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
BFSP2_chr3_133395056_133480208	133424216	T T	TTGTGTGT others(33): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0053	1	276	0.0036	40	c.490 others(59): Show c.490-23100_490-23099insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGT	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133426004	G G	GCAGGGCA others(33): Show GCAGGGCAGGGAAAGGAAGGGAAGGGAAGGAAAGGGAAAGA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02056.hp1 HG02129.hp2 others(22): Show HG01255.hp2 HG02056.hp1 HG02129.hp2 HG02735.hp2 HG02738.hp2 HG03098.hp2 HG03453.hp1 HG03654.hp1 HG03669.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 NA18945.hp1 NA18946.hp1 NA18969.hp1 NA19000.hp2 NA19063.hp2 NA19074.hp1 NA19084.hp1 NA19084.hp2 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0055 a0001c0001t0001g0097 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0055 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0152 a0001c0001t0001g0184 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0002t0001g0028 a0001c0002t0001g0048 a0001c0002t0001g0107 a0001c0002t0001g0122 a0001c0002t0001g0126 a0001c0002t0001g0132 a0001c0002t0001g0151 a0001c0002t0001g0170 a0001c0002t0001g0210 a0001c0002t0001g0216 a0001c0002t0001g0221 a0001c0002t0001g0243 a0001c0008t0001g0125 a0002c0003t0001g0154	25	276	0.0906	40	c.490 others(59): Show c.490-21313_490-21312insCAGGGCAGGGAAAGGAAGGGAAGGGA AGGAAAGGGAAAGA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6			chr3	TogoVar
BFSP2_chr3_133395056_133480208	133449982	A A	AAAGGAAG others(33): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	276	0.0036	40	c.730 others(55): Show c.730-284_730-283insAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BHMT_chr5_79106809_79137288	79137035	C C	CATATGAA others(33): Show CATATGAATATATATATGAATATACATATATGAATATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	432	0.0023	40	c.59 others(51): Show c.5919_*5920insATATGAATATATATATGAATATACATATATGAAT ATACAT	BHMT	ENSG00000145692.15	transcript	ENST00000274353.10	protein_coding		4748		chr5	TogoVar
BICC1_chr10_58507872_58836435	58566154	G G	GTGTGTGT others(33): Show GTGTGTGTGTGTGTATATATACATATACACACGTGTGTATA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0074 a0002c0002t0010g0074	1	132	0.0076	40	c.190 others(59): Show c.190+52830_190+52831insGTGTATATATACATATACACACGTGT GTATATGTGTGTGT	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICD1_chr12_32101847_32388633	32142468	A A	ATCTATCT others(33): Show ATCTATCTATCTATCTATCTATCTATCTATCTATCTATCGG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02109.hp1 HG02129.hp1 others(19): Show HG00438.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02280.hp2 HG02300.hp1 HG02559.hp1 HG02622.hp1 HG02735.hp1 HG03491.hp2 HG03492.hp1 HG03831.hp2 NA18946.hp1 NA18947.hp2 NA18966.hp1 NA18975.hp1 NA18980.hp1 NA18999.hp2 NA19002.hp1 NA19064.hp2 NA19084.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0018 a0001c0001t0020 a0001c0001t0048 a0001c0002t0001 a0001c0002t0002 a0001c0002t0025 a0001c0003t0054 a0001c0004t0062	a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0059 others(19): Show a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0089 a0001c0001t0001g0255 a0001c0001t0003g0177 a0001c0001t0003g0216 a0001c0001t0008g0119 a0001c0001t0009g0054 a0001c0001t0009g0055 a0001c0001t0009g0081 a0001c0001t0018g0219 a0001c0001t0018g0227 a0001c0001t0020g0217 a0001c0001t0048g0218 a0001c0002t0001g0069 a0001c0002t0002g0071 a0001c0002t0002g0075 a0001c0002t0002g0083 a0001c0002t0025g0065 a0001c0003t0054g0079 a0001c0004t0062g0040	22	290	0.0759	40	c.213 others(59): Show c.213+34945_213+34946insCTATCTATCTATCTATCGGTCTATCT ATCTATCTATCTAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BIN2_chr12_51276038_51329174	51323400	T T	TCTGAACA others(33): Show TCTGAACACAGATGTGGTTCATCACCCTGGGAGGTGTACTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02717.hp1 others(7): Show HG01891.hp2 HG02145.hp2 HG02717.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03471.hp2 HG03516.hp2 NA19240.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0017 a0001c0001t0001g0367 a0001c0001t0001g0372 others(6): Show a0001c0001t0001g0017 a0001c0001t0001g0367 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0376 a0003c0003t0001g0368 a0003c0003t0001g0369 a0003c0003t0001g0370 a0003c0003t0001g0371	10	400	0.0250	40	c.81+ others(53): Show c.81+582_81+621dupGAGTACACCTCCCAGGGTGATGAACCACATCT GTGTTCAG	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	1/12			chr12	TogoVar
BIRC6_chr2_32352023_32623878	32397634	A A	ATGTGTAT others(33): Show ATGTGTATATATATATACACACACACACATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0011 a0011	a0011c0028 a0011c0028	a0011c0028t0002 a0011c0028t0002	a0011c0028t0002g0179 a0011c0028t0002g0179	1	274	0.0037	40	c.103 others(59): Show c.1034+2042_1034+2043insGTGTATATATATATACACACACACAC ATATATGTGTGTGT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	6/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32508276	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	274	0.0037	40	c.998 others(55): Show c.9980+44_9980+45insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	51/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32578979	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	274	0.0037	40	c.133 others(61): Show c.13355+3624_13355+3625insTATATATATATATATATATATATA TATATATATATATATA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	66/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BLOC1S4_chr4_6711174_6722664	6716006	C C	CAGCGCGC others(33): Show CAGCGCGCATGCGTGAGCGTGAGCGCGCATGCGTGAGCGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG02818.hp1 NA19030.hp1 HG00408.hp2 HG02818.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	3	458	0.0066	40	c.-20 others(49): Show c.-204_-203insAGCGCGCATGCGTGAGCGTGAGCGCGCATGCGTGAG CGTG	BLOC1S4	ENSG00000186222.5	transcript	ENST00000320776.5	protein_coding		167		chr4	TogoVar
BLTP3B_chr12_100032072_100147874	100140729	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0012 a0012	a0012c0028 a0012c0028	a0012c0028t0001 a0012c0028t0001	a0012c0028t0001g0087 a0012c0028t0001g0087	1	188	0.0053	40	c.44+ others(55): Show c.44+1862_44+1863insATATATATATATATATATATATATATATAT ATATATATAT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLVRA_chr7_43753680_43812342	43758344	C C	CGGGGCCA others(33): Show CGGGGCCAGGCACACCGTGAGGGGGCCAGGCACACCGTGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0014 a0001c0005t0001g0014	1	414	0.0024	40	c.-41 others(49): Show c.-412_-411insGGGGCCAGGCACACCGTGAGGGGGCCAGGCACACCG TGAG	BLVRA	ENSG00000106605.11	transcript	ENST00000265523.9	protein_coding		335		chr7	TogoVar
BLVRB_chr19_40442768_40470745	40460245	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0149 a0001c0002t0001g0149	1	362	0.0028	40	c.80- others(55): Show c.80-1701_80-1700insATATATATATATATATATATATATATATAT ATATATATAT	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	1/4			chr19	TogoVar
BLVRB_chr19_40442768_40470745	40460247	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0128 a0001c0003t0001g0128	1	362	0.0028	40	c.80- others(55): Show c.80-1703_80-1702insATATATATATATATATATATATATATATAT ATATATATAT	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	1/4			chr19	TogoVar
BMF_chr15_40082890_40113879	40113056	C C	CGTGTGGG others(33): Show CGTGTGGGGGGGGTGTGTGCGTGTGTGTGTGCGTGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA19000.hp2 NA18953.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0014 a0001c0001t0004 a0001c0001t0014	a0001c0001t0004g0270 a0001c0001t0014g0238 a0001c0001t0004g0270 a0001c0001t0014g0238	2	414	0.0048	40	c.-44 others(51): Show c.-4418_-4417insCCCCCCCACGCACACACACACGCACACACCCCCC CCACAC	BMF	ENSG00000104081.14	transcript	ENST00000354670.9	protein_coding		4178		chr15	TogoVar
BMF_chr15_40082890_40113879	40113056	C C	CGTGTGGG others(33): Show CGTGTGGGGGGGTGTGTGCGTGCGTGTGTGCGTGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02280.hp2 HG02486.hp2 others(3): Show HG02109.hp2 HG02280.hp2 HG02486.hp2 HG02622.hp1 HG02717.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0001t0014	a0001c0001t0001g0133 a0001c0001t0002g0130 a0001c0001t0005g0129 others(3): Show a0001c0001t0001g0133 a0001c0001t0002g0130 a0001c0001t0005g0129 a0001c0001t0005g0131 a0001c0001t0013g0134 a0001c0001t0014g0128	6	414	0.0145	40	c.-44 others(51): Show c.-4418_-4417insCCCCCCCCACGCACACACGCACGCACACACCCCC CCACAC	BMF	ENSG00000104081.14	transcript	ENST00000354670.9	protein_coding		4178		chr15	TogoVar
BMF_chr15_40082890_40113879	40113056	C C	CGTGTGGG others(33): Show CGTGTGGGGGGGTGTGTGCGTGTGTGTGTGCGTGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG04199.hp1 HG01109.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0299 a0001c0001t0005g0311 a0001c0001t0002g0299 a0001c0001t0005g0311	2	414	0.0048	40	c.-44 others(51): Show c.-4418_-4417insCCCCCCCCACGCACACACACACGCACACACCCCC CCACAC	BMF	ENSG00000104081.14	transcript	ENST00000354670.9	protein_coding		4178		chr15	TogoVar
BMF_chr15_40082890_40113879	40113056	C C	CGTGTGGG others(33): Show CGTGTGGGGGGTGTGTGTGCGTGCGTGTGTGCGTGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0077 a0001c0001t0047g0077	1	414	0.0024	40	c.-44 others(51): Show c.-4418_-4417insCCCCCCCACGCACACACGCACGCACACACACCCC CCACAC	BMF	ENSG00000104081.14	transcript	ENST00000354670.9	protein_coding		4178		chr15	TogoVar
BMPER_chr7_33900539_34161427	33940825	A A	ATATATTA others(33): Show ATATATTATATATATTTATATATAATAGAATTTATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19043.hp1 HG02258.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0007 a0001c0004t0030 a0001c0001t0007 a0001c0004t0030	a0001c0001t0007g0004 a0001c0004t0030g0003 a0001c0001t0007g0004 a0001c0004t0030g0003	2	232	0.0086	40	c.319 others(57): Show c.319+3444_319+3445insTATATATTTATATATAATAGAATTTATA TATATTATATTA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34129630	G G	GAGAGAGA others(33): Show GAGAGAGAGAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0079 a0001c0001t0006g0079	1	232	0.0043	40	c.174 others(61): Show c.1746-13597_1746-13596insGAGAGAGAAAGAGAGAAAGAAAGA AAGAAAGAAAGAAAGA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPR1A_chr10_86751619_86932969	86824105	G G	GTGTGTGT others(33): Show GTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp1 HG01071.hp2 others(12): Show HG00099.hp2 HG00621.hp1 HG01071.hp2 HG01978.hp1 HG01981.hp2 HG02129.hp2 HG04228.hp1 NA18943.hp2 NA18951.hp2 NA18952.hp2 NA18965.hp2 NA18971.hp1 NA18972.hp2 NA19068.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0003 a0001c0002t0004 a0001c0002t0016 others(4): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0016 a0001c0002t0017 a0001c0002t0029 a0001c0002t0030 a0002c0001t0008	a0001c0002t0003g0081 a0001c0002t0003g0103 a0001c0002t0003g0110 others(12): Show a0001c0002t0003g0081 a0001c0002t0003g0103 a0001c0002t0003g0110 a0001c0002t0003g0275 a0001c0002t0004g0067 a0001c0002t0004g0277 a0001c0002t0016g0094 a0001c0002t0016g0099 a0001c0002t0016g0108 a0001c0002t0017g0039 a0001c0002t0017g0117 a0001c0002t0029g0066 a0001c0002t0030g0139 a0002c0001t0008g0056 a0002c0001t0008g0057	15	278	0.0540	40	c.-26 others(61): Show c.-267-14753_-267-14752insGTGTGTGTGTGTTTGTGTGTGTGT GTGTGTGTTTGTGTGT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(33): Show CACACACACACACACATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0158 a0001c0003t0020g0158	1	278	0.0036	40	c.75 others(51): Show c.7579_*7580insACACACACACACACATATATATATATATATATAT ATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(33): Show CACACACACACATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0155 a0001c0002t0021g0155	1	278	0.0036	40	c.75 others(51): Show c.7579_*7580insACACACACACATATATATATATATATATATATAT ATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(33): Show CACACACACATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG02486.hp1 HG01934.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0021 a0001c0002t0003 a0001c0002t0021	a0001c0002t0003g0109 a0001c0002t0021g0154 a0001c0002t0003g0109 a0001c0002t0021g0154	2	278	0.0072	40	c.75 others(51): Show c.7579_*7580insACACACACATATATATATATATATATATATATAT ATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(33): Show CACACACATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 NA18943.hp2 NA19007.hp1 HG01981.hp2 NA18943.hp2 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0016 a0001c0002t0030 a0001c0002t0004 a0001c0002t0016 a0001c0002t0030	a0001c0002t0004g0100 a0001c0002t0016g0108 a0001c0002t0030g0139 a0001c0002t0004g0100 a0001c0002t0016g0108 a0001c0002t0030g0139	3	278	0.0108	40	c.75 others(51): Show c.7579_*7580insACACACATATATATATATATATATATATATATAT ATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACATA others(33): Show CACACATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0090 a0001c0002t0017g0090	1	278	0.0036	40	c.75 others(51): Show c.7579_*7580insACACATATATATATATATATATATATATATATAT ATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1B_chr4_94752955_95163448	94980991	T T	TCACACAC others(33): Show TCACACACACACACGCGCGCATACGCGTGCGCGCGCGCACA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0223 a0001c0001t0039g0223	1	226	0.0044	40	c.-11 others(61): Show c.-112-15036_-112-15035insGCGCGCATACGCGTGCGCGCGCGC ACACACACACACACAC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BNC2_chr9_16404503_16875670	16861181	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA19056.hp2 HG03669.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0083 a0001c0001t0042 a0001c0001t0083	a0001c0001t0042g0059 a0001c0001t0083g0004 a0001c0001t0042g0059 a0001c0001t0083g0004	2	176	0.0114	40	c.3+9 others(53): Show c.3+9464_3+9465insATATATATATATATATATATATATATATATAT ATATATAT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	1/6			chr9	TogoVar
BOC_chr3_113206557_113292459	113236294	A A	ATATATAC others(33): Show ATATATACCCATGGGTATATATATATATATATACCCATGGG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03453.hp1 HG02723.hp1 HG03453.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0197 a0001c0012t0001g0376 a0001c0012t0001g0197 a0001c0012t0001g0376	2	386	0.0052	40	c.-81 others(59): Show c.-81-13422_-81-13421insCCCATGGGTATATATATATATATATA CCCATGGGTATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113260721	A A	AAGAACAG others(33): Show AAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01361.hp1 HG01361.hp2 others(10): Show HG01256.hp1 HG01361.hp1 HG01361.hp2 HG02155.hp2 HG02300.hp1 HG02698.hp1 HG03195.hp1 HG03710.hp2 HG04199.hp2 NA18948.hp2 NA18967.hp2 NA19074.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0015 a0001c0002 a0001c0010 a0001c0015	a0001c0002t0002 a0001c0002t0022 a0001c0002t0026 others(3): Show a0001c0002t0002 a0001c0002t0022 a0001c0002t0026 a0001c0002t0045 a0001c0010t0008 a0001c0015t0001	a0001c0002t0002g0027 a0001c0002t0002g0174 a0001c0002t0002g0284 others(10): Show a0001c0002t0002g0027 a0001c0002t0002g0174 a0001c0002t0002g0284 a0001c0002t0002g0315 a0001c0002t0002g0330 a0001c0002t0002g0335 a0001c0002t0002g0354 a0001c0002t0002g0370 a0001c0002t0022g0265 a0001c0002t0026g0274 a0001c0002t0045g0110 a0001c0010t0008g0209 a0001c0015t0001g0179	13	386	0.0337	40	c.377 others(57): Show c.377-7546_377-7545insAACAGAACAGAACAGAACAGAACAGAAC AGAACAGAACAG	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113260721	A A	ACAGAAAG others(33): Show ACAGAAAGAACAGAACAGAACAGAACAGAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02040.hp2 HG02056.hp2 others(10): Show HG00438.hp1 HG02040.hp2 HG02056.hp2 HG02738.hp2 HG03710.hp1 HG06807.hp1 NA18612.hp2 NA18951.hp1 NA18963.hp1 NA19005.hp2 NA19054.hp1 NA19087.hp1 NA19091.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0008 a0001c0010 others(1): Show a0001c0002 a0001c0008 a0001c0010 a0004c0011	a0001c0002t0002 a0001c0002t0008 a0001c0008t0011 others(2): Show a0001c0002t0002 a0001c0002t0008 a0001c0008t0011 a0001c0010t0008 a0004c0011t0011	a0001c0002t0002g0010 a0001c0002t0002g0015 a0001c0002t0002g0053 others(10): Show a0001c0002t0002g0010 a0001c0002t0002g0015 a0001c0002t0002g0053 a0001c0002t0002g0064 a0001c0002t0002g0067 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0235 a0001c0002t0002g0345 a0001c0002t0008g0365 a0001c0008t0011g0143 a0001c0010t0008g0211 a0004c0011t0011g0145	13	386	0.0337	40	c.377 others(57): Show c.377-7578_377-7577insCAGAAAGAACAGAACAGAACAGAACAGA ACAGAACAGAAC	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	4/19			chr3	TogoVar
BOC_chr3_113206557_113292459	113260721	A A	ACAGAACA others(33): Show ACAGAACAGAAAGAACAGAACAGAACAGAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA18999.hp1 NA19060.hp2 HG00738.hp1 NA18999.hp1 NA19060.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0015 a0001c0002 a0001c0008 a0001c0015	a0001c0002t0002 a0001c0008t0004 a0001c0015t0001 a0001c0002t0002 a0001c0008t0004 a0001c0015t0001	a0001c0002t0002g0021 a0001c0008t0004g0038 a0001c0015t0001g0083 a0001c0002t0002g0021 a0001c0008t0004g0038 a0001c0015t0001g0083	3	386	0.0078	40	c.377 others(57): Show c.377-7578_377-7577insCAGAACAGAAAGAACAGAACAGAACAGA ACAGAACAGAAC	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	4/19			chr3	TogoVar
BOC_chr3_113206557_113292459	113260721	A A	ACAGAACA others(33): Show ACAGAACAGAACAGAAAGAACAGAACAGAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0196 a0001c0002t0002g0196	1	386	0.0026	40	c.377 others(57): Show c.377-7578_377-7577insCAGAACAGAACAGAAAGAACAGAACAGA ACAGAACAGAAC	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	4/19			chr3	TogoVar
BOK_chr2_241553745_241579131	241558052	G G	GAAACAGA others(33): Show GAAACAGACACACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	434	0.0023	40	c.-97 others(49): Show c.-971_-970insAAACAGACACACACACACACACACACACACACACAC ACAC	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding		692		chr2	TogoVar
BOK_chr2_241553745_241579131	241573135	T T	TGGTGAAG others(33): Show TGGTGAAGGGGCCCGGAACACCTGCTCTCACCTGAGCCCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00438.hp2 others(94): Show HG00099.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00639.hp2 HG00673.hp2 HG01175.hp1 HG01346.hp2 HG01891.hp2 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG03017.hp2 HG03041.hp2 HG03195.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18960.hp1 NA18962.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18982.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19003.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp1 NA19059.hp2 NA19060.hp1 NA19065.hp2 NA19074.hp1 NA19080.hp1 NA19081.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19090.hp1 NA20129.hp2 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0008 a0005c0010 a0001c0001 a0001c0008 a0005c0010	a0001c0001t0002 a0001c0001t0013 a0001c0001t0015 others(6): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0015 a0001c0001t0021 a0001c0001t0032 a0001c0001t0038 a0001c0001t0039 a0001c0008t0002 a0005c0010t0002	a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0019 others(72): Show a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0067 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0178 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0223 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0241 a0001c0001t0002g0249 a0001c0001t0002g0253 a0001c0001t0002g0257 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0013g0076 a0001c0001t0013g0087 a0001c0001t0013g0090 a0001c0001t0013g0092 a0001c0001t0013g0099 a0001c0001t0015g0016 a0001c0001t0015g0157 a0001c0001t0021g0003 a0001c0001t0021g0029 a0001c0001t0021g0181 a0001c0001t0032g0240 a0001c0001t0038g0117 a0001c0001t0039g0214 a0001c0008t0002g0115 a0005c0010t0002g0126	97	434	0.2235	40	c.73 others(49): Show c.733_*734insCTGCTCTCACCTGAGCCCCAGGTGAAGGGGCCCGGA ACAC	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	5/5	734	INFO_REALIGN_3_PRIME	chr2	TogoVar
BOK_chr2_241553745_241579131	241573156	T T	TTGCTCTC others(33): Show TTGCTCTCACCTGAGCCCCAGGTGAAGGGGCCCGGAACACC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(186): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18987.hp1 NA18990.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA18997.hp1 NA18999.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp2 NA19059.hp1 NA19060.hp2 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19074.hp2 NA19080.hp2 NA19081.hp2 NA19086.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0009 others(2): Show a0001c0001 a0001c0002 a0001c0009 a0002c0003 a0004c0005	a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 others(17): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0024 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0001t0035 a0001c0001t0042 a0001c0001t0043 a0001c0001t0050 a0001c0002t0001 a0001c0009t0001 a0002c0003t0028 a0004c0005t0007	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 others(109): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0233 a0001c0001t0001g0238 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0007g0008 a0001c0001t0007g0054 a0001c0001t0007g0187 a0001c0001t0007g0188 a0001c0001t0007g0222 a0001c0001t0007g0267 a0001c0001t0007g0268 a0001c0001t0007g0287 a0001c0001t0007g0288 a0001c0001t0010g0006 a0001c0001t0010g0113 a0001c0001t0014g0001 a0001c0001t0014g0229 a0001c0001t0014g0232 a0001c0001t0016g0159 a0001c0001t0016g0180 a0001c0001t0016g0247 a0001c0001t0016g0248 a0001c0001t0018g0078 a0001c0001t0018g0081 a0001c0001t0018g0082 a0001c0001t0018g0097 a0001c0001t0020g0035 a0001c0001t0020g0176 a0001c0001t0024g0044 a0001c0001t0024g0228 a0001c0001t0026g0102 a0001c0001t0026g0210 a0001c0001t0029g0149 a0001c0001t0029g0182 a0001c0001t0030g0050 a0001c0001t0033g0239 a0001c0001t0035g0110 a0001c0001t0042g0169 a0001c0001t0043g0008 a0001c0001t0050g0083 a0001c0002t0001g0013 a0001c0002t0001g0036 a0001c0002t0001g0059 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0009t0001g0135 a0002c0003t0028g0033 a0004c0005t0007g0192	189	434	0.4355	40	c.75 others(49): Show c.753_*792dupAGGTGAAGGGGCCCGGAACACCTGCTCTCACCTGAG CCCC	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	5/5	793	INFO_REALIGN_3_PRIME	chr2	TogoVar
BOK_chr2_241553745_241579131	241573238	G G	GCTCTCAC others(33): Show GCTCTCACCTGAGCCCCAGGTGAAGGGGCCCGGAACACCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0117 a0001c0001t0038g0117	1	434	0.0023	40	c.85 others(49): Show c.859_*898dupCTCACCTGAGCCCCAGGTGAAGGGGCCCGGAACACC TCCT	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	5/5	899	INFO_REALIGN_3_PRIME	chr2	TogoVar
BOP1_chr8_144257045_144296438	144262838	G G	GCCCCCCC others(33): Show GCCCCCCCCCCACCCCTCACCTGCAGGGTACACCGCCCCCC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0045 a0001c0002t0001g0045	1	398	0.0025	40	c.189 others(55): Show c.1894+14_1894+15insGGGGGGCGGTGTACCCTGCAGGTGAGGGGT GGGGGGGGGG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	13/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144262838	G G	GCCCCCCC others(33): Show GCCCCCCCCCCCACCCCTCACCTGCAGGGTACACCGCCCCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0173 a0001c0002t0001g0173	1	398	0.0025	40	c.189 others(55): Show c.1894+14_1894+15insGGGGGCGGTGTACCCTGCAGGTGAGGGGTG GGGGGGGGGG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	13/15			chr8	TogoVar
BPIFA1_chr20_33230996_33248306	33231154	G G	GAAGGAAG others(33): Show GAAGGAAGGAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	382	0.0026	40	c.-49 others(51): Show c.-4912_-4911insAAGGAAGGAAGAAAGGAAGGAAGGAAGGAAGGAA GGAAGA	BPIFA1	ENSG00000198183.13	transcript	ENST00000354297.9	protein_coding		4841		chr20	TogoVar
BPIFA1_chr20_33230996_33248306	33231205	G G	GGAAGAAA others(33): Show GGAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	382	0.0026	40	c.-48 others(51): Show c.-4861_-4860insGAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAA	BPIFA1	ENSG00000198183.13	transcript	ENST00000354297.9	protein_coding		4790		chr20	TogoVar
BPIFA3_chr20_33212352_33232806	33231154	G G	GAAGGAAG others(33): Show GAAGGAAGGAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	416	0.0024	40	c.35 others(51): Show c.3537_*3538insAAGGAAGGAAGAAAGGAAGGAAGGAAGGAAGGAA GGAAGA	BPIFA3	ENSG00000131059.12	transcript	ENST00000375454.8	protein_coding		3349		chr20	TogoVar
BPIFA3_chr20_33212352_33232806	33231205	G G	GGAAGAAA others(33): Show GGAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0055 a0001c0007t0001g0055	1	416	0.0024	40	c.35 others(51): Show c.3588_*3589insGAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAA	BPIFA3	ENSG00000131059.12	transcript	ENST00000375454.8	protein_coding		3400		chr20	TogoVar
BPNT2_chr8_56952931_56998867	56956044	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG02083.hp2 HG02559.hp2 HG01433.hp2 HG02083.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0013 a0001c0001t0002g0209 a0001c0001t0006g0181 a0001c0001t0002g0013 a0001c0001t0002g0209 a0001c0001t0006g0181	3	356	0.0084	40	c.77 others(51): Show c.7748_*7749insATATATATATATATATATATATATATATATATAT ATATAT	BPNT2	ENSG00000104331.9	transcript	ENST00000262644.9	protein_coding		1886		chr8	TogoVar
BPNT2_chr8_56952931_56998867	56973114	T T	TCCACTGA others(33): Show TCCACTGATGCTTTGACCCTGAAGTCTGAAAGTACTTTGCC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	356	0.0028	40	c.646 others(57): Show c.646+4896_646+4935dupGGCAAAGTACTTTCAGACTTCAGGGTCA AAGCATCAGTGG	BPNT2	ENSG00000104331.9	transcript	ENST00000262644.9	protein_coding	3/4			chr8	TogoVar
BPTF_chr17_67820503_67989378	67917130	C C	CATTGTCC others(33): Show CATTGTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0012 a0002c0006t0002g0012	1	274	0.0037	40	c.530 others(59): Show c.5304-1584_5304-1583insATTGTCCTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	11/27			chr17	TogoVar
BRCA1_chr17_43039295_43130364	43100657	C C	CATATATA others(33): Show CATATATATATGTTATATATATATACATATATATAACATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03098.hp1 HG03139.hp2 HG02280.hp1 HG03098.hp1 HG03139.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0011 a0003c0003t0003 a0003c0003t0011	a0003c0003t0003g0123 a0003c0003t0003g0129 a0003c0003t0011g0109 a0003c0003t0003g0123 a0003c0003t0003g0129 a0003c0003t0011g0109	3	276	0.0109	40	c.442 others(55): Show c.442-778_442-777insATATGTTATATATATGTATATATATATAAC ATATATATAT	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	6/22			chr17	TogoVar
BRD1_chr22_49768283_49832873	49775816	C C	CCCCCCCC others(33): Show CCCCCCCCCCGCCCCCCGCAGCTGTGTGAGCCTCCTCAGAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	258	0.0039	40	c.323 others(55): Show c.3232-72_3232-71insATCTGAGGAGGCTCACACAGCTGCGGGGGG CGGGGGGGGG	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	11/12			chr22	TogoVar
BRF1_chr14_105204286_105306001	105248555	C C	CGGCGGGT others(33): Show CGGCGGGTACGGGCTCGGGCGGGCGGGTACGGGCTCGGGCG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	72	0.0139	40	c.544 others(57): Show c.544+3951_544+3952insCGCCCGAGCCCGTACCCGCCCGCCCGAG CCCGTACCCGCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	5/17			chr14	TogoVar

Search by Variant

Search

Search Results (Total: 6641 hits)