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
TGM2_chr20_38122385_38170270	38149678	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18906.hp2 HG02630.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0100 a0001c0002t0002g0147 a0001c0002t0002g0100 a0001c0002t0002g0147	2	360	0.0056	35	c.552 others(52): Show c.552+1260_552+1261insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding	4/12			chr20	TogoVar
TGM3_chr20_2291001_2346079	2317922	C C	CATATATA others(28): Show CATATATATATATATATCATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0273 a0004c0004t0001g0273	1	360	0.0028	35	c.983 others(50): Show c.983+453_983+454insCATATATATATATATATATATATATATATA TATAT	TGM3	ENSG00000125780.12	transcript	ENST00000381458.6	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
TGS1_chr8_55768446_55831445	55769018	T T	TTAAAAAA others(28): Show TTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	370	0.0027	35	c.-46 others(46): Show c.-4601_-4600insTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	TGS1	ENSG00000137574.11	transcript	ENST00000260129.6	protein_coding		4427		chr8	TogoVar
THADA_chr2_43225851_43601038	43515233	A A	ATAATATA others(28): Show ATAATATATAATATATTATATATAATATATAATATG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	206	0.0049	35	c.337 others(54): Show c.3375-6454_3375-6453insCATATTATATATTATATATAATATAT TATATATTA	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	22/37			chr2	TogoVar
THEMIS_chr6_127703200_127906058	127731864	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0184 a0002c0001t0001g0184	1	223	0.0045	35	c.175 others(56): Show c.1759-12042_1759-12041insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	THEMIS	ENSG00000172673.12	transcript	ENST00000368248.5	protein_coding	4/5			chr6	TogoVar
THEMIS_chr6_127703200_127906058	127785104	A A	ATCTACCT others(28): Show ATCTACCTACCTAATCTATTATCTACCTACCTATTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp1 HG02280.hp2 others(2): Show HG02109.hp2 HG02280.hp1 HG02280.hp2 HG02976.hp2 HG03516.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0011 a0001c0002 a0004c0011	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 others(1): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0004c0011t0001	a0001c0002t0001g0187 a0001c0002t0003g0138 a0001c0002t0003g0186 others(2): Show a0001c0002t0001g0187 a0001c0002t0003g0138 a0001c0002t0003g0186 a0001c0002t0004g0188 a0004c0011t0001g0181	5	223	0.0224	35	c.175 others(56): Show c.1758+27744_1758+27778dupCAATAGGTAGGTAGATAATAGATT AGGTAGGTAGA	THEMIS	ENSG00000172673.12	transcript	ENST00000368248.5	protein_coding	4/5			chr6	TogoVar
THEMIS_chr6_127703200_127906058	127862428	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0084 a0001c0003t0001g0084	1	223	0.0045	35	c.92- others(50): Show c.92-7241_92-7240insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	THEMIS	ENSG00000172673.12	transcript	ENST00000368248.5	protein_coding	1/5			chr6	TogoVar
THNSL2_chr2_88165346_88191627	88170414	T T	TCGCGCAC others(28): Show TCGCGCACCGGGCCTCGCGCCCCGCGCCCCGCGCCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0007 a0004c0004t0007	a0004c0004t0007g0014 a0004c0004t0007g0014	1	54	0.0185	35	c.-50 others(42): Show c.-50_-49insACCGGGCCTCGCGCCCCGCGCCCCGCGCCCCGCGC	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	1/9	2731	INFO_REALIGN_3_PRIME	chr2	TogoVar
THNSL2_chr2_88165346_88191627	88181228	C C	CTCTCCTC others(28): Show CTCTCCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03669.hp1 HG00140.hp1 HG03669.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0007 a0004c0004t0006 a0004c0004t0007	a0004c0004t0006g0015 a0004c0004t0007g0014 a0004c0004t0006g0015 a0004c0004t0007g0014	2	54	0.0370	35	c.803 others(52): Show c.803-1471_803-1470insTCTCCTCTCTCCTCTCTCTCTCCTCTCT CCTCTCT	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8			chr2	TogoVar
THRAP3_chr1_36219443_36310357	36253760	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG03017.hp2 HG01168.hp2 HG03017.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0238 a0002c0003t0003g0239 a0002c0003t0003g0238 a0002c0003t0003g0239	2	252	0.0079	35	c.-13 others(54): Show c.-134-5603_-134-5602insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	THRAP3	ENSG00000054118.15	transcript	ENST00000354618.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
THRAP3_chr1_36219443_36310357	36292256	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	252	0.0040	35	c.191 others(52): Show c.1919-339_1919-338insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	THRAP3	ENSG00000054118.15	transcript	ENST00000354618.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
THRB_chr3_24112153_24499850	24261126	T T	TTTACCTC others(28): Show TTTACCTCTTGCCTCATTACTTGGCCCTTCTCTCCC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0145 a0001c0001t0021g0145	1	178	0.0056	35	c.-42 others(54): Show c.-42-32126_-42-32125insGGGAGAGAAGGGCCAAGTAATGAGGC AAGAGGTAA	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	3/10			chr3	TogoVar
THSD4_chr15_71110471_71788383	71172704	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATGTGAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0004 a0002c0005t0003g0004	1	116	0.0086	35	c.99+ others(52): Show c.99+17805_99+17806insACATATATATATATATATATATATATAT ATATGTG	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71299976	A A	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0051 a0001c0004t0008g0051	1	116	0.0086	35	c.101 others(56): Show c.1015+43262_1015+43263insAAAAAAATATATATATATATATAT ATATATATATA	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71577709	A A	ATTTATTT others(28): Show ATTTATTTTATTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01496.hp2 HG02145.hp1 others(12): Show HG01167.hp2 HG01496.hp2 HG02145.hp1 HG02300.hp2 HG02451.hp2 HG02622.hp1 HG02735.hp2 HG02818.hp1 HG03139.hp1 HG03453.hp2 HG03486.hp1 HG03654.hp2 HG03834.hp1 NA18966.hp2 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0021 a0002c0005 a0003c0010	a0001c0001t0001 a0001c0001t0012 a0001c0001t0039 others(12): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0039 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0035 a0001c0003t0002 a0001c0003t0031 a0001c0006t0005 a0001c0007t0001 a0001c0021t0004 a0002c0005t0002 a0002c0005t0003 a0003c0010t0015	a0001c0001t0001g0042 a0001c0001t0012g0049 a0001c0001t0039g0011 others(12): Show a0001c0001t0001g0042 a0001c0001t0012g0049 a0001c0001t0039g0011 a0001c0002t0001g0090 a0001c0002t0002g0073 a0001c0002t0003g0111 a0001c0002t0035g0017 a0001c0003t0002g0050 a0001c0003t0031g0064 a0001c0006t0005g0068 a0001c0007t0001g0008 a0001c0021t0004g0010 a0002c0005t0002g0044 a0002c0005t0003g0114 a0003c0010t0015g0002	15	116	0.1293	35	c.115 others(56): Show c.1153-82793_1153-82792insATTTTATTTTATTTTATTTTATTT TATTTTATTTT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71724287	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0077 a0001c0002t0009g0077	1	116	0.0086	35	c.135 others(54): Show c.1358-4261_1358-4260insATATATATATATATATATATATATAT ATATTTTTT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71724288	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0019 a0001c0002t0024g0019	1	116	0.0086	35	c.135 others(54): Show c.1358-4261_1358-4260insATATATATATATATATATATATATAT ATATATATA	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	8/17			chr15	TogoVar
THSD7A_chr7_11365365_11837198	11769153	A A	ATATATAT others(28): Show ATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA21309.hp1 NA18747.hp2 NA21309.hp1	a0007 a0011 a0007 a0011	a0007c0070 a0011c0021 a0007c0070 a0011c0021	a0007c0070t0032 a0011c0021t0001 a0007c0070t0032 a0011c0021t0001	a0007c0070t0032g0158 a0011c0021t0001g0004 a0007c0070t0032g0158 a0011c0021t0001g0004	2	180	0.0111	35	c.190 others(54): Show c.190+62603_190+62604insAAAAAAAAAAAAAAAAATATATATAT ATATATATA	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	1/27			chr7	TogoVar
THSD7B_chr2_136760545_137682718	137590792	G G	GTTTTTTT others(28): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	98	0.0102	35	c.342 others(56): Show c.3423+18257_3423+18258insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	17/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
TIAM1_chr21_31113418_31349261	31228235	A A	AAAAAGGA others(28): Show AAAAAGGAGAAATAATCTGATAAGGATTTTTCCTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02897.hp2 HG02922.hp1 others(5): Show HG02615.hp2 HG02897.hp2 HG02922.hp1 HG03130.hp1 NA18522.hp2 NA19043.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0002t0004 a0001c0006t0001	a0001c0001t0002g0118 a0001c0001t0006g0060 a0001c0001t0008g0061 others(5): Show a0001c0001t0002g0118 a0001c0001t0006g0060 a0001c0001t0008g0061 a0001c0001t0008g0090 a0001c0002t0001g0095 a0001c0002t0001g0148 a0001c0002t0004g0105 a0001c0006t0001g0063	8	212	0.0377	35	c.158 others(54): Show c.1585-2286_1585-2285insAAAGGAAAAATCCTTATCAGATTATT TCTCCTTTT	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	6/27			chr21	TogoVar
TICRR_chr15_89570469_89633023	89609100	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0260 a0010c0011t0001g0260	1	344	0.0029	35	c.286 others(52): Show c.2869+179_2869+180insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	TICRR	ENSG00000140534.14	transcript	ENST00000268138.12	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
TIGD5_chr8_143592831_143608224	143606312	G G	GCAAAGGG others(28): Show GCAAAGGGCAGTGAAGTCCGGGACAAGATCAAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0059 a0002c0003t0059	a0002c0003t0059g0000 a0002c0003t0059g0000	1	437	0.0023	35	c.64 others(46): Show c.6480_*6481insCAAAGGGCAGTGAAGTCCGGGACAAGATCAAGAG C	TIGD5	ENSG00000179886.6	transcript	ENST00000504548.4	protein_coding		3089		chr8	TogoVar
TIMELESS_chr12_56411363_56454426	56420029	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03942.hp2 NA18944.hp2 others(2): Show HG00735.hp2 HG03942.hp2 NA18944.hp2 NA18955.hp2 NA18973.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0141 a0001c0003t0002g0147 a0001c0003t0002g0150 others(2): Show a0001c0003t0002g0141 a0001c0003t0002g0147 a0001c0003t0002g0150 a0001c0003t0002g0183 a0001c0003t0002g0339	5	402	0.0124	35	c.322 others(52): Show c.3228+539_3228+540insATATATATATATATATATATATATTTTT TTTTTTT	TIMELESS	ENSG00000111602.12	transcript	ENST00000553532.6	protein_coding	26/28			chr12	TogoVar
TIMM44_chr19_7921718_7948666	7945187	C C	CCACTACA others(28): Show CCACTACACTACACTACACTACACTACACTACACTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02080.hp2 HG01070.hp2 HG01071.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0090 a0001c0001t0001g0098 a0001c0001t0001g0014 a0001c0001t0001g0090 a0001c0001t0001g0098	3	384	0.0078	35	c.-15 others(46): Show c.-1537_-1536insTAGTGTAGTGTAGTGTAGTGTAGTGTAGTGTAGT G	TIMM44	ENSG00000104980.8	transcript	ENST00000270538.8	protein_coding		1522		chr19	TogoVar
TIMM9_chr14_58403495_58432531	58404119	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18948.hp1 NA18948.hp2 others(1): Show NA18747.hp1 NA18948.hp1 NA18948.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0053 a0001c0001t0001g0161 others(1): Show a0001c0001t0001g0025 a0001c0001t0001g0053 a0001c0001t0001g0161 a0001c0001t0001g0266	4	378	0.0106	35	c.49 others(46): Show c.4914_*4915insAAAAATATATATATATATATATATATATATATAT A	TIMM9	ENSG00000100575.14	transcript	ENST00000395159.7	protein_coding		4375		chr14	TogoVar
TIMM9_chr14_58403495_58432531	58404119	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp2 HG02258.hp1 others(1): Show HG00673.hp1 HG00673.hp2 HG02258.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0114 a0001c0001t0001g0156 others(1): Show a0001c0001t0001g0049 a0001c0001t0001g0114 a0001c0001t0001g0156 a0001c0001t0001g0233	4	378	0.0106	35	c.49 others(46): Show c.4914_*4915insAAAAAAATATATATATATATATATATATATATAT A	TIMM9	ENSG00000100575.14	transcript	ENST00000395159.7	protein_coding		4375		chr14	TogoVar
TIMM9_chr14_58403495_58432531	58404119	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01993.hp1 HG03927.hp2 others(1): Show HG01346.hp1 HG01993.hp1 HG03927.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0041 a0001c0001t0001g0109 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0041 a0001c0001t0001g0109 a0001c0001t0001g0112	4	378	0.0106	35	c.49 others(46): Show c.4914_*4915insAAAAAAAAATATATATATATATATATATATATAT A	TIMM9	ENSG00000100575.14	transcript	ENST00000395159.7	protein_coding		4375		chr14	TogoVar
TIMM9_chr14_58403495_58432531	58404119	A A	ATATATAT others(28): Show ATATATATATATATATATATATATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	378	0.0027	35	c.49 others(46): Show c.4914_*4915insAAAAAAAAAAAAATATATATATATATATATATAT A	TIMM9	ENSG00000100575.14	transcript	ENST00000395159.7	protein_coding		4375		chr14	TogoVar
TIMP3_chr22_32796705_32868041	32814324	A A	AAAGAAAG others(28): Show AAAGAAAGAAAGAAAGAAGAAAGAAAGGAAGAAAGG	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	368	0.0027	35	c.121 others(54): Show c.121+12218_121+12219insAGAAAGAAAGGAAGAAAGGAAGAAAG AAAGAAAGA	TIMP3	ENSG00000100234.12	transcript	ENST00000266085.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
TJP2_chr9_69169277_69260208	69234399	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	356	0.0028	35	c.167 others(50): Show c.1672-38_1672-37insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTT	TJP2	ENSG00000119139.21	transcript	ENST00000377245.9	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr9	TogoVar
TK2_chr16_66503003_66555122	66505212	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0200 a0001c0001t0007g0200	1	300	0.0033	35	c.67 others(46): Show c.6755_*6756insATATATATATATATATATATATATATATATATAT A	TK2	ENSG00000166548.17	transcript	ENST00000544898.6	protein_coding		2790		chr16	TogoVar
TK2_chr16_66503003_66555122	66505212	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0197 a0001c0001t0037g0197	1	300	0.0033	35	c.67 others(46): Show c.6755_*6756insAAATATATATATATATATATATATATATATATAT A	TK2	ENSG00000166548.17	transcript	ENST00000544898.6	protein_coding		2790		chr16	TogoVar
TLE1_chr9_81578683_81694547	81675698	G G	GTTTTTTT others(28): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	356	0.0028	35	c.234 others(52): Show c.234+9977_234+9978insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	TLE1	ENSG00000196781.16	transcript	ENST00000376499.8	protein_coding	4/19			chr9	TogoVar
TLK1_chr2_170985823_171165893	171103264	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0085 a0001c0001t0004g0085	1	266	0.0038	35	c.258 others(54): Show c.258+14474_258+14475insTATATATATATATATATATATATATA TATATATAT	TLK1	ENSG00000198586.14	transcript	ENST00000431350.7	protein_coding	2/20			chr2	TogoVar
TLL2_chr10_96359608_96518926	96361946	A A	ATACAATA others(28): Show ATACAATACAATACAATACAATACAATACAGTACAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0211 a0001c0001t0003g0211	1	256	0.0039	35	c.61 others(46): Show c.6141_*6142insCTGTACTGTATTGTATTGTATTGTATTGTATTGT A	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding		2661		chr10	TogoVar
TLL2_chr10_96359608_96518926	96361946	A A	ATACAATA others(28): Show ATACAATACAATACAATACAATACAGTACAGTACAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02622.hp2 HG03225.hp1 HG01884.hp2 HG02622.hp2 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0017 a0001c0003t0003 a0001c0003t0017	a0001c0003t0003g0080 a0001c0003t0003g0232 a0001c0003t0017g0243 a0001c0003t0003g0080 a0001c0003t0003g0232 a0001c0003t0017g0243	3	256	0.0117	35	c.61 others(46): Show c.6141_*6142insCTGTACTGTACTGTATTGTATTGTATTGTATTGT A	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding		2661		chr10	TogoVar
TLL2_chr10_96359608_96518926	96361946	A A	ATACAATA others(28): Show ATACAATACAATACAATACAGTACAGTACAGTACAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA20129.hp1 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0038 a0001c0001t0003 a0001c0001t0038	a0001c0001t0003g0070 a0001c0001t0038g0245 a0001c0001t0003g0070 a0001c0001t0038g0245	2	256	0.0078	35	c.61 others(46): Show c.6141_*6142insCTGTACTGTACTGTACTGTATTGTATTGTATTGT A	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding		2661		chr10	TogoVar
TLL2_chr10_96359608_96518926	96361976	G G	GTACAGTA others(28): Show GTACAGTACAGTACAATACAATACAATACAATACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 NA18612.hp2 HG00597.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0177 a0001c0001t0002g0135 a0001c0001t0002g0177	2	256	0.0078	35	c.61 others(46): Show c.6111_*6112insTTGTATTGTATTGTATTGTATTGTACTGTACTGT A	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding		2631		chr10	TogoVar
TLL2_chr10_96359608_96518926	96361976	G G	GTACAGTA others(28): Show GTACAGTACAGTACAGTACAATACAATACAATACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG03654.hp1 NA18950.hp1 others(1): Show HG02896.hp1 HG03654.hp1 NA18950.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0001 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0222 a0001c0001t0004g0054 a0001c0001t0006g0128 others(1): Show a0001c0001t0001g0222 a0001c0001t0004g0054 a0001c0001t0006g0128 a0001c0001t0006g0158	4	256	0.0156	35	c.61 others(46): Show c.6111_*6112insTTGTATTGTATTGTATTGTACTGTACTGTACTGT A	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding		2631		chr10	TogoVar
TLL2_chr10_96359608_96518926	96361976	G G	GTACAGTA others(28): Show GTACAGTACAGTACAGTACAGTACAATACAATACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02683.hp2 homoSapiens_chm13v2.hp1 HG02280.hp2 HG02683.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0204 a0001c0001t0001g0214 a0001c0003t0001g0073 a0001c0001t0001g0204 a0001c0001t0001g0214 a0001c0003t0001g0073	3	256	0.0117	35	c.61 others(46): Show c.6111_*6112insTTGTATTGTATTGTACTGTACTGTACTGTACTGT A	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding		2631		chr10	TogoVar
TLL2_chr10_96359608_96518926	96476240	A A	ATATATAT others(28): Show ATATATATATATATATATATATATTCTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02083.hp1 HG02300.hp1 others(3): Show HG01106.hp2 HG02083.hp1 HG02300.hp1 HG03195.hp2 NA19058.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0014	a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0002g0067 others(3): Show a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0002g0067 a0001c0001t0002g0150 a0001c0001t0003g0211 a0001c0001t0014g0026	6	256	0.0234	35	c.286 others(52): Show c.286+4108_286+4109insAAAAAAAAAAGAATATATATATATATAT ATATATA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	2/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96476240	A A	ATATATAT others(28): Show ATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0167 a0001c0001t0012g0167	1	256	0.0039	35	c.286 others(52): Show c.286+4108_286+4109insAAAAAAAAAAAAAAATATATATATATAT ATATATA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	2/20			chr10	TogoVar
TLN2_chr15_62385550_62849631	62631518	C C	CTTCCTTT others(28): Show CTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0022 a0001c0031t0022	a0001c0031t0022g0115 a0001c0031t0022g0115	1	144	0.0069	35	c.-37 others(54): Show c.-37+13072_-37+13073insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCC	TLN2	ENSG00000171914.17	transcript	ENST00000636159.2	protein_coding	3/58		INFO_REALIGN_3_PRIME	chr15	TogoVar
TLR9_chr3_52216080_52230645	52220318	A A	AGAGAGAG others(28): Show AGAGAGAGAGGAGAAAGGAAGGAAGGAGGGAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	372	0.0027	35	c.89 others(44): Show c.898_*899insCTCCCTCCCTCCTTCCTTCCTTTCTCCTCTCTCTC	TLR9	ENSG00000239732.4	transcript	ENST00000360658.3	protein_coding		761		chr3	TogoVar
TM4SF19_chr3_196318547_196343388	196335343	A A	AGGAGGGG others(28): Show AGGAGGGGTGCACTGGGAGGGTGGGGGTAGGAGAGG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	370	0.0027	35	c.-2+ others(50): Show c.-2+2886_-2+2920dupCCTCTCCTACCCCCACCCTCCCAGTGCACC CCTCC	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TM4SF19_chr3_196318547_196343388	196335366	G G	GGGGTAGG others(28): Show GGGGTAGGAGAGGGGAGGGGTGCCCTGGGAGGGTGT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0121 a0002c0002t0001g0121	1	370	0.0027	35	c.-2+ others(50): Show c.-2+2897_-2+2898insACACCCTCCCAGGGCACCCCTCCCCTCTCC TACCC	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TM4SF19_chr3_196318547_196343388	196335389	A A	ACTGGGAG others(28): Show ACTGGGAGGGTGTGGGTAGGAGAGGGGAGGGGTGCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA19004.hp2 HG00438.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0177 a0001c0001t0001g0146 a0001c0001t0001g0177	2	370	0.0054	35	c.-2+ others(50): Show c.-2+2840_-2+2874dupGGCACCCCTCCCCTCTCCTACCCACACCCT CCCAG	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TM4SF19_chr3_196318547_196343388	196335436	T T	TGGGTAGG others(28): Show TGGGTAGGAGAGGGGAGGGGTGCCCTGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	370	0.0027	35	c.-2+ others(50): Show c.-2+2793_-2+2827dupCCACCCTCCCAGGGCACCCCTCCCCTCTCC TACCC	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TM9SF4_chr20_32104714_32172256	32123190	A A	AGAGGGGG others(28): Show AGAGGGGGAGGGGGGGAGGGGGAGAGGGGGAGGGGG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	298	0.0034	35	c.16- others(50): Show c.16-9809_16-9808insGAGGGGGAGAGGGGGAGGGGGGAGGGGGAG GGGGG	TM9SF4	ENSG00000101337.16	transcript	ENST00000398022.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TM9SF4_chr20_32104714_32172256	32123866	A A	ATATATAT others(28): Show ATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0278 a0001c0001t0003g0278	1	298	0.0034	35	c.16- others(50): Show c.16-9146_16-9145insATATATATATATATATATATATTTTTTTTT TTTTT	TM9SF4	ENSG00000101337.16	transcript	ENST00000398022.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar

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