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
F10_chr13_113117799_113154529	113148343	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0376 a0001c0002t0001g0376	1	412	0.0024	23	c.866 others(38): Show c.866-573_866-572insTATATATATATATATATATATAT	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding	7/7			chr13	TogoVar
F5_chr1_169506951_169591481	169556425	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02723.hp2 HG03471.hp2 others(1): Show HG02486.hp2 HG02723.hp2 HG03471.hp2 HG03486.hp2	a0004 a0010 a0014 others(1): Show a0004 a0010 a0014 a0043	a0004c0040 a0010c0012 a0014c0031 others(1): Show a0004c0040 a0010c0012 a0014c0031 a0043c0044	a0004c0040t0002 a0010c0012t0002 a0014c0031t0001 others(1): Show a0004c0040t0002 a0010c0012t0002 a0014c0031t0001 a0043c0044t0001	a0004c0040t0002g0301 a0010c0012t0002g0050 a0014c0031t0001g0052 others(1): Show a0004c0040t0002g0301 a0010c0012t0002g0050 a0014c0031t0001g0052 a0043c0044t0001g0007	4	306	0.0131	23	c.952 others(38): Show c.952+220_952+221insTTTTTTTTTTTTTTTTTTTTTTT	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F7_chr13_113100791_113125685	113105040	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0242 a0001c0001t0016g0242	1	400	0.0025	23	c.-80 others(32): Show c.-802_-801insAAAATATATATATATATATATAT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		750		chr13	TogoVar
F8A2_chrX_155377095_155388801	155384120	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	267	0.0038	23	c.89 others(32): Show c.890_*891insTTTTTTTTTTTTTTTTTTTTTTT	F8A2	ENSG00000288709.1	transcript	ENST00000369505.5	protein_coding		320		chrX	TogoVar
FA2H_chr16_74707969_74779820	74715812	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG06807.hp2 HG02896.hp2 HG02897.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0009 a0001c0004 a0002c0009	a0001c0004t0001 a0002c0009t0001 a0001c0004t0001 a0002c0009t0001	a0001c0004t0001g0300 a0002c0009t0001g0213 a0002c0009t0001g0215 a0001c0004t0001g0300 a0002c0009t0001g0213 a0002c0009t0001g0215	3	388	0.0077	23	c.103 others(40): Show c.1039+534_1039+535insAAAAAAAAAAAAAAAAAAAAAAA	FA2H	ENSG00000103089.9	transcript	ENST00000219368.8	protein_coding	6/6			chr16	TogoVar
FAAH2_chrX_57281706_57494193	57347604	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02886.hp2 HG02257.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0271 a0001c0001t0001g0266 a0001c0001t0001g0271	2	282	0.0071	23	c.742 others(40): Show c.742+6225_742+6247dupTTTTTTTTTTTTTTTTTTTTTTT	FAAH2	ENSG00000165591.7	transcript	ENST00000374900.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
FAAP100_chr17_81534891_81557353	81542234	T T	TATATATA others(16): Show TATATATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0204 a0003c0003t0003g0204	1	436	0.0023	23	c.242 others(40): Show c.2428-840_2428-839insTTTATATATATATATATATATAT	FAAP100	ENSG00000185504.17	transcript	ENST00000327787.13	protein_coding	7/8			chr17	TogoVar
FADS2_chr11_61823300_61872354	61824085	A A	AGAAATCA others(16): Show AGAAATCACTATCTCCGCTGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	280	0.0036	23	c.-43 others(34): Show c.-4306_-4305insGAAATCACTATCTCCGCTGGGTG	FADS2	ENSG00000134824.14	transcript	ENST00000278840.9	protein_coding		4214		chr11	TogoVar
FADS2_chr11_61823300_61872354	61824502	G G	GAAAGAAA others(16): Show GAAAGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02135.hp2 HG02895.hp2 others(2): Show HG02004.hp1 HG02135.hp2 HG02895.hp2 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0001 a0001c0001t0005 a0001c0001t0010	a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0072 others(2): Show a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0072 a0001c0001t0005g0008 a0001c0001t0010g0157	5	280	0.0179	23	c.-38 others(34): Show c.-3889_-3888insAAAGAAAGAAAGAAAGAAAGAAA	FADS2	ENSG00000134824.14	transcript	ENST00000278840.9	protein_coding		3797		chr11	TogoVar
FADS2_chr11_61823300_61872354	61861353	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	280	0.0036	23	c.883 others(40): Show c.883-1601_883-1600insAAAAAAAAAAAAAAAAAAAAAAA	FADS2	ENSG00000134824.14	transcript	ENST00000278840.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAHD1_chr16_1822206_1833910	1830944	A A	ACACACAC others(16): Show ACACACACACACACCCCACCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01109.hp2 HG01123.hp1 others(32): Show HG00423.hp2 HG01109.hp2 HG01123.hp1 HG01256.hp2 HG01346.hp2 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02056.hp1 HG02145.hp2 HG02165.hp2 HG02293.hp2 HG02735.hp1 HG04204.hp2 NA18947.hp1 NA18948.hp2 NA18952.hp2 NA18954.hp1 NA18969.hp1 NA18974.hp1 NA18975.hp1 NA18979.hp1 NA18983.hp2 NA18985.hp1 NA18991.hp1 NA19011.hp2 NA19055.hp1 NA19065.hp1 NA19077.hp1 NA19081.hp1 NA19083.hp2 NA19088.hp2 NA19090.hp2	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0002 a0002c0003t0008 a0002c0003t0015 others(2): Show a0002c0003t0002 a0002c0003t0008 a0002c0003t0015 a0002c0005t0002 a0002c0005t0008	a0002c0003t0002g0000 a0002c0003t0008g0000 a0002c0003t0015g0000 others(2): Show a0002c0003t0002g0000 a0002c0003t0008g0000 a0002c0003t0015g0000 a0002c0005t0002g0000 a0002c0005t0008g0000	35	448	0.0781	23	c.30 others(34): Show c.3040_*3041insCACACACACACACCCCACCCACC	FAHD1	ENSG00000180185.13	transcript	ENST00000427358.5	protein_coding		2035		chr16	TogoVar
FAHD1_chr16_1822206_1833910	1830944	A A	ACACACAC others(16): Show ACACACACACACCCCCCACCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0000 a0002c0003t0002g0000	1	448	0.0022	23	c.30 others(34): Show c.3040_*3041insCACACACACACCCCCCACCCACC	FAHD1	ENSG00000180185.13	transcript	ENST00000427358.5	protein_coding		2035		chr16	TogoVar
FAM107B_chr10_14513557_14779897	14628112	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02155.hp2 NA18612.hp2 others(1): Show HG00738.hp2 HG02155.hp2 NA18612.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0002c0002t0001	a0001c0001t0002g0106 a0001c0001t0003g0140 a0001c0001t0006g0130 others(1): Show a0001c0001t0002g0106 a0001c0001t0003g0140 a0001c0001t0006g0130 a0002c0002t0001g0244	4	272	0.0147	23	c.469 others(42): Show c.469+39521_469+39522insAAAAAAAAAAAAAAAAAAAAAAA	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	2/4			chr10	TogoVar
FAM107B_chr10_14513557_14779897	14737766	T T	TCTCTCTC others(16): Show TCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	272	0.0037	23	c.411 others(42): Show c.411+36486_411+36487insGAGAGAGAGAGAGAGAGAGAGAG	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	1/4			chr10	TogoVar
FAM110B_chr8_57989523_58153784	58075271	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	300	0.0033	23	c.-41 others(40): Show c.-413-264_-413-263insGTGTGTGTGTGTGTGTGTGTGTG	FAM110B	ENSG00000169122.12	transcript	ENST00000519262.6	protein_coding	2/3			chr8	TogoVar
FAM110B_chr8_57989523_58153784	58075271	T T	TTGGTGTG others(16): Show TTGGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02257.hp1 others(9): Show HG01884.hp1 HG01891.hp1 HG02257.hp1 HG02451.hp2 HG02622.hp2 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0027	a0001c0001t0002g0146 a0001c0001t0002g0152 a0001c0001t0003g0005 others(9): Show a0001c0001t0002g0146 a0001c0001t0002g0152 a0001c0001t0003g0005 a0001c0001t0003g0231 a0001c0001t0003g0250 a0001c0001t0008g0127 a0001c0001t0010g0072 a0001c0001t0010g0160 a0001c0001t0010g0175 a0001c0001t0012g0148 a0001c0001t0012g0150 a0001c0001t0027g0137	12	300	0.0400	23	c.-41 others(40): Show c.-413-263_-413-262insGGTGTGTGTGTGTGTGTGTGTGT	FAM110B	ENSG00000169122.12	transcript	ENST00000519262.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
FAM114A1_chr4_38862806_38950739	38880177	A A	ATAGAATA others(16): Show ATAGAATAGAATAGAATAGAATAG	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp2 NA18973.hp1 NA18973.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0319 a0001c0002t0001g0152 a0001c0002t0001g0319	2	372	0.0054	23	c.348 others(40): Show c.348+1751_348+1752insTAGAATAGAATAGAATAGAATAG	FAM114A1	ENSG00000197712.12	transcript	ENST00000358869.5	protein_coding	3/14			chr4	TogoVar
FAM118B_chr11_126206782_126267968	126214490	G G	GTTTTGTT others(16): Show GTTTTGTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0336	1	346	0.0029	23	c.-77 others(40): Show c.-77+2664_-77+2665insGTTTTTTTTTTTTTTTTTTTTTT	FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAM13A_chr4_88720960_89062185	88760603	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0103 a0001c0005t0009g0103	1	208	0.0048	23	c.157 others(42): Show c.1579-1725_1579-1703dupTTTTTTTTTTTTTTTTTTTTTTT	FAM13A	ENSG00000138640.15	transcript	ENST00000264344.10	protein_coding	13/23			chr4	TogoVar
FAM13A_chr4_88720960_89062185	89061609	T T	TTTTTTTT others(16): Show TTTTTTTTTTTTTTTTTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA19240.hp2 NA18946.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0010 a0001c0001t0001 a0002c0004t0010	a0001c0001t0001g0095 a0002c0004t0010g0158 a0001c0001t0001g0095 a0002c0004t0010g0158	2	208	0.0096	23	c.-46 others(34): Show c.-4646_-4645insCAAAAAAAAAAAAAAAAAAAAAA	FAM13A	ENSG00000138640.15	transcript	ENST00000264344.10	protein_coding		4425		chr4	TogoVar
FAM163A_chr1_179738291_179821198	179783744	A A	ATATTATA others(16): Show ATATTATATATATATTATATAATT	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18981.hp1 HG02257.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0132 a0001c0002t0003g0213 a0001c0001t0001g0132 a0001c0002t0003g0213	2	226	0.0089	23	c.-13 others(44): Show c.-135-24021_-135-23999dupTATATTATATAATTTATTATATA	FAM163A	ENSG00000143340.7	transcript	ENST00000341785.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
FAM167A_chr8_11416476_11471753	11457058	T T	TGGGGCTG others(16): Show TGGGGCTGGGTTGGGGAAGTGGGC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01109.hp2 HG01099.hp1 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0073 a0001c0001t0039g0074 a0001c0001t0039g0073 a0001c0001t0039g0074	2	374	0.0054	23	c.-39 others(42): Show c.-398+9545_-398+9567dupGCCCACTTCCCCAACCCAGCCCC	FAM167A	ENSG00000154319.16	transcript	ENST00000284486.9	protein_coding	1/2			chr8	TogoVar
FAM167A_chr8_11416476_11471753	11457071	G G	GGGGTATG others(16): Show GGGGTATGGGCGGGGCTGGGTTAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG06807.hp2 HG02723.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0044 a0001c0001t0025 a0001c0001t0044	a0001c0001t0025g0118 a0001c0001t0044g0117 a0001c0001t0025g0118 a0001c0001t0044g0117	2	374	0.0054	23	c.-39 others(42): Show c.-398+9554_-398+9555insTTAACCCAGCCCCGCCCATACCC	FAM167A	ENSG00000154319.16	transcript	ENST00000284486.9	protein_coding	1/2			chr8	TogoVar
FAM167B_chr1_32242222_32253856	32243103	T T	TTTATTTA others(16): Show TTTATTTATTTATTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00597.hp1 others(53): Show HG00280.hp2 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG01109.hp1 HG01168.hp1 HG01261.hp1 HG01433.hp2 HG01928.hp2 HG01943.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02074.hp1 HG02129.hp1 HG02148.hp2 HG02280.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02976.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp1 NA18612.hp2 NA18939.hp1 NA18946.hp1 NA18947.hp1 NA18953.hp2 NA18955.hp1 NA18961.hp1 NA18967.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA18988.hp2 NA18989.hp1 NA18993.hp2 NA19010.hp1 NA19011.hp2 NA19054.hp2 NA19074.hp1 NA19078.hp1 NA19084.hp2 NA19087.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0001 a0001c0002t0001g0001 a0001c0002t0003g0001 a0001c0001t0001g0001 a0001c0002t0001g0001 a0001c0002t0003g0001	56	378	0.1482	23	c.-43 others(34): Show c.-4319_-4318insTTATTTATTTATTTATTTATTTA	FAM167B	ENSG00000183615.6	transcript	ENST00000373582.4	protein_coding		4118		chr1	TogoVar
FAM168B_chr2_131042876_131098460	131087063	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	260	0.0039	23	c.-11 others(40): Show c.-11-4407_-11-4406insTTTTTTTTTTTTTTTTTTTTTTT	FAM168B	ENSG00000152102.18	transcript	ENST00000389915.4	protein_coding	1/6			chr2	TogoVar
FAM171A1_chr10_15206643_15376289	15369199	T T	TTATATAT others(16): Show TTATATATATATTGAATATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01884.hp2 HG02630.hp2 others(3): Show HG01169.hp1 HG01884.hp2 HG02630.hp2 HG02723.hp2 HG03139.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 others(3): Show a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0005g0123 a0001c0001t0005g0129	6	303	0.0198	23	c.97+ others(38): Show c.97+1734_97+1756dupTATATATATTCAATATATATATA	FAM171A1	ENSG00000148468.17	transcript	ENST00000378116.9	protein_coding	1/7			chr10	TogoVar
FAM171A2_chr17_44348215_44368853	44368146	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	23	c.-44 others(34): Show c.-4433_-4432insAAATATATATATATATATATATA	FAM171A2	ENSG00000161682.15	transcript	ENST00000293443.12	protein_coding		4294		chr17	TogoVar
FAM171A2_chr17_44348215_44368853	44368146	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	23	c.-44 others(34): Show c.-4433_-4432insAAAAAAATATATATATATATATA	FAM171A2	ENSG00000161682.15	transcript	ENST00000293443.12	protein_coding		4294		chr17	TogoVar
FAM171A2_chr17_44348215_44368853	44368146	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	416	0.0024	23	c.-44 others(34): Show c.-4433_-4432insAAAAAAAAATATATATATATATA	FAM171A2	ENSG00000161682.15	transcript	ENST00000293443.12	protein_coding		4294		chr17	TogoVar
FAM174B_chr15_92612448_92660775	92630765	T T	TTTTTTAT others(16): Show TTTTTTATATTATATAATAATATA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01978.hp1 HG01928.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0095 a0001c0001t0001g0099	2	394	0.0051	23	c.345 others(38): Show c.345-421_345-420insTATATTATTATATAATATAAAAA	FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2			chr15	TogoVar
FAM174B_chr15_92612448_92660775	92630836	T T	TATATATT others(16): Show TATATATTACATATTACATGTTAC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0306 a0001c0001t0008g0306	1	394	0.0025	23	c.345 others(38): Show c.345-514_345-492dupGTAACATGTAATATGTAATATAT	FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2			chr15	TogoVar
FAM174B_chr15_92612448_92660775	92631149	T T	TATATATT others(16): Show TATATATTACGTATTACATATTAC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	394	0.0025	23	c.345 others(38): Show c.345-805_345-804insGTAATATGTAATACGTAATATAT	FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2			chr15	TogoVar
FAM178B_chr2_96870885_96991580	96920780	T T	TAGGCAGA others(16): Show TAGGCAGAAAAGAAAACAGAAGGA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0114 a0001c0003t0001g0114	1	250	0.0040	23	c.156 others(40): Show c.1562+362_1562+384dupTCCTTCTGTTTTCTTTTCTGCCT	FAM178B	ENSG00000168754.15	transcript	ENST00000490605.3	protein_coding	12/16			chr2	TogoVar
FAM181A_chr14_93922344_93934608	93927060	A A	ACACACAC others(16): Show ACACACACACACACACACACACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	439	0.0023	23	c.-48 others(32): Show c.-482_-481insCACACACACACACACACACACCC	FAM181A	ENSG00000140067.7	transcript	ENST00000556222.2	protein_coding		283		chr14	TogoVar
FAM181B_chr11_82724940_82738864	82728871	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG06807.hp2 NA18942.hp1 HG02083.hp2 HG06807.hp2 NA18942.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0000 a0003c0005t0001g0000	3	426	0.0070	23	c.35 others(34): Show c.3577_*3578insTTTTTTTTTTTTTTTTTTTTTTT	FAM181B	ENSG00000182103.5	transcript	ENST00000329203.5	protein_coding		1068		chr11	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01071.hp1 NA18947.hp2 others(2): Show HG00408.hp2 HG01071.hp1 NA18947.hp2 NA19000.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0177 a0001c0001t0001g0181 others(2): Show a0001c0001t0001g0144 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0276	5	286	0.0175	23	c.291 others(42): Show c.2916-3057_2916-3056insAAAAATATATATATATATATATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	286	0.0035	23	c.291 others(42): Show c.2916-3057_2916-3056insAAAAAAATATATATATATATATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184B_chr4_17624306_17786621	17641461	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0014 a0001c0005t0014	a0001c0005t0014g0118 a0001c0005t0014g0118	1	238	0.0042	23	c.251 others(40): Show c.2519+572_2519+594dupAAAAAAAAAAAAAAAAAAAAAAA	FAM184B	ENSG00000047662.5	transcript	ENST00000265018.4	protein_coding	13/17			chr4	TogoVar
FAM184B_chr4_17624306_17786621	17641643	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0154 a0002c0001t0001g0154	1	238	0.0042	23	c.251 others(40): Show c.2519+390_2519+412dupAAAAAAAAAAAAAAAAAAAAAAA	FAM184B	ENSG00000047662.5	transcript	ENST00000265018.4	protein_coding	13/17			chr4	TogoVar
FAM184B_chr4_17624306_17786621	17721383	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0015 a0015	a0015c0062 a0015c0062	a0015c0062t0035 a0015c0062t0035	a0015c0062t0035g0230 a0015c0062t0035g0230	1	238	0.0042	23	c.142 others(42): Show c.142-11762_142-11740dupTTTTTTTTTTTTTTTTTTTTTTT	FAM184B	ENSG00000047662.5	transcript	ENST00000265018.4	protein_coding	1/17			chr4	TogoVar
FAM186A_chr12_50322309_50401609	50346215	G G	GAGAGAGA others(16): Show GAGAGAGAGAAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0240 a0002c0002t0001g0240	1	332	0.0030	23	c.650 others(42): Show c.6503+4113_6503+4114insTTCTTTCTTTCTCTTCTCTCTCT	FAM186A	ENSG00000185958.10	transcript	ENST00000327337.6	protein_coding	4/7			chr12	TogoVar
FAM186A_chr12_50322309_50401609	50393349	C C	CCAACATG others(16): Show CCAACATGGTGAAACCTTCACCTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03486.hp1 HG02258.hp1 HG03486.hp1	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0001 a0010c0019t0001	a0010c0019t0001g0322 a0010c0019t0001g0323 a0010c0019t0001g0322 a0010c0019t0001g0323	2	332	0.0060	23	c.192 others(40): Show c.192+2943_192+2944insAAGGTGAAGGTTTCACCATGTTG	FAM186A	ENSG00000185958.10	transcript	ENST00000327337.6	protein_coding	1/7			chr12	TogoVar
FAM193A_chr4_2531647_2737573	2617262	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	330	0.0030	23	c.502 others(40): Show c.502-7999_502-7998insATATATATATATATATTTTTTTT	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(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19062.hp1 NA19030.hp1 NA19062.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0006c0008t0001 a0001c0001t0001 a0006c0008t0001	a0001c0001t0001g0159 a0006c0008t0001g0132 a0001c0001t0001g0159 a0006c0008t0001g0132	2	330	0.0061	23	c.502 others(40): Show c.502-7999_502-7998insATATATATATATATTTTTTTTTT	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(16): Show ATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	330	0.0030	23	c.502 others(40): Show c.502-7999_502-7998insATATATATATATTTTTTTTTTTT	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(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0113 a0001c0002t0001g0113	1	330	0.0030	23	c.502 others(40): Show c.502-4404_502-4403insAAAAAAAAAAAAAAAAAAAAAAA	FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM193B_chr5_177514789_177559563	177554489	A A	ACGCCGCG others(16): Show ACGCCGCGCCGCCGCCGCCGCCGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG02129.hp1 others(7): Show HG00438.hp2 HG00558.hp2 HG02129.hp1 HG02572.hp1 HG02818.hp1 HG02970.hp1 HG04199.hp2 NA18971.hp1 NA18977.hp1 NA18979.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0015 a0001c0001t0035 a0001c0001t0036 others(1): Show a0001c0001t0015 a0001c0001t0035 a0001c0001t0036 a0004c0004t0015	a0001c0001t0015g0232 a0001c0001t0015g0233 a0001c0001t0015g0235 others(7): Show a0001c0001t0015g0232 a0001c0001t0015g0233 a0001c0001t0015g0235 a0001c0001t0015g0236 a0001c0001t0015g0237 a0001c0001t0035g0230 a0001c0001t0035g0234 a0001c0001t0036g0229 a0001c0001t0036g0231 a0004c0004t0015g0228	10	370	0.0270	23	c.-32 others(30): Show c.-32_-31insGCGGCGGCGGCGGCGGCGCGGCG	FAM193B	ENSG00000146067.17	transcript	ENST00000514747.6	protein_coding	1/9	32		chr5	TogoVar
FAM200C_chr5_160388148_160405054	160403259	A A	ATCTTGGA others(16): Show ATCTTGGATGGTCTTCTGACTAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	440	0.0023	23	c.-36 others(34): Show c.-3693_-3671dupACTAGTCAGAAGACCATCCAAGA	FAM200C	ENSG00000221886.4	transcript	ENST00000408953.4	protein_coding		3206		chr5	TogoVar
FAM204A_chr10_118292925_118347324	118299391	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0126 a0001c0001t0063g0126	1	394	0.0025	23	c.11 others(36): Show c.11465_*11466insAAAAAAAAAAAAAAAAAAAAAAA	FAM204A	ENSG00000165669.14	transcript	ENST00000369183.9	protein_coding	9/9	11465		chr10	TogoVar
FAM20A_chr17_68530116_68606367	68575506	T T	TTATATAT others(16): Show TTATATATTTTATATATTATATAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01943.hp2 HG01346.hp2 HG01943.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0269 a0002c0002t0001g0295 a0001c0001t0001g0269 a0002c0002t0001g0295	2	380	0.0053	23	c.405 others(42): Show c.405-19786_405-19764dupTTATATAATATATAAAATATATA	FAM20A	ENSG00000108950.12	transcript	ENST00000592554.2	protein_coding	1/10			chr17	TogoVar

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