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
THNSL1_chr10_25011612_25031664	25027356	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0006	1	412	0.0024	23	c.19 others(34): Show c.1901_*1902insAAAAAAAAAAAAAAAAAAAAAAA	THNSL1	ENSG00000185875.13	transcript	ENST00000376356.5	protein_coding		693		chr10	TogoVar
THNSL2_chr2_88165346_88191627	88181334	T T	TCTCTCTC others(16): Show TCTCTCTCTCCTCTCTCCTCTCTC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0001 a0001c0003t0003g0001	1	54	0.0185	23	c.803 others(40): Show c.803-1360_803-1359insTCTCCTCTCTCCTCTCTCCTCTC	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
THOP1_chr19_2780503_2820807	2817966	C C	CAGAGCAG others(16): Show CAGAGCAGGTGACAAGGGTGACTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG03195.hp1 HG01891.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0036 a0001c0001t0013g0036	2	370	0.0054	23	c.46 others(34): Show c.4690_*4691insAGAGCAGGTGACAAGGGTGACTA	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding		2160		chr19	TogoVar
THOP1_chr19_2780503_2820807	2820684	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00733.hp2 others(27): Show HG00280.hp2 HG00323.hp2 HG00733.hp2 HG01515.hp1 HG01975.hp1 HG02004.hp2 HG02015.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02630.hp1 HG02809.hp1 HG02965.hp1 HG03139.hp2 HG03490.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA18939.hp2 NA18946.hp1 NA18962.hp2 NA18971.hp1 NA19009.hp2 NA19057.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0015 a0001c0001t0016 a0004c0004t0002	a0001c0001t0001g0007 a0001c0001t0001g0154 a0001c0001t0001g0222 others(19): Show a0001c0001t0001g0007 a0001c0001t0001g0154 a0001c0001t0001g0222 a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0041 a0001c0001t0002g0054 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0005g0006 a0001c0001t0005g0047 a0001c0001t0005g0080 a0001c0001t0007g0017 a0001c0001t0015g0013 a0001c0001t0016g0021 a0004c0004t0002g0002 a0004c0004t0002g0223	30	370	0.0811	23	c.74 others(34): Show c.7408_*7409insTTTTTTTTTTTTTTTTTTTTTTT	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding		4878		chr19	TogoVar
THRAP3_chr1_36219443_36310357	36220972	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0010 a0003c0004t0002g0010	1	252	0.0040	23	c.-36 others(34): Show c.-3668_-3667insAAAAAAAAAATATATATATATAT	THRAP3	ENSG00000054118.15	transcript	ENST00000354618.10	protein_coding		3470		chr1	TogoVar
THRAP3_chr1_36219443_36310357	36253760	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02015.hp1 NA18974.hp1 others(4): Show HG00597.hp2 HG02015.hp1 NA18974.hp1 NA18980.hp1 NA18986.hp2 NA19084.hp2 NA19085.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0005 a0001c0006t0001 a0001c0006t0005	a0001c0006t0001g0191 a0001c0006t0001g0193 a0001c0006t0001g0198 others(4): Show a0001c0006t0001g0191 a0001c0006t0001g0193 a0001c0006t0001g0198 a0001c0006t0001g0200 a0001c0006t0001g0227 a0001c0006t0005g0190 a0001c0006t0005g0195	7	252	0.0278	23	c.-13 others(42): Show c.-134-5603_-134-5602insTTTTTTTTTTTTTTTTTTTTTTT	THRAP3	ENSG00000054118.15	transcript	ENST00000354618.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
THRAP3_chr1_36219443_36310357	36270571	G G	GGTTTTTT others(16): Show GGTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG03225.hp2 HG01069.hp1 HG03225.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0025 a0003c0004t0002g0031 a0003c0004t0002g0025 a0003c0004t0002g0031	2	252	0.0079	23	c.-32 others(42): Show c.-32+11087_-32+11088insGTTTTTTTTTTTTTTTTTTTTTT	THRAP3	ENSG00000054118.15	transcript	ENST00000354618.10	protein_coding	2/11			chr1	TogoVar
THRAP3_chr1_36219443_36310357	36295954	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	252	0.0040	23	c.211 others(40): Show c.2116-614_2116-592dupTTTTTTTTTTTTTTTTTTTTTTT	THRAP3	ENSG00000054118.15	transcript	ENST00000354618.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
THRB_chr3_24112153_24499850	24375363	T T	TTATATTT others(16): Show TTATATTTAGACATATAATATTAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0090 a0001c0002t0003g0090	1	178	0.0056	23	c.-26 others(44): Show c.-260-38015_-260-37993dupTTAATATTATATGTCTAAATATA	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	1/10			chr3	TogoVar
THRB_chr3_24112153_24499850	24477007	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0155 a0001c0002t0015g0155	1	178	0.0056	23	c.-26 others(44): Show c.-261+17644_-261+17645insAAAAAAAAAAAAAAAAAAAAAAA	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	1/10			chr3	TogoVar
THSD1_chr13_52372167_52411172	52375612	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 NA19080.hp2 HG00544.hp2 NA19080.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0186 a0002c0003t0003g0187 a0002c0003t0003g0186 a0002c0003t0003g0187	2	316	0.0063	23	c.17 others(34): Show c.1798_*1799insTTTTTTTTTTTTTTTTTTTTTTT	THSD1	ENSG00000136114.17	transcript	ENST00000258613.5	protein_coding		1554		chr13	TogoVar
THSD4_chr15_71110471_71788383	71172702	T T	TATATATA others(16): Show TATATATATATATATATATGTGAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0071 a0001c0003t0003g0071	1	116	0.0086	23	c.99+ others(40): Show c.99+17788_99+17789insGTGACATATATATATATATATAT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71299976	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0045 a0001c0002t0005g0045	1	116	0.0086	23	c.101 others(44): Show c.1015+43262_1015+43263insATATATATATATATATATATATA	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71326700	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0100 a0001c0004t0005g0100	1	116	0.0086	23	c.101 others(44): Show c.1015+69986_1015+69987insAAAAATATATATATATATATATA	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71326700	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0015 a0001c0009t0006g0015	1	116	0.0086	23	c.101 others(44): Show c.1015+69986_1015+69987insATATATATATATATATATATATA	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71332892	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03516.hp1 HG03540.hp2 others(1): Show HG01346.hp2 HG03516.hp1 HG03540.hp2 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0005 a0001c0002 a0001c0003 a0002c0005	a0001c0002t0002 a0001c0002t0009 a0001c0003t0004 others(1): Show a0001c0002t0002 a0001c0002t0009 a0001c0003t0004 a0002c0005t0004	a0001c0002t0002g0018 a0001c0002t0009g0091 a0001c0003t0004g0112 others(1): Show a0001c0002t0002g0018 a0001c0002t0009g0091 a0001c0003t0004g0112 a0002c0005t0004g0113	4	116	0.0345	23	c.101 others(44): Show c.1015+76193_1015+76194insTTTTTTTTTTTTTTTTTTTTTTT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD7A_chr7_11365365_11837198	11509821	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20805.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0009 a0001c0002 a0002c0009	a0001c0002t0034 a0002c0009t0003 a0001c0002t0034 a0002c0009t0003	a0001c0002t0034g0109 a0002c0009t0003g0036 a0001c0002t0034g0109 a0002c0009t0003g0036	2	180	0.0111	23	c.182 others(44): Show c.1823-27840_1823-27839insTTTTTTTTTTTTTTTTTTTTTTT	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	6/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11566965	T T	TAGCGGGG others(16): Show TAGCGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG02055.hp1 others(6): Show HG00408.hp1 HG00408.hp2 HG02055.hp1 HG02523.hp1 HG02630.hp1 HG02809.hp1 HG03579.hp1 HG03831.hp2 NA18959.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0012	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0044 a0002c0005 a0002c0061 a0006c0013 a0012c0072	a0001c0001t0001 a0001c0002t0006 a0001c0003t0013 others(6): Show a0001c0001t0001 a0001c0002t0006 a0001c0003t0013 a0001c0003t0056 a0001c0044t0019 a0002c0005t0001 a0002c0061t0018 a0006c0013t0004 a0012c0072t0023	a0001c0001t0001g0112 a0001c0002t0006g0058 a0001c0003t0013g0134 others(6): Show a0001c0001t0001g0112 a0001c0002t0006g0058 a0001c0003t0013g0134 a0001c0003t0056g0162 a0001c0044t0019g0030 a0002c0005t0001g0100 a0002c0061t0018g0169 a0006c0013t0004g0043 a0012c0072t0023g0002	9	180	0.0500	23	c.145 others(44): Show c.1453+23494_1453+23495insCCCCCCCCCCCCCCCCCCCCGCT	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	4/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11566965	T T	TAGCGGGG others(16): Show TAGCGGGGGGGGGGGGGGGTGGGC	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0004 a0004	a0004c0050 a0004c0050	a0004c0050t0005 a0004c0050t0005	a0004c0050t0005g0120 a0004c0050t0005g0120	1	180	0.0056	23	c.145 others(44): Show c.1453+23494_1453+23495insGCCCACCCCCCCCCCCCCCCGCT	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	4/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11769153	A A	ATATATAT others(16): Show ATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0132 a0001c0002t0053g0132	1	180	0.0056	23	c.190 others(42): Show c.190+62603_190+62604insAAAAAAAAAAAAAAATATATATA	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	1/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11769154	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0004 a0004	a0004c0049 a0004c0049	a0004c0049t0001 a0004c0049t0001	a0004c0049t0001g0106 a0004c0049t0001g0106	1	180	0.0056	23	c.190 others(42): Show c.190+62602_190+62603insTATATATATATATATATATATAT	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	1/27			chr7	TogoVar
THSD7B_chr2_136760545_137682718	136825718	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTGTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0009 a0003c0002t0009	a0003c0002t0009g0089 a0003c0002t0009g0089	1	98	0.0102	23	c.-35 others(42): Show c.-35-56411_-35-56410insGTTTTTTTTTTTTTTTTTTTTTT	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	136825718	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03041.hp1 HG04199.hp2 others(2): Show HG00609.hp1 HG03041.hp1 HG04199.hp2 NA18747.hp1 NA19084.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0004 a0001c0017 a0002c0052 others(2): Show a0001c0004 a0001c0017 a0002c0052 a0004c0007 a0004c0008	a0001c0004t0002 a0001c0017t0001 a0002c0052t0008 others(2): Show a0001c0004t0002 a0001c0017t0001 a0002c0052t0008 a0004c0007t0001 a0004c0008t0001	a0001c0004t0002g0039 a0001c0017t0001g0045 a0002c0052t0008g0042 others(2): Show a0001c0004t0002g0039 a0001c0017t0001g0045 a0002c0052t0008g0042 a0004c0007t0001g0044 a0004c0008t0001g0040	5	98	0.0510	23	c.-35 others(42): Show c.-35-56410_-35-56409insTTTTTTTTTTTTTTTTTTTTTTT	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	136906936	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0002 a0003c0014t0002	a0003c0014t0002g0001 a0003c0014t0002g0001	1	98	0.0102	23	c.139 others(42): Show c.139+24626_139+24648dupTTTTTTTTTTTTTTTTTTTTTTT	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
TIAM1_chr21_31113418_31349261	31185400	C C	CTATATAA others(16): Show CTATATAATTATATATAATTATGT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0002 a0001c0002t0005g0002	1	212	0.0047	23	c.266 others(42): Show c.2662+1578_2662+1600dupACATAATTATATATAATTATATA	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	14/27			chr21	TogoVar
TICAM2_chr5_115573496_115607479	115578195	A A	ATTTTTCT others(16): Show ATTTTTCTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0033 a0001c0001t0006g0033	1	402	0.0025	23	c.23 others(34): Show c.2353_*2354insAAAAAAAAAAAAAAAAAGAAAAA	TICAM2	ENSG00000243414.6	transcript	ENST00000427199.3	protein_coding		300		chr5	TogoVar
TICRR_chr15_89570469_89633023	89609100	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02630.hp2 HG03130.hp2 HG02451.hp1 HG02630.hp2 HG03130.hp2	a0003 a0007 a0003 a0007	a0003c0006 a0007c0008 a0003c0006 a0007c0008	a0003c0006t0001 a0007c0008t0005 a0003c0006t0001 a0007c0008t0005	a0003c0006t0001g0196 a0007c0008t0005g0012 a0003c0006t0001g0196 a0007c0008t0005g0012	3	344	0.0087	23	c.286 others(40): Show c.2869+157_2869+179dupTTTTTTTTTTTTTTTTTTTTTTT	TICRR	ENSG00000140534.14	transcript	ENST00000268138.12	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
TIGD2_chr4_89106533_89119901	89119071	T T	TTATATAT others(16): Show TTATATATGTAGTATATATGTAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(129): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01109.hp1 HG01123.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02080.hp1 HG02083.hp1 HG02135.hp2 HG02258.hp2 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02896.hp1 HG02976.hp2 HG03017.hp1 HG03471.hp2 HG03490.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04228.hp1 HG06807.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18956.hp2 NA18960.hp2 NA18963.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18990.hp1 NA18993.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19059.hp2 NA19060.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19090.hp2 NA19240.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0007 a0001c0002t0014 a0001c0002t0015 a0001c0008t0001	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0004g0001 others(5): Show a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0004g0001 a0001c0002t0001g0001 a0001c0002t0007g0001 a0001c0002t0014g0001 a0001c0002t0015g0001 a0001c0008t0001g0001	132	430	0.3070	23	c.45 others(34): Show c.4519_*4520insTATATATGTAGTATATATGTAAA	TIGD2	ENSG00000180346.5	transcript	ENST00000603357.3	protein_coding		4171		chr4	TogoVar
TIMELESS_chr12_56411363_56454426	56420029	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0074 a0001c0001t0011g0074	1	402	0.0025	23	c.322 others(40): Show c.3228+539_3228+540insATATATATATATATTTTTTTTTT	TIMELESS	ENSG00000111602.12	transcript	ENST00000553532.6	protein_coding	26/28			chr12	TogoVar
TIMM13_chr19_2420625_2432586	2424805	A A	AGGTGGTG others(16): Show AGGTGGTGACGGCTGCAGTTCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0016 a0001c0001t0014g0016	1	302	0.0033	23	c.21 others(34): Show c.2120_*2142dupCGGGAACTGCAGCCGTCACCACC	TIMM13	ENSG00000099800.8	transcript	ENST00000215570.8	protein_coding		819		chr19	TogoVar
TIMM9_chr14_58403495_58432531	58404119	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	378	0.0027	23	c.49 others(34): Show c.4914_*4915insAAAAATATATATATATATATATA	TIMM9	ENSG00000100575.14	transcript	ENST00000395159.7	protein_coding		4375		chr14	TogoVar
TIMM9_chr14_58403495_58432531	58404119	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG03471.hp2 HG03516.hp1 others(1): Show HG01123.hp1 HG03471.hp2 HG03516.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0002g0016 a0001c0001t0002g0056 others(1): Show a0001c0001t0001g0004 a0001c0001t0002g0016 a0001c0001t0002g0056 a0001c0001t0003g0269	4	378	0.0106	23	c.49 others(34): Show c.4914_*4915insAAAAAAATATATATATATATATA	TIMM9	ENSG00000100575.14	transcript	ENST00000395159.7	protein_coding		4375		chr14	TogoVar
TINAG_chr6_54303441_54395142	54360841	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02630.hp2 HG02257.hp1 HG02630.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0271 a0002c0002t0001g0270 a0001c0001t0001g0271 a0002c0002t0001g0270	2	374	0.0054	23	c.125 others(42): Show c.1250+6214_1250+6236dupTTTTTTTTTTTTTTTTTTTTTTT	TINAG	ENSG00000137251.16	transcript	ENST00000259782.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
TJP3_chr19_3703384_3755813	3737232	T T	TCTTGTTA others(16): Show TCTTGTTATCAATGTCACAATCTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG00733.hp1 others(7): Show HG00140.hp1 HG00642.hp2 HG00733.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01175.hp2 HG02055.hp1 HG03927.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0003 a0002c0001t0002 a0002c0001t0003	a0002c0001t0002g0141 a0002c0001t0002g0180 a0002c0001t0002g0226 others(7): Show a0002c0001t0002g0141 a0002c0001t0002g0180 a0002c0001t0002g0226 a0002c0001t0002g0228 a0002c0001t0002g0229 a0002c0001t0003g0009 a0002c0001t0003g0027 a0002c0001t0003g0053 a0002c0001t0003g0061 a0002c0001t0003g0062	10	398	0.0251	23	c.128 others(40): Show c.1284+928_1284+950dupCAATCTCCTTGTTATCAATGTCA	TJP3	ENSG00000105289.15	transcript	ENST00000541714.7	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
TK2_chr16_66503003_66555122	66505212	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0220 a0001c0001t0004g0220	1	300	0.0033	23	c.67 others(34): Show c.6755_*6756insATATATATATATATATATATATA	TK2	ENSG00000166548.17	transcript	ENST00000544898.6	protein_coding		2790		chr16	TogoVar
TK2_chr16_66503003_66555122	66505213	T T	TATATATA others(16): Show TATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG03041.hp2 NA18994.hp2 HG02622.hp2 HG03041.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0016 a0001c0001t0005 a0001c0001t0009 a0001c0001t0016	a0001c0001t0005g0049 a0001c0001t0009g0214 a0001c0001t0016g0038 a0001c0001t0005g0049 a0001c0001t0009g0214 a0001c0001t0016g0038	3	300	0.0100	23	c.67 others(34): Show c.6754_*6755insTATATATATATATATATATATAT	TK2	ENSG00000166548.17	transcript	ENST00000544898.6	protein_coding		2789		chr16	TogoVar
TLE1_chr9_81578683_81694547	81675698	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02572.hp2 HG03688.hp2 others(1): Show HG00735.hp1 HG02572.hp2 HG03688.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0012 a0001c0001 a0001c0011 a0001c0012	a0001c0001t0001 a0001c0001t0004 a0001c0011t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0011t0001 a0001c0012t0001	a0001c0001t0001g0203 a0001c0001t0004g0010 a0001c0011t0001g0229 others(1): Show a0001c0001t0001g0203 a0001c0001t0004g0010 a0001c0011t0001g0229 a0001c0012t0001g0230	4	356	0.0112	23	c.234 others(40): Show c.234+9977_234+9978insAAAAAAAAAAAAAAAAAAAAAAA	TLE1	ENSG00000196781.16	transcript	ENST00000376499.8	protein_coding	4/19			chr9	TogoVar
TLK1_chr2_170985823_171165893	170986505	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	266	0.0038	23	c.72 others(34): Show c.7274_*7275insATATATATATATATATATATATA	TLK1	ENSG00000198586.14	transcript	ENST00000431350.7	protein_coding		4317		chr2	TogoVar
TLK1_chr2_170985823_171165893	170986507	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA19070.hp2 NA18975.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0014 a0001c0003t0003 a0001c0001t0014 a0001c0003t0003	a0001c0001t0014g0008 a0001c0003t0003g0233 a0001c0001t0014g0008 a0001c0003t0003g0233	2	266	0.0075	23	c.72 others(34): Show c.7272_*7273insATATATATATATATATATATATA	TLK1	ENSG00000198586.14	transcript	ENST00000431350.7	protein_coding		4315		chr2	TogoVar
TLK1_chr2_170985823_171165893	170986509	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 NA18955.hp1 NA18955.hp2 others(2): Show HG00408.hp2 NA18955.hp1 NA18955.hp2 NA19058.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0192 a0001c0003t0003g0223 a0001c0003t0003g0224 others(2): Show a0001c0001t0001g0192 a0001c0003t0003g0223 a0001c0003t0003g0224 a0001c0003t0003g0226 a0001c0003t0003g0235	5	266	0.0188	23	c.72 others(34): Show c.7270_*7271insATATATATATATATATATATATA	TLK1	ENSG00000198586.14	transcript	ENST00000431350.7	protein_coding		4313		chr2	TogoVar
TLK1_chr2_170985823_171165893	170986511	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0038 a0001c0003t0038	a0001c0003t0038g0072 a0001c0003t0038g0072	1	266	0.0038	23	c.72 others(34): Show c.7268_*7269insATATATATATATATATATATATA	TLK1	ENSG00000198586.14	transcript	ENST00000431350.7	protein_coding		4311		chr2	TogoVar
TLK2_chr17_62473825_62620481	62505407	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03098.hp1 NA18906.hp2 HG01243.hp1 HG03098.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0026 a0001c0001t0001 a0001c0001t0016 a0001c0001t0026	a0001c0001t0001g0189 a0001c0001t0016g0185 a0001c0001t0026g0278 a0001c0001t0001g0189 a0001c0001t0016g0185 a0001c0001t0026g0278	3	292	0.0103	23	c.82- others(40): Show c.82-15362_82-15340dupTTTTTTTTTTTTTTTTTTTTTTT	TLK2	ENSG00000146872.19	transcript	ENST00000346027.10	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
TLK2_chr17_62473825_62620481	62540400	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01261.hp1 HG02074.hp1 others(5): Show HG01168.hp1 HG01261.hp1 HG02074.hp1 HG02083.hp2 HG02723.hp2 HG02922.hp1 HG03492.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0013 a0001c0002t0002g0019 a0001c0002t0002g0032 others(5): Show a0001c0002t0002g0013 a0001c0002t0002g0019 a0001c0002t0002g0032 a0001c0002t0002g0097 a0001c0002t0002g0112 a0001c0002t0002g0128 a0001c0002t0003g0064 a0001c0002t0003g0157	8	292	0.0274	23	c.531 others(40): Show c.531+4064_531+4086dupTTTTTTTTTTTTTTTTTTTTTTT	TLK2	ENSG00000146872.19	transcript	ENST00000346027.10	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
TLK2_chr17_62473825_62620481	62546344	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA18948.hp1 NA19000.hp2 HG00738.hp2 NA18948.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0002 a0001c0002t0007 a0001c0001t0012 a0001c0002t0002 a0001c0002t0007	a0001c0001t0012g0149 a0001c0002t0002g0003 a0001c0002t0007g0036 a0001c0001t0012g0149 a0001c0002t0002g0003 a0001c0002t0007g0036	3	292	0.0103	23	c.532 others(40): Show c.532-5942_532-5941insTTTTTTTTTTTTTTTTTTTTTTT	TLK2	ENSG00000146872.19	transcript	ENST00000346027.10	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
TLL2_chr10_96359608_96518926	96476240	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	256	0.0039	23	c.286 others(40): Show c.286+4108_286+4109insAAAAAAATATATATATATATATA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	2/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96476240	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	256	0.0039	23	c.286 others(40): Show c.286+4108_286+4109insAAAAAAAAAAATATATATATATA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	2/20			chr10	TogoVar
TLN2_chr15_62385550_62849631	62414161	A A	AACAATAT others(16): Show AACAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0057 a0001c0007t0002g0057	1	144	0.0069	23	c.-23 others(44): Show c.-238+23477_-238+23478insCAATATATATATATATATATATA	TLN2	ENSG00000171914.17	transcript	ENST00000636159.2	protein_coding	1/58		INFO_REALIGN_3_PRIME	chr15	TogoVar
TLN2_chr15_62385550_62849631	62582246	A A	ACACACAC others(16): Show ACACACACACACACACACACACCC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0007 a0001c0003t0001g0007	1	144	0.0069	23	c.-23 others(42): Show c.-237-7439_-237-7438insCACACACACACACACACACCCCA	TLN2	ENSG00000171914.17	transcript	ENST00000636159.2	protein_coding	1/58		INFO_REALIGN_3_PRIME	chr15	TogoVar
TLN2_chr15_62385550_62849631	62664857	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0004 a0001c0002t0025g0004	1	144	0.0069	23	c.788 others(40): Show c.788+6980_788+6981insAAAAAAAAAAAAAAAAAAAAAAA	TLN2	ENSG00000171914.17	transcript	ENST00000636159.2	protein_coding	9/58		INFO_REALIGN_3_PRIME	chr15	TogoVar
TLN2_chr15_62385550_62849631	62744923	T T	TCCTCCTT others(16): Show TCCTCCTTTCCCAGGCGCCTCTTC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01884.hp2 HG02451.hp2 HG01192.hp2 HG01884.hp2 HG02451.hp2	a0002 a0002	a0002c0014 a0002c0025 a0002c0065 a0002c0014 a0002c0025 a0002c0065	a0002c0014t0026 a0002c0025t0019 a0002c0065t0021 a0002c0014t0026 a0002c0025t0019 a0002c0065t0021	a0002c0014t0026g0010 a0002c0025t0019g0039 a0002c0065t0021g0113 a0002c0014t0026g0010 a0002c0025t0019g0039 a0002c0065t0021g0113	3	144	0.0208	23	c.402 others(42): Show c.4026-3424_4026-3402dupCCTTTCCCAGGCGCCTCTTCCCT	TLN2	ENSG00000171914.17	transcript	ENST00000636159.2	protein_coding	32/58		INFO_REALIGN_3_PRIME	chr15	TogoVar

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