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
TSPEAR_chr21_44492893_44716572	44604720	G G	GGGCTGTC others(29): Show GGGCTGTCATGCTACCTCTCTTCCGCTCTCCTCTCTC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	294	0.0034	36	c.83- others(53): Show c.83-36716_83-36715insGAGAGAGGAGAGCGGAAGAGAGGTAGCA TGACAGCC		TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	1/11						chr21	TogoVar
TSPEAR_chr21_44492893_44716572	44689708	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	294	0.0034	36	c.82+ others(53): Show c.82+21724_82+21725insATATATATATATATATATATATATATAT ATATATAT		TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	1/11						chr21	TogoVar
TSPEAR_chr21_44492893_44716572	44712176	G G	GGGTGGGG others(29): Show GGGTGGGGGGTCCAGGCGGCAGGTCCTGGGCTCTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00558.hp1 HG00642.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01255.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18977.hp1 NA18977.hp2 NA19005.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19060.hp1 NA19064.hp1 NA19080.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0008	a0001c0001 a0001c0002 a0001c0007 others(6): Show a0001c0001 a0001c0002 a0001c0007 a0001c0013 a0001c0015 a0001c0017 a0003c0005 a0007c0014 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0021 a0001c0002t0008 a0001c0007t0020 a0001c0013t0002 a0001c0015t0001 a0001c0017t0001 a0003c0005t0001 a0007c0014t0001 a0008c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(111): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0049 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0083 a0001c0001t0001g0097 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0144 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0290 a0001c0001t0002g0258 a0001c0001t0002g0266 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0013 a0001c0001t0003g0224 a0001c0001t0003g0237 a0001c0001t0003g0239 a0001c0001t0003g0241 a0001c0001t0003g0247 a0001c0001t0003g0287 a0001c0001t0003g0293 a0001c0001t0004g0031 a0001c0001t0004g0217 a0001c0001t0005g0006 a0001c0001t0005g0028 a0001c0001t0005g0125 a0001c0001t0005g0236 a0001c0001t0005g0246 a0001c0001t0006g0264 a0001c0001t0006g0265 a0001c0001t0007g0009 a0001c0001t0007g0292 a0001c0001t0009g0234 a0001c0001t0021g0270 a0001c0002t0008g0121 a0001c0002t0008g0215 a0001c0007t0020g0012 a0001c0013t0002g0233 a0001c0015t0001g0099 a0001c0017t0001g0195 a0003c0005t0001g0294 a0007c0014t0001g0275 a0008c0008t0001g0010	114	294	0.3878	36	c.-66 others(45): Show c.-663_-662insGGCAGAGCCCAGGACCTGCCGCCTGGACCCCCCACC		TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding					605		chr21	TogoVar
TSPO_chr22_43146559_43168242	43157271	A A	AGGGCGGG others(29): Show AGGGCGGGGCAGGAGGGCGGGGCGGGGCAGGAGGGCG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG02257.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	2	400	0.0050	36	c.-29 others(53): Show c.-29-1905_-29-1904insCGGGGCGGGGCAGGAGGGCGGGGCGGGG CAGGAGGG		TSPO	ENSG00000100300.18	transcript	ENST00000337554.8	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr22	TogoVar
TSR1_chr17_2317396_2341457	2338774	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG02135.hp2 HG01361.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0001 a0002c0002t0002g0188 a0002c0002t0001g0001 a0002c0002t0002g0188	2	408	0.0049	36	c.-23 others(47): Show c.-2348_-2347insATATATATATATATATATATATATATATATATAT AT		TSR1	ENSG00000167721.11	transcript	ENST00000301364.10	protein_coding					2318		chr17	TogoVar
TSSK4_chr14_24200696_24213248	24200998	G G	GTTTTTTT others(29): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG02129.hp2 HG02486.hp1 others(5): Show HG00323.hp2 HG02129.hp2 HG02486.hp1 HG04204.hp2 HG04228.hp1 NA18975.hp1 NA19005.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0002 a0001c0001t0001g0003	8	428	0.0187	36	c.-49 others(47): Show c.-4926_-4925insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		TSSK4	ENSG00000139908.15	transcript	ENST00000339917.10	protein_coding					4697		chr14	TogoVar
TTBK2_chr15_42733730_42925778	42763106	A A	ATATATAT others(29): Show ATATATATATATATATATGTATATATATATATATACG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18986.hp1 NA18951.hp2 NA18986.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0010 a0003c0003t0004 a0003c0003t0010	a0003c0003t0004g0102 a0003c0003t0010g0099 a0003c0003t0004g0102 a0003c0003t0010g0099	2	248	0.0081	36	c.199 others(55): Show c.1999-9860_1999-9859insCGTATATATATATATATACATATATA TATATATATA		TTBK2	ENSG00000128881.18	transcript	ENST00000267890.11	protein_coding	13/14						chr15	TogoVar
TTC17_chr11_43353920_43499931	43462921	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	298	0.0034	36	c.303 others(57): Show c.3030+11668_3030+11669insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT		TTC17	ENSG00000052841.16	transcript	ENST00000039989.9	protein_coding	21/23					INFO_REALIGN_3_PRIME	chr11	TogoVar
TTC21B_chr2_165868362_165958776	165914655	A A	ATGTGTGT others(29): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0157 a0002c0002t0001g0157	1	408	0.0025	36	c.213 others(53): Show c.2138+545_2138+546insCACACACACACACACACACACACACACA CACACACA		TTC21B	ENSG00000123607.16	transcript	ENST00000243344.8	protein_coding	15/28						chr2	TogoVar
TTC21B_chr2_165868362_165958776	165914657	C C	CTGTGTGT others(29): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18940.hp2 HG00544.hp1 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0325 a0001c0001t0003g0177 a0001c0001t0001g0325 a0001c0001t0003g0177	2	408	0.0049	36	c.213 others(53): Show c.2138+508_2138+543dupCACACACACACACACACACACACACACA CACACACA		TTC21B	ENSG00000123607.16	transcript	ENST00000243344.8	protein_coding	15/28						chr2	TogoVar
TTC21B_chr2_165868362_165958776	165914680	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGTACGTGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp2 HG01167.hp2 others(16): Show HG00735.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG02074.hp1 HG02080.hp2 HG02155.hp1 HG02622.hp2 HG03209.hp1 HG03704.hp2 NA18947.hp2 NA18951.hp2 NA18975.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18989.hp1 NA19000.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0004t0003	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0018 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0064 a0001c0001t0002g0054 a0001c0001t0004g0030 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0065 a0001c0004t0003g0093 a0001c0004t0003g0098	19	408	0.0466	36	c.213 others(53): Show c.2138+520_2138+521insGCGCGCGCGCGCACGTACACACACACAC ACACACAC		TTC21B	ENSG00000123607.16	transcript	ENST00000243344.8	protein_coding	15/28						chr2	TogoVar
TTC21B_chr2_165868362_165958776	165914682	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0001 a0009c0015t0001	a0009c0015t0001g0391 a0009c0015t0001g0391	1	408	0.0025	36	c.213 others(53): Show c.2138+518_2138+519insGCGCGCGCGCGCGCGCGCACACACACAC ACACACAC		TTC21B	ENSG00000123607.16	transcript	ENST00000243344.8	protein_coding	15/28						chr2	TogoVar
TTC21B_chr2_165868362_165958776	165947169	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01255.hp1 HG02080.hp2 others(10): Show HG00609.hp1 HG01255.hp1 HG02080.hp2 HG02630.hp2 HG02683.hp1 HG03098.hp1 HG03486.hp1 HG03540.hp1 HG03942.hp1 NA18989.hp2 NA19068.hp1 NA19085.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0020	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 others(10): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0174 a0001c0001t0001g0345 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0005g0043 a0001c0001t0005g0096 a0001c0001t0020g0011	13	408	0.0319	36	c.263 others(53): Show c.263-1480_263-1479insATATATATATATATATATATATATATAT ATATATAT		TTC21B	ENSG00000123607.16	transcript	ENST00000243344.8	protein_coding	3/28						chr2	TogoVar
TTC23_chr15_99131323_99254581	99148360	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0177 a0001c0001t0017g0177	1	368	0.0027	36	c.114 others(55): Show c.1143+7787_1143+7788insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT		TTC23	ENSG00000103852.13	transcript	ENST00000394132.7	protein_coding	12/13						chr15	TogoVar
TTC27_chr2_32623050_32826051	32723728	C C	CTCCCTCC others(29): Show CTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03540.hp1 HG02257.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0013 a0002c0003t0002g0057 a0001c0001t0001g0013 a0002c0003t0002g0057	2	324	0.0062	36	c.123 others(57): Show c.1234-10097_1234-10096insCTCCCTCCCTCCCTCCCTCCCTCC TTCCTTCCTTCC		TTC27	ENSG00000018699.13	transcript	ENST00000317907.9	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr2	TogoVar
TTC27_chr2_32623050_32826051	32723728	C C	CTCCCTCC others(29): Show CTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA19030.hp1 HG02055.hp2 NA19030.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0249 a0002c0003t0002g0250 a0002c0003t0002g0249 a0002c0003t0002g0250	2	324	0.0062	36	c.123 others(57): Show c.1234-10097_1234-10096insCTCCCTCCCTCCCTCCCTCCTTCC TTCCTTCCTTCC		TTC27	ENSG00000018699.13	transcript	ENST00000317907.9	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr2	TogoVar
TTC27_chr2_32623050_32826051	32723728	C C	CTCCCTCC others(29): Show CTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03471.hp2 HG02886.hp2 HG03471.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0121 a0002c0003t0002g0251 a0002c0003t0002g0121 a0002c0003t0002g0251	2	324	0.0062	36	c.123 others(57): Show c.1234-10097_1234-10096insCTCCCTCCCTCCCTCCTTCCTTCC TTCCTTCCTTCC		TTC27	ENSG00000018699.13	transcript	ENST00000317907.9	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr2	TogoVar
TTC27_chr2_32623050_32826051	32723728	C C	CTCCCTCC others(29): Show CTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0259 a0001c0002t0001g0259	1	324	0.0031	36	c.123 others(57): Show c.1234-10097_1234-10096insCTCCCTCCCTCCTTCCTTCCTTCC TTCCTTCCTTCC		TTC27	ENSG00000018699.13	transcript	ENST00000317907.9	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr2	TogoVar
TTC27_chr2_32623050_32826051	32723728	C C	CTCCCTCC others(29): Show CTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0277 a0002c0003t0002g0277	1	324	0.0031	36	c.123 others(57): Show c.1234-10097_1234-10096insCTCCCTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCC		TTC27	ENSG00000018699.13	transcript	ENST00000317907.9	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr2	TogoVar
TTC27_chr2_32623050_32826051	32723728	C C	CTCCCTCC others(29): Show CTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA19062.hp2 NA18942.hp2 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0067 a0001c0002t0001g0036 a0001c0002t0001g0067	2	324	0.0062	36	c.123 others(57): Show c.1234-10097_1234-10096insCTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCC		TTC27	ENSG00000018699.13	transcript	ENST00000317907.9	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr2	TogoVar
TTC28_chr22_27973014_28684840	28371590	A A	ATTTTTTT others(29): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02165.hp2 HG03669.hp2 others(1): Show HG01074.hp1 HG02165.hp2 HG03669.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0013 a0001c0002t0007 a0001c0002t0031 others(1): Show a0001c0001t0013 a0001c0002t0007 a0001c0002t0031 a0001c0004t0001	a0001c0001t0013g0125 a0001c0002t0007g0110 a0001c0002t0031g0132 others(1): Show a0001c0001t0013g0125 a0001c0002t0007g0110 a0001c0002t0031g0132 a0001c0004t0001g0128	4	196	0.0204	36	c.382 others(55): Show c.382-64948_382-64947insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA		TTC28	ENSG00000100154.15	transcript	ENST00000397906.7	protein_coding	2/22						chr22	TogoVar
TTC28_chr22_27973014_28684840	28670704	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG03017.hp2 HG03490.hp1 others(3): Show HG01943.hp1 HG03017.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp2 NA20805.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0150 a0001c0003t0002g0154 a0001c0003t0002g0157 others(3): Show a0001c0003t0002g0150 a0001c0003t0002g0154 a0001c0003t0002g0157 a0001c0003t0002g0159 a0001c0003t0002g0162 a0001c0003t0002g0164	6	196	0.0306	36	c.102 others(53): Show c.102+8917_102+8918insATATATATATATATATATATATATATAT ATATATAT		TTC28	ENSG00000100154.15	transcript	ENST00000397906.7	protein_coding	1/22						chr22	TogoVar
TTC29_chr4_146701617_146950864	146708308	T T	TTATATAT others(29): Show TTATATATATATATATATATACATGTATGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0003	a0005c0006t0003g0289 a0005c0006t0003g0289	1	292	0.0034	36	c.133 others(53): Show c.1331-758_1331-757insTACACACACATACATGTATATATATATA TATATATA		TTC29	ENSG00000137473.19	transcript	ENST00000325106.9	protein_coding	11/12						chr4	TogoVar
TTC29_chr4_146701617_146950864	146708340	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATACATGTGTG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	292	0.0034	36	c.133 others(53): Show c.1331-790_1331-789insCACACATGTATATATATATATATATATA TATATATA		TTC29	ENSG00000137473.19	transcript	ENST00000325106.9	protein_coding	11/12						chr4	TogoVar
TTC39B_chr9_15158622_15312216	15266255	T T	TTAAAAAA others(29): Show TTAAAAAAATCCCAATCACAATTAAGTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0175 a0001c0001t0175	a0001c0001t0175g0181 a0001c0001t0175g0181	1	262	0.0038	36	c.77+ others(51): Show c.77+1658_77+1659insTAAAAAAAAAACTTAATTGTGATTGGGATT TTTTTA		TTC39B	ENSG00000155158.20	transcript	ENST00000512701.7	protein_coding	2/19						chr9	TogoVar
TTC5_chr14_20281227_20310951	20300143	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA19076.hp2 NA19078.hp2 NA18978.hp2 NA19076.hp2 NA19078.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0044 a0002c0004t0004g0091 a0002c0004t0004g0044 a0002c0004t0004g0091	3	416	0.0072	36	c.396 others(51): Show c.396+463_396+464insTATATATATATATATATATATATATATATA TATATA		TTC5	ENSG00000136319.12	transcript	ENST00000258821.8	protein_coding	3/9						chr14	TogoVar
TTC5_chr14_20281227_20310951	20300143	G G	GTATGTGT others(29): Show GTATGTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0078 a0001c0002t0017g0078	1	416	0.0024	36	c.396 others(51): Show c.396+463_396+464insTATATATATATATATATATATATATACACA CACATA		TTC5	ENSG00000136319.12	transcript	ENST00000258821.8	protein_coding	3/9						chr14	TogoVar
TTC7B_chr14_90519564_90821430	90780470	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02683.hp1 NA20805.hp1 HG02683.hp1 NA20805.hp1	a0001 a0001	a0001c0006 a0001c0007 a0001c0006 a0001c0007	a0001c0006t0022 a0001c0007t0033 a0001c0006t0022 a0001c0007t0033	a0001c0006t0022g0147 a0001c0007t0033g0042 a0001c0006t0022g0147 a0001c0007t0033g0042	2	200	0.0100	36	c.445 others(51): Show c.445+267_445+268insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT		TTC7B	ENSG00000165914.15	transcript	ENST00000328459.11	protein_coding	3/19						chr14	TogoVar
TTF2_chr1_117055326_117112453	117089260	C C	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0067 a0001c0002t0003g0067	1	328	0.0031	36	c.234 others(53): Show c.2342+295_2342+296insATATATATATATATATATATATATATAT ATATATAT		TTF2	ENSG00000116830.12	transcript	ENST00000369466.9	protein_coding	13/22					INFO_REALIGN_3_PRIME	chr1	TogoVar
TTI2_chr8_33493722_33518135	33517182	C C	CGGGGGGG others(29): Show CGGGGGGGGGGGGGGGGAGGGGGGGAGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0058 a0002c0003t0001g0058	1	398	0.0025	36	c.-42 others(47): Show c.-4201_-4200insCCCCCCCCCCCTCCCCCCCTCCCCCCCCCCCCCC CC		TTI2	ENSG00000129696.13	transcript	ENST00000431156.7	protein_coding					4048		chr8	TogoVar
TTLL11_chr9_121810674_122098308	121826511	A A	ATGTATAT others(29): Show ATGTATATATATGTGTGTGTGTATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02809.hp2 others(2): Show HG02109.hp1 HG02258.hp1 HG02809.hp2 NA19043.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0005 a0001c0001t0013 a0003c0002t0005 a0001c0001t0005 a0001c0001t0013 a0003c0002t0005	a0001c0001t0005g0085 a0001c0001t0005g0136 a0001c0001t0013g0138 others(2): Show a0001c0001t0005g0085 a0001c0001t0005g0136 a0001c0001t0013g0138 a0003c0002t0005g0169 a0003c0002t0005g0170	5	174	0.0287	36	c.184 others(55): Show c.1841-3633_1841-3632insCACATATATATATATACACACACACA TATATATACA		TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	8/8						chr9	TogoVar
TTLL11_chr9_121810674_122098308	121899378	C C	CATATATA others(29): Show CATATATATATATATATATATATATATACATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0121 a0001c0001t0006g0121	1	174	0.0058	36	c.148 others(57): Show c.1482-28631_1482-28630insATATATATGTATATATATATATAT ATATATATATAT		TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	6/8						chr9	TogoVar
TTLL5_chr14_75656246_75960079	75874933	C C	CCTTTTTT others(29): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0161 a0001c0002t0001g0161	1	198	0.0051	36	c.352 others(55): Show c.3523-7752_3523-7751insCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT		TTLL5	ENSG00000119685.20	transcript	ENST00000298832.14	protein_coding	29/31						chr14	TogoVar
TTLL5_chr14_75656246_75960079	75914033	A A	AAAAAAAA others(29): Show AAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA19043.hp1 HG03017.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0095 a0001c0002t0001g0084 a0001c0002t0001g0095	2	198	0.0101	36	c.382 others(57): Show c.3823+11810_3823+11811insAAAAAAAAAATATATATATATATA TATATATATATA		TTLL5	ENSG00000119685.20	transcript	ENST00000298832.14	protein_coding	31/31					INFO_REALIGN_3_PRIME	chr14	TogoVar
TTLL5_chr14_75656246_75960079	75914033	A A	AAAAAATA others(29): Show AAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0174 a0001c0002t0001g0174	1	198	0.0051	36	c.382 others(57): Show c.3823+11810_3823+11811insAAAATATATATATATATATATATA TATATATATATA		TTLL5	ENSG00000119685.20	transcript	ENST00000298832.14	protein_coding	31/31					INFO_REALIGN_3_PRIME	chr14	TogoVar
TTLL7_chr1_83860024_84004132	83892393	A A	AATATATA others(29): Show AATATATATGAACATATATATGAACATATATATGAAC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0184 a0001c0001t0030g0184	1	302	0.0033	36	c.220 others(55): Show c.2209-1948_2209-1913dupGTTCATATATATGTTCATATATATGT TCATATATAT		TTLL7	ENSG00000137941.17	transcript	ENST00000260505.13	protein_coding	18/20						chr1	TogoVar
TTLL8_chr22_50013575_50063298	50057229	A A	ATCAGGTC others(29): Show ATCAGGTCTGGGTTGAGGGATCAGTTCTAGGTTGGGG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0216 a0002c0002t0001g0216	1	224	0.0045	36	c.-38 others(51): Show c.-38-292_-38-257dupCCCCAACCTAGAACTGATCCCTCAACCCAG ACCTGA		TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	1/13						chr22	TogoVar
TTLL8_chr22_50013575_50063298	50057426	G G	GGGGTCAG others(29): Show GGGGTCAGGTCTGGGTTGTGAGTCAGGTCTGGGTTGT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0139 a0005c0005t0001g0139	1	224	0.0045	36	c.-38 others(51): Show c.-38-454_-38-453insACAACCCAGACCTGACTCACAACCCAGACC TGACCC		TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	1/13						chr22	TogoVar
TTLL9_chr20_31865634_31950000	31890150	C C	CTTCTTTC others(29): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03492.hp2 HG01099.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0142 a0001c0001t0005g0174 a0001c0001t0002g0142 a0001c0001t0005g0174	2	264	0.0076	36	c.113 others(53): Show c.113+2914_113+2915insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC		TTLL9	ENSG00000131044.19	transcript	ENST00000535842.6	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr20	TogoVar
TTLL9_chr20_31865634_31950000	31890154	C C	CTTCCTTC others(29): Show CTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0007 a0001c0001 a0001c0002 a0008c0007	a0001c0001t0005 a0001c0002t0001 a0008c0007t0008 a0001c0001t0005 a0001c0002t0001 a0008c0007t0008	a0001c0001t0005g0179 a0001c0002t0001g0105 a0008c0007t0008g0238 a0001c0001t0005g0179 a0001c0002t0001g0105 a0008c0007t0008g0238	3	264	0.0114	36	c.113 others(53): Show c.113+2918_113+2919insCTTCCTTCCTTCTTTCTTTCTTTCTTTC TTTCTTTC		TTLL9	ENSG00000131044.19	transcript	ENST00000535842.6	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr20	TogoVar
TTLL9_chr20_31865634_31950000	31890154	C C	CTTCCTTC others(29): Show CTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02723.hp1 homoSapiens_chm13v2.hp1 HG02258.hp2 HG02723.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0001 a0001c0002t0004 a0001c0001t0007 a0001c0002t0001 a0001c0002t0004	a0001c0001t0007g0163 a0001c0002t0001g0222 a0001c0002t0004g0176 a0001c0001t0007g0163 a0001c0002t0001g0222 a0001c0002t0004g0176	3	264	0.0114	36	c.113 others(53): Show c.113+2918_113+2919insCTTCCTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC		TTLL9	ENSG00000131044.19	transcript	ENST00000535842.6	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr20	TogoVar
TTLL9_chr20_31865634_31950000	31890154	C C	CTTCCTTC others(29): Show CTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03225.hp1 HG03225.hp2 others(2): Show HG03098.hp1 HG03225.hp1 HG03225.hp2 HG03516.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0003 a0001c0001t0019	a0001c0001t0003g0012 a0001c0001t0003g0137 a0001c0001t0003g0196 others(2): Show a0001c0001t0003g0012 a0001c0001t0003g0137 a0001c0001t0003g0196 a0001c0001t0003g0240 a0001c0001t0019g0111	5	264	0.0189	36	c.113 others(53): Show c.113+2918_113+2919insCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC		TTLL9	ENSG00000131044.19	transcript	ENST00000535842.6	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr20	TogoVar
TTLL9_chr20_31865634_31950000	31890154	C C	CTTCTTTC others(29): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG03486.hp1 NA19074.hp2 HG00544.hp1 HG03486.hp1 NA19074.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0008 a0001c0001 a0001c0002 a0007c0008	a0001c0001t0002 a0001c0002t0001 a0007c0008t0001 a0001c0001t0002 a0001c0002t0001 a0007c0008t0001	a0001c0001t0002g0113 a0001c0002t0001g0190 a0007c0008t0001g0208 a0001c0001t0002g0113 a0001c0002t0001g0190 a0007c0008t0001g0208	3	264	0.0114	36	c.113 others(53): Show c.113+2928_113+2963dupTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT		TTLL9	ENSG00000131044.19	transcript	ENST00000535842.6	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr20	TogoVar
TTN_chr2_178520989_178812423	178654965	T T	TCTTCAGG others(29): Show TCTTCAGGCTTTTTAGGAGGAGGCACTGGCACTGGCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG04184.hp1 HG04184.hp1	a0142 a0142	a0142c0097 a0142c0097	a0142c0097t0001 a0142c0097t0001	a0142c0097t0001g0164 a0142c0097t0001g0164	1	242	0.0041	36	c.380 others(47): Show c.38068_38069insTGCCAGTGCCAGTGCCTCCTCCTAAAAAGCCTGA AG	p.Pro others(53): Show p.Pro12689_Glu12690insValProValProValProProProLysL ysProGlu	TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	190/363	38293/109224	38068/107976	12690/35991			chr2	TogoVar
TTN_chr2_178520989_178812423	178677335	C C	CATATACA others(29): Show CATATACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0009 a0009	a0009c0105 a0009c0105	a0009c0105t0001 a0009c0105t0001	a0009c0105t0001g0167 a0009c0105t0001g0167	1	242	0.0041	36	c.342 others(53): Show c.34292-49_34292-48insATATATATATATATATATATATATATAT ATGTATAT		TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	146/362						chr2	TogoVar
TTN_chr2_178520989_178812423	178677335	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0098 a0098	a0098c0038 a0098c0038	a0098c0038t0001 a0098c0038t0001	a0098c0038t0001g0112 a0098c0038t0001g0112	1	242	0.0041	36	c.342 others(53): Show c.34292-49_34292-48insATATATATATATATATATATATATATAT ATATATAT		TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	146/362						chr2	TogoVar
TTYH2_chr17_74208571_74267020	74219387	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0004 a0010c0013t0004	a0010c0013t0004g0294 a0010c0013t0004g0294	1	352	0.0028	36	c.130 others(53): Show c.130-3082_130-3081insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA		TTYH2	ENSG00000141540.11	transcript	ENST00000269346.9	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
TUBA1B_chr12_49122782_49136395	49123757	A A	ATTTTTTT others(29): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	384	0.0026	36	c.42 others(47): Show c.4200_*4201insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA		TUBA1B	ENSG00000123416.15	transcript	ENST00000336023.9	protein_coding					4024		chr12	TogoVar
TUBGCP4_chr15_43366101_43414771	43370975	A A	ACCCCGGC others(29): Show ACCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 NA18991.hp2 NA19057.hp1 HG02040.hp1 NA18991.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0230 a0001c0001t0002g0289 a0001c0001t0011g0005 a0001c0001t0002g0230 a0001c0001t0002g0289 a0001c0001t0011g0005	3	336	0.0089	36	c.-38 others(45): Show c.-380_-379insCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGG		TUBGCP4	ENSG00000137822.13	transcript	ENST00000564079.6	protein_coding					125		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23016969	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG03239.hp2 HG03704.hp1 HG02080.hp1 HG03239.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0048 a0001c0001t0001g0208 a0001c0010t0001g0049 a0001c0001t0001g0048 a0001c0001t0001g0208 a0001c0010t0001g0049	3	351	0.0086	36	c.175 others(53): Show c.1756+803_1756+804insATATATATATATATATATATATATATAT ATATATAT		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding	13/22						chr15	TogoVar

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Search Results (Total: 8848 hits)