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
TBC1D12_chr10_94397541_94541332	94531862	A A	ATGTTATT others(33): Show ATGTTATTTTATTTTATGTTATTTTATTTTATATGTTATGT	intron_variant intron_variant	MODIFIER	HG01928.hp2 NA18973.hp2 NA19005.hp2 others(2): Show HG01928.hp2 NA18973.hp2 NA19005.hp2 NA19010.hp2 NA19054.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0237 a0001c0002t0002g0251 a0001c0002t0002g0255 others(2): Show a0001c0002t0002g0237 a0001c0002t0002g0251 a0001c0002t0002g0255 a0001c0002t0002g0257 a0001c0002t0002g0333	5	346	0.0145	40	c.225 others(57): Show c.2259+403_2259+404insGTTATTTTATTTTATGTTATTTTATTTT ATATGTTATGTT	TBC1D12	ENSG00000108239.9	transcript	ENST00000225235.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
TBC1D13_chr9_128782253_128815430	128789812	T T	TATATATA others(33): Show TATATATATATATATATATATATATATGTATGTATGTATAA	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0130 a0001c0001t0130	a0001c0001t0130g0287 a0001c0001t0130g0287	1	398	0.0025	40	c.98- others(53): Show c.98-922_98-921insTATATATATATATATATATATATATGTATGTA TGTATAAA	TBC1D13	ENSG00000107021.16	transcript	ENST00000372648.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
TBC1D16_chr17_79927343_80040872	79929984	C C	CTCTCCCC others(33): Show CTCTCCCCTCCTCTCCCCTCTCCTCCCCTCCTCTCCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG00639.hp1 others(18): Show HG00544.hp2 HG00609.hp2 HG00639.hp1 HG01081.hp1 HG01496.hp1 HG02129.hp1 HG02486.hp1 HG03491.hp1 HG03710.hp2 HG03834.hp1 HG04184.hp1 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp2 NA18944.hp2 NA18952.hp1 NA18973.hp2 NA19002.hp1 NA20129.hp1 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0014 a0001c0022 a0002c0033 a0003c0011	a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 others(15): Show a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 a0001c0001t0022 a0001c0001t0023 a0001c0001t0062 a0001c0002t0002 a0001c0002t0061 a0001c0004t0006 a0001c0004t0010 a0001c0004t0023 a0001c0004t0072 a0001c0004t0078 a0001c0006t0077 a0001c0014t0115 a0001c0022t0109 a0002c0033t0010 a0003c0011t0015	a0001c0001t0006g0034 a0001c0001t0006g0083 a0001c0001t0006g0123 others(18): Show a0001c0001t0006g0034 a0001c0001t0006g0083 a0001c0001t0006g0123 a0001c0001t0010g0094 a0001c0001t0015g0224 a0001c0001t0022g0026 a0001c0001t0023g0090 a0001c0001t0062g0011 a0001c0002t0002g0174 a0001c0002t0061g0324 a0001c0004t0006g0043 a0001c0004t0010g0241 a0001c0004t0023g0258 a0001c0004t0023g0259 a0001c0004t0072g0037 a0001c0004t0078g0156 a0001c0006t0077g0126 a0001c0014t0115g0214 a0001c0022t0109g0152 a0002c0033t0010g0071 a0003c0011t0015g0199	21	334	0.0629	40	c.10 others(53): Show c.10874_*10875insAGAGGGGAGAGGAGGGGAGGAGAGGGGAGAGG AGGGGAGA	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2358		chr17	TogoVar
TBC1D16_chr17_79927343_80040872	79930040	T T	TCTCCCCT others(33): Show TCTCCCCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00609.hp2 others(26): Show HG00423.hp2 HG00544.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00741.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG02027.hp2 HG02129.hp1 HG02486.hp1 HG02602.hp2 HG03491.hp1 HG03710.hp2 HG03834.hp1 HG04184.hp1 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp2 NA18944.hp2 NA18952.hp1 NA18970.hp2 NA18973.hp2 NA19012.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0014 a0001c0022 a0003c0011	a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 others(19): Show a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 a0001c0001t0022 a0001c0001t0023 a0001c0001t0062 a0001c0002t0001 a0001c0002t0002 a0001c0002t0021 a0001c0002t0061 a0001c0003t0070 a0001c0004t0006 a0001c0004t0021 a0001c0004t0023 a0001c0004t0072 a0001c0004t0078 a0001c0006t0006 a0001c0006t0010 a0001c0006t0077 a0001c0014t0115 a0001c0022t0109 a0003c0011t0015	a0001c0001t0006g0034 a0001c0001t0006g0083 a0001c0001t0006g0123 others(26): Show a0001c0001t0006g0034 a0001c0001t0006g0083 a0001c0001t0006g0123 a0001c0001t0010g0094 a0001c0001t0015g0224 a0001c0001t0015g0232 a0001c0001t0022g0026 a0001c0001t0022g0215 a0001c0001t0023g0090 a0001c0001t0062g0011 a0001c0002t0001g0146 a0001c0002t0002g0174 a0001c0002t0021g0128 a0001c0002t0061g0324 a0001c0003t0070g0015 a0001c0004t0006g0043 a0001c0004t0021g0235 a0001c0004t0023g0258 a0001c0004t0023g0259 a0001c0004t0072g0037 a0001c0004t0078g0156 a0001c0006t0006g0175 a0001c0006t0010g0306 a0001c0006t0010g0307 a0001c0006t0077g0126 a0001c0014t0115g0214 a0001c0022t0109g0152 a0003c0011t0015g0199 a0003c0011t0015g0204	29	334	0.0868	40	c.10 others(53): Show c.10818_*10819insGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAG GAGGGGAG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2302		chr17	TogoVar
TBC1D2B_chr15_77989985_78082711	77990671	G G	GCGCGCGC others(33): Show GCGCGCGCGCGCGCGCGCACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0225 a0002c0003t0001g0225	1	280	0.0036	40	c.74 others(51): Show c.7488_*7489insTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCG CGCGCG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		4313		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992805	T T	TCCCCCCA others(33): Show TCCCCCCACTCCCCCCACTCCCCCCCACTCCCCCCCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 NA19011.hp2 HG00544.hp2 NA19011.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0212 a0002c0003t0001g0223 a0002c0003t0001g0212 a0002c0003t0001g0223	2	280	0.0071	40	c.53 others(51): Show c.5354_*5355insGGAGTGGGGGGGAGTGGGGGGGAGTGGGGGGAGT GGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2179		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	78040855	G G	GAAGAAAG others(33): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0151 a0001c0001t0031g0151	1	280	0.0036	40	c.683 others(57): Show c.683+4044_683+4045insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding	3/12			chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	78040855	G G	GAAGGAAG others(33): Show GAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01123.hp1 others(9): Show HG01069.hp1 HG01071.hp2 HG01123.hp1 HG01123.hp2 HG02135.hp1 HG02486.hp2 HG02523.hp2 HG02683.hp2 HG03704.hp2 NA18747.hp2 NA18945.hp2 NA18991.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0004 a0001c0001t0042 a0001c0001t0043 others(2): Show a0001c0001t0004 a0001c0001t0042 a0001c0001t0043 a0001c0002t0021 a0002c0003t0001	a0001c0001t0004g0171 a0001c0001t0042g0112 a0001c0001t0043g0189 others(9): Show a0001c0001t0004g0171 a0001c0001t0042g0112 a0001c0001t0043g0189 a0001c0002t0021g0059 a0002c0003t0001g0193 a0002c0003t0001g0233 a0002c0003t0001g0234 a0002c0003t0001g0237 a0002c0003t0001g0238 a0002c0003t0001g0239 a0002c0003t0001g0243 a0002c0003t0001g0248	12	280	0.0429	40	c.683 others(57): Show c.683+4044_683+4045insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTCCTT	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding	3/12			chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	78040855	G G	GAAGGAAG others(33): Show GAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG03579.hp2 HG02027.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0012 a0002c0003t0045 a0001c0001t0012 a0002c0003t0045	a0001c0001t0012g0181 a0002c0003t0045g0268 a0001c0001t0012g0181 a0002c0003t0045g0268	2	280	0.0071	40	c.683 others(57): Show c.683+4044_683+4045insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTCCTTCCTT	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding	3/12			chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	78040855	G G	GAAGGAAG others(33): Show GAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0245 a0002c0003t0001g0245	1	280	0.0036	40	c.683 others(57): Show c.683+4044_683+4045insTCTTTCTTTCTTTCTTTCTTTCTTTCTT CCTTCCTTCCTT	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding	3/12			chr15	TogoVar
TBC1D32_chr6_121074494_121339480	121192066	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA18906.hp2 HG02717.hp1 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0015 a0001c0003t0008 a0001c0003t0015	a0001c0003t0008g0280 a0001c0003t0015g0213 a0001c0003t0008g0280 a0001c0003t0015g0213	2	292	0.0069	40	c.257 others(61): Show c.2570+13008_2570+13009insTATATATATATATATATATATATA TATATATATATATATA	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	22/31			chr6	TogoVar
TBC1D7_chr6_13299951_13333537	13310637	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0084	1	440	0.0023	40	c.520 others(57): Show c.520-2893_520-2892insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	TBC1D7	ENSG00000145979.18	transcript	ENST00000379300.8	protein_coding	5/7			chr6	TogoVar
TBC1D8_chr2_101002228_101156382	101054672	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0305 a0002c0002t0002g0305	1	332	0.0030	40	c.403 others(55): Show c.403-337_403-336insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	TBC1D8	ENSG00000204634.13	transcript	ENST00000409318.2	protein_coding	3/19			chr2	TogoVar
TBC1D9_chr4_140615782_140761385	140712449	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02300.hp2 HG03139.hp2 others(7): Show HG01891.hp2 HG02300.hp2 HG03139.hp2 HG03834.hp2 HG04199.hp2 NA18943.hp1 NA18973.hp1 NA18984.hp1 NA18993.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0002t0013 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0013 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0007t0001	a0001c0001t0001g0208 a0001c0002t0001g0111 a0001c0002t0001g0207 others(7): Show a0001c0001t0001g0208 a0001c0002t0001g0111 a0001c0002t0001g0207 a0001c0002t0013g0252 a0001c0003t0001g0239 a0001c0004t0001g0142 a0001c0006t0001g0255 a0001c0007t0001g0170 a0001c0007t0001g0238 a0001c0007t0001g0254	10	298	0.0336	40	c.131 others(59): Show c.131-10836_131-10835insATATATATATATATATATATATATAT ATATATATATATAT	TBC1D9	ENSG00000109436.8	transcript	ENST00000442267.3	protein_coding	1/20			chr4	TogoVar
TBCD_chr17_82747065_82950914	82764737	T T	TCTCATAG others(33): Show TCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTG	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0106 a0004c0005t0001g0106	1	318	0.0031	40	c.333 others(55): Show c.333+954_333+993dupTGCTCATAGTCTGCTTTTCTTACAAGCTTG CGGGTGTCTG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	3/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82764895	G G	GTGTGCTC others(33): Show GTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0003 a0001c0041t0003	a0001c0041t0003g0133 a0001c0041t0003g0133	1	318	0.0031	40	c.333 others(55): Show c.333+835_333+836insTGCTCATAGTCTGCTTTTCTTACAAGCTTG CGGGTGTCTG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	3/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82886635	T T	TCTCCCCT others(33): Show TCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01243.hp2 HG01516.hp2 others(6): Show HG00673.hp1 HG01243.hp2 HG01516.hp2 HG06807.hp2 NA18939.hp1 NA18944.hp2 NA19007.hp2 NA19065.hp1 NA19080.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0017 others(1): Show a0001c0001 a0001c0002 a0001c0017 a0010c0033	a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0017t0003 a0010c0033t0006	a0001c0001t0002g0040 a0001c0001t0002g0060 a0001c0001t0002g0069 others(6): Show a0001c0001t0002g0040 a0001c0001t0002g0060 a0001c0001t0002g0069 a0001c0001t0002g0073 a0001c0001t0006g0062 a0001c0001t0006g0064 a0001c0002t0001g0247 a0001c0017t0003g0057 a0010c0033t0006g0090	9	318	0.0283	40	c.153 others(59): Show c.1533+2459_1533+2498dupCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCC	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	15/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCEL_chr11_121019102_121095776	121021461	A A	AGGTGACA others(33): Show AGGTGACAGCGTGCTGGCAGTGGTGACAGCGTGCTGGCAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0186 a0001c0001t0003g0186	1	264	0.0038	40	c.-29 others(51): Show c.-2956_-2955insGGTGACAGCGTGCTGGCAGTGGTGACAGCGTGCT GGCAGT	TBCEL	ENSG00000154114.13	transcript	ENST00000683345.1	protein_coding		2640		chr11	TogoVar
TBCE_chr1_235362427_235457443	235412193	C C	CCCCTCCC others(33): Show CCCCTCCCCTCCCCCTCCCCTGCCCTCCCCTCCCTTCCCCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0035 a0001c0005t0035	a0001c0005t0035g0260 a0001c0005t0035g0260	1	268	0.0037	40	c.186 others(57): Show c.186-2237_186-2236insTCCCCTCCCCCTCCCCTGCCCTCCCCTC CCTTCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBL1XR1_chr3_177014344_177202482	177112107	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	306	0.0033	40	c.-12 others(61): Show c.-121-13567_-121-13566insAAAAAAAAAAAAAATATATATATA TATATATATATATATA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177189649	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0183 a0001c0001t0039g0183	1	306	0.0033	40	c.-12 others(59): Show c.-122+7471_-122+7472insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBPL1_chr6_133948224_133995432	133987660	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0028 a0001c0001t0039g0028	1	330	0.0030	40	c.62 others(49): Show c.627_*628insATATATATATATATATATATATATATATATATGTAT ATAT	TBPL1	ENSG00000028839.10	transcript	ENST00000237264.9	protein_coding	7/7	628	INFO_REALIGN_3_PRIME	chr6	TogoVar
TBX19_chr1_168275877_168319426	168298818	C C	CCTCCCTC others(33): Show CCTCCCTCCCTCCCTCCCTTCCTTTCCTTCCTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0370 a0001c0001t0002g0370	1	382	0.0026	40	c.665 others(57): Show c.665+1035_665+1036insCCCTCCCTCCCTCCCTTCCTTTCCTTCC TTCTTTCTTTCT	TBX19	ENSG00000143178.13	transcript	ENST00000367821.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBX19_chr1_168275877_168319426	168298822	C C	CCTCCCTC others(33): Show CCTCCCTCCCTCCCTCCCTCCCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	382	0.0026	40	c.665 others(57): Show c.665+1039_665+1040insCCCTCCCTCCCTCCCTCCCTCTCTCTCT CTCTCTCTCTCT	TBX19	ENSG00000143178.13	transcript	ENST00000367821.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBX20_chr7_35197430_35259100	35201030	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	1	302	0.0033	40	c.13 others(51): Show c.1399_*1400insATATATATATATATATATATATATATATATATAT ATATAT	TBX20	ENSG00000164532.11	transcript	ENST00000408931.4	protein_coding		1399		chr7	TogoVar
TBX2_chr17_61394843_61414466	61402971	A A	AGAGAGAG others(33): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0136 a0001c0003t0011g0136	1	438	0.0023	40	c.664 others(53): Show c.664-90_664-89insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGG AGAGAGAG	TBX2	ENSG00000121068.14	transcript	ENST00000240328.4	protein_coding	2/6			chr17	TogoVar
TBX2_chr17_61394843_61414466	61414250	G G	GTTTTAGG others(33): Show GTTTTAGGGGGTATTGGGGTTTTGGTGTAGGGTTGGGGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0083	1	438	0.0023	40	c.57 others(51): Show c.5744_*5745insTTTTAGGGGGTATTGGGGTTTTGGTGTAGGGTTG GGGGTT	TBX2	ENSG00000121068.14	transcript	ENST00000240328.4	protein_coding		4785		chr17	TogoVar
TBXAS1_chr7_139824264_140025293	139905073	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTTTCTTTCTCTTTCTCCCTCTCTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02895.hp1 HG02976.hp2 HG02717.hp1 HG02895.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0108 a0001c0001t0001g0133 a0001c0001t0001g0011 a0001c0001t0001g0108 a0001c0001t0001g0133	3	270	0.0111	40	c.237 others(57): Show c.237-6149_237-6148insCTCTCTCTCTCTCTTTCTTTCTCTTTCT CCCTCTCTTTCT	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TBXAS1_chr7_139824264_140025293	139984636	G G	GAGAAAGA others(33): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAACAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	270	0.0037	40	c.113 others(61): Show c.1134+22406_1134+22407insAAGAAAGAAAGAAAGAAAGAAAGA AACAAAGAAAGAAAGA	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TBXAS1_chr7_139824264_140025293	139984636	G G	GAGGGAGA others(33): Show GAGGGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA18979.hp2 NA19030.hp2 HG01981.hp1 NA18979.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0064 a0001c0001t0001g0201 a0001c0001t0001g0042 a0001c0001t0001g0064 a0001c0001t0001g0201	3	270	0.0111	40	c.113 others(61): Show c.1134+22405_1134+22406insGGAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAG	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TC2N_chr14_91774746_91872536	91836577	A A	AGGCGAGG others(33): Show AGGCGAGGCAAGGCGGGGAGGGGCGAGGCAAGGCGGGGAGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00423.hp1 others(47): Show HG00099.hp1 HG00140.hp1 HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00609.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01975.hp1 HG01978.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG02572.hp1 HG02622.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02818.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03704.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04204.hp2 NA18522.hp2 NA18747.hp1 NA18947.hp1 NA18960.hp1 NA18968.hp2 NA18970.hp2 NA18975.hp2 NA18988.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19009.hp2 NA19057.hp2 NA19083.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0027 a0001c0001t0032 a0001c0001t0037 a0001c0002t0001 a0003c0004t0001 a0003c0004t0002	a0001c0001t0001g0014 a0001c0001t0001g0045 a0001c0001t0002g0214 others(46): Show a0001c0001t0001g0014 a0001c0001t0001g0045 a0001c0001t0002g0214 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0254 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0064 a0001c0001t0003g0167 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0174 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0188 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0006g0061 a0001c0001t0006g0062 a0001c0001t0006g0065 a0001c0001t0008g0084 a0001c0001t0012g0319 a0001c0001t0012g0320 a0001c0001t0012g0321 a0001c0001t0027g0074 a0001c0001t0032g0192 a0001c0001t0037g0317 a0001c0002t0001g0122 a0003c0004t0001g0070 a0003c0004t0002g0282 a0003c0004t0002g0283	50	344	0.1454	40	c.-56 others(59): Show c.-56-22792_-56-22753dupCCTCCCCGCCTTGCCTCGCCCCTCCC CGCCTTGCCTCGCC	TC2N	ENSG00000165929.13	transcript	ENST00000435962.7	protein_coding	1/11			chr14	TogoVar
TCF12_chr15_56913644_57294853	56984014	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	330	0.0030	40	c.148 others(59): Show c.148+62918_148+62919insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAGAA	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TCF12_chr15_56913644_57294853	57075800	T T	TTCTCTCT others(33): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0214 a0001c0001t0003g0214	1	330	0.0030	40	c.222 others(59): Show c.222+11980_222+11981insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCT	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TCF12_chr15_56913644_57294853	57075804	T T	TTCTTTCT others(33): Show TTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0147 a0001c0004t0005g0147	1	330	0.0030	40	c.222 others(59): Show c.222+11984_222+11985insTTCTTTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCT	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TCF12_chr15_56913644_57294853	57075835	T T	TTTTCTTT others(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00738.hp1 HG01081.hp1 others(2): Show HG00621.hp1 HG00738.hp1 HG01081.hp1 HG02129.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0220 a0001c0001t0002g0238 a0001c0001t0002g0291 others(2): Show a0001c0001t0002g0220 a0001c0001t0002g0238 a0001c0001t0002g0291 a0001c0001t0002g0294 a0001c0001t0006g0124	5	330	0.0152	40	c.222 others(59): Show c.222+12040_222+12041insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTC	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TCF12_chr15_56913644_57294853	57275327	G G	GGGGGGGG others(33): Show GGGGGGGGGGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0326 a0001c0001t0011g0326	1	330	0.0030	40	c.197 others(59): Show c.1978+2066_1978+2067insGGGGGGGGGGGGTGTGTGTGTGTGTG TGTGTGTGTGTGTG	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TCF20_chr22_42155013_42275653	42219355	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA19011.hp2 HG03239.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0185 a0001c0001t0001g0160 a0001c0001t0001g0185	2	355	0.0056	40	c.-36 others(57): Show c.-36-4015_-36-4014insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	TCF20	ENSG00000100207.21	transcript	ENST00000677622.1	protein_coding	1/5			chr22	TogoVar
TCF25_chr16_89868592_89916379	89869053	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	300	0.0033	40	c.-46 others(51): Show c.-4615_-4614insAAAAAAAAAAAAATATATATATATATATATATAT ATATAT	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding		4538		chr16	TogoVar
TCF25_chr16_89868592_89916379	89869053	A A	AAAAAAAA others(33): Show AAAAAAAAAAAATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19066.hp2 NA19000.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0224 a0001c0001t0001g0225	2	300	0.0067	40	c.-46 others(51): Show c.-4615_-4614insAAAAAAAAAAATATATATATATATATATATATAT ATATAT	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding		4538		chr16	TogoVar
TCF25_chr16_89868592_89916379	89869053	A A	AAAAAAAA others(33): Show AAAAAAAAAATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	300	0.0033	40	c.-46 others(51): Show c.-4615_-4614insAAAAAAAAATATATATATATATATATATATATAT ATATAT	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding		4538		chr16	TogoVar
TCF25_chr16_89868592_89916379	89869053	A A	AAAAAAAA others(33): Show AAAAAAAATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA19070.hp1 NA18943.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0204 a0001c0001t0001g0193 a0001c0001t0001g0204	2	300	0.0067	40	c.-46 others(51): Show c.-4615_-4614insAAAAAAATATATATATATATATATATATATATAT ATATAT	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding		4538		chr16	TogoVar
TCF25_chr16_89868592_89916379	89869053	A A	AAAAAATA others(33): Show AAAAAATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	300	0.0033	40	c.-46 others(51): Show c.-4615_-4614insAAAAATATATATATATATATATATATATATATAT ATATAT	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding		4538		chr16	TogoVar
TCF25_chr16_89868592_89916379	89912392	A A	ACCACGTT others(33): Show ACCACGTTCTGAAGATCGAGAACAAACAAACAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	300	0.0033	40	c.11 others(51): Show c.1154_*1155insCCACGTTCTGAAGATCGAGAACAAACAAACAAAA AAAAAT	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding		1014		chr16	TogoVar
TCF7L1_chr2_85128392_85315387	85299860	A A	AACACACA others(33): Show AACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA18973.hp2 HG02717.hp1 NA18973.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0198 a0002c0002t0002g0058 a0001c0001t0001g0198 a0002c0002t0002g0058	2	236	0.0085	40	c.526 others(57): Show c.526-2619_526-2580dupACACACACACACACACACACACACACAC ACACACACACAC	TCF7L1	ENSG00000152284.5	transcript	ENST00000282111.4	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TCF7L1_chr2_85128392_85315387	85308417	T T	TTCCCTCC others(33): Show TTCCCTCCCTCCTTTTCTCCCTCCCTTCCTTTCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp2 HG02809.hp2 others(4): Show HG02109.hp1 HG02572.hp2 HG02809.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0230 a0002c0002t0001g0009 a0002c0002t0001g0030 others(4): Show a0001c0001t0001g0230 a0002c0002t0001g0009 a0002c0002t0001g0030 a0002c0002t0001g0034 a0002c0002t0001g0061 a0002c0002t0001g0087 a0002c0002t0003g0084	7	236	0.0297	40	c.133 others(57): Show c.1334-586_1334-585insCCTTTCTCCCTCCCTCCCTCCCTCCTTT TCTCCCTCCCTT	TCF7L1	ENSG00000152284.5	transcript	ENST00000282111.4	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TCF7L2_chr10_112945247_113172678	112966184	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0119 a0001c0001t0013g0119	1	200	0.0050	40	c.450 others(57): Show c.450+1587_450+1588insATATATATATATATATATATATATATAT ATATATATATAT	TCF7L2	ENSG00000148737.18	transcript	ENST00000355995.9	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
TCHHL1_chr1_152079141_152094064	152082756	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01167.hp1 HG01169.hp1 others(10): Show HG00735.hp2 HG01167.hp1 HG01169.hp1 HG01258.hp1 HG02074.hp2 HG02148.hp2 HG02559.hp2 HG02922.hp2 HG03486.hp1 NA18960.hp1 NA19006.hp1 NA19011.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0002g0003 a0001c0001t0005g0018 others(1): Show a0001c0001t0001g0001 a0001c0001t0002g0003 a0001c0001t0005g0018 a0002c0002t0001g0002	13	376	0.0346	40	c.22 others(51): Show c.2210_*2211insATATATATATATATATATATATATATATATATAT ATATAT	TCHHL1	ENSG00000182898.4	transcript	ENST00000368806.2	protein_coding		1384		chr1	TogoVar
TCN2_chr22_30602174_30632271	30623921	T T	TGTATACA others(33): Show TGTATACATATATACACACATATGTATACATATACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0232 a0003c0003t0004g0232	1	466	0.0022	40	c.122 others(57): Show c.1222+838_1222+839insGTATACATATATACACACATATGTATAC ATATACACACAC	TCN2	ENSG00000185339.10	transcript	ENST00000215838.8	protein_coding	8/8			chr22	TogoVar
TCP11X2_chrX_102455315_102476812	102475138	A A	AGGAACCG others(33): Show AGGAACCGACCCGCTTAACTATAAAAAACAAAAAATCCGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0023	1	137	0.0073	40	c.-33 others(51): Show c.-3378_-3377insGTCGGATTTTTTGTTTTTTATAGTTAAGCGGGTC GGTTCC	TCP11X2	ENSG00000215029.12	transcript	ENST00000642911.3	protein_coding		3327		chrX	TogoVar
TCTN3_chr10_95658401_95698927	95672160	T T	TTGTGTGT others(33): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01074.hp2 HG01123.hp1 others(6): Show HG00741.hp2 HG01074.hp2 HG01123.hp1 HG01168.hp1 HG01346.hp2 HG01928.hp2 HG01943.hp1 HG02273.hp2 HG03225.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0007c0008 a0001c0002 a0007c0008	a0001c0002t0002 a0007c0008t0001 a0001c0002t0002 a0007c0008t0001	a0001c0002t0002g0021 a0001c0002t0002g0078 a0001c0002t0002g0081 others(5): Show a0001c0002t0002g0021 a0001c0002t0002g0078 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0086 a0001c0002t0002g0102 a0001c0002t0002g0109 a0007c0008t0001g0141	9	400	0.0225	40	c.159 others(59): Show c.1591-7861_1591-7860insCACACACACACACACACACACACACA CACACACACACACA	TCTN3	ENSG00000119977.22	transcript	ENST00000371217.10	protein_coding	13/13			chr10	TogoVar

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Search Results (Total: 6641 hits)