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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ALOX15B_chr17_8034059_8054134	8052900	TAGATAGT others(4): Show TAGATAGTAGAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01952.hp1 HG01934.hp2 HG01952.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0024 a0002c0003t0001g0046 a0001c0001t0001g0024 a0002c0003t0001g0046	2	468	0.0043	-11	c.43 others(22): Show c.4336_*4346delAGATAGTAGAC		ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding					3767		chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8053035	AGTAGATA others(4): Show AGTAGATAGATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0026 a0026	a0026c0040 a0026c0040	a0026c0040t0009 a0026c0040t0009	a0026c0040t0009g0077 a0026c0040t0009g0077	1	468	0.0021	-11	c.44 others(22): Show c.4471_*4481delGTAGATAGATG		ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding					3902		chr17	TogoVar
ALOX15_chr17_4625919_4646678	4639538	ACCAGGCG others(4): Show ACCAGGCGTCGT	A A	frameshift_variant frameshift_variant	HIGH	NA19066.hp2 NA19066.hp2	a0014 a0014	a0014c0012 a0014c0012	a0014c0012t0001 a0014c0012t0001	a0014c0012t0001g0173 a0014c0012t0001g0173	1	469	0.0021	-11	c.218 others(18): Show c.218_228delACGACGCCTGG	p.Asp others(4): Show p.Asp73fs	ALOX15	ENSG00000161905.13	transcript	ENST00000293761.8	protein_coding	2/14	255/2697	218/1989	73/662			chr17	TogoVar
ALOX5AP_chr13_30730543_30769426	30741103	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02698.hp2 HG03516.hp2 others(7): Show HG01361.hp1 HG02698.hp2 HG03516.hp2 HG03688.hp1 NA18949.hp2 NA18967.hp2 NA18989.hp2 NA19010.hp2 NA19078.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0094 a0001c0001t0001g0134 a0001c0001t0001g0148 others(7): Show a0001c0001t0001g0094 a0001c0001t0001g0134 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0191 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0276 a0001c0001t0002g0147	10	13	0.7692	-11	c.71- others(26): Show c.71-2932_71-2922delTTTTTTTTTTT		ALOX5AP	ENSG00000132965.10	transcript	ENST00000380490.5	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr13	TogoVar
ALOX5_chr10_45369216_45451117	45392720	AAAAAAGA others(4): Show AAAAAAGAAGAG	A A	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0240 a0002c0005t0003g0240	1	344	0.0029	-11	c.350 others(28): Show c.350-3132_350-3122delAAAGAAGAGAA		ALOX5	ENSG00000012779.12	transcript	ENST00000374391.7	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
ALOX5_chr10_45369216_45451117	45402453	GCATCTCG others(4): Show GCATCTCGAGGA	G G	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	344	0.0029	-11	c.431 others(28): Show c.431+6520_431+6530delTCTCGAGGACA		ALOX5	ENSG00000012779.12	transcript	ENST00000374391.7	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
ALOXE3_chr17_8090900_8123514	8107938	AAAGAAAG others(4): Show AAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01978.hp2 NA18947.hp2 others(1): Show HG01123.hp1 HG01978.hp2 NA18947.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0191 a0001c0001t0002g0196 a0001c0002t0001g0017 others(1): Show a0001c0001t0002g0191 a0001c0001t0002g0196 a0001c0002t0001g0017 a0001c0002t0001g0192	4	417	0.0096	-11	c.168 others(28): Show c.1684+519_1684+529delCTTTCTTTCTT		ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15						chr17	TogoVar
ALOXE3_chr17_8090900_8123514	8107941	GAAAGAAA others(4): Show GAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01175.hp1 HG02056.hp2 others(1): Show HG00423.hp1 HG01175.hp1 HG02056.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0275 a0001c0001t0002g0293 others(1): Show a0001c0001t0002g0010 a0001c0001t0002g0275 a0001c0001t0002g0293 a0001c0001t0002g0326	4	416	0.0096	-11	c.168 others(28): Show c.1684+516_1684+526delTTTCTTTCTTT		ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15						chr17	TogoVar
ALOXE3_chr17_8090900_8123514	8107959	AAGGAAGG others(4): Show AAGGAAGGAGAG	A A	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0332 a0001c0001t0002g0332	1	403	0.0025	-11	c.168 others(28): Show c.1684+498_1684+508delCTCTCCTTCCT		ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15						chr17	TogoVar
ALOXE3_chr17_8090900_8123514	8110577	CTTCCCTC others(4): Show CTTCCCTCCCAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02630.hp1 HG02896.hp2 others(4): Show HG01891.hp1 HG02630.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03041.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001	a0001c0001t0002g0045 a0001c0001t0002g0124 a0001c0001t0005g0020 others(2): Show a0001c0001t0002g0045 a0001c0001t0002g0124 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0002t0001g0330	7	420	0.0167	-11	c.958 others(24): Show c.958-60_958-50delATGGGAGGGAA		ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	8/15						chr17	TogoVar
ALPK2_chr18_58476247_58634091	58478959	TACTATAT others(4): Show TACTATATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18991.hp2 NA18998.hp2 others(4): Show NA18960.hp2 NA18991.hp2 NA18998.hp2 NA19055.hp2 NA19068.hp2 NA19080.hp1 NA19085.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0001 a0003c0004 others(1): Show a0001c0002 a0002c0001 a0003c0004 a0003c0056	a0001c0002t0003 a0002c0001t0003 a0003c0004t0003 others(2): Show a0001c0002t0003 a0002c0001t0003 a0003c0004t0003 a0003c0004t0006 a0003c0056t0006	a0001c0002t0003g0301 a0002c0001t0003g0204 a0003c0004t0003g0310 others(4): Show a0001c0002t0003g0301 a0002c0001t0003g0204 a0003c0004t0003g0310 a0003c0004t0003g0311 a0003c0004t0006g0027 a0003c0004t0006g0037 a0003c0056t0006g0087	7	318	0.0220	-11	c.28 others(22): Show c.2853_*2863delGTATATATAGT		ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding					2287		chr18	TogoVar
ALPK2_chr18_58476247_58634091	58512156	CCCCTGTG others(4): Show CCCCTGTGGCTA	C C	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0016 a0004c0003t0016	a0004c0003t0016g0286 a0004c0003t0016g0286	1	318	0.0031	-11	c.602 others(30): Show c.6029+2826_6029+2836delTAGCCACAGGG		ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	10/12						chr18	TogoVar
ALPK2_chr18_58476247_58634091	58633335	CTTAAGTG others(4): Show CTTAAGTGCAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0221 a0001c0002t0001g0221	1	318	0.0031	-11	c.-46 others(22): Show c.-4603_-4593delACTGCACTTAA		ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding					4245		chr18	TogoVar
ALPK3_chr15_84812356_84878479	84827681	ATGGTGGG others(4): Show ATGGTGGGGTGG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0111 a0001c0001t0005g0111	1	338	0.0030	-11	c.304 others(24): Show c.304+77_304+87delTGGTGGGGTGG		ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	3/13						chr15	TogoVar
ALPL_chr1_21504423_21583410	21551719	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0132 a0002c0002t0005g0132	1	85	0.0118	-11	c.-10 others(30): Show c.-104-2243_-104-2233delTTTTTTTTTTT		ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ALPL_chr1_21504423_21583410	21558419	TGAGGAAG others(4): Show TGAGGAAGGCAG	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01346.hp2 HG02273.hp2 others(2): Show HG01123.hp2 HG01346.hp2 HG02273.hp2 HG02738.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0107 a0001c0001t0002g0085 a0001c0001t0002g0198 others(2): Show a0001c0001t0001g0107 a0001c0001t0002g0085 a0001c0001t0002g0198 a0001c0001t0002g0360 a0001c0001t0002g0361	5	368	0.0136	-11	c.62- others(26): Show c.62-2202_62-2192delAAGGCAGGAGG		ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ALPL_chr1_21504423_21583410	21576242	GGATGGAT others(4): Show GGATGGATGGAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01070.hp2 HG01074.hp2 others(18): Show HG00099.hp1 HG01070.hp2 HG01074.hp2 HG01106.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01346.hp1 HG01981.hp1 HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02615.hp2 HG02738.hp2 HG02896.hp1 HG03195.hp1 HG03516.hp1 HG03654.hp1 HG03710.hp2 NA18941.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0003t0002 a0001c0003t0005 a0002c0002t0005 a0002c0002t0007	a0001c0001t0002g0047 a0001c0001t0002g0232 a0001c0001t0002g0270 others(18): Show a0001c0001t0002g0047 a0001c0001t0002g0232 a0001c0001t0002g0270 a0001c0001t0004g0070 a0001c0001t0004g0089 a0001c0001t0007g0125 a0001c0001t0007g0127 a0001c0001t0007g0129 a0001c0001t0007g0280 a0001c0001t0009g0170 a0001c0003t0002g0071 a0001c0003t0005g0082 a0001c0003t0005g0117 a0001c0003t0005g0186 a0001c0003t0005g0233 a0001c0003t0005g0252 a0002c0002t0005g0132 a0002c0002t0005g0157 a0002c0002t0005g0274 a0002c0002t0007g0153 a0002c0002t0007g0156	21	368	0.0571	-11	c.119 others(28): Show c.1190-267_1190-257delATGGATGGATG		ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ALX3_chr1_110054870_110075672	110062634	TGTGTGTG others(4): Show TGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	420	0.0024	-11	c.595 others(28): Show c.595-1082_595-1072delCACACACACAC		ALX3	ENSG00000156150.9	transcript	ENST00000647563.2	protein_coding	2/3						chr1	TogoVar
ALX3_chr1_110054870_110075672	110069048	TACCTGTC others(4): Show TACCTGTCTCTG	T T	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	420	0.0024	-11	c.277 others(28): Show c.277+1277_277+1287delCAGAGACAGGT		ALX3	ENSG00000156150.9	transcript	ENST00000647563.2	protein_coding	1/3						chr1	TogoVar
ALYREF_chr17_81882835_81896586	81887963	AAAAAAAA others(4): Show AAAAAAAAAAAG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0022	1	320	0.0031	-11	c.15 others(20): Show c.157_*167delCTTTTTTTTTT		ALYREF	ENSG00000183684.8	transcript	ENST00000505490.3	protein_coding	6/6				157		chr17	TogoVar
AMBN_chr4_70587256_70612288	70592267	AGCAAGTC others(4): Show AGCAAGTCCCAC	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0005 a0001c0001t0008g0005	2	478	0.0042	-11	c.-88 others(18): Show c.-88_-78delAGTCCCACGCA		AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding	1/13				78	INFO_REALIGN_3_PRIME	chr4	TogoVar
AMBRA1_chr11_46391414_46599023	46400473	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	13	0.0769	-11	c.340 others(30): Show c.3404-2541_3404-2531delAAAAAAAAAAA		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	17/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46518429	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp1 HG02622.hp1 others(9): Show HG02451.hp1 HG02559.hp1 HG02622.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03486.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0061 a0001c0001t0001g0062 others(9): Show a0001c0001t0001g0025 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0154	12	89	0.1348	-11	c.207 others(30): Show c.2073-5627_2073-5617delTTTTTTTTTTT		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	7/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46558548	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02965.hp1 HG01109.hp1 HG02965.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0012 a0001c0005t0001g0022 a0001c0005t0001g0012 a0001c0005t0001g0022	2	63	0.0317	-11	c.-12 others(32): Show c.-120-10059_-120-10049delTTTTTTTTTTT		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46583650	TCCAAAAA others(4): Show TCCAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	103	0.0097	-11	c.-12 others(32): Show c.-121+10167_-121+10177delTTTTTTTTTGG		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46585696	ATATATAT others(4): Show ATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03486.hp2 HG01261.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0153 a0001c0002t0002g0156 a0001c0002t0002g0153 a0001c0002t0002g0156	2	156	0.0128	-11	c.-12 others(30): Show c.-121+8121_-121+8131delATATATATATA		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46595535	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	4	0.2500	-11	c.-18 others(22): Show c.-1839_-1829delTTTTTTTTTTT		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding					1513		chr11	TogoVar
AMD1_chr6_110869785_110900713	110878268	CCATCTGG others(4): Show CCATCTGGAATT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02258.hp1 HG00642.hp2 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0051 a0001c0001t0007g0125 a0001c0001t0007g0051 a0001c0001t0007g0125	2	392	0.0051	-11	c.110 others(28): Show c.110+3054_110+3064delCATCTGGAATT		AMD1	ENSG00000123505.19	transcript	ENST00000368885.8	protein_coding	1/8						chr6	TogoVar
AMDHD1_chr12_95938331_95973720	95946585	CCCCCTCC others(4): Show CCCCCTCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0063 a0002c0003t0001g0063	1	402	0.0025	-11	c.137 others(28): Show c.137+3055_137+3065delTCCCCCTCCCC		AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95946597	CCCCCTCC others(4): Show CCCCCTCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0027 a0002c0003t0001g0027	1	402	0.0025	-11	c.137 others(28): Show c.137+3067_137+3077delTCCCCCTCCCC		AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
AMDHD2_chr16_2515371_2536417	2533430	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0032 a0001c0001t0011g0032	1	13	0.0769	-11	c.38 others(22): Show c.3868_*3878delTTTTTTTTTTT		AMDHD2	ENSG00000162066.16	transcript	ENST00000293971.11	protein_coding					2014		chr16	TogoVar
AMER3_chr2_130750540_130773134	130756063	TCGAGCGC others(4): Show TCGAGCGCGGCC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	358	0.0028	-11	c.-20 others(26): Show c.-20+396_-20+406delCGGCCCGAGCG		AMER3	ENSG00000178171.12	transcript	ENST00000321420.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr2	TogoVar
AMFR_chr16_56356452_56430545	56361753	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01256.hp2 HG02148.hp1 HG03041.hp2 others(5): Show HG01256.hp2 HG02148.hp1 HG03041.hp2 HG03491.hp2 NA18942.hp1 NA18948.hp1 NA18962.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0016 a0001c0001t0015 a0001c0001t0016	a0001c0001t0015g0176 a0001c0001t0015g0284 a0001c0001t0015g0291 others(5): Show a0001c0001t0015g0176 a0001c0001t0015g0284 a0001c0001t0015g0291 a0001c0001t0015g0300 a0001c0001t0016g0141 a0001c0001t0016g0148 a0001c0001t0016g0195 a0001c0001t0016g0200	8	69	0.1159	-11	c.11 others(22): Show c.1145_*1155delTTTTTTTTTTT		AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	14/14				1145		chr16	TogoVar
AMHR2_chr12_53418855_53436672	53436180	AAAAAAGA others(4): Show AAAAAAGAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 NA19072.hp2 HG01496.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0004 a0001c0001t0002g0006	2	354	0.0056	-11	c.47 others(22): Show c.4708_*4718delAAAAAGAAAAG		AMHR2	ENSG00000135409.11	transcript	ENST00000257863.9	protein_coding					4509		chr12	TogoVar
AMIGO1_chr1_109499178_109514727	109511252	AAAAAAAG others(4): Show AAAAAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 NA18941.hp1 HG01433.hp2 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	385	0.0052	-11	c.-19 others(22): Show c.-1931_-1921delCTTTCTTTTTT		AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding					1526		chr1	TogoVar
AMIGO1_chr1_109499178_109514727	109511256	AAAGAAAG others(4): Show AAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0026	-11	c.-19 others(22): Show c.-1935_-1925delCTTTCTTTCTT		AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding					1530		chr1	TogoVar
AMMECR1_chrX_110189186_110323085	110232889	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02976.hp2 HG03098.hp1 HG01109.hp1 HG02976.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0014 a0001c0001t0005g0006 a0001c0001t0005g0014	3	105	0.0286	-11	c.585 others(30): Show c.585-16268_585-16258delTTTTTTTTTTT		AMMECR1	ENSG00000101935.13	transcript	ENST00000262844.10	protein_coding	2/5						chrX	TogoVar
AMMECR1_chrX_110189186_110323085	110307864	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	125	0.0080	-11	c.473 others(28): Show c.473+9724_473+9734delAAAAAAAAAAA		AMMECR1	ENSG00000101935.13	transcript	ENST00000262844.10	protein_coding	1/5						chrX	TogoVar
AMOTL1_chr11_94763356_94881748	94787687	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0214 a0001c0006t0001g0214	1	3	0.3333	-11	c.50- others(26): Show c.50-7294_50-7284delAAAAAAAAAAA		AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
AMOTL1_chr11_94763356_94881748	94808092	AAACAAAA others(4): Show AAACAAAACAAG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02735.hp2 HG04228.hp1 HG00738.hp2 HG02735.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0228 a0001c0001t0007g0229 a0001c0001t0007g0230 a0001c0001t0007g0228 a0001c0001t0007g0229 a0001c0001t0007g0230	3	244	0.0123	-11	c.112 others(30): Show c.1121+7792_1121+7802delGAACAAAACAA		AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
AMOTL2_chr3_134350347_134379447	134363296	GGAGGAAA others(4): Show GGAGGAAAATAC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00609.hp1 HG00735.hp1 others(32): Show HG00323.hp2 HG00609.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp2 HG01978.hp2 HG01981.hp2 HG02145.hp1 HG02258.hp2 HG02300.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG03195.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03927.hp2 NA20129.hp1 NA20905.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0010 a0001c0001 a0002c0002 a0007c0010	a0001c0001t0002 a0001c0001t0005 a0001c0001t0017 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0017 a0001c0001t0033 a0001c0001t0034 a0002c0002t0003 a0007c0010t0002 a0007c0010t0004	a0001c0001t0002g0005 a0001c0001t0002g0026 a0001c0001t0002g0027 others(15): Show a0001c0001t0002g0005 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0033 a0001c0001t0002g0107 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0005g0112 a0001c0001t0017g0032 a0001c0001t0033g0106 a0001c0001t0034g0111 a0002c0002t0003g0025 a0007c0010t0002g0117 a0007c0010t0004g0118	35	334	0.1048	-11	c.128 others(30): Show c.1280-1500_1280-1490delGTATTTTCCTC		AMOTL2	ENSG00000114019.15	transcript	ENST00000249883.10	protein_coding	5/9						chr3	TogoVar
AMPH_chr7_38378704_38636373	38406719	TCTCTCCC others(4): Show TCTCTCCCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01109.hp1 HG00642.hp2 HG01109.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0106 a0002c0004t0005g0142 a0002c0004t0005g0106 a0002c0004t0005g0142	2	260	0.0077	-11	c.139 others(32): Show c.1398+11095_1398+11105delGAAAGGGAGAG		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20						chr7	TogoVar
AMPH_chr7_38378704_38636373	38473710	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0004 a0003c0006t0004g0004	1	145	0.0069	-11	c.590 others(28): Show c.590+1610_590+1620delTTTTTTTTTTT		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	7/20						chr7	TogoVar
AMPH_chr7_38378704_38636373	38571287	ATATTTAT others(4): Show ATATTTATATAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02698.hp1 HG03540.hp1 others(1): Show HG00741.hp2 HG02698.hp1 HG03540.hp1 HG04115.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0006 a0001c0001 a0002c0004 a0003c0006	a0001c0001t0001 a0002c0004t0005 a0003c0006t0004 a0001c0001t0001 a0002c0004t0005 a0003c0006t0004	a0001c0001t0001g0091 a0001c0001t0001g0149 a0002c0004t0005g0051 others(1): Show a0001c0001t0001g0091 a0001c0001t0001g0149 a0002c0004t0005g0051 a0003c0006t0004g0140	4	286	0.0140	-11	c.70- others(28): Show c.70-36287_70-36277delATATATAAATA		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20						chr7	TogoVar
AMPH_chr7_38378704_38636373	38610234	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0223 a0005c0015t0001g0223	1	239	0.0042	-11	c.69+ others(28): Show c.69+21038_69+21048delTTTTTTTTTTT		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20						chr7	TogoVar
AMPH_chr7_38378704_38636373	38610296	GAAAAGAA others(4): Show GAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03130.hp1 HG03669.hp1 others(1): Show HG02109.hp2 HG03130.hp1 HG03669.hp1 NA18980.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0008 others(1): Show a0001c0001 a0001c0005 a0002c0008 a0003c0006	a0001c0001t0006 a0001c0005t0004 a0002c0008t0002 others(1): Show a0001c0001t0006 a0001c0005t0004 a0002c0008t0002 a0003c0006t0004	a0001c0001t0006g0277 a0001c0005t0004g0013 a0002c0008t0002g0117 others(1): Show a0001c0001t0006g0277 a0001c0005t0004g0013 a0002c0008t0002g0117 a0003c0006t0004g0085	4	217	0.0184	-11	c.69+ others(28): Show c.69+20976_69+20986delTCTTTTCTTTT		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20						chr7	TogoVar
AMTN_chr4_70513569_70537743	70521640	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA19002.hp2 NA18987.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	2	11	0.1818	-11	c.55- others(26): Show c.55-1089_55-1079delTTTTTTTTTTT		AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
AMT_chr3_49411778_49427473	49414655	CTGGGCCC others(4): Show CTGGGCCCAGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	356	0.0028	-11	c.28 others(22): Show c.2874_*2884delCCCTGGGCCCA		AMT	ENSG00000145020.16	transcript	ENST00000273588.9	protein_coding					2122		chr3	TogoVar
AMY1A_chr1_103650760_103669554	103661437	TTTTTAGA others(4): Show TTTTTAGATTCC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01070.hp1 HG01884.hp2 others(7): Show HG00738.hp1 HG01070.hp1 HG01884.hp2 HG01934.hp1 HG02055.hp1 HG02109.hp1 HG02572.hp2 HG02965.hp2 HG03688.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0013 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014	10	230	0.0435	-11	c.110 others(28): Show c.1101+765_1101+775delTAGATTCCTTT		AMY1A	ENSG00000237763.10	transcript	ENST00000370083.9	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
AMY1C_chr1_103744898_103763692	103745799	TTAGAGGA others(4): Show TTAGAGGAATGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	340	0.0029	-11	c.-43 others(22): Show c.-4313_-4303delTAGAGGAATGA		AMY1C	ENSG00000187733.7	transcript	ENST00000622339.5	protein_coding					4098		chr1	TogoVar

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