Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
BPIFA3_chr20_33212352_33232806	33231201	G G	GGAAAGAA others(5): Show GGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 NA19062.hp1 HG00438.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0001 a0001c0001t0001g0006	2	416	0.0048	12	c.35 others(23): Show c.3584_*3585insGAAAGAAAGAAA	BPIFA3	ENSG00000131059.12	transcript	ENST00000375454.8	protein_coding		3396		chr20	TogoVar
BPIFA3_chr20_33212352_33232806	33231205	G G	GGAAAGAA others(5): Show GGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19086.hp1 NA19043.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0002g0009 a0001c0001t0001g0012 a0001c0001t0002g0009	2	416	0.0048	12	c.35 others(23): Show c.3588_*3589insGAAAGAAAGAAA	BPIFA3	ENSG00000131059.12	transcript	ENST00000375454.8	protein_coding		3400		chr20	TogoVar
BPIFA3_chr20_33212352_33232806	33231205	G G	GGAAGGAA others(5): Show GGAAGGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG02300.hp1 NA18943.hp2 others(3): Show HG00408.hp1 HG02300.hp1 NA18943.hp2 NA18946.hp2 NA19004.hp2 NA19067.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0024 a0002c0002t0001g0066 others(2): Show a0002c0002t0001g0002 a0002c0002t0001g0024 a0002c0002t0001g0066 a0002c0002t0001g0093 a0002c0002t0001g0106	6	416	0.0144	12	c.35 others(23): Show c.3588_*3589insGAAGGAAAGAAA	BPIFA3	ENSG00000131059.12	transcript	ENST00000375454.8	protein_coding		3400		chr20	TogoVar
BPIFB2_chr20_33002704_33028703	33025731	G G	GTCCATCC others(5): Show GTCCATCCATCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG00673.hp2 others(66): Show HG00323.hp2 HG00642.hp1 HG00673.hp2 HG00741.hp2 HG01099.hp1 HG01123.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01975.hp1 HG02056.hp1 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02257.hp1 HG02280.hp1 HG02630.hp1 HG02698.hp1 HG02809.hp2 HG02922.hp2 HG02965.hp1 HG03098.hp2 HG03139.hp2 HG03471.hp2 HG03486.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18945.hp2 NA18946.hp1 NA18950.hp1 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18963.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18991.hp2 NA18997.hp2 NA19002.hp1 NA19004.hp2 NA19057.hp1 NA19066.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19082.hp2 NA19085.hp2 NA20129.hp2 NA20805.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0006 a0011c0011	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0002c0003t0002 a0002c0006t0001 a0002c0006t0002 a0011c0011t0002	a0001c0001t0001g0028 a0001c0001t0001g0061 a0001c0001t0001g0158 others(34): Show a0001c0001t0001g0028 a0001c0001t0001g0061 a0001c0001t0001g0158 a0001c0001t0002g0004 a0001c0001t0002g0016 a0001c0001t0002g0046 a0001c0001t0002g0114 a0001c0001t0002g0118 a0001c0001t0002g0134 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0002t0002g0003 a0001c0002t0002g0006 a0001c0002t0002g0026 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0032 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0055 a0001c0002t0002g0064 a0001c0002t0002g0068 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0105 a0001c0002t0002g0107 a0001c0002t0002g0126 a0001c0002t0002g0161 a0001c0002t0002g0162 a0002c0003t0002g0117 a0002c0006t0001g0045 a0002c0006t0002g0044 a0011c0011t0002g0035	69	388	0.1778	12	c.23 others(23): Show c.2348_*2349insTCCATCCATCCA	BPIFB2	ENSG00000078898.7	transcript	ENST00000170150.4	protein_coding		2029		chr20	TogoVar
BPIFB2_chr20_33002704_33028703	33025792	A A	ATTTAGCT others(5): Show ATTTAGCTTTGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0083 a0001c0004t0003g0083	1	388	0.0026	12	c.24 others(23): Show c.2409_*2410insTTTAGCTTTGTT	BPIFB2	ENSG00000078898.7	transcript	ENST00000170150.4	protein_coding		2090		chr20	TogoVar
BPIFB3_chr20_33048903_33078847	33052540	G G	GTATATAT others(5): Show GTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG02071.hp2 HG02273.hp1 others(2): Show HG00558.hp1 HG02071.hp2 HG02273.hp1 NA18942.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	5	374	0.0134	12	c.-14 others(23): Show c.-1440_-1439insTATATATATATA	BPIFB3	ENSG00000186190.8	transcript	ENST00000375494.4	protein_coding		1362		chr20	TogoVar
BPIFB3_chr20_33048903_33078847	33052542	G G	GTATATAT others(5): Show GTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	374	0.0027	12	c.-14 others(23): Show c.-1438_-1437insTATATATATATA	BPIFB3	ENSG00000186190.8	transcript	ENST00000375494.4	protein_coding		1360		chr20	TogoVar
BPIFB3_chr20_33048903_33078847	33052544	G G	GTATATAT others(5): Show GTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp2 NA18906.hp2 others(4): Show HG02895.hp1 HG02897.hp2 NA18906.hp2 NA18979.hp1 NA18988.hp1 NA19009.hp1 NA19009.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0008 a0001c0001 a0003c0003 a0004c0008	a0001c0001t0001 a0003c0003t0001 a0004c0008t0001 a0001c0001t0001 a0003c0003t0001 a0004c0008t0001	a0001c0001t0001g0026 a0001c0001t0001g0137 a0003c0003t0001g0015 others(3): Show a0001c0001t0001g0026 a0001c0001t0001g0137 a0003c0003t0001g0015 a0003c0003t0001g0030 a0003c0003t0001g0055 a0004c0008t0001g0028	7	374	0.0187	12	c.-14 others(23): Show c.-1436_-1435insTATATATATATA	BPIFB3	ENSG00000186190.8	transcript	ENST00000375494.4	protein_coding		1358		chr20	TogoVar
BPIFB3_chr20_33048903_33078847	33052546	G G	GTATATAT others(5): Show GTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp2 NA19085.hp1 NA18999.hp2 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0036 a0002c0002t0002g0038 a0002c0002t0002g0036 a0002c0002t0002g0038	2	374	0.0054	12	c.-14 others(23): Show c.-1434_-1433insTATATATATATA	BPIFB3	ENSG00000186190.8	transcript	ENST00000375494.4	protein_coding		1356		chr20	TogoVar
BPIFB3_chr20_33048903_33078847	33052548	G G	GTATATAT others(5): Show GTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0013 a0002c0002t0002g0013	2	374	0.0054	12	c.-14 others(23): Show c.-1432_-1431insTATATATATATA	BPIFB3	ENSG00000186190.8	transcript	ENST00000375494.4	protein_coding		1354		chr20	TogoVar
BPIFB3_chr20_33048903_33078847	33074649	C C	CCCGTCCA others(5): Show CCCGTCCATCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0042 a0001c0009t0001g0042	1	374	0.0027	12	c.10 others(23): Show c.1044_*1045insCCGTCCATCCAT	BPIFB3	ENSG00000186190.8	transcript	ENST00000375494.4	protein_coding		803		chr20	TogoVar
BPIFB4_chr20_33074643_33116751	33074649	C C	CCCATCCA others(5): Show CCCATCCATCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0013 a0013	a0013c0013 a0013c0013	a0013c0013t0001 a0013c0013t0001	a0013c0013t0001g0034 a0013c0013t0001g0034	1	344	0.0029	12	c.-51 others(23): Show c.-5178_-5177insCCATCCATCCAT	BPIFB4	ENSG00000186191.9	transcript	ENST00000375483.4	protein_coding		4993		chr20	TogoVar
BPIFB4_chr20_33074643_33116751	33074649	C C	CCCGTCCA others(5): Show CCCGTCCATCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0130 a0010c0010t0001g0130	1	344	0.0029	12	c.-51 others(23): Show c.-5178_-5177insCCGTCCATCCAT	BPIFB4	ENSG00000186191.9	transcript	ENST00000375483.4	protein_coding		4993		chr20	TogoVar
BPIFB4_chr20_33074643_33116751	33087753	C C	CACACACA others(5): Show CACACACACACAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01106.hp2 HG01167.hp2 others(12): Show HG00642.hp1 HG01106.hp2 HG01167.hp2 HG01516.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02280.hp1 HG02976.hp2 HG03492.hp2 HG04199.hp2 NA18522.hp2 NA19066.hp2 NA20300.hp2 NA20905.hp1	a0001 a0002 a0010 others(3): Show a0001 a0002 a0010 a0014 a0021 a0024	a0001c0001 a0002c0002 a0010c0010 others(3): Show a0001c0001 a0002c0002 a0010c0010 a0014c0014 a0021c0024 a0024c0018	a0001c0001t0001 a0002c0002t0001 a0010c0010t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0010c0010t0001 a0014c0014t0001 a0021c0024t0001 a0024c0018t0001	a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 others(12): Show a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0002c0002t0001g0069 a0002c0002t0001g0070 a0010c0010t0001g0127 a0010c0010t0001g0133 a0014c0014t0001g0192 a0014c0014t0001g0193 a0021c0024t0001g0129 a0024c0018t0001g0120	15	344	0.0436	12	c.927 others(29): Show c.927-1212_927-1211insCACACACACAAA	BPIFB4	ENSG00000186191.9	transcript	ENST00000375483.4	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPIFB4_chr20_33074643_33116751	33107221	A A	AGAAGGAA others(5): Show AGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18941.hp2 NA18953.hp1 others(2): Show NA18940.hp1 NA18941.hp2 NA18953.hp1 NA19057.hp2 NA19080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0082 a0002c0002t0001g0091 a0002c0002t0001g0008 a0002c0002t0001g0082 a0002c0002t0001g0091	5	344	0.0145	12	c.174 others(29): Show c.1745-515_1745-504dupGGAAGGAAGGAA	BPIFB4	ENSG00000186191.9	transcript	ENST00000375483.4	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPIFB4_chr20_33074643_33116751	33108423	C C	CTATATAT others(5): Show CTATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01257.hp1 HG01496.hp2 HG01081.hp1 HG01257.hp1 HG01496.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0001 a0004c0004t0001 a0003c0003t0001 a0004c0004t0001	a0003c0003t0001g0162 a0003c0003t0001g0169 a0004c0004t0001g0041 a0003c0003t0001g0162 a0003c0003t0001g0169 a0004c0004t0001g0041	3	344	0.0087	12	c.182 others(29): Show c.1821+606_1821+617dupTATATATATATA	BPIFB4	ENSG00000186191.9	transcript	ENST00000375483.4	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPIFC_chr22_32408845_32469446	32423571	G G	GGTGTGTG others(5): Show GGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03471.hp2 HG01891.hp1 HG03471.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0003 a0001c0001t0001 a0003c0003t0003	a0001c0001t0001g0133 a0003c0003t0003g0053 a0001c0001t0001g0133 a0003c0003t0003g0053	2	422	0.0047	12	c.121 others(31): Show c.1218-4168_1218-4167insACACACACACAC	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32423577	G G	GGGGTGTG others(5): Show GGGGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01928.hp1 HG01934.hp1 others(16): Show HG01243.hp2 HG01928.hp1 HG01934.hp1 HG01981.hp2 HG02056.hp1 HG02273.hp2 HG02300.hp2 HG02717.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03195.hp1 HG03453.hp2 HG03490.hp2 HG03516.hp2 HG04228.hp2 NA18522.hp2 NA20805.hp2	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0008 a0012	a0001c0001 a0003c0003 a0005c0004 others(2): Show a0001c0001 a0003c0003 a0005c0004 a0008c0010 a0012c0013	a0001c0001t0002 a0003c0003t0002 a0005c0004t0002 others(2): Show a0001c0001t0002 a0003c0003t0002 a0005c0004t0002 a0008c0010t0005 a0012c0013t0002	a0001c0001t0002g0028 a0001c0001t0002g0074 a0001c0001t0002g0156 others(15): Show a0001c0001t0002g0028 a0001c0001t0002g0074 a0001c0001t0002g0156 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0346 a0001c0001t0002g0352 a0001c0001t0002g0389 a0003c0003t0002g0001 a0003c0003t0002g0006 a0003c0003t0002g0022 a0003c0003t0002g0131 a0003c0003t0002g0203 a0003c0003t0002g0303 a0005c0004t0002g0026 a0008c0010t0005g0010 a0012c0013t0002g0047	19	422	0.0450	12	c.121 others(31): Show c.1218-4174_1218-4173insACACACACACCC	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32423577	G G	GGTGTGTG others(5): Show GGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG01256.hp2 others(9): Show HG00099.hp2 HG00280.hp1 HG01256.hp2 HG01515.hp1 HG01517.hp2 HG02451.hp1 HG02602.hp1 HG03225.hp1 HG03579.hp2 HG03688.hp1 NA18906.hp2 NA19003.hp2	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0006c0006 a0008c0010 a0001c0001 a0006c0006 a0008c0010	a0001c0001t0002 a0006c0006t0001 a0008c0010t0002 a0001c0001t0002 a0006c0006t0001 a0008c0010t0002	a0001c0001t0002g0350 a0006c0006t0001g0004 a0006c0006t0001g0019 others(8): Show a0001c0001t0002g0350 a0006c0006t0001g0004 a0006c0006t0001g0019 a0006c0006t0001g0154 a0006c0006t0001g0191 a0006c0006t0001g0193 a0006c0006t0001g0194 a0006c0006t0001g0283 a0006c0006t0001g0288 a0008c0010t0002g0037 a0008c0010t0002g0111	12	422	0.0284	12	c.121 others(31): Show c.1218-4185_1218-4174dupACACACACACAC	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424574	T T	TTTCTTCT others(5): Show TTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03927.hp2 HG00735.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0338 a0001c0001t0002g0171 a0001c0001t0002g0338	2	422	0.0047	12	c.121 others(31): Show c.1218-5182_1218-5171dupGAAGAAGAAGAA	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424642	C C	CTCTTCTT others(5): Show CTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG01081.hp1 others(20): Show HG00323.hp1 HG00642.hp1 HG01081.hp1 HG01099.hp1 HG01175.hp1 HG01261.hp2 HG01928.hp2 HG02040.hp1 HG02083.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 NA18960.hp1 NA18962.hp1 NA18972.hp1 NA19003.hp1 NA19057.hp1 NA19066.hp2 NA19079.hp1 NA19080.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0004c0005t0001	a0001c0001t0001g0165 a0002c0002t0001g0005 a0002c0002t0001g0045 others(19): Show a0001c0001t0001g0165 a0002c0002t0001g0005 a0002c0002t0001g0045 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0098 a0002c0002t0001g0112 a0002c0002t0001g0114 a0002c0002t0001g0140 a0002c0002t0001g0246 a0002c0002t0001g0274 a0002c0002t0001g0296 a0002c0002t0001g0317 a0002c0002t0001g0319 a0002c0002t0001g0333 a0002c0002t0001g0336 a0002c0002t0001g0353 a0002c0002t0001g0390 a0002c0002t0001g0407 a0002c0002t0002g0117 a0002c0002t0002g0180 a0004c0005t0001g0170	23	422	0.0545	12	c.121 others(31): Show c.1218-5250_1218-5239dupAGAAGAAGAAGA	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424681	T T	TTCTTCTT others(5): Show TTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0064 a0002c0002t0002g0064	1	422	0.0024	12	c.121 others(31): Show c.1218-5289_1218-5278dupGGAAGAAGAAGA	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424696	T T	TTCTTCTT others(5): Show TTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0343 a0004c0005t0001g0343	1	422	0.0024	12	c.121 others(31): Show c.1218-5293_1218-5292insGGAAGAAGAAGA	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424741	C C	CTCTTCTT others(5): Show CTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02647.hp1 HG02922.hp2 HG01099.hp2 HG02647.hp1 HG02922.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0024 a0009c0019 a0001c0001 a0001c0024 a0009c0019	a0001c0001t0001 a0001c0024t0001 a0009c0019t0001 a0001c0001t0001 a0001c0024t0001 a0009c0019t0001	a0001c0001t0001g0009 a0001c0024t0001g0130 a0009c0019t0001g0127 a0001c0001t0001g0009 a0001c0024t0001g0130 a0009c0019t0001g0127	3	422	0.0071	12	c.121 others(31): Show c.1218-5338_1218-5337insAGAAGAAGAAGA	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32464646	A A	AACACACA others(5): Show AACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01993.hp1 HG04228.hp2 others(3): Show HG00741.hp1 HG01993.hp1 HG04228.hp2 NA18941.hp1 NA18974.hp2 NA19054.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0057 a0001c0001t0002g0074 a0002c0002t0001g0035 others(3): Show a0001c0001t0001g0057 a0001c0001t0002g0074 a0002c0002t0001g0035 a0002c0002t0001g0106 a0002c0002t0002g0064 a0002c0002t0002g0109	6	422	0.0142	12	c.-36 others(21): Show c.-362_-361insGTGTGTGTGTGT	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding		201		chr22	TogoVar
BPI_chr20_38299156_38342505	38302460	C C	CAATAATA others(5): Show CAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00733.hp2 HG00741.hp2 others(76): Show HG00642.hp2 HG00733.hp2 HG00741.hp2 HG01192.hp1 HG01255.hp1 HG01433.hp1 HG01496.hp1 HG01928.hp1 HG01934.hp2 HG02055.hp1 HG02071.hp2 HG02083.hp1 HG02148.hp2 HG02165.hp2 HG02280.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02630.hp1 HG02683.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03540.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA19002.hp2 NA19005.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp2 NA19068.hp2 NA19075.hp1 NA19076.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0024 a0035 a0036 a0038 a0044	a0001c0001 a0002c0002 a0003c0003 others(19): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0005c0018 a0005c0023 a0006c0005 a0009c0010 a0011c0013 a0011c0035 a0012c0012 a0013c0014 a0014c0016 a0015c0015 a0016c0019 a0017c0020 a0024c0030 a0035c0046 a0036c0047 a0038c0048 a0044c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001 a0004c0004t0002 a0005c0006t0002 a0005c0018t0001 a0005c0023t0002 a0006c0005t0001 a0006c0005t0002 a0006c0005t0003 a0009c0010t0001 a0009c0010t0002 a0011c0013t0001 a0011c0035t0004 a0012c0012t0001 a0012c0012t0002 a0013c0014t0001 a0014c0016t0001 a0015c0015t0001 a0016c0019t0001 a0017c0020t0002 a0024c0030t0001 a0035c0046t0002 a0036c0047t0001 a0038c0048t0002 a0044c0032t0003	a0001c0001t0001g0013 a0001c0001t0001g0248 a0001c0001t0001g0312 others(62): Show a0001c0001t0001g0013 a0001c0001t0001g0248 a0001c0001t0001g0312 a0001c0001t0001g0324 a0001c0001t0001g0328 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0014 a0001c0001t0002g0270 a0001c0001t0002g0294 a0001c0001t0002g0297 a0001c0001t0002g0301 a0001c0001t0002g0322 a0001c0001t0002g0325 a0001c0001t0002g0327 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0333 a0001c0001t0002g0343 a0001c0001t0003g0334 a0001c0001t0006g0289 a0002c0002t0001g0092 a0002c0002t0001g0107 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0003c0003t0001g0005 a0003c0003t0001g0011 a0003c0003t0001g0038 a0003c0003t0001g0042 a0003c0003t0001g0273 a0003c0003t0001g0274 a0003c0003t0001g0295 a0003c0003t0001g0344 a0003c0003t0002g0311 a0004c0004t0001g0007 a0004c0004t0001g0016 a0004c0004t0002g0151 a0005c0006t0002g0045 a0005c0006t0002g0134 a0005c0018t0001g0152 a0005c0023t0002g0287 a0006c0005t0001g0337 a0006c0005t0001g0339 a0006c0005t0002g0039 a0006c0005t0003g0283 a0009c0010t0001g0279 a0009c0010t0002g0278 a0011c0013t0001g0109 a0011c0035t0004g0111 a0012c0012t0001g0108 a0012c0012t0002g0105 a0012c0012t0002g0106 a0013c0014t0001g0147 a0013c0014t0001g0260 a0014c0016t0001g0276 a0015c0015t0001g0306 a0016c0019t0001g0012 a0017c0020t0002g0001 a0024c0030t0001g0232 a0035c0046t0002g0314 a0036c0047t0001g0300 a0038c0048t0002g0318 a0044c0032t0003g0305	79	426	0.1855	12	c.-17 others(23): Show c.-1764_-1763insAATAATAATAAT	BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding		1695		chr20	TogoVar
BPI_chr20_38299156_38342505	38302496	T T	TAATAATA others(5): Show TAATAATAATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02717.hp2 HG02818.hp1 others(2): Show HG01243.hp2 HG02717.hp2 HG02818.hp1 HG02886.hp1 HG03041.hp1	a0002 a0004 a0013 others(2): Show a0002 a0004 a0013 a0025 a0031	a0002c0002 a0004c0004 a0013c0040 others(2): Show a0002c0002 a0004c0004 a0013c0040 a0025c0052 a0031c0050	a0002c0002t0001 a0004c0004t0001 a0013c0040t0001 others(2): Show a0002c0002t0001 a0004c0004t0001 a0013c0040t0001 a0025c0052t0001 a0031c0050t0002	a0002c0002t0001g0169 a0004c0004t0001g0225 a0013c0040t0001g0263 others(2): Show a0002c0002t0001g0169 a0004c0004t0001g0225 a0013c0040t0001g0263 a0025c0052t0001g0302 a0031c0050t0002g0303	5	426	0.0117	12	c.-17 others(23): Show c.-1728_-1727insAATAATAATAAA	BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding		1659		chr20	TogoVar
BPI_chr20_38299156_38342505	38320661	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01074.hp1 HG01192.hp2 others(4): Show HG00735.hp1 HG01074.hp1 HG01192.hp2 HG02896.hp1 HG02976.hp1 HG03490.hp1 HG03834.hp2	a0002 a0006 a0007 others(1): Show a0002 a0006 a0007 a0034	a0002c0002 a0006c0005 a0006c0044 others(2): Show a0002c0002 a0006c0005 a0006c0044 a0007c0007 a0034c0057	a0002c0002t0001 a0006c0005t0001 a0006c0044t0002 others(3): Show a0002c0002t0001 a0006c0005t0001 a0006c0044t0002 a0007c0007t0001 a0007c0007t0002 a0034c0057t0001	a0002c0002t0001g0121 a0006c0005t0001g0181 a0006c0044t0002g0237 others(3): Show a0002c0002t0001g0121 a0006c0005t0001g0181 a0006c0044t0002g0237 a0007c0007t0001g0215 a0007c0007t0002g0034 a0034c0057t0001g0268	7	426	0.0164	12	c.756 others(27): Show c.756+413_756+424dupCACACACACACA	BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPI_chr20_38299156_38342505	38320661	T T	TACACACA others(5): Show TACACACACAGAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0216 a0004c0004t0001g0216	1	426	0.0024	12	c.756 others(27): Show c.756+396_756+397insGACACACACACA	BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPI_chr20_38299156_38342505	38329005	C C	CTAAATAA others(5): Show CTAAATAAATAGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00558.hp1 others(105): Show HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG01106.hp1 HG01255.hp2 HG01884.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02135.hp2 HG02155.hp1 HG02523.hp2 HG02559.hp2 HG02622.hp2 HG02723.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG03209.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03927.hp2 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19057.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19072.hp1 NA19074.hp1 NA19075.hp2 NA19077.hp2 NA19079.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA20905.hp2	a0002 a0003 a0008 others(18): Show a0002 a0003 a0008 a0010 a0011 a0013 a0014 a0015 a0016 a0019 a0021 a0025 a0026 a0029 a0032 a0036 a0039 a0040 a0041 a0042 a0045	a0002c0002 a0003c0003 a0008c0008 others(23): Show a0002c0002 a0003c0003 a0008c0008 a0008c0042 a0010c0009 a0011c0013 a0011c0027 a0013c0014 a0013c0043 a0014c0016 a0015c0015 a0016c0019 a0019c0037 a0019c0038 a0021c0022 a0025c0051 a0025c0052 a0026c0026 a0029c0045 a0032c0053 a0036c0047 a0039c0039 a0040c0056 a0041c0049 a0042c0034 a0045c0055	a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 others(28): Show a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 a0008c0008t0001 a0008c0008t0002 a0008c0042t0001 a0010c0009t0001 a0010c0009t0002 a0011c0013t0001 a0011c0013t0002 a0011c0027t0001 a0013c0014t0001 a0013c0043t0001 a0014c0016t0001 a0014c0016t0002 a0015c0015t0001 a0016c0019t0001 a0019c0037t0001 a0019c0038t0001 a0021c0022t0001 a0025c0051t0001 a0025c0052t0001 a0026c0026t0001 a0029c0045t0001 a0032c0053t0001 a0036c0047t0001 a0039c0039t0002 a0040c0056t0001 a0041c0049t0001 a0042c0034t0001 a0045c0055t0002	a0002c0002t0001g0092 a0003c0003t0001g0005 a0003c0003t0001g0011 others(86): Show a0002c0002t0001g0092 a0003c0003t0001g0005 a0003c0003t0001g0011 a0003c0003t0001g0012 a0003c0003t0001g0036 a0003c0003t0001g0038 a0003c0003t0001g0041 a0003c0003t0001g0042 a0003c0003t0001g0043 a0003c0003t0001g0044 a0003c0003t0001g0156 a0003c0003t0001g0160 a0003c0003t0001g0217 a0003c0003t0001g0218 a0003c0003t0001g0219 a0003c0003t0001g0220 a0003c0003t0001g0273 a0003c0003t0001g0274 a0003c0003t0001g0295 a0003c0003t0001g0296 a0003c0003t0001g0344 a0003c0003t0002g0223 a0003c0003t0002g0311 a0008c0008t0001g0023 a0008c0008t0001g0056 a0008c0008t0001g0058 a0008c0008t0001g0059 a0008c0008t0001g0065 a0008c0008t0001g0074 a0008c0008t0001g0075 a0008c0008t0001g0080 a0008c0008t0001g0087 a0008c0008t0001g0091 a0008c0008t0001g0131 a0008c0008t0001g0235 a0008c0008t0002g0082 a0008c0042t0001g0078 a0010c0009t0001g0027 a0010c0009t0001g0029 a0010c0009t0001g0102 a0010c0009t0001g0137 a0010c0009t0001g0139 a0010c0009t0001g0140 a0010c0009t0001g0141 a0010c0009t0001g0146 a0010c0009t0001g0229 a0010c0009t0001g0236 a0010c0009t0002g0135 a0011c0013t0001g0072 a0011c0013t0001g0093 a0011c0013t0001g0109 a0011c0013t0001g0187 a0011c0013t0002g0178 a0011c0013t0002g0188 a0011c0013t0002g0196 a0011c0027t0001g0123 a0011c0027t0001g0168 a0013c0014t0001g0143 a0013c0014t0001g0147 a0013c0014t0001g0260 a0013c0014t0001g0261 a0013c0043t0001g0144 a0014c0016t0001g0166 a0014c0016t0001g0276 a0014c0016t0002g0040 a0014c0016t0002g0280 a0015c0015t0001g0286 a0015c0015t0001g0306 a0015c0015t0001g0307 a0015c0015t0001g0308 a0015c0015t0001g0309 a0016c0019t0001g0012 a0016c0019t0001g0293 a0016c0019t0001g0299 a0019c0037t0001g0227 a0019c0038t0001g0224 a0021c0022t0001g0017 a0021c0022t0001g0054 a0025c0051t0001g0158 a0025c0052t0001g0302 a0026c0026t0001g0024 a0029c0045t0001g0285 a0032c0053t0001g0288 a0036c0047t0001g0300 a0039c0039t0002g0202 a0040c0056t0001g0209 a0041c0049t0001g0157 a0042c0034t0001g0149 a0045c0055t0002g0204	108	426	0.2535	12	c.122 others(31): Show c.1229+1360_1229+1361insGATAAATAAATA	BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPI_chr20_38299156_38342505	38339638	G G	GAAAAAAA others(5): Show GAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01978.hp1 HG02257.hp2 others(5): Show HG01099.hp2 HG01978.hp1 HG02257.hp2 HG02486.hp2 HG03516.hp1 HG03927.hp1 NA19030.hp1 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0002c0002 a0002c0011 others(2): Show a0001c0001 a0002c0002 a0002c0011 a0004c0004 a0006c0005	a0001c0001t0001 a0002c0002t0001 a0002c0011t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0011t0001 a0004c0004t0001 a0006c0005t0001	a0001c0001t0001g0222 a0001c0001t0001g0266 a0002c0002t0001g0128 others(5): Show a0001c0001t0001g0222 a0001c0001t0001g0266 a0002c0002t0001g0128 a0002c0011t0001g0193 a0004c0004t0001g0016 a0004c0004t0001g0096 a0004c0004t0001g0099 a0006c0005t0001g0214	8	426	0.0188	12	c.24 others(23): Show c.2454_*2455insAAAAAAAAAAAA	BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding		2134		chr20	TogoVar
BPNT1_chr1_220052482_220094788	220076701	T T	TTAATAAT others(5): Show TTAATAATAATAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02723.hp1 HG02976.hp1 others(5): Show HG00673.hp1 HG02723.hp1 HG02976.hp1 HG03471.hp2 HG03927.hp1 NA18969.hp1 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001	a0001c0001t0004g0200 a0001c0001t0004g0257 a0001c0001t0004g0259 others(4): Show a0001c0001t0004g0200 a0001c0001t0004g0257 a0001c0001t0004g0259 a0001c0001t0004g0313 a0001c0001t0007g0220 a0001c0002t0001g0009 a0001c0002t0001g0032	8	424	0.0189	12	c.121 others(29): Show c.121-2642_121-2631dupTTATTATTATTA	BPNT1	ENSG00000162813.18	transcript	ENST00000322067.12	protein_coding	2/8			chr1	TogoVar
BPNT1_chr1_220052482_220094788	220082085	T T	TATATATA others(5): Show TATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0243 a0001c0001t0004g0243	1	424	0.0024	12	c.-8- others(27): Show c.-8-2232_-8-2231insCTCTCTATATAT	BPNT1	ENSG00000162813.18	transcript	ENST00000322067.12	protein_coding	1/8			chr1	TogoVar
BPNT1_chr1_220052482_220094788	220090949	T T	TATATATA others(5): Show TATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG02572.hp1 NA18966.hp2 others(2): Show HG00673.hp1 HG02572.hp1 NA18966.hp2 NA18969.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0259 others(2): Show a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0318 a0001c0001t0005g0008	5	424	0.0118	12	c.-12 others(23): Show c.-1273_-1272insGTGTATATATAT	BPNT1	ENSG00000162813.18	transcript	ENST00000322067.12	protein_coding		1162		chr1	TogoVar
BPNT1_chr1_220052482_220094788	220090949	T T	TATATATA others(5): Show TATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG03098.hp2 HG02809.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0153 a0001c0001t0001g0158	2	424	0.0047	12	c.-12 others(23): Show c.-1273_-1272insGTATATATATAT	BPNT1	ENSG00000162813.18	transcript	ENST00000322067.12	protein_coding		1162		chr1	TogoVar
BPNT2_chr8_56952931_56998867	56980819	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02622.hp1 HG03239.hp2 others(12): Show HG01516.hp2 HG02622.hp1 HG03239.hp2 HG03688.hp1 HG04228.hp1 NA18747.hp2 NA18942.hp2 NA18947.hp2 NA18948.hp2 NA18984.hp2 NA19001.hp2 NA19003.hp1 NA19012.hp1 NA19080.hp1 NA19086.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0001c0001t0003 a0003c0008t0003 a0001c0001t0001 a0001c0001t0003 a0003c0008t0003	a0001c0001t0001g0103 a0001c0001t0003g0006 a0001c0001t0003g0242 others(6): Show a0001c0001t0001g0103 a0001c0001t0003g0006 a0001c0001t0003g0242 a0001c0001t0003g0249 a0001c0001t0003g0252 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0260 a0003c0008t0003g0253	15	356	0.0421	12	c.388 others(27): Show c.388-634_388-623dupGTGTGTGTGTGT	BPNT2	ENSG00000104331.9	transcript	ENST00000262644.9	protein_coding	1/4			chr8	TogoVar
BPNT2_chr8_56952931_56998867	56980819	T T	TATACACA others(5): Show TATACACACACAC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02109.hp2 HG02615.hp1 others(7): Show HG02080.hp2 HG02109.hp2 HG02615.hp1 HG02622.hp2 HG02723.hp2 HG02886.hp1 HG03225.hp2 NA18747.hp1 NA18969.hp2 NA19030.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0002 a0001c0001t0013 a0001c0001t0030 others(1): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0030 a0005c0005t0013	a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0205 others(7): Show a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0205 a0001c0001t0002g0219 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0013g0206 a0001c0001t0013g0213 a0001c0001t0030g0190 a0005c0005t0013g0191	10	356	0.0281	12	c.388 others(27): Show c.388-623_388-622insGTGTGTGTGTAT	BPNT2	ENSG00000104331.9	transcript	ENST00000262644.9	protein_coding	1/4			chr8	TogoVar
BPNT2_chr8_56952931_56998867	56980819	T T	TATATACA others(5): Show TATATACACACAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0180 a0001c0001t0019g0180	1	356	0.0028	12	c.388 others(27): Show c.388-623_388-622insGTGTGTGTATAT	BPNT2	ENSG00000104331.9	transcript	ENST00000262644.9	protein_coding	1/4			chr8	TogoVar
BPTF_chr17_67820503_67989378	67843754	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03195.hp2 NA19240.hp1 others(1): Show HG02257.hp1 HG03195.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0003 a0001c0009t0003 a0001c0003t0003 a0001c0009t0003	a0001c0003t0003g0084 a0001c0003t0003g0086 a0001c0003t0003g0094 others(1): Show a0001c0003t0003g0084 a0001c0003t0003g0086 a0001c0003t0003g0094 a0001c0009t0003g0083	4	274	0.0146	12	c.614 others(31): Show c.614-10169_614-10158dupTTTTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67873992	C C	CTGGATGG others(5): Show CTGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02965.hp1 others(4): Show HG01891.hp2 HG02145.hp1 HG02965.hp1 HG03139.hp1 HG03195.hp2 NA19240.hp1 NA20300.hp2	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0003 a0003c0035 a0003c0036 others(1): Show a0001c0003 a0003c0035 a0003c0036 a0011c0034	a0001c0003t0003 a0003c0035t0010 a0003c0036t0008 others(1): Show a0001c0003t0003 a0003c0035t0010 a0003c0036t0008 a0011c0034t0009	a0001c0003t0003g0084 a0001c0003t0003g0085 a0001c0003t0003g0086 others(4): Show a0001c0003t0003g0084 a0001c0003t0003g0085 a0001c0003t0003g0086 a0001c0003t0003g0091 a0003c0035t0010g0098 a0003c0036t0008g0097 a0011c0034t0009g0001	7	274	0.0256	12	c.166 others(29): Show c.1661-799_1661-788dupGGATGGATGGAT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67917131	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA20805.hp1 HG02735.hp2 NA20805.hp1	a0002 a0024 a0002 a0024	a0002c0002 a0024c0022 a0002c0002 a0024c0022	a0002c0002t0002 a0024c0022t0002 a0002c0002t0002 a0024c0022t0002	a0002c0002t0002g0181 a0024c0022t0002g0208 a0002c0002t0002g0181 a0024c0022t0002g0208	2	274	0.0073	12	c.530 others(31): Show c.5304-1575_5304-1564dupTTTTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	11/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67979169	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0003 a0003	a0003c0035 a0003c0035	a0003c0035t0010 a0003c0035t0010	a0003c0035t0010g0098 a0003c0035t0010g0098	1	274	0.0037	12	c.872 others(31): Show c.8727-3073_8727-3062dupAAAAAAAAAAAA	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67981866	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp1 HG01981.hp2 others(16): Show HG00438.hp2 HG00639.hp1 HG01981.hp2 HG02015.hp1 HG02293.hp1 HG02293.hp2 HG03516.hp1 HG04204.hp1 NA18956.hp1 NA18969.hp2 NA18973.hp2 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18998.hp1 NA19060.hp1 NA19079.hp1 NA19082.hp2 NA20805.hp1	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0007 a0009 a0024	a0001c0001 a0002c0002 a0006c0042 others(4): Show a0001c0001 a0002c0002 a0006c0042 a0006c0043 a0007c0010 a0009c0012 a0024c0022	a0001c0001t0001 a0002c0002t0002 a0002c0002t0007 others(5): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0007 a0006c0042t0002 a0006c0043t0002 a0007c0010t0002 a0009c0012t0002 a0024c0022t0002	a0001c0001t0001g0154 a0002c0002t0002g0191 a0002c0002t0002g0199 others(16): Show a0001c0001t0001g0154 a0002c0002t0002g0191 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0213 a0002c0002t0002g0215 a0002c0002t0002g0224 a0002c0002t0002g0228 a0002c0002t0002g0245 a0002c0002t0002g0253 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0261 a0002c0002t0007g0249 a0006c0042t0002g0218 a0006c0043t0002g0262 a0007c0010t0002g0013 a0009c0012t0002g0180 a0024c0022t0002g0208	19	274	0.0693	12	c.872 others(29): Show c.8727-359_8727-348dupACACACACACAC	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67984627	C C	CTTCTTTT others(5): Show CTTCTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0225 a0002c0002t0002g0225	1	274	0.0037	12	c.23 others(23): Show c.2339_*2340insTTCTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding		250		chr17	TogoVar
BPTF_chr17_67820503_67989378	67984630	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 NA18986.hp2 HG02965.hp2 NA18986.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0008 a0002c0002 a0005c0008	a0002c0002t0002 a0005c0008t0002 a0002c0002t0002 a0005c0008t0002	a0002c0002t0002g0213 a0005c0008t0002g0102 a0002c0002t0002g0213 a0005c0008t0002g0102	2	274	0.0073	12	c.23 others(23): Show c.2342_*2343insTTTTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding		253		chr17	TogoVar
BRAF_chr7_140714337_140929929	140732170	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0046	1	190	0.0053	12	c.240 others(31): Show c.2401+2435_2401+2446dupTTTTTTTTTTTT	BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	19/19			chr7	TogoVar
BRAF_chr7_140714337_140929929	140772272	T T	TACAACAA others(5): Show TACAACAACAACA	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA19070.hp2 HG02818.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0142 a0001c0001t0002g0091 a0001c0001t0001g0142 a0001c0001t0002g0091	2	190	0.0105	12	c.181 others(31): Show c.1814+4628_1814+4639dupTGTTGTTGTTGT	BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	14/19			chr7	TogoVar
BRAF_chr7_140714337_140929929	140798262	C C	CTTTTTTT others(5): Show CTTTTTTTTCCTT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0169 a0001c0001t0004g0169	1	190	0.0053	12	c.980 others(29): Show c.980+2099_980+2100insAAGGAAAAAAAA	BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	7/19			chr7	TogoVar
BRAF_chr7_140714337_140929929	140798272	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp2 others(108): Show HG00099.hp1 HG00140.hp1 HG00408.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03130.hp2 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18947.hp1 NA18947.hp2 NA18956.hp1 NA18959.hp2 NA18963.hp1 NA18963.hp2 NA18968.hp1 NA18986.hp1 NA18986.hp2 NA19001.hp2 NA19007.hp1 NA19062.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19084.hp1 NA19084.hp2 NA19240.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0016 a0001c0001t0018 a0001c0001t0027 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0012 a0001c0002t0022 a0001c0002t0026 a0001c0002t0028 a0001c0002t0029 a0001c0003t0002 a0001c0008t0002 a0003c0006t0003	a0001c0001t0001g0093 a0001c0001t0002g0087 a0001c0001t0002g0088 others(108): Show a0001c0001t0001g0093 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0006g0113 a0001c0001t0007g0136 a0001c0001t0009g0115 a0001c0001t0009g0150 a0001c0001t0011g0107 a0001c0001t0016g0151 a0001c0001t0018g0146 a0001c0001t0027g0158 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0017 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0086 a0001c0002t0001g0114 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0050 a0001c0002t0003g0012 a0001c0002t0003g0013 a0001c0002t0003g0014 a0001c0002t0003g0015 a0001c0002t0003g0016 a0001c0002t0003g0018 a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0025 a0001c0002t0003g0026 a0001c0002t0003g0028 a0001c0002t0003g0085 a0001c0002t0008g0022 a0001c0002t0008g0023 a0001c0002t0008g0024 a0001c0002t0008g0027 a0001c0002t0012g0041 a0001c0002t0022g0043 a0001c0002t0026g0059 a0001c0002t0028g0061 a0001c0002t0029g0071 a0001c0003t0002g0089 a0001c0003t0002g0096 a0001c0003t0002g0097 a0001c0008t0002g0102 a0003c0006t0003g0001	111	190	0.5842	12	c.980 others(29): Show c.980+2089_980+2090insAAAAAAAAAAAA	BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	7/19			chr7	TogoVar
BRAF_chr7_140714337_140929929	140812160	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA19240.hp2 NA18986.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0154 a0001c0001t0002g0087 a0001c0001t0002g0154	2	190	0.0105	12	c.505 others(29): Show c.505-3177_505-3166dupCACACACACACA	BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	3/19			chr7	TogoVar

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