Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BMPR1B_chr4_94752955_95163448	94981005	A A	ACGCGCGC others(11): Show ACGCGCGCGTACGCGCGCG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02965.hp2 HG02886.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0034 a0001c0001t0032 a0001c0001t0034	a0001c0001t0032g0205 a0001c0001t0034g0198 a0001c0001t0032g0205 a0001c0001t0034g0198	2	96	0.0208	18	c.-11 others(39): Show c.-112-15034_-112-15033insGCGCGCGTACGCGCGCGC	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(11): Show TCTTTCTTTCTTTCTTCTC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	221	0.0045	18	c.-18 others(37): Show c.-18+30031_-18+30032insCTTTCTTTCTTTCTTCTC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12			chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95071650	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01884.hp1 HG02257.hp1 others(3): Show HG01255.hp2 HG01884.hp1 HG02257.hp1 HG02976.hp1 NA18948.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0001 a0001c0001t0002 a0001c0001t0013	a0001c0001t0001g0069 a0001c0001t0001g0146 a0001c0001t0002g0062 others(3): Show a0001c0001t0001g0069 a0001c0001t0001g0146 a0001c0001t0002g0062 a0001c0001t0002g0169 a0001c0001t0013g0015 a0001c0001t0013g0016	6	170	0.0353	18	c.-17 others(37): Show c.-17-32757_-17-32756insATATATATATATATATAT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95127044	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG00735.hp2 others(10): Show HG00639.hp2 HG00642.hp2 HG00735.hp2 HG01099.hp2 HG01106.hp1 HG01255.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG03540.hp2 HG03688.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0061 a0001c0001t0002 a0001c0001t0003 a0001c0001t0061	a0001c0001t0002g0043 a0001c0001t0002g0187 a0001c0001t0002g0224 others(10): Show a0001c0001t0002g0043 a0001c0001t0002g0187 a0001c0001t0002g0224 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0064 a0001c0001t0003g0099 a0001c0001t0003g0107 a0001c0001t0003g0123 a0001c0001t0003g0143 a0001c0001t0061g0101	13	121	0.1074	18	c.585 others(35): Show c.585+1933_585+1950dupGTGTGTGTGTGTGTGTGT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR2_chr2_202371327_202572749	202373158	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	59	0.0169	18	c.-43 others(29): Show c.-4317_-4316insTTTTTTTTTTTTTTTTTT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding		3168		chr2	TogoVar
BMPR2_chr2_202371327_202572749	202434906	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03017.hp1 HG01175.hp1 HG03017.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0006 a0001c0002 a0005c0006	a0001c0002t0002 a0005c0006t0002 a0001c0002t0002 a0005c0006t0002	a0001c0002t0002g0072 a0005c0006t0002g0110 a0001c0002t0002g0072 a0005c0006t0002g0110	2	201	0.0100	18	c.77- others(35): Show c.77-29902_77-29901insTATATATATATATATATA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202434908	A A	AAAAAATA others(11): Show AAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03669.hp1 HG02622.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0002 a0001c0001t0014 a0001c0002t0002	a0001c0001t0014g0144 a0001c0002t0002g0107 a0001c0001t0014g0144 a0001c0002t0002g0107	2	137	0.0146	18	c.77- others(35): Show c.77-29900_77-29899insAAAATATATATATATATA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202485545	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00741.hp1 HG01175.hp2 others(29): Show HG00544.hp2 HG00741.hp1 HG01175.hp2 HG01192.hp1 HG01257.hp2 HG01261.hp1 HG01361.hp2 HG01928.hp1 HG01993.hp1 HG02027.hp2 HG02071.hp1 HG02129.hp2 HG02300.hp2 HG02451.hp2 HG03130.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18965.hp2 NA18987.hp2 NA19009.hp1 NA19009.hp2 NA19070.hp1 NA19090.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(11): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0016 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0001t0035 a0001c0001t0038 a0001c0001t0040 a0001c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0091 others(29): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0102 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0007g0146 a0001c0001t0007g0188 a0001c0001t0011g0044 a0001c0001t0016g0176 a0001c0001t0016g0181 a0001c0001t0021g0138 a0001c0001t0025g0172 a0001c0001t0026g0096 a0001c0001t0029g0095 a0001c0001t0030g0163 a0001c0001t0033g0200 a0001c0001t0035g0184 a0001c0001t0038g0136 a0001c0001t0040g0168 a0001c0005t0001g0048	32	41	0.7805	18	c.418 others(37): Show c.418+17858_418+17875dupTTTTTTTTTTTTTTTTTT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202572271	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01123.hp2 HG01978.hp1 HG00642.hp1 HG01123.hp2 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0023 a0001c0001t0003g0026 a0001c0001t0003g0027	3	5	0.6000	18	c.12 others(31): Show c.12325_*12326insTTTTTTTTTTTTTTTTTT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding		4523		chr2	TogoVar
BMT2_chr7_112814147_112944875	112871736	C C	CAGACCAC others(11): Show CAGACCACTAGTTAAACAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02109.hp2 HG02145.hp1 others(12): Show HG01168.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp2 HG02895.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03453.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(11): Show a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0006g0007 a0001c0001t0006g0057 a0001c0001t0006g0058 a0001c0001t0006g0059 a0001c0001t0006g0060 a0001c0001t0006g0081 a0001c0001t0006g0082 a0001c0001t0006g0083	15	204	0.0735	18	c.473 others(37): Show c.473+23815_473+23832dupTTGTTTAACTAGTGGTCT	BMT2	ENSG00000164603.12	transcript	ENST00000297145.9	protein_coding	3/4			chr7	TogoVar
BNC1_chr15_83250884_83289664	83285253	G G	GCACACAC others(11): Show GCACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0134 a0001c0001t0003g0134	1	73	0.0137	18	c.-62 others(27): Show c.-626_-625insTGTGTGTGTGTGTGTGTG	BNC1	ENSG00000169594.14	transcript	ENST00000345382.7	protein_coding		590		chr15	TogoVar
BNC2_chr9_16404503_16875670	16418873	G G	GCACACAC others(11): Show GCACACACACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0109 a0001c0001t0109	a0001c0001t0109g0033 a0001c0001t0109g0033	1	43	0.0233	18	c.98 others(26): Show c.98_*115dupTGTGTGTGTGTGTGTGTG	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	7/7	115		chr9	TogoVar
BNC2_chr9_16404503_16875670	16677578	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01928.hp2 HG01978.hp1 others(9): Show HG01106.hp1 HG01928.hp2 HG01978.hp1 HG02602.hp2 HG02735.hp1 HG02895.hp2 HG02897.hp1 HG03704.hp2 HG04199.hp1 HG06807.hp2 NA19030.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0008 a0001c0001 a0001c0002 a0003c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0022 a0001c0001t0024 a0001c0001t0032 a0001c0001t0047 a0001c0001t0051 a0001c0001t0057 a0001c0002t0006 a0003c0008t0025	a0001c0001t0001g0034 a0001c0001t0004g0006 a0001c0001t0011g0023 others(9): Show a0001c0001t0001g0034 a0001c0001t0004g0006 a0001c0001t0011g0023 a0001c0001t0022g0032 a0001c0001t0022g0135 a0001c0001t0024g0018 a0001c0001t0032g0152 a0001c0001t0047g0140 a0001c0001t0051g0146 a0001c0001t0057g0172 a0001c0002t0006g0070 a0003c0008t0025g0066	12	24	0.5000	18	c.330 others(37): Show c.330+50201_330+50218dupGTGTGTGTGTGTGTGTGT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16677606	C C	CACACACA others(11): Show CACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02615.hp1 others(6): Show HG02109.hp1 HG02257.hp2 HG02615.hp1 HG02723.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03516.hp1 NA21309.hp2	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0005c0006 a0008c0013 a0001c0001 a0005c0006 a0008c0013	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0104 a0001c0001t0106 a0005c0006t0026 a0008c0013t0103	a0001c0001t0001g0039 a0001c0001t0007g0065 a0001c0001t0007g0086 others(6): Show a0001c0001t0001g0039 a0001c0001t0007g0065 a0001c0001t0007g0086 a0001c0001t0009g0117 a0001c0001t0013g0027 a0001c0001t0104g0087 a0001c0001t0106g0042 a0005c0006t0026g0047 a0008c0013t0103g0019	9	171	0.0526	18	c.330 others(37): Show c.330+50190_330+50191insCTGTGTGTGTGTGTGTGT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16751696	A A	ATATATAT others(11): Show ATATATATGTATGTGTGTG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01884.hp2 HG02055.hp2 others(5): Show HG01074.hp1 HG01884.hp2 HG02055.hp2 HG02258.hp2 HG02559.hp2 HG02572.hp2 HG03225.hp1 HG03471.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0006 a0001c0001 a0001c0002 a0005c0006	a0001c0001t0003 a0001c0001t0025 a0001c0001t0048 others(4): Show a0001c0001t0003 a0001c0001t0025 a0001c0001t0048 a0001c0001t0097 a0001c0002t0067 a0001c0002t0099 a0005c0006t0026	a0001c0001t0003g0016 a0001c0001t0003g0046 a0001c0001t0025g0024 others(5): Show a0001c0001t0003g0016 a0001c0001t0003g0046 a0001c0001t0025g0024 a0001c0001t0048g0116 a0001c0001t0097g0080 a0001c0002t0067g0138 a0001c0002t0099g0088 a0005c0006t0026g0049	8	160	0.0500	18	c.4-1 others(33): Show c.4-13212_4-13211insCACACACATACATATATA	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	1/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16751698	A A	ATATATGT others(11): Show ATATATGTATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00558.hp1 others(112): Show HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01192.hp2 HG01243.hp2 HG01361.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01978.hp1 HG02015.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03831.hp2 HG04184.hp2 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18943.hp1 NA18943.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0006 a0008 a0009 a0012 a0013	a0001c0001 a0001c0002 a0001c0007 others(9): Show a0001c0001 a0001c0002 a0001c0007 a0001c0016 a0002c0003 a0004c0004 a0005c0006 a0006c0012 a0008c0013 a0009c0014 a0012c0010 a0013c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(74): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0045 a0001c0001t0049 a0001c0001t0057 a0001c0001t0062 a0001c0001t0063 a0001c0001t0065 a0001c0001t0066 a0001c0001t0071 a0001c0001t0072 a0001c0001t0074 a0001c0001t0076 a0001c0001t0077 a0001c0001t0080 a0001c0001t0085 a0001c0001t0086 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0093 a0001c0001t0095 a0001c0001t0096 a0001c0001t0098 a0001c0001t0101 a0001c0001t0102 a0001c0001t0104 a0001c0001t0106 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0002t0006 a0001c0002t0027 a0001c0002t0029 a0001c0002t0094 a0001c0007t0054 a0001c0016t0092 a0002c0003t0001 a0002c0003t0069 a0004c0004t0059 a0004c0004t0061 a0005c0006t0026 a0006c0012t0023 a0008c0013t0103 a0009c0014t0046 a0012c0010t0001 a0013c0018t0058	a0001c0001t0001g0002 a0001c0001t0001g0026 a0001c0001t0001g0029 others(112): Show a0001c0001t0001g0002 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0143 a0001c0001t0001g0150 a0001c0001t0002g0113 a0001c0001t0002g0141 a0001c0001t0002g0147 a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0003g0063 a0001c0001t0003g0106 a0001c0001t0004g0006 a0001c0001t0004g0054 a0001c0001t0004g0127 a0001c0001t0004g0153 a0001c0001t0005g0010 a0001c0001t0005g0163 a0001c0001t0007g0065 a0001c0001t0007g0086 a0001c0001t0007g0160 a0001c0001t0008g0014 a0001c0001t0008g0015 a0001c0001t0008g0174 a0001c0001t0009g0062 a0001c0001t0009g0117 a0001c0001t0010g0112 a0001c0001t0010g0142 a0001c0001t0010g0148 a0001c0001t0011g0109 a0001c0001t0011g0111 a0001c0001t0013g0027 a0001c0001t0015g0071 a0001c0001t0016g0162 a0001c0001t0017g0131 a0001c0001t0017g0149 a0001c0001t0019g0017 a0001c0001t0019g0118 a0001c0001t0021g0064 a0001c0001t0022g0032 a0001c0001t0024g0018 a0001c0001t0024g0133 a0001c0001t0028g0115 a0001c0001t0030g0108 a0001c0001t0031g0129 a0001c0001t0031g0161 a0001c0001t0032g0152 a0001c0001t0033g0009 a0001c0001t0035g0167 a0001c0001t0036g0151 a0001c0001t0037g0059 a0001c0001t0038g0156 a0001c0001t0039g0139 a0001c0001t0040g0007 a0001c0001t0041g0157 a0001c0001t0043g0154 a0001c0001t0045g0096 a0001c0001t0049g0067 a0001c0001t0057g0172 a0001c0001t0062g0028 a0001c0001t0063g0077 a0001c0001t0065g0107 a0001c0001t0066g0136 a0001c0001t0071g0074 a0001c0001t0072g0132 a0001c0001t0074g0031 a0001c0001t0076g0122 a0001c0001t0077g0011 a0001c0001t0080g0083 a0001c0001t0085g0089 a0001c0001t0086g0068 a0001c0001t0088g0092 a0001c0001t0089g0038 a0001c0001t0090g0164 a0001c0001t0091g0030 a0001c0001t0093g0104 a0001c0001t0095g0050 a0001c0001t0096g0055 a0001c0001t0098g0158 a0001c0001t0101g0025 a0001c0001t0102g0001 a0001c0001t0104g0087 a0001c0001t0106g0042 a0001c0001t0108g0126 a0001c0001t0109g0033 a0001c0001t0110g0008 a0001c0002t0006g0035 a0001c0002t0027g0013 a0001c0002t0029g0057 a0001c0002t0029g0175 a0001c0002t0094g0168 a0001c0007t0054g0075 a0001c0016t0092g0085 a0002c0003t0001g0005 a0002c0003t0001g0105 a0002c0003t0001g0110 a0002c0003t0001g0130 a0002c0003t0001g0155 a0002c0003t0069g0043 a0004c0004t0059g0120 a0004c0004t0061g0137 a0005c0006t0026g0047 a0006c0012t0023g0091 a0008c0013t0103g0019 a0009c0014t0046g0078 a0012c0010t0001g0124 a0013c0018t0058g0058	115	156	0.7372	18	c.4-1 others(33): Show c.4-13214_4-13213insCACACACACATACATATA	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	1/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16811237	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAACC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02965.hp2 HG02895.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0086 a0001c0001t0007g0160 a0001c0001t0007g0086 a0001c0001t0007g0160	2	170	0.0118	18	c.3+5 others(33): Show c.3+59408_3+59409insGGTTTTTTTTTTTTTTTT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	1/6			chr9	TogoVar
BOC_chr3_113206557_113292459	113236292	A A	ATATATAT others(11): Show ATATATATATACCCATGGG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0058 a0001c0002t0002g0058	1	380	0.0026	18	c.-81 others(37): Show c.-81-13420_-81-13419insCCCATGGGTATATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOK_chr2_241553745_241579131	241558052	G G	GAAACAGA others(11): Show GAAACAGACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00673.hp1 others(4): Show HG00280.hp2 HG00323.hp2 HG00673.hp1 HG02080.hp2 HG02132.hp2 HG02922.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0027 a0001c0001t0010g0055 a0001c0001t0010g0057 others(2): Show a0001c0001t0001g0027 a0001c0001t0010g0055 a0001c0001t0010g0057 a0001c0001t0010g0274 a0001c0001t0010g0275	7	210	0.0333	18	c.-97 others(27): Show c.-971_-970insAAACAGACACACACACAC	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding		692		chr2	TogoVar
BOK_chr2_241553745_241579131	241572217	A A	ACGGTGCT others(11): Show ACGGTGCTGGGGGGCCTGG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02717.hp1 HG03098.hp1 HG01099.hp2 HG02717.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	3	432	0.0069	18	c.514 others(31): Show c.514-67_514-50dupGCCTGGCGGTGCTGGGGG	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
BOLL_chr2_197721890_197790319	197754750	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0092 a0001c0001t0004g0092	1	86	0.0116	18	c.729 others(35): Show c.729+1660_729+1677dupGTGTGTGTGTGTGTGTGT	BOLL	ENSG00000152430.19	transcript	ENST00000392296.9	protein_coding	9/10			chr2	TogoVar
BOP1_chr8_144257045_144296438	144283201	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	103	0.0097	18	c.309 others(35): Show c.309+5876_309+5893dupTTTTTTTTTTTTTTTTTT	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BORA_chr13_72722923_72761196	72724752	A A	ATATATAT others(11): Show ATATATATATATATGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG02258.hp2 others(2): Show HG01516.hp2 HG01517.hp1 HG02258.hp2 HG02886.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0070 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0070 a0001c0001t0001g0109	5	54	0.0926	18	c.-32 others(29): Show c.-3271_-3270insTATATATATATATGTGTG	BORA	ENSG00000136122.18	transcript	ENST00000390667.11	protein_coding		3170		chr13	TogoVar
BORA_chr13_72722923_72761196	72724752	A A	ATATATAT others(11): Show ATATATATATGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01258.hp2 HG01978.hp1 others(9): Show HG00609.hp1 HG01258.hp2 HG01978.hp1 HG02027.hp2 HG03017.hp1 NA18906.hp2 NA18946.hp1 NA18982.hp1 NA18984.hp2 NA18988.hp1 NA19074.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0002c0004t0002	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0138 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0138 a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0157 a0001c0002t0001g0010 a0001c0002t0001g0140 a0002c0004t0002g0002	12	61	0.1967	18	c.-32 others(29): Show c.-3271_-3270insTATATATATGTGTGTGTG	BORA	ENSG00000136122.18	transcript	ENST00000390667.11	protein_coding		3170		chr13	TogoVar
BORA_chr13_72722923_72761196	72724752	A A	ATATATAT others(11): Show ATATATATGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	50	0.0200	18	c.-32 others(29): Show c.-3271_-3270insTATATATGTGTGTGTGTG	BORA	ENSG00000136122.18	transcript	ENST00000390667.11	protein_coding		3170		chr13	TogoVar
BORA_chr13_72722923_72761196	72724752	A A	ATATATGT others(11): Show ATATATGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	50	0.0200	18	c.-32 others(29): Show c.-3271_-3270insTATATGTGTGTGTGTGTG	BORA	ENSG00000136122.18	transcript	ENST00000390667.11	protein_coding		3170		chr13	TogoVar
BORCS8_chr19_19171906_19197152	19174385	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02486.hp1 HG02895.hp2 others(2): Show HG01884.hp2 HG02486.hp1 HG02895.hp2 HG02922.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0033 a0002c0002t0001g0012 a0002c0002t0001g0079 others(1): Show a0001c0001t0002g0033 a0002c0002t0001g0012 a0002c0002t0001g0079 a0002c0002t0001g0131	5	109	0.0459	18	c.31 others(29): Show c.3100_*3117dupAAAAAAAAAAAAAAAAAA	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding		2520		chr19	TogoVar
BORCS8_chr19_19171906_19197152	19177696	G G	GGAAGGAA others(11): Show GGAAGGAAGAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 NA18994.hp2 NA19070.hp1 HG01168.hp1 NA18994.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0013 a0001c0001t0005g0039 a0001c0001t0005g0099 a0001c0001t0001g0013 a0001c0001t0005g0039 a0001c0001t0005g0099	3	230	0.0130	18	c.43 others(33): Show c.43-237_*43-236insTTTCTTTTCTCTTCCTTC	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BPGM_chr7_134641853_134684816	134646897	G G	GGCTGCTG others(11): Show GGCTGCTGCTGCTGCTGCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0055 a0001c0001t0008g0055	1	340	0.0029	18	c.-94 others(25): Show c.-94_-77dupCTGCTGCTGCTGCTGCTG	BPGM	ENSG00000172331.12	transcript	ENST00000344924.8	protein_coding	1/3	14585	INFO_REALIGN_3_PRIME	chr7	TogoVar
BPGM_chr7_134641853_134684816	134658892	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03540.hp1 others(2): Show HG02896.hp1 HG02897.hp1 HG03540.hp1 NA18995.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0156 a0001c0001t0001g0171 others(1): Show a0001c0001t0001g0043 a0001c0001t0001g0156 a0001c0001t0001g0171 a0001c0001t0001g0173	5	41	0.1220	18	c.-61 others(35): Show c.-61-2545_-61-2544insTTTTTTTTTTTTTTTTTT	BPGM	ENSG00000172331.12	transcript	ENST00000344924.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
BPHL_chr6_3113711_3158578	3145294	C C	CGAGTGCT others(11): Show CGAGTGCTGGTTCGGGGTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01123.hp2 others(10): Show HG00735.hp1 HG00741.hp1 HG01123.hp2 HG01175.hp1 HG01934.hp1 HG02148.hp1 HG02155.hp1 HG02486.hp2 HG02602.hp2 HG02622.hp2 HG02698.hp2 HG04199.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0013 a0001c0001t0001g0071 a0001c0001t0001g0089 others(7): Show a0001c0001t0001g0013 a0001c0001t0001g0071 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0009g0039	13	292	0.0445	18	c.788 others(35): Show c.788+4832_788+4849dupTCGGGGTGGAGTGCTGGT	BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BPHL_chr6_3113711_3158578	3145482	A A	ATTCGGGG others(11): Show ATTCGGGGTGGAGTGCTGG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	322	0.0031	18	c.788 others(35): Show c.788+4995_788+5012dupGGGGTGGAGTGCTGGTTC	BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BPHL_chr6_3113711_3158578	3146146	T T	TTGGAGTG others(11): Show TTGGAGTGCTGGTTCGGGG	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	264	0.0038	18	c.788 others(35): Show c.788+5686_788+5703dupTCGGGGTGGAGTGCTGGT	BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BPIFA1_chr20_33230996_33248306	33231205	G G	GGAAGGAA others(11): Show GGAAGGAAAGAAAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	245	0.0041	18	c.-48 others(29): Show c.-4861_-4860insGAAGGAAAGAAAAAGAAA	BPIFA1	ENSG00000198183.13	transcript	ENST00000354297.9	protein_coding		4790		chr20	TogoVar
BPIFA1_chr20_33230996_33248306	33231212	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18992.hp1 NA18960.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0006 a0001c0001t0001g0019	2	380	0.0053	18	c.-48 others(29): Show c.-4854_-4853insAGAAAGAAAGAAAGAAAG	BPIFA1	ENSG00000198183.13	transcript	ENST00000354297.9	protein_coding		4783		chr20	TogoVar
BPIFA3_chr20_33212352_33232806	33213100	G G	GTGTGTAT others(11): Show GTGTGTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02451.hp2 HG03225.hp1 others(2): Show HG01891.hp2 HG02451.hp2 HG03225.hp1 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0025 a0001c0001t0002g0023 a0001c0001t0002g0042 a0001c0001t0001g0025 a0001c0001t0002g0023 a0001c0001t0002g0042	5	377	0.0133	18	c.-44 others(29): Show c.-4437_-4436insTGTGTATATATATATATA	BPIFA3	ENSG00000131059.12	transcript	ENST00000375454.8	protein_coding		4251		chr20	TogoVar
BPIFA3_chr20_33212352_33232806	33231205	G G	GGAAGGAA others(11): Show GGAAGGAAAGAAAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	254	0.0039	18	c.35 others(29): Show c.3588_*3589insGAAGGAAAGAAAAAGAAA	BPIFA3	ENSG00000131059.12	transcript	ENST00000375454.8	protein_coding		3400		chr20	TogoVar
BPIFA3_chr20_33212352_33232806	33231212	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 NA18960.hp1 NA18992.hp2 HG01952.hp1 NA18960.hp1 NA18992.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0070 a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0070	3	414	0.0072	18	c.35 others(29): Show c.3595_*3596insAGAAAGAAAGAAAGAAAG	BPIFA3	ENSG00000131059.12	transcript	ENST00000375454.8	protein_coding		3407		chr20	TogoVar
BPIFB3_chr20_33048903_33078847	33052530	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19240.hp1 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	2	302	0.0066	18	c.-14 others(29): Show c.-1450_-1449insTGTGTGTGTGTGTGTGTG	BPIFB3	ENSG00000186190.8	transcript	ENST00000375494.4	protein_coding		1372		chr20	TogoVar
BPIFB3_chr20_33048903_33078847	33052540	G G	GTATATAT others(11): Show GTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18969.hp1 NA19066.hp2 NA18945.hp2 NA18969.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0026 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0026	3	290	0.0103	18	c.-14 others(29): Show c.-1440_-1439insTATATATATATATATATA	BPIFB3	ENSG00000186190.8	transcript	ENST00000375494.4	protein_coding		1362		chr20	TogoVar
BPIFB3_chr20_33048903_33078847	33052542	G G	GTATATAT others(11): Show GTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	192	0.0052	18	c.-14 others(29): Show c.-1438_-1437insTATATATATATATATATA	BPIFB3	ENSG00000186190.8	transcript	ENST00000375494.4	protein_coding		1360		chr20	TogoVar
BPIFB3_chr20_33048903_33078847	33052544	G G	GTATATAT others(11): Show GTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	197	0.0051	18	c.-14 others(29): Show c.-1436_-1435insTATATATATATATATATA	BPIFB3	ENSG00000186190.8	transcript	ENST00000375494.4	protein_coding		1358		chr20	TogoVar
BPIFB3_chr20_33048903_33078847	33052546	G G	GTATATAT others(11): Show GTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	137	0.0073	18	c.-14 others(29): Show c.-1434_-1433insTATATATATATATATATA	BPIFB3	ENSG00000186190.8	transcript	ENST00000375494.4	protein_coding		1356		chr20	TogoVar
BPIFB4_chr20_33074643_33116751	33087753	C C	CACACACA others(11): Show CACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00558.hp2 others(46): Show HG00280.hp1 HG00438.hp2 HG00558.hp2 HG00735.hp1 HG01074.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01975.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02148.hp1 HG02258.hp2 HG02451.hp2 HG02683.hp2 HG02735.hp1 HG02895.hp1 HG02897.hp2 HG03139.hp2 HG03195.hp2 HG03486.hp2 HG03579.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 NA18940.hp1 NA18951.hp1 NA18953.hp2 NA18956.hp2 NA18974.hp2 NA18994.hp1 NA18998.hp2 NA19010.hp2 NA19064.hp1 NA19064.hp2 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19085.hp1 NA19086.hp2 NA20129.hp2 NA20905.hp2	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0008 a0019	a0001c0001 a0001c0013 a0002c0002 others(3): Show a0001c0001 a0001c0013 a0002c0002 a0007c0007 a0008c0008 a0019c0015	a0001c0001t0001 a0001c0013t0001 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0013t0001 a0002c0002t0001 a0007c0007t0001 a0008c0008t0001 a0019c0015t0001	a0001c0001t0001g0039 a0001c0001t0001g0134 a0001c0001t0001g0222 others(37): Show a0001c0001t0001g0039 a0001c0001t0001g0134 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0013t0001g0227 a0002c0002t0001g0010 a0002c0002t0001g0023 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0085 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0113 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0120 a0002c0002t0001g0122 a0007c0007t0001g0042 a0007c0007t0001g0043 a0007c0007t0001g0253 a0008c0008t0001g0018 a0008c0008t0001g0049 a0019c0015t0001g0086	49	129	0.3798	18	c.927 others(35): Show c.927-1212_927-1211insCACACACACACACACAAA	BPIFB4	ENSG00000186191.9	transcript	ENST00000375483.4	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPIFB4_chr20_33074643_33116751	33108423	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp1 HG02615.hp2 others(6): Show HG01109.hp1 HG02257.hp1 HG02615.hp2 HG02735.hp2 HG03130.hp2 HG03669.hp2 NA18906.hp2 NA18988.hp1 NA19084.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0003 a0005c0005t0001 a0005c0005t0003	a0005c0005t0001g0007 a0005c0005t0001g0019 a0005c0005t0001g0052 others(3): Show a0005c0005t0001g0007 a0005c0005t0001g0019 a0005c0005t0001g0052 a0005c0005t0001g0057 a0005c0005t0001g0058 a0005c0005t0003g0054	9	182	0.0495	18	c.182 others(35): Show c.1821+617_1821+618insTATATATATATATATATA	BPIFB4	ENSG00000186191.9	transcript	ENST00000375483.4	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPIFB4_chr20_33074643_33116751	33108436	T T	TATATATA others(11): Show TATATATATACACACACAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0070 a0004c0004t0001g0070	1	341	0.0029	18	c.182 others(35): Show c.1821+617_1821+618insTATATATACACACACACA	BPIFB4	ENSG00000186191.9	transcript	ENST00000375483.4	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPIFB4_chr20_33074643_33116751	33108436	T T	TATATATA others(11): Show TATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0016 a0016	a0016c0018 a0016c0018	a0016c0018t0001 a0016c0018t0001	a0016c0018t0001g0128 a0016c0018t0001g0128	1	341	0.0029	18	c.182 others(35): Show c.1821+617_1821+618insTATATATATACACACACA	BPIFB4	ENSG00000186191.9	transcript	ENST00000375483.4	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPIFC_chr22_32408845_32469446	32423577	G G	GGGGTGTG others(11): Show GGGGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0368 a0001c0001t0002g0368	1	164	0.0061	18	c.121 others(37): Show c.1218-4174_1218-4173insACACACACACACACACCC	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424642	C C	CTCTTCTT others(11): Show CTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA18943.hp2 NA18967.hp2 others(2): Show HG03942.hp1 NA18943.hp2 NA18967.hp2 NA18969.hp1 NA18988.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0001 a0002c0002t0002 a0005c0005t0001 a0002c0002t0001 a0002c0002t0002 a0005c0005t0001	a0002c0002t0001g0212 a0002c0002t0001g0328 a0002c0002t0001g0391 others(2): Show a0002c0002t0001g0212 a0002c0002t0001g0328 a0002c0002t0001g0391 a0002c0002t0002g0262 a0005c0005t0001g0211	5	253	0.0198	18	c.121 others(37): Show c.1218-5256_1218-5239dupAGAAGAAGAAGAAGAAGA	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424741	C C	CTCTTCTT others(11): Show CTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	369	0.0027	18	c.121 others(37): Show c.1218-5338_1218-5337insAGAAGAAGAAGAAGAAGA	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar

Search by Variant

Search

Search Results