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
TMEM254_chr10_80073665_80097551	80093152	A A	AATATATA others(37): Show AATATATATTTTTTTATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA19063.hp1 NA18955.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0003 a0001c0002t0003g0009 a0001c0002t0003g0003 a0001c0002t0003g0009	2	390	0.0051	44	c.22 others(55): Show c.2235_*2236insATATATATTTTTTTATATATATATATATATATAT ATATATATAT	TMEM254	ENSG00000133678.14	transcript	ENST00000372281.8	protein_coding		602		chr10	TogoVar
TMEM272_chr13_51808347_51850177	51844203	T T	TATATATA others(37): Show TATATATATGTATATATATATGTGTGTATGTGTAGACACACACAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02896.hp1 HG02886.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0313 a0001c0001t0008g0293 a0001c0001t0003g0313 a0001c0001t0008g0293	2	432	0.0046	44	c.-24 others(59): Show c.-24+812_-24+813insGTGTGTGTGTCTACACATACACACATATAT ATATACATATATAT	TMEM272	ENSG00000281106.4	transcript	ENST00000629372.3	protein_coding	1/4			chr13	TogoVar
TMEM51_chr1_15148747_15225478	15192470	T T	TTTTTTTT others(37): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0041 a0001c0002t0005g0041	1	298	0.0034	44	c.-26 others(65): Show c.-266-18020_-266-18019insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTA	TMEM51	ENSG00000171729.14	transcript	ENST00000376008.3	protein_coding	1/3			chr1	TogoVar
TMEM63C_chr14_77176798_77264495	77229613	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA19043.hp1 HG00733.hp2 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0004 a0001c0006t0007 a0001c0005t0004 a0001c0006t0007	a0001c0005t0004g0183 a0001c0006t0007g0253 a0001c0005t0004g0183 a0001c0006t0007g0253	2	322	0.0062	44	c.351 others(61): Show c.351-1956_351-1955insTATATATATATATATATATATATATATA TATATATATATATATA	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TMEM70_chr8_73971195_73987783	73976049	A A	AGGCGGCA others(37): Show AGGCGGCAGGCGGGCGGCAGGCGGGCGGCAGGCGGGCGGCAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 NA19012.hp1 NA19056.hp1 others(1): Show HG00323.hp1 NA19012.hp1 NA19056.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	402	0.0100	44	c.-23 others(53): Show c.-233_-232insGGCGGCAGGCGGGCGGCAGGCGGGCGGCAGGCGGGC GGCAGGCG	TMEM70	ENSG00000175606.11	transcript	ENST00000312184.6	protein_coding		145		chr8	TogoVar
TMEM94_chr17_75451635_75505452	75464676	C C	CTTCCTTC others(37): Show CTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0182 a0001c0002t0001g0182	1	354	0.0028	44	c.-10 others(63): Show c.-106-7121_-106-7120insCTTCCTTCCTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTC	TMEM94	ENSG00000177728.17	transcript	ENST00000314256.12	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
TMEM98_chr17_32923153_32949315	32948022	C C	CTTCCTTC others(37): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG03471.hp2 HG02258.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0091 a0001c0001t0002g0002 a0001c0001t0002g0091	2	402	0.0050	44	c.70 others(55): Show c.7029_*7030insTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCT	TMEM98	ENSG00000006042.12	transcript	ENST00000579849.6	protein_coding		3708		chr17	TogoVar
TMEM98_chr17_32923153_32949315	32948026	C C	CTTCCTTC others(37): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02572.hp2 others(1): Show HG01891.hp2 HG02145.hp1 HG02572.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0008 a0001c0001t0003g0020 a0001c0001t0004g0003 others(1): Show a0001c0001t0002g0008 a0001c0001t0003g0020 a0001c0001t0004g0003 a0001c0001t0004g0043	4	402	0.0100	44	c.70 others(55): Show c.7033_*7034insTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCT	TMEM98	ENSG00000006042.12	transcript	ENST00000579849.6	protein_coding		3712		chr17	TogoVar
TMEM98_chr17_32923153_32949315	32948030	C C	CTTCCTTC others(37): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp2 HG03041.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0020 a0001c0001t0003g0004 a0001c0001t0003g0020	2	402	0.0050	44	c.70 others(55): Show c.7037_*7038insTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCT	TMEM98	ENSG00000006042.12	transcript	ENST00000579849.6	protein_coding		3716		chr17	TogoVar
TMEM98_chr17_32923153_32949315	32948034	C C	CTTCCTTC others(37): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG03098.hp1 HG02559.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	2	402	0.0050	44	c.70 others(55): Show c.7041_*7042insTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCT	TMEM98	ENSG00000006042.12	transcript	ENST00000579849.6	protein_coding		3720		chr17	TogoVar
TMEM98_chr17_32923153_32949315	32948038	C C	CTTCCTTC others(37): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01256.hp1 HG01258.hp1 others(7): Show HG00741.hp1 HG01256.hp1 HG01258.hp1 HG03139.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03834.hp1 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0002 a0001c0001t0003g0004 a0001c0001t0003g0038 others(2): Show a0001c0001t0002g0002 a0001c0001t0003g0004 a0001c0001t0003g0038 a0001c0001t0003g0075 a0001c0001t0003g0076	10	402	0.0249	44	c.70 others(55): Show c.7045_*7046insTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCT	TMEM98	ENSG00000006042.12	transcript	ENST00000579849.6	protein_coding		3724		chr17	TogoVar
TMIGD1_chr17_30311333_30339057	30319261	A A	AAAAAAAA others(37): Show AAAAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	348	0.0029	44	c.641 others(59): Show c.641-349_641-348insATATATATATATATATATATATATATATAT ATATATATTTTTTT	TMIGD1	ENSG00000182271.13	transcript	ENST00000328886.5	protein_coding	4/6			chr17	TogoVar
TMOD2_chr15_51746597_51821363	51781210	A A	ATCATGAG others(37): Show ATCATGAGGTCAGAAAACTTACCAGAGATGACCTATTGCTTGTTT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0351 a0001c0001t0001g0351	1	374	0.0027	44	c.624 others(57): Show c.624+40_624+83dupTGAGGTCAGAAAACTTACCAGAGATGACCTAT TGCTTGTTTTCA	TMOD2	ENSG00000128872.10	transcript	ENST00000249700.9	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
TMPRSS12_chr12_50837926_50892884	50872573	A A	ATATATAT others(37): Show ATATATATGTACATATATATGACGTATATGTACATATATATGACG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0277 a0003c0003t0001g0277	1	390	0.0026	44	c.653 others(63): Show c.653-12634_653-12591dupATGACGTATATATGTACATATATATG ACGTATATGTACATATAT	TMPRSS12	ENSG00000186452.11	transcript	ENST00000398458.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMPRSS12_chr12_50837926_50892884	50872684	A A	ATGTACAT others(37): Show ATGTACATATATATGACGTATATGCACATATATATGACGTATATG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0135 a0005c0005t0001g0135	1	390	0.0026	44	c.653 others(63): Show c.653-12560_653-12559insTACATATATATGACGTATATGCACAT ATATATGACGTATATGTG	TMPRSS12	ENSG00000186452.11	transcript	ENST00000398458.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMPRSS12_chr12_50837926_50892884	50872707	G G	GCACATAT others(37): Show GCACATATATATGACGTATATATGCACATATATATGACGTATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0140 a0004c0004t0003g0140	1	390	0.0026	44	c.653 others(63): Show c.653-12539_653-12538insCACATATATATGACGTATATATGCAC ATATATATGACGTATATA	TMPRSS12	ENSG00000186452.11	transcript	ENST00000398458.4	protein_coding	3/4			chr12	TogoVar
TMPRSS9_chr19_2355265_2431261	2375805	T T	TAGAAAAT others(37): Show TAGAAAATTACAACTGAAGGGACAAAGCAGATCAACGACCTGGGG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0019 a0019	a0019c0022 a0019c0022	a0019c0022t0002 a0019c0022t0002	a0019c0022t0002g0106 a0019c0022t0002g0106	1	114	0.0088	44	c.-25 others(63): Show c.-25-13954_-25-13911dupGAAAATTACAACTGAAGGGACAAAGC AGATCAACGACCTGGGGA	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2418575	T T	TCCCTCCC others(37): Show TCCCTCCCTACCTTTCCTTCCCTTCCCTCCCTCCCTTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0008 a0008	a0008c0024 a0008c0024	a0008c0024t0002 a0008c0024t0002	a0008c0024t0002g0114 a0008c0024t0002g0114	1	114	0.0088	44	c.215 others(61): Show c.2154+437_2154+438insCCCTCCCTACCTTTCCTTCCCTTCCCTC CCTCCCTTTCCTTCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18			chr19	TogoVar
TMTC1_chr12_29495840_29788942	29642924	C C	CAAAAAAA others(37): Show CAAAAAAAAAAACTCCCAAACAAACAAACAAACAAAAAAAACCCA	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0192 a0001c0002t0002g0192	1	276	0.0036	44	c.939 others(61): Show c.939-9589_939-9588insTGGGTTTTTTTTGTTTGTTTGTTTGTTT GGGAGTTTTTTTTTTT	TMTC1	ENSG00000133687.16	transcript	ENST00000539277.6	protein_coding	5/17			chr12	TogoVar
TMTC1_chr12_29495840_29788942	29643603	A A	ATTATATA others(37): Show ATTATATATTATATATATCTATATATTATATATATAATATATATG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0028 a0002c0009t0028	a0002c0009t0028g0215 a0002c0009t0028g0215	1	276	0.0036	44	c.939 others(63): Show c.939-10268_939-10267insCATATATATTATATATATAATATATA GATATATATAATATATAA	TMTC1	ENSG00000133687.16	transcript	ENST00000539277.6	protein_coding	5/17			chr12	TogoVar
TMTC2_chr12_82681906_83139866	82997352	A A	ATATATAT others(37): Show ATATATATATATGTGTATATATATATGTGTATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01515.hp1 HG04228.hp2 others(2): Show HG01255.hp2 HG01515.hp1 HG04228.hp2 HG06807.hp1 NA19063.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0032 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0032 a0002c0002t0002	a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0004g0074 others(2): Show a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0004g0074 a0001c0001t0032g0013 a0002c0002t0002g0093	5	96	0.0521	44	c.207 others(65): Show c.2070+11317_2070+11318insGTGTATATATATATGTGTATATAT ATATGTGTGTATATATATAT	TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMTC2_chr12_82681906_83139866	83045709	A A	ACACACAC others(37): Show ACACACACACACACACACACACACACACACACACACACCAGGGCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG06807.hp2 HG00323.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0026 a0002c0002t0002g0036 a0001c0001t0002g0026 a0002c0002t0002g0036	2	96	0.0208	44	c.215 others(63): Show c.2153-5178_2153-5177insACACACACACACACACACACCAGGGC TCACACACACACACACAC	TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TNFAIP8L2_chr1_151151649_151164749	151160238	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	348	0.0029	44	c.98 others(53): Show c.986_*987insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	TNFAIP8L2	ENSG00000163154.6	transcript	ENST00000368910.4	protein_coding		490		chr1	TogoVar
TNFAIP8L3_chr15_51051601_51099906	51087919	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18939.hp1 NA18982.hp2 others(2): Show HG02976.hp2 NA18939.hp1 NA18982.hp2 NA19087.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0156 a0001c0001t0001g0157 others(2): Show a0001c0001t0001g0133 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0191 a0001c0001t0001g0230	5	394	0.0127	44	c.52+ others(59): Show c.52+6624_52+6625insTATATATATATATATATATATATATATATA TATATATATATATA	TNFAIP8L3	ENSG00000183578.8	transcript	ENST00000637513.2	protein_coding	1/1			chr15	TogoVar
TNFRSF10B_chr8_23015133_23074031	23022510	T T	TACAGGAT others(37): Show TACAGGATGTTCCATCCACTGGGTGATGTTGGATGGGAGAGTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0023 a0012c0012t0023	a0012c0012t0023g0016 a0012c0012t0023g0016	1	384	0.0026	44	c.11 others(53): Show c.117_*160dupGAAACTCTCCCATCCAACATCACCCAGTGGATGGAA CATCCTGT	TNFRSF10B	ENSG00000120889.13	transcript	ENST00000276431.9	protein_coding	9/9	160		chr8	TogoVar
TNK2_chr3_195858364_195913551	195871978	C C	CTCCCCGG others(37): Show CTCCCCGGAGAACCCTCCCCTGGAGAACCCTCCCCTGGAGAACAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02615.hp2 HG02622.hp2 others(4): Show HG00673.hp2 HG02615.hp2 HG02622.hp2 HG02818.hp1 HG06807.hp2 NA19030.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0001c0040 a0002c0026 a0001c0006 a0001c0040 a0002c0026	a0001c0006t0001 a0001c0040t0001 a0002c0026t0001 others(1): Show a0001c0006t0001 a0001c0040t0001 a0002c0026t0001 a0002c0026t0009	a0001c0006t0001g0077 a0001c0006t0001g0092 a0001c0006t0001g0098 others(4): Show a0001c0006t0001g0077 a0001c0006t0001g0092 a0001c0006t0001g0098 a0001c0006t0001g0100 a0001c0040t0001g0019 a0002c0026t0001g0074 a0002c0026t0009g0099	7	372	0.0188	44	c.145 others(61): Show c.1451+297_1451+298insATGTTCTCCAGGGGAGGGTTCTCCAGGG GAGGGTTCTCCGGGGA	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	10/15			chr3	TogoVar
TNK2_chr3_195858364_195913551	195874580	C C	CCCCCTCG others(37): Show CCCCCTCGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAGCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0326 a0001c0001t0002g0326	1	372	0.0027	44	c.125 others(63): Show c.1257-2154_1257-2111dupAGCTTCTTGTGCCTCGGAGTGTGCGT GGGCGCCATCCCGAGGGG	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15			chr3	TogoVar
TNK2_chr3_195858364_195913551	195875068	C C	CCCCCTCG others(37): Show CCCCCTCGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAGCT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0263 a0001c0009t0002g0263	1	372	0.0027	44	c.125 others(63): Show c.1257-2642_1257-2599dupAGCTTCTTGTGCCTCGGAGTGTGCGT GGGCGCCATCCCGAGGGG	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15			chr3	TogoVar
TNKS_chr8_9550912_9787346	9698374	G G	GAAAAAAA others(37): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0260 a0001c0002t0004g0260	1	272	0.0037	44	c.110 others(63): Show c.1108-6272_1108-6271insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	TNKS	ENSG00000173273.17	transcript	ENST00000310430.11	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr8	TogoVar
TNKS_chr8_9550912_9787346	9721298	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01346.hp1 HG01358.hp1 HG01081.hp2 HG01346.hp1 HG01358.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0255 a0001c0002t0004g0257 a0001c0002t0004g0260 a0001c0002t0004g0255 a0001c0002t0004g0257 a0001c0002t0004g0260	3	272	0.0110	44	c.192 others(61): Show c.1921+767_1921+768insTATATATATATATATATATATATATATA TATATATATATATATA	TNKS	ENSG00000173273.17	transcript	ENST00000310430.11	protein_coding	12/26		INFO_REALIGN_3_PRIME	chr8	TogoVar
TNKS_chr8_9550912_9787346	9746881	C C	CTTTTTTT others(37): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0052 a0001c0002t0052	a0001c0002t0052g0111 a0001c0002t0052g0111	1	272	0.0037	44	c.264 others(63): Show c.2644-1124_2644-1123insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	TNKS	ENSG00000173273.17	transcript	ENST00000310430.11	protein_coding	17/26		INFO_REALIGN_3_PRIME	chr8	TogoVar
TNR_chr1_175310194_175748595	175331046	T T	TTTCTTTC others(37): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0064 a0001c0003t0004g0064	1	132	0.0076	44	c.363 others(61): Show c.3632-812_3632-811insGGAAGGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAA	TNR	ENSG00000116147.18	transcript	ENST00000367674.7	protein_coding	20/22			chr1	TogoVar
TNR_chr1_175310194_175748595	175417011	A A	AAAAGAAA others(37): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0055 a0002c0026t0055	a0002c0026t0055g0109 a0002c0026t0055g0109	1	132	0.0076	44	c.-63 others(63): Show c.-63-10278_-63-10235dupCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTT	TNR	ENSG00000116147.18	transcript	ENST00000367674.7	protein_coding	2/22			chr1	TogoVar
TNR_chr1_175310194_175748595	175417011	A A	AAAAGAAA others(37): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0068 a0001c0003t0004g0068	1	132	0.0076	44	c.-63 others(63): Show c.-63-10235_-63-10234insCTTTCTTTCTTTCTTCCTTTCTTTCT TTCTTTCTTTCTTTCTTT	TNR	ENSG00000116147.18	transcript	ENST00000367674.7	protein_coding	2/22			chr1	TogoVar
TOP1MT_chr8_143304324_143339880	143308355	G G	GGAGAGGG others(37): Show GGAGAGGGCGGCAGAGGGTCCCGCGTGGCAGAGGAGAGGGCGGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0001 a0002c0032t0001	a0002c0032t0001g0090 a0002c0032t0001g0090	1	430	0.0023	44	c.10 others(55): Show c.1085_*1086insTGCCGCCCTCTCCTCTGCCACGCGGGACCCTCTG CCGCCCTCTC	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding		968		chr8	TogoVar
TOP1MT_chr8_143304324_143339880	143322720	C C	CGCACGCC others(37): Show CGCACGCCACACACGCACGCCACACGCACGCCACACACAGGCACG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp1 HG02896.hp2 others(3): Show HG02145.hp2 HG02257.hp1 HG02896.hp2 HG02897.hp2 HG03453.hp1 HG03486.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0006 a0003c0002t0001g0101 a0003c0002t0001g0170 others(1): Show a0003c0002t0001g0006 a0003c0002t0001g0101 a0003c0002t0001g0170 a0003c0002t0001g0214	6	430	0.0140	44	c.960 others(61): Show c.960+1278_960+1279insCGTGCCTGTGTGTGGCGTGCGTGTGGCG TGCGTGTGTGGCGTGC	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
TOX_chr8_58800412_59124147	58998536	T T	TAATAAAT others(37): Show TAATAAATTTATGTAATAAATTTATATATAATAAATTTATATGTA	intron_variant intron_variant	MODIFIER	HG01071.hp1 NA18988.hp1 HG01071.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0038 a0001c0001t0006g0092 a0001c0001t0001g0038 a0001c0001t0006g0092	2	224	0.0089	44	c.103 others(63): Show c.103-38529_103-38528insTACATATAAATTTATTATATATAAAT TTATTACATAAATTTATT	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TP53AIP1_chr11_128930370_128947871	128930619	C C	CTGGGGTT others(37): Show CTGGGGTTAGGGAGGCCGGGGTTAGGGAGCCCGGGGTTAGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0169 a0002c0002t0009g0169	1	466	0.0022	44	c.49 others(55): Show c.4971_*4972insCCTCCCTAACCCCGGGCTCCCTAACCCCGGCCTC CCTAACCCCA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4750		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930709	C C	CTGGGGTT others(37): Show CTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02717.hp2 HG01891.hp2 HG02717.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0057 a0002c0002t0001g0147 a0002c0002t0001g0057 a0002c0002t0001g0147	2	466	0.0043	44	c.48 others(55): Show c.4881_*4882insCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTC CCTAACCCCA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4660		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930878	G G	GGGTTAAG others(37): Show GGGTTAAGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	466	0.0022	44	c.47 others(55): Show c.4712_*4713insTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCTTAACC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4491		chr11	TogoVar
TP63_chr3_189626389_189902276	189771302	A A	ATATATAT others(37): Show ATATATATAATATATTATATATTTATATATAATATATTATATATT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01358.hp1 HG01261.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0029 a0001c0001t0023 a0001c0001t0029	a0001c0001t0023g0060 a0001c0001t0029g0091 a0001c0001t0023g0060 a0001c0001t0029g0091	2	312	0.0064	44	c.324 others(63): Show c.324+32564_324+32565insTATATATTTATATATAATATATTATA TATTTATATATAATATAT	TP63	ENSG00000073282.14	transcript	ENST00000264731.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
TPCN1_chr12_113216464_113303585	113297199	A A	ACATCTGA others(37): Show ACATCTGAGCGTGGTGGAGGTAGGAGGGTTGCCAGCTGCAGTGAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0223 a0001c0001t0015g0223	1	250	0.0040	44	c.11 others(55): Show c.1125_*1168dupATCTGAGCGTGGTGGAGGTAGGAGGGTTGCCAGC TGCAGTGACC	TPCN1	ENSG00000186815.13	transcript	ENST00000335509.11	protein_coding	28/28	1169	INFO_REALIGN_3_PRIME	chr12	TogoVar
TPD52L1_chr6_125148773_125269407	125165092	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA21309.hp2 NA18998.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0036 a0001c0001t0004g0035 a0001c0001t0001g0036 a0001c0001t0004g0035	2	320	0.0063	44	c.19+ others(61): Show c.19+11129_19+11130insATATATATATATATATATATATATATAT ATATATATTTATATAT	TPD52L1	ENSG00000111907.21	transcript	ENST00000534000.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
TPD52L1_chr6_125148773_125269407	125165092	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02615.hp1 HG02615.hp2 others(5): Show HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02818.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0002c0003t0001	a0001c0001t0001g0197 a0001c0001t0002g0196 a0001c0001t0003g0082 others(5): Show a0001c0001t0001g0197 a0001c0001t0002g0196 a0001c0001t0003g0082 a0001c0001t0005g0314 a0001c0001t0005g0315 a0002c0003t0001g0093 a0002c0003t0001g0106 a0002c0003t0001g0107	8	320	0.0250	44	c.19+ others(61): Show c.19+11129_19+11130insATATATATATATATATATATATATATAT ATATTTATTTATATAT	TPD52L1	ENSG00000111907.21	transcript	ENST00000534000.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
TPD52L1_chr6_125148773_125269407	125165092	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATTTATTTATT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	320	0.0031	44	c.19+ others(61): Show c.19+11129_19+11130insATATATATATATATATATATATATATAT TTATTTATTTATATAT	TPD52L1	ENSG00000111907.21	transcript	ENST00000534000.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
TPD52L3_chr9_6323375_6336891	6332783	A A	AGGGGGGG others(37): Show AGGGGGGGGGGGGGGGCAGGGGGGGGCTCGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0001 a0001c0001t0012g0001	1	396	0.0025	44	c.17 others(55): Show c.1764_*1765insGGGGGGGGGGGGGGGCAGGGGGGGGCTCGGGGGG GGGGGGGGGG	TPD52L3	ENSG00000170777.11	transcript	ENST00000314556.4	protein_coding		893		chr9	TogoVar
TPD52_chr8_80029745_80176564	80072798	C C	CACACATA others(37): Show CACACATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0072 a0001c0001t0005g0072	1	228	0.0044	44	c.20- others(59): Show c.20-8206_20-8205insATATATATATATATATATATATATATATAT ATATATATATGTGT	TPD52	ENSG00000076554.16	transcript	ENST00000518937.6	protein_coding	1/7			chr8	TogoVar
TPH2_chr12_71933845_72037440	71982015	A A	ATTTTTTT others(37): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0183 a0001c0002t0001g0183	1	334	0.0030	44	c.941 others(61): Show c.941+2945_941+2946insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	TPH2	ENSG00000139287.13	transcript	ENST00000333850.4	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
TPRA1_chr3_127566232_127595733	127574096	C C	CCAAGACA others(37): Show CCAAGACAGAGCATGGGCTTCAATCCTGGCTGACCATGCTGCCTG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0072 a0001c0002t0010g0072	1	426	0.0024	44	c.855 others(59): Show c.855-309_855-308insCAGGCAGCATGGTCAGCCAGGATTGAAGCC CATGCTCTGTCTTG	TPRA1	ENSG00000163870.16	transcript	ENST00000355552.8	protein_coding	10/10			chr3	TogoVar
TPRG1_chr3_189166971_189330304	189272682	C C	CCTTTCTT others(37): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0144 a0001c0001t0015g0144	1	288	0.0035	44	c.479 others(63): Show c.479+33787_479+33788insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCT	TPRG1	ENSG00000188001.10	transcript	ENST00000345063.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar

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