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
BATF3_chr1_212681417_212704840	212681420	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	72	0.0139	27	c.53 others(38): Show c.5370_*5371insAAAAAAAAAAAAAAAAAAAAAAAAAAA	BATF3	ENSG00000123685.9	transcript	ENST00000243440.2	protein_coding		4996		chr1	TogoVar
BATF3_chr1_212681417_212704840	212687967	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	158	0.0063	27	c.196 others(42): Show c.196-989_196-988insCTTTCTTTCTTTCTTTCTTTCTTTCTT	BATF3	ENSG00000123685.9	transcript	ENST00000243440.2	protein_coding	2/2			chr1	TogoVar
BAZ1B_chr7_73435406_73527293	73526868	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0191 a0001c0001t0003g0191	1	146	0.0068	27	c.-49 others(38): Show c.-4936_-4935insATATATATATATATATATATATTTTTT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding		4576		chr7	TogoVar
BAZ1B_chr7_73435406_73527293	73526868	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0199 a0001c0003t0006g0199	1	146	0.0068	27	c.-49 others(38): Show c.-4936_-4935insATATATATATATATATATATATATTTT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding		4576		chr7	TogoVar
BBC3_chr19_47215824_47236199	47225838	T T	TTGAGAGA others(20): Show TTGAGAGAGGCCAACTCGAGAGATTTCC	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	410	0.0024	27	c.465 others(42): Show c.465+699_465+725dupGGAAATCTCTCGAGTTGGCCTCTCTCA	BBC3	ENSG00000105327.18	transcript	ENST00000439096.3	protein_coding	3/3			chr19	TogoVar
BBOX1_chr11_27035815_27132809	27057063	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	196	0.0051	27	c.220 others(42): Show c.220-138_220-137insAAAAAAAAAAAAAAAAAAAAAAAAAAA	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	3/8			chr11	TogoVar
BBS2_chr16_56479385_56525024	56480350	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	378	0.0026	27	c.44 others(38): Show c.4410_*4411insTTTTTTTTTTTTTTTTTTTTTTTTTTT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4034		chr16	TogoVar
BBS2_chr16_56479385_56525024	56480352	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	269	0.0037	27	c.44 others(38): Show c.4408_*4409insTTTTTTTTTTTTTTTTTTTTTTTTTTT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4032		chr16	TogoVar
BBS2_chr16_56479385_56525024	56480352	C C	CACAAAAA others(20): Show CACAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG04115.hp1 NA19010.hp1 HG03942.hp2 HG04115.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0133 a0001c0001t0001g0205 a0001c0001t0001g0028 a0001c0001t0001g0133 a0001c0001t0001g0205	3	271	0.0111	27	c.44 others(38): Show c.4408_*4409insTTTTTTTTTTTTTTTTTTTTTTTTTGT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4032		chr16	TogoVar
BCAS1_chr20_53938541_54075594	54041908	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01257.hp2 HG02698.hp1 others(4): Show HG00140.hp1 HG01257.hp2 HG02698.hp1 HG03654.hp2 HG03669.hp2 NA19066.hp2 NA20752.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0014 a0029	a0001c0001 a0002c0002 a0006c0006 others(2): Show a0001c0001 a0002c0002 a0006c0006 a0014c0014 a0029c0033	a0001c0001t0001 a0002c0002t0002 a0002c0002t0022 others(4): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0022 a0006c0006t0013 a0006c0006t0017 a0014c0014t0003 a0029c0033t0003	a0001c0001t0001g0167 a0002c0002t0002g0209 a0002c0002t0022g0131 others(4): Show a0001c0001t0001g0167 a0002c0002t0002g0209 a0002c0002t0022g0131 a0006c0006t0013g0176 a0006c0006t0017g0351 a0014c0014t0003g0311 a0029c0033t0003g0175	7	243	0.0288	27	c.143 others(46): Show c.143-12937_143-12936insTTTTTTTTTTTTTTTTTTTTTTTTTT T	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	3/12			chr20	TogoVar
BCAS3_chr17_60672851_61397831	60825544	A A	AATTATTT others(20): Show AATTATTTATAATAATTTATAAATAATT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0026 a0003c0001t0001g0026	1	74	0.0135	27	c.476 others(46): Show c.476+17494_476+17520dupTTATTATTTATAATAATTTATAAATA A	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCHE_chr3_165767904_165842423	165840283	T T	TATAGATA others(20): Show TATAGATAGATAGATAGATAGATAGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0002 a0002c0002t0004g0002	1	194	0.0052	27	c.-29 others(38): Show c.-2979_-2978insCATCTATCTATCTATCTATCTATCTAT	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding		2861		chr3	TogoVar
BCHE_chr3_165767904_165842423	165840294	A A	AGATAGAT others(20): Show AGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0054 a0002c0002t0002g0054	1	302	0.0033	27	c.-29 others(38): Show c.-2990_-2989insATCTATCTATCTATCTATCTATCTATC	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding		2872		chr3	TogoVar
BCL11A_chr2_60452194_60558654	60467402	A A	ATGGTGGT others(20): Show ATGGTGGTGGTGGTGGTGATGCTACTGG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0018 a0001c0009t0001g0018	1	183	0.0055	27	c.487 others(44): Show c.487+1329_487+1330insCCAGTAGCATCACCACCACCACCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467450	A A	ATGGTGGT others(20): Show ATGGTGGTGATGGTGGTGGTGATGGTGG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0072 a0001c0002t0004g0072	1	229	0.0044	27	c.487 others(44): Show c.487+1281_487+1282insCCACCATCACCACCACCATCACCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467531	A A	ATGGTGGT others(20): Show ATGGTGGTGGTGGTGGTGATGCTACTGG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01361.hp1 HG00738.hp2 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0004 a0001c0007t0002 a0001c0001t0004 a0001c0007t0002	a0001c0001t0004g0077 a0001c0007t0002g0095 a0001c0001t0004g0077 a0001c0007t0002g0095	2	170	0.0118	27	c.487 others(44): Show c.487+1200_487+1201insCCAGTAGCATCACCACCACCACCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0096 a0002c0002t0003g0096	1	219	0.0046	27	c.-43 others(38): Show c.-4377_-4376insAAAAAAAAATATATATATATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L11_chr2_111115914_111173444	111120979	T T	TGCCGCTG others(20): Show TGCCGCTGCCGCCGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	45	0.0222	27	c.-21 others(36): Show c.-218_-217insTGCCGCCGCCGCCGCCGCCGCCGCCGC	BCL2L11	ENSG00000153094.25	transcript	ENST00000393256.8	protein_coding	1/4	2761	INFO_REALIGN_3_PRIME	chr2	TogoVar
BCL2L13_chr22_17633757_17735855	17680511	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0298 a0001c0001t0028g0298	1	254	0.0039	27	c.122 others(44): Show c.122-2699_122-2673dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17717380	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02809.hp1 HG02965.hp2 others(2): Show HG02647.hp2 HG02809.hp1 HG02965.hp2 NA18906.hp1 NA20300.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0003 a0005c0008t0019 a0001c0001t0003 a0005c0008t0019	a0001c0001t0003g0029 a0001c0001t0003g0034 a0001c0001t0003g0251 others(2): Show a0001c0001t0003g0029 a0001c0001t0003g0034 a0001c0001t0003g0251 a0005c0008t0019g0254 a0005c0008t0019g0255	5	215	0.0233	27	c.601 others(44): Show c.601-9291_601-9290insAAAAAAAAAAAAAAAAAAAAAAAAAAA	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17720154	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0142 a0001c0001t0011g0142	1	109	0.0092	27	c.601 others(44): Show c.601-6521_601-6520insCTTTCTTTCTTTCTTTCTTTCTTTCTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L1_chr20_31659458_31727868	31697892	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTGTTTGTTTGTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	67	0.0149	27	c.564 others(46): Show c.564+23762_564+23763insAAAACAAACAAACAAAAAAAAAAAAA A	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2L1_chr20_31659458_31727868	31697892	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTGTTTGTTTGTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	67	0.0149	27	c.564 others(46): Show c.564+23762_564+23763insAAACAAACAAACAAAAAAAAAAAAAA A	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2L1_chr20_31659458_31727868	31697892	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	67	0.0149	27	c.564 others(46): Show c.564+23762_564+23763insAAAAAAAAAAAAAAAAAAAAAAAAAA A	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2_chr18_63118346_63324769	63169366	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0256 a0001c0001t0059g0256	1	262	0.0038	27	c.586 others(46): Show c.586-40608_586-40607insGAAAGAAAGAAAGAAAGAAAGAAAGA A	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCORL1_chrX_129977635_130063071	130043784	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	136	0.0074	27	c.484 others(46): Show c.4840+4503_4840+4504insATATATATATATATATATATATATTT T	BCORL1	ENSG00000085185.16	transcript	ENST00000540052.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chrX	TogoVar
BCR_chr22_23175509_23323037	23185645	G G	GACAGAGC others(20): Show GACAGAGCGAGACACAGTCTCAAAAAAC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0265 a0002c0003t0005g0265	1	294	0.0034	27	c.127 others(46): Show c.1279+3408_1279+3434dupCAGAGCGAGACACAGTCTCAAAAAAC A	BCR	ENSG00000186716.21	transcript	ENST00000305877.13	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCS1L_chr2_218654683_218668443	218657902	T T	TGATACTG others(20): Show TGATACTGACATTATCACTTCAACGAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	356	0.0028	27	c.-18 others(38): Show c.-1891_-1890insGATACTGACATTATCACTTCAACGAAC	BCS1L	ENSG00000074582.15	transcript	ENST00000359273.8	protein_coding		1780		chr2	TogoVar
BDH1_chr3_197504783_197560968	197542521	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01993.hp2 HG02293.hp2 others(4): Show HG00609.hp1 HG01993.hp2 HG02293.hp2 NA18747.hp2 NA18957.hp1 NA18965.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0052 a0001c0001t0003 a0001c0001t0052	a0001c0001t0003g0005 a0001c0001t0003g0079 a0001c0001t0003g0124 others(2): Show a0001c0001t0003g0005 a0001c0001t0003g0079 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0052g0123	7	178	0.0393	27	c.83+ others(42): Show c.83+3839_83+3840insAAAAAAAAAAAAAAAAAAAAAAAAAAA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	3/7			chr3	TogoVar
BEST3_chr12_69648609_69704303	69680310	C C	CTTCTTTT others(20): Show CTTCTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0062 a0001c0004t0001g0062	1	131	0.0076	27	c.482 others(44): Show c.482-1418_482-1417insAAAAAAAAAAAAAAAAAAAAAAAAGAA	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	4/9			chr12	TogoVar
BHLHA9_chr17_1265444_1276815	1275542	G G	GTGGGTGA others(20): Show GTGGGTGAGTGTGTGAGTGTGAGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	1	436	0.0023	27	c.42 others(38): Show c.4271_*4272insTGGGTGAGTGTGTGAGTGTGAGTGTGT	BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding		3728		chr17	TogoVar
BICD1_chr12_32101847_32388633	32252029	T T	TTATAATA others(20): Show TTATAATATATATTTATAATAAATATCA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp1 HG02451.hp2 others(4): Show HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 others(2): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0002t0007 a0001c0005t0009	a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0036 others(4): Show a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0009g0185 a0001c0001t0010g0156 a0001c0002t0007g0164 a0001c0005t0009g0271	7	288	0.0243	27	c.426 others(46): Show c.426+35595_426+35596insCATATAATATATATTTATAATAAATA T	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32384588	G G	GTCTTCCT others(20): Show GTCTTCCTCCTCCTCTTCTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0152 a0001c0001t0016g0152	1	107	0.0093	27	c.69 others(38): Show c.6961_*6962insTCTTCCTCCTCCTCTTCTTCTTCTTCT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		956		chr12	TogoVar
BICD1_chr12_32101847_32388633	32384588	G G	GTCTTCCT others(20): Show GTCTTCCTCTTCTTCTTCTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG03139.hp1 HG03710.hp2 others(4): Show HG01496.hp2 HG03139.hp1 HG03710.hp2 NA18959.hp1 NA18966.hp2 NA19004.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0047 a0001c0001t0003 a0001c0001t0047	a0001c0001t0003g0085 a0001c0001t0003g0087 a0001c0001t0003g0200 others(4): Show a0001c0001t0003g0085 a0001c0001t0003g0087 a0001c0001t0003g0200 a0001c0001t0003g0204 a0001c0001t0003g0226 a0001c0001t0003g0273 a0001c0001t0047g0247	7	113	0.0619	27	c.69 others(38): Show c.6961_*6962insTCTTCCTCTTCTTCTTCTTCTTCTTCT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		956		chr12	TogoVar
BICD1_chr12_32101847_32388633	32384588	G G	GTCTTCTT others(20): Show GTCTTCTTCTTCTTCTTCTTATTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0205	1	107	0.0093	27	c.69 others(38): Show c.6961_*6962insTCTTCTTCTTCTTCTTCTTATTCTTCT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		956		chr12	TogoVar
BICD1_chr12_32101847_32388633	32384588	G G	GTCTTCTT others(20): Show GTCTTCTTCTTCTTCTTCTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02129.hp2 HG02148.hp1 others(9): Show HG01891.hp1 HG02129.hp2 HG02148.hp1 HG02155.hp2 HG02559.hp1 HG03209.hp1 HG03688.hp2 NA18959.hp2 NA18971.hp1 NA18975.hp1 NA18980.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005	a0001c0001t0001g0054 a0001c0001t0001g0206 a0001c0001t0004g0149 others(9): Show a0001c0001t0001g0054 a0001c0001t0001g0206 a0001c0001t0004g0149 a0001c0001t0006g0155 a0001c0001t0008g0108 a0001c0001t0011g0269 a0001c0001t0020g0230 a0001c0002t0001g0275 a0001c0002t0002g0077 a0001c0002t0005g0001 a0001c0002t0005g0007 a0001c0002t0005g0009	12	118	0.1017	27	c.69 others(38): Show c.6961_*6962insTCTTCTTCTTCTTCTTCTTCTTCTTCT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		956		chr12	TogoVar
BICD1_chr12_32101847_32388633	32384590	C C	CTTCTTCT others(20): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 NA18950.hp1 NA19002.hp2 others(2): Show HG01358.hp2 NA18950.hp1 NA19002.hp2 NA19063.hp1 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0066 a0001c0002t0002g0088 a0001c0002t0002g0243 others(2): Show a0001c0002t0002g0066 a0001c0002t0002g0088 a0001c0002t0002g0243 a0001c0002t0005g0127 a0001c0002t0005g0134	5	287	0.0174	27	c.69 others(38): Show c.6963_*6964insTTCTTCTTCTTCTTCTTCTTCTTCTTA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		958		chr12	TogoVar
BICD1_chr12_32101847_32388633	32384593	C C	CTTCTTCT others(20): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0228 a0001c0002t0020g0228	1	278	0.0036	27	c.69 others(38): Show c.6966_*6967insTTCTTCTTCTTCTTCTTCTTCTTCTTA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		961		chr12	TogoVar
BICD2_chr9_92706363_92769833	92757312	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA18980.hp2 HG02698.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0278 a0001c0001t0005g0294 a0001c0001t0005g0278 a0001c0001t0005g0294	2	116	0.0172	27	c.240 others(44): Show c.240+7166_240+7192dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	BICD2	ENSG00000185963.14	transcript	ENST00000356884.11	protein_coding	1/6			chr9	TogoVar
BIN1_chr2_127043032_127112154	127105467	C C	CCCTCCTC others(20): Show CCCTCCTCCTCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18992.hp1 HG06807.hp1 NA18992.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0006t0001 a0001c0003t0001 a0001c0006t0001	a0001c0003t0001g0287 a0001c0006t0001g0286 a0001c0003t0001g0287 a0001c0006t0001g0286	2	129	0.0155	27	c.84+ others(42): Show c.84+1366_84+1392dupAGGAGGAGGAGGAGGAGGAGGAGGAGG	BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	1/18			chr2	TogoVar
BIRC2_chr11_102342214_102383670	102364139	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	229	0.0044	27	c.112 others(44): Show c.1123+423_1123+424insATATATATATATATATATATATATATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8			chr11	TogoVar
BIRC6_chr2_32352023_32623878	32431181	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0003 a0001c0018t0003	a0001c0018t0003g0183 a0001c0018t0003g0183	1	32	0.0313	27	c.324 others(43): Show c.3248+97_3248+123dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	12/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32440751	T T	TTTATTAT others(20): Show TTTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0060 a0001c0008t0001g0060	1	234	0.0043	27	c.381 others(44): Show c.3811-575_3811-549dupATTATTATTATTATTATTATTATTATT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	16/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32440751	T T	TTTTTTAT others(20): Show TTTTTTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0003 a0001c0006t0001g0003	1	234	0.0043	27	c.381 others(44): Show c.3811-576_3811-575insTTTATTATTATTATTATTATTATTATT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	16/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460272	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0138 a0001c0003t0001g0138	1	74	0.0135	27	c.475 others(46): Show c.4754-2921_4754-2920insATATATATATATATATATATATATTT T	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460272	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0130 a0001c0003t0001g0130	1	74	0.0135	27	c.475 others(46): Show c.4754-2921_4754-2920insATATATATATATATATATATATTTTT T	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461147	C C	CCTCCCCT others(20): Show CCTCCCCTCCCCTCCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18999.hp1 NA18955.hp1 NA18999.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0233 a0001c0005t0001g0238 a0001c0005t0001g0233 a0001c0005t0001g0238	2	190	0.0105	27	c.475 others(46): Show c.4754-2034_4754-2033insCCCTCCCCTCCCCTCTCCCCTCCCCT C	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32578977	C C	CATATATA others(20): Show CATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0010 a0010	a0010c0028 a0010c0028	a0010c0028t0001 a0010c0028t0001	a0010c0028t0001g0179 a0010c0028t0001g0179	1	265	0.0038	27	c.133 others(48): Show c.13355+3611_13355+3612insATATATATATATATATATATATAT ATA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	66/73			chr2	TogoVar
BLOC1S2_chr10_100268293_100291680	100276413	C C	CGTCTCCC others(20): Show CGTCTCCCTCTCCCGTCTCCCTCTCCCG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0155 a0001c0001t0012g0155	1	312	0.0032	27	c.398 others(42): Show c.398-921_398-920insCGGGAGAGGGAGACGGGAGAGGGAGAC	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4			chr10	TogoVar
BLTP1_chr4_122147331_122367752	122267051	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0177 a0001c0003t0001g0177	1	72	0.0139	27	c.749 others(44): Show c.7493+118_7493+119insTTTTTTTTTTTTTTTTTTTTTTTTTTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	46/87		INFO_REALIGN_3_PRIME	chr4	TogoVar

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