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
ALAD_chr9_113381312_113406284	113403951	A A	AAAAACCC others(23): Show AAAAACCCCCCACCCCCCCACACACCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	444	0.0023	30	c.-28 others(41): Show c.-2816_-2815insGGGGGGGTGTGTGGGGGGGTGGGGGGTTTT		ALAD	ENSG00000148218.16	transcript	ENST00000409155.8	protein_coding					2668		chr9	TogoVar
ALCAM_chr3_105361909_105581900	105368223	A A	AAGAGAGA others(23): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01975.hp1 HG02148.hp1 others(12): Show HG01891.hp2 HG01975.hp1 HG02148.hp1 HG02523.hp1 HG02572.hp1 HG02622.hp1 HG02886.hp1 HG03239.hp1 HG03710.hp2 HG04199.hp1 NA18522.hp1 NA18959.hp1 NA18974.hp1 NA19011.hp1 NA19066.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0006c0013	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0001c0002t0001 a0001c0002t0003 a0001c0002t0022 a0001c0003t0001 a0001c0003t0002 a0001c0009t0002 a0006c0013t0001	a0001c0001t0001g0304 a0001c0001t0001g0308 a0001c0001t0004g0306 others(12): Show a0001c0001t0001g0304 a0001c0001t0001g0308 a0001c0001t0004g0306 a0001c0001t0004g0307 a0001c0001t0013g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0003g0026 a0001c0002t0022g0303 a0001c0003t0001g0078 a0001c0003t0002g0074 a0001c0003t0002g0075 a0001c0003t0002g0076 a0001c0009t0002g0077 a0006c0013t0001g0305	15	55	0.2727	30	c.73+ others(43): Show c.73+754_73+783dupGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA		ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr3	TogoVar
ALCAM_chr3_105361909_105581900	105368254	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0334	1	375	0.0027	30	c.73+ others(43): Show c.73+783_73+784insGAGAGAGAGAGAGAGAGAGGGAGAGAGAGA		ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr3	TogoVar
ALDH1A3_chr15_100874831_100921626	100907718	G G	GAGGTTGA others(23): Show GAGGTTGAGCAATAAGCCCAGAATCATATAA	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	412	0.0024	30	c.139 others(47): Show c.1391+441_1391+470dupAGGTTGAGCAATAAGCCCAGAATCATAT AA		ALDH1A3	ENSG00000184254.17	transcript	ENST00000329841.10	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr15	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(23): Show ATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0028 a0001c0001t0012g0028	1	183	0.0055	30	c.194 others(45): Show c.194-839_194-838insAAAAAAAAAAAAAATATATATATATATATA		ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22						chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105088785	T T	TTCTCTCT others(23): Show TTCTCTCTCTCTCTGTCTCTGTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	13	0.0769	30	c.-43 others(41): Show c.-4350_-4349insGAGAGAGAGACAGAGACAGAGAGAGAGAGA		ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding					4328		chr12	TogoVar
ALDH3B2_chr11_67657155_67679623	67669836	G G	GTCCACGT others(23): Show GTCCACGTGTGTCTGTGTGTGTATGGGTGTC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0100 a0004c0003t0001g0100	1	388	0.0026	30	c.-24 others(49): Show c.-244-2202_-244-2201insGACACCCATACACACACAGACACACG TGGA		ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	1/9						chr11	TogoVar
ALDH3B2_chr11_67657155_67679623	67672085	A A	ATATATAT others(23): Show ATATATATATGTATGTATGTATGTATGTATG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0010 a0008c0012t0010	a0008c0012t0010g0178 a0008c0012t0010g0178	1	67	0.0149	30	c.-24 others(49): Show c.-245+2350_-245+2351insCATACATACATACATACATACATATA TATA		ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	1/9						chr11	TogoVar
ALDH4A1_chr1_18866430_18907555	18876661	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18980.hp2 HG00621.hp1 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0219 a0001c0005t0001g0209 a0001c0002t0001g0219 a0001c0005t0001g0209	2	10	0.2000	30	c.118 others(47): Show c.1186-195_1186-194insCACACACACACACACACACACACACACA CA		ALDH4A1	ENSG00000159423.17	transcript	ENST00000375341.8	protein_coding	11/14						chr1	TogoVar
ALDH4A1_chr1_18866430_18907555	18876665	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	399	0.0025	30	c.118 others(47): Show c.1186-199_1186-198insTACACACACACACACACACACACACACA CA		ALDH4A1	ENSG00000159423.17	transcript	ENST00000375341.8	protein_coding	11/14						chr1	TogoVar
ALDH5A1_chr6_24489969_24542207	24522478	C C	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01192.hp2 HG01993.hp2 others(3): Show HG00099.hp2 HG01192.hp2 HG01993.hp2 HG02735.hp2 NA18990.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0023 a0001c0001t0001 a0001c0009t0023	a0001c0001t0001g0016 a0001c0001t0001g0205 a0001c0001t0001g0212 others(3): Show a0001c0001t0001g0016 a0001c0001t0001g0205 a0001c0001t0001g0212 a0001c0001t0001g0219 a0001c0001t0001g0241 a0001c0009t0023g0240	6	203	0.0296	30	c.101 others(47): Show c.1015-263_1015-262insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT		ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	6/9					INFO_REALIGN_3_PRIME	chr6	TogoVar
ALG5_chr13_36944738_37004340	36977790	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	249	0.0040	30	c.562 others(47): Show c.562-5755_562-5754insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		ALG5	ENSG00000120697.10	transcript	ENST00000239891.4	protein_coding	6/9						chr13	TogoVar
ALG9_chr11_111777195_111876581	111850706	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA19080.hp1 NA18969.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0194 a0001c0001t0002g0156 a0001c0001t0002g0194	2	11	0.1818	30	c.895 others(47): Show c.895+2673_895+2674insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		ALG9	ENSG00000086848.15	transcript	ENST00000616540.5	protein_coding	8/14						chr11	TogoVar
ALKBH3_chr11_43875831_43925274	43916526	T T	TTTATCCT others(23): Show TTTATCCTTAGCCCTGGTTTTGGGGGGTGTG	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18979.hp2 NA18984.hp1 others(6): Show NA18978.hp1 NA18979.hp2 NA18984.hp1 NA19001.hp2 NA19002.hp2 NA19074.hp1 NA19080.hp2 NA19083.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0073 a0001c0001t0001g0078 others(3): Show a0001c0001t0001g0011 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082	9	374	0.0241	30	c.670 others(47): Show c.670-2509_670-2480dupATCCTTAGCCCTGGTTTTGGGGGGTGTG TT		ALKBH3	ENSG00000166199.13	transcript	ENST00000302708.9	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr11	TogoVar
ALK_chr2_29187774_29926586	29200764	T T	TATACATG others(23): Show TATACATGTTTACATATATGTGTGTATATAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0065 a0003c0003t0002g0065	1	80	0.0125	30	c.393 others(49): Show c.3939-3089_3939-3088insGTATATACACACATATATGTAAACAT GTAT		ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	26/28						chr2	TogoVar
ALK_chr2_29187774_29926586	29876626	T T	TGATGGCG others(23): Show TGATGGCGGTGATGGTGATGATGGTGACGGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp2 HG01123.hp2 others(5): Show HG00323.hp2 HG00738.hp2 HG01123.hp2 HG02145.hp1 HG02257.hp2 HG02451.hp1 HG02647.hp1 HG02922.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0006 a0001c0035 a0001c0058 others(5): Show a0001c0006 a0001c0035 a0001c0058 a0002c0001 a0002c0008 a0002c0011 a0002c0055 a0003c0005	a0001c0006t0001 a0001c0035t0001 a0001c0058t0001 others(5): Show a0001c0006t0001 a0001c0035t0001 a0001c0058t0001 a0002c0001t0001 a0002c0008t0001 a0002c0011t0001 a0002c0055t0001 a0003c0005t0002	a0001c0006t0001g0026 a0001c0035t0001g0068 a0001c0058t0001g0024 others(5): Show a0001c0006t0001g0026 a0001c0035t0001g0068 a0001c0058t0001g0024 a0002c0001t0001g0061 a0002c0008t0001g0049 a0002c0011t0001g0051 a0002c0055t0001g0031 a0003c0005t0002g0048	8	80	0.1000	30	c.667 others(49): Show c.667+43337_667+43366dupGCCGTCACCATCATCACCATCACCGC CATC		ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28						chr2	TogoVar
ALLC_chr2_3653200_3707671	3690283	T T	TCCCCTCC others(23): Show TCCCCTCCCCCCTCCCCTCCCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	235	0.0043	30	c.512 others(47): Show c.512-5430_512-5429insTCCCCCCTCCCCTCCCCCCTCCCCTCCC CC		ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3690346	C C	CTCCCCTC others(23): Show CTCCCCTCCCCCCTCCCCTCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	256	0.0039	30	c.512 others(47): Show c.512-5371_512-5370insTCCCCTCCCCCCTCCCCTCCCCCCTCCC CT		ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11						chr2	TogoVar
ALLC_chr2_3653200_3707671	3690424	T T	TCCCCCTC others(23): Show TCCCCCTCCCCCCCTCCCCCCCCCCCTCCCC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0205 a0002c0002t0001g0205	1	173	0.0058	30	c.512 others(47): Show c.512-5293_512-5292insCCCCCTCCCCCCCTCCCCCCCCCCCTCC CC		ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11						chr2	TogoVar
ALOX12_chr17_6991049_7015754	7004473	T T	TTTAATTT others(23): Show TTTAATTTAAAATTAAATATTTAATATTAAA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG04204.hp1 HG03688.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0198 a0001c0001t0001g0165 a0001c0001t0001g0198	2	402	0.0050	30	c.116 others(47): Show c.1162-773_1162-744dupATTAAATATTTAATATTAAATTAATTTA AA		ALOX12	ENSG00000108839.12	transcript	ENST00000251535.11	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8049283	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	69	0.0145	30	c.71 others(39): Show c.718_*719insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding					150		chr17	TogoVar
ALOXE3_chr17_8090900_8123514	8107965	G G	GAAAGAAA others(23): Show GAAAGAAAGAAAGAAAGAAAGAAAAGAGAGA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0032	1	355	0.0028	30	c.168 others(47): Show c.1684+502_1684+503insTCTCTCTTTTCTTTCTTTCTTTCTTTCT TT		ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15						chr17	TogoVar
ALPI_chr2_232451153_232465753	232465431	T T	TTTTTATT others(23): Show TTTTTATTTTATTTTATTTTATTTTATTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0011 a0011	a0011c0007 a0011c0007	a0011c0007t0010 a0011c0007t0010	a0011c0007t0010g0010 a0011c0007t0010g0010	1	175	0.0057	30	c.62 others(41): Show c.6285_*6286insTTTTATTTTATTTTATTTTATTTTATTTTA		ALPI	ENSG00000163295.5	transcript	ENST00000295463.4	protein_coding					4679		chr2	TogoVar
ALPK2_chr18_58476247_58634091	58578733	G G	GACACACA others(23): Show GACACACACACGCGCGCGCGCGCGCACACAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA21309.hp1 HG03130.hp2 NA21309.hp1	a0014 a0019 a0014 a0019	a0014c0022 a0019c0033 a0014c0022 a0019c0033	a0014c0022t0004 a0019c0033t0008 a0014c0022t0004 a0019c0033t0008	a0014c0022t0004g0150 a0019c0033t0008g0160 a0014c0022t0004g0150 a0019c0033t0008g0160	2	150	0.0133	30	c.196 others(45): Show c.1962+80_1962+81insGTGTGTGCGCGCGCGCGCGCGTGTGTGTGT		ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12						chr18	TogoVar
ALPL_chr1_21504423_21583410	21527015	G G	GTTCTTTT others(23): Show GTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01123.hp2 HG01433.hp2 others(7): Show HG01106.hp1 HG01123.hp2 HG01433.hp2 HG02486.hp2 HG02717.hp2 HG02738.hp2 HG02818.hp1 HG02922.hp1 HG03540.hp2 NA21309.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0010c0010	a0001c0001t0001 a0001c0001t0004 a0001c0003t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0005 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0012 a0010c0010t0003	a0001c0001t0001g0107 a0001c0001t0004g0255 a0001c0003t0005g0233 others(7): Show a0001c0001t0001g0107 a0001c0001t0004g0255 a0001c0003t0005g0233 a0002c0002t0003g0172 a0002c0002t0004g0301 a0002c0002t0005g0267 a0002c0002t0005g0275 a0002c0002t0005g0352 a0002c0002t0012g0123 a0010c0010t0003g0017	10	53	0.1887	30	c.-10 others(51): Show c.-105+17500_-105+17529dupTCTTTTCTTTTCTTTTCTTTTCTT TTCTTT		ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ALPP_chr2_232373751_232387889	232385077	G G	GGAAGAAG others(23): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG03491.hp1 HG03492.hp2 others(2): Show HG02132.hp1 HG03491.hp1 HG03492.hp2 NA19079.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0001 a0001c0019t0001 a0001c0001t0001 a0001c0019t0001	a0001c0001t0001g0001 a0001c0019t0001g0019 a0001c0001t0001g0001 a0001c0019t0001g0019	5	264	0.0189	30	c.32 others(41): Show c.3282_*3283insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA		ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding					2189		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(23): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG02083.hp1 HG03704.hp2 others(2): Show HG00323.hp1 HG02083.hp1 HG03704.hp2 NA18940.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0001 a0001c0001t0001g0035	5	224	0.0223	30	c.33 others(41): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGG		ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding					2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(23): Show AAGAAGAAGAAGAAGAAGAAGAAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01109.hp2 NA21309.hp2 HG01071.hp1 HG01109.hp2 NA21309.hp2	a0001 a0025 a0001 a0025	a0001c0001 a0025c0024 a0001c0001 a0025c0024	a0001c0001t0001 a0025c0024t0001 a0001c0001t0001 a0025c0024t0001	a0001c0001t0001g0001 a0025c0024t0001g0001 a0001c0001t0001g0001 a0025c0024t0001g0001	3	222	0.0135	30	c.33 others(41): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGGAGGAGG		ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding					2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(23): Show AAGAAGAAGAAGAAGAAGAAGGAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01243.hp2 HG01255.hp1 others(1): Show HG01069.hp2 HG01243.hp2 HG01255.hp1 NA18982.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0002c0002t0001g0008 a0001c0001t0001g0001 a0002c0002t0001g0008	4	223	0.0179	30	c.33 others(41): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGGAGGAGGAGG		ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding					2227		chr2	TogoVar
AMBN_chr4_70587256_70612288	70589026	T T	TATATATA others(23): Show TATATATACATATATATGCATATATGCATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	478	0.0021	30	c.-33 others(41): Show c.-3333_-3332insATATATACATATATATGCATATATGCATAC		AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding					3229		chr4	TogoVar
AMBRA1_chr11_46391414_46599023	46419995	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01243.hp1 HG03516.hp2 others(2): Show HG01070.hp1 HG01243.hp1 HG03516.hp2 HG03688.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0023 a0001c0001t0001g0049 a0001c0001t0001g0114 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0049 a0001c0001t0001g0114 a0001c0001t0001g0136 a0001c0001t0007g0048	5	14	0.3571	30	c.297 others(49): Show c.2977-1944_2977-1943insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	14/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46585695	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0150 a0001c0002t0002g0150	1	67	0.0149	30	c.-12 others(49): Show c.-121+8132_-121+8133insATATATATATATATATATATATATAT TTTT		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17						chr11	TogoVar
AMDHD1_chr12_95938331_95973720	95954573	T T	TAAATAAA others(23): Show TAAATAAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG04228.hp1 HG02074.hp1 HG04228.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0013 a0001c0002 a0005c0013	a0001c0002t0006 a0005c0013t0006 a0001c0002t0006 a0005c0013t0006	a0001c0002t0006g0050 a0005c0013t0006g0051 a0001c0002t0006g0050 a0005c0013t0006g0051	2	328	0.0061	30	c.245 others(45): Show c.245-329_245-300dupTAAAATAAAATAAAATAAAATAAAATAAAA		AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
AMER3_chr2_130750540_130773134	130758402	A A	AGGAAGGA others(23): Show AGGAAGGAAGGAAGGAGAAAGAAAGAAGGAG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	358	0.0028	30	c.-20 others(47): Show c.-20+2732_-20+2761dupAGGAAGGAAGGAGAAAGAAAGAAGGAGG GA		AMER3	ENSG00000178171.12	transcript	ENST00000321420.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr2	TogoVar
AMFR_chr16_56356452_56430545	56425420	T T	TCGCTGCC others(23): Show TCGCTGCCGCTGCCGCTGCCGCTGCCGCTGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0338 a0001c0001t0049g0338	1	149	0.0067	30	c.-94 others(37): Show c.-94_-93insGCAGCGGCAGCGGCAGCGGCAGCGGCAGCG		AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	1/14				94		chr16	TogoVar
AMIGO1_chr1_109499178_109514727	109503474	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	386	0.0026	30	c.39 others(41): Show c.3956_*3957insTATATATATATATATATATATATATATATA		AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding					703		chr1	TogoVar
AMIGO1_chr1_109499178_109514727	109503476	T T	TCATATAT others(23): Show TCATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	170	0.0059	30	c.39 others(41): Show c.3954_*3955insTATATATATATATATATATATATATATATG		AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding					701		chr1	TogoVar
AMIGO1_chr1_109499178_109514727	109503502	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG03453.hp2 HG02630.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	2	389	0.0051	30	c.39 others(41): Show c.3928_*3929insCATATATATATATATATATATATATATATA		AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding					675		chr1	TogoVar
AMPH_chr7_38378704_38636373	38407021	C C	CCTCTCTC others(23): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02155.hp1 NA18981.hp1 others(2): Show HG01884.hp2 HG02155.hp1 NA18981.hp1 NA18981.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0001t0001 a0001c0001t0004 a0001c0002t0002	a0001c0001t0001g0130 a0001c0001t0004g0087 a0001c0002t0002g0064 others(2): Show a0001c0001t0001g0130 a0001c0001t0004g0087 a0001c0002t0002g0064 a0001c0002t0002g0111 a0001c0002t0002g0265	5	122	0.0410	30	c.139 others(51): Show c.1398+10803_1398+10804insAGAGAGAGAGAGAGAGAGAGAGAG AGAGAG		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20						chr7	TogoVar
AMPH_chr7_38378704_38636373	38407048	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	229	0.0044	30	c.139 others(51): Show c.1398+10776_1398+10777insTAGAGAGAGAGAGAGAGAGAGAGA GAGAGA		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20						chr7	TogoVar
AMPH_chr7_38378704_38636373	38416102	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp2 HG01928.hp1 others(5): Show HG00735.hp1 HG01106.hp2 HG01928.hp1 HG01928.hp2 HG02071.hp2 HG02145.hp1 HG02630.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0161 a0001c0001t0001g0182 a0001c0001t0002g0095 others(5): Show a0001c0001t0001g0161 a0001c0001t0001g0182 a0001c0001t0002g0095 a0001c0001t0003g0098 a0001c0001t0003g0215 a0001c0001t0003g0249 a0001c0001t0004g0012 a0001c0001t0004g0164	8	27	0.2963	30	c.139 others(49): Show c.1398+1722_1398+1723insATATATATATATATATATATATATAT ATAT		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20						chr7	TogoVar
AMPH_chr7_38378704_38636373	38441803	T T	TATATCAT others(23): Show TATATCATATATATCATATATCATATATATC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0089 a0001c0001t0006g0089	1	269	0.0037	30	c.101 others(49): Show c.1018-5416_1018-5415insGATATATATGATATATGATATATATG ATAT		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	11/20						chr7	TogoVar
AMPH_chr7_38378704_38636373	38445010	T T	TATATATA others(23): Show TATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0233 a0001c0007t0005g0233	1	131	0.0076	30	c.101 others(49): Show c.1018-8623_1018-8622insGTGTGTGTGTATATATATATATATAT ATAT		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	11/20						chr7	TogoVar
AMPH_chr7_38378704_38636373	38445010	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02129.hp1 HG03491.hp1 others(2): Show HG00558.hp2 HG02129.hp1 HG03491.hp1 NA18982.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0105 a0001c0001t0001g0120 others(2): Show a0001c0001t0001g0065 a0001c0001t0001g0105 a0001c0001t0001g0120 a0001c0001t0001g0187 a0001c0001t0001g0218	5	135	0.0370	30	c.101 others(49): Show c.1018-8623_1018-8622insGTGTGTGTATATATATATATATATAT ATAT		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	11/20						chr7	TogoVar
AMPH_chr7_38378704_38636373	38570936	T T	TATATTTA others(23): Show TATATTTATATATATAGAATATATATATAGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0250 a0001c0003t0002g0250	1	285	0.0035	30	c.70- others(47): Show c.70-35926_70-35925insTCTATATATATATTCTATATATATAAAT AT		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20						chr7	TogoVar
AMTN_chr4_70513569_70537743	70516388	G G	GTATATAT others(23): Show GTATATATATATATACGTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	370	0.0027	30	c.-22 others(41): Show c.-2282_-2281insTATATATATATATACGTATATATATATATA		AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding					2180		chr4	TogoVar
AMY2A_chr1_103612427_103630780	103623924	T T	TTAATCCA others(23): Show TTAATCCAGACACTACTTGTGGCAATGACTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01069.hp1 HG01069.hp1	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0003 a0006c0014t0001g0003	1	310	0.0032	30	c.116 others(39): Show c.1161_1190dupTAATCCAGACACTACTTGTGGCAATGACTG	p.Asp others(43): Show p.Asp396_Trp397insCysAsnProAspThrThrCysGlyAsnAsp	AMY2A	ENSG00000243480.8	transcript	ENST00000414303.7	protein_coding	8/10	1205/1584	1191/1536	397/511		INFO_REALIGN_3_PRIME	chr1	TogoVar
ANAPC10_chr4_144989576_145103196	145011336	A A	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA18947.hp2 NA19010.hp1 others(2): Show HG04228.hp2 NA18947.hp2 NA19010.hp1 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0272 a0001c0001t0001g0288 others(2): Show a0001c0001t0001g0267 a0001c0001t0001g0272 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0293	5	147	0.0340	30	c.328 others(49): Show c.328-15763_328-15734dupATTTTATTTTATTTTATTTTATTTTA TTTT		ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4						chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145026945	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	108	0.0093	30	c.328 others(49): Show c.328-31343_328-31342insCACACATATATATATATATATATATA TATA		ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4						chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145026945	A A	ATATATAT others(23): Show ATATATATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	108	0.0093	30	c.328 others(49): Show c.328-31343_328-31342insCACACACATATATATATATATATATA TATA		ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4						chr4	TogoVar

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