744	G G	GGGGGGCA others(95): Show GGGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACACATGGGGGCAGA GGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACA CAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0060	1	308	0.0033	102	c.49 others(113): Show c.4986_*4987insATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTC TGCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCAT GTGTTCTCCTCTGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2359		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049877	G G	GGAGAACA others(95): Show GGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACAC ATGGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAATACATGGGGGGC AGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0095 a0002c0002t0029g0095	1	308	0.0033	102	c.48 others(113): Show c.4853_*4854insTCTGCCCCCCATGTATTCCCCTCTGCCCCCATGT GTTCCCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTATTCCCCT CTGCCCCCATGTGTTCTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2226		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050281	G G	GGGGGGCA others(95): Show GGGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACACATGGGGGGCAG AGGGGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACA CAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	308	0.0033	102	c.44 others(113): Show c.4449_*4450insATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTC TGCCCCCATGTGTTCCCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCAT GTGTTCTCCTCTGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1822		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050281	G G	GGGGGGCA others(95): Show GGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACGGGGGGAAGA GGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACA CAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0081 a0002c0002t0001g0081	1	308	0.0033	102	c.44 others(113): Show c.4449_*4450insATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTC TGCCCCCCATGTGTTCCCCTCTTCCCCCCGTGTTCCCCTCTGCCCCCCAT GTGTTCTCCTCTGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1822		chr8	TogoVar
ASAP2_chr2_9201812_9410678	9305130	T T	TTGTAATA others(95): Show TTGTAATAGTGGGGTATAGATATTGGTGGAGGGGCTGGAGTAGTGAGGTA TAGATATTGGTTGACAGGCTGCAGTAGTGGGGTATACATATTGGTGGAGG GGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01175.hp2 NA18522.hp1 HG00639.hp1 HG01175.hp2 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0007 a0001c0004 a0001c0007	a0001c0004t0005 a0001c0007t0001 a0001c0004t0005 a0001c0007t0001	a0001c0004t0005g0041 a0001c0004t0005g0138 a0001c0007t0001g0030 a0001c0004t0005g0041 a0001c0004t0005g0138 a0001c0007t0001g0030	3	210	0.0143	102	c.345 others(119): Show c.345+7744_345+7745insTTGACAGGCTGCAGTAGTGGGGTATACA TATTGGTGGAGGGGCTGTAATAGTGGGGTATAGATATTGGTGGAGGGGCT GGAGTAGTGAGGTATAGATATTGG	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASCC3_chr6_100503194_100886329	100608118	C C	CTATATAC others(95): Show CTATATACACATATATATGTATATATATCTATATATACATATATATGTAT ATATATCTATATACACATATATATCTATATATACATATATATGTATATAT AGA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0011 a0011	a0011c0028 a0011c0028	a0011c0028t0002 a0011c0028t0002	a0011c0028t0002g0074 a0011c0028t0002g0074	1	314	0.0032	102	c.478 others(121): Show c.4786-1031_4786-1030insTCTATATATACATATATATGTATATA TAGATATATATGTGTATATAGATATATATACATATATATGTATATATAGA TATATATACATATATATGTGTATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASPRV1_chr2_69955089_69966631	69956451	G G	GGAAGAAG others(95): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	464	0.0022	102	c.42 others(113): Show c.4205_*4206insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTC	ASPRV1	ENSG00000244617.3	transcript	ENST00000320256.6	protein_coding		3637		chr2	TogoVar
ASTN2_chr9_116418112_117420057	117016645	T T	TAACCTAT others(95): Show TAACCTATATATATGTTACATATATATAGGTTATATATATATGTTACATA TATATAGGTTATATATATATGTTACATATATATAGGTTATATATATATGT TAC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG03239.hp1 HG02004.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0010 a0001c0002t0008 a0001c0002t0010	a0001c0002t0008g0024 a0001c0002t0010g0064 a0001c0002t0008g0024 a0001c0002t0010g0064	2	102	0.0196	102	c.142 others(121): Show c.1424-8387_1424-8386insGTAACATATATATATAACCTATATAT ATGTAACATATATATATAACCTATATATATGTAACATATATATATAACCT ATATATATGTAACATATATATAGGTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	6/22			chr9	TogoVar
ATF1_chr12_50759101_50826162	50823553	T T	TTATATAT others(95): Show TTATATATAATATAGATTATATATAATATAGATTATATATAATATAGATT ATATATAATATAGATTATATATATAATCTATATTATATATAATCTATATT ATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG03041.hp1 HG02630.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0322 a0001c0001t0001g0323	2	382	0.0052	102	c.37 others(113): Show c.3774_*3775insTATATATAATATAGATTATATATAATATAGATTA TATATAATATAGATTATATATAATATAGATTATATATATAATCTATATTA TATATAATCTATATTATA	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding		2392		chr12	TogoVar
ATP11A_chr13_112685038_112892168	112778834	G G	GCTGGAGT others(95): Show GCTGGAGTGAGTAGCCACTGGAGTGAGTAGCCGCTGGAGTGAGGAGTAGC CACTGGAGTGAGTAGCCGCTGGAGTGAGGAGTAGCCGCTGGAGTGAGTAG CCA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	254	0.0039	102	c.40- others(117): Show c.40-6286_40-6285insACTGGAGTGAGTAGCCGCTGGAGTGAGGAG TAGCCACTGGAGTGAGTAGCCGCTGGAGTGAGGAGTAGCCGCTGGAGTGA GTAGCCACTGGAGTGAGTAGCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP13A3_chr3_194397677_194492002	194421137	G G	GTATATAT others(95): Show GTATATATATATATATAGTTTATATATATATAGTTTATATATATAAACTA TATATATATAAACTATATATATATATATACTATATATATATATATATATA CTA	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18964.hp2 HG02015.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0008 a0001c0001t0013g0119 a0001c0001t0001g0008 a0001c0001t0013g0119	2	304	0.0066	102	c.331 others(121): Show c.3314-1171_3314-1170insTAGTATATATATATATATATATAGTA TATATATATATATAGTTTATATATATATAGTTTATATATATAAACTATAT ATATATAAACTATATATATATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP13A5_chr3_193269789_193383753	193362775	T T	TTCTTTCT others(95): Show TTCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTT CTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCT CTC	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0002 a0006c0005t0002	a0006c0005t0002g0246 a0006c0005t0002g0246	1	284	0.0035	102	c.385 others(117): Show c.385-139_385-138insGAGAGAAAGAAAGAGAGAAAGAAAGAGAGA AAGAAAGAGAGAAAGAAAGAGAGAAAGAAAGAGAGAAAGAAAGAGAGAAA GAAAGAGAGAAAGAAAGAAAGA	ATP13A5	ENSG00000187527.12	transcript	ENST00000342358.9	protein_coding	3/29			chr3	TogoVar
ATP8B1_chr18_57641426_57808315	57642321	G G	GAGTTGTT others(95): Show GAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGTCTCACTAGCTTCAGGAGT GAAGCTTCAGACCTTCACGGTGAGTGTTACAGCCGTTAAGGTGGCGCGTC TGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	314	0.0032	102	c.61 others(113): Show c.6166_*6167insGCAGACGCGCCACCTTAACGGCTGTAACACTCAC CGTGAAGGTCTGAAGCTTCACTCCTGAAGCTAGTGAGACCACGAACCCAC CGGAAGGAACGAACAACT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		4104		chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57642321	G G	GAGTTGTT others(95): Show GAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGTCTCGCTAGCTTCAGGAGT GAAGCTTCAGACCTTCACGGTGAGTGTTACAGCCGTGAAGGTGGCGCGTC TGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	314	0.0032	102	c.61 others(113): Show c.6166_*6167insGCAGACGCGCCACCTTCACGGCTGTAACACTCAC CGTGAAGGTCTGAAGCTTCACTCCTGAAGCTAGCGAGACCACGAACCCAC CGGAAGGAACGAACAACT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		4104		chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57642321	G G	GAGTTGTT others(95): Show GAGTTGTTCGTTCCTTCTGGTGGGTTCGTGGTCTCGCTAGCTTCAGGAGT GAAGCTTCAGACCTTCACGGTGAGTGTTACAGCCGTTAAGGTGGCGCGTC TGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0301 a0001c0001t0002g0301	1	314	0.0032	102	c.61 others(113): Show c.6166_*6167insGCAGACGCGCCACCTTAACGGCTGTAACACTCAC CGTGAAGGTCTGAAGCTTCACTCCTGAAGCTAGCGAGACCACGAACCCAC CAGAAGGAACGAACAACT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		4104		chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57642407	T T	TAAGGTGG others(95): Show TAAGGTGGCGCGTCTGCAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGTCT CGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAGCC GTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00733.hp1 HG01168.hp1 others(12): Show HG00642.hp2 HG00733.hp1 HG01168.hp1 HG01361.hp2 HG01934.hp2 HG01943.hp1 HG02109.hp2 HG02647.hp1 HG02738.hp2 HG03471.hp2 HG03669.hp2 HG03688.hp1 HG04199.hp2 NA18522.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 a0001c0001t0001 a0001c0001t0003 a0001c0001t0021	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(12): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0003g0265 a0001c0001t0003g0269 a0001c0001t0003g0273 a0001c0001t0021g0001 a0001c0001t0021g0002	15	314	0.0478	102	c.60 others(113): Show c.6080_*6081insCACGGCTGTAACACTCACCGTGAAGGTCTGAAGC TTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAACAA CTGCAGACGCGCCACCTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		4018		chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57642509	T T	TAAGGTGG others(95): Show TAAGGTGGCGCGTCTGCAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGTCT CGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAGCC ATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0020 a0001c0001t0008g0020	1	314	0.0032	102	c.59 others(113): Show c.5978_*5979insCATGGCTGTAACACTCACCGTGAAGGTCTGAAGC TTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAACAA CTGCAGACGCGCCACCTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		3916		chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57642509	T T	TAAGGTGG others(95): Show TAAGGTGGCGCGTCTGCAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGTCT CGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAGCC GTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00733.hp2 others(49): Show HG00408.hp2 HG00558.hp2 HG00733.hp2 HG00738.hp1 HG01081.hp2 HG01175.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG02055.hp1 HG02080.hp1 HG02129.hp2 HG02257.hp2 HG02280.hp1 HG02293.hp2 HG02622.hp2 HG02630.hp2 HG02809.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03209.hp2 HG03471.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 NA18522.hp2 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18945.hp1 NA18946.hp1 NA18955.hp2 NA18970.hp2 NA18974.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA18991.hp2 NA19005.hp2 NA19012.hp1 NA19030.hp2 NA19054.hp1 NA19057.hp1 NA19062.hp1 NA19065.hp2 NA19079.hp2 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0014 a0001c0018 others(3): Show a0001c0001 a0001c0014 a0001c0018 a0002c0002 a0003c0003 a0007c0011	a0001c0001t0007 a0001c0001t0008 a0001c0001t0018 others(11): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0018 a0001c0001t0020 a0001c0001t0028 a0001c0001t0050 a0001c0014t0008 a0001c0018t0007 a0002c0002t0014 a0002c0002t0019 a0002c0002t0037 a0003c0003t0018 a0003c0003t0024 a0007c0011t0008	a0001c0001t0007g0196 a0001c0001t0007g0206 a0001c0001t0007g0210 others(49): Show a0001c0001t0007g0196 a0001c0001t0007g0206 a0001c0001t0007g0210 a0001c0001t0007g0212 a0001c0001t0007g0219 a0001c0001t0007g0226 a0001c0001t0007g0247 a0001c0001t0007g0252 a0001c0001t0007g0254 a0001c0001t0007g0255 a0001c0001t0007g0257 a0001c0001t0007g0263 a0001c0001t0007g0270 a0001c0001t0007g0280 a0001c0001t0007g0283 a0001c0001t0007g0300 a0001c0001t0007g0302 a0001c0001t0008g0032 a0001c0001t0008g0033 a0001c0001t0008g0037 a0001c0001t0008g0041 a0001c0001t0008g0051 a0001c0001t0008g0052 a0001c0001t0008g0079 a0001c0001t0008g0099 a0001c0001t0008g0101 a0001c0001t0008g0102 a0001c0001t0008g0104 a0001c0001t0018g0296 a0001c0001t0018g0297 a0001c0001t0020g0165 a0001c0001t0020g0171 a0001c0001t0020g0193 a0001c0001t0028g0304 a0001c0001t0028g0308 a0001c0001t0050g0305 a0001c0014t0008g0123 a0001c0018t0007g0234 a0002c0002t0014g0207 a0002c0002t0014g0229 a0002c0002t0014g0237 a0002c0002t0014g0266 a0002c0002t0014g0274 a0002c0002t0014g0293 a0002c0002t0019g0038 a0002c0002t0019g0048 a0002c0002t0019g0137 a0002c0002t0037g0175 a0003c0003t0018g0267 a0003c0003t0024g0144 a0003c0003t0024g0185 a0007c0011t0008g0084	52	314	0.1656	102	c.59 others(113): Show c.5978_*5979insCACGGCTGTAACACTCACCGTGAAGGTCTGAAGC TTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAACAA CTGCAGACGCGCCACCTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		3916		chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57642509	T T	TAAGGTGG others(95): Show TAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGTCT CGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAGCC GTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03834.hp1 HG03704.hp2 HG03834.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0018 a0003c0003t0022 a0003c0003t0018 a0003c0003t0022	a0003c0003t0018g0282 a0003c0003t0022g0135 a0003c0003t0018g0282 a0003c0003t0022g0135	2	314	0.0064	102	c.59 others(113): Show c.5978_*5979insCACGGCTGTAACACTCACCGTGAAGGTCTGAAGC TTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAACAA CTCCACACGCGCCACCTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		3916		chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57642729	G G	GAGTTGTT others(95): Show GAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGTCTCGCTAGCTTCAGGAGT GAAGCTTCAGACCTTCACGGTGAGTGTTACAGCCGTTAAGGTGGCGCGTC TGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02886.hp2 HG02970.hp2 others(2): Show HG02647.hp2 HG02886.hp2 HG02970.hp2 HG03098.hp2 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0004c0008 a0001c0001 a0004c0004 a0004c0008	a0001c0001t0002 a0004c0004t0034 a0004c0004t0046 others(2): Show a0001c0001t0002 a0004c0004t0034 a0004c0004t0046 a0004c0004t0047 a0004c0008t0004	a0001c0001t0002g0301 a0004c0004t0034g0088 a0004c0004t0046g0291 others(2): Show a0001c0001t0002g0301 a0004c0004t0034g0088 a0004c0004t0046g0291 a0004c0004t0047g0204 a0004c0008t0004g0004	5	314	0.0159	102	c.57 others(113): Show c.5758_*5759insGCAGACGCGCCACCTTAACGGCTGTAACACTCAC CGTGAAGGTCTGAAGCTTCACTCCTGAAGCTAGCGAGACCACGAACCCAC CGGAAGGAACGAACAACT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		3696		chr18	TogoVar
AUTS2_chr7_69593475_70798506	70004170	A A	AATATATA others(95): Show AATATATATGAATGTGTTATATGTGAATATATATATTATATATGAATGTG TTATATGTGAATATATATAATATGAATGTGTTATATGTGAATATATATAT TAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01952.hp2 HG02258.hp2 others(9): Show HG01433.hp1 HG01952.hp2 HG02258.hp2 HG02622.hp1 HG02647.hp1 HG02717.hp2 HG02886.hp2 HG03225.hp2 HG03453.hp2 HG03540.hp2 HG03579.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0010 a0001c0001 a0001c0003 a0002c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0019 a0001c0001t0023 a0001c0001t0032 a0001c0003t0027 a0002c0010t0033	a0001c0001t0001g0030 a0001c0001t0001g0073 a0001c0001t0001g0074 others(9): Show a0001c0001t0001g0030 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0003g0076 a0001c0001t0005g0005 a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0001t0019g0075 a0001c0001t0023g0072 a0001c0001t0032g0016 a0001c0003t0027g0009 a0002c0010t0033g0014	12	76	0.1579	102	c.522 others(123): Show c.522+104676_522+104677insATATGAATGTGTTATATGTGAATA TATATATTATATATGAATGTGTTATATGTGAATATATATAATATGAATGT GTTATATGTGAATATATATATTATATAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AZU1_chr19_822837_837018	828673	A A	AAAGGGGG others(95): Show AAAGGGGGTCAGATGGGGGAGGCCCAGAGAAGGGAAGGGGCTCAGATGGA GGAGGGGGCCCAGAGAAAGGAAGGGGCTCAGATGGAGGAGGTGCAGAGAA GGG	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA19003.hp2 NA18956.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	2	391	0.0051	102	c.215 others(117): Show c.215+342_215+443dupGGGCCCAGAGAAAGGAAGGGGCTCAGATGG AGGAGGTGCAGAGAAGGGAAGGGGGTCAGATGGGGGAGGCCCAGAGAAGG GAAGGGGCTCAGATGGAGGAGG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
AZU1_chr19_822837_837018	829192	G G	GCCCCAGA others(95): Show GCCCCAGATAAGGGAATGGGGTCAGATGGAGGAGGTGCAGAGAAGGGAAG GGGGTCAGATGGAGGAGGCACAGAGAAGGGGAAGGGGCTCAGATGGAGGA GGT	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	391	0.0026	102	c.216 others(117): Show c.216-370_216-369insCCCCAGATAAGGGAATGGGGTCAGATGGAG GAGGTGCAGAGAAGGGAAGGGGGTCAGATGGAGGAGGCACAGAGAAGGGG AAGGGGCTCAGATGGAGGAGGT	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding	2/4			chr19	TogoVar

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