JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BIRC6_chr2_32352023_32623878	32460272	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0029 a0001c0009t0001g0029	1	274	0.0037	21	c.475 others(40): Show c.4754-2921_4754-2920insATATATATATATATATATATT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIVM_chr13_102794119_102846533	102833327	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0281 a0001c0001t0002g0281	1	404	0.0025	21	c.103 others(40): Show c.1035-1121_1035-1120insTTTTTTTTTTTTTTTTTTTTT	BIVM	ENSG00000134897.14	transcript	ENST00000257336.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
BLOC1S3_chr19_45173784_45186800	45180235	A A	AATTTTTT others(14): Show AATTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp1 NA18906.hp2 HG02572.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0001 a0001c0001t0021g0001	2	426	0.0047	21	c.33 others(30): Show c.330_*331insATTTTTTTTTTTTTTTTTTTT	BLOC1S3	ENSG00000189114.8	transcript	ENST00000433642.3	protein_coding	2/2	331		chr19	TogoVar
BLTP1_chr4_122147331_122367752	122267051	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02145.hp2 HG03139.hp1 HG01099.hp2 HG02145.hp2 HG03139.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0006c0014 a0001c0001 a0001c0003 a0006c0014	a0001c0001t0001 a0001c0003t0001 a0006c0014t0001 a0001c0001t0001 a0001c0003t0001 a0006c0014t0001	a0001c0001t0001g0159 a0001c0003t0001g0203 a0006c0014t0001g0144 a0001c0001t0001g0159 a0001c0003t0001g0203 a0006c0014t0001g0144	3	336	0.0089	21	c.749 others(37): Show c.7493+98_7493+118dupTTTTTTTTTTTTTTTTTTTTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	46/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122321978	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	336	0.0030	21	c.109 others(42): Show c.10996-2449_10996-2448insTTTTTTTTTTTTTTTTTTTTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	64/87			chr4	TogoVar
BLTP1_chr4_122147331_122367752	122321979	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	336	0.0030	21	c.109 others(42): Show c.10996-2432_10996-2412dupTTTTTTTTTTTTTTTTTTTTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	64/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP2_chr17_28609446_28650158	28646185	G G	GACGGTTT others(14): Show GACGGTTTCAAAATAAGTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	310	0.0032	21	c.-11 others(32): Show c.-1130_-1129insTAATACTTATTTTGAAACCGT	BLTP2	ENSG00000007202.16	transcript	ENST00000528896.7	protein_coding		1028		chr17	TogoVar
BLTP3A_chr6_34787083_34882514	34792126	T T	TGGCGGCG others(14): Show TGGCGGCGGCGGCGGCGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00280.hp2 HG00735.hp2 HG00738.hp1 others(35): Show HG00280.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01261.hp2 HG01891.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02148.hp1 HG02559.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02738.hp2 HG02809.hp2 HG02895.hp1 HG03098.hp2 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03710.hp1 HG03834.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18942.hp2 NA20805.hp1	a0003 a0004 a0005 others(2): Show a0003 a0004 a0005 a0010 a0019	a0003c0003 a0004c0004 a0004c0015 others(3): Show a0003c0003 a0004c0004 a0004c0015 a0005c0005 a0010c0010 a0019c0025	a0003c0003t0021 a0004c0004t0005 a0004c0004t0010 others(6): Show a0003c0003t0021 a0004c0004t0005 a0004c0004t0010 a0004c0004t0018 a0004c0015t0005 a0005c0005t0007 a0005c0005t0021 a0010c0010t0005 a0019c0025t0005	a0003c0003t0021g0112 a0004c0004t0005g0006 a0004c0004t0005g0007 others(35): Show a0003c0003t0021g0112 a0004c0004t0005g0006 a0004c0004t0005g0007 a0004c0004t0005g0008 a0004c0004t0005g0011 a0004c0004t0005g0012 a0004c0004t0005g0013 a0004c0004t0005g0014 a0004c0004t0005g0015 a0004c0004t0005g0016 a0004c0004t0005g0017 a0004c0004t0005g0020 a0004c0004t0005g0021 a0004c0004t0005g0026 a0004c0004t0005g0027 a0004c0004t0005g0044 a0004c0004t0005g0045 a0004c0004t0005g0098 a0004c0004t0010g0029 a0004c0004t0010g0034 a0004c0004t0010g0035 a0004c0004t0010g0036 a0004c0004t0010g0037 a0004c0004t0018g0031 a0004c0004t0018g0032 a0004c0004t0018g0033 a0004c0015t0005g0024 a0005c0005t0007g0124 a0005c0005t0007g0130 a0005c0005t0007g0131 a0005c0005t0007g0134 a0005c0005t0007g0137 a0005c0005t0007g0141 a0005c0005t0007g0149 a0005c0005t0007g0150 a0005c0005t0021g0116 a0010c0010t0005g0041 a0019c0025t0005g0046	38	312	0.1218	21	c.-11 others(30): Show c.-110_-109insGGCGGCGGCGGCGGCGGCGGC	BLTP3A	ENSG00000065060.18	transcript	ENST00000192788.6	protein_coding	1/21	109	INFO_REALIGN_3_PRIME	chr6	TogoVar
BLTP3B_chr12_100032072_100147874	100140729	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0041 a0001c0004t0001g0041	1	188	0.0053	21	c.44+ others(36): Show c.44+1862_44+1863insATATATATATATATATATTTT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BMAL2_chr12_27327836_27430286	27360803	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01109.hp2 HG02071.hp2 others(4): Show HG00621.hp1 HG01109.hp2 HG02071.hp2 HG02300.hp2 NA18979.hp2 NA19062.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0001g0100 a0001c0001t0001g0109 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0100 a0001c0001t0001g0109 a0001c0001t0001g0122 a0001c0001t0001g0171 a0001c0001t0002g0123	7	310	0.0226	21	c.32- others(36): Show c.32-7457_32-7437dupAAAAAAAAAAAAAAAAAAAAA	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(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02165.hp1 HG02698.hp1 HG01891.hp2 HG02165.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0060 a0001c0001t0001g0232 a0001c0001t0013g0264 a0001c0001t0001g0060 a0001c0001t0001g0232 a0001c0001t0013g0264	3	291	0.0103	21	c.106 others(38): Show c.106+9371_106+9391dupTTTTTTTTTTTTTTTTTTTTT	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
BMERB1_chr16_15429588_15593259	15591942	C C	CATAATAG others(14): Show CATAATAGATATATATCTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00673.hp2 HG02040.hp1 others(8): Show HG00323.hp2 HG00673.hp2 HG02040.hp1 HG02071.hp1 HG03491.hp2 NA18747.hp2 NA18948.hp2 NA18964.hp2 NA19065.hp1 NA19084.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0137 a0001c0001t0001g0163 a0001c0001t0001g0172 others(8): Show a0001c0001t0001g0137 a0001c0001t0001g0163 a0001c0001t0001g0172 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0003g0173 a0001c0001t0008g0099 a0001c0001t0008g0192 a0001c0001t0008g0270 a0001c0001t0008g0272 a0001c0001t0008g0280	11	291	0.0378	21	c.51 others(32): Show c.5113_*5114insATAATAGATATATATCTATAT	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding		3684		chr16	TogoVar
BMERB1_chr16_15429588_15593259	15591942	C C	CATAATAT others(14): Show CATAATATATAGATATCTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0252 a0001c0002t0001g0252	1	291	0.0034	21	c.51 others(32): Show c.5113_*5114insATAATATATAGATATCTATAT	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding		3684		chr16	TogoVar
BMERB1_chr16_15429588_15593259	15591957	T T	TATATCTA others(14): Show TATATCTATATATAATATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0090 a0001c0002t0001g0090	1	291	0.0034	21	c.51 others(32): Show c.5128_*5129insATATCTATATATAATATATAG	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding		3699		chr16	TogoVar
BMP3_chr4_81025708_81062627	81035131	C C	CCTTTATG others(14): Show CCTTTATGAATTACACAATACT	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA18906.hp2 HG02970.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0180 a0001c0001t0006g0181 a0001c0001t0006g0180 a0001c0001t0006g0181	2	382	0.0052	21	c.316 others(38): Show c.316+3531_316+3532insCTTTATGAATTACACAATACT	BMP3	ENSG00000152785.8	transcript	ENST00000282701.4	protein_coding	1/2			chr4	TogoVar
BMP5_chr6_55748653_55880590	55773370	T T	TAGAACTT others(14): Show TAGAACTTCAATATCGAGTTAG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0004 a0005c0013t0004	a0005c0013t0004g0167 a0005c0013t0004g0167	1	320	0.0031	21	c.102 others(38): Show c.1027+678_1027+679insCTAACTCGATATTGAAGTTCT	BMP5	ENSG00000112175.8	transcript	ENST00000370830.4	protein_coding	4/6			chr6	TogoVar
BMP6_chr6_7721099_7886728	7739202	A A	AATTTAGA others(14): Show AATTTAGAAGATTTGATCTTCT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0272 a0002c0004t0002g0272	1	308	0.0033	21	c.664 others(40): Show c.664+11584_664+11585insTTTAGAAGATTTGATCTTCTA	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMP6_chr6_7721099_7886728	7813086	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA19088.hp1 HG02135.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0220 a0001c0001t0001g0141 a0001c0001t0001g0220	2	308	0.0065	21	c.665 others(40): Show c.665-32051_665-32031dupAAAAAAAAAAAAAAAAAAAAA	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(14): Show AAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19010.hp2 HG02258.hp2 NA19010.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0019 a0002c0003t0001 a0001c0002t0019 a0002c0003t0001	a0001c0002t0019g0068 a0002c0003t0001g0229 a0001c0002t0019g0068 a0002c0003t0001g0229	2	308	0.0065	21	c.665 others(40): Show c.665-32031_665-32030insAAAAAAAAAAAAATATATATA	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(14): Show AAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG03486.hp1 NA19066.hp1 others(1): Show HG01069.hp1 HG03486.hp1 NA19066.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0169 a0001c0001t0001g0205 a0001c0001t0003g0198 others(1): Show a0001c0001t0001g0169 a0001c0001t0001g0205 a0001c0001t0003g0198 a0001c0002t0002g0084	4	308	0.0130	21	c.665 others(40): Show c.665-32031_665-32030insAAAAAAAAAAATATATATATA	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(14): Show AAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0213 a0001c0002t0002g0213	1	308	0.0033	21	c.665 others(40): Show c.665-32031_665-32030insAAAAAAATATATATATATATA	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(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02109.hp2 HG02922.hp2 others(3): Show HG01346.hp2 HG02109.hp2 HG02922.hp2 NA18522.hp1 NA19076.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0015 a0001c0001t0026 others(2): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0026 a0001c0002t0002 a0002c0003t0001	a0001c0001t0001g0043 a0001c0001t0015g0131 a0001c0001t0026g0298 others(3): Show a0001c0001t0001g0043 a0001c0001t0015g0131 a0001c0001t0026g0298 a0001c0002t0002g0088 a0002c0003t0001g0254 a0002c0003t0001g0278	6	308	0.0195	21	c.858 others(38): Show c.858-4837_858-4836insTTTTTTTTTTTTTTTTTTTTT	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMP7_chr20_57163753_57271641	57216597	G G	GCTGTCTC others(14): Show GCTGTCTCCTGAGGGTGAGGGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03688.hp2 HG00280.hp1 HG03688.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0028 a0001c0003t0016 a0001c0003t0028	a0001c0003t0016g0265 a0001c0003t0028g0266 a0001c0003t0016g0265 a0001c0003t0028g0266	2	272	0.0074	21	c.611 others(40): Show c.611+11611_611+11631dupTCCCTCACCCTCAGGAGACAG	BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	2/6			chr20	TogoVar
BMP7_chr20_57163753_57271641	57218397	G G	GTGTTTGG others(14): Show GTGTTTGGTGGTAGCTGGTGTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(177): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00438.hp2 HG00609.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18959.hp1 NA18971.hp2 NA18980.hp1 NA18980.hp2 NA18998.hp1 NA19005.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19066.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0009 a0001c0004t0002 a0001c0005t0011 a0001c0007t0002 a0001c0008t0002 a0001c0009t0001 a0002c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0028 a0001c0001t0001g0034 others(174): Show a0001c0001t0001g0002 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0037 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0114 a0001c0001t0002g0124 a0001c0001t0002g0130 a0001c0001t0002g0135 a0001c0001t0002g0156 a0001c0001t0002g0159 a0001c0001t0002g0174 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0192 a0001c0001t0002g0225 a0001c0001t0003g0026 a0001c0001t0003g0029 a0001c0001t0003g0039 a0001c0001t0003g0043 a0001c0001t0003g0045 a0001c0001t0003g0050 a0001c0001t0003g0097 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0004g0241 a0001c0001t0004g0242 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0005g0065 a0001c0001t0005g0120 a0001c0001t0005g0121 a0001c0001t0005g0144 a0001c0001t0005g0158 a0001c0001t0005g0162 a0001c0001t0006g0232 a0001c0001t0006g0243 a0001c0001t0006g0247 a0001c0001t0006g0251 a0001c0001t0006g0252 a0001c0001t0006g0258 a0001c0001t0006g0259 a0001c0001t0006g0260 a0001c0001t0007g0126 a0001c0001t0007g0131 a0001c0001t0007g0143 a0001c0001t0007g0182 a0001c0001t0007g0186 a0001c0001t0008g0003 a0001c0001t0008g0078 a0001c0001t0009g0042 a0001c0001t0009g0103 a0001c0001t0010g0118 a0001c0001t0012g0233 a0001c0001t0013g0261 a0001c0001t0013g0262 a0001c0001t0014g0237 a0001c0001t0014g0257 a0001c0001t0015g0239 a0001c0001t0016g0264 a0001c0001t0017g0125 a0001c0001t0018g0201 a0001c0001t0019g0224 a0001c0001t0023g0038 a0001c0001t0025g0246 a0001c0001t0026g0248 a0001c0001t0027g0263 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 a0001c0002t0003g0001 a0001c0002t0003g0010 a0001c0002t0003g0017 a0001c0002t0003g0018 a0001c0002t0003g0019 a0001c0002t0007g0007 a0001c0002t0009g0015 a0001c0004t0002g0127 a0001c0005t0011g0234 a0001c0005t0011g0235 a0001c0007t0002g0067 a0001c0008t0002g0058 a0001c0009t0001g0075 a0002c0006t0001g0076 a0002c0006t0001g0079	180	272	0.6618	21	c.611 others(38): Show c.611+9811_611+9831dupAACACCAGCTACCACCAAACA	BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	2/6			chr20	TogoVar
BMPR1A_chr10_86751619_86932969	86835549	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0274 a0002c0001t0001g0274	1	278	0.0036	21	c.-26 others(40): Show c.-267-3297_-267-3277dupAAAAAAAAAAAAAAAAAAAAA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86906723	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01175.hp2 HG00673.hp2 HG01175.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0019 a0002c0001t0002 a0002c0001t0019	a0002c0001t0002g0173 a0002c0001t0019g0119 a0002c0001t0002g0173 a0002c0001t0019g0119	2	278	0.0072	21	c.531 others(38): Show c.531-5498_531-5478dupAAAAAAAAAAAAAAAAAAAAA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1B_chr4_94752955_95163448	94908093	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	226	0.0044	21	c.-11 others(42): Show c.-113+32197_-113+32198insAAAAAAAAAAGAAAAAGAAAA	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94970302	T T	TTCTCTTC others(14): Show TTCTCTTCTTTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02080.hp2 NA18952.hp1 others(8): Show HG01884.hp2 HG02080.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18961.hp1 NA18962.hp2 NA19007.hp1 NA19012.hp1 NA19056.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0037	a0001c0001t0001g0057 a0001c0001t0001g0095 a0001c0001t0001g0147 others(8): Show a0001c0001t0001g0057 a0001c0001t0001g0095 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0005g0056 a0001c0001t0005g0132 a0001c0001t0005g0162 a0001c0001t0006g0160 a0001c0001t0006g0181 a0001c0001t0007g0019 a0001c0001t0037g0129	11	226	0.0487	21	c.-11 others(42): Show c.-112-25735_-112-25734insCTTCTTTCTCTCTCTCTCTCT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95026165	T T	TCTTTCTT others(14): Show TCTTTCTTTCTTTCTTTCTCTC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0127 a0001c0001t0028g0127	1	226	0.0044	21	c.-18 others(40): Show c.-18+30031_-18+30032insCTTTCTTTCTTTCTTTCTCTC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12			chr4	TogoVar
BMPR2_chr2_202371327_202572749	202384569	T T	TTTCTTTC others(14): Show TTTCTTTCTTTCTTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp2 HG00738.hp2 others(18): Show HG00621.hp2 HG00642.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01123.hp2 HG01257.hp1 HG01261.hp2 HG02056.hp2 HG02155.hp2 HG02257.hp2 HG02293.hp1 HG02615.hp1 HG02723.hp1 HG03942.hp1 HG04199.hp1 NA18522.hp1 NA18906.hp2 NA19085.hp1 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0041 a0001c0001t0043	a0001c0001t0001g0116 a0001c0001t0001g0139 a0001c0001t0001g0168 others(18): Show a0001c0001t0001g0116 a0001c0001t0001g0139 a0001c0001t0001g0168 a0001c0001t0001g0194 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0004g0089 a0001c0001t0004g0119 a0001c0001t0004g0161 a0001c0001t0004g0211 a0001c0001t0004g0220 a0001c0001t0005g0224 a0001c0001t0007g0189 a0001c0001t0008g0207 a0001c0001t0010g0040 a0001c0001t0010g0041 a0001c0001t0014g0033 a0001c0001t0041g0143 a0001c0001t0043g0167	21	224	0.0938	21	c.76+ others(36): Show c.76+7021_76+7022insCTTTCTTTCTTTTTCTTTCTT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202434908	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0068 a0001c0002t0002g0068	1	224	0.0045	21	c.77- others(38): Show c.77-29900_77-29899insAAAAAAATATATATATATATA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202434908	A A	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG04115.hp2 HG02155.hp1 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0044 a0001c0002t0012 a0001c0002t0044	a0001c0002t0012g0050 a0001c0002t0044g0061 a0001c0002t0012g0050 a0001c0002t0044g0061	2	224	0.0089	21	c.77- others(38): Show c.77-29900_77-29899insAAAAATATATATATATATATA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202434908	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0014 a0001c0001t0015g0014	1	224	0.0045	21	c.77- others(38): Show c.77-29900_77-29899insAAATATATATATATATATATA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202434908	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 homoSapiens_chm13v2.hp1 HG01123.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0015 a0001c0001t0006 a0001c0001t0015	a0001c0001t0006g0063 a0001c0001t0015g0028 a0001c0001t0006g0063 a0001c0001t0015g0028	2	224	0.0089	21	c.77- others(38): Show c.77-29900_77-29899insATATATATATATATATATATA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202572271	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0208 a0001c0001t0003g0208	1	224	0.0045	21	c.12 others(34): Show c.12325_*12326insTTTTTTTTTTTTTTTTTTTTT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding		4523		chr2	TogoVar
BORCS8_chr19_19171906_19197152	19177692	G G	GAGAAAAG others(14): Show GAGAAAAGAAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	428	0.0023	21	c.43 others(36): Show c.43-233_*43-232insTTTTCTTTTCTTTTCTTTTCT	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BPGM_chr7_134641853_134684816	134658892	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	362	0.0028	21	c.-61 others(38): Show c.-61-2545_-61-2544insTTTTTTTTTTTTTTTTTTTTT	BPGM	ENSG00000172331.12	transcript	ENST00000344924.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
BPIFB1_chr20_33278214_33314871	33279882	T T	TCTCTCTC others(14): Show TCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0052 a0004c0004t0001g0052	1	388	0.0026	21	c.-34 others(32): Show c.-3414_-3413insCTCTCTCTCTCTCTCTCTCTC	BPIFB1	ENSG00000125999.11	transcript	ENST00000253354.2	protein_coding		3331		chr20	TogoVar
BPIFB3_chr20_33048903_33078847	33052586	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	374	0.0027	21	c.-13 others(32): Show c.-1394_-1393insTATATATATATATATATATAT	BPIFB3	ENSG00000186190.8	transcript	ENST00000375494.4	protein_coding		1316		chr20	TogoVar
BPIFC_chr22_32408845_32469446	32424574	T T	TTTCTTCT others(14): Show TTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG04115.hp2 HG02258.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0202 a0001c0001t0002g0185 a0001c0001t0001g0202 a0001c0001t0002g0185	2	422	0.0047	21	c.121 others(40): Show c.1218-5191_1218-5171dupGAAGAAGAAGAAGAAGAAGAA	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424592	C C	CTTCTTCT others(14): Show CTTCTTCTTCTTCTTCTTCTTT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0018 a0018	a0018c0014 a0018c0014	a0018c0014t0002 a0018c0014t0002	a0018c0014t0002g0404 a0018c0014t0002g0404	1	422	0.0024	21	c.121 others(40): Show c.1218-5189_1218-5188insAAAGAAGAAGAAGAAGAAGAA	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424642	C C	CTCTTCTT others(14): Show CTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01070.hp2 HG01071.hp1 others(1): Show HG00423.hp2 HG01070.hp2 HG01071.hp1 NA20905.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0001 a0005c0005t0001 a0002c0002t0001 a0005c0005t0001	a0002c0002t0001g0110 a0002c0002t0001g0358 a0002c0002t0001g0376 others(1): Show a0002c0002t0001g0110 a0002c0002t0001g0358 a0002c0002t0001g0376 a0005c0005t0001g0086	4	422	0.0095	21	c.121 others(40): Show c.1218-5259_1218-5239dupAGAAGAAGAAGAAGAAGAAGA	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424741	C C	CTCTTCTT others(14): Show CTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0200 a0009c0009t0001g0200	1	422	0.0024	21	c.121 others(40): Show c.1218-5338_1218-5337insAGAAGAAGAAGAAGAAGAAGA	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424753	C C	CTCTTCTT others(14): Show CTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0049 a0003c0003t0003g0049	1	422	0.0024	21	c.121 others(40): Show c.1218-5370_1218-5350dupAGAAGAAGAAGAAGAAGAAGA	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPI_chr20_38299156_38342505	38339638	G G	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG04228.hp2 HG02683.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0334 a0001c0001t0003g0335 a0001c0001t0003g0334 a0001c0001t0003g0335	2	426	0.0047	21	c.24 others(32): Show c.2454_*2455insAAAAAAAAAAAAAAAAAAAAA	BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding		2134		chr20	TogoVar
BPTF_chr17_67820503_67989378	67917130	C C	CATTGTCC others(14): Show CATTGTCCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0004 a0002c0006t0002g0004	1	274	0.0037	21	c.530 others(40): Show c.5304-1584_5304-1583insATTGTCCTTTTTTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	11/27			chr17	TogoVar
BPTF_chr17_67820503_67989378	67917131	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18747.hp2 HG03516.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0257 a0002c0002t0002g0263 a0002c0002t0002g0257 a0002c0002t0002g0263	2	274	0.0073	21	c.530 others(40): Show c.5304-1564_5304-1563insTTTTTTTTTTTTTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	11/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67984630	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	274	0.0037	21	c.23 others(32): Show c.2342_*2343insTTTTTTTTTTTTTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding		253		chr17	TogoVar
BRAF_chr7_140714337_140929929	140906087	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	190	0.0053	21	c.138 others(40): Show c.138+18458_138+18478dupTTTTTTTTTTTTTTTTTTTTT	BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	1/19			chr7	TogoVar
BRAF_chr7_140725665_140929929	140906087	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0154 a0001c0001t0029g0154	1	196	0.0051	21	c.138 others(40): Show c.138+18458_138+18478dupTTTTTTTTTTTTTTTTTTTTT	BRAF	ENSG00000157764.14	transcript	ENST00000646891.2	protein_coding	1/17			chr7	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)