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
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(21): Show ATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0184 a0001c0001t0009g0184	1	410	0.0024	28	c.68+ others(43): Show c.68+1882_68+1883insAAAAAAAAAAAAAATATATATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(21): Show ATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0039 a0004c0004t0039	a0004c0004t0039g0355 a0004c0004t0039g0355	1	410	0.0024	28	c.68+ others(43): Show c.68+1882_68+1883insAAAAAAAAAAAAAAAATATATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(21): Show ATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0063 a0004c0004t0063	a0004c0004t0063g0353 a0004c0004t0063g0353	1	410	0.0024	28	c.68+ others(43): Show c.68+1882_68+1883insAAAAAAAAAAAAAAAAAATATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(21): Show ATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0042 a0002c0002t0042	a0002c0002t0042g0053 a0002c0002t0042g0053	1	410	0.0024	28	c.68+ others(43): Show c.68+1882_68+1883insAAAAAAAAAAAAAAAAAAAATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYT1L_chr2_1784113_2336275	1866743	C C	CAGAGAGA others(21): Show CAGAGAGAGAGGGAGGGGGAGAGAGGCAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0005 a0001c0017t0005	a0001c0017t0005g0097 a0001c0017t0005g0097	1	104	0.0096	28	c.271 others(49): Show c.2712-15068_2712-15041dupCTGCCTCTCTCCCCCTCCCTCTCT CTCT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	18/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	1934307	T T	TATATATA others(21): Show TATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA20129.hp2 NA19012.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0007 a0001c0009t0006 a0001c0001t0007 a0001c0009t0006	a0001c0001t0007g0029 a0001c0009t0006g0075 a0001c0001t0007g0029 a0001c0009t0006g0075	2	104	0.0192	28	c.505 others(45): Show c.505+8674_505+8675insGTGTATATATATATATATATATATATAT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	9/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2183836	G G	GAAGGAAG others(21): Show GAAGGAAGGAAGGAGAGGAGGGAAGAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0067 a0001c0003t0001g0067	1	104	0.0096	28	c.-42 others(49): Show c.-420-10849_-420-10848insTTTTCTTCCCTCCTCTCCTTCCTT CCTT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2205989	T T	TTTTCTTT others(21): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03209.hp1 HG02647.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0010 a0001c0003t0010 a0001c0001t0010 a0001c0003t0010	a0001c0001t0010g0034 a0001c0003t0010g0096 a0001c0001t0010g0034 a0001c0003t0010g0096	2	104	0.0192	28	c.-42 others(49): Show c.-420-33002_-420-33001insGAAAGAAAAGAAAAGAAAAGAAAA GAAA	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2236816	T T	TCTTCTTC others(21): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0069 a0001c0007t0002g0069	1	104	0.0096	28	c.-42 others(49): Show c.-421+47587_-421+47588insGAAGAAGAAGAAGAAGAAGAAGAA GAAG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2262915	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0101 a0001c0008t0005g0101	1	104	0.0096	28	c.-42 others(49): Show c.-421+21488_-421+21489insATATATATATATATATATATATAT ATAT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2262939	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0031 a0001c0002t0002g0031	1	104	0.0096	28	c.-42 others(49): Show c.-421+21464_-421+21465insATATATATATATATATATATATAT ATAT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2262943	T T	TATATATA others(21): Show TATATATATATATATATTATATATATATA	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0003 a0001c0023t0003	a0001c0023t0003g0057 a0001c0023t0003g0057	1	104	0.0096	28	c.-42 others(49): Show c.-421+21460_-421+21461insTATATATATATAATATATATATAT ATAT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2295565	C C	CAGAGAGA others(21): Show CAGAGAGAGAGAGAGAGACAGACAGACAG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0002 a0001c0019t0002	a0001c0019t0002g0061 a0001c0019t0002g0061	1	104	0.0096	28	c.-52 others(49): Show c.-520-11063_-520-11062insCTGTCTGTCTGTCTCTCTCTCTCT CTCT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	1/24			chr2	TogoVar
MYT1_chr20_64159452_64247253	64220940	C C	CCCCTATG others(21): Show CCCCTATGAAGGGTGGGGGCTGGATCAGG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0154 a0001c0002t0005g0154	1	223	0.0045	28	c.224 others(45): Show c.2242-950_2242-949insTATGAAGGGTGGGGGCTGGATCAGGCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYZAP_chr15_57586904_57690364	57593188	G G	GCATGCGC others(21): Show GCATGCGCGCGCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0159 a0007c0010t0001g0159	1	352	0.0028	28	c.75+ others(43): Show c.75+1081_75+1082insTGCGCGCGCGCACACACACACACACACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57593188	G G	GCATGCGC others(21): Show GCATGCGCGCGCGCGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02970.hp2 NA20805.hp2 HG02922.hp2 HG02970.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181	3	352	0.0085	28	c.75+ others(43): Show c.75+1081_75+1082insTGCGCGCGCGCGCACACACACACACACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57593188	G G	GCATGCGC others(21): Show GCATGCGCGCGCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03209.hp2 HG03471.hp1 others(3): Show HG02717.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp1 HG03492.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0001c0001t0001 a0001c0001t0004 a0001c0003t0001	a0001c0001t0001g0237 a0001c0001t0004g0007 a0001c0001t0004g0245 others(2): Show a0001c0001t0001g0237 a0001c0001t0004g0007 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0003t0001g0238	6	352	0.0171	28	c.75+ others(43): Show c.75+1081_75+1082insTGCGCGCGCGCGCGCACACACACACACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57593188	G G	GCATGCGC others(21): Show GCATGCGCGCGCGCGCGCGCACACACACA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02523.hp1 NA18974.hp2 others(1): Show HG02015.hp1 HG02523.hp1 NA18974.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 others(1): Show a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0004g0276	4	352	0.0114	28	c.75+ others(43): Show c.75+1081_75+1082insTGCGCGCGCGCGCGCGCACACACACACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57593188	G G	GCATGCGC others(21): Show GCATGCGCGCGCGCGCGCGCGCACACACA	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA19077.hp2 HG01099.hp2 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0299 a0002c0004t0001g0298 a0001c0001t0001g0299 a0002c0004t0001g0298	2	352	0.0057	28	c.75+ others(43): Show c.75+1081_75+1082insTGCGCGCGCGCGCGCGCGCACACACACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57593188	G G	GCATGCGC others(21): Show GCATGCGCGCGCGCGCGCGCGCGCACACA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0305 a0001c0001t0002g0305	1	352	0.0028	28	c.75+ others(43): Show c.75+1081_75+1082insTGCGCGCGCGCGCGCGCGCGCACACACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57616822	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02056.hp1 HG02300.hp2 HG01346.hp2 HG02056.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0285 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0285	3	352	0.0085	28	c.163 others(45): Show c.163-1186_163-1185insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57688557	T T	TATATACT others(21): Show TATATACTCTATATGTGTACAATGTGCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02257.hp2 HG02723.hp2 others(1): Show HG02145.hp1 HG02257.hp2 HG02723.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0001 a0001c0003t0003	a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0003t0001g0114 others(1): Show a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0003t0001g0114 a0001c0003t0003g0144	4	352	0.0114	28	c.40 others(39): Show c.4059_*4060insATATACTCTATATGTGTACAATGTGCAC	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		3194		chr15	TogoVar
MYZAP_chr15_57586904_57690364	57688848	C C	CTACAGAA others(21): Show CTACAGAATATATGTATTCAATGTACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0111 a0001c0003t0014g0111	1	352	0.0028	28	c.43 others(39): Show c.4350_*4351insTACAGAATATATGTATTCAATGTACACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		3485		chr15	TogoVar
MYZAP_chr15_57586904_57690364	57688893	T T	TCAATGTA others(21): Show TCAATGTACACATACAGAATATATGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01358.hp2 HG01175.hp2 HG01358.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0008 a0001c0003 a0004c0008	a0001c0003t0002 a0004c0008t0003 a0001c0003t0002 a0004c0008t0003	a0001c0003t0002g0033 a0004c0008t0003g0134 a0001c0003t0002g0033 a0004c0008t0003g0134	2	352	0.0057	28	c.43 others(39): Show c.4395_*4396insCAATGTACACATACAGAATATATGTGTA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		3530		chr15	TogoVar
MYZAP_chr15_57586904_57690364	57688980	A A	ATGTACAC others(21): Show ATGTACACATACAGAATATATGTGTACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 NA18906.hp1 HG02109.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0245 a0001c0001t0007g0333 a0001c0001t0004g0245 a0001c0001t0007g0333	2	352	0.0057	28	c.44 others(39): Show c.4482_*4483insTGTACACATACAGAATATATGTGTACAT	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		3617		chr15	TogoVar
MYZAP_chr15_57586904_57690364	57688996	T T	TATATATG others(21): Show TATATATGTGTACAATATACACATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0111 a0001c0003t0014g0111	1	352	0.0028	28	c.44 others(39): Show c.4498_*4499insATATATGTGTACAATATACACATATATA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		3633		chr15	TogoVar
MZT1_chr13_72703367_72732629	72724752	A A	ATATATAT others(21): Show ATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0038 a0001c0001t0005g0038	2	384	0.0052	28	c.79+ others(43): Show c.79+2771_79+2772insCACACATATATATATATATATATATATA	MZT1	ENSG00000204899.6	transcript	ENST00000377818.4	protein_coding	1/2			chr13	TogoVar
N4BP2L2_chr13_32505292_32543795	32540970	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03471.hp1 HG03098.hp1 HG03471.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0013 a0003c0004t0013	a0003c0004t0013g0268 a0003c0004t0013g0276 a0003c0004t0013g0268 a0003c0004t0013g0276	2	394	0.0051	28	c.-23 others(39): Show c.-2354_-2353insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	N4BP2L2	ENSG00000244754.9	transcript	ENST00000267068.6	protein_coding		2176		chr13	TogoVar
N6AMT1_chr21_28867191_28890367	28877259	G G	GGGAAGGA others(21): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp1 HG01515.hp2 others(3): Show HG00280.hp1 HG01070.hp1 HG01515.hp2 HG03017.hp2 HG04228.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0034 a0001c0001t0001 a0001c0001t0034	a0001c0001t0001g0017 a0001c0001t0001g0089 a0001c0001t0034g0115 a0001c0001t0001g0017 a0001c0001t0001g0089 a0001c0001t0034g0115	6	422	0.0142	28	c.539 others(43): Show c.539-796_539-769dupTTCCTTCCTTCCTTCCTTCCTTCCTTCC	N6AMT1	ENSG00000156239.12	transcript	ENST00000303775.10	protein_coding	5/5			chr21	TogoVar
NAA15_chr4_139296505_139396384	139315006	T T	TTTAGTTA others(21): Show TTTAGTTAGTTAGGTTAGGTTAGGTTAGG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	334	0.0030	28	c.54+ others(45): Show c.54+13179_54+13180insTTAGTTAGGTTAGGTTAGGTTAGGTTAG	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAA15_chr4_139296505_139396384	139385283	A A	AATATATA others(21): Show AATATATATATATATATATAATATATATT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0177 a0001c0001t0003g0177	1	334	0.0030	28	c.230 others(45): Show c.2302+322_2302+323insTAATATATATTATATATATATATATATA	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAA50_chr3_113711458_113751249	113733853	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0198 a0001c0001t0012g0198	1	400	0.0025	28	c.9-9 others(41): Show c.9-9759_9-9758insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NAA50	ENSG00000121579.14	transcript	ENST00000240922.8	protein_coding	1/4			chr3	TogoVar
NAA80_chr3_50291402_50304405	50304296	A A	AAAAAAAA others(21): Show AAAAAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	28	c.-52 others(39): Show c.-5294_-5293insATATATATATATATATATTTTTTTTTTT	NAA80	ENSG00000243477.6	transcript	ENST00000443094.3	protein_coding		4892		chr3	TogoVar
NAALAD2_chr11_90129663_90197894	90154934	C C	CATATGTA others(21): Show CATATGTATATATTATATACGTATACATA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0089 a0001c0001t0003g0089	1	364	0.0028	28	c.796 others(45): Show c.796+2487_796+2514dupATATTATATACGTATACATAATATGTAT	NAALAD2	ENSG00000077616.11	transcript	ENST00000534061.6	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAALAD2_chr11_90129663_90197894	90155437	A A	ATAATATG others(21): Show ATAATATGTAATATTACATATTATACATG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02723.hp1 HG02886.hp2 others(4): Show HG02615.hp2 HG02723.hp1 HG02886.hp2 HG02895.hp2 HG02965.hp1 HG03453.hp1 HG03540.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0004 a0004c0005t0005 others(1): Show a0004c0005t0001 a0004c0005t0004 a0004c0005t0005 a0004c0005t0014	a0004c0005t0001g0261 a0004c0005t0001g0266 a0004c0005t0004g0262 others(4): Show a0004c0005t0001g0261 a0004c0005t0001g0266 a0004c0005t0004g0262 a0004c0005t0004g0263 a0004c0005t0004g0264 a0004c0005t0005g0260 a0004c0005t0014g0265	7	364	0.0192	28	c.797 others(45): Show c.797-2702_797-2701insGTAATATTACATATTATACATGTAATAT	NAALAD2	ENSG00000077616.11	transcript	ENST00000534061.6	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAALADL2_chr3_174854334_175815548	175013144	A A	ATACATAA others(21): Show ATACATAAATATATAATATATAGTTATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0038 a0002c0007t0038	a0002c0007t0038g0063 a0002c0007t0038g0063	1	64	0.0156	28	c.44- others(45): Show c.44-83646_44-83645insTACATAAATATATAATATATAGTTATAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13			chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175119692	T T	TATAGATA others(21): Show TATAGATATAGATATAGATATAGATATAG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0021 a0004c0002t0021	a0004c0002t0021g0003 a0004c0002t0021g0003	1	64	0.0156	28	c.545 others(47): Show c.545+22404_545+22405insGATATAGATATAGATATAGATATAGA TA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175206244	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0026 a0004c0002t0026	a0004c0002t0026g0011 a0004c0002t0026g0011	1	64	0.0156	28	c.546 others(47): Show c.546-27668_546-27667insATATATATATATATATATATATATAT AT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175463701	G G	GGAGAGAG others(21): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0006 a0004c0002t0006	a0004c0002t0006g0039 a0004c0002t0006g0039	1	64	0.0156	28	c.132 others(45): Show c.1327+216_1327+243dupAGAGAGAGAGAGAGAGAGAGAGAGAGAG	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175495073	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0017 a0008c0019t0017	a0008c0019t0017g0004 a0008c0019t0017g0004	1	64	0.0156	28	c.165 others(49): Show c.1653+23335_1653+23336insATATATATATATATATATATATAT ATAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175697837	T T	TTATGTAT others(21): Show TTATGTATACATATATATGTGTATATATG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0014 a0003c0004t0014	a0003c0004t0014g0058 a0003c0004t0014g0058	1	64	0.0156	28	c.189 others(49): Show c.1897-39015_1897-38988dupATACATATATATGTGTATATATGT ATGT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175697837	T T	TTATGTAT others(21): Show TTATGTATACATATATATGTGTATTTATG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0023 a0003c0005t0023	a0003c0005t0023g0045 a0003c0005t0023g0045	1	64	0.0156	28	c.189 others(49): Show c.1897-39446_1897-39445insTTATGTATGTATACATATATATGT GTAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175698483	T T	TTTTATAT others(21): Show TTTTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03130.hp2 NA18522.hp2 HG01261.hp1 HG03130.hp2 NA18522.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0002 a0007c0012 a0001c0001 a0004c0002 a0007c0012	a0001c0001t0002 a0004c0002t0002 a0007c0012t0003 a0001c0001t0002 a0004c0002t0002 a0007c0012t0003	a0001c0001t0002g0032 a0004c0002t0002g0048 a0007c0012t0003g0033 a0001c0001t0002g0032 a0004c0002t0002g0048 a0007c0012t0003g0033	3	64	0.0469	28	c.189 others(49): Show c.1897-38822_1897-38821insTTATATATATATATATATATATAT ATAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAB1_chr2_190644083_190697766	190688792	C C	CTTCCTTT others(21): Show CTTCCTTTCTTCCTTTCTTTCCTTCTTCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0093 a0001c0001t0008g0093	1	374	0.0027	28	c.137 others(47): Show c.1376-1443_1376-1442insCCTTTCTTTCCTTCTTCTTTCCTTTC TT	NAB1	ENSG00000138386.17	transcript	ENST00000337386.10	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
NADK2_chr5_36187589_36246925	36213618	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01071.hp2 HG02083.hp1 others(13): Show HG00597.hp2 HG01071.hp2 HG02083.hp1 HG02293.hp2 HG02572.hp2 HG02976.hp2 HG03490.hp2 HG03491.hp1 HG03834.hp2 HG04184.hp2 NA18979.hp2 NA19012.hp1 NA19054.hp1 NA19065.hp1 NA19068.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0020 a0001c0001t0038 a0001c0001t0043 a0001c0002t0032	a0001c0001t0003g0039 a0001c0001t0003g0042 a0001c0001t0003g0197 others(11): Show a0001c0001t0003g0039 a0001c0001t0003g0042 a0001c0001t0003g0197 a0001c0001t0003g0205 a0001c0001t0003g0207 a0001c0001t0003g0219 a0001c0001t0004g0256 a0001c0001t0006g0273 a0001c0001t0006g0281 a0001c0001t0011g0235 a0001c0001t0020g0284 a0001c0001t0038g0148 a0001c0001t0043g0218 a0001c0002t0032g0104	16	384	0.0417	28	c.782 others(45): Show c.782-1697_782-1696insATATATATATATATATATATATATATAT	NADK2	ENSG00000152620.13	transcript	ENST00000381937.9	protein_coding	6/11			chr5	TogoVar
NAGPA_chr16_5019844_5038935	5021504	C C	CCCATTGC others(21): Show CCCATTGCCAAAGAGTCCTTGAAAGCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	442	0.0023	28	c.39 others(39): Show c.3973_*3974insTGGGCTTTCAAGGACTCTTTGGCAATGG	NAGPA	ENSG00000103174.13	transcript	ENST00000312251.8	protein_coding		3339		chr16	TogoVar
NALCN_chr13_101048776_101421508	101269211	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0075 a0001c0004t0001g0075	1	176	0.0057	28	c.113 others(49): Show c.1135-10665_1135-10638dupATATATATATATATATATATATAT ATAT	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	10/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101300363	T T	TTTCCTTC others(21): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01496.hp2 HG02132.hp1 others(9): Show HG01192.hp2 HG01496.hp2 HG02132.hp1 HG02300.hp2 HG02809.hp1 HG02809.hp2 HG02965.hp2 NA18943.hp2 NA18957.hp1 NA18983.hp2 NA19043.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0002t0002 a0001c0003t0001 a0001c0004t0009 a0001c0005t0003 a0001c0006t0004 a0001c0019t0001	a0001c0001t0001g0011 a0001c0001t0003g0168 a0001c0001t0006g0032 others(9): Show a0001c0001t0001g0011 a0001c0001t0003g0168 a0001c0001t0006g0032 a0001c0001t0006g0109 a0001c0001t0006g0113 a0001c0002t0002g0108 a0001c0002t0002g0119 a0001c0003t0001g0110 a0001c0004t0009g0157 a0001c0005t0003g0057 a0001c0006t0004g0174 a0001c0019t0001g0006	12	176	0.0682	28	c.800 others(45): Show c.800-7998_800-7997insGGAAGGAAGGAAGGAAGGAAGGAAGGAA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	7/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101345737	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02132.hp1 HG03130.hp2 HG00099.hp2 HG02132.hp1 HG03130.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0003c0016 a0001c0002 a0001c0003 a0003c0016	a0001c0002t0002 a0001c0003t0001 a0003c0016t0001 a0001c0002t0002 a0001c0003t0001 a0003c0016t0001	a0001c0002t0002g0108 a0001c0003t0001g0158 a0003c0016t0001g0166 a0001c0002t0002g0108 a0001c0003t0001g0158 a0003c0016t0001g0166	3	176	0.0171	28	c.645 others(43): Show c.645-345_645-318dupATATATATATATATATATATATATATAT	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	6/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101346087	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0074 a0001c0007t0002g0074	1	176	0.0057	28	c.645 others(43): Show c.645-668_645-667insTATATATATATATATATAGAGAGAGAGA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	6/43			chr13	TogoVar

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