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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
TECR_chr19_14524594_14570980	14543405	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	332	0.0030	-27	c.15+ others(44): Show c.15+13696_15+13722delATATATATATATATTTTTTTTTTTTTT		TECR	ENSG00000099797.15	transcript	ENST00000215567.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
TECTB_chr10_112278400_112310038	112300231	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00438.hp2 others(51): Show HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp2 HG01109.hp1 HG01167.hp2 HG01496.hp2 HG01928.hp1 HG01981.hp1 HG02004.hp2 HG02055.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02559.hp2 HG03239.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03710.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 NA18612.hp1 NA18950.hp2 NA18955.hp1 NA18957.hp2 NA18972.hp2 NA18981.hp1 NA18984.hp1 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19002.hp1 NA19003.hp2 NA19054.hp2 NA19063.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19075.hp2 NA19083.hp2 NA19084.hp1 NA19240.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0010 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0005t0001 a0001c0007t0006 a0001c0010t0001 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0016 others(38): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0189 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0307 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0353 a0001c0001t0001g0355 a0001c0001t0002g0143 a0001c0001t0002g0148 a0001c0001t0003g0001 a0001c0001t0003g0036 a0001c0001t0003g0196 a0001c0001t0008g0344 a0001c0002t0001g0079 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0179 a0001c0002t0001g0214 a0001c0002t0001g0217 a0001c0002t0001g0265 a0001c0002t0001g0309 a0001c0002t0002g0155 a0001c0002t0008g0267 a0001c0005t0001g0082 a0001c0007t0006g0141 a0001c0010t0001g0126 a0002c0004t0001g0272	54	438	0.1233	-27	c.907 others(42): Show c.907+670_907+696delGAAAGAAAGAAAGAAAGAAAGAAAGAA		TECTB	ENSG00000119913.6	transcript	ENST00000646139.2	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
TENM2_chr5_166974029_168269157	167350765	TATATATA others(20): Show TATATATATATGGGATATATACATATGG	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0008 a0001c0026t0008	a0001c0026t0008g0005 a0001c0026t0008g0005	1	54	0.0185	-27	c.227 others(46): Show c.227-24363_227-24337delATATACATATGGATATATATATGGGA T		TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	3/30					INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM2_chr5_166974029_168269157	167796364	ATGCTCTC others(20): Show ATGCTCTCTGGTTCCAGATGCACTGACT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03130.hp2 NA19043.hp1 HG02145.hp1 HG03130.hp2 NA19043.hp1	a0005 a0009 a0005 a0009	a0005c0034 a0005c0035 a0009c0033 a0005c0034 a0005c0035 a0009c0033	a0005c0034t0025 a0005c0035t0001 a0009c0033t0012 a0005c0034t0025 a0005c0035t0001 a0009c0033t0012	a0005c0034t0025g0002 a0005c0035t0001g0039 a0009c0033t0012g0046 a0005c0034t0025g0002 a0005c0035t0001g0039 a0009c0033t0012g0046	3	54	0.0556	-27	c.503 others(46): Show c.503-79612_503-79586delGTTCCAGATGCACTGACTTGCTCTCT G		TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30					INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM2_chr5_166974029_168269157	168000942	CAGGTCCA others(20): Show CAGGTCCAATGAGACCTGCATTGGACTG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01192.hp1 HG01192.hp2 others(28): Show HG01081.hp2 HG01192.hp1 HG01192.hp2 HG01891.hp2 HG01943.hp2 HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp2 HG04204.hp1 NA19043.hp2 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(23): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0010 a0001c0012 a0001c0016 a0001c0018 a0001c0019 a0001c0022 a0001c0026 a0001c0029 a0001c0030 a0001c0031 a0001c0037 a0001c0038 a0002c0024 a0002c0032 a0003c0014 a0003c0020 a0004c0009 a0006c0013 a0007c0011 a0008c0036	a0001c0001t0006 a0001c0001t0029 a0001c0002t0002 others(28): Show a0001c0001t0006 a0001c0001t0029 a0001c0002t0002 a0001c0002t0013 a0001c0003t0001 a0001c0003t0002 a0001c0004t0007 a0001c0004t0009 a0001c0005t0005 a0001c0008t0003 a0001c0010t0001 a0001c0012t0023 a0001c0016t0015 a0001c0018t0003 a0001c0019t0003 a0001c0022t0021 a0001c0026t0008 a0001c0029t0003 a0001c0030t0026 a0001c0031t0001 a0001c0037t0030 a0001c0038t0006 a0002c0024t0014 a0002c0032t0005 a0003c0014t0019 a0003c0020t0028 a0004c0009t0003 a0004c0009t0018 a0006c0013t0027 a0007c0011t0010 a0008c0036t0009	a0001c0001t0006g0001 a0001c0001t0029g0006 a0001c0002t0002g0032 others(28): Show a0001c0001t0006g0001 a0001c0001t0029g0006 a0001c0002t0002g0032 a0001c0002t0013g0041 a0001c0003t0001g0040 a0001c0003t0002g0007 a0001c0004t0007g0054 a0001c0004t0009g0025 a0001c0005t0005g0034 a0001c0008t0003g0029 a0001c0010t0001g0043 a0001c0012t0023g0016 a0001c0016t0015g0047 a0001c0018t0003g0023 a0001c0019t0003g0022 a0001c0022t0021g0024 a0001c0026t0008g0005 a0001c0029t0003g0019 a0001c0030t0026g0014 a0001c0031t0001g0050 a0001c0037t0030g0011 a0001c0038t0006g0003 a0002c0024t0014g0048 a0002c0032t0005g0018 a0003c0014t0019g0008 a0003c0020t0028g0013 a0004c0009t0003g0027 a0004c0009t0018g0033 a0006c0013t0027g0015 a0007c0011t0010g0038 a0008c0036t0009g0017	31	54	0.5741	-27	c.118 others(46): Show c.1186+7761_1186+7787delAGGTCCAATGAGACCTGCATTGGACT G		TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	7/30						chr5	TogoVar
TERF1_chr8_73003864_73053123	73008053	AACAAAAA others(20): Show AACAAAAAACAAAAACAATAACCAGACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	342	0.0029	-27	c.-83 others(36): Show c.-833_-807delACAAAAAACAAAAACAATAACCAGACC		TERF1	ENSG00000147601.15	transcript	ENST00000276603.10	protein_coding					810		chr8	TogoVar
TESK2_chr1_45338883_45496163	45354812	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03017.hp2 HG02922.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0002 a0001c0001t0014 a0001c0002t0002	a0001c0001t0014g0098 a0001c0002t0002g0033 a0001c0001t0014g0098 a0001c0002t0002g0033	2	286	0.0070	-27	c.540 others(42): Show c.540+464_540+490delATATATATATATATATATATATATTTT		TESK2	ENSG00000070759.17	transcript	ENST00000372086.4	protein_coding	5/10						chr1	TogoVar
TEX11_chrX_70523940_70913711	70792310	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19030.hp2 NA20129.hp2 HG02965.hp1 NA19030.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0012 a0001c0001t0001g0091 a0002c0002t0001g0017 a0001c0001t0001g0012 a0001c0001t0001g0091 a0002c0002t0001g0017	3	229	0.0131	-27	c.692 others(46): Show c.692+14368_692+14394delATATATATATATATATATATATTTTT T		TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	9/29						chrX	TogoVar
TEX11_chrX_70523940_70913711	70792316	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp2 HG02886.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0138 a0001c0001t0001g0126 a0001c0001t0001g0138	2	229	0.0087	-27	c.692 others(46): Show c.692+14362_692+14388delATATATATATATATATATATATATAT A		TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	9/29						chrX	TogoVar
TEX11_chrX_70523940_70913711	70906079	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02040.hp1 HG04115.hp1 others(5): Show HG01952.hp1 HG02040.hp1 HG04115.hp1 NA18950.hp2 NA18960.hp1 NA18969.hp2 NA19082.hp1 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0004c0008 a0001c0001 a0004c0005 a0004c0008	a0001c0001t0001 a0004c0005t0001 a0004c0008t0001 a0001c0001t0001 a0004c0005t0001 a0004c0008t0001	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 others(5): Show a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0004c0005t0001g0075 a0004c0008t0001g0071 a0004c0008t0001g0076	8	229	0.0349	-27	c.37+ others(42): Show c.37+1647_37+1673delATATATATATATATATTTTTTTTTTTT		TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	2/29						chrX	TogoVar
TEX11_chrX_70523940_70913711	70906085	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA19083.hp1 HG06807.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0220 a0001c0001t0001g0095 a0001c0001t0001g0220	2	229	0.0087	-27	c.37+ others(42): Show c.37+1641_37+1667delATATATATATATATATATATATTTTTT		TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	2/29						chrX	TogoVar
TEX44_chr2_231587864_231599276	231589822	GAAGATTG others(20): Show GAAGATTGAAACTGGCCTGTTTCTGTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	438	0.0023	-27	c.-31 others(38): Show c.-3129_-3103delAAGATTGAAACTGGCCTGTTTCTGTCA		TEX44	ENSG00000177673.4	transcript	ENST00000313965.4	protein_coding					3041		chr2	TogoVar
TFAP2E_chr1_35568314_35600328	35595886	CTGTTACC others(20): Show CTGTTACCATGCCCGTTGGTGGTGGATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01255.hp1 HG02818.hp1 HG00558.hp2 HG01255.hp1 HG02818.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0001 a0004c0010t0001 a0001c0001t0001 a0004c0010t0001	a0001c0001t0001g0084 a0001c0001t0001g0107 a0004c0010t0001g0066 a0001c0001t0001g0084 a0001c0001t0001g0107 a0004c0010t0001g0066	3	370	0.0081	-27	c.12 others(38): Show c.1211_*1237delTGTTACCATGCCCGTTGGTGGTGGATT		TFAP2E	ENSG00000116819.9	transcript	ENST00000373235.4	protein_coding					559		chr1	TogoVar
TFPI_chr2_187459230_187559435	187490711	TTTTAATT others(20): Show TTTTAATTTAATCTAATTATCATTAAAG	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	344	0.0029	-27	c.320 others(44): Show c.320-2363_320-2337delCTTTAATGATAATTAGATTAAATTAAA		TFPI	ENSG00000003436.16	transcript	ENST00000233156.9	protein_coding	3/7						chr2	TogoVar
TGDS_chr13_94569054_94601152	94598344	AAATACCA others(20): Show AAATACCACATATATTTGTGGTATTTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	374	0.0027	-27	c.-22 others(38): Show c.-2235_-2209delACAAATACCACAAATATATGTGGTATT		TGDS	ENSG00000088451.11	transcript	ENST00000261296.7	protein_coding					2193		chr13	TogoVar
TGFBR3_chr1_91675343_91891151	91818277	CCTTTTTT others(20): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18947.hp2 NA19030.hp1 others(2): Show HG02280.hp1 NA18947.hp2 NA19030.hp1 NA19030.hp2 NA19078.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0002c0004t0013	a0001c0001t0001g0096 a0001c0001t0005g0076 a0001c0001t0008g0011 others(2): Show a0001c0001t0001g0096 a0001c0001t0005g0076 a0001c0001t0008g0011 a0001c0001t0008g0013 a0002c0004t0013g0273	5	284	0.0176	-27	c.62- others(44): Show c.62-20833_62-20807delAAAAAAAAAAAAAAAAAAAAAAAAAAG		TGFBR3	ENSG00000069702.11	transcript	ENST00000212355.9	protein_coding	2/16						chr1	TogoVar
TGFBR3_chr1_91675343_91891151	91818278	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp1 others(57): Show HG00099.hp1 HG00140.hp1 HG00408.hp1 HG00438.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp2 HG01169.hp1 HG01255.hp2 HG01261.hp1 HG01496.hp2 HG01978.hp2 HG01981.hp2 HG02071.hp1 HG02074.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02523.hp1 HG02647.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02970.hp2 HG03041.hp1 HG03195.hp1 HG03516.hp1 HG04115.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18944.hp2 NA18948.hp2 NA18951.hp1 NA18959.hp1 NA18960.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18973.hp2 NA18980.hp1 NA18984.hp1 NA18991.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19012.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19066.hp2 NA19078.hp1 NA19080.hp2 NA19090.hp2 NA19091.hp2 NA20129.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0007	a0001c0001 a0001c0003 a0001c0017 others(11): Show a0001c0001 a0001c0003 a0001c0017 a0002c0004 a0002c0008 a0002c0010 a0002c0012 a0002c0016 a0002c0019 a0002c0038 a0004c0021 a0004c0040 a0006c0037 a0007c0039	a0001c0001t0038 a0001c0003t0003 a0001c0017t0001 others(26): Show a0001c0001t0038 a0001c0003t0003 a0001c0017t0001 a0002c0004t0002 a0002c0004t0009 a0002c0004t0013 a0002c0004t0021 a0002c0004t0022 a0002c0004t0031 a0002c0008t0002 a0002c0008t0015 a0002c0010t0002 a0002c0010t0009 a0002c0010t0022 a0002c0010t0023 a0002c0012t0020 a0002c0012t0028 a0002c0012t0032 a0002c0012t0033 a0002c0016t0009 a0002c0016t0023 a0002c0016t0024 a0002c0019t0014 a0002c0019t0015 a0002c0038t0014 a0004c0021t0002 a0004c0040t0002 a0006c0037t0015 a0007c0039t0013	a0001c0001t0038g0030 a0001c0003t0003g0148 a0001c0017t0001g0090 others(57): Show a0001c0001t0038g0030 a0001c0003t0003g0148 a0001c0017t0001g0090 a0002c0004t0002g0182 a0002c0004t0002g0186 a0002c0004t0002g0191 a0002c0004t0002g0197 a0002c0004t0002g0212 a0002c0004t0002g0213 a0002c0004t0002g0219 a0002c0004t0002g0221 a0002c0004t0002g0222 a0002c0004t0002g0241 a0002c0004t0009g0194 a0002c0004t0009g0203 a0002c0004t0009g0205 a0002c0004t0009g0244 a0002c0004t0013g0243 a0002c0004t0021g0180 a0002c0004t0022g0201 a0002c0004t0031g0184 a0002c0008t0002g0181 a0002c0008t0002g0187 a0002c0008t0002g0188 a0002c0008t0002g0190 a0002c0008t0002g0196 a0002c0008t0002g0199 a0002c0008t0002g0202 a0002c0008t0002g0206 a0002c0008t0002g0208 a0002c0008t0002g0209 a0002c0008t0002g0220 a0002c0008t0002g0225 a0002c0008t0015g0207 a0002c0010t0002g0172 a0002c0010t0002g0224 a0002c0010t0009g0099 a0002c0010t0009g0176 a0002c0010t0009g0192 a0002c0010t0009g0204 a0002c0010t0022g0193 a0002c0010t0023g0233 a0002c0012t0020g0002 a0002c0012t0020g0215 a0002c0012t0028g0019 a0002c0012t0032g0242 a0002c0012t0033g0245 a0002c0016t0009g0216 a0002c0016t0023g0189 a0002c0016t0024g0210 a0002c0016t0024g0218 a0002c0019t0014g0064 a0002c0019t0014g0100 a0002c0019t0015g0102 a0002c0038t0014g0171 a0004c0021t0002g0183 a0004c0021t0002g0217 a0004c0040t0002g0200 a0006c0037t0015g0211 a0007c0039t0013g0198	60	284	0.2113	-27	c.62- others(44): Show c.62-20834_62-20808delAAAAAAAAAAAAAAAAAAAAAAAAAAA		TGFBR3	ENSG00000069702.11	transcript	ENST00000212355.9	protein_coding	2/16						chr1	TogoVar
TGIF2LX_chrX_89916908_89927883	89918564	TTTATTTT others(20): Show TTTATTTTTATTATTATTATTATTATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02630.hp2 others(3): Show HG02055.hp1 HG02451.hp1 HG02630.hp2 HG02886.hp2 HG02970.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	6	323	0.0186	-27	c.-34 others(38): Show c.-3425_-3399delTTATTTTTATTATTATTATTATTATTA		TGIF2LX	ENSG00000153779.11	transcript	ENST00000283891.6	protein_coding					3343		chrX	TogoVar
TGM5_chr15_43227590_43271928	43261060	CTTTTTTT others(20): Show CTTTTTTTGTGTGTGTGTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18980.hp2 NA19055.hp2 others(3): Show HG02129.hp2 NA18980.hp2 NA19055.hp2 NA19074.hp1 NA19083.hp2 NA19084.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0005 a0002c0003 a0004c0005	a0002c0003t0001 a0004c0005t0002 a0002c0003t0001 a0004c0005t0002	a0002c0003t0001g0026 a0004c0005t0002g0027 a0004c0005t0002g0073 others(1): Show a0002c0003t0001g0026 a0004c0005t0002g0027 a0004c0005t0002g0073 a0004c0005t0002g0074	6	334	0.0180	-27	c.11- others(40): Show c.11-508_11-482delAAAAAAAAAAACACACACACAAAAAAA		TGM5	ENSG00000104055.17	transcript	ENST00000220420.10	protein_coding	1/12						chr15	TogoVar
THADA_chr2_43225851_43601038	43431642	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	206	0.0049	-27	c.383 others(46): Show c.3837-1367_3837-1341delAAAAAAAAAAAAAAAAAAAAAAAAAA A		THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	26/37						chr2	TogoVar
THAP2_chr12_71659301_71685644	71681646	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	374	0.0027	-27	c.45 others(38): Show c.4539_*4565delAAAAAAAAAAAAAAAAAAAAAAAAAAA		THAP2	ENSG00000173451.7	transcript	ENST00000308086.3	protein_coding					1003		chr12	TogoVar
THAP4_chr2_241579405_241642158	241620175	GTGAGTCG others(20): Show GTGAGTCGGTGAGTGAGGGGTGAGGAGT	G G	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	390	0.0026	-27	c.124 others(48): Show c.1240+12715_1240+12741delACTCCTCACCCCTCACTCACCGAC TCA		THAP4	ENSG00000176946.13	transcript	ENST00000407315.6	protein_coding	2/5						chr2	TogoVar
THAP7_chr22_20994104_21007118	20996374	TGTGTGAC others(20): Show TGTGTGACAGTTGAGCACAGACATGGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	432	0.0023	-27	c.34 others(38): Show c.3479_*3505delCTCCATGTCTGTGCTCAACTGTCACAC		THAP7	ENSG00000184436.12	transcript	ENST00000215742.9	protein_coding					2729		chr22	TogoVar
THAP9_chr4_82895735_82924969	82922710	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG03225.hp2 HG02615.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	2	388	0.0052	-27	c.37 others(38): Show c.3787_*3813delTTTTTTTTTTTTTTTTTTTTTTTTTTT		THAP9	ENSG00000168152.13	transcript	ENST00000302236.10	protein_coding					2742		chr4	TogoVar
THEG_chr19_356747_381026	373775	TCCTGGGA others(20): Show TCCTGGGAGCAGACCCAGGTCACAAGGG	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0349 a0005c0005t0004g0349	1	370	0.0027	-27	c.503 others(42): Show c.503+138_503+164delCCCTTGTGACCTGGGTCTGCTCCCAGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding	3/7						chr19	TogoVar
THEG_chr19_356747_381026	374299	CTGTCTTT others(20): Show CTGTCTTTCAGGACTTGCCAGTTTATCT	C C	disruptive_inframe_deletion others(1): Show disruptive_inframe_deletion splice_region_variant	MODERATE	HG00733.hp2 HG00733.hp2	a0020 a0020	a0020c0035 a0020c0035	a0020c0035t0001 a0020c0035t0001	a0020c0035t0001g0217 a0020c0035t0001g0217	1	370	0.0027	-27	c.404 others(34): Show c.404_430delAGATAAACTGGCAAGTCCTGAAAGACA	p.Lys others(13): Show p.Lys135_Asp143del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding	2/8	486/1649	404/1140	135/379			chr19	TogoVar
THEG_chr19_356747_381026	376746	GCCCCACC others(20): Show GCCCCACCCAGCCTCTCCCCCTCTGTGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	370	0.0027	-27	c.-80 others(36): Show c.-803_-777delGCACAGAGGGGGAGAGGCTGGGTGGGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					721		chr19	TogoVar
THEG_chr19_356747_381026	376769	TGTGCCCC others(20): Show TGTGCCCCCACCCAGCCTCTCCCCCTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 NA19086.hp2 HG02965.hp1 NA19086.hp2	a0007 a0009 a0007 a0009	a0007c0013 a0009c0011 a0007c0013 a0009c0011	a0007c0013t0006 a0009c0011t0020 a0007c0013t0006 a0009c0011t0020	a0007c0013t0006g0015 a0009c0011t0020g0114 a0007c0013t0006g0015 a0009c0011t0020g0114	2	370	0.0054	-27	c.-82 others(36): Show c.-826_-800delGGAGGGGGAGAGGCTGGGTGGGGGCAC		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					744		chr19	TogoVar
THEG_chr19_356747_381026	376827	CCCACCCA others(20): Show CCCACCCAGCCTCTCCCCCCCCGTGCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	370	0.0027	-27	c.-88 others(36): Show c.-884_-858delAGGCACGGGGGGGGAGAGGCTGGGTGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					802		chr19	TogoVar
THEG_chr19_356747_381026	376981	GCCCCACC others(20): Show GCCCCACCCAGCCTCTCCCCCTCTGTGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0019 a0019	a0019c0025 a0019c0025	a0019c0025t0001 a0019c0025t0001	a0019c0025t0001g0155 a0019c0025t0001g0155	1	370	0.0027	-27	c.-10 others(38): Show c.-1038_-1012delGCACAGAGGGGGAGAGGCTGGGTGGGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					956		chr19	TogoVar
THEG_chr19_356747_381026	377289	CTGTGCCC others(20): Show CTGTGCCCCACCCAGCCTCTCCCCCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	370	0.0027	-27	c.-13 others(38): Show c.-1346_-1320delAGAGGGGGAGAGGCTGGGTGGGGCACA		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1264		chr19	TogoVar
THEMIS_chr6_127703200_127906058	127784979	CTATCTAT others(20): Show CTATCTATCTATCTATCTATCTATCTAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02809.hp2 HG02970.hp2 others(6): Show HG02615.hp2 HG02809.hp2 HG02970.hp2 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03540.hp1 NA19043.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0010 a0002c0001 a0001c0002 a0001c0010 a0002c0001	a0001c0002t0001 a0001c0010t0001 a0002c0001t0001 a0001c0002t0001 a0001c0010t0001 a0002c0001t0001	a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 others(6): Show a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0023 a0001c0002t0001g0128 a0001c0002t0001g0134 a0001c0010t0001g0085 a0002c0001t0001g0002 a0002c0001t0001g0022	9	223	0.0404	-27	c.175 others(48): Show c.1758+27877_1758+27903delATAGATAGATAGATAGATAGATAG ATA		THEMIS	ENSG00000172673.12	transcript	ENST00000368248.5	protein_coding	4/5						chr6	TogoVar
THOC7_chr3_63828870_63868805	63863805	CGGCGGCG others(20): Show CGGCGGCGGCGGCGGCGGCGCAAGCTGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	374	0.0027	-27	c.-42 others(34): Show c.-42_-16delTCAGCTTGCGCCGCCGCCGCCGCCGCC		THOC7	ENSG00000163634.12	transcript	ENST00000295899.10	protein_coding					1		chr3	TogoVar
THOP1_chr19_2780503_2820807	2805847	GGGGGGAC others(20): Show GGGGGGACGGGCGGGTGCCCATCACTGC	G G	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0149 a0001c0001t0009g0149	1	370	0.0027	-27	c.750 others(42): Show c.750+677_750+703delACGGGCGGGTGCCCATCACTGCGGGGG		THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
THOP1_chr19_2780503_2820807	2805903	GGGGGGAC others(20): Show GGGGGGACGGGCGGGTGCCCATCACTGC	G G	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02083.hp2 HG01993.hp1 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0001 a0001c0017t0001 a0001c0001t0001 a0001c0017t0001	a0001c0001t0001g0134 a0001c0017t0001g0148 a0001c0001t0001g0134 a0001c0017t0001g0148	2	370	0.0054	-27	c.750 others(42): Show c.750+733_750+759delACGGGCGGGTGCCCATCACTGCGGGGG		THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
THRB_chr3_24112153_24499850	24113911	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0035 a0001c0001t0052g0035	1	178	0.0056	-27	c.89 others(38): Show c.8946_*8972delAAAAAAAAAAAAAAAAAAAAAAAAAAA		THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding					3241		chr3	TogoVar
THRB_chr3_24112153_24499850	24254199	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	178	0.0056	-27	c.-42 others(46): Show c.-42-25225_-42-25199delTTTTTTTTTTTTTTTTTTTTTTTTTT T		THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	3/10						chr3	TogoVar
THSD4_chr15_71110471_71788383	71593423	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03540.hp2 HG02055.hp1 HG03540.hp2	a0001 a0005 a0001 a0005	a0001c0003 a0005c0017 a0001c0003 a0005c0017	a0001c0003t0004 a0005c0017t0023 a0001c0003t0004 a0005c0017t0023	a0001c0003t0004g0112 a0005c0017t0023g0105 a0001c0003t0004g0112 a0005c0017t0023g0105	2	116	0.0172	-27	c.115 others(48): Show c.1153-67082_1153-67056delAAAAAAAAAAAAAAAAAAAAAAAA AAA		THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	7/17					INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD7B_chr2_136760545_137682718	137117161	AGGTTTTA others(20): Show AGGTTTTATTTTGCTCTTGTGTGGAAGT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp2 HG02257.hp2 HG02451.hp2	a0002 a0006 a0002 a0006	a0002c0006 a0006c0023 a0002c0006 a0006c0023	a0002c0006t0001 a0006c0023t0002 a0002c0006t0001 a0006c0023t0002	a0002c0006t0001g0015 a0006c0023t0002g0014 a0002c0006t0001g0015 a0006c0023t0002g0014	2	98	0.0204	-27	c.136 others(46): Show c.1369+1870_1369+1896delGTTTTATTTTGCTCTTGTGTGGAAGT G		THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	5/27					INFO_REALIGN_3_PRIME	chr2	TogoVar
TIAM1_chr21_31113418_31349261	31181756	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01952.hp1 HG02559.hp1 HG01081.hp1 HG01952.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0117 a0001c0002t0004g0092 a0001c0002t0004g0167 a0001c0002t0001g0117 a0001c0002t0004g0092 a0001c0002t0004g0167	3	212	0.0142	-27	c.288 others(44): Show c.2887+638_2887+664delAAAAAAAAAAAAAAAAAAAAAAAAAAA		TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	15/27						chr21	TogoVar
TIAM1_chr21_31113418_31349261	31210588	AAGAAAGA others(20): Show AAGAAAGAGAGAAAGAAGGAAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0074 a0001c0001t0010g0074	1	212	0.0047	-27	c.221 others(44): Show c.2218-400_2218-374delCCCTTCCTTCCTTCTTTCTCTCTTTCT		TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	10/27						chr21	TogoVar
TIAM2_chr6_154990315_155262723	155028273	TATATGTA others(20): Show TATATGTACTGTGTTACATATATACTAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01106.hp2 HG01109.hp2 others(7): Show HG00741.hp1 HG01106.hp2 HG01109.hp2 HG01175.hp2 HG01243.hp2 HG01257.hp2 HG01261.hp1 HG03239.hp1 HG04199.hp1 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0002c0033 a0003c0006 a0006c0010	a0001c0001t0001 a0001c0002t0001 a0001c0002t0010 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0010 a0001c0004t0035 a0001c0008t0006 a0001c0008t0007 a0002c0033t0028 a0003c0006t0011 a0006c0010t0002	a0001c0001t0001g0038 a0001c0002t0001g0022 a0001c0002t0001g0161 others(7): Show a0001c0001t0001g0038 a0001c0002t0001g0022 a0001c0002t0001g0161 a0001c0002t0010g0098 a0001c0004t0035g0106 a0001c0008t0006g0153 a0001c0008t0007g0196 a0002c0033t0028g0207 a0003c0006t0011g0105 a0006c0010t0002g0122	10	230	0.0435	-27	c.-20 others(48): Show c.-209+32786_-209+32812delGTACTGTGTTACATATATACTACA TAT		TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155028459	AATATATA others(20): Show AATATATATACTGTGTTACATATACTAC	A A	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0011 a0011	a0011c0055 a0011c0055	a0011c0055t0001 a0011c0055t0001	a0011c0055t0001g0057 a0011c0055t0001g0057	1	230	0.0044	-27	c.-20 others(48): Show c.-209+32991_-209+33017delCTACATATATATACTGTGTTACAT ATA		TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155172670	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 NA19001.hp2 others(1): Show HG03490.hp1 HG03492.hp2 NA19001.hp2 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0016 a0001c0002t0001g0044 a0001c0002t0001g0058 others(1): Show a0001c0002t0001g0016 a0001c0002t0001g0044 a0001c0002t0001g0058 a0001c0002t0003g0101	4	230	0.0174	-27	c.236 others(46): Show c.2362-4144_2362-4118delATATATATATATATATTTTTTTTTTT T		TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	9/26					INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155172672	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	230	0.0044	-27	c.236 others(46): Show c.2362-4142_2362-4116delATATATATATATATTTTTTTTTTTTT T		TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	9/26					INFO_REALIGN_3_PRIME	chr6	TogoVar
TIMM10B_chr11_6476501_6489681	6481370	CACGTCGC others(20): Show CACGTCGCAGATTATAAGGGCGGAGCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	400	0.0025	-27	c.-14 others(36): Show c.-146_-120delACGTCGCAGATTATAAGGGCGGAGCTG		TIMM10B	ENSG00000132286.12	transcript	ENST00000254616.11	protein_coding					130		chr11	TogoVar
TIMM17A_chr1_201950503_201975664	201970345	AATGTGTT others(20): Show AATGTGTTCCAAGTCCTCTGCATAAACG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0170 a0001c0001t0011g0170	1	468	0.0021	-27	c.79 others(36): Show c.796_*822delGTTCCAAGTCCTCTGCATAAACGATGT		TIMM17A	ENSG00000134375.11	transcript	ENST00000367287.5	protein_coding	6/6				796	INFO_REALIGN_3_PRIME	chr1	TogoVar
TINF2_chr14_24234643_24247623	24237172	CCACTGGC others(20): Show CCACTGGCTACCCCCCTTCAGTGGCAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	424	0.0024	-27	c.25 others(38): Show c.2598_*2624delTTTGCCACTGAAGGGGGGTAGCCAGTG		TINF2	ENSG00000092330.19	transcript	ENST00000267415.12	protein_coding					2470		chr14	TogoVar
TIPARP_chr3_156669590_156711770	156702019	CGGTGGTG others(20): Show CGGTGGTGGTGGTGGTGGTGGTGGTGGT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18975.hp1 HG02976.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0156 a0001c0001t0001g0090 a0001c0001t0001g0156	2	352	0.0057	-27	c.124 others(46): Show c.1248-1377_1248-1351delGGTGGTGGTGGTGGTGGTGGTGGTGG T		TIPARP	ENSG00000163659.13	transcript	ENST00000295924.12	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
TKTL1_chrX_154290795_154335350	154328545	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	272	0.0037	-27	c.161 others(44): Show c.1618+608_1618+634delAAAAAAAAAAAAAAAAAAAAAAAAAAA		TKTL1	ENSG00000007350.18	transcript	ENST00000369915.8	protein_coding	12/12					INFO_REALIGN_3_PRIME	chrX	TogoVar

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Search Results (Total: 3848 hits)