Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
BRI3BP_chr12_124988645_125036231	125003987	ACACACAC others(6): Show ACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	410	0.0024	-13	c.214 others(30): Show c.214-8546_214-8534delCACACACACACAC	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	1/2			chr12	TogoVar
BRI3BP_chr12_124988645_125036231	125006252	CTCCTGTG others(6): Show CTCCTGTGTCTCCA	C C	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19068.hp2 NA19063.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0156 a0001c0001t0025g0119 a0001c0001t0001g0156 a0001c0001t0025g0119	2	410	0.0049	-13	c.214 others(30): Show c.214-6278_214-6266delTGTGTCTCCATCC	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRI3BP_chr12_124988645_125036231	125021235	CAGTGTTG others(6): Show CAGTGTTGGACTCT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03579.hp2 HG06807.hp1 HG02922.hp1 HG03579.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0081 a0001c0001t0034 a0001c0001t0081	a0001c0001t0034g0002 a0001c0001t0034g0057 a0001c0001t0081g0002 a0001c0001t0034g0002 a0001c0001t0034g0057 a0001c0001t0081g0002	3	410	0.0073	-13	c.317 others(30): Show c.317-3753_317-3741delTGTTGGACTCTAG	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRI3_chr7_98276686_98296545	98280244	AAAGATAT others(6): Show AAAGATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0122 a0001c0001t0003g0122	1	414	0.0024	-13	c.-15 others(24): Show c.-1551_-1539delAAGATATATATAT	BRI3	ENSG00000164713.10	transcript	ENST00000297290.4	protein_coding		1441		chr7	TogoVar
BRICD5_chr16_2204253_2215863	2214943	GCGCCAAT others(6): Show GCGCCAATCGGTGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	434	0.0023	-13	c.-41 others(24): Show c.-4123_-4111delTCACCGATTGGCG	BRICD5	ENSG00000182685.8	transcript	ENST00000328540.8	protein_coding		4081		chr16	TogoVar
BRINP1_chr9_119161629_119374435	119180441	CTGTTCTT others(6): Show CTGTTCTTTAGTTG	C C	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0165 a0001c0002t0001g0165	1	236	0.0042	-13	c.114 others(34): Show c.1146-12230_1146-12218delCAACTAAAGAACA	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	7/7			chr9	TogoVar
BRINP1_chr9_119161629_119374435	119303052	GGGAGACT others(6): Show GGGAGACTTATTTC	G G	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	236	0.0042	-13	c.218 others(32): Show c.218+10073_218+10085delGAAATAAGTCTCC	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	2/7			chr9	TogoVar
BRINP1_chr9_119161629_119374435	119373722	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01496.hp1 HG01496.hp2 HG00639.hp2 HG01496.hp1 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0001 a0001c0001t0003 a0001c0003t0001	a0001c0001t0003g0001 a0001c0003t0001g0182 a0001c0003t0001g0207 a0001c0001t0003g0001 a0001c0003t0001g0182 a0001c0003t0001g0207	3	236	0.0127	-13	c.-47 others(24): Show c.-4730_-4718delTTTTTTTTTTTTT	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding		4288		chr9	TogoVar
BRINP3_chr1_190092658_190482864	190203749	AAATATAT others(6): Show AAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	240	0.0042	-13	c.961 others(32): Show c.961+22320_961+22332delATATATATATATT	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	6/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190405480	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	240	0.0042	-13	c.236 others(32): Show c.236+49162_236+49174delGTTTTTTTTTTTT	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	2/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190453203	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02809.hp1 HG02897.hp1 others(4): Show HG01891.hp2 HG02809.hp1 HG02897.hp1 HG06807.hp1 NA18963.hp1 NA19054.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 others(4): Show a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239	7	240	0.0292	-13	c.236 others(30): Show c.236+1439_236+1451delAAAAAAAAAAAAA	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	2/7			chr1	TogoVar
BRIP1_chr17_61674139_61868528	61695420	TTGTTCTC others(6): Show TTGTTCTCCTAGTA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp1 HG02615.hp2 others(5): Show HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02896.hp2 HG02970.hp1 HG03041.hp2 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0050 a0001c0001t0051 others(2): Show a0001c0001t0015 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053	a0001c0001t0015g0151 a0001c0001t0015g0251 a0001c0001t0015g0255 others(5): Show a0001c0001t0015g0151 a0001c0001t0015g0251 a0001c0001t0015g0255 a0001c0001t0015g0261 a0001c0001t0050g0265 a0001c0001t0051g0250 a0001c0001t0052g0256 a0001c0001t0053g0262	8	266	0.0301	-13	c.249 others(32): Show c.2493-1921_2493-1909delTACTAGGAGAACA	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	17/19			chr17	TogoVar
BRIP1_chr17_61674139_61868528	61765372	GTATATAT others(6): Show GTATATATTATATA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0229 a0001c0001t0004g0229	1	266	0.0038	-13	c.209 others(34): Show c.2097+11016_2097+11028delTATATAATATATA	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	14/19			chr17	TogoVar
BRIP1_chr17_61674139_61868528	61765406	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0174 a0001c0001t0004g0174	1	266	0.0038	-13	c.209 others(34): Show c.2097+10982_2097+10994delTATATATATATAT	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	14/19			chr17	TogoVar
BRIP1_chr17_61674139_61868528	61765411	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02683.hp2 HG02300.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0011 a0001c0001t0008 a0001c0001t0011	a0001c0001t0008g0149 a0001c0001t0011g0095 a0001c0001t0008g0149 a0001c0001t0011g0095	2	266	0.0075	-13	c.209 others(34): Show c.2097+10977_2097+10989delATATATATATATA	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	14/19			chr17	TogoVar
BRIP1_chr17_61674139_61868528	61765417	ATATATAT others(6): Show ATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0209 a0001c0001t0055g0209	1	266	0.0038	-13	c.209 others(34): Show c.2097+10971_2097+10983delAAAAAAATATATA	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	14/19			chr17	TogoVar
BROX_chr1_222707564_222740187	222733057	CTTTTTCT others(6): Show CTTTTTCTTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0003 a0001c0002t0029g0003	1	386	0.0026	-13	c.36 others(22): Show c.362_*374delCTTTTTTTTTTTT	BROX	ENSG00000162819.12	transcript	ENST00000340934.10	protein_coding	13/13	362	INFO_REALIGN_3_PRIME	chr1	TogoVar
BRPF1_chr3_9726735_9753015	9727514	CAGGGACC others(6): Show CAGGGACCTAACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02145.hp2 HG02109.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0057 a0001c0001t0001g0065	2	426	0.0047	-13	c.-46 others(24): Show c.-4634_-4622delAGGGACCTAACAT	BRPF1	ENSG00000156983.17	transcript	ENST00000383829.7	protein_coding		4220		chr3	TogoVar
BRSK2_chr11_1384934_1467689	1389806	GGCTCGGC others(6): Show GGCTCGGCTCGGCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01943.hp2 HG02145.hp1 others(5): Show HG01243.hp1 HG01943.hp2 HG02145.hp1 HG02647.hp1 HG02809.hp2 HG03041.hp1 HG03225.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0043 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0043 a0001c0006t0001	a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 others(5): Show a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0004g0051 a0001c0001t0043g0050 a0001c0006t0001g0047	8	360	0.0222	-13	c.-47 others(22): Show c.-478_-466delGCTCGGCTCGGCT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding		127		chr11	TogoVar
BRSK2_chr11_1384934_1467689	1393921	ATGGAGAT others(6): Show ATGGAGATGGGTCC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(154): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 NA18939.hp1 NA18944.hp2 NA18945.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19060.hp2 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19083.hp1 NA19088.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0003 a0001c0015 others(6): Show a0001c0001 a0001c0003 a0001c0015 a0002c0002 a0002c0005 a0002c0007 a0002c0008 a0003c0014 a0006c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(51): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0001t0021 a0001c0001t0024 a0001c0001t0032 a0001c0001t0036 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0067 a0001c0001t0068 a0001c0001t0070 a0001c0001t0074 a0001c0001t0075 a0001c0001t0077 a0001c0001t0078 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0015t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 a0002c0002t0008 a0002c0002t0010 a0002c0002t0012 a0002c0002t0016 a0002c0002t0017 a0002c0002t0022 a0002c0002t0023 a0002c0002t0033 a0002c0002t0035 a0002c0002t0038 a0002c0002t0039 a0002c0002t0040 a0002c0002t0054 a0002c0002t0058 a0002c0002t0066 a0002c0002t0069 a0002c0002t0071 a0002c0002t0072 a0002c0002t0073 a0002c0005t0005 a0002c0007t0010 a0002c0008t0002 a0002c0008t0005 a0003c0014t0002 a0006c0012t0037	a0001c0001t0001g0044 a0001c0001t0001g0312 a0001c0001t0001g0313 others(149): Show a0001c0001t0001g0044 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0317 a0001c0001t0003g0002 a0001c0001t0003g0045 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0203 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0222 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0232 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0241 a0001c0001t0003g0263 a0001c0001t0003g0265 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0280 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0004g0314 a0001c0001t0004g0316 a0001c0001t0006g0214 a0001c0001t0006g0215 a0001c0001t0006g0218 a0001c0001t0006g0225 a0001c0001t0006g0226 a0001c0001t0006g0229 a0001c0001t0006g0247 a0001c0001t0006g0248 a0001c0001t0006g0251 a0001c0001t0006g0282 a0001c0001t0011g0295 a0001c0001t0011g0303 a0001c0001t0011g0307 a0001c0001t0011g0310 a0001c0001t0011g0352 a0001c0001t0013g0311 a0001c0001t0021g0206 a0001c0001t0021g0221 a0001c0001t0021g0242 a0001c0001t0024g0292 a0001c0001t0024g0299 a0001c0001t0032g0195 a0001c0001t0032g0209 a0001c0001t0036g0300 a0001c0001t0061g0266 a0001c0001t0062g0257 a0001c0001t0063g0253 a0001c0001t0064g0261 a0001c0001t0065g0256 a0001c0001t0067g0252 a0001c0001t0068g0243 a0001c0001t0070g0210 a0001c0001t0074g0213 a0001c0001t0075g0202 a0001c0001t0077g0324 a0001c0001t0078g0205 a0001c0003t0001g0115 a0001c0003t0003g0291 a0001c0003t0004g0290 a0001c0015t0001g0315 a0002c0002t0002g0318 a0002c0002t0002g0320 a0002c0002t0002g0321 a0002c0002t0002g0323 a0002c0002t0005g0005 a0002c0002t0005g0198 a0002c0002t0005g0211 a0002c0002t0005g0212 a0002c0002t0005g0216 a0002c0002t0005g0224 a0002c0002t0005g0250 a0002c0002t0005g0258 a0002c0002t0005g0259 a0002c0002t0005g0260 a0002c0002t0005g0262 a0002c0002t0005g0264 a0002c0002t0005g0269 a0002c0002t0005g0274 a0002c0002t0005g0276 a0002c0002t0005g0277 a0002c0002t0005g0281 a0002c0002t0005g0283 a0002c0002t0007g0294 a0002c0002t0007g0302 a0002c0002t0007g0304 a0002c0002t0007g0306 a0002c0002t0007g0308 a0002c0002t0007g0309 a0002c0002t0007g0345 a0002c0002t0007g0346 a0002c0002t0007g0350 a0002c0002t0007g0351 a0002c0002t0008g0116 a0002c0002t0010g0004 a0002c0002t0010g0233 a0002c0002t0010g0246 a0002c0002t0010g0275 a0002c0002t0012g0006 a0002c0002t0012g0347 a0002c0002t0012g0348 a0002c0002t0012g0349 a0002c0002t0016g0207 a0002c0002t0016g0208 a0002c0002t0016g0240 a0002c0002t0016g0284 a0002c0002t0017g0301 a0002c0002t0017g0305 a0002c0002t0017g0353 a0002c0002t0022g0003 a0002c0002t0022g0204 a0002c0002t0023g0223 a0002c0002t0023g0254 a0002c0002t0023g0255 a0002c0002t0033g0279 a0002c0002t0033g0286 a0002c0002t0035g0296 a0002c0002t0038g0297 a0002c0002t0039g0344 a0002c0002t0040g0298 a0002c0002t0054g0322 a0002c0002t0058g0325 a0002c0002t0066g0285 a0002c0002t0069g0231 a0002c0002t0071g0249 a0002c0002t0072g0273 a0002c0002t0073g0217 a0002c0005t0005g0289 a0002c0007t0010g0244 a0002c0007t0010g0245 a0002c0008t0002g0326 a0002c0008t0005g0278 a0003c0014t0002g0319 a0006c0012t0037g0293	157	360	0.4361	-13	c.91+ others(28): Show c.91+3596_91+3608delTCCTGGAGATGGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1393973	CTGGAGAT others(6): Show CTGGAGATGGGCCA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01943.hp2 HG02145.hp1 others(6): Show HG01243.hp1 HG01943.hp2 HG02145.hp1 HG02647.hp1 HG02809.hp2 HG03041.hp1 HG03225.hp2 HG03486.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0043 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0043 a0001c0006t0001	a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 others(6): Show a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0113 a0001c0001t0004g0051 a0001c0001t0043g0050 a0001c0006t0001g0047	9	360	0.0250	-13	c.91+ others(28): Show c.91+3609_91+3621delCCATGGAGATGGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1394027	ATGGAGAT others(6): Show ATGGAGATGGGTCC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0049 a0002c0002t0049	a0002c0002t0049g0117 a0002c0002t0049g0117	1	360	0.0028	-13	c.91+ others(28): Show c.91+3689_91+3701delTCCTGGAGATGGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1394106	ATGGAGAT others(6): Show ATGGAGATGGGTCC	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	360	0.0028	-13	c.91+ others(28): Show c.91+3755_91+3767delTCCTGGAGATGGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1394238	ATGGAGAT others(6): Show ATGGAGATGGGTCC	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01433.hp1 HG01943.hp1 others(18): Show HG01346.hp2 HG01433.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG02080.hp2 HG02129.hp2 HG02630.hp2 HG02717.hp1 HG02965.hp2 HG03130.hp1 HG03195.hp2 HG03471.hp2 HG03834.hp1 HG03834.hp2 HG06807.hp1 NA19012.hp1 NA19067.hp1 NA19068.hp2 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0015 others(4): Show a0001c0001 a0001c0003 a0001c0015 a0002c0002 a0002c0005 a0002c0008 a0003c0014	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0001c0001t0077 a0001c0003t0004 a0001c0015t0001 a0002c0002t0002 a0002c0002t0054 a0002c0005t0034 a0002c0008t0002 a0003c0014t0002	a0001c0001t0001g0044 a0001c0001t0001g0312 a0001c0001t0001g0313 others(18): Show a0001c0001t0001g0044 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0317 a0001c0001t0004g0314 a0001c0001t0004g0316 a0001c0001t0013g0311 a0001c0001t0077g0324 a0001c0003t0004g0290 a0001c0015t0001g0315 a0002c0002t0002g0013 a0002c0002t0002g0119 a0002c0002t0002g0318 a0002c0002t0002g0320 a0002c0002t0002g0321 a0002c0002t0002g0323 a0002c0002t0054g0322 a0002c0005t0034g0055 a0002c0005t0034g0056 a0002c0008t0002g0326 a0003c0014t0002g0319	21	360	0.0583	-13	c.91+ others(28): Show c.91+3900_91+3912delTCCTGGAGATGGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1394331	ATGGAGAT others(6): Show ATGGAGATGGGTCC	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01257.hp1 HG01258.hp1 HG00673.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0028 a0001c0003t0001 a0001c0001t0028 a0001c0003t0001	a0001c0001t0028g0332 a0001c0001t0028g0333 a0001c0003t0001g0331 a0001c0001t0028g0332 a0001c0001t0028g0333 a0001c0003t0001g0331	3	360	0.0083	-13	c.91+ others(28): Show c.91+3980_91+3992delTCCTGGAGATGGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1394355	TCCTGGAG others(6): Show TCCTGGAGATGGGC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02976.hp1 HG03195.hp1 others(1): Show HG02257.hp1 HG02976.hp1 HG03195.hp1 HG04204.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0045 a0001c0003t0014 a0002c0002t0015 a0001c0001t0045 a0001c0003t0014 a0002c0002t0015	a0001c0001t0045g0040 a0001c0003t0014g0037 a0002c0002t0015g0027 others(1): Show a0001c0001t0045g0040 a0001c0003t0014g0037 a0002c0002t0015g0027 a0002c0002t0015g0028	4	360	0.0111	-13	c.91+ others(28): Show c.91+3982_91+3994delCTGGAGATGGGCC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1394357	CTGGAGAT others(6): Show CTGGAGATGGGCCA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0330 a0002c0002t0015g0330	1	360	0.0028	-13	c.91+ others(28): Show c.91+4006_91+4018delCCATGGAGATGGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1394541	ATGGAGAT others(6): Show ATGGAGATGGGTCC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01099.hp2 HG01515.hp1 others(3): Show HG01081.hp1 HG01099.hp2 HG01515.hp1 HG02683.hp1 HG03239.hp1 HG03831.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0002 a0002c0002t0030 a0001c0001t0004 a0002c0002t0002 a0002c0002t0030	a0001c0001t0004g0172 a0001c0001t0004g0173 a0002c0002t0002g0169 others(3): Show a0001c0001t0004g0172 a0001c0001t0004g0173 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0030g0171 a0002c0002t0030g0174	6	360	0.0167	-13	c.91+ others(28): Show c.91+4190_91+4202delTCCTGGAGATGGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1394567	CTGGAGAT others(6): Show CTGGAGATGGGCCA	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0291 a0001c0003t0003g0291	1	360	0.0028	-13	c.91+ others(28): Show c.91+4203_91+4215delCCATGGAGATGGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1394580	ATGGAGAT others(6): Show ATGGAGATGGGTCC	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02132.hp1 HG02027.hp1 HG02132.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0258 a0002c0002t0005g0259 a0002c0002t0005g0258 a0002c0002t0005g0259	2	360	0.0056	-13	c.91+ others(28): Show c.91+4216_91+4228delTCCTGGAGATGGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1394670	CCCTGGAG others(6): Show CCCTGGAGATGGGT	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02145.hp1 NA21309.hp2 HG01943.hp2 HG02145.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0024g0292 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0024g0292	3	360	0.0083	-13	c.91+ others(28): Show c.91+4324_91+4336delTGGAGATGGGTCC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1394817	ATGGAGAT others(6): Show ATGGAGATGGGTCC	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03492.hp2 HG04228.hp1 HG02698.hp1 HG03492.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062	3	360	0.0083	-13	c.91+ others(28): Show c.91+4466_91+4478delTCCTGGAGATGGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1394909	ATGGAGAT others(6): Show ATGGAGATGGGTCC	A A	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0120 a0001c0001t0009g0120	1	360	0.0028	-13	c.91+ others(28): Show c.91+4571_91+4583delTCCTGGAGATGGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRWD1_chr21_39180482_39318632	39203434	GGTTCTTT others(6): Show GGTTCTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0028 a0003c0014t0028	a0003c0014t0028g0016 a0003c0014t0028g0016	1	338	0.0030	-13	c.436 others(30): Show c.4365-902_4365-890delAAAAAAAAAGAAC	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	37/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39217062	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	338	0.0030	-13	c.365 others(32): Show c.3659+1077_3659+1089delTATATATATATAT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	31/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39217068	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0254 a0001c0001t0015g0254	1	338	0.0030	-13	c.365 others(32): Show c.3659+1071_3659+1083delTATATATATATAT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	31/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39217070	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0274 a0001c0001t0004g0274	1	338	0.0030	-13	c.365 others(32): Show c.3659+1069_3659+1081delTATATATATATAT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	31/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39241473	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG01070.hp2 others(57): Show HG00280.hp2 HG00642.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01169.hp2 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp2 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG01981.hp2 HG02015.hp2 HG02109.hp1 HG02132.hp2 HG02155.hp2 HG02293.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03704.hp2 HG03942.hp1 HG04115.hp1 NA18943.hp1 NA18945.hp1 NA18946.hp2 NA18952.hp1 NA18953.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18968.hp1 NA18969.hp1 NA18981.hp2 NA18983.hp2 NA18994.hp1 NA19007.hp1 NA19009.hp2 NA19054.hp2 NA19060.hp1 NA19063.hp1 NA19070.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0012	a0001c0001 a0002c0002 a0003c0004 others(6): Show a0001c0001 a0002c0002 a0003c0004 a0003c0005 a0003c0014 a0004c0003 a0004c0006 a0004c0019 a0012c0012	a0001c0001t0002 a0002c0002t0001 a0003c0004t0005 others(15): Show a0001c0001t0002 a0002c0002t0001 a0003c0004t0005 a0003c0004t0010 a0003c0004t0014 a0003c0004t0030 a0003c0004t0032 a0003c0005t0043 a0003c0014t0028 a0004c0003t0006 a0004c0003t0052 a0004c0003t0055 a0004c0003t0057 a0004c0006t0006 a0004c0006t0042 a0004c0006t0060 a0004c0019t0006 a0012c0012t0059	a0001c0001t0002g0043 a0001c0001t0002g0058 a0002c0002t0001g0200 others(57): Show a0001c0001t0002g0043 a0001c0001t0002g0058 a0002c0002t0001g0200 a0002c0002t0001g0243 a0003c0004t0005g0091 a0003c0004t0005g0097 a0003c0004t0005g0098 a0003c0004t0005g0118 a0003c0004t0005g0119 a0003c0004t0005g0120 a0003c0004t0005g0121 a0003c0004t0005g0122 a0003c0004t0005g0124 a0003c0004t0005g0125 a0003c0004t0005g0126 a0003c0004t0005g0127 a0003c0004t0005g0128 a0003c0004t0005g0129 a0003c0004t0005g0130 a0003c0004t0005g0132 a0003c0004t0005g0133 a0003c0004t0005g0134 a0003c0004t0005g0136 a0003c0004t0005g0137 a0003c0004t0010g0087 a0003c0004t0010g0088 a0003c0004t0010g0089 a0003c0004t0010g0092 a0003c0004t0010g0093 a0003c0004t0010g0095 a0003c0004t0014g0328 a0003c0004t0014g0329 a0003c0004t0014g0330 a0003c0004t0014g0331 a0003c0004t0030g0131 a0003c0004t0032g0099 a0003c0005t0043g0179 a0003c0014t0028g0016 a0004c0003t0006g0143 a0004c0003t0006g0144 a0004c0003t0006g0148 a0004c0003t0006g0153 a0004c0003t0006g0154 a0004c0003t0006g0155 a0004c0003t0006g0157 a0004c0003t0006g0158 a0004c0003t0006g0164 a0004c0003t0006g0165 a0004c0003t0006g0168 a0004c0003t0006g0170 a0004c0003t0052g0145 a0004c0003t0055g0141 a0004c0003t0057g0151 a0004c0006t0006g0146 a0004c0006t0006g0152 a0004c0006t0006g0166 a0004c0006t0042g0142 a0004c0006t0060g0150 a0004c0019t0006g0167 a0012c0012t0059g0161	60	338	0.1775	-13	c.248 others(32): Show c.2482-2913_2482-2901delTTTTTTTTTTTTT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	21/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39248641	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02027.hp2 HG02056.hp2 others(5): Show HG01496.hp2 HG02027.hp2 HG02056.hp2 HG02083.hp1 HG02572.hp1 NA18612.hp1 NA18994.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0004 a0001c0001t0062 a0001c0008t0003 a0001c0001t0004 a0001c0001t0062 a0001c0008t0003	a0001c0001t0004g0266 a0001c0001t0004g0269 a0001c0001t0004g0278 others(5): Show a0001c0001t0004g0266 a0001c0001t0004g0269 a0001c0001t0004g0278 a0001c0001t0004g0285 a0001c0001t0004g0286 a0001c0001t0062g0280 a0001c0008t0003g0300 a0001c0008t0003g0327	8	338	0.0237	-13	c.235 others(30): Show c.2350-822_2350-810delTTTTTTTTTTTTT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	20/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39309756	CGGAGCTT others(6): Show CGGAGCTTGCAGTG	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0015 a0015	a0015c0018 a0015c0018	a0015c0018t0051 a0015c0018t0051	a0015c0018t0051g0178 a0015c0018t0051g0178	1	338	0.0030	-13	c.198 others(30): Show c.198+3072_198+3084delCACTGCAAGCTCC	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	4/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39312986	GGCGGGCG others(6): Show GGCGGGCGGGGGGC	G G	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0003 a0001c0001t0009g0003	1	338	0.0030	-13	c.138 others(26): Show c.138+73_138+85delGCCCCCCGCCCGC	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	3/40			chr21	TogoVar
BSDC1_chr1_32359633_32399441	32360895	TGATAGAT others(6): Show TGATAGATAGATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0032 a0001c0001t0008g0032	1	170	0.0059	-13	c.57 others(24): Show c.5714_*5726delTTATCTATCTATC	BSDC1	ENSG00000160058.19	transcript	ENST00000455895.7	protein_coding		3737		chr1	TogoVar
BSPRY_chr9_113344541_113376222	113363876	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA19088.hp1 NA18970.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0236 a0001c0001t0005g0231 a0001c0001t0001g0236 a0001c0001t0005g0231	2	448	0.0045	-13	c.557 others(30): Show c.557+1501_557+1513delAAAAAAAAAAAAA	BSPRY	ENSG00000119411.11	transcript	ENST00000374183.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
BST1_chr4_15698065_15737787	15737426	TCACCTCT others(6): Show TCACCTCTCTTGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0202 a0003c0003t0002g0202	1	442	0.0023	-13	c.55 others(24): Show c.5582_*5594delCACCTCTCTTGGC	BST1	ENSG00000109743.11	transcript	ENST00000265016.9	protein_coding		4640		chr4	TogoVar
BSX_chr11_122972570_122986834	122983554	AAAGAAAA others(6): Show AAAGAAAAGAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	422	0.0024	-13	c.-18 others(24): Show c.-1896_-1884delCTTTTCTTTTCTT	BSX	ENSG00000188909.5	transcript	ENST00000343035.3	protein_coding		1721		chr11	TogoVar
BTAF1_chr10_91918770_92036437	92002009	CACACACT others(6): Show CACACACTCCATAT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03516.hp1 NA18906.hp2 HG02280.hp2 HG03516.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156	3	330	0.0091	-13	c.366 others(32): Show c.3660+4260_3660+4272delCACACTCCATATA	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	25/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTBD2_chr19_1980448_2020714	2015005	AGGGTGCA others(6): Show AGGGTGCAGGCCCC	A A	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0009 a0009	a0009c0030 a0009c0030	a0009c0030t0002 a0009c0030t0002	a0009c0030t0002g0114 a0009c0030t0002g0114	1	364	0.0028	-13	c.407 others(28): Show c.407+279_407+291delGGGGCCTGCACCC	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding	1/8			chr19	TogoVar
BTBD2_chr19_1980448_2020714	2018320	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0143 a0003c0006t0001g0143	1	364	0.0028	-13	c.-26 others(24): Show c.-2630_-2618delAAAAAAAAAAAAA	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding		2607		chr19	TogoVar
BTBD7_chr14_93232550_93338036	93300703	TTTGTGTG others(6): Show TTTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0351 a0001c0001t0002g0351	1	375	0.0027	-13	c.-10 others(32): Show c.-106-4559_-106-4547delCACACACACACAA	BTBD7	ENSG00000011114.15	transcript	ENST00000334746.10	protein_coding	1/10			chr14	TogoVar
BTBD7_chr14_93232550_93338036	93309357	AGGCCAAG others(6): Show AGGCCAAGGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	375	0.0027	-13	c.-10 others(34): Show c.-106-13213_-106-13201delACACACCTTGGCC	BTBD7	ENSG00000011114.15	transcript	ENST00000334746.10	protein_coding	1/10			chr14	TogoVar

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