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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BAZ2B_chr2_159313979_159621548	159377812	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	216	0.0046	12	c.400 others(31): Show c.4006-3071_4006-3060dupTTTTTTTTTTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	25/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159423314	T T	TAAACAAA others(5): Show TAAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02630.hp2 others(4): Show HG02109.hp1 HG02109.hp2 HG02630.hp2 HG03098.hp1 HG03098.hp2 HG03540.hp2 NA21309.hp2	a0001 a0002 a0019 a0001 a0002 a0019	a0001c0001 a0001c0020 a0002c0002 others(1): Show a0001c0001 a0001c0020 a0002c0002 a0019c0017	a0001c0001t0001 a0001c0020t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0020t0001 a0002c0002t0001 a0019c0017t0001	a0001c0001t0001g0104 a0001c0020t0001g0046 a0002c0002t0001g0048 others(4): Show a0001c0001t0001g0104 a0001c0020t0001g0046 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0092 a0019c0017t0001g0006	7	216	0.0324	12	c.246 others(31): Show c.2466+4615_2466+4626dupGTTTGTTTGTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	13/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159491720	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG00741.hp2 others(10): Show HG00323.hp2 HG00639.hp2 HG00741.hp2 HG01081.hp1 HG01169.hp2 HG01361.hp2 HG02630.hp2 HG03041.hp1 HG03041.hp2 HG03834.hp2 NA18906.hp2 NA18941.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0017	a0001c0001 a0001c0008 a0002c0002 others(3): Show a0001c0001 a0001c0008 a0002c0002 a0003c0003 a0004c0009 a0017c0027	a0001c0001t0001 a0001c0001t0004 a0001c0008t0002 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0008t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0002 a0004c0009t0001 a0017c0027t0001	a0001c0001t0001g0047 a0001c0001t0001g0102 a0001c0001t0001g0105 others(10): Show a0001c0001t0001g0047 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0004g0003 a0001c0008t0002g0179 a0002c0002t0001g0043 a0002c0002t0001g0048 a0002c0002t0001g0051 a0002c0002t0002g0143 a0003c0003t0002g0182 a0004c0009t0001g0099 a0017c0027t0001g0106	13	216	0.0602	12	c.-2- others(29): Show c.-2-13011_-2-13000dupTTTTTTTTTTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159519210	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0020 a0020	a0020c0014 a0020c0014	a0020c0014t0002 a0020c0014t0002	a0020c0014t0002g0181 a0020c0014t0002g0181	1	216	0.0046	12	c.-3+ others(29): Show c.-3+36601_-3+36612dupAAAAAAAAAAAA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BBC3_chr19_47215824_47236199	47231453	G G	GAGATCGC others(5): Show GAGATCGCCCAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0232 a0001c0001t0006g0232	1	412	0.0024	12	c.-55 others(21): Show c.-552_-541dupTCTGGGCGATCT	BBC3	ENSG00000105327.18	transcript	ENST00000439096.3	protein_coding		255		chr19	TogoVar
BBLN_chr9_128155265_128168924	128161087	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(178): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03490.hp2 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp2 NA18989.hp2 NA18992.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19083.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0048 a0001c0001t0002g0011 a0001c0001t0003g0007 a0001c0001t0004g0019 a0001c0001t0006g0008	181	396	0.4571	12	c.79+ others(25): Show c.79+609_79+610insAAAAAAAAAAAA	BBLN	ENSG00000171159.5	transcript	ENST00000372994.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
BBOF1_chr14_74014349_74071092	74028467	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0275 a0001c0001t0003g0275	1	386	0.0026	12	c.286 others(27): Show c.286-683_286-672dupCACACACACACA	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOF1_chr14_74014349_74071092	74035584	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0003 a0006c0005t0003	a0006c0005t0003g0374 a0006c0005t0003g0374	1	386	0.0026	12	c.495 others(29): Show c.495+1430_495+1441dupTTTTTTTTTTTT	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOF1_chr14_74014349_74071092	74047407	C C	CTTTATTT others(5): Show CTTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp1 HG02818.hp2 others(10): Show HG02258.hp1 HG02486.hp1 HG02818.hp2 HG02965.hp1 HG03041.hp2 HG06807.hp2 NA18612.hp2 NA18952.hp2 NA19001.hp1 NA19010.hp1 NA19057.hp1 NA19067.hp2 NA19074.hp2	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0005 a0006	a0002c0002 a0003c0003 a0004c0007 others(2): Show a0002c0002 a0003c0003 a0004c0007 a0005c0006 a0006c0005	a0002c0002t0001 a0003c0003t0003 a0004c0007t0003 others(2): Show a0002c0002t0001 a0003c0003t0003 a0004c0007t0003 a0005c0006t0001 a0006c0005t0003	a0002c0002t0001g0198 a0002c0002t0001g0224 a0002c0002t0001g0225 others(10): Show a0002c0002t0001g0198 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0233 a0003c0003t0003g0189 a0004c0007t0003g0365 a0005c0006t0001g0137 a0006c0005t0003g0374 a0006c0005t0003g0375	13	386	0.0337	12	c.648 others(27): Show c.648-495_648-484dupATTTATTTATTT	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOX1_chr11_27035815_27132809	27054205	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02818.hp2 NA21309.hp2 HG02630.hp2 HG02818.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0001 a0001c0002t0009 a0001c0001t0009 a0001c0002t0001 a0001c0002t0009	a0001c0001t0009g0176 a0001c0002t0001g0071 a0001c0002t0009g0175 a0001c0001t0009g0176 a0001c0002t0001g0071 a0001c0002t0009g0175	3	318	0.0094	12	c.-38 others(29): Show c.-38-1169_-38-1158dupTGTGTGTGTGTG	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBOX1_chr11_27035815_27132809	27054234	T T	TGTGTGTG others(5): Show TGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02257.hp2 HG02602.hp2 others(1): Show HG02071.hp1 HG02257.hp2 HG02602.hp2 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080	4	318	0.0126	12	c.-38 others(29): Show c.-38-1158_-38-1157insTGTGTGTGTGCG	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBOX1_chr11_27035815_27132809	27054238	T T	TGTGTGTG others(5): Show TGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0174 a0001c0002t0015g0174	1	318	0.0031	12	c.-38 others(29): Show c.-38-1154_-38-1153insTGTGTGTGTGCG	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBOX1_chr11_27035815_27132809	27057063	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp1 HG03516.hp2 HG02055.hp1 HG02572.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0001 a0001c0002t0006	a0001c0002t0001g0269 a0001c0002t0006g0255 a0001c0002t0006g0256 a0001c0002t0001g0269 a0001c0002t0006g0255 a0001c0002t0006g0256	3	318	0.0094	12	c.220 others(27): Show c.220-138_220-137insAAAAAAAAAAAA	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	3/8			chr11	TogoVar
BBOX1_chr11_27035815_27132809	27057064	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp2 HG02717.hp1 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0015 a0001c0002t0009 a0001c0002t0015	a0001c0002t0009g0175 a0001c0002t0015g0174 a0001c0002t0009g0175 a0001c0002t0015g0174	2	318	0.0063	12	c.220 others(27): Show c.220-127_220-116dupAAAAAAAAAAAA	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBOX1_chr11_27035815_27132809	27085555	A A	ATCTCTCT others(5): Show ATCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03654.hp1 HG04184.hp1 HG03471.hp2 HG03654.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0064 a0001c0002t0004g0128 a0001c0002t0004g0129 a0001c0001t0001g0064 a0001c0002t0004g0128 a0001c0002t0004g0129	3	318	0.0094	12	c.335 others(29): Show c.335-7583_335-7572dupCTCTCTCTCTCT	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBS12_chr4_122727704_122749939	122733376	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0099 a0002c0002t0002g0099	1	364	0.0028	12	c.-11 others(27): Show c.-11+530_-11+541dupCACACACACACA	BBS12	ENSG00000181004.10	transcript	ENST00000314218.8	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr4	TogoVar
BBS2_chr16_56479385_56525024	56480356	A A	AAAAAAAA others(5): Show AAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	398	0.0025	12	c.44 others(23): Show c.4404_*4405insGTTTTTTTTTTT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4028		chr16	TogoVar
BBS2_chr16_56479385_56525024	56480359	A A	AAAAACAA others(5): Show AAAAACAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA19062.hp2 NA19086.hp2 NA18949.hp2 NA19062.hp2 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0265 a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0265	3	398	0.0075	12	c.44 others(23): Show c.4401_*4402insGTTTTTTGTTTT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4025		chr16	TogoVar
BBS4_chr15_72681207_72743473	72687124	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	398	0.0025	12	c.24+ others(25): Show c.24+883_24+884insTTTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72689780	T T	TTTTATTT others(5): Show TTTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG01884.hp2 others(16): Show HG00544.hp1 HG00544.hp2 HG01884.hp2 HG02071.hp2 HG02165.hp2 HG02258.hp2 HG02896.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 NA18612.hp2 NA18939.hp2 NA18965.hp1 NA18978.hp2 NA18981.hp2 NA19010.hp2 NA19064.hp2 NA19078.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0003t0001	a0001c0001t0001g0154 a0001c0001t0001g0337 a0001c0001t0001g0392 others(16): Show a0001c0001t0001g0154 a0001c0001t0001g0337 a0001c0001t0001g0392 a0001c0001t0001g0393 a0001c0001t0002g0153 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0172 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0270 a0001c0001t0002g0394 a0001c0001t0010g0268 a0001c0003t0001g0008	19	398	0.0477	12	c.24+ others(27): Show c.24+3565_24+3576dupATTTATTTATTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72710195	G G	GTTCTTTT others(5): Show GTTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	398	0.0025	12	c.156 others(27): Show c.156+418_156+419insCTTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72713314	G G	GACACACA others(5): Show GACACACACACAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA18939.hp1 NA18965.hp2 others(2): Show HG01255.hp1 NA18939.hp1 NA18965.hp2 NA18994.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0313 a0001c0001t0001g0369 a0001c0004t0001g0374 others(2): Show a0001c0001t0001g0313 a0001c0001t0001g0369 a0001c0004t0001g0374 a0001c0004t0001g0381 a0001c0004t0001g0386	5	398	0.0126	12	c.220 others(29): Show c.220+1032_220+1043dupACACACACACAC	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72713347	A A	ACACACAC others(5): Show ACACACACACACG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0185 a0002c0002t0001g0185	1	398	0.0025	12	c.220 others(29): Show c.220+1043_220+1044insACACACACGCAC	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72725765	C C	CCCCCTTC others(5): Show CCCCCTTCCTCTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00438.hp2 others(92): Show HG00140.hp2 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG01358.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02273.hp2 HG02300.hp1 HG02647.hp2 HG03195.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG03669.hp2 HG03831.hp2 NA18612.hp1 NA18942.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19030.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19062.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19080.hp2 NA19081.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp2	a0001 a0006 a0010 a0001 a0006 a0010	a0001c0001 a0006c0010 a0010c0013 a0001c0001 a0006c0010 a0010c0013	a0001c0001t0001 a0001c0001t0002 a0006c0010t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0006c0010t0001 a0010c0013t0001	a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 others(92): Show a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0277 a0001c0001t0001g0349 a0001c0001t0002g0165 a0006c0010t0001g0089 a0010c0013t0001g0031	95	398	0.2387	12	c.587 others(29): Show c.587+1121_587+1132dupTTCCCCTTCCTC	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS7_chr4_121819329_121875474	121832009	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02451.hp2 HG02622.hp2 others(5): Show HG01069.hp2 HG02451.hp2 HG02622.hp2 HG02717.hp1 HG03195.hp1 HG03927.hp1 NA18906.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0024 a0001c0001t0001g0095 a0001c0001t0001g0143 others(4): Show a0001c0001t0001g0024 a0001c0001t0001g0095 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0170 a0001c0001t0003g0124	8	374	0.0214	12	c.167 others(31): Show c.1676+1210_1676+1221dupGTGTGTGTGTGT	BBS7	ENSG00000138686.10	transcript	ENST00000264499.9	protein_coding	15/18			chr4	TogoVar
BBS9_chr7_33124564_33611069	33188080	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01358.hp2 HG02015.hp2 others(12): Show HG00280.hp1 HG01358.hp2 HG02015.hp2 HG02056.hp2 HG02129.hp2 HG03195.hp1 HG03927.hp1 NA18951.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18964.hp1 NA19082.hp2 NA19085.hp2 NA19090.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0003c0003 a0009c0008 a0001c0001 a0003c0003 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0003c0003t0001 a0009c0008t0001	a0001c0001t0001g0191 a0001c0001t0001g0200 a0001c0001t0001g0201 others(12): Show a0001c0001t0001g0191 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0002g0190 a0001c0001t0002g0199 a0001c0001t0005g0202 a0001c0001t0005g0218 a0003c0003t0001g0205 a0003c0003t0001g0207 a0003c0003t0001g0208 a0009c0008t0001g0122	15	268	0.0560	12	c.442 others(31): Show c.442+10510_442+10521dupTGTGTGTGTGTG	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33249226	G G	GACACACA others(5): Show GACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp1 HG02809.hp1 others(1): Show HG02559.hp1 HG02572.hp1 HG02809.hp1 HG02818.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0182 a0004c0004t0001g0183 a0004c0004t0001g0184 others(1): Show a0004c0004t0001g0182 a0004c0004t0001g0183 a0004c0004t0001g0184 a0004c0004t0001g0186	4	268	0.0149	12	c.443 others(29): Show c.443-7995_443-7984dupACACACACACAC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33294307	A A	ATCTATCT others(5): Show ATCTATCTATCTG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0114 a0001c0001t0001g0083 a0001c0001t0001g0114	2	268	0.0075	12	c.101 others(33): Show c.1016+20362_1016+20363insGTCTATCTATCT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33328993	T T	TTTTATTT others(5): Show TTTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01891.hp2 HG02074.hp1 others(7): Show HG00140.hp1 HG01891.hp2 HG02074.hp1 HG02129.hp1 HG02258.hp1 HG02976.hp1 HG06807.hp2 NA18906.hp1 NA19082.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0082 a0001c0001t0001g0110 a0001c0001t0001g0163 others(7): Show a0001c0001t0001g0082 a0001c0001t0001g0110 a0001c0001t0001g0163 a0001c0001t0001g0174 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0002g0152 a0001c0001t0006g0102	10	268	0.0373	12	c.101 others(31): Show c.1017-7424_1017-7413dupATTTATTTATTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33368577	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0168 a0001c0023t0001g0168	1	268	0.0037	12	c.178 others(29): Show c.1789+744_1789+755dupACACACACACAC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33492811	A A	AGTGTGTG others(5): Show AGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp2 HG02572.hp2 others(3): Show HG00733.hp1 HG00733.hp2 HG02572.hp2 HG02735.hp1 HG02897.hp2 NA20805.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0018 a0001c0001 a0012c0018	a0001c0001t0001 a0001c0001t0002 a0012c0018t0001 a0001c0001t0001 a0001c0001t0002 a0012c0018t0001	a0001c0001t0001g0109 a0001c0001t0001g0153 a0001c0001t0001g0169 others(3): Show a0001c0001t0001g0109 a0001c0001t0001g0153 a0001c0001t0001g0169 a0001c0001t0001g0221 a0001c0001t0002g0172 a0012c0018t0001g0127	6	268	0.0224	12	c.211 others(33): Show c.2116-12619_2116-12608dupGTGTGTGTGTGT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33596359	T T	TTATCTAT others(5): Show TTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00423.hp2 others(72): Show HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01109.hp2 HG01175.hp2 HG01255.hp1 HG01358.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG02015.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02630.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG03130.hp2 HG03209.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03927.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18942.hp2 NA18945.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp2 NA18982.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19043.hp1 NA19056.hp2 NA19063.hp1 NA19081.hp1 NA19082.hp2 NA19085.hp1 NA19090.hp1 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0009 a0001c0026 others(7): Show a0001c0001 a0001c0009 a0001c0026 a0002c0002 a0003c0003 a0004c0004 a0005c0011 a0005c0012 a0006c0005 a0007c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0009t0001 a0001c0026t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0003c0003t0001 a0004c0004t0001 a0005c0011t0001 a0005c0012t0015 a0006c0005t0001 a0007c0006t0005	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0049 others(72): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0191 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0002g0105 a0001c0001t0002g0120 a0001c0001t0002g0199 a0001c0001t0002g0247 a0001c0001t0003g0010 a0001c0001t0003g0027 a0001c0001t0004g0007 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0202 a0001c0001t0005g0218 a0001c0001t0008g0232 a0001c0009t0001g0240 a0001c0009t0001g0241 a0001c0026t0001g0068 a0002c0002t0001g0130 a0002c0002t0001g0193 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0003g0018 a0002c0002t0003g0023 a0002c0002t0003g0026 a0002c0002t0003g0028 a0002c0002t0004g0006 a0003c0003t0001g0205 a0004c0004t0001g0182 a0004c0004t0001g0186 a0005c0011t0001g0236 a0005c0011t0001g0238 a0005c0012t0015g0237 a0006c0005t0001g0140 a0007c0006t0005g0091	75	268	0.2799	12	c.252 others(31): Show c.2522-8482_2522-8471dupCTATCTATCTAT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33596391	C C	CTATCTAT others(5): Show CTATCTATCTATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01261.hp2 HG02965.hp1 others(3): Show HG01109.hp1 HG01261.hp2 HG02965.hp1 NA18946.hp2 NA19083.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0161 others(3): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0161 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0245	6	268	0.0224	12	c.252 others(31): Show c.2522-8471_2522-8470insCTATCTATATAT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBX_chr3_107517962_107816339	107565443	T T	TTTTATTT others(5): Show TTTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01099.hp2 HG01978.hp2 others(10): Show HG00738.hp2 HG01099.hp2 HG01978.hp2 HG02071.hp1 HG02132.hp2 HG02451.hp2 HG02886.hp1 HG02976.hp2 HG04204.hp1 NA18906.hp1 NA18962.hp1 NA18971.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0019 a0001c0001t0027 a0001c0001t0040	a0001c0001t0001g0018 a0001c0001t0002g0065 a0001c0001t0002g0162 others(10): Show a0001c0001t0001g0018 a0001c0001t0002g0065 a0001c0001t0002g0162 a0001c0001t0003g0132 a0001c0001t0003g0152 a0001c0001t0003g0173 a0001c0001t0004g0017 a0001c0001t0004g0218 a0001c0001t0005g0141 a0001c0001t0013g0079 a0001c0001t0019g0080 a0001c0001t0027g0097 a0001c0001t0040g0081	13	222	0.0586	12	c.-84 others(31): Show c.-84+39071_-84+39082dupTTATTTATTTAT	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107692170	T T	TTTTATTT others(5): Show TTTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02451.hp2 HG02809.hp2 others(11): Show HG01081.hp2 HG02451.hp2 HG02809.hp2 HG02818.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp2 NA18906.hp1 NA18963.hp1 NA18988.hp2 NA19088.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0013 a0001c0001t0019 a0001c0001t0027 a0001c0001t0028 a0001c0001t0049 a0001c0004t0030	a0001c0001t0001g0018 a0001c0001t0002g0031 a0001c0001t0002g0048 others(11): Show a0001c0001t0001g0018 a0001c0001t0002g0031 a0001c0001t0002g0048 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0006g0175 a0001c0001t0006g0188 a0001c0001t0013g0133 a0001c0001t0013g0163 a0001c0001t0019g0092 a0001c0001t0027g0097 a0001c0001t0028g0143 a0001c0001t0049g0085 a0001c0004t0030g0176	14	222	0.0631	12	c.-9- others(29): Show c.-9-18259_-9-18248dupTATTTATTTATT	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107769227	T T	TAGATAGA others(5): Show TAGATAGACAGAC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02257.hp1 HG03139.hp2 others(2): Show HG02083.hp2 HG02257.hp1 HG03139.hp2 HG03453.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0206 a0001c0001t0002g0139 a0001c0001t0002g0209 others(2): Show a0001c0001t0001g0206 a0001c0001t0002g0139 a0001c0001t0002g0209 a0001c0001t0006g0026 a0001c0001t0006g0096	5	222	0.0225	12	c.907 others(29): Show c.907-3398_907-3397insTAGACAGACAGA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107769227	T T	TAGATAGA others(5): Show TAGATAGATAGAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0008	a0003c0003t0008g0118 a0003c0003t0008g0118	1	222	0.0045	12	c.907 others(29): Show c.907-3398_907-3397insTAGATAGACAGA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107778994	C C	CATATATA others(5): Show CATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01168.hp1 HG01934.hp2 others(1): Show HG01099.hp2 HG01168.hp1 HG01934.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0152 a0001c0001t0003g0170 a0001c0001t0003g0173 others(1): Show a0001c0001t0003g0152 a0001c0001t0003g0170 a0001c0001t0003g0173 a0001c0001t0004g0182	4	222	0.0180	12	c.220 others(29): Show c.2203+491_2203+502dupTATATATATATA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107797337	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	222	0.0045	12	c.235 others(31): Show c.2354-1170_2354-1159dupTATATATATATA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BCAN_chr1_156637117_156664528	156643631	C C	CAGAGAGA others(5): Show CAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0154 a0002c0013t0001g0154	1	420	0.0024	12	c.-9+ others(27): Show c.-9+1357_-9+1358insGAGAGAGAGAGA	BCAN	ENSG00000132692.19	transcript	ENST00000329117.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
BCAN_chr1_156637117_156664528	156643633	C C	CAGAGAGA others(5): Show CAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02083.hp2 HG02132.hp1 others(16): Show HG01168.hp1 HG02083.hp2 HG02132.hp1 HG02698.hp2 HG02735.hp1 HG02886.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03704.hp1 HG03831.hp1 HG03942.hp1 HG04184.hp1 HG04184.hp2 NA18960.hp2 NA18974.hp2 NA18986.hp1 NA19005.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0002c0003 a0009c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0005t0001 a0002c0002t0001 a0002c0003t0001 a0002c0003t0002 a0009c0018t0002	a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0002g0122 others(14): Show a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0002g0122 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0005g0117 a0001c0005t0001g0121 a0002c0002t0001g0028 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0123 a0002c0002t0001g0247 a0002c0003t0001g0120 a0002c0003t0001g0125 a0002c0003t0002g0027 a0009c0018t0002g0124	19	420	0.0452	12	c.-9+ others(27): Show c.-9+1359_-9+1360insGAGAGAGAGAGA	BCAN	ENSG00000132692.19	transcript	ENST00000329117.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
BCAN_chr1_156637117_156664528	156643635	C C	CACACACA others(5): Show CACACACAGAGAG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	420	0.0024	12	c.-9+ others(27): Show c.-9+1361_-9+1362insCACACAGAGAGA	BCAN	ENSG00000132692.19	transcript	ENST00000329117.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
BCAN_chr1_156637117_156664528	156643635	C C	CAGAGAGA others(5): Show CAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG04228.hp2 NA18612.hp1 others(2): Show HG03492.hp1 HG04228.hp2 NA18612.hp1 NA18965.hp1 NA19003.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0169 others(2): Show a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0169 a0002c0002t0001g0067 a0002c0002t0001g0302	5	420	0.0119	12	c.-9+ others(27): Show c.-9+1382_-9+1393dupGAGAGAGAGAGA	BCAN	ENSG00000132692.19	transcript	ENST00000329117.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
BCAP29_chr7_107575246_107625478	107591641	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	398	0.0025	12	c.194 others(29): Show c.194-2309_194-2298dupACACACACACAC	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107591656	A A	ACACACAC others(5): Show ACACACACACACC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	398	0.0025	12	c.194 others(29): Show c.194-2298_194-2297insACACACACACCC	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107594489	T T	TTTTGTTT others(5): Show TTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18988.hp1 NA19006.hp1 others(1): Show HG02027.hp1 NA18988.hp1 NA19006.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0043 a0001c0001t0003g0230 a0001c0001t0003g0231 others(1): Show a0001c0001t0001g0043 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232	4	398	0.0101	12	c.344 others(27): Show c.344+400_344+411dupGTTTGTTTGTTT	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107599258	T T	TTTTATAT others(5): Show TTTTATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19043.hp1 HG02258.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0179 a0001c0001t0011g0182 a0001c0001t0011g0179 a0001c0001t0011g0182	2	398	0.0050	12	c.481 others(29): Show c.481-1128_481-1117dupTATTTATATATA	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107612391	T T	TTATATAT others(5): Show TTATATATATATA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18986.hp2 NA18953.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	2	398	0.0050	12	c.590 others(27): Show c.590-903_590-892dupATATATATATAT	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107612391	T T	TTTTATAT others(5): Show TTTTATATATATA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0272 a0001c0001t0002g0272	1	398	0.0025	12	c.590 others(27): Show c.590-940_590-939insTTATATATATAT	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107612433	A A	ATATTTAT others(5): Show ATATTTATTTATT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02622.hp2 HG02145.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0028 a0001c0001t0001g0033	2	398	0.0050	12	c.590 others(27): Show c.590-896_590-895insTTATTTATTTAT	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr7	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)