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
BICRA_chr19_47604134_47708277	47685786	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0020 a0001c0003t0003g0020	1	312	0.0032	24	c.228 others(43): Show c.2283+3635_2283+3636insTGTGTGTGTGTGTGTGCGCGCGCG	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
BIN1_chr2_127043032_127112154	127105467	C C	CCCTCCTC others(17): Show CCCTCCTCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02723.hp1 HG03139.hp1 others(1): Show HG01993.hp1 HG02723.hp1 HG03139.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0001t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0003t0001g0067 others(1): Show a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0003t0001g0067 a0001c0004t0001g0068	4	344	0.0116	24	c.84+ others(39): Show c.84+1369_84+1392dupAGGAGGAGGAGGAGGAGGAGGAGG	BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	1/18			chr2	TogoVar
BIN2_chr12_51276038_51329174	51313220	A A	AAGGAAGG others(17): Show AAGGAAGGAAGGAAGGAAGGAAGGC	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18995.hp1 HG02523.hp1 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0021 a0002c0002t0002g0076 a0002c0002t0001g0021 a0002c0002t0002g0076	2	400	0.0050	24	c.162 others(39): Show c.162+602_162+603insGCCTTCCTTCCTTCCTTCCTTCCT	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	2/12			chr12	TogoVar
BIN2_chr12_51276038_51329174	51320934	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01891.hp2 HG02040.hp2 others(10): Show HG00609.hp2 HG01891.hp2 HG02040.hp2 HG02071.hp2 HG02109.hp2 HG02809.hp1 HG03209.hp1 HG03225.hp1 HG04115.hp1 NA18906.hp2 NA18979.hp2 NA19063.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003 a0004c0005	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0003c0003t0001 a0004c0005t0001 a0004c0005t0005	a0001c0001t0001g0237 a0001c0001t0001g0304 a0001c0004t0001g0305 others(10): Show a0001c0001t0001g0237 a0001c0001t0001g0304 a0001c0004t0001g0305 a0001c0004t0001g0306 a0001c0004t0001g0307 a0002c0002t0001g0034 a0003c0003t0001g0308 a0003c0003t0001g0309 a0003c0003t0001g0368 a0004c0005t0001g0032 a0004c0005t0001g0033 a0004c0005t0001g0078 a0004c0005t0005g0035	13	400	0.0325	24	c.81+ others(39): Show c.81+3087_81+3088insGTGTGTGTGTGTGTGTGTGTGTGT	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	1/12			chr12	TogoVar
BIN3_chr8_22615418_22674121	22648894	C C	CGTATGTA others(17): Show CGTATGTATGTATGTATGTATGTAT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	386	0.0026	24	c.9-4 others(37): Show c.9-4115_9-4092dupATACATACATACATACATACATAC	BIN3	ENSG00000147439.14	transcript	ENST00000276416.11	protein_coding	1/8			chr8	TogoVar
BIRC2_chr11_102342214_102383670	102364139	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	344	0.0029	24	c.112 others(41): Show c.1123+436_1123+459dupTATATATATATATATATATATATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC2_chr11_102342214_102383670	102364172	T T	TATATATA others(17): Show TATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18960.hp1 HG02027.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0087 a0001c0001t0001g0054 a0001c0001t0001g0087	2	344	0.0058	24	c.112 others(41): Show c.1123+459_1123+460insTATATATATATATATATACACATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC2_chr11_102342214_102383670	102364172	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18965.hp1 NA18979.hp1 others(1): Show HG02523.hp2 NA18965.hp1 NA18979.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0066 a0001c0001t0001g0089 others(1): Show a0001c0001t0001g0042 a0001c0001t0001g0066 a0001c0001t0001g0089 a0001c0001t0001g0215	4	344	0.0116	24	c.112 others(41): Show c.1123+459_1123+460insTATATATATATATATATATACATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC2_chr11_102342214_102383670	102364174	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA19065.hp1 HG00639.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0211 a0001c0001t0001g0090 a0001c0001t0001g0211	2	344	0.0058	24	c.112 others(41): Show c.1123+459_1123+460insTATATATATATATATATATATACA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC6_chr2_32352023_32623878	32431181	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0158 a0001c0014t0001g0158	1	274	0.0037	24	c.324 others(41): Show c.3248+100_3248+123dupTTTTTTTTTTTTTTTTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	12/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32440751	T T	TTTATTAT others(17): Show TTTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0059 a0001c0008t0003g0059	1	274	0.0037	24	c.381 others(41): Show c.3811-572_3811-549dupATTATTATTATTATTATTATTATT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	16/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32440751	T T	TTTTTTAT others(17): Show TTTTTTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02055.hp1 HG03239.hp1 others(2): Show HG00280.hp1 HG02055.hp1 HG03239.hp1 HG03471.hp2 NA19030.hp1	a0001 a0001	a0001c0006 a0001c0008 a0001c0006 a0001c0008	a0001c0006t0003 a0001c0008t0003 a0001c0006t0003 a0001c0008t0003	a0001c0006t0003g0002 a0001c0006t0003g0009 a0001c0008t0003g0108 others(2): Show a0001c0006t0003g0002 a0001c0006t0003g0009 a0001c0008t0003g0108 a0001c0008t0003g0109 a0001c0008t0003g0145	5	274	0.0183	24	c.381 others(41): Show c.3811-576_3811-575insTTTATTATTATTATTATTATTATT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	16/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32578979	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG02615.hp1 others(7): Show HG01884.hp2 HG02257.hp2 HG02615.hp1 HG02809.hp1 HG02818.hp1 HG03017.hp1 HG03130.hp2 HG03453.hp2 HG03471.hp1 HG03579.hp1	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0001 a0001c0010 a0001c0011 others(5): Show a0001c0001 a0001c0010 a0001c0011 a0001c0012 a0001c0025 a0004c0019 a0004c0047 a0010c0036	a0001c0001t0001 a0001c0001t0002 a0001c0010t0002 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0010t0002 a0001c0011t0001 a0001c0012t0003 a0001c0025t0002 a0004c0019t0003 a0004c0047t0003 a0010c0036t0003	a0001c0001t0001g0198 a0001c0001t0002g0240 a0001c0010t0002g0051 others(7): Show a0001c0001t0001g0198 a0001c0001t0002g0240 a0001c0010t0002g0051 a0001c0010t0002g0052 a0001c0011t0001g0209 a0001c0012t0003g0273 a0001c0025t0002g0175 a0004c0019t0003g0142 a0004c0047t0003g0143 a0010c0036t0003g0138	10	274	0.0365	24	c.133 others(45): Show c.13355+3624_13355+3625insTATATATATATATATATATATATA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	66/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32609285	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0011 a0011	a0011c0028 a0011c0028	a0011c0028t0002 a0011c0028t0002	a0011c0028t0002g0179 a0011c0028t0002g0179	1	274	0.0037	24	c.142 others(45): Show c.14259+1646_14259+1669dupGTGTGTGTGTGTGTGTGTGTGTGT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	72/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIVM_chr13_102794119_102846533	102833327	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG03831.hp2 HG01069.hp2 HG01071.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0256 a0001c0001t0003g0044 a0001c0001t0003g0256	3	404	0.0074	24	c.103 others(43): Show c.1035-1121_1035-1120insTTTTTTTTTTTTTTTTTTTTTTTT	BIVM	ENSG00000134897.14	transcript	ENST00000257336.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
BLK_chr8_11489387_11569599	11504412	A A	AAAAGAAA others(17): Show AAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp1 HG02723.hp1 others(3): Show HG02615.hp1 HG02647.hp1 HG02723.hp1 HG02965.hp2 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0011 a0001c0002 a0001c0003 a0001c0011	a0001c0002t0004 a0001c0002t0007 a0001c0002t0011 others(2): Show a0001c0002t0004 a0001c0002t0007 a0001c0002t0011 a0001c0003t0004 a0001c0011t0004	a0001c0002t0004g0102 a0001c0002t0004g0104 a0001c0002t0007g0027 others(3): Show a0001c0002t0004g0102 a0001c0002t0004g0104 a0001c0002t0007g0027 a0001c0002t0011g0026 a0001c0003t0004g0088 a0001c0011t0004g0089	6	308	0.0195	24	c.-2+ others(39): Show c.-2+9824_-2+9825insGAAAAGAAAAGAAAAGAAAAGAAA	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLOC1S3_chr19_45173784_45186800	45180235	A A	AATTTTTT others(17): Show AATTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0001 a0001c0001t0035g0001	1	426	0.0024	24	c.33 others(33): Show c.330_*331insATTTTTTTTTTTTTTTTTTTTTTT	BLOC1S3	ENSG00000189114.8	transcript	ENST00000433642.3	protein_coding	2/2	331		chr19	TogoVar
BLTP1_chr4_122147331_122367752	122321979	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18984.hp2 HG02074.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0184 a0001c0003t0001g0228 a0001c0001t0001g0184 a0001c0003t0001g0228	2	336	0.0060	24	c.109 others(45): Show c.10996-2435_10996-2412dupTTTTTTTTTTTTTTTTTTTTTTTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	64/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP3A_chr6_34787083_34882514	34792126	T T	TGGCGGCG others(17): Show TGGCGGCGGCGGCGGCGGCGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01109.hp2 HG01123.hp1 HG01884.hp1 others(4): Show HG01109.hp2 HG01123.hp1 HG01884.hp1 HG02818.hp2 HG03927.hp2 NA19240.hp1 homoSapiens_chm13v2.hp1	a0003 a0004 a0010 a0003 a0004 a0010	a0003c0003 a0004c0004 a0004c0024 others(1): Show a0003c0003 a0004c0004 a0004c0024 a0010c0010	a0003c0003t0030 a0004c0004t0031 a0004c0004t0032 others(3): Show a0003c0003t0030 a0004c0004t0031 a0004c0004t0032 a0004c0004t0033 a0004c0024t0017 a0010c0010t0017	a0003c0003t0030g0125 a0004c0004t0031g0163 a0004c0004t0032g0161 others(4): Show a0003c0003t0030g0125 a0004c0004t0031g0163 a0004c0004t0032g0161 a0004c0004t0033g0030 a0004c0024t0017g0005 a0010c0010t0017g0039 a0010c0010t0017g0040	7	312	0.0224	24	c.-11 others(33): Show c.-110_-109insGGCGGCGGCGGCGGCGGCGGCGGC	BLTP3A	ENSG00000065060.18	transcript	ENST00000192788.6	protein_coding	1/21	109	INFO_REALIGN_3_PRIME	chr6	TogoVar
BLTP3B_chr12_100032072_100147874	100098919	C C	CAGATAGA others(17): Show CAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0042 a0001c0004t0001g0042	1	188	0.0053	24	c.339 others(39): Show c.339-379_339-378insATCTATCTATCTATCTATCTATCT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	4/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100098931	T T	TAGATAGA others(17): Show TAGATAGATAGATAGATAGATAGAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0093 a0003c0002t0001g0093	1	188	0.0053	24	c.339 others(39): Show c.339-391_339-390insGTCTATCTATCTATCTATCTATCT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	4/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100130949	C C	CATACATA others(17): Show CATACATACATACATACATACATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0013 a0013	a0013c0030 a0013c0030	a0013c0030t0001 a0013c0030t0001	a0013c0030t0001g0002 a0013c0030t0001g0002	1	188	0.0053	24	c.44+ others(41): Show c.44+11642_44+11643insATATGTATGTATGTATGTATGTAT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100140725	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0032 a0002c0003t0001g0032	1	188	0.0053	24	c.44+ others(39): Show c.44+1866_44+1867insATATATATATATATATATATATAT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLVRB_chr19_40442768_40470745	40460245	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02723.hp2 NA19009.hp2 others(1): Show HG01891.hp1 HG02723.hp2 NA19009.hp2 NA19067.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0146 a0001c0002t0001g0164 a0001c0002t0001g0165 others(1): Show a0001c0002t0001g0146 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0182	4	362	0.0111	24	c.80- others(39): Show c.80-1701_80-1700insATATATATATATATATATATATAT	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	1/4			chr19	TogoVar
BLVRB_chr19_40442768_40470745	40460247	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02559.hp2 HG01934.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0085 a0001c0003t0001g0126 a0001c0001t0001g0085 a0001c0003t0001g0126	2	362	0.0055	24	c.80- others(39): Show c.80-1726_80-1703dupATATATATATATATATATATATAT	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	1/4			chr19	TogoVar
BLVRB_chr19_40442768_40470745	40460269	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02895.hp2 HG03471.hp2 HG02109.hp1 HG02895.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0130 a0001c0001t0001g0137 a0001c0001t0001g0140	3	362	0.0083	24	c.80- others(39): Show c.80-1725_80-1724insGTATATATATATATATATATATAT	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	1/4			chr19	TogoVar
BMAL1_chr11_13272790_13392266	13288394	T T	TCTTTTTT others(17): Show TCTTTTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	314	0.0032	24	c.-26 others(45): Show c.-263+10471_-263+10472insCTTTTTTCTTTCTTTCTTTCTTTC	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19			chr11	TogoVar
BMAL1_chr11_13272790_13392266	13339430	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	314	0.0032	24	c.-13 others(45): Show c.-134-10511_-134-10488dupCACACACACACACACACACACACA	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL2_chr12_27327836_27430286	27360803	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01496.hp1 HG00639.hp2 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0185 a0001c0001t0001g0107 a0001c0001t0001g0185	2	310	0.0065	24	c.32- others(39): Show c.32-7437_32-7436insAAAAAAAAAAAAAAAAAAAAAAAA	BMAL2	ENSG00000029153.15	transcript	ENST00000266503.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
BMERB1_chr16_15429588_15593259	15444123	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02602.hp1 NA18946.hp1 others(2): Show HG02004.hp2 HG02602.hp1 NA18946.hp1 NA18965.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011	a0001c0001t0004g0205 a0001c0001t0004g0214 a0001c0001t0004g0222 others(2): Show a0001c0001t0004g0205 a0001c0001t0004g0214 a0001c0001t0004g0222 a0001c0001t0007g0084 a0001c0001t0011g0062	5	291	0.0172	24	c.106 others(41): Show c.106+9368_106+9391dupTTTTTTTTTTTTTTTTTTTTTTTT	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
BMERB1_chr16_15429588_15593259	15498641	G G	GAAGGAAG others(17): Show GAAGGAAGGAAGGGAAGATGGAACT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03927.hp2 HG02602.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0006 a0001c0001t0011g0062 a0001c0001t0011g0006 a0001c0001t0011g0062	2	291	0.0069	24	c.107 others(43): Show c.107-16652_107-16629dupGGAAGATGGAACTAAGGAAGGAAG	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(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG02080.hp1 others(9): Show HG00423.hp2 HG00597.hp1 HG02080.hp1 HG02132.hp2 HG02523.hp1 NA18943.hp1 NA18953.hp1 NA18965.hp1 NA18984.hp2 NA19011.hp2 NA19054.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0022 a0001c0001t0034	a0001c0001t0001g0187 a0001c0001t0001g0304 a0001c0001t0001g0305 others(9): Show a0001c0001t0001g0187 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0004g0267 a0001c0001t0011g0026 a0001c0001t0011g0029 a0001c0001t0022g0306 a0001c0001t0034g0303	12	414	0.0290	24	c.-5- others(37): Show c.-5-450_-5-427dupGTGTGTGTGTGTGTGTGTGTGTGT	BMF	ENSG00000104081.14	transcript	ENST00000354670.9	protein_coding	2/4			chr15	TogoVar
BMP1_chr8_22160372_22206482	22165882	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18612.hp1 NA19081.hp2 HG03017.hp2 NA18612.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029	3	418	0.0072	24	c.148 others(39): Show c.148+350_148+373dupGTGTGTGTGTGTGTGTGTGTGTGT	BMP1	ENSG00000168487.20	transcript	ENST00000306349.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP1_chr8_22160372_22217326	22165882	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18612.hp1 NA19081.hp2 HG03017.hp2 NA18612.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020	3	408	0.0074	24	c.148 others(39): Show c.148+350_148+373dupGTGTGTGTGTGTGTGTGTGTGTGT	BMP1	ENSG00000168487.20	transcript	ENST00000306385.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP2K_chr4_78771350_78921365	78772054	G G	GACACACA others(17): Show GACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01891.hp1 HG02559.hp2 others(1): Show HG00735.hp1 HG01891.hp1 HG02559.hp2 HG02622.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0008 a0003c0005t0009 a0003c0005t0008 a0003c0005t0009	a0003c0005t0008g0021 a0003c0005t0009g0001 a0003c0005t0009g0020 a0003c0005t0008g0021 a0003c0005t0009g0001 a0003c0005t0009g0020	4	204	0.0196	24	c.-44 others(35): Show c.-4490_-4489insACACACACACACACACACACACAC	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding		4295		chr4	TogoVar
BMP3_chr4_81025708_81062627	81032194	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0063 a0001c0001t0019g0063	1	382	0.0026	24	c.316 others(39): Show c.316+597_316+620dupAAAAAAAAAAAAAAAAAAAAAAAA	BMP3	ENSG00000152785.8	transcript	ENST00000282701.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP5_chr6_55748653_55880590	55759144	C C	CACACACA others(17): Show CACACACAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	320	0.0031	24	c.110 others(39): Show c.1105-30_1105-29insTTTTTTTTTTTTTTTTTTGTGTGT	BMP5	ENSG00000112175.8	transcript	ENST00000370830.4	protein_coding	5/6			chr6	TogoVar
BMP5_chr6_55748653_55880590	55837369	A A	AGATAGAT others(17): Show AGATAGATAGATAGATAGATAGATG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0027 a0001c0002t0008g0027	1	320	0.0031	24	c.491 others(43): Show c.491-17523_491-17522insCATCTATCTATCTATCTATCTATC	BMP5	ENSG00000112175.8	transcript	ENST00000370830.4	protein_coding	1/6			chr6	TogoVar
BMP6_chr6_7721099_7886728	7813108	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02293.hp2 HG01934.hp1 HG02293.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0001 a0001c0002t0002 a0002c0003t0001	a0001c0002t0002g0166 a0002c0003t0001g0265 a0001c0002t0002g0166 a0002c0003t0001g0265	2	308	0.0065	24	c.665 others(43): Show c.665-32031_665-32030insAAAAAAAAAAAATATATATATATA	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMP6_chr6_7721099_7886728	7813108	A A	AAAAAAAA others(17): Show AAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0108 a0001c0002t0002g0108	1	308	0.0033	24	c.665 others(43): Show c.665-32031_665-32030insAAAAAAAATATATATATATATATA	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMP6_chr6_7721099_7886728	7813108	A A	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0035 a0001c0002t0002g0035	1	308	0.0033	24	c.665 others(43): Show c.665-32031_665-32030insAAAAAATATATATATATATATATA	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMP6_chr6_7721099_7886728	7856595	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0037 a0001c0019t0037	a0001c0019t0037g0073 a0001c0019t0037g0073	1	308	0.0033	24	c.858 others(41): Show c.858-4837_858-4836insTTTTTTTTTTTTTTTTTTTTTTTT	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMPER_chr7_33900539_34161427	33919923	A A	ATATCTAT others(17): Show ATATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	232	0.0043	24	c.219 others(43): Show c.219+13028_219+13051dupCTATCTATCTATCTATCTATCTAT	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34024357	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01081.hp1 HG00642.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0158 a0001c0002t0001g0159	2	232	0.0086	24	c.577 others(43): Show c.577-21947_577-21924dupAAAAAAAAAAAAAAAAAAAAAAAA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34024384	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0163 a0001c0002t0001g0163	1	232	0.0043	24	c.577 others(43): Show c.577-21895_577-21872dupATATATATATATATATATATATAT	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34065235	T T	TCTCTCTC others(17): Show TCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0006 a0001c0004t0006g0006	1	232	0.0043	24	c.107 others(43): Show c.1078+3201_1078+3202insTCTCTCTCTCCCTCTCTCTCTCTC	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34119014	T T	TCTCACAC others(17): Show TCTCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01070.hp1 HG01517.hp2 others(1): Show HG00099.hp2 HG01070.hp1 HG01517.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0005 a0001c0001t0002 a0001c0002t0001 a0001c0002t0005	a0001c0001t0002g0073 a0001c0002t0001g0117 a0001c0002t0001g0151 others(1): Show a0001c0001t0002g0073 a0001c0002t0001g0117 a0001c0002t0001g0151 a0001c0002t0005g0118	4	232	0.0172	24	c.174 others(45): Show c.1746-24215_1746-24214insTCACACACACACACACACACACAC	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(17): Show GAGAGAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0009 a0001c0001t0006g0009	1	232	0.0043	24	c.174 others(45): Show c.1746-13621_1746-13620insGAGAGAGAAAGAGAGAGAGAGAGA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34129630	G G	GAGAAAGA others(17): Show GAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01496.hp2 HG01517.hp2 others(6): Show HG01069.hp2 HG01496.hp2 HG01517.hp2 HG01934.hp1 HG02451.hp1 HG02523.hp1 NA18964.hp2 NA19082.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 a0001c0002t0001 a0001c0003t0001	a0001c0001t0002g0155 a0001c0001t0002g0162 a0001c0001t0005g0187 others(6): Show a0001c0001t0002g0155 a0001c0001t0002g0162 a0001c0001t0005g0187 a0001c0001t0014g0076 a0001c0002t0001g0081 a0001c0002t0001g0151 a0001c0003t0001g0128 a0001c0003t0001g0189 a0001c0003t0001g0195	9	232	0.0388	24	c.174 others(45): Show c.1746-13570_1746-13547dupGAAAGAAAGAAAGAAAGAAAGAAA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPR1A_chr10_86751619_86932969	86790188	A A	AAAAAAAA others(17): Show AAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0215 a0002c0001t0001g0215	1	278	0.0036	24	c.-26 others(45): Show c.-268+33270_-268+33271insAAAAAAAATATATATATATATATA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar

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