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	73945848	T T	TCACCTGA others(28): Show TCACCTGAAGTCAGGAGTTCGAGACCAGCCTGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	188	0.0053	35	c.48 others(46): Show c.4835_*4836insCACCTGAAGTCAGGAGTTCGAGACCAGCCTGGCC A	ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding		3859		chr5	TogoVar
ARHGEF38_chr4_105547620_105685914	105561398	A A	AAGAATAG others(28): Show AAGAATAGAATAGAATAGAATAGAATAGAATAGAAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0078 a0001c0002t0002g0078	1	186	0.0054	35	c.196 others(52): Show c.196+8438_196+8439insGAATAGAATAGAATAGAATAGAATAGAA TAGAATA	ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGEF38_chr4_105547620_105685914	105561419	A A	AGAATGGA others(28): Show AGAATGGAATGGAATGGAATGGAATGGAATGGAATG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0029 a0003c0007t0002g0029	1	186	0.0054	35	c.196 others(52): Show c.196+8467_196+8468insGGAATGGAATGGAATGGAATGGAATGGA ATGGAAT	ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGEF38_chr4_105547620_105685914	105561424	G G	GGAATAGA others(28): Show GGAATAGAATAGAATAGAATAGAATAGAATAGAATA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0051 a0002c0001t0001g0051	1	186	0.0054	35	c.196 others(52): Show c.196+8487_196+8488insAGAATAGAATAGAATAGAATAGAATAGA ATAGAAT	ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGEF38_chr4_105547620_105685914	105561424	G G	GGAATGGA others(28): Show GGAATGGAATGGAATGGAATGGAATAGAATAGAATA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0113 a0001c0003t0002g0113	1	186	0.0054	35	c.196 others(52): Show c.196+8467_196+8468insGGAATGGAATGGAATGGAATAGAATAGA ATAGAAT	ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGEF38_chr4_105547620_105685914	105561434	A A	AGAATGGA others(28): Show AGAATGGAATGGAATGGAATGGAATGGAATGGAATG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03225.hp1 NA19043.hp1 HG02897.hp2 HG03225.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0007 a0001c0003 a0003c0007	a0001c0003t0003 a0003c0007t0002 a0001c0003t0003 a0003c0007t0002	a0001c0003t0003g0033 a0001c0003t0003g0034 a0003c0007t0002g0009 a0001c0003t0003g0033 a0001c0003t0003g0034 a0003c0007t0002g0009	3	186	0.0161	35	c.196 others(52): Show c.196+8477_196+8478insGGAATGGAATGGAATGGAATGGAATGGA ATGGAAT	ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGEF38_chr4_105547620_105685914	105561444	A A	AGAATAGA others(28): Show AGAATAGAATAGAATAGAATAGAATAGAATAGAATG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0056 a0003c0005t0004g0056	1	186	0.0054	35	c.196 others(52): Show c.196+8487_196+8488insAGAATAGAATAGAATAGAATAGAATAGA ATGGAAT	ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGEF38_chr4_105547620_105685914	105561444	A A	AGAATGGA others(28): Show AGAATGGAATGGAATGGAATGGAATGGAATGGAATG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp2 HG00639.hp2 HG00741.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0004c0006 a0001c0004 a0004c0006	a0001c0004t0005 a0004c0006t0001 a0001c0004t0005 a0004c0006t0001	a0001c0004t0005g0085 a0004c0006t0001g0038 a0001c0004t0005g0085 a0004c0006t0001g0038	2	186	0.0108	35	c.196 others(52): Show c.196+8492_196+8493insGGAATGGAATGGAATGGAATGGAATGGA ATGGAAT	ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGEF38_chr4_105547620_105685914	105561464	A A	AGAATAGA others(28): Show AGAATAGAATAGAATGGAATGGAATGGAATGGAATG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01175.hp2 HG01109.hp1 HG01175.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0042 a0001c0004t0005g0043 a0001c0004t0005g0042 a0001c0004t0005g0043	2	186	0.0108	35	c.196 others(52): Show c.196+8517_196+8518insGGAATGGAATGGAATGGAATGGAATAGA ATAGAAT	ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARID1B_chr6_156772378_157215779	156893045	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0013 a0013	a0013c0025 a0013c0025	a0013c0025t0005 a0013c0025t0005	a0013c0025t0005g0133 a0013c0025t0005g0133	1	150	0.0067	35	c.198 others(54): Show c.1987-8316_1987-8315insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARID4A_chr14_58293555_58378876	58337246	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	294	0.0034	35	c.906 others(52): Show c.906+7077_906+7078insATATATATATATATATATATATATATAT ATATATA	ARID4A	ENSG00000032219.19	transcript	ENST00000355431.8	protein_coding	11/23			chr14	TogoVar
ARL14EP_chr11_30318104_30343223	30334208	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03654.hp2 NA18973.hp2 others(2): Show HG00609.hp1 HG03654.hp2 NA18973.hp2 NA18975.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0062 a0001c0001t0001g0094 others(1): Show a0001c0001t0001g0041 a0001c0001t0001g0062 a0001c0001t0001g0094 a0001c0001t0001g0095	5	400	0.0125	35	c.554 others(52): Show c.554+1240_554+1241insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	ARL14EP	ENSG00000152219.5	transcript	ENST00000282032.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARL6IP5_chr3_69079937_69111092	69105638	C C	CTACTGCA others(28): Show CTACTGCAGCTAATAAAAAATTTTAGATAGCAATTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0115 a0001c0001t0015g0115	1	434	0.0023	35	c.10 others(46): Show c.1004_*1038dupACTGCAGCTAATAAAAAATTTTAGATAGCAATTG T	ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding	3/3	1039	INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL6IP5_chr3_69079937_69111092	69110853	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA19003.hp1 NA18986.hp1 NA19003.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0253 a0001c0002t0002g0265 a0001c0002t0002g0253 a0001c0002t0002g0265	2	434	0.0046	35	c.62 others(46): Show c.6217_*6218insAAAAAAAAAAAAAAAAAAAAAATATATATATATA T	ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding		4762		chr3	TogoVar
ARL6IP5_chr3_69079937_69111092	69110853	A A	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0058 a0001c0002t0002g0058	1	434	0.0023	35	c.62 others(46): Show c.6217_*6218insAATATATATATATATATATATATATATATATATA T	ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding		4762		chr3	TogoVar
ARMC10_chr7_103070140_103104759	103099593	T T	TGTGTGTG others(28): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp2 HG01261.hp1 HG02647.hp1 others(3): Show HG00597.hp2 HG01261.hp1 HG02647.hp1 HG04204.hp1 NA18747.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0039 a0001c0001t0079 a0001c0001t0025 a0001c0001t0039 a0001c0001t0079	a0001c0001t0025g0002 a0001c0001t0025g0112 a0001c0001t0025g0127 others(3): Show a0001c0001t0025g0002 a0001c0001t0025g0112 a0001c0001t0025g0127 a0001c0001t0039g0093 a0001c0001t0039g0103 a0001c0001t0079g0026	6	390	0.0154	35	c.10 others(46): Show c.1040_*1041insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT G	ARMC10	ENSG00000170632.14	transcript	ENST00000323716.8	protein_coding	7/7	1041		chr7	TogoVar
ARNT2_chr15_80399382_80602933	80426058	C C	CGAAAAGA others(28): Show CGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0191 a0001c0001t0010g0191	1	268	0.0037	35	c.31+ others(52): Show c.31+21541_31+21542insAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAA	ARNT2	ENSG00000172379.22	transcript	ENST00000303329.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
ARNT2_chr15_80399382_80602933	80433233	A A	ATTTATTT others(28): Show ATTTATTTTATTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	268	0.0037	35	c.32- others(52): Show c.32-17613_32-17579dupATTTTATTTTATTTTATTTTATTTTATT TTATTTT	ARNT2	ENSG00000172379.22	transcript	ENST00000303329.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
ARPC2_chr2_218212189_218259348	218215618	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG03704.hp1 HG03834.hp2 others(1): Show HG01361.hp1 HG03704.hp1 HG03834.hp2 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0171 a0001c0001t0001g0188 others(1): Show a0001c0001t0001g0161 a0001c0001t0001g0171 a0001c0001t0001g0188 a0001c0001t0001g0201	4	332	0.0121	35	c.-16 others(46): Show c.-1645_-1644insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	ARPC2	ENSG00000163466.16	transcript	ENST00000315717.10	protein_coding		1570		chr2	TogoVar
ARRB1_chr11_75255122_75356661	75275123	A A	ATTTATTT others(28): Show ATTTATTTTATTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0183 a0001c0002t0001g0183	1	320	0.0031	35	c.777 others(50): Show c.777-947_777-913dupATAAAATAAAATAAAATAAAATAAAATAAA ATAAA	ARRB1	ENSG00000137486.17	transcript	ENST00000420843.7	protein_coding	10/15			chr11	TogoVar
ARSA_chr22_50617754_50633152	50628185	G G	GCGGGGCC others(28): Show GCGGGGCCGGGGGCGGGGCCGGGAGCGGGCCGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG02698.hp2 HG04115.hp2 HG01069.hp1 HG02698.hp2 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0003 a0002c0004t0028 a0001c0001t0003 a0002c0004t0028	a0001c0001t0003g0085 a0002c0004t0028g0042 a0001c0001t0003g0085 a0002c0004t0028g0042	3	460	0.0065	35	c.-40 others(44): Show c.-407_-406insGCCCCGGCCCGCTCCCGGCCCCGCCCCCGGCCCCG	ARSA	ENSG00000100299.18	transcript	ENST00000216124.10	protein_coding		34		chr22	TogoVar
ARSB_chr5_78772209_78990310	78937325	T T	TATATATG others(28): Show TATATATGTAAGATATATATATCATATATACGTAAG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01433.hp2 others(2): Show HG01257.hp2 HG01258.hp2 HG01433.hp2 HG01952.hp2 HG02293.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0004 a0003c0004t0012 a0003c0004t0001 a0003c0004t0004 a0003c0004t0012	a0003c0004t0001g0001 a0003c0004t0001g0124 a0003c0004t0004g0122 others(1): Show a0003c0004t0001g0001 a0003c0004t0001g0124 a0003c0004t0004g0122 a0003c0004t0012g0123	5	360	0.0139	35	c.898 others(54): Show c.898+17969_898+17970insCTTACGTATATATGATATATATATCT TACATATAT	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	4/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78937325	T T	TATATATG others(28): Show TATATATGTAAGATATATATATCATATATATGTAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(79): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00558.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01255.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01517.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02074.hp2 HG02080.hp1 HG02129.hp2 HG02145.hp2 HG02280.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02647.hp2 HG02683.hp1 HG02735.hp2 HG02886.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03669.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 NA18612.hp2 NA18747.hp1 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp1 NA18968.hp1 NA18968.hp2 NA18972.hp1 NA18978.hp1 NA18979.hp1 NA18985.hp1 NA18986.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA19002.hp1 NA19003.hp1 NA19043.hp1 NA19062.hp2 NA19065.hp1 NA19068.hp1 NA19074.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0005 others(7): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0002c0002 a0002c0010 a0002c0011 a0003c0004 a0003c0014 a0004c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(49): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0018 a0001c0001t0021 a0001c0001t0025 a0001c0003t0002 a0001c0003t0009 a0001c0003t0058 a0001c0005t0075 a0001c0007t0068 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0002c0002t0015 a0002c0002t0018 a0002c0002t0023 a0002c0002t0025 a0002c0002t0026 a0002c0002t0038 a0002c0002t0050 a0002c0010t0003 a0002c0011t0053 a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0003c0004t0004 a0003c0004t0007 a0003c0004t0011 a0003c0004t0014 a0003c0004t0023 a0003c0004t0029 a0003c0004t0033 a0003c0004t0049 a0003c0004t0054 a0003c0004t0062 a0003c0004t0072 a0003c0014t0015 a0004c0006t0016	a0001c0001t0002g0039 a0001c0001t0003g0019 a0001c0001t0003g0021 others(79): Show a0001c0001t0002g0039 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0140 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0004g0083 a0001c0001t0005g0038 a0001c0001t0006g0356 a0001c0001t0008g0131 a0001c0001t0010g0141 a0001c0001t0011g0046 a0001c0001t0018g0130 a0001c0001t0021g0347 a0001c0001t0025g0316 a0001c0003t0002g0253 a0001c0003t0009g0281 a0001c0003t0058g0045 a0001c0005t0075g0112 a0001c0007t0068g0111 a0002c0002t0001g0231 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0310 a0002c0002t0002g0125 a0002c0002t0002g0179 a0002c0002t0002g0295 a0002c0002t0002g0312 a0002c0002t0002g0314 a0002c0002t0003g0129 a0002c0002t0003g0137 a0002c0002t0003g0196 a0002c0002t0003g0197 a0002c0002t0003g0225 a0002c0002t0004g0079 a0002c0002t0005g0241 a0002c0002t0007g0044 a0002c0002t0007g0081 a0002c0002t0007g0313 a0002c0002t0008g0311 a0002c0002t0009g0080 a0002c0002t0009g0136 a0002c0002t0009g0138 a0002c0002t0009g0309 a0002c0002t0012g0228 a0002c0002t0013g0300 a0002c0002t0014g0106 a0002c0002t0015g0207 a0002c0002t0015g0296 a0002c0002t0018g0308 a0002c0002t0023g0162 a0002c0002t0025g0213 a0002c0002t0026g0086 a0002c0002t0038g0006 a0002c0002t0050g0008 a0002c0010t0003g0161 a0002c0010t0003g0322 a0002c0011t0053g0002 a0003c0004t0001g0153 a0003c0004t0001g0154 a0003c0004t0001g0187 a0003c0004t0002g0128 a0003c0004t0002g0243 a0003c0004t0003g0283 a0003c0004t0003g0292 a0003c0004t0004g0149 a0003c0004t0004g0150 a0003c0004t0007g0152 a0003c0004t0007g0331 a0003c0004t0011g0007 a0003c0004t0014g0164 a0003c0004t0023g0148 a0003c0004t0023g0151 a0003c0004t0029g0108 a0003c0004t0029g0109 a0003c0004t0033g0282 a0003c0004t0049g0139 a0003c0004t0054g0142 a0003c0004t0062g0133 a0003c0004t0072g0323 a0003c0014t0015g0202 a0004c0006t0016g0163	82	360	0.2278	35	c.898 others(54): Show c.898+17969_898+17970insCTTACATATATATGATATATATATCT TACATATAT	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	4/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78989777	G G	GTTCCTTT others(28): Show GTTCCTTTTATTTATGATATGTATTTACTACTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0003 a0002c0010t0003	a0002c0010t0003g0322 a0002c0010t0003g0322	1	360	0.0028	35	c.-45 others(46): Show c.-4530_-4529insAAAAAGTAGTAAATACATATCATAAATAAAAGGA A	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding		4468		chr5	TogoVar
ARSG_chr17_68286495_68425814	68323231	T T	TATCCTCA others(28): Show TATCCTCACTTACATATGAGTAAAATGAAGTTCAGA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	304	0.0033	35	c.218 others(54): Show c.218+15521_218+15555dupATCCTCACTTACATATGAGTAAAATG AAGTTCAGA	ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ASAP1_chr8_130047104_130448674	130072825	G G	GTGTGTGC others(28): Show GTGTGTGCGCGTGTGCGTGCGCGCGCTGCGCGCGCA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0147 a0002c0002t0001g0147	1	308	0.0033	35	c.270 others(54): Show c.2701+3522_2701+3523insTGCGCGCGCAGCGCGCGCACGCACAC GCGCACACA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130101732	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	308	0.0033	35	c.240 others(54): Show c.2402-9590_2402-9589insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	24/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130215975	A A	AAAAGGAA others(28): Show AAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02293.hp2 HG01943.hp1 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0163 a0001c0001t0001g0053 a0001c0001t0001g0163	2	308	0.0065	35	c.260 others(52): Show c.260-1309_260-1275dupCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	4/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130276760	T T	TCTCTCTC others(28): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0018 a0002c0003t0010g0018	1	308	0.0033	35	c.187 others(54): Show c.187-39767_187-39766insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAG	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0130 a0002c0005t0001g0130	1	210	0.0048	35	c.127 others(54): Show c.127-25080_127-25079insAAAAAAATATATATATATATATATAT ATATATATA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAAAAAT others(28): Show AAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0017 a0001c0003t0001g0017	1	210	0.0048	35	c.127 others(54): Show c.127-25080_127-25079insAAAAATATATATATATATATATATAT ATATATATA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9397750	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0038 a0001c0003t0004g0038	1	210	0.0048	35	c.268 others(54): Show c.2685-2272_2685-2271insATATATATATATATATATATATATAT TTTTTTTTT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	24/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASB13_chr10_5633867_5671595	5662565	G G	GGAGAAGA others(28): Show GGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	intron_variant intron_variant	MODIFIER	HG01993.hp1 NA18946.hp1 NA19058.hp1 HG01993.hp1 NA18946.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0013 a0001c0001t0007 a0001c0001t0013	a0001c0001t0007g0153 a0001c0001t0007g0355 a0001c0001t0013g0250 a0001c0001t0007g0153 a0001c0001t0007g0355 a0001c0001t0013g0250	3	446	0.0067	35	c.43+ others(50): Show c.43+3909_43+3943dupTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC TTCTC	ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	1/5			chr10	TogoVar
ASB13_chr10_5633867_5671595	5662565	G G	GGAGGAGA others(28): Show GGAGGAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	446	0.0022	35	c.43+ others(50): Show c.43+3943_43+3944insTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC TCCTC	ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	1/5			chr10	TogoVar
ASB13_chr10_5633867_5671595	5662565	G G	GGAGGGGA others(28): Show GGAGGGGAGAACAGAAGAGAAGAGAAGAGAAGAGAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01175.hp2 HG02129.hp1 others(3): Show HG00735.hp2 HG01175.hp2 HG02129.hp1 HG03471.hp1 HG03540.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0017	a0001c0001t0001g0410 a0001c0001t0001g0411 a0001c0001t0002g0371 others(3): Show a0001c0001t0001g0410 a0001c0001t0001g0411 a0001c0001t0002g0371 a0001c0001t0006g0369 a0001c0001t0006g0370 a0001c0001t0017g0394	6	446	0.0135	35	c.43+ others(50): Show c.43+3943_43+3944insTTCTCTTCTCTTCTCTTCTCTTCTGTTCTC CCCTC	ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	1/5			chr10	TogoVar
ASB18_chr2_236188459_236269406	236202794	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	250	0.0040	35	c.110 others(54): Show c.1102-6410_1102-6409insATATATATATATATATATATTTTTTT TTTTTTTTT	ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	4/5			chr2	TogoVar
ASB18_chr2_236188459_236269406	236202794	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	250	0.0040	35	c.110 others(54): Show c.1102-6410_1102-6409insATATATATATATATATATATATATTT TTTTTTTTT	ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	4/5			chr2	TogoVar
ASIP_chr20_34236423_34274344	34258700	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATACACACATAC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA19090.hp1 NA18945.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0200 a0001c0001t0002g0043 a0001c0001t0002g0200	2	306	0.0065	35	c.-10 others(52): Show c.-10-1656_-10-1655insATATATATATATATATACACACATACTA TATATAT	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASMT_chrX_1610059_1648081	1613196	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0139 a0006c0011t0001g0139	1	223	0.0045	35	c.-20 others(46): Show c.-2004_-2003insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT C	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		1862		chrX	TogoVar
ASMT_chrX_1610059_1648081	1647128	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG01081.hp2 others(6): Show HG00438.hp2 HG00544.hp2 HG01081.hp2 HG02896.hp2 HG03453.hp2 NA18951.hp1 NA18999.hp1 NA19002.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0006	a0001c0001t0001 a0001c0003t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0003t0002 a0002c0002t0001 a0002c0006t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0063 others(6): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0063 a0001c0001t0001g0072 a0001c0001t0001g0206 a0001c0003t0002g0149 a0002c0002t0001g0015 a0002c0002t0001g0074 a0002c0006t0001g0187	9	223	0.0404	35	c.41 others(46): Show c.4114_*4115insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT C	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		4048		chrX	TogoVar
ASTN1_chr1_176856067_177169712	177149485	A A	AATATATA others(28): Show AATATATATAGTATATATATAGTAAATATATATAGT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01993.hp1 HG03471.hp1 others(5): Show HG01071.hp1 HG01993.hp1 HG03471.hp1 HG03834.hp1 HG06807.hp1 NA18952.hp1 NA19062.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0006 others(2): Show a0001c0002 a0001c0003 a0001c0006 a0002c0004 a0002c0007	a0001c0002t0015 a0001c0003t0008 a0001c0006t0001 others(2): Show a0001c0002t0015 a0001c0003t0008 a0001c0006t0001 a0002c0004t0003 a0002c0007t0001	a0001c0002t0015g0039 a0001c0003t0008g0062 a0001c0006t0001g0063 others(5): Show a0001c0002t0015g0039 a0001c0003t0008g0062 a0001c0006t0001g0063 a0002c0004t0003g0057 a0002c0004t0003g0060 a0002c0004t0003g0061 a0002c0004t0003g0065 a0002c0007t0001g0105	8	112	0.0714	35	c.283 others(54): Show c.283+14874_283+14908dupACTATATATATTTACTATATATATAC TATATATAT	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	1/22			chr1	TogoVar
ASTN2_chr9_116418112_117420057	117048963	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0061 a0001c0002t0002g0061	1	102	0.0098	35	c.127 others(54): Show c.1277-8999_1277-8998insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117060510	A A	AAAGAAAG others(28): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0011 a0001c0007t0001g0011	1	102	0.0098	35	c.127 others(56): Show c.1277-20546_1277-20545insCCTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117060510	A A	AAAGAAAG others(28): Show AAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp1 HG01243.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0005 a0001c0001t0001 a0001c0008t0005	a0001c0001t0001g0028 a0001c0008t0005g0073 a0001c0001t0001g0028 a0001c0008t0005g0073	2	102	0.0196	35	c.127 others(56): Show c.1277-20546_1277-20545insCCTTCCTTCCTTCCTTCCTTCTTT CTTTCTTTCTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117060510	A A	AAAGAAAG others(28): Show AAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0074 a0001c0003t0007g0074	1	102	0.0098	35	c.127 others(56): Show c.1277-20546_1277-20545insCCTTCCTTCCTTCCTTCCTTCCTT CCTTCTTTCTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ASXL2_chr2_25728753_25883487	25849064	C C	CATTATAT others(28): Show CATTATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	222	0.0045	35	c.58- others(50): Show c.58-3502_58-3501insATATATATATATATATATATATATATATAT ATAAT	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	1/12			chr2	TogoVar
ATAD1_chr10_87746512_87823226	87798625	G G	GTGTGTGT others(28): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA20752.hp1 NA18522.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0131 a0001c0001t0003g0069 a0001c0001t0003g0131	2	360	0.0056	35	c.163 others(52): Show c.163-5871_163-5870insACACACACACACACACACACACACACAC ACACACA	ATAD1	ENSG00000138138.14	transcript	ENST00000680024.1	protein_coding	2/9			chr10	TogoVar
ATAD2_chr8_123314850_123401447	123354864	A A	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0256 a0002c0003t0001g0256	1	278	0.0036	35	c.164 others(54): Show c.1646+1524_1646+1525insATATATATATATATATATATATATAT ATTTTTTTT	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	13/27			chr8	TogoVar
ATAD2_chr8_123314850_123401447	123354864	A A	AAAAAAAT others(28): Show AAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0009 a0002c0004t0003g0009	1	278	0.0036	35	c.164 others(54): Show c.1646+1524_1646+1525insATATATATATATATATATATATATAT ATATTTTTT	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	13/27			chr8	TogoVar
ATF7_chr12_53507054_53631382	53587366	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	330	0.0030	35	c.48+ others(52): Show c.48+13586_48+13587insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11			chr12	TogoVar

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