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
EYA3_chr1_27965344_28093610	28073128	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18984.hp2 NA18980.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0331 a0001c0001t0004g0378 a0001c0001t0004g0331 a0001c0001t0004g0378	2	392	0.0051	25	c.-68 others(44): Show c.-68-15035_-68-15034insTATATATATATATATATATATATAT	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA4_chr6_133236357_133537128	133342605	A A	ATATATAT others(18): Show ATATATATTATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0120 a0001c0001t0012g0120	1	264	0.0038	25	c.34- others(42): Show c.34-39787_34-39786insTATATATTATATATATATATATATC	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	2/19			chr6	TogoVar
EYS_chr6_63714980_65712226	64531549	G G	GTTTATTT others(18): Show GTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03209.hp2 HG02451.hp2 HG03209.hp2	a0004 a0008 a0004 a0008	a0004c0017 a0008c0007 a0004c0017 a0008c0007	a0004c0017t0001 a0008c0007t0001 a0004c0017t0001 a0008c0007t0001	a0004c0017t0001g0002 a0008c0007t0001g0009 a0004c0017t0001g0002 a0008c0007t0001g0009	2	24	0.0833	25	c.564 others(46): Show c.5644+58649_5644+58673dupATAAAATAAAATAAAATAAAATAA A	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	26/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64766649	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0011 a0011	a0011c0001 a0011c0001	a0011c0001t0001 a0011c0001t0001	a0011c0001t0001g0013 a0011c0001t0001g0013	1	24	0.0417	25	c.344 others(46): Show c.3443+46728_3443+46729insATATATATATATATATATATTTTT T	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	22/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64864385	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0006 a0006	a0006c0022 a0006c0022	a0006c0022t0001 a0006c0022t0001	a0006c0022t0001g0011 a0006c0022t0001g0011	1	24	0.0417	25	c.299 others(46): Show c.2992+22311_2992+22312insAAAAAAAAAAAAAAAAAAAAAAAA A	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	19/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65278031	C C	CCTTTTCT others(18): Show CCTTTTCTTTTCTTTTCTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03209.hp1 HG02970.hp1 HG03209.hp1	a0010 a0013 a0010 a0013	a0010c0003 a0013c0020 a0010c0003 a0013c0020	a0010c0003t0001 a0013c0020t0002 a0010c0003t0001 a0013c0020t0002	a0010c0003t0001g0016 a0013c0020t0002g0022 a0010c0003t0001g0016 a0013c0020t0002g0022	2	24	0.0833	25	c.202 others(46): Show c.2023+17807_2023+17831dupAAAAGAAAAGAAAAGAAAAGAAAA G	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	12/42			chr6	TogoVar
F13A1_chr6_6139084_6325662	6311648	T T	TAATATAT others(18): Show TAATATATAAAAACATATATTGTTTA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp1 HG02630.hp2 others(10): Show HG02258.hp2 HG02559.hp1 HG02630.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03225.hp1 HG03579.hp1 NA19043.hp2 NA19240.hp1	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0011 a0012	a0001c0001 a0003c0003 a0003c0024 others(4): Show a0001c0001 a0003c0003 a0003c0024 a0006c0014 a0006c0025 a0011c0018 a0012c0027	a0001c0001t0002 a0003c0003t0001 a0003c0003t0002 others(6): Show a0001c0001t0002 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0024t0002 a0006c0014t0002 a0006c0025t0006 a0011c0018t0002 a0012c0027t0003	a0001c0001t0002g0066 a0003c0003t0001g0003 a0003c0003t0001g0114 others(10): Show a0001c0001t0002g0066 a0003c0003t0001g0003 a0003c0003t0001g0114 a0003c0003t0001g0116 a0003c0003t0002g0068 a0003c0003t0002g0115 a0003c0003t0004g0033 a0003c0003t0004g0069 a0003c0024t0002g0071 a0006c0014t0002g0070 a0006c0025t0006g0067 a0011c0018t0002g0113 a0012c0027t0003g0112	13	292	0.0445	25	c.131 others(42): Show c.131-6110_131-6109insTAAACAATATATGTTTTTATATATT	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	2/14			chr6	TogoVar
F5_chr1_169506951_169591481	169556425	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02155.hp2 NA18957.hp2 others(1): Show HG01361.hp1 HG02155.hp2 NA18957.hp2 NA19240.hp2	a0001 a0009 a0019 a0001 a0009 a0019	a0001c0004 a0009c0016 a0019c0034 a0001c0004 a0009c0016 a0019c0034	a0001c0004t0002 a0009c0016t0003 a0019c0034t0002 a0001c0004t0002 a0009c0016t0003 a0019c0034t0002	a0001c0004t0002g0023 a0001c0004t0002g0024 a0009c0016t0003g0051 others(1): Show a0001c0004t0002g0023 a0001c0004t0002g0024 a0009c0016t0003g0051 a0019c0034t0002g0009	4	306	0.0131	25	c.952 others(40): Show c.952+220_952+221insTTTTTTTTTTTTTTTTTTTTTTTTT	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F7_chr13_113100791_113125685	113105040	A A	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0015 a0002c0010t0015	a0002c0010t0015g0097 a0002c0010t0015g0097	1	400	0.0025	25	c.-80 others(34): Show c.-802_-801insAAAAAAAATATATATATATATATAT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		750		chr13	TogoVar
F8A2_chrX_155377095_155388801	155384120	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA19012.hp1 NA18941.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	2	267	0.0075	25	c.89 others(34): Show c.890_*891insTTTTTTTTTTTTTTTTTTTTTTTTT	F8A2	ENSG00000288709.1	transcript	ENST00000369505.5	protein_coding		320		chrX	TogoVar
FADS2_chr11_61823300_61872354	61861353	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG02004.hp1 others(20): Show HG00597.hp1 HG00609.hp2 HG02004.hp1 HG03239.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18951.hp1 NA18952.hp2 NA18964.hp1 NA18964.hp2 NA18991.hp1 NA18998.hp2 NA19004.hp2 NA19054.hp2 NA19056.hp1 NA19062.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0032 others(17): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0056 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0215 a0001c0001t0001g0223 a0001c0001t0001g0235	23	280	0.0821	25	c.883 others(42): Show c.883-1601_883-1600insAAAAAAAAAAAAAAAAAAAAAAAAA	FADS2	ENSG00000134824.14	transcript	ENST00000278840.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
FADS2_chr11_61823300_61872354	61861353	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAACAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	280	0.0036	25	c.883 others(42): Show c.883-1601_883-1600insAAACAAAAAAAAAAAAAAAAAAAAA	FADS2	ENSG00000134824.14	transcript	ENST00000278840.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAF1_chr1_50432028_50965267	50457724	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA21309.hp2 HG02280.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0020 a0001c0001t0003 a0001c0001t0020	a0001c0001t0003g0086 a0001c0001t0020g0117 a0001c0001t0003g0086 a0001c0001t0020g0117	2	190	0.0105	25	c.187 others(46): Show c.1870-16202_1870-16201insTTTTTTTTTTTTTTTTTTTTTTTT T	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	18/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50917624	A A	AAAAGGAA others(18): Show AAAAGGAAAGGAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18942.hp2 HG02040.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0175 a0001c0001t0005g0170 a0001c0001t0001g0175 a0001c0001t0005g0170	2	190	0.0105	25	c.45+ others(42): Show c.45+42118_45+42142dupCCTTTCCTTTCCTTTCCTTTCCTTT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	1/18			chr1	TogoVar
FAHD1_chr16_1822206_1833910	1830944	A A	ACACACAC others(18): Show ACACACACACACACACCCCACCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01255.hp1 HG01981.hp1 others(8): Show HG00741.hp1 HG01255.hp1 HG01981.hp1 NA18963.hp1 NA18967.hp2 NA18968.hp1 NA18980.hp2 NA18993.hp2 NA19002.hp2 NA19004.hp1 NA19082.hp1	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0002 a0002c0005t0002 a0002c0003t0002 a0002c0005t0002	a0002c0003t0002g0000 a0002c0005t0002g0000 a0002c0003t0002g0000 a0002c0005t0002g0000	11	448	0.0246	25	c.30 others(36): Show c.3040_*3041insCACACACACACACACCCCACCCACC	FAHD1	ENSG00000180185.13	transcript	ENST00000427358.5	protein_coding		2035		chr16	TogoVar
FAH_chr15_80147999_80191349	80153171	G G	GGGAGTGG others(18): Show GGGAGTGGAGTGGAGTGGAGTGGAGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01496.hp1 HG02280.hp1 others(1): Show HG00140.hp2 HG01496.hp1 HG02280.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 others(1): Show a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203	4	428	0.0094	25	c.81+ others(36): Show c.81+55_81+79dupGTGGAGTGGAGTGGAGTGGAGTGGA	FAH	ENSG00000103876.14	transcript	ENST00000561421.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
FAM104A_chr17_73202365_73237394	73222519	T T	TATAATCC others(18): Show TATAATCCCAGCACTTTGGAAGGCCA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	400	0.0025	25	c.321 others(42): Show c.321+4621_321+4645dupTGGCCTTCCAAAGTGCTGGGATTAT	FAM104A	ENSG00000133193.13	transcript	ENST00000405159.8	protein_coding	2/3			chr17	TogoVar
FAM104A_chr17_73202365_73237394	73224960	G G	GACAGCAC others(18): Show GACAGCACAGCACAGGACAGGACAGC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02129.hp1 NA18945.hp2 others(1): Show HG00544.hp2 HG02129.hp1 NA18945.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0201 others(1): Show a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0201 a0001c0009t0001g0357	4	400	0.0100	25	c.321 others(42): Show c.321+2204_321+2205insGCTGTCCTGTCCTGTGCTGTGCTGT	FAM104A	ENSG00000133193.13	transcript	ENST00000405159.8	protein_coding	2/3			chr17	TogoVar
FAM104A_chr17_73202365_73237394	73225867	A A	AATATATA others(18): Show AATATATATATATAATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	400	0.0025	25	c.321 others(42): Show c.321+1297_321+1298insATATATATATATTATATATATATAT	FAM104A	ENSG00000133193.13	transcript	ENST00000405159.8	protein_coding	2/3			chr17	TogoVar
FAM107B_chr10_14513557_14779897	14628112	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0036 a0001c0001t0006g0036	1	272	0.0037	25	c.469 others(44): Show c.469+39521_469+39522insAAAAAAAAAAAAAAAAAAAAAAAAA	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	2/4			chr10	TogoVar
FAM107B_chr10_14513557_14779897	14737766	T T	TCTCTCTC others(18): Show TCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0154 a0001c0001t0006g0154	1	272	0.0037	25	c.411 others(44): Show c.411+36486_411+36487insGAGAGAGAGAGAGAGAGAGAGAGAG	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	1/4			chr10	TogoVar
FAM107B_chr10_14513557_14779897	14767055	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0115 a0001c0001t0003g0115	1	272	0.0037	25	c.411 others(42): Show c.411+7197_411+7198insTATATATATATATATATATATATAT	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	1/4			chr10	TogoVar
FAM110B_chr8_57989523_58153784	58075271	T T	TTGGTGTG others(18): Show TTGGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	300	0.0033	25	c.-41 others(42): Show c.-413-263_-413-262insGGTGTGTGTGTGTGTGTGTGTGTGT	FAM110B	ENSG00000169122.12	transcript	ENST00000519262.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
FAM110D_chr1_26154079_26168962	26159827	A A	AACAGAAT others(18): Show AACAGAATGGGCCACCCACATGGCCC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0015 a0001c0002t0012g0015	1	412	0.0024	25	c.-81 others(40): Show c.-81+701_-81+702insACAGAATGGGCCACCCACATGGCCC	FAM110D	ENSG00000197245.6	transcript	ENST00000374268.5	protein_coding	1/1			chr1	TogoVar
FAM114A1_chr4_38862806_38950739	38880095	A A	AAATAGAG others(18): Show AAATAGAGTAGAATAGAGTAGAATAG	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0118 a0002c0003t0004g0118	1	372	0.0027	25	c.348 others(42): Show c.348+1673_348+1674insGAGTAGAATAGAGTAGAATAGAATA	FAM114A1	ENSG00000197712.12	transcript	ENST00000358869.5	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM114A1_chr4_38862806_38950739	38880107	G G	GTAGAATA others(18): Show GTAGAATAGAGTAGAATAGAATAGAA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0007 a0007	a0007c0049 a0007c0049	a0007c0049t0002 a0007c0049t0002	a0007c0049t0002g0348 a0007c0049t0002g0348	1	372	0.0027	25	c.348 others(42): Show c.348+1690_348+1691insGTAGAATAGAATAGAATAGAATAGA	FAM114A1	ENSG00000197712.12	transcript	ENST00000358869.5	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM117B_chr2_202629969_202774757	202724667	T T	TGTAGTAT others(18): Show TGTAGTATAATTATAATTATGTAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0021 a0001c0001t0011g0021	1	318	0.0031	25	c.754 others(40): Show c.754-249_754-225dupGTAGTATAATTATAATTATGTAAAA	FAM117B	ENSG00000138439.12	transcript	ENST00000392238.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
FAM120A_chr9_93446685_93571112	93545780	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA20300.hp2 NA19077.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0109 a0001c0001t0003g0106 a0001c0001t0003g0109	2	318	0.0063	25	c.215 others(44): Show c.2159+2311_2159+2335dupTTTTTTTTTTTTTTTTTTTTTTTTT	FAM120A	ENSG00000048828.18	transcript	ENST00000277165.11	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
FAM120C_chrX_54063324_54188254	54117354	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01070.hp1 HG01074.hp1 others(13): Show HG00609.hp1 HG01070.hp1 HG01074.hp1 HG01934.hp1 HG02040.hp1 HG03139.hp1 NA18950.hp1 NA18957.hp1 NA18960.hp1 NA18969.hp2 NA18998.hp2 NA19007.hp1 NA19077.hp1 NA19078.hp2 NA19082.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0020 a0001c0001t0074	a0001c0001t0002g0153 a0001c0001t0002g0159 a0001c0001t0002g0160 others(12): Show a0001c0001t0002g0153 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0172 a0001c0001t0004g0045 a0001c0001t0008g0162 a0001c0001t0008g0165 a0001c0001t0008g0170 a0001c0001t0011g0163 a0001c0001t0020g0002 a0001c0001t0074g0157	16	190	0.0842	25	c.206 others(42): Show c.2063-585_2063-561dupATTTTATTTTATTTTATTTTATTTT	FAM120C	ENSG00000184083.12	transcript	ENST00000375180.7	protein_coding	9/15			chrX	TogoVar
FAM131C_chr1_16052769_16078651	16063332	T T	TCCCTGGA others(18): Show TCCCTGGATGCTCAGTCCAGTCCAGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01167.hp1 HG01169.hp2 others(13): Show HG00323.hp2 HG01167.hp1 HG01169.hp2 HG01243.hp2 HG01934.hp2 HG02280.hp1 HG02451.hp1 HG02572.hp2 HG02717.hp2 HG02809.hp1 HG02970.hp1 HG03130.hp1 HG03209.hp1 HG03471.hp2 HG03540.hp2 HG03942.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0003c0013 a0005c0005 a0003c0003 a0003c0013 a0005c0005	a0003c0003t0008 a0003c0013t0035 a0005c0005t0010 others(3): Show a0003c0003t0008 a0003c0013t0035 a0005c0005t0010 a0005c0005t0011 a0005c0005t0018 a0005c0005t0031	a0003c0003t0008g0052 a0003c0003t0008g0053 a0003c0003t0008g0162 others(8): Show a0003c0003t0008g0052 a0003c0003t0008g0053 a0003c0003t0008g0162 a0003c0013t0035g0170 a0005c0005t0010g0016 a0005c0005t0010g0057 a0005c0005t0010g0058 a0005c0005t0011g0171 a0005c0005t0018g0156 a0005c0005t0018g0158 a0005c0005t0031g0157	16	376	0.0426	25	c.138 others(40): Show c.138+164_138+188dupGCTGGACTGGACTGAGCATCCAGGG	FAM131C	ENSG00000185519.9	transcript	ENST00000375662.5	protein_coding	2/6			chr1	TogoVar
FAM135A_chr6_70408508_70566174	70565183	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0212 a0001c0009t0001g0212	1	268	0.0037	25	c.52 others(36): Show c.5262_*5263insTTTTTTTTTTTTTTTTTTTTTTTTT	FAM135A	ENSG00000082269.17	transcript	ENST00000418814.7	protein_coding		4010		chr6	TogoVar
FAM13A_chr4_88720960_89062185	89061609	T T	TTTTTTTT others(18): Show TTTTTTTTTTTTTTTTTTTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0166 a0001c0003t0018g0166	1	208	0.0048	25	c.-46 others(36): Show c.-4646_-4645insCAAAAAAAAAAAAAAAAAAAAAAAA	FAM13A	ENSG00000138640.15	transcript	ENST00000264344.10	protein_coding		4425		chr4	TogoVar
FAM13C_chr10_59241133_59367549	59304761	G G	GAGGGAAG others(18): Show GAGGGAAGGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02280.hp1 others(19): Show HG01884.hp1 HG02055.hp2 HG02280.hp1 HG02559.hp1 HG02622.hp2 HG02683.hp1 HG02698.hp2 HG03486.hp2 HG03492.hp1 HG03540.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18939.hp1 NA18954.hp1 NA18956.hp2 NA18965.hp2 NA18970.hp1 NA18988.hp1 NA18994.hp1 NA19077.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0047 a0001c0001t0001g0061 a0001c0001t0001g0070 others(19): Show a0001c0001t0001g0047 a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0001g0117 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0180 a0001c0001t0001g0202 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0075 a0001c0001t0002g0079 a0001c0001t0002g0119 a0001c0001t0002g0125 a0001c0001t0002g0135 a0001c0001t0003g0034 a0002c0002t0001g0035 a0002c0002t0001g0036	22	204	0.1078	25	c.444 others(42): Show c.444-1922_444-1898dupTCCCTTCCCTTCCCTTCCCTTCCCT	FAM13C	ENSG00000148541.13	transcript	ENST00000618804.5	protein_coding	4/13			chr10	TogoVar
FAM163A_chr1_179738291_179821198	179783744	A A	ATATTATA others(18): Show ATATTATATATATATATTATATAATT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0203 a0001c0001t0026g0203	1	226	0.0044	25	c.-13 others(46): Show c.-135-24040_-135-24039insATTATATAATTTATTATATATATA T	FAM163A	ENSG00000143340.7	transcript	ENST00000341785.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
FAM163B_chr9_133572081_133614389	133610255	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	382	0.0026	25	c.-12 others(36): Show c.-1203_-1202insAAAAAAAAAAAAAAAAAAAAAAAAA	FAM163B	ENSG00000196990.10	transcript	ENST00000673969.1	protein_coding		867		chr9	TogoVar
FAM171A2_chr17_44348215_44368853	44368147	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	25	c.-44 others(36): Show c.-4434_-4433insTATATATATATATATATATATATAT	FAM171A2	ENSG00000161682.15	transcript	ENST00000293443.12	protein_coding		4295		chr17	TogoVar
FAM172A_chr5_93612725_94116663	93873314	A A	AGAAAGGA others(18): Show AGAAAGGAAAGGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02970.hp1 HG01070.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0028 a0001c0001t0002g0015 a0001c0001t0001g0028 a0001c0001t0002g0015	2	126	0.0159	25	c.786 others(42): Show c.786+8131_786+8155dupCTTTCCTTTCCTTTCCTTTCCTTTC	FAM172A	ENSG00000113391.19	transcript	ENST00000395965.8	protein_coding	7/10			chr5	TogoVar
FAM181B_chr11_82724940_82738864	82728870	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00733.hp2 others(11): Show HG00280.hp1 HG00639.hp1 HG00733.hp2 HG01069.hp2 HG01071.hp1 HG01168.hp1 HG01981.hp2 HG02698.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp1 HG03834.hp1 NA18962.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	14	426	0.0329	25	c.35 others(36): Show c.3578_*3579insTTTTTTTTTTTTTTTTTTTTTTTTT	FAM181B	ENSG00000182103.5	transcript	ENST00000329203.5	protein_coding		1069		chr11	TogoVar
FAM181B_chr11_82724940_82738864	82728871	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG02071.hp2 HG02559.hp1 others(4): Show HG01256.hp1 HG02071.hp2 HG02559.hp1 HG02818.hp2 NA19066.hp1 NA20805.hp2 NA20905.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0005 a0004c0003 a0002c0002 a0003c0005 a0004c0003	a0002c0002t0001 a0003c0005t0001 a0003c0005t0015 others(1): Show a0002c0002t0001 a0003c0005t0001 a0003c0005t0015 a0004c0003t0008	a0002c0002t0001g0000 a0003c0005t0001g0000 a0003c0005t0015g0000 others(1): Show a0002c0002t0001g0000 a0003c0005t0001g0000 a0003c0005t0015g0000 a0004c0003t0008g0000	7	426	0.0164	25	c.35 others(36): Show c.3577_*3578insTTTTTTTTTTTTTTTTTTTTTTTTT	FAM181B	ENSG00000182103.5	transcript	ENST00000329203.5	protein_coding		1068		chr11	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02523.hp1 NA18991.hp1 others(1): Show HG02083.hp2 HG02523.hp1 NA18991.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0155 a0001c0001t0001g0172 others(1): Show a0001c0001t0001g0147 a0001c0001t0001g0155 a0001c0001t0001g0172 a0001c0001t0001g0176	4	286	0.0140	25	c.291 others(44): Show c.2916-3057_2916-3056insAAAAATATATATATATATATATATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184B_chr4_17624306_17786621	17721383	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0016 a0016	a0016c0025 a0016c0025	a0016c0025t0021 a0016c0025t0021	a0016c0025t0021g0225 a0016c0025t0021g0225	1	238	0.0042	25	c.142 others(44): Show c.142-11740_142-11739insTTTTTTTTTTTTTTTTTTTTTTTTT	FAM184B	ENSG00000047662.5	transcript	ENST00000265018.4	protein_coding	1/17			chr4	TogoVar
FAM186A_chr12_50322309_50401609	50394732	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	332	0.0030	25	c.192 others(42): Show c.192+1536_192+1560dupAAAAAAAAAAAAAAAAAAAAAAAAA	FAM186A	ENSG00000185958.10	transcript	ENST00000327337.6	protein_coding	1/7			chr12	TogoVar
FAM187A_chr17_44898433_44910390	44908334	C C	CCCAAGTC others(18): Show CCCAAGTCCTGGCTGCTCTGTCCAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00544.hp2 others(90): Show HG00140.hp1 HG00323.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01261.hp1 HG01358.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG02004.hp1 HG02055.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02273.hp2 HG02300.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02895.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03490.hp1 HG03516.hp1 HG03579.hp1 HG03710.hp2 HG03927.hp2 NA18940.hp1 NA18942.hp2 NA18946.hp2 NA18948.hp1 NA18955.hp1 NA18960.hp2 NA18967.hp1 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18980.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18995.hp2 NA19001.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19043.hp2 NA19064.hp2 NA19067.hp2 NA19068.hp1 NA19081.hp2 NA19084.hp1 NA19087.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0006 a0002c0011 others(3): Show a0002c0002 a0002c0006 a0002c0011 a0003c0003 a0003c0009 a0003c0010	a0002c0002t0002 a0002c0006t0002 a0002c0011t0002 others(4): Show a0002c0002t0002 a0002c0006t0002 a0002c0011t0002 a0003c0003t0002 a0003c0003t0009 a0003c0009t0002 a0003c0010t0002	a0002c0002t0002g0000 a0002c0006t0002g0000 a0002c0011t0002g0000 others(4): Show a0002c0002t0002g0000 a0002c0006t0002g0000 a0002c0011t0002g0000 a0003c0003t0002g0000 a0003c0003t0009g0000 a0003c0009t0002g0000 a0003c0010t0002g0000	93	428	0.2173	25	c.32 others(36): Show c.3263_*3264insCCAAGTCCTGGCTGCTCTGTCCAGT	FAM187A	ENSG00000214447.6	transcript	ENST00000331733.5	protein_coding		2945		chr17	TogoVar
FAM193A_chr4_2531647_2737573	2617262	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0322 a0004c0004t0001g0322	1	330	0.0030	25	c.502 others(42): Show c.502-7999_502-7998insATATATATATATATATATATTTTTT	FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM193A_chr4_2531647_2737573	2617262	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01358.hp1 NA18955.hp1 others(1): Show HG00438.hp1 HG01358.hp1 NA18955.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0151 a0001c0001t0001g0184 others(1): Show a0001c0001t0001g0142 a0001c0001t0001g0151 a0001c0001t0001g0184 a0001c0001t0001g0197	4	330	0.0121	25	c.502 others(42): Show c.502-7999_502-7998insATATATATATATATATTTTTTTTTT	FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM193A_chr4_2531647_2737573	2620836	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0117 a0001c0002t0013g0117	1	330	0.0030	25	c.502 others(42): Show c.502-4404_502-4403insAAAAAAAAAAAAAAAAAAAAAAAAA	FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM204A_chr10_118292925_118347324	118299391	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0129 a0001c0001t0062g0129	1	394	0.0025	25	c.11 others(38): Show c.11465_*11466insAAAAAAAAAAAAAAAAAAAAAAAAA	FAM204A	ENSG00000165669.14	transcript	ENST00000369183.9	protein_coding	9/9	11465		chr10	TogoVar
FAM20A_chr17_68530116_68606367	68581350	T T	TTTTCTTT others(18): Show TTTTCTTTCTTTCTTTCTTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	380	0.0026	25	c.404 others(44): Show c.404+18912_404+18913insGAAAGAAAAGAAAGAAAGAAAGAAA	FAM20A	ENSG00000108950.12	transcript	ENST00000592554.2	protein_coding	1/10			chr17	TogoVar
FAM222B_chr17_28750980_28847790	28778719	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0167 a0001c0002t0003g0167	1	276	0.0036	25	c.-40 others(44): Show c.-40-12013_-40-12012insATATATATATATATATATATATATA	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM222B_chr17_28750980_28847790	28778719	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0193 a0001c0002t0002g0193	1	276	0.0036	25	c.-40 others(44): Show c.-40-12013_-40-12012insAAAAAAAAAAATATATATATATATA	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar

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