Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results 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
BIRC6_chr2_32352023_32623878	32461048	T T	TTCTCCTC others(23): Show TTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0042 a0002c0042	a0002c0042t0002 a0002c0042t0002	a0002c0042t0002g0106 a0002c0042t0002g0106	1	274	0.0037	30	c.475 others(49): Show c.4754-2142_4754-2141insCTCTCCTCTCCTCTCCTCTCCTCTCC TCTC	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32578979	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01255.hp2 others(21): Show HG01069.hp2 HG01071.hp1 HG01255.hp2 HG01258.hp1 HG01346.hp2 HG01891.hp2 HG01952.hp1 HG02040.hp2 HG02056.hp2 HG02293.hp1 HG02717.hp1 HG02922.hp1 HG03239.hp2 HG03688.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA19009.hp1 NA19054.hp2 NA19066.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0001c0021 a0002c0002 a0002c0035 a0003c0017 a0004c0019	a0001c0001t0001 a0001c0003t0002 a0001c0003t0003 others(7): Show a0001c0001t0001 a0001c0003t0002 a0001c0003t0003 a0001c0005t0001 a0001c0005t0002 a0001c0021t0002 a0002c0002t0003 a0002c0035t0012 a0003c0017t0003 a0004c0019t0003	a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0195 others(21): Show a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0257 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0003t0002g0130 a0001c0003t0003g0102 a0001c0003t0003g0124 a0001c0003t0003g0132 a0001c0005t0001g0212 a0001c0005t0001g0230 a0001c0005t0002g0099 a0001c0021t0002g0176 a0002c0002t0003g0163 a0002c0035t0012g0104 a0003c0017t0003g0136 a0004c0019t0003g0144	24	274	0.0876	30	c.133 others(51): Show c.13355+3624_13355+3625insTATATATATATATATATATATATA TATATA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	66/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIVM_chr13_102794119_102846533	102833327	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02818.hp1 NA19010.hp2 HG01358.hp2 HG02818.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0020 a0001c0001t0003 a0001c0001t0020	a0001c0001t0003g0220 a0001c0001t0003g0236 a0001c0001t0020g0291 a0001c0001t0003g0220 a0001c0001t0003g0236 a0001c0001t0020g0291	3	404	0.0074	30	c.103 others(49): Show c.1035-1121_1035-1120insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	BIVM	ENSG00000134897.14	transcript	ENST00000257336.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
BLID_chr11_122110340_122121215	122112071	C C	CAAACAAA others(23): Show CAAACAAAACAAAACAAAACAAAACAAAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG02129.hp2 HG02165.hp2 others(20): Show HG01099.hp2 HG02129.hp2 HG02165.hp2 HG02965.hp1 HG02970.hp1 HG03098.hp1 HG03579.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp1 HG04204.hp2 NA18949.hp1 NA18961.hp1 NA18961.hp2 NA18989.hp2 NA18994.hp2 NA19005.hp2 NA19063.hp2 NA19064.hp2 NA19068.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000	23	434	0.0530	30	c.35 others(41): Show c.3524_*3525insTGTTTTGTTTTGTTTTGTTTTGTTTTGTTT	BLID	ENSG00000259571.2	transcript	ENST00000560104.2	protein_coding		3268		chr11	TogoVar
BLK_chr8_11489387_11569599	11504367	G G	GAAAGAAA others(23): Show GAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0236 a0001c0001t0009g0236	1	308	0.0033	30	c.-2+ others(45): Show c.-2+9795_-2+9824dupGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLTP1_chr4_122147331_122367752	122355596	C C	CATATGTA others(23): Show CATATGTATATATATACATATGTGTCCATGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02559.hp2 HG02717.hp2 others(3): Show HG02055.hp1 HG02559.hp2 HG02717.hp2 HG02818.hp2 HG03486.hp1 HG06807.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0001 a0001c0005t0002g0004 a0001c0005t0002g0005 others(2): Show a0001c0005t0002g0001 a0001c0005t0002g0004 a0001c0005t0002g0005 a0001c0005t0002g0006 a0001c0005t0002g0007	6	336	0.0179	30	c.145 others(49): Show c.14570-187_14570-158dupATACATATGTGTCCATGTATATGTAT ATAT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	84/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP3A_chr6_34787083_34882514	34792126	T T	TGGCGGCG others(23): Show TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0028 a0004c0004t0028	a0004c0004t0028g0023 a0004c0004t0028g0023	1	312	0.0032	30	c.-11 others(39): Show c.-110_-109insGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	BLTP3A	ENSG00000065060.18	transcript	ENST00000192788.6	protein_coding	1/21	109	INFO_REALIGN_3_PRIME	chr6	TogoVar
BLTP3B_chr12_100032072_100147874	100140729	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03516.hp2 HG02572.hp2 HG03516.hp2	a0003 a0007 a0003 a0007	a0003c0002 a0007c0008 a0003c0002 a0007c0008	a0003c0002t0001 a0007c0008t0001 a0003c0002t0001 a0007c0008t0001	a0003c0002t0001g0039 a0007c0008t0001g0185 a0003c0002t0001g0039 a0007c0008t0001g0185	2	188	0.0106	30	c.44+ others(45): Show c.44+1862_44+1863insATATATATATATATATATATTTTTTTTTTT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100140729	A A	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	188	0.0053	30	c.44+ others(45): Show c.44+1862_44+1863insATATATATATATATATATATATATATATTT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLVRB_chr19_40442768_40470745	40460245	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG00738.hp1 HG00140.hp2 HG00735.hp2 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0167 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0167	3	362	0.0083	30	c.80- others(45): Show c.80-1701_80-1700insATATATATATATATATATATATATATATAT	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	1/4			chr19	TogoVar
BLVRB_chr19_40442768_40470745	40460247	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA20300.hp2 HG02300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0139 a0001c0001t0001g0073 a0001c0001t0001g0139	2	362	0.0055	30	c.80- others(45): Show c.80-1703_80-1702insATATATATATATATATATATATATATATAT	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	1/4			chr19	TogoVar
BMERB1_chr16_15429588_15593259	15444123	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01978.hp1 HG01256.hp2 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0011 a0001c0001t0002 a0001c0002t0011	a0001c0001t0002g0063 a0001c0002t0011g0091 a0001c0001t0002g0063 a0001c0002t0011g0091	2	291	0.0069	30	c.106 others(47): Show c.106+9391_106+9392insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
BMF_chr15_40082890_40113879	40106517	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18946.hp2 NA18952.hp2 others(3): Show HG02135.hp2 NA18946.hp2 NA18952.hp2 NA18979.hp1 NA18982.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0073 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0073 a0001c0001t0003g0049 a0001c0001t0005g0025	6	414	0.0145	30	c.-5- others(43): Show c.-5-456_-5-427dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	BMF	ENSG00000104081.14	transcript	ENST00000354670.9	protein_coding	2/4			chr15	TogoVar
BMP2K_chr4_78771350_78921365	78829787	T T	TTTCTCTT others(23): Show TTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19070.hp1 NA19056.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0089 a0001c0001t0014g0090 a0001c0001t0014g0089 a0001c0001t0014g0090	2	204	0.0098	30	c.297 others(47): Show c.297+3667_297+3696dupCTTCTCTTCTCTTCTCTTCTCTTCTCTT CT	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP6_chr6_7721099_7886728	7813108	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0064 a0001c0002t0002g0064	1	308	0.0033	30	c.665 others(49): Show c.665-32031_665-32030insAAAAAAAAAAAAAAAATATATATATA TATA	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMPER_chr7_33900539_34161427	34119014	T T	TCTCACAC others(23): Show TCTCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0203 a0001c0002t0001g0203	1	232	0.0043	30	c.174 others(51): Show c.1746-24215_1746-24214insTCACACACACACACACACACACAC ACACAC	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34129594	G G	GAGAGAGA others(23): Show GAGAGAGAGAAAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18991.hp2 HG03225.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0010 a0001c0001t0001 a0001c0002t0010	a0001c0001t0001g0065 a0001c0002t0010g0028 a0001c0001t0001g0065 a0001c0002t0010g0028	2	232	0.0086	30	c.174 others(51): Show c.1746-13627_1746-13626insAAGAGAGAGAGAGAGAGAGAAAGA GAGAGA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34129594	G G	GAGAGAGA others(23): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0216 a0001c0003t0003g0216	1	232	0.0043	30	c.174 others(51): Show c.1746-13621_1746-13620insGAGAGAGAGAGAGAAAGAGAGAGA GAGAGA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34129630	G G	GAAAGAAA others(23): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	232	0.0043	30	c.174 others(51): Show c.1746-13599_1746-13598insAAGAAAGAAAGAAAGAAAGAAAGA AAGAAA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPR1A_chr10_86751619_86932969	86751708	C C	CGTGTGCG others(23): Show CGTGTGCGCACATACGCATATGCGCACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0012 a0002c0001t0012	a0002c0001t0012g0262 a0002c0001t0012g0262	1	278	0.0036	30	c.-54 others(41): Show c.-5479_-5478insGTGTGCGCACATACGCATATGCGCACATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		4910		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86751715	G G	GCACATAC others(23): Show GCACATACGCATATGCGCACATATGTGTGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02622.hp2 HG03225.hp1 others(2): Show HG02257.hp1 HG02622.hp2 HG03225.hp1 NA18969.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0007 a0001c0002t0025 a0001c0002t0033 others(1): Show a0001c0002t0007 a0001c0002t0025 a0001c0002t0033 a0002c0001t0002	a0001c0002t0007g0036 a0001c0002t0025g0035 a0001c0002t0033g0270 others(2): Show a0001c0002t0007g0036 a0001c0002t0025g0035 a0001c0002t0033g0270 a0002c0001t0002g0246 a0002c0001t0002g0247	5	278	0.0180	30	c.-54 others(41): Show c.-5472_-5471insCACATACGCATATGCGCACATATGTGTGCA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		4903		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86824105	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTTTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02922.hp1 NA21309.hp2 HG02258.hp1 HG02922.hp1 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0156 a0001c0003t0020g0157 a0001c0003t0020g0158 a0001c0003t0020g0156 a0001c0003t0020g0157 a0001c0003t0020g0158	3	278	0.0108	30	c.-26 others(51): Show c.-267-14753_-267-14752insGTGTGTTTGTGTGTGTGTGTGTTT GTGTGT	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(23): Show CACACACACACACACACATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02895.hp1 HG02897.hp2 others(2): Show HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03209.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0032 a0001c0003t0055 a0001c0003t0014 a0001c0003t0032 a0001c0003t0055	a0001c0003t0014g0008 a0001c0003t0014g0010 a0001c0003t0032g0004 others(2): Show a0001c0003t0014g0008 a0001c0003t0014g0010 a0001c0003t0032g0004 a0001c0003t0032g0009 a0001c0003t0055g0006	5	278	0.0180	30	c.75 others(41): Show c.7579_*7580insACACACACACACACACATATATATATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(23): Show CACACACACACATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0271 a0001c0002t0007g0271	1	278	0.0036	30	c.75 others(41): Show c.7579_*7580insACACACACACATATATATATATATATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(23): Show CACACACATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0143 a0001c0002t0003g0143	1	278	0.0036	30	c.75 others(41): Show c.7579_*7580insACACACATATATATATATATATATATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1B_chr4_94752955_95163448	94937707	A A	AACACACA others(23): Show AACACACACACACACACACAGACACACACAC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03688.hp2 HG03491.hp2 HG03492.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0006 a0001c0001t0009	a0001c0001t0006g0115 a0001c0001t0009g0070 a0001c0001t0009g0071 a0001c0001t0006g0115 a0001c0001t0009g0070 a0001c0001t0009g0071	3	226	0.0133	30	c.-11 others(51): Show c.-112-58322_-112-58321insCACACACAGACACACACACACACA CACACA	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95116421	G G	GCGCGCAC others(23): Show GCGCGCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0024 a0001c0001t0011g0024	1	226	0.0044	30	c.349 others(45): Show c.349+635_349+636insGCGCACACACACACACACACACACACACAC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR2_chr2_202371327_202572749	202435376	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0037 a0005c0004t0037	a0005c0004t0037g0135 a0005c0004t0037g0135	1	224	0.0045	30	c.77- others(47): Show c.77-29430_77-29401dupATATATATATATATATATATATATATAT AT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMT2_chr7_112814147_112944875	112865667	C C	CATACATA others(23): Show CATACATATATTCATATATATTTTTTCATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00639.hp1 others(83): Show HG00099.hp2 HG00438.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01943.hp2 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02647.hp1 HG02723.hp1 HG02735.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG03041.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03579.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18947.hp1 NA18950.hp2 NA18951.hp2 NA18970.hp1 NA19009.hp1 NA19056.hp1 NA19060.hp2 NA19076.hp1 NA19076.hp2 NA19082.hp2 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0055 others(80): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0002g0116 a0001c0001t0004g0040 a0001c0001t0007g0007 a0001c0001t0007g0008 a0001c0001t0007g0009 a0001c0001t0007g0010 a0001c0001t0007g0011 a0001c0001t0007g0012 a0001c0001t0009g0070 a0001c0001t0009g0088 a0001c0001t0009g0089 a0001c0001t0009g0090 a0001c0001t0009g0091	86	206	0.4175	30	c.473 others(49): Show c.473+29901_473+29902insATATGAAAAAATATATATGAATATAT GTAT	BMT2	ENSG00000164603.12	transcript	ENST00000297145.9	protein_coding	3/4			chr7	TogoVar
BNC2_chr9_16404503_16875670	16861181	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0174 a0001c0001t0008g0174	1	176	0.0057	30	c.3+9 others(43): Show c.3+9464_3+9465insATATATATATATATATATATATATATATAT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	1/6			chr9	TogoVar
BNIP5_chr6_36310761_36341888	36324231	A A	AAATCTCT others(23): Show AAATCTCTTCTGCGGTCAGTCTTCATTTCCT	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0051 a0002c0002t0002g0051	1	424	0.0024	30	c.116 others(45): Show c.1169-71_1169-42dupAGGAAATGAAGACTGACCGCAGAAGAGATT	BNIP5	ENSG00000189325.7	transcript	ENST00000437635.3	protein_coding	6/11			chr6	TogoVar
BOC_chr3_113206557_113292459	113236284	A A	ATATATAT others(23): Show ATATATATATATATATATATATACCCATGGG	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18942.hp2 NA18941.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0030 a0001c0001t0001 a0001c0001t0030	a0001c0001t0001g0059 a0001c0001t0030g0046 a0001c0001t0001g0059 a0001c0001t0030g0046	2	386	0.0052	30	c.-81 others(49): Show c.-81-13416_-81-13415insCCCATGGGTATATATATATATATATA TATA	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(23): Show AAGAACAGAACAGAACAGAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01928.hp1 HG02083.hp1 others(10): Show HG00140.hp1 HG01928.hp1 HG02083.hp1 HG02523.hp1 HG03139.hp2 HG04115.hp1 HG04204.hp1 NA18939.hp1 NA18983.hp2 NA18988.hp2 NA19054.hp2 NA19080.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0001c0021	a0001c0001t0001 a0001c0002t0002 a0001c0002t0017 others(5): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0017 a0001c0002t0022 a0001c0002t0034 a0001c0008t0004 a0001c0008t0028 a0001c0021t0001	a0001c0001t0001g0313 a0001c0002t0002g0032 a0001c0002t0002g0316 others(10): Show a0001c0001t0001g0313 a0001c0002t0002g0032 a0001c0002t0002g0316 a0001c0002t0002g0320 a0001c0002t0002g0333 a0001c0002t0017g0243 a0001c0002t0022g0261 a0001c0002t0034g0288 a0001c0008t0004g0039 a0001c0008t0004g0090 a0001c0008t0028g0225 a0001c0008t0028g0226 a0001c0021t0001g0071	13	386	0.0337	30	c.377 others(47): Show c.377-7575_377-7546dupAACAGAACAGAACAGAACAGAACAGAAC AG	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(23): Show ACAGAAAGAACAGAACAGAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0011 a0001c0018t0011	a0001c0018t0011g0149 a0001c0018t0011g0149	1	386	0.0026	30	c.377 others(47): Show c.377-7578_377-7577insCAGAAAGAACAGAACAGAACAGAACAGA AC	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	4/19			chr3	TogoVar
BOC_chr3_113206557_113292459	113260721	A A	ACAGAACA others(23): Show ACAGAACAGAAAGAACAGAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0042 a0001c0008t0004g0042	1	386	0.0026	30	c.377 others(47): Show c.377-7578_377-7577insCAGAACAGAAAGAACAGAACAGAACAGA AC	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	4/19			chr3	TogoVar
BOC_chr3_113206557_113292459	113281964	G G	GATCCTGG others(23): Show GATCCTGGATCACCTGGATCACCTGGATCAC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0160 a0001c0001t0018g0160	1	386	0.0026	30	c.243 others(47): Show c.2434+811_2434+812insATCCTGGATCACCTGGATCACCTGGATC AC	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	15/19			chr3	TogoVar
BOK_chr2_241553745_241579131	241558052	G G	GAAACAGA others(23): Show GAAACAGACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01258.hp1 HG01261.hp2 others(23): Show HG01255.hp1 HG01258.hp1 HG01261.hp2 HG02071.hp2 HG02074.hp1 HG02615.hp2 HG02717.hp2 HG02970.hp2 HG03130.hp1 HG03669.hp1 NA18942.hp2 NA18950.hp2 NA18954.hp1 NA18957.hp2 NA18963.hp2 NA18993.hp1 NA19000.hp1 NA19007.hp1 NA19011.hp1 NA19043.hp2 NA19066.hp2 NA19068.hp2 NA19085.hp1 NA19087.hp1 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0020 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0049 a0001c0002t0001 a0001c0002t0009 a0002c0003t0003 a0003c0004t0005	a0001c0001t0001g0031 a0001c0001t0001g0116 a0001c0001t0001g0168 others(22): Show a0001c0001t0001g0031 a0001c0001t0001g0116 a0001c0001t0001g0168 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0003g0079 a0001c0001t0004g0025 a0001c0001t0005g0103 a0001c0001t0005g0106 a0001c0001t0005g0269 a0001c0001t0005g0276 a0001c0001t0005g0279 a0001c0001t0007g0054 a0001c0001t0007g0268 a0001c0001t0009g0055 a0001c0001t0013g0090 a0001c0001t0020g0035 a0001c0001t0035g0110 a0001c0001t0036g0080 a0001c0001t0037g0003 a0001c0001t0049g0077 a0001c0002t0001g0013 a0001c0002t0009g0060 a0002c0003t0003g0032 a0003c0004t0005g0052	26	434	0.0599	30	c.-97 others(39): Show c.-971_-970insAAACAGACACACACACACACACACACACAC	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding		692		chr2	TogoVar
BOP1_chr8_144257045_144296438	144277790	G G	GGGCAGGG others(23): Show GGGCAGGGGCGGTGCGGGCAGGGGCGGTGCA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03195.hp2 HG02257.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0037 a0001c0002t0001g0029 a0001c0002t0001g0037	2	398	0.0050	30	c.310 others(47): Show c.310-1487_310-1486insTGCACCGCCCCTGCCCGCACCGCCCCTG CC	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144277805	G G	GGGCAGGG others(23): Show GGGCAGGGGCGGTGCAGGCAGGGGCGGTGCA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01433.hp2 HG01978.hp1 others(6): Show HG01099.hp2 HG01433.hp2 HG01978.hp1 HG02015.hp2 HG02155.hp1 HG03704.hp1 NA19057.hp2 NA19088.hp2 NA19090.hp2	a0001 a0005 a0013 a0001 a0005 a0013	a0001c0001 a0005c0009 a0013c0026 a0001c0001 a0005c0009 a0013c0026	a0001c0001t0001 a0005c0009t0001 a0013c0026t0001 a0001c0001t0001 a0005c0009t0001 a0013c0026t0001	a0001c0001t0001g0058 a0001c0001t0001g0110 a0001c0001t0001g0141 others(6): Show a0001c0001t0001g0058 a0001c0001t0001g0110 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0285 a0005c0009t0001g0298 a0013c0026t0001g0111	9	398	0.0226	30	c.310 others(47): Show c.310-1502_310-1501insTGCACCGCCCCTGCCTGCACCGCCCCTG CC	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144280973	A A	AATACCAG others(23): Show AATACCAGGTCTTCGGCCTTCTCTCACTTTC	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	398	0.0025	30	c.310 others(47): Show c.310-4699_310-4670dupGAAAGTGAGAGAAGGCCGAAGACCTGGT AT	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281033	A A	AATACCAG others(23): Show AATACCAGGTCTTCGGCCTTCTCTCACTTTC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp2 HG02572.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0169 a0001c0003t0001g0170 a0001c0001t0001g0169 a0001c0003t0001g0170	2	398	0.0050	30	c.310 others(47): Show c.310-4730_310-4729insGAAAGTGAGAGAAGGCCGAAGACCTGGT AT	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281076	C C	CGGCCTTC others(23): Show CGGCCTTCTCTCACTTTCATACCAGGTCTTA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA19000.hp1 NA18940.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0291 a0001c0012t0001g0151 a0001c0001t0001g0291 a0001c0012t0001g0151	2	398	0.0050	30	c.310 others(47): Show c.310-4773_310-4772insTAAGACCTGGTATGAAAGTGAGAGAAGG CC	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281243	A A	AATACCAG others(23): Show AATACCAGGTCTTTGGCCTTCTCTCACTTTC	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	398	0.0025	30	c.310 others(47): Show c.310-4940_310-4939insGAAAGTGAGAGAAGGCCAAAGACCTGGT AT	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281273	A A	AATACCAG others(23): Show AATACCAGGTCTTCGGCCTTCTCTCACTTTC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0352 a0001c0001t0001g0352	1	398	0.0025	30	c.310 others(47): Show c.310-4970_310-4969insGAAAGTGAGAGAAGGCCGAAGACCTGGT AT	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281278	C C	CAGGTCTT others(23): Show CAGGTCTTAGGCCTTCTCTTACTTTAATACT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0151 a0001c0012t0001g0151	1	398	0.0025	30	c.310 others(47): Show c.310-4975_310-4974insAGTATTAAAGTAAGAGAAGGCCTAAGAC CT	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281324	T T	TCTCAGTT others(23): Show TCTCAGTTTAATACCAGGTCTTCGGCCTTCC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0039 a0001c0010t0001g0039	1	398	0.0025	30	c.310 others(47): Show c.310-5050_310-5021dupGGAAGGCCGAAGACCTGGTATTAAACTG AG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281384	C C	CCTCACTT others(23): Show CCTCACTTTCATACCAGGTCTTTGGCCTTCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 NA20300.hp1 HG01069.hp1 HG01071.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0019 a0002c0004t0001g0318 a0001c0001t0001g0019 a0002c0004t0001g0318	3	398	0.0075	30	c.310 others(47): Show c.310-5081_310-5080insAGAAGGCCAAAGACCTGGTATGAAAGTG AG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281419	C C	CTTTAATA others(23): Show CTTTAATACCAGGTCTTCGGCCTTCCCTCAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp2 HG02572.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0169 a0001c0003t0001g0170 a0001c0001t0001g0169 a0001c0003t0001g0170	2	398	0.0050	30	c.310 others(47): Show c.310-5116_310-5115insCTGAGGGAAGGCCGAAGACCTGGTATTA AA	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281444	T T	TCTCAGTT others(23): Show TCTCAGTTTAATACCAGGTCTTAGGCCTTCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02970.hp2 HG02145.hp1 HG02970.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0025 a0003c0005t0001g0026 a0003c0005t0001g0025 a0003c0005t0001g0026	2	398	0.0050	30	c.310 others(47): Show c.310-5141_310-5140insGGAAGGCCTAAGACCTGGTATTAAACTG AG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281444	T T	TCTCAGTT others(23): Show TCTCAGTTTAATACCAGGTCTTCGGCCTTCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	398	0.0025	30	c.310 others(47): Show c.310-5141_310-5140insGGAAGGCCGAAGACCTGGTATTAAACTG AG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar

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Search Results (Total: 10000 hits)