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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

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
TBATA_chr10_70766238_70790377	70776948	A A	AGGGGGGG others(18): Show AGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	410	0.0024	25	c.693 others(40): Show c.693+204_693+205insCCCCCCCCCCCCCCCCCCCCCCCCC	TBATA	ENSG00000166220.14	transcript	ENST00000456372.4	protein_coding	7/10			chr10	TogoVar
TBC1D12_chr10_94397541_94541332	94531862	A A	ATGTTATT others(18): Show ATGTTATTTTATTTTATATGTTATGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp2 HG00741.hp1 others(42): Show HG00323.hp2 HG00735.hp2 HG00741.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01256.hp1 HG01258.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01978.hp2 HG02083.hp2 HG02129.hp1 HG02523.hp2 HG02615.hp2 HG02717.hp1 HG02738.hp1 HG02922.hp2 HG02976.hp2 HG03225.hp2 HG03471.hp2 HG03516.hp2 HG03654.hp1 HG03942.hp2 NA18906.hp1 NA18942.hp2 NA18950.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp2 NA18970.hp2 NA19004.hp2 NA19063.hp2 NA19074.hp2 NA19080.hp1 NA19084.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0021 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0021 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 a0001c0002t0016 a0001c0004t0012	a0001c0001t0002g0002 a0001c0001t0002g0223 a0001c0001t0002g0224 others(41): Show a0001c0001t0002g0002 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0229 a0001c0001t0002g0239 a0001c0001t0002g0258 a0001c0001t0002g0261 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0004g0213 a0001c0001t0021g0272 a0001c0002t0002g0236 a0001c0002t0002g0259 a0001c0002t0002g0266 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0278 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0295 a0001c0002t0002g0327 a0001c0002t0002g0328 a0001c0002t0003g0176 a0001c0002t0003g0177 a0001c0002t0003g0178 a0001c0002t0003g0179 a0001c0002t0003g0181 a0001c0002t0003g0307 a0001c0002t0003g0318 a0001c0002t0003g0325 a0001c0002t0009g0334 a0001c0002t0016g0277 a0001c0004t0012g0212	45	346	0.1301	25	c.225 others(42): Show c.2259+403_2259+404insGTTATTTTATTTTATATGTTATGTT	TBC1D12	ENSG00000108239.9	transcript	ENST00000225235.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
TBC1D14_chr4_6904826_7038114	6933237	A A	ACCTCCCC others(18): Show ACCTCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01952.hp2 HG02523.hp2 others(7): Show HG00609.hp1 HG01952.hp2 HG02523.hp2 HG02622.hp1 HG02897.hp2 HG03209.hp1 HG03471.hp2 NA18960.hp2 NA19012.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0022	a0001c0001t0001g0034 a0001c0001t0001g0081 a0001c0001t0001g0082 others(7): Show a0001c0001t0001g0034 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0142 a0001c0001t0001g0228 a0001c0001t0005g0140 a0001c0001t0008g0059 a0001c0001t0008g0060 a0001c0001t0008g0102 a0001c0001t0022g0115	10	304	0.0329	25	c.722 others(42): Show c.722+9133_722+9157dupCTCCCCTCCCCTCCCCTCCCCTCCC	TBC1D14	ENSG00000132405.19	transcript	ENST00000409757.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D16_chr17_79927343_80040872	79928346	T T	TGAGGTAG others(18): Show TGAGGTAGGGGATGGAGTAAGATGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0136 a0001c0002t0011g0136	1	334	0.0030	25	c.12 others(38): Show c.12512_*12513insCACATCTTACTCCATCCCCTACCTC	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		3996		chr17	TogoVar
TBC1D16_chr17_79927343_80040872	79929975	C C	CCTCCTCT others(18): Show CCTCCTCTCCCCTCTCCTCCCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0100	a0001c0001t0100g0314 a0001c0001t0100g0314	1	334	0.0030	25	c.10 others(38): Show c.10883_*10884insAGGAGGGGAGGAGAGGGGAGAGGAG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2367		chr17	TogoVar
TBC1D16_chr17_79927343_80040872	79929984	C C	CCCTCCTC others(18): Show CCCTCCTCTCCCCTCCTCTCCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0131 a0001c0002t0131	a0001c0002t0131g0284 a0001c0002t0131g0284	1	334	0.0030	25	c.10 others(38): Show c.10874_*10875insAGAGGGGAGAGGAGGGGAGAGGAGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2358		chr17	TogoVar
TBC1D16_chr17_79927343_80040872	79930040	T T	TCTCCCCT others(18): Show TCTCCCCTCCTCTCCCCTCCCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG03453.hp2 NA19030.hp1 HG02280.hp2 HG03453.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0051 a0001c0001t0100 a0001c0005t0051 a0001c0001t0051 a0001c0001t0100 a0001c0005t0051	a0001c0001t0051g0281 a0001c0001t0100g0314 a0001c0005t0051g0093 a0001c0001t0051g0281 a0001c0001t0100g0314 a0001c0005t0051g0093	3	334	0.0090	25	c.10 others(38): Show c.10818_*10819insGGGAGGGGAGGGGAGAGGAGGGGAG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2302		chr17	TogoVar
TBC1D22A_chr22_46757650_47180693	46772471	A A	ATGTATAC others(18): Show ATGTATACACACATATACATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01069.hp2 HG01361.hp1 others(2): Show HG00438.hp1 HG01069.hp2 HG01361.hp1 HG02886.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0016	a0001c0001t0002g0003 a0001c0001t0003g0081 a0001c0001t0006g0112 others(2): Show a0001c0001t0002g0003 a0001c0001t0003g0081 a0001c0001t0006g0112 a0001c0001t0012g0062 a0001c0001t0016g0060	5	112	0.0446	25	c.62+ others(40): Show c.62+9623_62+9624insTGTATACACACATATACATATATAT	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12			chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47019916	C C	CCCCTCTC others(18): Show CCCCTCTCCCTTAACCCTCCATCATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00558.hp1 others(22): Show HG00280.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG02027.hp1 HG02027.hp2 HG02074.hp1 HG02109.hp2 HG02257.hp2 HG02486.hp1 HG02717.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03239.hp1 HG03516.hp2 NA18980.hp2 NA20300.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0007 a0004c0005 a0001c0001 a0003c0007 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0003c0007t0001 a0004c0005t0001	a0001c0001t0001g0030 a0001c0001t0001g0046 a0001c0001t0001g0056 others(22): Show a0001c0001t0001g0030 a0001c0001t0001g0046 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0002g0003 a0001c0001t0002g0099 a0001c0001t0003g0031 a0001c0001t0003g0073 a0001c0001t0003g0081 a0001c0001t0003g0088 a0001c0001t0004g0070 a0001c0001t0004g0101 a0001c0001t0005g0002 a0001c0001t0005g0104 a0001c0001t0008g0044 a0001c0001t0009g0043 a0001c0001t0012g0062 a0001c0001t0014g0065 a0001c0001t0018g0089 a0003c0007t0001g0064 a0004c0005t0001g0066	25	112	0.2232	25	c.120 others(46): Show c.1202-17132_1202-17108dupATGCCCTCTCCCTTAACCCTCCAT C	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47039935	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0024 a0001c0001t0004g0024	1	112	0.0089	25	c.132 others(44): Show c.1329+2740_1329+2764dupTTTTTTTTTTTTTTTTTTTTTTTTT	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47069819	T T	TCCCTGTT others(18): Show TCCCTGTTGTTTGGTTGGACGCTGTC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02976.hp1 HG03225.hp1 HG02717.hp1 HG02976.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0005 a0001c0001t0002g0037 a0001c0001t0005g0055 a0001c0001t0002g0005 a0001c0001t0002g0037 a0001c0001t0005g0055	3	112	0.0268	25	c.132 others(46): Show c.1329+32639_1329+32640insCGCTGTCCCCTGTTGTTTGGTTGG A	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47069867	T T	TCCCTGTT others(18): Show TCCCTGTTGTTTGGTTGGACGCTGTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03225.hp1 HG02258.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0005 a0001c0001t0005 a0001c0002t0005	a0001c0001t0005g0055 a0001c0002t0005g0011 a0001c0001t0005g0055 a0001c0002t0005g0011	2	112	0.0179	25	c.132 others(46): Show c.1329+32687_1329+32688insCGCTGTCCCCTGTTGTTTGGTTGG A	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47070372	T T	TCCCTGTT others(18): Show TCCCTGTTGTTTGGTTGGACGCTGTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG01433.hp2 others(26): Show HG00642.hp1 HG00741.hp1 HG01433.hp2 HG01884.hp2 HG02074.hp1 HG02109.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG04199.hp1 NA19030.hp2 NA19240.hp2 NA20129.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0001c0001t0023 a0001c0002t0001 a0001c0002t0005 a0002c0003t0003 a0005c0006t0021	a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0047 others(26): Show a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0061 a0001c0001t0001g0072 a0001c0001t0001g0107 a0001c0001t0002g0005 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0003g0063 a0001c0001t0004g0021 a0001c0001t0004g0053 a0001c0001t0004g0070 a0001c0001t0004g0093 a0001c0001t0005g0041 a0001c0001t0005g0055 a0001c0001t0006g0112 a0001c0001t0008g0036 a0001c0001t0008g0100 a0001c0001t0009g0043 a0001c0001t0011g0023 a0001c0001t0017g0068 a0001c0001t0023g0103 a0001c0002t0001g0001 a0001c0002t0005g0011 a0002c0003t0003g0028 a0005c0006t0021g0019	29	112	0.2589	25	c.132 others(46): Show c.1329+33192_1329+33193insCGCTGTCCCCTGTTGTTTGGTTGG A	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22B_chr6_37252772_37337970	37285315	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02965.hp2 HG02257.hp2 HG02965.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0057 a0001c0004t0002g0058 a0001c0004t0002g0057 a0001c0004t0002g0058	2	222	0.0090	25	c.801 others(40): Show c.801+854_801+878dupTTTTTTTTTTTTTTTTTTTTTTTTT	TBC1D22B	ENSG00000065491.8	transcript	ENST00000373491.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
TBC1D25_chrX_48534714_48567609	48565665	T T	TGGCTAAC others(18): Show TGGCTAACATGGTGAAACCCTGTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	294	0.0034	25	c.46 others(36): Show c.4690_*4691insGGCTAACATGGTGAAACCCTGTCTC	TBC1D25	ENSG00000068354.16	transcript	ENST00000376771.9	protein_coding		3057		chrX	TogoVar
TBC1D30_chr12_64819647_64886033	64840027	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0058 a0002c0002t0010g0058	1	298	0.0034	25	c.932 others(42): Show c.932+1177_932+1178insAAAAAAAAAAAAAAAAAAAAAAACA	TBC1D30	ENSG00000111490.15	transcript	ENST00000539867.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TBC1D32_chr6_121074494_121339480	121192051	T T	TCTTTATA others(18): Show TCTTTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0012 a0003c0004t0003g0012	1	292	0.0034	25	c.257 others(46): Show c.2570+13023_2570+13024insTATATATATATATATATATATAAA G	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	22/31			chr6	TogoVar
TBC1D32_chr6_121074494_121339480	121213524	T T	TAAAATAA others(18): Show TAAAATAAAATAAAATAAAATAAATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03831.hp1 HG04199.hp1 HG00639.hp1 HG03831.hp1 HG04199.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0014 a0001c0003t0007 a0001c0003t0014	a0001c0003t0007g0217 a0001c0003t0014g0225 a0001c0003t0014g0228 a0001c0003t0007g0217 a0001c0003t0014g0225 a0001c0003t0014g0228	3	292	0.0103	25	c.248 others(44): Show c.2482-8362_2482-8361insTATTTATTTTATTTTATTTTATTTT	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	21/31			chr6	TogoVar
TBC1D32_chr6_121074494_121339480	121213524	T T	TAAAATAA others(18): Show TAAAATAAAATAAAATAAATAAAATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01255.hp2 HG01433.hp1 others(2): Show HG01243.hp2 HG01255.hp2 HG01433.hp1 HG01496.hp1 NA18968.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0021 a0001c0003t0024 a0001c0003t0005 a0001c0003t0021 a0001c0003t0024	a0001c0003t0005g0204 a0001c0003t0005g0221 a0001c0003t0005g0226 others(2): Show a0001c0003t0005g0204 a0001c0003t0005g0221 a0001c0003t0005g0226 a0001c0003t0021g0219 a0001c0003t0024g0229	5	292	0.0171	25	c.248 others(44): Show c.2482-8362_2482-8361insTATTTTATTTATTTTATTTTATTTT	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	21/31			chr6	TogoVar
TBC1D32_chr6_121074494_121339480	121213524	T T	TAAAATAA others(18): Show TAAAATAAAATAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0230 a0001c0003t0007g0230	1	292	0.0034	25	c.248 others(44): Show c.2482-8362_2482-8361insTATTTTATTTTATTTATTTTATTTT	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	21/31			chr6	TogoVar
TBC1D7_chr6_13299951_13333537	13310637	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA19056.hp2 HG04228.hp1 NA19056.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0013 a0001c0001 a0008c0013	a0001c0001t0001 a0008c0013t0004 a0001c0001t0001 a0008c0013t0004	a0001c0001t0001g0220 a0008c0013t0004g0272 a0001c0001t0001g0220 a0008c0013t0004g0272	2	440	0.0046	25	c.520 others(42): Show c.520-2893_520-2892insTTTTTTTTTTTTTTTTTTTTTTTTT	TBC1D7	ENSG00000145979.18	transcript	ENST00000379300.8	protein_coding	5/7			chr6	TogoVar
TBC1D8_chr2_101002228_101156382	101054672	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 NA19068.hp1 HG01257.hp1 NA19068.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0006 a0002c0002 a0005c0006	a0002c0002t0002 a0005c0006t0001 a0002c0002t0002 a0005c0006t0001	a0002c0002t0002g0084 a0005c0006t0001g0211 a0002c0002t0002g0084 a0005c0006t0001g0211	2	332	0.0060	25	c.403 others(40): Show c.403-361_403-337dupAAAAAAAAAAAAAAAAAAAAAAAAA	TBC1D8	ENSG00000204634.13	transcript	ENST00000409318.2	protein_coding	3/19			chr2	TogoVar
TBC1D9B_chr5_179857071_179912897	179881946	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0144 a0002c0006t0001g0144	1	362	0.0028	25	c.125 others(44): Show c.1255-2158_1255-2157insAAAAAAAAAAAAAAAAAAAAAAAAA	TBC1D9B	ENSG00000197226.13	transcript	ENST00000355235.8	protein_coding	7/20			chr5	TogoVar
TBCD_chr17_82747065_82950914	82751576	G G	GCCCCCGC others(18): Show GCCCCCGCCCCCGCCCCCGCCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01884.hp2 HG00423.hp1 HG01884.hp2	a0001 a0004 a0001 a0004	a0001c0009 a0004c0005 a0001c0009 a0004c0005	a0001c0009t0008 a0004c0005t0001 a0001c0009t0008 a0004c0005t0001	a0001c0009t0008g0093 a0004c0005t0001g0107 a0001c0009t0008g0093 a0004c0005t0001g0107	2	318	0.0063	25	c.-61 others(34): Show c.-618_-617insCCCCCGCCCCCGCCCCCGCCCCCGC	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding		488		chr17	TogoVar
TBCD_chr17_82747065_82950914	82819538	T T	TGTTTTAA others(18): Show TGTTTTAAAAAGGTAGTTGGGTGCAG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03225.hp2 HG03130.hp2 HG03225.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0008 a0002c0012t0008	a0002c0012t0008g0170 a0002c0012t0008g0171 a0002c0012t0008g0170 a0002c0012t0008g0171	2	318	0.0063	25	c.131 others(44): Show c.1318+4605_1318+4629dupGTTTTAAAAAGGTAGTTGGGTGCAG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82844236	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0077 a0001c0001t0006g0077	1	318	0.0031	25	c.131 others(46): Show c.1319-25988_1319-25987insGTGTGTGTGTGTGTGTGTGTGTGT G	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38			chr17	TogoVar
TBCD_chr17_82747065_82950914	82886635	T T	TCTCCCCT others(18): Show TCTCCCCTCCCCTCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01123.hp1 HG01981.hp2 others(8): Show HG01074.hp1 HG01123.hp1 HG01981.hp2 HG02630.hp1 HG02698.hp1 HG02895.hp1 HG03017.hp1 HG04199.hp2 NA18747.hp2 NA18906.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0001c0030	a0001c0001t0002 a0001c0001t0028 a0001c0002t0001 others(3): Show a0001c0001t0002 a0001c0001t0028 a0001c0002t0001 a0001c0002t0002 a0001c0009t0008 a0001c0030t0002	a0001c0001t0002g0029 a0001c0001t0002g0043 a0001c0001t0002g0050 others(8): Show a0001c0001t0002g0029 a0001c0001t0002g0043 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0317 a0001c0001t0028g0213 a0001c0002t0001g0246 a0001c0002t0001g0248 a0001c0002t0002g0053 a0001c0009t0008g0058 a0001c0030t0002g0089	11	318	0.0346	25	c.153 others(44): Show c.1533+2474_1533+2498dupCTCCCCTCCCCTCCCCTCCCCTCCC	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	15/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBKBP1_chr17_47689161_47717052	47700289	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	386	0.0026	25	c.872 others(40): Show c.872+595_872+619dupTTTTTTTTTTTTTTTTTTTTTTTTT	TBKBP1	ENSG00000198933.11	transcript	ENST00000578982.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBL1XR1_chr3_177014344_177202482	177017422	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	306	0.0033	25	c.80 others(36): Show c.8075_*8076insAAAAAAAAAAAAAAAAAAAAAAAAA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding		1921		chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177055543	G G	GGGGGGCG others(18): Show GGGGGGCGGGGCGGGGGTGGGGGGGT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02135.hp1 NA18942.hp1 others(13): Show HG02071.hp2 HG02135.hp1 NA18942.hp1 NA18952.hp1 NA18954.hp2 NA18967.hp2 NA18988.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19082.hp2 NA19084.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0028	a0001c0001t0001g0287 a0001c0001t0004g0177 a0001c0001t0004g0210 others(13): Show a0001c0001t0001g0287 a0001c0001t0004g0177 a0001c0001t0004g0210 a0001c0001t0004g0233 a0001c0001t0004g0244 a0001c0001t0004g0247 a0001c0001t0004g0258 a0001c0001t0004g0268 a0001c0001t0004g0298 a0001c0001t0007g0238 a0001c0001t0007g0245 a0001c0001t0007g0248 a0001c0001t0007g0255 a0001c0001t0007g0288 a0001c0001t0007g0289 a0001c0001t0028g0003	16	306	0.0523	25	c.59- others(40): Show c.59-1650_59-1626dupACCCCCCCACCCCCGCCCCGCCCCC	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	3/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177112107	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0040 a0001c0001t0012g0040	1	306	0.0033	25	c.-12 others(46): Show c.-121-13567_-121-13566insAAAAAAATATATATATATATATAT A	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177112107	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0023 a0001c0001t0012g0023	1	306	0.0033	25	c.-12 others(46): Show c.-121-13567_-121-13566insAAAAAAAAATATATATATATATAT A	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177112107	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	306	0.0033	25	c.-12 others(46): Show c.-121-13567_-121-13566insAAAAAAAAAAATATATATATATAT A	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177146589	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA18972.hp2 HG03942.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0086 a0001c0001t0007g0110 a0001c0001t0001g0086 a0001c0001t0007g0110	2	306	0.0065	25	c.-12 others(46): Show c.-121-48049_-121-48048insTTTTTTTTTTTTTTTTTTTTTTTT T	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177189649	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	306	0.0033	25	c.-12 others(44): Show c.-122+7471_-122+7472insTTTTTTTTTTTTTTTTTTTTTTTTT	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1X_chrX_9460058_9724740	9703210	G G	GGGGAAGG others(18): Show GGGGAAGGGAAGAGATCACCAGAGAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00438.hp1 others(56): Show HG00140.hp1 HG00280.hp1 HG00438.hp1 HG00621.hp1 HG01074.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01515.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG03041.hp1 HG03041.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG04115.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18952.hp1 NA18953.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18983.hp1 NA18984.hp1 NA18995.hp1 NA19000.hp1 NA19012.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp1 NA19067.hp1 NA19076.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19091.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0034 a0001c0001t0037 a0001c0002t0029 a0001c0002t0052 a0001c0005t0019 a0005c0010t0006	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0029 others(56): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0070 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0119 a0001c0001t0001g0149 a0001c0001t0001g0163 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0185 a0001c0001t0002g0005 a0001c0001t0002g0024 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0129 a0001c0001t0002g0148 a0001c0001t0002g0165 a0001c0001t0002g0182 a0001c0001t0003g0017 a0001c0001t0003g0037 a0001c0001t0003g0051 a0001c0001t0003g0085 a0001c0001t0003g0110 a0001c0001t0003g0175 a0001c0001t0004g0133 a0001c0001t0004g0141 a0001c0001t0004g0153 a0001c0001t0004g0158 a0001c0001t0006g0105 a0001c0001t0007g0073 a0001c0001t0007g0125 a0001c0001t0007g0134 a0001c0001t0007g0189 a0001c0001t0013g0059 a0001c0001t0015g0046 a0001c0001t0015g0047 a0001c0001t0019g0102 a0001c0001t0020g0099 a0001c0001t0034g0002 a0001c0001t0037g0128 a0001c0002t0029g0067 a0001c0002t0052g0095 a0001c0005t0019g0013 a0005c0010t0006g0075	59	199	0.2965	25	c.111 others(44): Show c.1115-1681_1115-1657dupGGAAGGGAAGAGATCACCAGAGAAG	TBL1X	ENSG00000101849.18	transcript	ENST00000645353.2	protein_coding	12/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
TBX21_chr17_47728236_47751122	47747834	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01175.hp2 HG01261.hp2 others(6): Show HG01099.hp2 HG01175.hp2 HG01261.hp2 HG02055.hp1 HG02273.hp2 HG02735.hp1 HG02970.hp2 HG03688.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0014	a0001c0001t0001g0018 a0001c0002t0003g0107 a0001c0002t0003g0174 others(3): Show a0001c0001t0001g0018 a0001c0002t0003g0107 a0001c0002t0003g0174 a0001c0002t0004g0017 a0001c0002t0004g0071 a0001c0002t0014g0168	9	394	0.0228	25	c.24 others(36): Show c.2468_*2469insTTTTTTTTTTTTTTTTTTTTTTTTT	TBX21	ENSG00000073861.3	transcript	ENST00000177694.2	protein_coding		1713		chr17	TogoVar
TBX22_chrX_80009753_80036774	80012157	G G	GAGAAAGA others(18): Show GAGAAAGAAGAGAAAGAGAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG01943.hp1 HG01981.hp1 others(6): Show HG00423.hp2 HG01943.hp1 HG01981.hp1 HG02040.hp1 HG02683.hp2 HG03486.hp1 HG03490.hp1 NA18974.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0189 a0001c0001t0001g0195 others(6): Show a0001c0001t0001g0019 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0232	9	325	0.0277	25	c.-27 others(36): Show c.-2733_-2732insAGAAAGAAGAGAAAGAGAGAAAGAA	TBX22	ENSG00000122145.15	transcript	ENST00000373296.8	protein_coding		2595		chrX	TogoVar
TBX2_chr17_61394843_61414466	61402971	A A	AGAGAGAG others(18): Show AGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02071.hp2 NA19005.hp1 others(1): Show HG01109.hp1 HG02071.hp2 NA19005.hp1 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0019 a0001c0002 a0001c0019	a0001c0002t0001 a0001c0019t0004 a0001c0002t0001 a0001c0019t0004	a0001c0002t0001g0031 a0001c0019t0004g0130 a0001c0002t0001g0031 a0001c0019t0004g0130	4	438	0.0091	25	c.664 others(38): Show c.664-90_664-89insGAGAGAGAGAGAGAGAGAGAGAGAG	TBX2	ENSG00000121068.14	transcript	ENST00000240328.4	protein_coding	2/6			chr17	TogoVar
TBX2_chr17_61394843_61414466	61402971	A A	AGAGAGAG others(18): Show AGAGAGAGAGAGAGAGGGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp2 HG02293.hp1 others(4): Show HG00597.hp1 HG00673.hp2 HG02293.hp1 NA19003.hp1 NA19074.hp2 NA19086.hp2 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0005 a0002c0004t0005 a0001c0003t0005 a0002c0004t0005	a0001c0003t0005g0018 a0001c0003t0005g0149 a0002c0004t0005g0018 others(1): Show a0001c0003t0005g0018 a0001c0003t0005g0149 a0002c0004t0005g0018 a0002c0004t0005g0150	7	438	0.0160	25	c.664 others(38): Show c.664-90_664-89insGAGAGAGAGAGAGAGGGAGAGAGAG	TBX2	ENSG00000121068.14	transcript	ENST00000240328.4	protein_coding	2/6			chr17	TogoVar
TBX5_chr12_114348911_114411144	114370231	C C	CAGAAAAG others(18): Show CAGAAAAGAAAAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02300.hp1 NA18989.hp2 others(1): Show HG01993.hp1 HG02300.hp1 NA18989.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0041 a0001c0001t0002 a0001c0001t0041	a0001c0001t0002g0124 a0001c0001t0002g0285 a0001c0001t0002g0302 others(1): Show a0001c0001t0002g0124 a0001c0001t0002g0285 a0001c0001t0002g0302 a0001c0001t0041g0365	4	390	0.0103	25	c.756 others(42): Show c.756-3865_756-3841dupTTTCTTTTCTTTTCTTTTCTTTTCT	TBX5	ENSG00000089225.20	transcript	ENST00000405440.7	protein_coding	7/8			chr12	TogoVar
TBX5_chr12_114348911_114411144	114370288	G G	GAAAAGAA others(18): Show GAAAAGAAAAGAAAAGAAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18946.hp2 NA18950.hp1 HG01496.hp2 NA18946.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0195 a0001c0001t0002g0198 a0001c0001t0021g0016 a0001c0001t0002g0195 a0001c0001t0002g0198 a0001c0001t0021g0016	3	390	0.0077	25	c.756 others(42): Show c.756-3898_756-3897insTCTTTCTTTTCTTTTCTTTTCTTTT	TBX5	ENSG00000089225.20	transcript	ENST00000405440.7	protein_coding	7/8			chr12	TogoVar
TBXA2R_chr19_3589507_3611875	3604134	A A	ATCCCAAG others(18): Show ATCCCAAGAGGCTGAGGTCCTGCAAC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	428	0.0023	25	c.-84 others(42): Show c.-84+2371_-84+2395dupGTTGCAGGACCTCAGCCTCTTGGGA	TBXA2R	ENSG00000006638.13	transcript	ENST00000375190.10	protein_coding	1/2			chr19	TogoVar
TBXA2R_chr19_3589507_3611875	3611003	C C	CCTGATAT others(18): Show CCTGATATGGGCAAAACTCGGGGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0222 a0001c0002t0013g0222	1	428	0.0023	25	c.-45 others(36): Show c.-4582_-4558dupTGACCCCGAGTTTTGCCCATATCAG	TBXA2R	ENSG00000006638.13	transcript	ENST00000375190.10	protein_coding		4129		chr19	TogoVar
TBXAS1_chr7_139824264_140025293	139950848	A A	ACCCCCTC others(18): Show ACCCCCTCGCCCTCCATCTACGGGAC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	270	0.0037	25	c.451 others(42): Show c.451-2515_451-2491dupCTCGCCCTCCATCTACGGGACCCCC	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TCAF1_chr7_143846375_143907176	143902553	C C	CCCCCTCC others(18): Show CCCCCTCCCCTCCCCTCCCCTCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0083 a0001c0002t0024g0083	1	256	0.0039	25	c.-60 others(34): Show c.-608_-607insAGGGGAGGGGAGGGGAGGGGAGGGG	TCAF1	ENSG00000198420.10	transcript	ENST00000479870.6	protein_coding		378		chr7	TogoVar
TCERG1L_chr10_131087391_131316721	131256992	G G	GGAAGGAA others(18): Show GGAAGGAAAGAAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18906.hp1 HG03209.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0018 a0001c0001t0010 a0001c0001t0018	a0001c0001t0010g0089 a0001c0001t0018g0091 a0001c0001t0010g0089 a0001c0001t0018g0091	2	324	0.0062	25	c.856 others(42): Show c.856+3266_856+3267insTTTCTTTCTTTCTTTTCTTTCCTTC	TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	4/11			chr10	TogoVar
TCERG1L_chr10_131087391_131316721	131291401	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	324	0.0031	25	c.670 others(44): Show c.670+16785_670+16809dupAAAAAAAAAAAAAAAAAAAAAAAAA	TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	3/11			chr10	TogoVar
TCF12_chr15_56913644_57294853	56984014	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02293.hp2 NA18990.hp2 others(1): Show HG01928.hp2 HG02293.hp2 NA18990.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0004 a0001c0001t0001 a0002c0003t0004	a0001c0001t0001g0052 a0002c0003t0004g0270 a0002c0003t0004g0271 others(1): Show a0001c0001t0001g0052 a0002c0003t0004g0270 a0002c0003t0004g0271 a0002c0003t0004g0282	4	330	0.0121	25	c.148 others(44): Show c.148+62918_148+62919insAAAAAAAAAAAAAAAAAAAAAAGAA	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TCF12_chr15_56913644_57294853	57064795	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01978.hp1 HG02004.hp1 others(3): Show HG01109.hp2 HG01978.hp1 HG02004.hp1 HG02109.hp2 HG02300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0020 a0002c0003t0004 a0002c0003t0010 a0001c0001t0020 a0002c0003t0004 a0002c0003t0010	a0001c0001t0020g0006 a0002c0003t0004g0269 a0002c0003t0004g0270 others(3): Show a0001c0001t0020g0006 a0002c0003t0004g0269 a0002c0003t0004g0270 a0002c0003t0004g0276 a0002c0003t0010g0233 a0002c0003t0010g0307	6	330	0.0182	25	c.222 others(40): Show c.222+990_222+991insAAAAAAAAAAAAAAAAAAAAAAAAA	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr15	TogoVar

Search by Variant

Search

Search Results (Total: 8644 hits)