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.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
BSPH1_chr19_47963046_47997170	47969684	G G	GGAGAGAG others(13): Show GGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01192.hp1 HG01943.hp2 others(9): Show HG00408.hp2 HG01192.hp1 HG01943.hp2 HG02027.hp1 HG03540.hp2 HG03654.hp1 NA18953.hp1 NA18959.hp1 NA18966.hp2 NA19078.hp1 NA19087.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0116 a0001c0001t0001g0151 a0001c0001t0001g0193 others(9): Show a0001c0001t0001g0116 a0001c0001t0001g0151 a0001c0001t0001g0193 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0265 a0001c0001t0001g0345 a0001c0001t0003g0326 a0002c0002t0001g0019 a0002c0002t0001g0038 a0002c0002t0001g0042 a0002c0002t0001g0058	12	444	0.0270	20	c.3- others(35): Show c.3-1495_*3-1476dupTCTCTCTCTCTCTCTCTCTC		BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	5/5						chr19	TogoVar
BSPH1_chr19_47963046_47997170	47978001	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19043.hp1 NA18945.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0250 a0001c0001t0004g0359 a0001c0001t0001g0250 a0001c0001t0004g0359	2	444	0.0045	20	c.125 others(35): Show c.125-517_125-498dupATATATATATATATATATAT		BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	3/5						chr19	TogoVar
BSPRY_chr9_113344541_113376222	113352480	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03834.hp2 NA19010.hp2 HG03831.hp1 HG03834.hp2 NA19010.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0002c0003 a0001c0002 a0001c0006 a0002c0003	a0001c0002t0007 a0001c0006t0002 a0002c0003t0006 a0001c0002t0007 a0001c0006t0002 a0002c0003t0006	a0001c0002t0007g0250 a0001c0006t0002g0287 a0002c0003t0006g0286 a0001c0002t0007g0250 a0001c0006t0002g0287 a0002c0003t0006g0286	3	448	0.0067	20	c.202 others(37): Show c.202-1756_202-1737dupCACACACACACACACACACA		BSPRY	ENSG00000119411.11	transcript	ENST00000374183.5	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
BSPRY_chr9_113344541_113376222	113357886	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0090 a0003c0004t0003g0090	1	448	0.0022	20	c.301 others(37): Show c.301-2583_301-2564dupATATATATATATATATATAT		BSPRY	ENSG00000119411.11	transcript	ENST00000374183.5	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
BST2_chr19_17397939_17410630	17410497	C C	CATATATA others(13): Show CATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0016 a0001c0001t0008g0016	1	412	0.0024	20	c.-49 others(31): Show c.-4942_-4923dupATATATATATATATATATAT		BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding					4868		chr19	TogoVar
BST2_chr19_17397939_17410630	17410527	T T	TACACACA others(13): Show TACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	412	0.0024	20	c.-49 others(31): Show c.-4953_-4952insGTGTGTGTGTGTGTGTGTGT		BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding					4898		chr19	TogoVar
BSX_chr11_122972570_122986834	122983523	G G	GAAAGAAA others(13): Show GAAAGAAAAGAAAAGAAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00558.hp1 others(58): Show HG00323.hp1 HG00408.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00673.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01256.hp1 HG01256.hp2 HG01496.hp1 HG01975.hp1 HG01978.hp1 HG02055.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02258.hp1 HG02293.hp2 HG02451.hp2 HG02622.hp2 HG02809.hp2 HG02886.hp1 HG03130.hp2 HG03195.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03688.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18970.hp1 NA18979.hp1 NA18985.hp2 NA18987.hp2 NA18988.hp2 NA18997.hp2 NA19004.hp2 NA19011.hp2 NA19030.hp1 NA19063.hp2 NA19081.hp2 NA19084.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0055 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0004g0091 a0001c0001t0004g0092	61	422	0.1446	20	c.-18 others(31): Show c.-1853_-1852insTCTTTTCTTTTCTTTTCTTT		BSX	ENSG00000188909.5	transcript	ENST00000343035.3	protein_coding					1690		chr11	TogoVar
BTAF1_chr10_91918770_92036437	91991265	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA18946.hp2 HG03491.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0300 a0001c0001t0002g0244 a0001c0001t0002g0300	2	330	0.0061	20	c.285 others(37): Show c.2855-849_2855-848insTATATATATATATATATATA		BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	20/37					INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	92032009	C C	CTTCTTTT others(13): Show CTTCTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG01169.hp1 HG01516.hp2 others(11): Show HG00673.hp2 HG01169.hp1 HG01516.hp2 HG01517.hp1 HG02083.hp1 HG02602.hp2 HG03927.hp1 NA18950.hp2 NA18954.hp1 NA18964.hp1 NA18988.hp2 NA19001.hp2 NA19054.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0188 others(11): Show a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0196 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0203 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0208 a0001c0001t0003g0213 a0001c0001t0010g0152	14	330	0.0424	20	c.30 others(31): Show c.3076_*3077insTTCTTTTTTTTTTTTTTTTT		BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding					573		chr10	TogoVar
BTBD16_chr10_122266296_122343159	122273221	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01433.hp1 HG01981.hp2 others(11): Show HG00323.hp1 HG01433.hp1 HG01981.hp2 HG01993.hp1 HG02717.hp1 HG02922.hp1 HG03491.hp1 HG03492.hp1 NA18612.hp1 NA18960.hp1 NA18985.hp1 NA18992.hp2 NA19057.hp1 NA20805.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0007	a0001c0001 a0001c0007 a0002c0002 others(3): Show a0001c0001 a0001c0007 a0002c0002 a0004c0012 a0006c0036 a0007c0006	a0001c0001t0001 a0001c0007t0001 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0007t0001 a0002c0002t0001 a0004c0012t0001 a0006c0036t0001 a0007c0006t0001	a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 others(11): Show a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0007t0001g0149 a0001c0007t0001g0150 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 a0004c0012t0001g0079 a0006c0036t0001g0153 a0007c0006t0001g0142 a0007c0006t0001g0146 a0007c0006t0001g0147 a0007c0006t0001g0148	14	382	0.0367	20	c.-43 others(37): Show c.-43+1713_-43+1732dupTATATATATATATATATATA		BTBD16	ENSG00000138152.10	transcript	ENST00000260723.6	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
BTBD16_chr10_122266296_122343159	122279511	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03195.hp2 HG03486.hp1 others(3): Show HG01884.hp1 HG03195.hp2 HG03486.hp1 HG03654.hp2 NA18954.hp1 NA19054.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0002c0002t0001 a0004c0005t0001 a0001c0001t0001 a0002c0002t0001 a0004c0005t0001	a0001c0001t0001g0016 a0001c0001t0001g0171 a0001c0001t0001g0232 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0171 a0001c0001t0001g0232 a0002c0002t0001g0070 a0004c0005t0001g0157	6	382	0.0157	20	c.167 others(37): Show c.167+2588_167+2607dupCACACACACACACACACACA		BTBD16	ENSG00000138152.10	transcript	ENST00000260723.6	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
BTBD17_chr17_74351416_74366868	74364473	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG02451.hp2 others(9): Show HG01243.hp1 HG01884.hp1 HG02451.hp2 HG02559.hp2 HG02970.hp1 HG03041.hp1 HG03225.hp2 HG03540.hp2 HG03579.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0004g0070 a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0004g0070	12	444	0.0270	20	c.-26 others(31): Show c.-2655_-2654insATACACACACACACACACAC		BTBD17	ENSG00000204347.4	transcript	ENST00000375366.4	protein_coding					2606		chr17	TogoVar
BTBD17_chr17_74351416_74366868	74364473	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02602.hp1 HG03669.hp1 others(12): Show HG02300.hp1 HG02602.hp1 HG03669.hp1 HG03831.hp2 HG06807.hp2 NA18946.hp1 NA18950.hp1 NA18956.hp2 NA18978.hp1 NA18986.hp2 NA19010.hp2 NA19080.hp1 NA19084.hp1 NA19090.hp1 NA19091.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0001 a0001c0001t0001 a0005c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0014 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0071 a0005c0007t0001g0048	15	444	0.0338	20	c.-26 others(31): Show c.-2655_-2654insACACACACACACACACACAC		BTBD17	ENSG00000204347.4	transcript	ENST00000375366.4	protein_coding					2606		chr17	TogoVar
BTBD17_chr17_74351416_74366868	74365044	C C	CATATATA others(13): Show CATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG00735.hp2 others(24): Show HG00423.hp1 HG00597.hp2 HG00735.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01978.hp2 HG01993.hp1 HG02056.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG03209.hp1 HG03453.hp1 HG03486.hp1 HG03492.hp1 HG03579.hp2 NA18948.hp2 NA18951.hp2 NA18987.hp1 NA18990.hp1 NA18998.hp1 NA19004.hp1 NA19066.hp1 NA19077.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0056 a0001c0001t0002g0002 a0001c0001t0003g0010 a0001c0001t0004g0063 a0002c0002t0001g0004 a0002c0002t0001g0012 a0002c0002t0001g0016	27	444	0.0608	20	c.-32 others(31): Show c.-3226_-3225insATATATATATATATATATAT		BTBD17	ENSG00000204347.4	transcript	ENST00000375366.4	protein_coding					3177		chr17	TogoVar
BTBD19_chr1_44803523_44820585	44814212	T T	TTCTTTCT others(13): Show TTCTTTCTTTCTTTTTCTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0007 a0001c0001t0072g0007	1	436	0.0023	20	c.44 others(29): Show c.441_*442insCTTTCTTTCTTTTTCTTTCT		BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding	8/8				442	INFO_REALIGN_3_PRIME	chr1	TogoVar
BTBD19_chr1_44803523_44820585	44814212	T T	TTCTTTCT others(13): Show TTCTTTCTTTTTCTTTCTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18948.hp2 NA19082.hp1 NA18948.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0131 a0001c0001t0074 a0001c0001t0131	a0001c0001t0074g0005 a0001c0001t0131g0006 a0001c0001t0074g0005 a0001c0001t0131g0006	2	436	0.0046	20	c.44 others(29): Show c.441_*442insCTTTCTTTTTCTTTCTTTCT		BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding	8/8				442	INFO_REALIGN_3_PRIME	chr1	TogoVar
BTBD1_chr15_83011423_83072252	83051873	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02257.hp2 HG02723.hp2 others(1): Show HG01243.hp2 HG02257.hp2 HG02723.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0016 a0001c0001t0001 a0001c0001t0005 a0001c0001t0016	a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0005g0070 others(1): Show a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0005g0070 a0001c0001t0016g0121	4	328	0.0122	20	c.559 others(37): Show c.559-1696_559-1695insGTGTGTGTGTGTGTGTGTGT		BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	2/7						chr15	TogoVar
BTBD1_chr15_83011423_83072252	83051875	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02083.hp2 HG02257.hp1 others(6): Show HG01496.hp1 HG02083.hp2 HG02257.hp1 HG02572.hp2 HG02818.hp2 HG02896.hp2 HG03041.hp2 HG03225.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0018 a0001c0001t0002 a0001c0001t0005 a0001c0001t0018	a0001c0001t0002g0019 a0001c0001t0002g0041 a0001c0001t0005g0063 others(6): Show a0001c0001t0002g0019 a0001c0001t0002g0041 a0001c0001t0005g0063 a0001c0001t0005g0064 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0068 a0001c0001t0005g0069 a0001c0001t0018g0156	9	328	0.0274	20	c.559 others(37): Show c.559-1698_559-1697insGTGTGTGTGTGTGTGTGTGT		BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	2/7						chr15	TogoVar
BTBD1_chr15_83011423_83072252	83051877	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp2 HG01099.hp2 others(18): Show HG00140.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01433.hp2 HG02258.hp1 HG02683.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG03017.hp2 HG03516.hp1 HG03834.hp1 NA18522.hp2 NA18965.hp1 NA19030.hp1 NA19081.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 others(18): Show a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0298 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0062 a0001c0001t0005g0072 a0001c0001t0007g0154	21	328	0.0640	20	c.559 others(37): Show c.559-1719_559-1700dupGTGTGTGTGTGTGTGTGTGT		BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	2/7						chr15	TogoVar
BTBD2_chr19_1980448_2020714	2015725	G G	GGGGAGGG others(13): Show GGGGAGGGGAGGAGGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA19087.hp1 NA18990.hp1 NA19087.hp1	a0006 a0006	a0006c0020 a0006c0021 a0006c0020 a0006c0021	a0006c0020t0003 a0006c0021t0002 a0006c0020t0003 a0006c0021t0002	a0006c0020t0003g0012 a0006c0021t0002g0011 a0006c0020t0003g0012 a0006c0021t0002g0011	2	364	0.0055	20	c.-42 others(27): Show c.-42_-23dupTCCTTCCCTCCTCCCCTCCC		BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding					12		chr19	TogoVar
BTBD3_chr20_11912893_11931595	11919747	C C	CCATGCGA others(13): Show CCATGCGATGTTTTACGGAGA	frameshift_variant frameshift_variant	HIGH	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0007 a0002c0010t0007	a0002c0010t0007g0001 a0002c0010t0007g0001	1	444	0.0023	20	c.448 others(27): Show c.448_467dupCATGCGATGTTTTACGGAGA	p.Glu others(5): Show p.Glu156fs	BTBD3	ENSG00000132640.15	transcript	ENST00000378226.7	protein_coding	3/4	851/4881	468/1569	156/522		INFO_REALIGN_3_PRIME	chr20	TogoVar
BTBD6_chr14_105243533_105256093	105248555	C C	CGGCGGGT others(13): Show CGGCGGGTACGGGCTCGGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02258.hp1 others(1): Show HG01884.hp1 HG01891.hp2 HG02258.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	4	278	0.0144	20	c.-15 others(29): Show c.-150_-131dupTACGGGCTCGGGCGGGCGGG		BTBD6	ENSG00000184887.14	transcript	ENST00000392554.8	protein_coding	1/4				130	INFO_REALIGN_3_PRIME	chr14	TogoVar
BTBD7_chr14_93232550_93338036	93334768	C C	CGGACAGG others(13): Show CGGACAGGCAGACTTGAGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0341 a0001c0001t0002g0341	1	375	0.0027	20	c.-20 others(31): Show c.-2075_-2056dupATACTCAAGTCTGCCTGTCC		BTBD7	ENSG00000011114.15	transcript	ENST00000334746.10	protein_coding					1733		chr14	TogoVar
BTBD9_chr6_38163451_38644929	38205879	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02698.hp1 HG02922.hp2 others(3): Show HG02109.hp1 HG02698.hp1 HG02922.hp2 HG03098.hp2 NA18956.hp2 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0021 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0021 a0001c0001t0043 a0001c0001t0164 a0001c0001t0177	a0001c0001t0002g0080 a0001c0001t0006g0063 a0001c0001t0021g0091 others(3): Show a0001c0001t0002g0080 a0001c0001t0006g0063 a0001c0001t0021g0091 a0001c0001t0043g0045 a0001c0001t0164g0089 a0001c0001t0177g0093	6	224	0.0268	20	c.156 others(41): Show c.1563-13283_1563-13282insTTTTTTTTTTTTTTTTTTTT		BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	9/10						chr6	TogoVar
BTBD9_chr6_38163451_38644929	38302485	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA18973.hp1 NA18973.hp2 HG00323.hp1 NA18973.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0118 a0001c0001t0160 a0001c0001t0096 a0001c0001t0118 a0001c0001t0160	a0001c0001t0096g0128 a0001c0001t0118g0049 a0001c0001t0160g0012 a0001c0001t0096g0128 a0001c0001t0118g0049 a0001c0001t0160g0012	3	224	0.0134	20	c.126 others(41): Show c.1265-14044_1265-14025dupTATATATATATATATATATA		BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	7/10						chr6	TogoVar
BTBD9_chr6_38163451_38644929	38302485	G G	GTATGTGT others(13): Show GTATGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0081 a0001c0001t0013g0081	1	224	0.0045	20	c.126 others(41): Show c.1265-14025_1265-14024insTATATATATACACACACATA		BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	7/10						chr6	TogoVar
BTBD9_chr6_38163451_38644929	38302485	G G	GTATGTGT others(13): Show GTATGTGTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0167 a0001c0001t0167	a0001c0001t0167g0134 a0001c0001t0167g0134	1	224	0.0045	20	c.126 others(41): Show c.1265-14025_1265-14024insTATATACACACACACACATA		BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	7/10						chr6	TogoVar
BTBD9_chr6_38163451_38644929	38328564	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18995.hp2 NA18998.hp1 others(2): Show HG03098.hp1 NA18995.hp2 NA18998.hp1 NA19063.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0101 a0001c0001t0119 others(2): Show a0001c0001t0070 a0001c0001t0101 a0001c0001t0119 a0001c0001t0152 a0001c0001t0175	a0001c0001t0070g0141 a0001c0001t0101g0113 a0001c0001t0119g0114 others(2): Show a0001c0001t0070g0141 a0001c0001t0101g0113 a0001c0001t0119g0114 a0001c0001t0152g0104 a0001c0001t0175g0027	5	224	0.0223	20	c.126 others(41): Show c.1264+16400_1264+16419dupACACACACACACACACACAC		BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	7/10						chr6	TogoVar
BTBD9_chr6_38163451_38644929	38375891	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0140 a0001c0001t0140	a0001c0001t0140g0155 a0001c0001t0140g0155	1	224	0.0045	20	c.115 others(41): Show c.1155-30818_1155-30799dupCTTTCTTTCTTTCTTTCTTT		BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10						chr6	TogoVar
BTBD9_chr6_38163451_38644929	38375934	A A	AGAAAGAA others(13): Show AGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0141 a0001c0001t0141	a0001c0001t0141g0148 a0001c0001t0141g0148	1	224	0.0045	20	c.115 others(41): Show c.1155-30842_1155-30841insCTTCTTTCTTTCTTTCTTTC		BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10						chr6	TogoVar
BTBD9_chr6_38163451_38644929	38417775	G G	GGAGAGAG others(13): Show GGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0121 a0001c0001t0121	a0001c0001t0121g0115 a0001c0001t0121g0115	1	224	0.0045	20	c.115 others(41): Show c.1155-72702_1155-72683dupTCTCTCTCTCTCTCTCTCTC		BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10						chr6	TogoVar
BTBD9_chr6_38163451_38644929	38438254	G G	GGAAGGAA others(13): Show GGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00558.hp2 others(56): Show HG00323.hp1 HG00438.hp1 HG00558.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01258.hp2 HG01433.hp2 HG01884.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02129.hp1 HG02155.hp1 HG02280.hp2 HG02559.hp2 HG02630.hp2 HG02809.hp1 HG02970.hp1 HG03017.hp2 HG03195.hp1 HG03209.hp1 HG03486.hp1 HG03490.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03831.hp1 HG03834.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18983.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19043.hp2 NA19063.hp1 NA19088.hp2 NA19240.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(50): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0032 a0001c0001t0041 a0001c0001t0042 a0001c0001t0057 a0001c0001t0061 a0001c0001t0064 a0001c0001t0065 a0001c0001t0069 a0001c0001t0070 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0080 a0001c0001t0082 a0001c0001t0083 a0001c0001t0086 a0001c0001t0095 a0001c0001t0096 a0001c0001t0098 a0001c0001t0100 a0001c0001t0106 a0001c0001t0118 a0001c0001t0122 a0001c0001t0125 a0001c0001t0126 a0001c0001t0134 a0001c0001t0139 a0001c0001t0143 a0001c0001t0144 a0001c0001t0146 a0001c0001t0149 a0001c0001t0156 a0001c0001t0157 a0001c0001t0158 a0001c0001t0160 a0001c0001t0161 a0001c0001t0167 a0001c0001t0178 a0001c0001t0184 a0001c0001t0186 a0002c0003t0183	a0001c0001t0002g0058 a0001c0001t0003g0056 a0001c0001t0003g0060 others(56): Show a0001c0001t0002g0058 a0001c0001t0003g0056 a0001c0001t0003g0060 a0001c0001t0004g0125 a0001c0001t0005g0168 a0001c0001t0005g0169 a0001c0001t0007g0017 a0001c0001t0007g0024 a0001c0001t0008g0051 a0001c0001t0008g0054 a0001c0001t0009g0044 a0001c0001t0010g0016 a0001c0001t0012g0186 a0001c0001t0018g0038 a0001c0001t0019g0026 a0001c0001t0019g0106 a0001c0001t0020g0129 a0001c0001t0020g0131 a0001c0001t0032g0180 a0001c0001t0041g0120 a0001c0001t0042g0121 a0001c0001t0057g0066 a0001c0001t0061g0064 a0001c0001t0064g0184 a0001c0001t0065g0133 a0001c0001t0069g0139 a0001c0001t0070g0141 a0001c0001t0076g0154 a0001c0001t0077g0061 a0001c0001t0078g0082 a0001c0001t0080g0140 a0001c0001t0082g0137 a0001c0001t0083g0136 a0001c0001t0086g0217 a0001c0001t0095g0023 a0001c0001t0096g0128 a0001c0001t0098g0079 a0001c0001t0100g0105 a0001c0001t0106g0149 a0001c0001t0118g0049 a0001c0001t0122g0144 a0001c0001t0125g0029 a0001c0001t0126g0059 a0001c0001t0134g0158 a0001c0001t0139g0039 a0001c0001t0143g0043 a0001c0001t0144g0042 a0001c0001t0146g0047 a0001c0001t0149g0055 a0001c0001t0156g0172 a0001c0001t0157g0174 a0001c0001t0158g0146 a0001c0001t0160g0012 a0001c0001t0161g0009 a0001c0001t0167g0134 a0001c0001t0178g0071 a0001c0001t0184g0170 a0001c0001t0186g0224 a0002c0003t0183g0008	59	224	0.2634	20	c.115 others(41): Show c.1155-93162_1155-93161insTTTCCTTCCTTCCTTCCTTC		BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10						chr6	TogoVar
BTBD9_chr6_38163451_38644929	38557015	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0102	a0001c0001t0102g0007 a0001c0001t0102g0007	1	224	0.0045	20	c.115 others(41): Show c.1154+20565_1154+20584dupTTTTTTTTTTTTTTTTTTTT		BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10						chr6	TogoVar
BTC_chr4_74739759_74799523	74749483	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02723.hp1 HG03209.hp2 HG02615.hp1 HG02723.hp1 HG03209.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0002 a0002c0002t0007 a0005c0005t0004 a0002c0002t0002 a0002c0002t0007 a0005c0005t0004	a0002c0002t0002g0045 a0002c0002t0007g0041 a0005c0005t0004g0088 a0002c0002t0002g0045 a0002c0002t0007g0041 a0005c0005t0004g0088	3	360	0.0083	20	c.428 others(37): Show c.428+1070_428+1089dupATTTATTTATTTATTTATTT		BTC	ENSG00000174808.12	transcript	ENST00000395743.8	protein_coding	4/5						chr4	TogoVar
BTK_chrX_101344450_101391191	101382311	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp1 HG01891.hp2 others(14): Show HG01081.hp1 HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02129.hp1 HG02280.hp1 HG02451.hp2 HG02622.hp2 HG02886.hp2 HG02897.hp1 HG03209.hp1 HG03540.hp2 HG04204.hp1 HG06807.hp1 NA19088.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0002	a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 others(14): Show a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0042 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0007g0100 a0001c0002t0002g0041	17	303	0.0561	20	c.-31 others(37): Show c.-31+3731_-31+3750dupTAAATAAATAAATAAATAAA		BTK	ENSG00000010671.18	transcript	ENST00000308731.8	protein_coding	1/18						chrX	TogoVar
BTLA_chr3_112458966_112504472	112469607	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0208 a0003c0003t0005g0208	1	344	0.0029	20	c.594 others(35): Show c.594+131_594+150dupTATATATATATATATATATA		BTLA	ENSG00000186265.10	transcript	ENST00000334529.10	protein_coding	4/4						chr3	TogoVar
BTNL3_chr5_180983846_181011727	181002471	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA19062.hp1 HG02809.hp2 NA19062.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0001 a0005c0010t0001 a0001c0001t0001 a0005c0010t0001	a0001c0001t0001g0078 a0005c0010t0001g0122 a0001c0001t0001g0078 a0005c0010t0001g0122	2	206	0.0097	20	c.674 others(35): Show c.674-186_674-167dupATATATATATATATATATAT		BTNL3	ENSG00000168903.9	transcript	ENST00000342868.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
BTNL9_chr5_181035266_181066521	181053020	C C	CGCGCCCC others(13): Show CGCGCCCCCGCCCCCTCCGCG	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0272 a0001c0004t0005g0272	1	390	0.0026	20	c.737 others(35): Show c.737-176_737-175insCCCCGCCCCCTCCGCGGCGC		BTNL9	ENSG00000165810.17	transcript	ENST00000327705.14	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
BTRC_chr10_101349165_101562313	101387528	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01167.hp1 HG01952.hp2 others(10): Show HG01123.hp1 HG01167.hp1 HG01952.hp2 HG02004.hp1 HG02071.hp2 HG02293.hp1 HG02523.hp2 HG04199.hp2 NA18947.hp1 NA18979.hp2 NA18980.hp2 NA19009.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0009 a0003c0004t0001 a0001c0001t0001 a0001c0001t0009 a0003c0004t0001	a0001c0001t0001g0004 a0001c0001t0001g0101 a0001c0001t0001g0106 others(10): Show a0001c0001t0001g0004 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0161 a0001c0001t0009g0129 a0003c0004t0001g0108	13	266	0.0489	20	c.48+ others(37): Show c.48+33318_48+33319insTTTTTTTTTTTTTTTTTTTT		BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
BTRC_chr10_101349165_101562313	101442262	A A	ATCTCTCT others(13): Show ATCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01243.hp1 HG01257.hp1 others(3): Show HG00280.hp2 HG01243.hp1 HG01257.hp1 HG01891.hp2 HG03041.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0001c0002t0002	a0001c0001t0002g0045 a0001c0001t0006g0057 a0001c0001t0006g0064 others(3): Show a0001c0001t0002g0045 a0001c0001t0006g0057 a0001c0001t0006g0064 a0001c0001t0006g0067 a0001c0001t0014g0015 a0001c0002t0002g0025	6	266	0.0226	20	c.156 others(39): Show c.156+11812_156+11831dupCTCTCTCTCTCTCTCTCTCT		BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
BTRC_chr10_101349165_101562313	101455983	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp2 HG01123.hp2 others(16): Show HG00280.hp2 HG00642.hp2 HG01123.hp2 HG01168.hp1 HG02040.hp1 HG02155.hp2 HG02451.hp1 HG02486.hp1 HG02922.hp1 HG03017.hp1 HG03139.hp1 NA18959.hp2 NA18971.hp2 NA18980.hp1 NA18998.hp2 NA19005.hp2 NA19007.hp2 NA19058.hp2 NA19090.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0006 a0001c0001 a0001c0002 a0005c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0002 a0005c0006t0003	a0001c0001t0002g0054 a0001c0001t0002g0073 a0001c0001t0002g0162 others(16): Show a0001c0001t0002g0054 a0001c0001t0002g0073 a0001c0001t0002g0162 a0001c0001t0003g0164 a0001c0001t0003g0180 a0001c0001t0003g0189 a0001c0001t0003g0197 a0001c0001t0003g0214 a0001c0001t0004g0167 a0001c0001t0004g0177 a0001c0001t0004g0213 a0001c0001t0004g0222 a0001c0001t0004g0224 a0001c0001t0005g0206 a0001c0001t0005g0227 a0001c0001t0005g0241 a0001c0001t0006g0066 a0001c0002t0002g0025 a0005c0006t0003g0251	19	266	0.0714	20	c.157 others(37): Show c.157-5982_157-5963dupCACACACACACACACACACA		BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
BTRC_chr10_101349165_101562313	101472275	C C	CTCTCTTC others(13): Show CTCTCTTCTCTTCTCTTCTCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp1 HG00639.hp2 others(37): Show HG00323.hp1 HG00609.hp1 HG00639.hp2 HG01168.hp1 HG01175.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01891.hp1 HG01978.hp2 HG02027.hp2 HG02109.hp2 HG02155.hp2 HG02809.hp2 HG02886.hp2 HG03704.hp1 HG03831.hp1 HG04204.hp2 NA18944.hp2 NA18948.hp2 NA18950.hp1 NA18959.hp1 NA18964.hp2 NA18966.hp2 NA18971.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18998.hp1 NA19002.hp2 NA19003.hp2 NA19011.hp2 NA19058.hp1 NA19064.hp2 NA19074.hp1 NA19084.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0002t0002 a0002c0003t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(37): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0094 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0002g0014 a0001c0001t0002g0020 a0001c0001t0002g0034 a0001c0001t0002g0044 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0062 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0002g0162 a0001c0001t0002g0262 a0001c0001t0009g0116 a0001c0001t0009g0127 a0001c0001t0009g0129 a0001c0002t0002g0024 a0002c0003t0001g0138 a0002c0003t0001g0139	40	266	0.1504	20	c.235 others(37): Show c.235-7062_235-7043dupTCTCTTCTCTTCTCTTCTCT		BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
BTRC_chr10_101349165_101562313	101475922	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01934.hp1 HG02145.hp2 HG01517.hp1 HG01934.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007	a0001c0001t0002g0042 a0001c0001t0004g0205 a0001c0001t0007g0010 a0001c0001t0002g0042 a0001c0001t0004g0205 a0001c0001t0007g0010	3	266	0.0113	20	c.235 others(37): Show c.235-3433_235-3414dupATATATATATATATATATAT		BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
BTRC_chr10_101349165_101562313	101475953	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01981.hp2 HG02451.hp2 others(2): Show HG01109.hp2 HG01981.hp2 HG02451.hp2 HG02976.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0095 a0001c0001t0001g0155 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0095 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0002g0038	5	266	0.0188	20	c.235 others(37): Show c.235-3414_235-3413insATATATATATATATATATTT		BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
BTRC_chr10_101349165_101562313	101549713	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0233 a0001c0001t0004g0233	1	266	0.0038	20	c.165 others(37): Show c.1657-982_1657-963dupAAAAAAAAAAAAAAAAAAAA		BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
BUB1B_chr15_40156069_40226123	40158318	G G	GCACTTTG others(13): Show GCACTTTGAAGGTGCCTTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0034 a0001c0003t0001g0034	1	352	0.0028	20	c.-29 others(31): Show c.-2903_-2902insCACTTTGAAGGTGCCTTCTC		BUB1B	ENSG00000156970.13	transcript	ENST00000287598.11	protein_coding					2750		chr15	TogoVar
BVES_chr6_105091822_105142157	105109763	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02622.hp2 HG03834.hp2 others(2): Show HG01258.hp1 HG02622.hp2 HG03834.hp2 NA18946.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0031 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0031 a0001c0001t0067 a0001c0001t0073	a0001c0001t0001g0159 a0001c0001t0003g0137 a0001c0001t0031g0109 others(2): Show a0001c0001t0001g0159 a0001c0001t0003g0137 a0001c0001t0031g0109 a0001c0001t0067g0102 a0001c0001t0073g0108	5	232	0.0216	20	c.958 others(37): Show c.958+5922_958+5923insTTTTTTTTTTTTTTTTTTTT		BVES	ENSG00000112276.14	transcript	ENST00000314641.10	protein_coding	7/7						chr6	TogoVar
BZW1_chr2_200806910_200832338	200826372	T T	TATAGATA others(13): Show TATAGATAGATAGATAGATAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04228.hp2 NA19067.hp1 HG04228.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0099 a0001c0001t0102 a0001c0001t0099 a0001c0001t0102	a0001c0001t0099g0002 a0001c0001t0102g0060 a0001c0001t0099g0002 a0001c0001t0102g0060	2	388	0.0052	20	c.42 others(31): Show c.4210_*4229dupGATAGATAGATAGATAGATA		BZW1	ENSG00000082153.18	transcript	ENST00000409600.6	protein_coding	12/12				4230	INFO_REALIGN_3_PRIME	chr2	TogoVar
BZW2_chr7_16641181_16711517	16656137	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03041.hp2 HG03471.hp1 HG01255.hp1 HG03041.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272	3	418	0.0072	20	c.-7- others(35): Show c.-7-9286_-7-9285insTATATATATATATATATATA		BZW2	ENSG00000136261.16	transcript	ENST00000258761.8	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
BZW2_chr7_16641181_16711517	16656150	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	418	0.0024	20	c.-7- others(35): Show c.-7-9286_-7-9285insTATATATATATATATATACA		BZW2	ENSG00000136261.16	transcript	ENST00000258761.8	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr7	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)