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
BCO1_chr16_81233689_81296142	81235184	A A	ACATATAT others(17): Show ACATATATATAAATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0029 a0002c0006t0001g0029	1	400	0.0025	24	c.-37 others(35): Show c.-3725_-3724insCATATATATAAATATATATATATG	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3504		chr16	TogoVar
BCO1_chr16_81233689_81296142	81235193	T T	TAAATAAA others(17): Show TAAATAAATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0170 a0001c0002t0001g0170	1	386	0.0026	24	c.-37 others(35): Show c.-3716_-3715insAAATAAATATATATATATATATAA	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3495		chr16	TogoVar
BCO1_chr16_81233689_81296142	81257606	A A	AGGCAAAC others(17): Show AGGCAAACGCCTGTAATCCCAGCAC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0167 a0001c0002t0001g0167	1	400	0.0025	24	c.194 others(41): Show c.194-2069_194-2046dupGGCAAACGCCTGTAATCCCAGCAC	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
BCORL1_chrX_129977635_130063071	130043746	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	148	0.0068	24	c.484 others(43): Show c.4840+4480_4840+4503dupATATATATATATATATATATATAT	BCORL1	ENSG00000085185.16	transcript	ENST00000540052.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chrX	TogoVar
BCOR_chrX_40046251_40102958	40046528	A A	ATATATAT others(17): Show ATATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	247	0.0040	24	c.55 others(35): Show c.5580_*5581insCATATATATATATATATATATATA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4722		chrX	TogoVar
BCOR_chrX_40046251_40102958	40046552	A A	ATATATAT others(17): Show ATATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0177 a0001c0005t0001g0177	1	238	0.0042	24	c.55 others(35): Show c.5556_*5557insCATATATATATATATATATATATA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4698		chrX	TogoVar
BCOR_chrX_40046251_40102958	40046578	A A	ATATATAT others(17): Show ATATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	233	0.0043	24	c.55 others(35): Show c.5530_*5531insCATATATATATATATATATATATA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4672		chrX	TogoVar
BDH1_chr3_197504783_197560968	197510599	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03130.hp1 HG04228.hp2 NA18964.hp2 others(1): Show HG03130.hp1 HG04228.hp2 NA18964.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0055 a0001c0001t0001g0145 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0055 a0001c0001t0001g0145 a0001c0001t0003g0031	4	184	0.0217	24	c.12 others(35): Show c.1272_*1295dupACACACACACACACACACACACAC	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1295		chr3	TogoVar
BDH2_chr4_103072592_103104834	103102328	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0021 a0001c0001t0006g0021	1	307	0.0033	24	c.-25 others(35): Show c.-2567_-2566insATATATATATATATATATATATAT	BDH2	ENSG00000164039.15	transcript	ENST00000296424.9	protein_coding		2495		chr4	TogoVar
BEAN1_chr16_66422295_66487833	66426826	T T	TCCCTACA others(17): Show TCCCTACACACGCCTGTGTGTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 NA20129.hp2 HG06807.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0285 a0001c0001t0003g0256 a0001c0001t0001g0285 a0001c0001t0003g0256	2	296	0.0068	24	c.-68 others(33): Show c.-688_-687insCCCTACACACGCCTGTGTGTCCTC	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding		468		chr16	TogoVar
BEAN1_chr16_66422295_66487833	66474544	A A	AAGAGGGA others(17): Show AAGAGGGAGGGAGAGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18612.hp1 HG02129.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0236 a0001c0001t0001g0202 a0001c0001t0001g0236	2	288	0.0069	24	c.290 others(41): Show c.290-2991_290-2968dupAGAGGGAGGGAGAGAGGGAGGGAG	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BEAN1_chr16_66422295_66487833	66474545	A A	AGAGGGAG others(17): Show AGAGGGAGGGAGAGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	296	0.0034	24	c.290 others(41): Show c.290-2992_290-2991insGGAGGGAGGGAGAGAGGGAGGGAG	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BEAN1_chr16_66422295_66487833	66474574	G G	GAGGGAGG others(17): Show GAGGGAGGGAGGGAGGAAGGGAGGA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0275 a0001c0001t0003g0275	1	296	0.0034	24	c.290 others(41): Show c.290-2980_290-2979insGGAGGGAGGAAGGGAGGAAGGGAG	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BEAN1_chr16_66422295_66487833	66474618	A A	AAGGAAGG others(17): Show AAGGAAGGGAGGAAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03453.hp2 NA18947.hp1 HG03209.hp1 HG03453.hp2 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0051 a0001c0001t0008g0006 a0001c0001t0001g0051 a0001c0001t0008g0006	3	34	0.0882	24	c.290 others(41): Show c.290-2939_290-2938insAAGGGAGGAAGGGAGGGAGGGAGG	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BEAN1_chr16_66422295_66487833	66474622	G G	GAGGAAGG others(17): Show GAGGAAGGAAGGGAGGAAGGGAGGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG00673.hp2 others(11): Show HG00280.hp2 HG00544.hp2 HG00673.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG02165.hp2 HG02257.hp2 HG03704.hp2 HG04204.hp2 NA18747.hp2 NA18953.hp1 NA18964.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0157 a0001c0001t0002g0018 a0001c0001t0002g0045 others(11): Show a0001c0001t0001g0157 a0001c0001t0002g0018 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0055 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0070 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0215 a0001c0001t0002g0263 a0001c0001t0002g0282 a0001c0001t0003g0052	14	274	0.0511	24	c.290 others(41): Show c.290-2935_290-2934insAAGGAAGGGAGGAAGGGAGGAAGG	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BEND2_chrX_18157931_18225886	18224026	T T	TATATATA others(17): Show TATATATATATATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0198 a0002c0002t0001g0198	1	292	0.0034	24	c.-32 others(35): Show c.-3277_-3276insGTGTATATATATATATATATATAT	BEND2	ENSG00000177324.14	transcript	ENST00000380033.9	protein_coding		3141		chrX	TogoVar
BEST3_chr12_69648609_69704303	69680310	C C	CTTCTTTT others(17): Show CTTCTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02735.hp1 HG02451.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0002g0302 a0001c0004t0001g0059 a0001c0001t0002g0302 a0001c0004t0001g0059	2	132	0.0152	24	c.482 others(41): Show c.482-1418_482-1417insAAAAAAAAAAAAAAAAAAAAAGAA	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	4/9			chr12	TogoVar
BFSP1_chr20_17488905_17536379	17529090	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02818.hp1 HG02970.hp2 others(1): Show HG02109.hp2 HG02818.hp1 HG02970.hp2 NA19043.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0001 a0004c0010 a0001c0002 a0002c0001 a0004c0010	a0001c0002t0001 a0002c0001t0002 a0004c0010t0001 a0001c0002t0001 a0002c0001t0002 a0004c0010t0001	a0001c0002t0001g0305 a0002c0001t0002g0302 a0002c0001t0002g0303 others(1): Show a0001c0002t0001g0305 a0002c0001t0002g0302 a0002c0001t0002g0303 a0004c0010t0001g0304	4	375	0.0107	24	c.377 others(41): Show c.377+1862_377+1863insTCACACACACACACACACACACAC	BFSP1	ENSG00000125864.14	transcript	ENST00000377873.8	protein_coding	1/7			chr20	TogoVar
BFSP2_chr3_133395056_133480208	133415351	T T	TCTACTCA others(17): Show TCTACTCACCCCTGCCCTCTCTCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00423.hp2 others(184): Show HG00099.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG03017.hp1 HG03017.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19030.hp2 NA19043.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19074.hp1 NA19074.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0008 others(5): Show a0001c0001 a0001c0002 a0001c0008 a0002c0003 a0002c0007 a0003c0010 a0004c0006 a0005c0005	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0008t0001 a0002c0003t0001 a0002c0007t0001 a0003c0010t0001 a0004c0006t0001 a0005c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(181): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0127 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0259 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0002t0001g0016 a0001c0002t0001g0035 a0001c0002t0001g0037 a0001c0002t0001g0039 a0001c0002t0001g0045 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0077 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0111 a0001c0002t0001g0116 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0124 a0001c0002t0001g0126 a0001c0002t0001g0128 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0153 a0001c0002t0001g0159 a0001c0002t0001g0169 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0183 a0001c0002t0001g0185 a0001c0002t0001g0187 a0001c0002t0001g0196 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0211 a0001c0002t0001g0213 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0223 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0229 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0240 a0001c0002t0001g0252 a0001c0002t0001g0255 a0001c0002t0001g0257 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0270 a0001c0002t0002g0225 a0001c0008t0001g0125 a0002c0003t0001g0145 a0002c0003t0001g0154 a0002c0007t0001g0243 a0003c0010t0001g0156 a0004c0006t0001g0172 a0005c0005t0001g0093	187	200	0.9350	24	c.489 others(43): Show c.489+14791_489+14792insGCCCTCTCTCCCCTACTCACCCCT	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133416821	C C	CCTCTCCC others(17): Show CCTCTCCCTTCTATTCACCCCTGTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01167.hp2 HG01169.hp1 others(21): Show HG00639.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01884.hp2 HG01934.hp2 HG01943.hp2 HG02257.hp1 HG02280.hp1 HG02615.hp1 HG02698.hp2 NA18947.hp2 NA18952.hp2 NA18962.hp1 NA18970.hp1 NA18990.hp1 NA19000.hp2 NA19030.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19085.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0018 others(21): Show a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0062 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0147 a0001c0001t0001g0168 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0214 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0271 a0001c0002t0001g0077 a0001c0002t0001g0090 a0001c0002t0001g0131 a0001c0002t0001g0213 a0001c0002t0001g0215 a0001c0002t0001g0216 a0002c0003t0001g0119	24	274	0.0876	24	c.489 others(43): Show c.489+16256_489+16257insTTCTATTCACCCCTGTTCTCTCCC	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133417092	C C	CTCTCCCC others(17): Show CTCTCCCCTCTACTCACCCCTGCCT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18999.hp1 NA19004.hp2 NA18993.hp1 NA18999.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0043 a0001c0001t0001g0222 a0001c0002t0001g0045 a0001c0001t0001g0043 a0001c0001t0001g0222 a0001c0002t0001g0045	3	274	0.0109	24	c.489 others(43): Show c.489+16534_489+16557dupCACCCCTGCCTTCTCCCCTCTACT	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133424214	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	270	0.0074	24	c.490 others(43): Show c.490-23102_490-23101insGTGTGTGTGTGTGTGTGTGTGTGT	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133449982	A A	AAAGGAAG others(17): Show AAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02004.hp1 HG02257.hp2 others(4): Show HG01884.hp2 HG02004.hp1 HG02257.hp2 HG02602.hp2 HG03098.hp1 HG03195.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0053 a0001c0001t0001g0147 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0053 a0001c0001t0001g0147 a0001c0001t0001g0157 a0001c0001t0001g0237 a0001c0004t0001g0034	7	74	0.0946	24	c.730 others(39): Show c.730-307_730-284dupAGGAAGGAAGGAAGGAAGGAAGGA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133450016	A A	AGGAAGGA others(17): Show AGGAAGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	184	0.0054	24	c.730 others(39): Show c.730-284_730-283insAGGAAGGAAGGAAGGAAGGAGGGA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BHLHA9_chr17_1265444_1276815	1275531	G G	GGTGAGTG others(17): Show GGTGAGTGTGTGTGGGTGTGTGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01515.hp1 others(1): Show HG01256.hp1 HG01258.hp2 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	4	262	0.0153	24	c.42 others(35): Show c.4260_*4261insGTGAGTGTGTGTGGGTGTGTGAGT	BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding		3717		chr17	TogoVar
BHLHA9_chr17_1265444_1276815	1275535	A A	AGTGTGTG others(17): Show AGTGTGTGTGGGTGAGTGTGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG03540.hp1 HG02818.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	2	440	0.0045	24	c.42 others(35): Show c.4264_*4265insGTGTGTGTGGGTGAGTGTGAGTGT	BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding		3721		chr17	TogoVar
BHMT_chr5_79106809_79137288	79136989	T T	TATGAATA others(17): Show TATGAATATATATTCATATATATGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02895.hp2 HG02897.hp1 others(3): Show HG02486.hp2 HG02895.hp2 HG02897.hp1 HG03098.hp1 HG03486.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0079 a0001c0001t0001g0087 others(2): Show a0001c0001t0001g0026 a0001c0001t0001g0079 a0001c0001t0001g0087 a0001c0001t0001g0169 a0001c0001t0001g0170	6	344	0.0174	24	c.58 others(35): Show c.5873_*5874insATGAATATATATTCATATATATGA	BHMT	ENSG00000145692.15	transcript	ENST00000274353.10	protein_coding		4702		chr5	TogoVar
BICC1_chr10_58507872_58836435	58601140	T T	TAATATAT others(17): Show TAATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0083 a0002c0002t0011g0083	1	17	0.0588	24	c.191 others(43): Show c.191-19715_191-19714insAATATATATATATATATATATATA	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	1/20			chr10	TogoVar
BICC1_chr10_58507872_58836435	58607317	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG01081.hp2 others(34): Show HG00621.hp2 HG00639.hp1 HG01081.hp2 HG01109.hp2 HG01255.hp1 HG01256.hp1 HG01517.hp2 HG01981.hp2 HG02040.hp1 HG02155.hp2 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02717.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03471.hp1 HG03540.hp2 HG04204.hp1 HG06807.hp2 NA18747.hp1 NA18965.hp2 NA18972.hp2 NA19060.hp2 NA19240.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0002c0002 a0002c0003 others(3): Show a0001c0001 a0002c0002 a0002c0003 a0003c0004 a0004c0005 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0001c0001t0037 a0002c0002t0004 a0002c0002t0006 a0002c0002t0008 a0002c0002t0010 a0002c0002t0018 a0002c0002t0020 a0002c0003t0009 a0002c0003t0015 a0002c0003t0016 a0002c0003t0022 a0002c0003t0036 a0002c0003t0042 a0003c0004t0014 a0003c0004t0024 a0003c0004t0034 a0003c0004t0043 a0004c0005t0033 a0007c0009t0030	a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0094 others(34): Show a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0109 a0001c0001t0002g0013 a0001c0001t0002g0031 a0001c0001t0006g0105 a0001c0001t0007g0071 a0001c0001t0007g0095 a0001c0001t0007g0122 a0001c0001t0011g0077 a0001c0001t0023g0057 a0001c0001t0027g0038 a0001c0001t0028g0022 a0001c0001t0037g0113 a0002c0002t0004g0015 a0002c0002t0004g0027 a0002c0002t0006g0075 a0002c0002t0008g0025 a0002c0002t0008g0026 a0002c0002t0010g0097 a0002c0002t0018g0131 a0002c0002t0020g0088 a0002c0003t0009g0120 a0002c0003t0015g0054 a0002c0003t0016g0050 a0002c0003t0016g0051 a0002c0003t0022g0058 a0002c0003t0036g0111 a0002c0003t0042g0114 a0003c0004t0014g0066 a0003c0004t0014g0067 a0003c0004t0024g0056 a0003c0004t0034g0034 a0003c0004t0043g0112 a0004c0005t0033g0043 a0007c0009t0030g0012	37	58	0.6379	24	c.191 others(43): Show c.191-13534_191-13511dupTAAATAAATAAATAAATAAATAAA	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICD1_chr12_32101847_32388633	32117705	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18988.hp2 NA20752.hp1 HG00408.hp2 NA18988.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0010 a0001c0002 a0002c0010	a0001c0002t0004 a0001c0002t0005 a0002c0010t0008 a0001c0002t0004 a0001c0002t0005 a0002c0010t0008	a0001c0002t0004g0107 a0001c0002t0005g0106 a0002c0010t0008g0256 a0001c0002t0004g0107 a0001c0002t0005g0106 a0002c0010t0008g0256	3	234	0.0128	24	c.213 others(43): Show c.213+10162_213+10163insCACACACACACACACACACACACA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32118087	A A	ATTTTATT others(17): Show ATTTTATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp1 NA20752.hp2 HG02486.hp1 HG02615.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0001t0036 a0001c0002t0040 a0001c0001t0017 a0001c0001t0036 a0001c0002t0040	a0001c0001t0017g0091 a0001c0001t0036g0092 a0001c0002t0040g0090 a0001c0001t0017g0091 a0001c0001t0036g0092 a0001c0002t0040g0090	3	287	0.0105	24	c.213 others(43): Show c.213+10546_213+10547insTATTTTATTTTATTTTATTTTTTT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32142453	C C	CCTATCTA others(17): Show CCTATCTATCTATCTATCTATCTAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0245 a0001c0001t0057g0245	1	131	0.0076	24	c.213 others(43): Show c.213+34922_213+34945dupCTATCTATCTATCTATCTATCTAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32142468	A A	ATCTATCT others(17): Show ATCTATCTATCTATCTATCTATCGG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02602.hp1 HG02717.hp2 others(9): Show HG01192.hp2 HG02602.hp1 HG02717.hp2 HG02922.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp1 NA18522.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 others(3): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0049 a0001c0002t0002	a0001c0001t0004g0151 a0001c0001t0006g0154 a0001c0001t0006g0155 others(9): Show a0001c0001t0004g0151 a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0006g0157 a0001c0001t0006g0158 a0001c0001t0006g0159 a0001c0001t0006g0161 a0001c0001t0006g0163 a0001c0001t0009g0162 a0001c0001t0010g0160 a0001c0001t0049g0242 a0001c0002t0002g0056	12	202	0.0594	24	c.213 others(43): Show c.213+34945_213+34946insCGGTCTATCTATCTATCTATCTAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32198323	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00741.hp1 HG02148.hp1 others(6): Show HG00609.hp1 HG00741.hp1 HG02148.hp1 HG02280.hp1 HG02976.hp2 HG03927.hp2 HG04184.hp2 NA18947.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0025 a0001c0003t0002	a0001c0001t0001g0174 a0001c0001t0001g0206 a0001c0001t0007g0025 others(6): Show a0001c0001t0001g0174 a0001c0001t0001g0206 a0001c0001t0007g0025 a0001c0002t0001g0072 a0001c0002t0002g0088 a0001c0002t0002g0241 a0001c0002t0007g0023 a0001c0002t0025g0069 a0001c0003t0002g0240	9	133	0.0677	24	c.214 others(43): Show c.214-17922_214-17921insATATATATATATATATATATATAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32346558	A A	ATATATAT others(17): Show ATATATATATATATATATACGTGTG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02145.hp1 NA21309.hp1 HG01175.hp1 HG02145.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0148 a0001c0001t0003g0220 a0001c0001t0004g0287 a0001c0001t0003g0148 a0001c0001t0003g0220 a0001c0001t0004g0287	3	273	0.0110	24	c.276 others(43): Show c.2764+7597_2764+7598insCGTGTGTATATATATATATATATA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32346560	A A	ATATATAT others(17): Show ATATATATATATATATATACGTGTG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	261	0.0038	24	c.276 others(43): Show c.2764+7599_2764+7600insCGTGTGTATATATATATATATATA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32346590	A A	ATATATAT others(17): Show ATATATATATATATATATACGTGTG	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	242	0.0041	24	c.276 others(43): Show c.2764+7629_2764+7630insCGTGTGTATATATATATATATATA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32346590	A A	ATATATAT others(17): Show ATATATATATATATATATATACGTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG04204.hp2 HG02559.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0054 a0001c0001t0004g0113 a0001c0001t0001g0054 a0001c0001t0004g0113	2	243	0.0082	24	c.276 others(43): Show c.2764+7631_2764+7632insCGTGTATATATATATATATATATA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32384588	G G	GTCTTCCT others(17): Show GTCTTCCTCCTCCTCTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0173 a0001c0001t0019g0173	1	107	0.0093	24	c.69 others(35): Show c.6961_*6962insTCTTCCTCCTCCTCTTCTTCTTCT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		956		chr12	TogoVar
BICD1_chr12_32101847_32388633	32384588	G G	GTCTTCTT others(17): Show GTCTTCTTCTTCTTCTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG01261.hp2 HG01952.hp1 others(12): Show HG00438.hp2 HG01261.hp2 HG01952.hp1 HG02027.hp1 HG02145.hp1 HG03041.hp2 HG03579.hp1 HG04115.hp2 NA18944.hp2 NA18951.hp1 NA18960.hp2 NA18986.hp1 NA18999.hp1 NA19002.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0024 a0001c0001t0049 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0045 a0001c0004t0001 a0001c0006t0001	a0001c0001t0001g0203 a0001c0001t0004g0287 a0001c0001t0008g0114 others(12): Show a0001c0001t0001g0203 a0001c0001t0004g0287 a0001c0001t0008g0114 a0001c0001t0008g0119 a0001c0001t0024g0209 a0001c0001t0049g0242 a0001c0002t0001g0083 a0001c0002t0002g0082 a0001c0002t0004g0012 a0001c0002t0004g0017 a0001c0002t0005g0123 a0001c0002t0005g0250 a0001c0002t0045g0198 a0001c0004t0001g0196 a0001c0006t0001g0059	15	121	0.1240	24	c.69 others(35): Show c.6961_*6962insTCTTCTTCTTCTTCTTCTTCTTCT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		956		chr12	TogoVar
BICD1_chr12_32101847_32388633	32384593	C C	CTTCTTCT others(17): Show CTTCTTCTTCTTCTTCTTCTTCTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02602.hp1 HG03927.hp2 others(6): Show HG02056.hp1 HG02602.hp1 HG03927.hp2 NA18948.hp2 NA18951.hp2 NA18960.hp1 NA18982.hp2 NA18983.hp1 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0002t0005 a0001c0002t0021 others(1): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0021 a0001c0003t0002	a0001c0002t0002g0049 a0001c0002t0002g0056 a0001c0002t0005g0104 others(6): Show a0001c0002t0002g0049 a0001c0002t0002g0056 a0001c0002t0005g0104 a0001c0002t0005g0112 a0001c0002t0005g0116 a0001c0002t0005g0117 a0001c0002t0021g0169 a0001c0002t0021g0248 a0001c0003t0002g0240	9	286	0.0315	24	c.69 others(35): Show c.6966_*6967insTTCTTCTTCTTCTTCTTCTTCTTA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		961		chr12	TogoVar
BICD2_chr9_92706363_92769833	92757312	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0005 a0009c0015t0005	a0009c0015t0005g0281 a0009c0015t0005g0281	1	115	0.0087	24	c.240 others(41): Show c.240+7169_240+7192dupTTTTTTTTTTTTTTTTTTTTTTTT	BICD2	ENSG00000185963.14	transcript	ENST00000356884.11	protein_coding	1/6			chr9	TogoVar
BICDL1_chr12_119984236_120099494	120033367	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03098.hp1 HG03041.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0125 a0001c0001t0009g0124 a0001c0001t0001g0125 a0001c0001t0009g0124	2	110	0.0182	24	c.646 others(43): Show c.646-28322_646-28321insTTTTTTTTTTTTTTTTTTTTTTTT	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL1_chr12_119984236_120099494	120045917	T T	TATAATAA others(17): Show TATAATAATAATAATAATAATAATA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0260 a0001c0001t0003g0260	1	136	0.0074	24	c.646 others(43): Show c.646-15774_646-15773insTAATAATAATAATAATAATAATAA	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL2_chr16_3022682_3041944	3034658	C C	CTCCTTCC others(17): Show CTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	162	0.0062	24	c.282 others(39): Show c.282+533_282+556dupAGGAAGGAAGGAAGGAAGGAAGGA	BICDL2	ENSG00000162069.16	transcript	ENST00000572449.6	protein_coding	2/9			chr16	TogoVar
BICRAL_chr6_42777052_42873556	42814499	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18951.hp2 HG00621.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0051 a0001c0001t0001g0055	2	208	0.0096	24	c.-6+ others(39): Show c.-6+4099_-6+4100insGTATATATATATATATATATATAT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42814499	G G	GTGTGTAT others(17): Show GTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	207	0.0048	24	c.-6+ others(39): Show c.-6+4099_-6+4100insGTGTATATATATATATATATATAT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42814499	G G	GTGTGTGT others(17): Show GTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	207	0.0048	24	c.-6+ others(39): Show c.-6+4099_-6+4100insGTGTGTATATATATATATATATAT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42814499	G G	GTGTGTGT others(17): Show GTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19043.hp1 HG02258.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	2	208	0.0096	24	c.-6+ others(39): Show c.-6+4099_-6+4100insGTGTGTGTATATATATATATATAT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRA_chr19_47604134_47708277	47685786	T T	TGTGTGTG others(17): Show TGTGTGTGTGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp2 NA19064.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0231 a0001c0001t0001g0225 a0001c0001t0001g0231	2	131	0.0153	24	c.228 others(43): Show c.2283+3635_2283+3636insTGTGTGTGCGCGCGCGCGCGCGCG	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar

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