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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Results per page.

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
TG_chr8_132861958_133139899	132892850	TATGTGTG others(18): Show TATGTGTGTGTGGTATGCGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0047 a0047	a0047c0040 a0047c0040	a0047c0040t0001 a0047c0040t0001	a0047c0040t0001g0114 a0047c0040t0001g0114	1	216	0.0046	-25	c.276 others(42): Show c.2762-822_2762-798delGTGTGTGCATGTGTGTGTGGTATGC	TG	ENSG00000042832.12	transcript	ENST00000220616.9	protein_coding	10/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
THAP9_chr4_82895735_82924969	82915239	ATTGTTTT others(18): Show ATTGTTTTGTTTTGTTTTGTTTTGTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	388	0.0026	-25	c.732 others(42): Show c.732-1691_732-1667delTTTTGTTTTGTTTTGTTTTGTTTTG	THAP9	ENSG00000168152.13	transcript	ENST00000302236.10	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
THBS2_chr6_169210785_169258846	169218626	GATGGATG others(18): Show GATGGATGAGATGGATGGTTGGGTGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00609.hp2 others(61): Show HG00408.hp1 HG00423.hp1 HG00609.hp2 HG00639.hp1 HG00733.hp1 HG00738.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01934.hp1 HG02080.hp1 HG02083.hp2 HG02155.hp1 HG02165.hp1 HG02486.hp2 HG02572.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG06807.hp2 NA18522.hp1 NA18944.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp2 NA18959.hp1 NA18964.hp2 NA18968.hp1 NA18977.hp1 NA18978.hp1 NA18982.hp1 NA18983.hp2 NA18995.hp1 NA19004.hp2 NA19030.hp2 NA19064.hp2 NA19070.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0004 a0001c0005 others(8): Show a0001c0001 a0001c0004 a0001c0005 a0001c0007 a0001c0015 a0001c0016 a0001c0018 a0001c0019 a0001c0039 a0005c0049 a0007c0047	a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 others(14): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0014 a0001c0001t0028 a0001c0004t0004 a0001c0004t0030 a0001c0005t0004 a0001c0005t0005 a0001c0007t0004 a0001c0015t0015 a0001c0016t0005 a0001c0018t0005 a0001c0019t0014 a0001c0039t0012 a0005c0049t0004 a0007c0047t0029	a0001c0001t0004g0043 a0001c0001t0004g0054 a0001c0001t0004g0061 others(57): Show a0001c0001t0004g0043 a0001c0001t0004g0054 a0001c0001t0004g0061 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0093 a0001c0001t0004g0097 a0001c0001t0004g0104 a0001c0001t0004g0108 a0001c0001t0004g0130 a0001c0001t0004g0147 a0001c0001t0004g0155 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0005g0102 a0001c0001t0005g0103 a0001c0001t0005g0135 a0001c0001t0005g0150 a0001c0001t0005g0202 a0001c0001t0005g0313 a0001c0001t0005g0314 a0001c0001t0012g0044 a0001c0001t0012g0046 a0001c0001t0012g0047 a0001c0001t0014g0330 a0001c0001t0028g0192 a0001c0004t0004g0076 a0001c0004t0004g0117 a0001c0004t0004g0246 a0001c0004t0004g0252 a0001c0004t0004g0256 a0001c0004t0004g0257 a0001c0004t0004g0271 a0001c0004t0004g0296 a0001c0004t0030g0251 a0001c0005t0004g0317 a0001c0005t0005g0030 a0001c0005t0005g0316 a0001c0005t0005g0318 a0001c0005t0005g0320 a0001c0005t0005g0323 a0001c0005t0005g0324 a0001c0005t0005g0325 a0001c0005t0005g0335 a0001c0007t0004g0007 a0001c0007t0004g0056 a0001c0007t0004g0115 a0001c0007t0004g0119 a0001c0007t0004g0120 a0001c0015t0015g0017 a0001c0015t0015g0343 a0001c0016t0005g0334 a0001c0018t0005g0288 a0001c0018t0005g0289 a0001c0018t0005g0290 a0001c0019t0014g0310 a0001c0019t0014g0311 a0001c0039t0012g0045 a0005c0049t0004g0109 a0007c0047t0029g0055	64	396	0.1616	-25	c.351 others(42): Show c.3512-822_3512-798delTCACCCAACCATCCATCTCATCCAT	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	21/21			chr6	TogoVar
THEG_chr19_356747_381026	376583	AACCCTCA others(18): Show AACCCTCACAACAAAATAATGGTTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0007 a0001c0001t0008g0007	1	370	0.0027	-25	c.-63 others(34): Show c.-638_-614delATAACCATTATTTTGTTGTGAGGGT	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		558		chr19	TogoVar
THEG_chr19_356747_381026	376695	CCCCACCC others(18): Show CCCCACCCAGCCTCTCCCCCTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 NA19080.hp1 HG02738.hp1 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0050 a0002c0002t0002 a0001c0001t0050 a0002c0002t0002	a0001c0001t0050g0304 a0002c0002t0002g0005 a0001c0001t0050g0304 a0002c0002t0002g0005	2	370	0.0054	-25	c.-75 others(34): Show c.-750_-726delCACACAGGGGGAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		670		chr19	TogoVar
THEG_chr19_356747_381026	376906	CCCCACCC others(18): Show CCCCACCCAGCCTCTCCCCCTCTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01496.hp2 HG01257.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0004 a0001c0001t0006g0004	2	370	0.0054	-25	c.-96 others(34): Show c.-961_-937delCACAGAGGGGGAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		881		chr19	TogoVar
THEG_chr19_356747_381026	377179	CCCCCTCT others(18): Show CCCCCTCTGTGCCCCACCCAGCCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	370	0.0027	-25	c.-12 others(36): Show c.-1234_-1210delAGAGGCTGGGTGGGGCACAGAGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1154		chr19	TogoVar
THEG_chr19_356747_381026	377555	CCCCACCC others(18): Show CCCCACCCAGCCTCTCCCCCTCTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0107 a0001c0001t0036g0107	1	370	0.0027	-25	c.-16 others(36): Show c.-1610_-1586delCACAGAGGGGGAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1530		chr19	TogoVar
THEG_chr19_356747_381026	377581	CCCCACCC others(18): Show CCCCACCCAGCCTCTCCCCCTCTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG03704.hp2 HG00280.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0087 a0001c0001t0002g0080 a0001c0001t0002g0087	2	370	0.0054	-25	c.-16 others(36): Show c.-1636_-1612delCACAGAGGGGGAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1556		chr19	TogoVar
THNSL1_chr10_25011612_25031664	25014874	AGTAAAAA others(18): Show AGTAAAAATAATTGACCATTAGATCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	412	0.0024	-25	c.-20 others(36): Show c.-2033_-2009delGTAAAAATAATTGACCATTAGATCT	THNSL1	ENSG00000185875.13	transcript	ENST00000376356.5	protein_coding		1737		chr10	TogoVar
THOC1_chr18_209520_273047	236471	TCAGCCTC others(18): Show TCAGCCTCCCGAGTAGCTGGGAACTA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02280.hp2 others(8): Show HG02109.hp2 HG02257.hp1 HG02280.hp2 HG02717.hp2 HG02818.hp2 HG02922.hp1 HG02976.hp2 HG03209.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0066 a0001c0001t0001g0067 others(7): Show a0001c0001t0001g0015 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201	11	376	0.0293	-25	c.919 others(42): Show c.919-9595_919-9571delTAGTTCCCAGCTACTCGGGAGGCTG	THOC1	ENSG00000079134.13	transcript	ENST00000261600.11	protein_coding	11/20			chr18	TogoVar
THOC3_chr5_175954531_175973315	175967522	TACCACCA others(18): Show TACCACCAACGTACCACCAACGTACC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01358.hp2 HG02132.hp1 others(2): Show HG01109.hp1 HG01358.hp2 HG02132.hp1 HG03927.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0029 a0001c0001t0003g0107 a0001c0002t0001g0030 others(1): Show a0001c0001t0001g0029 a0001c0001t0003g0107 a0001c0002t0001g0030 a0001c0002t0001g0087	5	259	0.0193	-25	c.268 others(40): Show c.268-280_268-256delGGTACGTTGGTGGTACGTTGGTGGT	THOC3	ENSG00000051596.10	transcript	ENST00000265097.9	protein_coding	1/5			chr5	TogoVar
THRB_chr3_24112153_24499850	24113911	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0025 a0001c0001t0051g0025	1	178	0.0056	-25	c.89 others(36): Show c.8948_*8972delAAAAAAAAAAAAAAAAAAAAAAAAA	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding		3241		chr3	TogoVar
THSD4_chr15_71110471_71788383	71416741	GTTTTGTT others(18): Show GTTTTGTTTTATTTTATTTTATTTTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG01081.hp2 others(11): Show HG00099.hp2 HG00642.hp2 HG01081.hp2 HG01255.hp2 HG01361.hp2 HG01496.hp1 HG02257.hp1 HG02683.hp1 HG02809.hp2 HG03453.hp2 HG03654.hp1 HG03710.hp2 NA19009.hp1 NA19009.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0003c0010 a0007c0022	a0001c0001t0001 a0001c0001t0011 a0001c0002t0002 others(9): Show a0001c0001t0001 a0001c0001t0011 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0009 a0001c0004t0007 a0001c0004t0017 a0001c0004t0029 a0001c0007t0001 a0003c0010t0027 a0007c0022t0032	a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0011g0001 others(11): Show a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0011g0001 a0001c0001t0011g0094 a0001c0002t0002g0043 a0001c0002t0003g0059 a0001c0002t0006g0026 a0001c0002t0009g0091 a0001c0004t0007g0062 a0001c0004t0017g0032 a0001c0004t0029g0086 a0001c0007t0001g0008 a0003c0010t0027g0088 a0007c0022t0032g0014	14	116	0.1207	-25	c.115 others(44): Show c.1152+4923_1152+4947delGTTTTATTTTATTTTATTTTATTTT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71593423	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp2 HG02809.hp2 others(2): Show HG02257.hp2 HG02559.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0002c0005	a0001c0001t0013 a0001c0001t0030 a0001c0002t0003 others(2): Show a0001c0001t0013 a0001c0001t0030 a0001c0002t0003 a0001c0007t0007 a0002c0005t0033	a0001c0001t0013g0097 a0001c0001t0030g0035 a0001c0002t0003g0059 others(2): Show a0001c0001t0013g0097 a0001c0001t0030g0035 a0001c0002t0003g0059 a0001c0007t0007g0070 a0002c0005t0033g0040	5	116	0.0431	-25	c.115 others(46): Show c.1153-67080_1153-67056delAAAAAAAAAAAAAAAAAAAAAAAA A	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71682880	CTTTCTTT others(18): Show CTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01081.hp1 HG01361.hp1 others(18): Show HG00280.hp2 HG01081.hp1 HG01361.hp1 HG01884.hp2 HG01978.hp1 HG02004.hp1 HG02257.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG03130.hp2 HG03579.hp1 HG03669.hp2 NA18966.hp1 NA18981.hp2 NA19043.hp2 NA20905.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0009 a0002c0015 a0004c0014 a0006c0013	a0001c0001t0002 a0001c0001t0036 a0001c0002t0002 others(15): Show a0001c0001t0002 a0001c0001t0036 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0009 a0001c0002t0016 a0001c0002t0035 a0001c0002t0043 a0001c0003t0014 a0001c0006t0001 a0001c0006t0007 a0001c0006t0012 a0001c0009t0006 a0001c0009t0013 a0002c0015t0007 a0004c0014t0038 a0006c0013t0001	a0001c0001t0002g0075 a0001c0001t0036g0089 a0001c0002t0002g0012 others(18): Show a0001c0001t0002g0075 a0001c0001t0036g0089 a0001c0002t0002g0012 a0001c0002t0002g0043 a0001c0002t0002g0073 a0001c0002t0003g0059 a0001c0002t0005g0045 a0001c0002t0005g0103 a0001c0002t0009g0077 a0001c0002t0016g0084 a0001c0002t0035g0017 a0001c0002t0043g0076 a0001c0003t0014g0116 a0001c0006t0001g0063 a0001c0006t0007g0030 a0001c0006t0012g0078 a0001c0009t0006g0015 a0001c0009t0013g0039 a0002c0015t0007g0092 a0004c0014t0038g0016 a0006c0013t0001g0038	21	116	0.1810	-25	c.135 others(46): Show c.1357+22149_1357+22173delTCTTTCTTTCTTTCTTTCTTTCTT T	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD7A_chr7_11365365_11837198	11641749	AAATAAAA others(18): Show AAATAAAATAAAATAAAATATAATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG01169.hp1 others(5): Show HG00642.hp2 HG00741.hp2 HG01169.hp1 HG01433.hp2 HG01884.hp2 HG01975.hp1 HG02818.hp1 NA19043.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0010	a0001c0002 a0001c0003 a0001c0010 others(5): Show a0001c0002 a0001c0003 a0001c0010 a0001c0011 a0001c0014 a0002c0007 a0005c0039 a0010c0028	a0001c0002t0039 a0001c0003t0062 a0001c0010t0001 others(5): Show a0001c0002t0039 a0001c0003t0062 a0001c0010t0001 a0001c0011t0002 a0001c0014t0038 a0002c0007t0003 a0005c0039t0002 a0010c0028t0001	a0001c0002t0039g0152 a0001c0003t0062g0167 a0001c0010t0001g0031 others(5): Show a0001c0002t0039g0152 a0001c0003t0062g0167 a0001c0010t0001g0031 a0001c0011t0002g0153 a0001c0014t0038g0062 a0002c0007t0003g0051 a0005c0039t0002g0048 a0010c0028t0001g0011	8	180	0.0444	-25	c.191 others(42): Show c.191-4813_191-4789delATATTATATTTTATTTTATTTTATT	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	1/27			chr7	TogoVar
THSD7B_chr2_136760545_137682718	137518015	TCATCAAA others(18): Show TCATCAAATGGAAGTGGTTGGGCTTC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02647.hp2 HG02257.hp1 HG02647.hp2	a0003 a0017 a0003 a0017	a0003c0025 a0017c0027 a0003c0025 a0017c0027	a0003c0025t0001 a0017c0027t0001 a0003c0025t0001 a0017c0027t0001	a0003c0025t0001g0006 a0017c0027t0001g0065 a0003c0025t0001g0006 a0017c0027t0001g0065	2	98	0.0204	-25	c.313 others(46): Show c.3139-45182_3139-45158delTCCATCAAATGGAAGTGGTTGGGC T	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	137605648	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0078 a0001c0005t0010g0078	1	98	0.0102	-25	c.342 others(46): Show c.3424-10512_3424-10488delTTTTTTTTTTTTTTTTTTTTTTTT T	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	17/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THUMPD2_chr2_39731061_39784258	39773551	ATTTAAAA others(18): Show ATTTAAAAATATATATATATTTATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(206): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18956.hp1 NA18959.hp2 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp2 NA18991.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19004.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19079.hp1 NA19079.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0002 a0001c0010 others(8): Show a0001c0001 a0001c0002 a0001c0010 a0002c0003 a0003c0004 a0004c0005 a0006c0007 a0007c0011 a0008c0009 a0009c0013 a0010c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001 a0001c0010t0001 a0002c0003t0001 a0003c0004t0001 a0003c0004t0011 a0004c0005t0001 a0006c0007t0001 a0007c0011t0001 a0008c0009t0001 a0009c0013t0001 a0010c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(162): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0248 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0005g0059 a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0155 a0001c0001t0006g0015 a0001c0001t0006g0089 a0001c0001t0007g0016 a0001c0001t0008g0035 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0010t0001g0068 a0002c0003t0001g0023 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0001g0159 a0002c0003t0001g0161 a0003c0004t0001g0131 a0003c0004t0001g0153 a0003c0004t0011g0173 a0004c0005t0001g0072 a0004c0005t0001g0117 a0004c0005t0001g0118 a0006c0007t0001g0075 a0006c0007t0001g0076 a0007c0011t0001g0107 a0008c0009t0001g0133 a0009c0013t0001g0249 a0010c0008t0001g0124	209	338	0.6183	-25	c.127 others(42): Show c.127-1936_127-1912delATATAAATATATATATATTTTTAAA	THUMPD2	ENSG00000138050.15	transcript	ENST00000505747.6	protein_coding	1/9			chr2	TogoVar
TIAM1_chr21_31113418_31349261	31181753	CTTCTTTT others(18): Show CTTCTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0148 a0001c0002t0001g0148	1	212	0.0047	-25	c.288 others(42): Show c.2887+643_2887+667delAAAAAAAAAAAAAAAAAAAAAAGAA	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	15/27			chr21	TogoVar
TIAM1_chr21_31113418_31349261	31181756	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp2 HG02083.hp1 HG02083.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0013 a0001c0001 a0005c0013	a0001c0001t0008 a0005c0013t0002 a0001c0001t0008 a0005c0013t0002	a0001c0001t0008g0129 a0005c0013t0002g0192 a0001c0001t0008g0129 a0005c0013t0002g0192	2	212	0.0094	-25	c.288 others(42): Show c.2887+640_2887+664delAAAAAAAAAAAAAAAAAAAAAAAAA	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	15/27			chr21	TogoVar
TIAM2_chr6_154990315_155262723	155029171	ATATGTAC others(18): Show ATATGTACTATGTGTTATATACACTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG01192.hp2 others(17): Show HG00099.hp2 HG00280.hp2 HG01192.hp2 HG02109.hp1 HG02559.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02818.hp1 HG02886.hp2 HG03098.hp2 HG03491.hp2 HG03492.hp1 HG03834.hp2 NA18969.hp1 NA18982.hp2 NA19001.hp2 NA19007.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0010 a0011 a0014 a0019 a0020 a0030	a0001c0001 a0001c0002 a0001c0009 others(11): Show a0001c0001 a0001c0002 a0001c0009 a0001c0052 a0002c0003 a0002c0016 a0002c0030 a0003c0006 a0010c0054 a0011c0048 a0014c0035 a0019c0025 a0020c0066 a0030c0036	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0002t0001 a0001c0002t0003 a0001c0009t0012 a0001c0052t0012 a0002c0003t0003 a0002c0016t0008 a0002c0030t0008 a0003c0006t0002 a0010c0054t0005 a0011c0048t0001 a0014c0035t0024 a0019c0025t0003 a0020c0066t0002 a0030c0036t0005	a0001c0001t0001g0139 a0001c0001t0001g0149 a0001c0001t0003g0130 others(17): Show a0001c0001t0001g0139 a0001c0001t0001g0149 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0013g0219 a0001c0002t0001g0058 a0001c0002t0001g0170 a0001c0002t0003g0054 a0001c0009t0012g0189 a0001c0052t0012g0222 a0002c0003t0003g0117 a0002c0016t0008g0067 a0002c0030t0008g0066 a0003c0006t0002g0114 a0010c0054t0005g0202 a0011c0048t0001g0050 a0014c0035t0024g0201 a0019c0025t0003g0046 a0020c0066t0002g0075 a0030c0036t0005g0188	20	230	0.0870	-25	c.-20 others(46): Show c.-209+33704_-209+33728delGTATGTACTATGTGTTATATACAC T	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155029196	GTATGTAC others(18): Show GTATGTACTATGTGTTATATACACTA	G G	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0210 a0001c0004t0006g0210	1	230	0.0044	-25	c.-20 others(46): Show c.-209+33775_-209+33799delCACTATATGTACTATGTGTTATAT A	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155205182	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01175.hp1 HG01255.hp1 others(39): Show HG00558.hp2 HG01175.hp1 HG01255.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02886.hp1 HG03195.hp2 HG03704.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18944.hp1 NA18944.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18982.hp2 NA19001.hp2 NA19007.hp1 NA19043.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA20129.hp1	a0001 a0002 a0007 others(6): Show a0001 a0002 a0007 a0011 a0016 a0017 a0021 a0023 a0031	a0001c0001 a0001c0002 a0001c0038 others(9): Show a0001c0001 a0001c0002 a0001c0038 a0001c0053 a0002c0003 a0007c0013 a0011c0048 a0016c0027 a0017c0026 a0021c0046 a0023c0049 a0031c0021	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(20): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0009 a0001c0002t0015 a0001c0038t0001 a0001c0053t0015 a0002c0003t0001 a0002c0003t0003 a0002c0003t0026 a0007c0013t0001 a0011c0048t0001 a0016c0027t0001 a0017c0026t0001 a0021c0046t0001 a0023c0049t0001 a0031c0021t0001	a0001c0001t0001g0021 a0001c0001t0001g0034 a0001c0001t0001g0043 others(39): Show a0001c0001t0001g0021 a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0123 a0001c0001t0001g0143 a0001c0001t0001g0172 a0001c0001t0003g0099 a0001c0001t0003g0168 a0001c0001t0005g0178 a0001c0001t0014g0228 a0001c0001t0015g0045 a0001c0001t0019g0214 a0001c0002t0001g0019 a0001c0002t0001g0037 a0001c0002t0001g0058 a0001c0002t0001g0152 a0001c0002t0001g0166 a0001c0002t0001g0170 a0001c0002t0003g0101 a0001c0002t0003g0128 a0001c0002t0004g0030 a0001c0002t0009g0119 a0001c0002t0015g0118 a0001c0038t0001g0132 a0001c0053t0015g0072 a0002c0003t0001g0013 a0002c0003t0001g0026 a0002c0003t0001g0092 a0002c0003t0001g0104 a0002c0003t0001g0124 a0002c0003t0001g0147 a0002c0003t0003g0142 a0002c0003t0026g0199 a0007c0013t0001g0010 a0011c0048t0001g0050 a0016c0027t0001g0129 a0017c0026t0001g0060 a0021c0046t0001g0084 a0023c0049t0001g0035 a0031c0021t0001g0028	42	230	0.1826	-25	c.306 others(44): Show c.3065-6008_3065-5984delAAAAAAAAAAAAAAAAAAAAAAAAA	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIMD4_chr5_156914292_156968226	156958305	GAAGGAAA others(18): Show GAAGGAAAGGAAAGGAAAGGAAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(39): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01168.hp2 HG01346.hp2 HG01358.hp1 HG01515.hp1 HG01884.hp2 HG02056.hp2 HG02615.hp1 HG02630.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03669.hp1 NA18906.hp1 NA18960.hp2 NA18962.hp1 NA18974.hp2 NA18984.hp1 NA19030.hp2 NA19086.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0094 others(36): Show a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0206 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0229 a0001c0001t0001g0265 a0001c0001t0001g0277 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0002g0034 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0003g0001 a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0156	42	312	0.1346	-25	c.59- others(40): Show c.59-3574_59-3550delTCCTTTCCTTTCCTTTCCTTTCCTT	TIMD4	ENSG00000145850.9	transcript	ENST00000274532.7	protein_coding	1/8			chr5	TogoVar
TIMM44_chr19_7921718_7948666	7934439	CCCCCAGA others(18): Show CCCCCAGAGCCACGAGCACACCGGCA	C C	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	384	0.0026	-25	c.394 others(40): Show c.394-226_394-202delTGCCGGTGTGCTCGTGGCTCTGGGG	TIMM44	ENSG00000104980.8	transcript	ENST00000270538.8	protein_coding	4/12			chr19	TogoVar
TK1_chr17_78169091_78192052	78186680	AAGGGAAG others(18): Show AAGGGAAGGGGAGGGGAGGGGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0201 a0001c0002t0001g0201	1	446	0.0022	-25	c.98+ others(37): Show c.98+82_98+106delCCCCTCCCCTCCCCTCCCCTTCCCT	TK1	ENSG00000167900.12	transcript	ENST00000301634.12	protein_coding	2/6			chr17	TogoVar
TKTL1_chrX_154290795_154335350	154328545	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02922.hp1 HG03195.hp1 others(3): Show HG02486.hp1 HG02922.hp1 HG03195.hp1 HG03486.hp1 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0018 a0001c0001t0001g0096 a0001c0001t0001g0242 others(3): Show a0001c0001t0001g0018 a0001c0001t0001g0096 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0257 a0001c0001t0007g0232	6	272	0.0221	-25	c.161 others(42): Show c.1618+610_1618+634delAAAAAAAAAAAAAAAAAAAAAAAAA	TKTL1	ENSG00000007350.18	transcript	ENST00000369915.8	protein_coding	12/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
TLE5_chr19_3047910_3067495	3051705	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	410	0.0024	-25	c.20 others(36): Show c.2089_*2113delTATATATATATATATATATATATAT	TLE5	ENSG00000104964.15	transcript	ENST00000327141.9	protein_coding		1204		chr19	TogoVar
TLK1_chr2_170985823_171165893	171143506	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA20905.hp1 HG02622.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0139 a0001c0001t0004g0083 a0001c0001t0001g0139 a0001c0001t0004g0083	2	266	0.0075	-25	c.139 others(44): Show c.139+16759_139+16783delTTTTTTTTTTTTTTTTTTTTTTTTT	TLK1	ENSG00000198586.14	transcript	ENST00000431350.7	protein_coding	1/20			chr2	TogoVar
TLL2_chr10_96359608_96518926	96361936	ATACAATA others(18): Show ATACAATACAATACAGTACAGTACAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0006 a0007c0016 a0001c0001 a0003c0006 a0007c0016	a0001c0001t0003 a0003c0006t0010 a0007c0016t0010 a0001c0001t0003 a0003c0006t0010 a0007c0016t0010	a0001c0001t0003g0127 a0003c0006t0010g0253 a0007c0016t0010g0250 a0001c0001t0003g0127 a0003c0006t0010g0253 a0007c0016t0010g0250	3	256	0.0117	-25	c.61 others(36): Show c.6127_*6151delCTGTACTGTACTGTATTGTATTGTA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding		2671		chr10	TogoVar
TLL2_chr10_96359608_96518926	96396518	GAAGGACC others(18): Show GAAGGACCCTTGGTAATGTAAGGCCA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG02280.hp1 others(11): Show HG01884.hp1 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03471.hp2 HG03516.hp2 NA18522.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0003 a0001c0001t0005 a0001c0001t0019 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0019 a0001c0002t0011 a0002c0004t0003	a0001c0001t0003g0127 a0001c0001t0003g0226 a0001c0001t0005g0075 others(11): Show a0001c0001t0003g0127 a0001c0001t0003g0226 a0001c0001t0005g0075 a0001c0001t0019g0001 a0001c0002t0011g0220 a0001c0002t0011g0242 a0002c0004t0003g0078 a0002c0004t0003g0119 a0002c0004t0003g0233 a0002c0004t0003g0234 a0002c0004t0003g0235 a0002c0004t0003g0236 a0002c0004t0003g0237 a0002c0004t0003g0241	14	256	0.0547	-25	c.138 others(42): Show c.1385-523_1385-499delTGGCCTTACATTACCAAGGGTCCTT	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	11/20			chr10	TogoVar
TLN2_chr15_62385550_62849631	62547859	GTTGCCTC others(18): Show GTTGCCTCTGAAATTGCTGTCTATCC	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03453.hp1 HG03195.hp2 HG03453.hp1	a0001 a0003 a0001 a0003	a0001c0007 a0003c0027 a0001c0007 a0003c0027	a0001c0007t0012 a0003c0027t0001 a0001c0007t0012 a0003c0027t0001	a0001c0007t0012g0082 a0003c0027t0001g0081 a0001c0007t0012g0082 a0003c0027t0001g0081	2	144	0.0139	-25	c.-23 others(46): Show c.-237-41826_-237-41802delTGCCTCTGAAATTGCTGTCTATCC T	TLN2	ENSG00000171914.17	transcript	ENST00000636159.2	protein_coding	1/58		INFO_REALIGN_3_PRIME	chr15	TogoVar
TLN2_chr15_62385550_62849631	62631523	TTTCCTTT others(18): Show TTTCCTTTCCTTTCCTTTCCTTTCCA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0001 a0001c0002t0009g0001	1	144	0.0069	-25	c.-37 others(44): Show c.-37+13073_-37+13097delATTCCTTTCCTTTCCTTTCCTTTCC	TLN2	ENSG00000171914.17	transcript	ENST00000636159.2	protein_coding	3/58		INFO_REALIGN_3_PRIME	chr15	TogoVar
TLN2_chr15_62385550_62849631	62840906	ATTATGTT others(18): Show ATTATGTTGTTCTCAGACACTTTGGC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp2 HG02886.hp2 HG03471.hp1 others(1): Show HG02630.hp2 HG02886.hp2 HG03471.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0063 a0001c0002 a0001c0063	a0001c0002t0009 a0001c0063t0018 a0001c0002t0009 a0001c0063t0018	a0001c0002t0009g0001 a0001c0002t0009g0014 a0001c0002t0009g0099 others(1): Show a0001c0002t0009g0001 a0001c0002t0009g0014 a0001c0002t0009g0099 a0001c0063t0018g0095	4	144	0.0278	-25	c.29 others(34): Show c.299_*323delATGTTGTTCTCAGACACTTTGGCTT	TLN2	ENSG00000171914.17	transcript	ENST00000636159.2	protein_coding	59/59	299	INFO_REALIGN_3_PRIME	chr15	TogoVar
TM4SF19_chr3_196318547_196343388	196340854	CTTATTTT others(18): Show CTTATTTTATTTTATTTTATTTTATT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00544.hp1 others(62): Show HG00099.hp2 HG00408.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00735.hp1 HG01106.hp2 HG01109.hp1 HG01346.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03209.hp2 HG03239.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 NA18939.hp2 NA18950.hp1 NA18950.hp2 NA18975.hp2 NA18988.hp1 NA18992.hp1 NA18993.hp2 NA19009.hp2 NA19010.hp1 NA19043.hp1 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19067.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(56): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0145 a0001c0001t0001g0163 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0243 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0002c0002t0001g0021 a0002c0002t0001g0046 a0002c0002t0001g0064 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0079 a0002c0002t0001g0083 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0104 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0110 a0002c0002t0001g0113 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0122 a0002c0002t0001g0251 a0002c0002t0001g0260 a0002c0002t0001g0262 a0003c0003t0001g0138	65	370	0.1757	-25	c.-26 others(36): Show c.-2617_-2593delAATAAAATAAAATAAAATAAAATAA	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding		2467		chr3	TogoVar
TMA16_chr4_163489690_163525539	163494171	GGGGCGGG others(18): Show GGGGCGGGGCGGGGCAGGGCAGGGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	422	0.0024	-25	c.-63 others(34): Show c.-630_-606delGGGCGGGGCGGGGCAGGGCAGGGCA	TMA16	ENSG00000198498.10	transcript	ENST00000358572.10	protein_coding		518		chr4	TogoVar
TMBIM1_chr2_218269197_218297503	218297175	GAATGATA others(18): Show GAATGATAGATGTGTGGGGGATAGAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0001 a0002c0001t0001g0001	1	356	0.0028	-25	c.-47 others(36): Show c.-4775_-4751delATCTATCCCCCACACATCTATCATT	TMBIM1	ENSG00000135926.15	transcript	ENST00000258412.8	protein_coding		4673		chr2	TogoVar
TMC1_chr9_72516608_72843297	72532541	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01884.hp1 HG02258.hp1 others(1): Show HG01071.hp1 HG01884.hp1 HG02258.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0014 a0001c0003t0003 a0001c0003t0013 a0001c0001t0014 a0001c0003t0003 a0001c0003t0013	a0001c0001t0014g0080 a0001c0003t0003g0110 a0001c0003t0013g0081 others(1): Show a0001c0001t0014g0080 a0001c0003t0003g0110 a0001c0003t0013g0081 a0001c0003t0013g0082	4	182	0.0220	-25	c.-42 others(46): Show c.-428+10650_-428+10674delAAAAAAAAAAAAAAAAAAAAAAAA A	TMC1	ENSG00000165091.18	transcript	ENST00000297784.10	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr9	TogoVar
TMCC1_chr3_129642792_129898711	129818401	TAAGAAAC others(18): Show TAAGAAACTTTTAAAGAAAAGTTTTA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0253 a0001c0001t0008g0253	1	258	0.0039	-25	c.576 others(42): Show c.576+9377_576+9401delTAAAACTTTTCTTTAAAAGTTTCTT	TMCC1	ENSG00000172765.19	transcript	ENST00000393238.8	protein_coding	4/6			chr3	TogoVar
TMCO4_chr1_19677240_19804916	19797946	GAGAAAGA others(18): Show GAGAAAGAGAGAGAAAAGAAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0008 a0008	a0008c0026 a0008c0026	a0008c0026t0006 a0008c0026t0006	a0008c0026t0006g0001 a0008c0026t0006g0001	1	312	0.0032	-25	c.-10 others(42): Show c.-101+166_-101+190delTTTCTTTTCTTTTCTCTCTCTTTCT	TMCO4	ENSG00000162542.14	transcript	ENST00000294543.11	protein_coding	2/15			chr1	TogoVar
TMCO4_chr1_19677240_19804916	19797956	GAGAAAAG others(18): Show GAGAAAAGAAAAGAAAAGAAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG06807.hp1 NA18522.hp1 others(1): Show HG02258.hp2 HG06807.hp1 NA18522.hp1 NA19043.hp2	a0002 a0003 a0008 others(1): Show a0002 a0003 a0008 a0019	a0002c0001 a0003c0004 a0008c0025 others(1): Show a0002c0001 a0003c0004 a0008c0025 a0019c0039	a0002c0001t0001 a0003c0004t0010 a0008c0025t0008 others(1): Show a0002c0001t0001 a0003c0004t0010 a0008c0025t0008 a0019c0039t0002	a0002c0001t0001g0307 a0003c0004t0010g0009 a0008c0025t0008g0008 others(1): Show a0002c0001t0001g0307 a0003c0004t0010g0009 a0008c0025t0008g0008 a0019c0039t0002g0306	4	312	0.0128	-25	c.-10 others(42): Show c.-101+156_-101+180delTTTCTTTTCTTTTCTTTTCTTTTCT	TMCO4	ENSG00000162542.14	transcript	ENST00000294543.11	protein_coding	2/15			chr1	TogoVar
TMED10_chr14_75126469_75181612	75144609	AGTCCACA others(18): Show AGTCCACAGATATGAGGGAGAGATGT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0046 a0001c0001t0006g0046	1	262	0.0038	-25	c.411 others(42): Show c.411+3030_411+3054delACATCTCTCCCTCATATCTGTGGAC	TMED10	ENSG00000170348.9	transcript	ENST00000303575.9	protein_coding	3/4			chr14	TogoVar
TMED10_chr14_75126469_75181612	75164546	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA19012.hp1 NA19078.hp1 HG03831.hp1 NA19012.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0129 a0001c0001t0003g0134 a0001c0001t0005g0175 a0001c0001t0003g0129 a0001c0001t0003g0134 a0001c0001t0005g0175	3	262	0.0115	-25	c.225 others(44): Show c.225+11784_225+11808delTATATATATATATATATATATATAT	TMED10	ENSG00000170348.9	transcript	ENST00000303575.9	protein_coding	1/4			chr14	TogoVar
TMED10_chr14_75126469_75181612	75164548	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA19081.hp1 NA18990.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0160 a0001c0001t0001g0161	2	262	0.0076	-25	c.225 others(44): Show c.225+11782_225+11806delTATATATATATATATATATATATAT	TMED10	ENSG00000170348.9	transcript	ENST00000303575.9	protein_coding	1/4			chr14	TogoVar
TMED10_chr14_75126469_75181612	75164553	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01496.hp1 HG03098.hp1 others(2): Show HG01361.hp1 HG01496.hp1 HG03098.hp1 HG03834.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0015	a0001c0001t0001g0169 a0001c0001t0006g0043 a0001c0001t0009g0250 others(2): Show a0001c0001t0001g0169 a0001c0001t0006g0043 a0001c0001t0009g0250 a0001c0001t0009g0256 a0001c0001t0015g0246	5	262	0.0191	-25	c.225 others(44): Show c.225+11777_225+11801delATATATATATATATATATATATATA	TMED10	ENSG00000170348.9	transcript	ENST00000303575.9	protein_coding	1/4			chr14	TogoVar
TMED10_chr14_75126469_75181612	75164555	ATATATAT others(18): Show ATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG00735.hp2 others(6): Show HG00639.hp1 HG00642.hp2 HG00735.hp2 HG01081.hp1 HG01261.hp2 HG03098.hp2 HG03130.hp1 HG04184.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 others(2): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0019 a0001c0001t0020	a0001c0001t0006g0045 a0001c0001t0006g0178 a0001c0001t0009g0251 others(6): Show a0001c0001t0006g0045 a0001c0001t0006g0178 a0001c0001t0009g0251 a0001c0001t0009g0257 a0001c0001t0011g0034 a0001c0001t0011g0044 a0001c0001t0011g0111 a0001c0001t0019g0258 a0001c0001t0020g0252	9	262	0.0344	-25	c.225 others(44): Show c.225+11775_225+11799delAAATATATATATATATATATATATA	TMED10	ENSG00000170348.9	transcript	ENST00000303575.9	protein_coding	1/4			chr14	TogoVar
TMED10_chr14_75126469_75181612	75164557	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0180 a0001c0001t0011g0180	1	262	0.0038	-25	c.225 others(44): Show c.225+11773_225+11797delAAAAATATATATATATATATATATA	TMED10	ENSG00000170348.9	transcript	ENST00000303575.9	protein_coding	1/4			chr14	TogoVar
TMED5_chr1_93144742_93185413	93176303	CATTATGC others(18): Show CATTATGCCTAGTGAAAGTCTGATAA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0036	1	344	0.0029	-25	c.189 others(42): Show c.189+3726_189+3750delTTATCAGACTTTCACTAGGCATAAT	TMED5	ENSG00000117500.13	transcript	ENST00000370282.8	protein_coding	1/3			chr1	TogoVar

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Search Results (Total: 4527 hits)