Joint Open Genome and Omics Platform (JoGo)

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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
MYOM3_chr1_24051041_24117135	24113430	T T	TTTCTTTC others(27): Show TTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG02809.hp1 HG02886.hp1 HG01106.hp1 HG02809.hp1 HG02886.hp1	a0013 a0013	a0013c0024 a0013c0024	a0013c0024t0003 a0013c0024t0003	a0013c0024t0003g0341 a0013c0024t0003g0342 a0013c0024t0003g0343 a0013c0024t0003g0341 a0013c0024t0003g0342 a0013c0024t0003g0343	3	359	0.0084	34	c.-14 others(45): Show c.-1419_-1418insGGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAA	MYOM3	ENSG00000142661.19	transcript	ENST00000374434.4	protein_coding		1296		chr1	TogoVar
MYRIP_chr3_39804609_40265321	40192313	T T	TATATATG others(27): Show TATATATGACATATATATATATATATATATATGTC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	112	0.0089	34	c.166 others(53): Show c.1665+1856_1665+1857insGACATATATATATATATATATATATG TCATATAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40192315	T T	TATATGAC others(27): Show TATATGACATATATATATATATATATATATATGTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02647.hp1 NA20300.hp1 HG02486.hp1 HG02647.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0003 a0001c0020t0004 a0001c0001t0003 a0001c0020t0004	a0001c0001t0003g0046 a0001c0001t0003g0153 a0001c0020t0004g0139 a0001c0001t0003g0046 a0001c0001t0003g0153 a0001c0020t0004g0139	3	101	0.0297	34	c.166 others(53): Show c.1665+1856_1665+1857insGACATATATATATATATATATATATA TGTCATAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYSM1_chr1_58649743_58705062	58651407	A A	AGTGTGTG others(27): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG03486.hp1 NA18949.hp2 others(1): Show HG00408.hp1 HG03486.hp1 NA18949.hp2 NA19062.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0001 a0003c0003t0003 a0004c0004t0012 a0001c0001t0001 a0003c0003t0003 a0004c0004t0012	a0001c0001t0001g0139 a0001c0001t0001g0150 a0003c0003t0003g0001 others(1): Show a0001c0001t0001g0139 a0001c0001t0001g0150 a0003c0003t0003g0001 a0004c0004t0012g0322	4	54	0.0741	34	c.85 others(45): Show c.8589_*8590insACACACACACACACACACACACACACACACACAC	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding		3335		chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698100	A A	ATATATAT others(27): Show ATATATATATATATATATATATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0040 a0001c0001t0019g0040	1	402	0.0025	34	c.68+ others(49): Show c.68+1884_68+1885insAATAAATAAATAAATATATATATATATATA TATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0045 a0001c0001t0037g0045	1	36	0.0278	34	c.68+ others(49): Show c.68+1882_68+1883insAAAAAAAATATATATATATATATATATATA TATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(27): Show ATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18959.hp2 HG03942.hp2 NA18959.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0124 a0002c0002t0002g0002 a0002c0002t0002g0124	2	37	0.0541	34	c.68+ others(49): Show c.68+1882_68+1883insAAAAAAAAAAAAAATATATATATATATATA TATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(27): Show ATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0066 a0004c0004t0066	a0004c0004t0066g0048 a0004c0004t0066g0048	1	36	0.0278	34	c.68+ others(49): Show c.68+1882_68+1883insAAAAAAAAAAAAAAAATATATATATATATA TATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(27): Show ATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00639.hp1 others(5): Show HG00099.hp1 HG00423.hp1 HG00639.hp1 HG01106.hp2 HG02698.hp2 HG02965.hp2 NA18982.hp2 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0073 others(1): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0073 a0002c0002t0076	a0002c0002t0002g0079 a0002c0002t0002g0085 a0002c0002t0002g0096 others(5): Show a0002c0002t0002g0079 a0002c0002t0002g0085 a0002c0002t0002g0096 a0002c0002t0005g0016 a0002c0002t0005g0017 a0002c0002t0005g0098 a0002c0002t0073g0089 a0002c0002t0076g0064	8	43	0.1860	34	c.68+ others(49): Show c.68+1882_68+1883insAAAAAAAAAAAAAAAAAATATATATATATA TATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(27): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02135.hp1 NA18962.hp1 HG00438.hp1 HG02135.hp1 NA18962.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0014 a0002c0002t0002 a0002c0002t0014	a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0014g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0014g0067	3	38	0.0789	34	c.68+ others(49): Show c.68+1882_68+1883insAAAAAAAAAAAAAAAAAAAATATATATATA TATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYT1L_chr2_1784113_2336275	1934307	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA18945.hp1 NA19055.hp2 others(1): Show HG01109.hp2 NA18945.hp1 NA19055.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0008 a0001c0007t0003 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0007t0003 a0001c0007t0005	a0001c0001t0001g0049 a0001c0001t0008g0009 a0001c0007t0003g0003 others(1): Show a0001c0001t0001g0049 a0001c0001t0008g0009 a0001c0007t0003g0003 a0001c0007t0005g0080	4	78	0.0513	34	c.505 others(51): Show c.505+8674_505+8675insGTGTATATATATATATATATATATATAT ATATAT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	9/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2262915	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02257.hp1 HG03041.hp1 others(1): Show HG01109.hp2 HG02257.hp1 HG03041.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0001c0016	a0001c0001t0001 a0001c0002t0001 a0001c0007t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0007t0003 a0001c0016t0002	a0001c0001t0001g0050 a0001c0002t0001g0046 a0001c0007t0003g0003 others(1): Show a0001c0001t0001g0050 a0001c0002t0001g0046 a0001c0007t0003g0003 a0001c0016t0002g0016	4	86	0.0465	34	c.-42 others(55): Show c.-421+21488_-421+21489insATATATATATATATATATATATAT ATATATATAT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
MYT1_chr20_64159452_64247253	64202018	C C	CGCGTGTC others(27): Show CGCGTGTCGGGAACCCCCGCGTGTCGGGAACCTCT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02965.hp2 HG03098.hp1 others(3): Show HG02486.hp1 HG02965.hp2 HG03098.hp1 NA18522.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0008 a0001c0002t0002 a0001c0001t0002 a0001c0001t0008 a0001c0002t0002	a0001c0001t0002g0153 a0001c0001t0008g0063 a0001c0002t0002g0003 others(2): Show a0001c0001t0002g0153 a0001c0001t0008g0063 a0001c0002t0002g0003 a0001c0002t0002g0015 a0001c0002t0002g0048	6	199	0.0302	34	c.86+ others(49): Show c.86+2113_86+2146dupCGCGTGTCGGGAACCTCTGCGTGTCGGGAA CCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64202057	G G	GTCGGGAA others(27): Show GTCGGGAACCCCCGCGTGTCGGGAACCTCTGCGTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp2 HG01106.hp2 others(11): Show HG00280.hp1 HG00735.hp2 HG01106.hp2 HG01175.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG02683.hp2 HG03704.hp1 HG03834.hp2 HG04228.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0002t0018 a0001c0003t0007 others(1): Show a0001c0002t0002 a0001c0002t0018 a0001c0003t0007 a0001c0003t0010	a0001c0002t0002g0001 a0001c0002t0002g0036 a0001c0002t0002g0041 others(9): Show a0001c0002t0002g0001 a0001c0002t0002g0036 a0001c0002t0002g0041 a0001c0002t0002g0047 a0001c0002t0002g0081 a0001c0002t0002g0099 a0001c0002t0002g0107 a0001c0002t0002g0138 a0001c0002t0002g0147 a0001c0002t0018g0040 a0001c0003t0007g0197 a0001c0003t0010g0126	14	222	0.0631	34	c.86+ others(49): Show c.86+2146_86+2147insCGCGTGTCGGGAACCTCTGCGTTTCGGGAA CCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYZAP_chr15_57586904_57690364	57593188	G G	GCATGCGC others(27): Show GCATGCGCGCGCGCGCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA19004.hp1 HG01074.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0167 a0001c0003t0001g0171 a0001c0001t0001g0167 a0001c0003t0001g0171	2	32	0.0625	34	c.75+ others(49): Show c.75+1081_75+1082insTGCGCGCGCGCGCACACACACACACACACA CACA	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(27): Show GCATGCGCGCGCGCGCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01167.hp1 HG01169.hp1 others(9): Show HG00558.hp2 HG01167.hp1 HG01169.hp1 HG02145.hp1 HG02683.hp2 HG02723.hp2 HG02738.hp2 NA18522.hp1 NA18953.hp2 NA18964.hp1 NA18974.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0206 others(9): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0342	12	42	0.2857	34	c.75+ others(49): Show c.75+1081_75+1082insTGCGCGCGCGCGCGCACACACACACACACA CACA	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(27): Show GCATGCGCGCGCGCGCGCACACGCACACACACACA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03017.hp2 HG02698.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0246 a0001c0001t0001g0247	2	32	0.0625	34	c.75+ others(49): Show c.75+1081_75+1082insTGCGCGCGCGCGCGCACACGCACACACACA CACA	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(27): Show GCATGCGCGCGCGCGCGCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	31	0.0323	34	c.75+ others(49): Show c.75+1081_75+1082insTGCGCGCGCGCGCGCGCACACACACACACA CACA	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(27): Show GCATGCGCGCGCGCGCGCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0302	1	31	0.0323	34	c.75+ others(49): Show c.75+1081_75+1082insTGCGCGCGCGCGCGCGCGCGCACACACACA CACA	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(27): Show GCATGCGCGCGCGCGCGCGCGCGCGCACACACACA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0305 a0002c0004t0005g0305	1	31	0.0323	34	c.75+ others(49): Show c.75+1081_75+1082insTGCGCGCGCGCGCGCGCGCGCGCACACACA CACA	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(27): Show GCATGCGCGCGCGCGCGCGCGCGCGCGCACACACA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01081.hp1 HG02486.hp2 others(2): Show HG00642.hp1 HG01081.hp1 HG02486.hp2 HG03710.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 others(2): Show a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317	5	35	0.1429	34	c.75+ others(49): Show c.75+1081_75+1082insTGCGCGCGCGCGCGCGCGCGCGCGCACACA CACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
N4BP2L2_chr13_32505292_32543795	32540970	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0013 a0003c0004t0013	a0003c0004t0013g0277 a0003c0004t0013g0277	1	103	0.0097	34	c.-23 others(45): Show c.-2354_-2353insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	N4BP2L2	ENSG00000244754.9	transcript	ENST00000267068.6	protein_coding		2176		chr13	TogoVar
NAA11_chr4_79311647_79331061	79314641	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	113	0.0088	34	c.31 others(45): Show c.3162_*3163insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NAA11	ENSG00000156269.5	transcript	ENST00000286794.5	protein_coding		2005		chr4	TogoVar
NAALAD2_chr11_90129663_90197894	90155854	T T	TTATATTA others(27): Show TTATATTATATATAATATGTAATGTATATGTAATA	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA19079.hp1 HG02698.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0092 a0001c0001t0003g0082 a0001c0001t0003g0092	2	362	0.0055	34	c.797 others(51): Show c.797-2278_797-2245dupAATATGTAATGTATATGTAATATATATT ATATAT	NAALAD2	ENSG00000077616.11	transcript	ENST00000534061.6	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAALADL2_chr3_174854334_175815548	175181717	G G	GTGTGTAT others(27): Show GTGTGTATATGCATATATATGTGTATATATATGTA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03225.hp1 HG02258.hp1 HG03225.hp1	a0003 a0012 a0003 a0012	a0003c0005 a0012c0017 a0003c0005 a0012c0017	a0003c0005t0020 a0012c0017t0006 a0003c0005t0020 a0012c0017t0006	a0003c0005t0020g0045 a0012c0017t0006g0025 a0003c0005t0020g0045 a0012c0017t0006g0025	2	44	0.0455	34	c.546 others(53): Show c.546-52213_546-52212insGTGTATATGCATATATATGTGTATAT ATATGTAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAB1_chr2_190644083_190697766	190690012	C C	CTATACAT others(27): Show CTATACATATATGTATAGTATACATATATGTATAG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03239.hp1 HG01074.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0179 a0001c0001t0004g0180	2	19	0.1053	34	c.137 others(51): Show c.1376-217_1376-216insGTATACATATATGTATAGTATACATATA TGTATA	NAB1	ENSG00000138386.17	transcript	ENST00000337386.10	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
NABP1_chr2_191673136_191691943	191690439	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	53	0.0189	34	c.46 others(45): Show c.4671_*4672insTATATATATATATATATATATATATATTTTTTTT	NABP1	ENSG00000173559.15	transcript	ENST00000425611.9	protein_coding		3497		chr2	TogoVar
NADK2_chr5_36187589_36246925	36213618	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	103	0.0097	34	c.782 others(51): Show c.782-1697_782-1696insATATATATATATATATATATATATATAT ATATAT	NADK2	ENSG00000152620.13	transcript	ENST00000381937.9	protein_coding	6/11			chr5	TogoVar
NALCN_chr13_101048776_101421508	101177409	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0009 a0001c0006t0003g0009	1	88	0.0114	34	c.176 others(53): Show c.1765-1036_1765-1035insTATATATATATATATATATATATATA TATATATA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	14/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101345737	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp2 NA18943.hp1 HG01993.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0001 a0001c0001t0006 a0001c0003t0001	a0001c0001t0006g0058 a0001c0003t0001g0112 a0001c0001t0006g0058 a0001c0003t0001g0112	2	32	0.0625	34	c.645 others(49): Show c.645-351_645-318dupATATATATATATATATATATATATATATAT ATAT	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	6/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101346087	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0081 a0001c0007t0002g0081	1	55	0.0182	34	c.645 others(49): Show c.645-668_645-667insTATATATATATATATATATATAGAGAGAGA GAGA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	6/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101415228	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0026 a0001c0002t0002g0026	1	110	0.0091	34	c.-40 others(51): Show c.-40+1084_-40+1085insGTATGTATATATATATATATATATATAT ATATAT	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	1/43			chr13	TogoVar
NALF1_chr13_107158510_107872496	107586635	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0070 a0001c0002t0004g0070	1	2	0.5000	34	c.915 others(55): Show c.915+279046_915+279047insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107638201	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02895.hp1 HG02615.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0034 a0001c0001t0006 a0001c0002t0034	a0001c0001t0006g0112 a0001c0002t0034g0022 a0001c0001t0006g0112 a0001c0002t0034g0022	2	51	0.0392	34	c.915 others(55): Show c.915+227480_915+227481insCATACATATATATATATATATATA TATATATATA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NAMPT_chr7_106243298_106289983	106267840	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	33	0.0303	34	c.743 others(49): Show c.743+590_743+623dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	NAMPT	ENSG00000105835.13	transcript	ENST00000222553.8	protein_coding	6/10			chr7	TogoVar
NAP1L4_chr11_2939437_2997329	2995718	T T	TTGTAGGG others(27): Show TTGTAGGGATTTGAGAGGTAGGGCACGGGGTCGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	334	0.0030	34	c.-34 others(45): Show c.-3483_-3482insTACGACCCCGTGCCCTACCTCTCAAATCCCTACA	NAP1L4	ENSG00000205531.14	transcript	ENST00000380542.9	protein_coding		3390		chr11	TogoVar
NAP1L5_chr4_88690913_88702829	88699189	C C	CCCACCCA others(27): Show CCCACCCACCCAGCCCCACCCCACTCATCGACCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG02055.hp1 HG02559.hp1 others(2): Show HG01167.hp1 HG02055.hp1 HG02559.hp1 HG02717.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0002g0000 a0001c0001t0004g0000	5	411	0.0122	34	c.-14 others(45): Show c.-1436_-1435insTGGGTCGATGAGTGGGGTGGGGCTGGGTGGGTGG	NAP1L5	ENSG00000177432.8	transcript	ENST00000323061.7	protein_coding		1361		chr4	TogoVar
NAPEPLD_chr7_103094776_103154099	103099575	C C	CGTGTGTG others(27): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01358.hp1 HG01934.hp1 others(44): Show HG01261.hp1 HG01358.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG02056.hp2 HG02071.hp1 HG02165.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02572.hp2 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG03041.hp2 HG03139.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 NA18747.hp1 NA18957.hp1 NA18961.hp2 NA18966.hp2 NA18973.hp1 NA18975.hp1 NA18983.hp2 NA18985.hp2 NA18989.hp2 NA18993.hp1 NA18998.hp1 NA19006.hp1 NA19011.hp1 NA19056.hp1 NA19064.hp1 NA19067.hp1 NA19077.hp2 NA19081.hp2 NA19090.hp1 NA19240.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0002c0002t0001 a0002c0002t0004 a0002c0002t0006	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0070 others(38): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0017 a0001c0001t0002g0026 a0001c0001t0002g0032 a0001c0001t0002g0036 a0001c0001t0002g0049 a0001c0001t0002g0096 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0150 a0001c0001t0004g0179 a0001c0001t0005g0031 a0001c0001t0005g0093 a0001c0001t0006g0307 a0001c0001t0010g0030 a0001c0001t0010g0319 a0002c0002t0001g0019 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0207 a0002c0002t0001g0232 a0002c0002t0001g0234 a0002c0002t0004g0056 a0002c0002t0004g0158 a0002c0002t0004g0231 a0002c0002t0004g0242 a0002c0002t0006g0309	47	104	0.4519	34	c.38 others(45): Show c.3853_*3854insACACACACACACACACACACACACACACACACAC	NAPEPLD	ENSG00000161048.12	transcript	ENST00000465647.6	protein_coding		200		chr7	TogoVar
NARS2_chr11_78430968_78579864	78570785	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAGATAAGAAATAAAAGAAGAAAAA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0269 a0002c0002t0002g0269	1	292	0.0034	34	c.251 others(49): Show c.251+549_251+550insTTTTTCTTCTTTTATTTCTTATCTTTTTTT TTTT	NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding	2/13			chr11	TogoVar
NASP_chr1_45579041_45623893	45587687	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01361.hp2 NA18906.hp1 others(1): Show HG01069.hp1 HG01361.hp2 NA18906.hp1 NA18969.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0002c0004t0001 a0001c0001t0001 a0001c0002t0001 a0002c0004t0001	a0001c0001t0001g0159 a0001c0002t0001g0227 a0001c0002t0001g0228 others(1): Show a0001c0001t0001g0159 a0001c0002t0001g0227 a0001c0002t0001g0228 a0002c0004t0001g0183	4	11	0.3636	34	c.59+ others(49): Show c.59+3483_59+3484insTATATATATATATATATATATATATATATA TAAA	NASP	ENSG00000132780.17	transcript	ENST00000350030.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAT10_chr11_34100629_34151908	34103735	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	42	0.0238	34	c.-20 others(45): Show c.-2073_-2072insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NAT10	ENSG00000135372.10	transcript	ENST00000257829.8	protein_coding		1893		chr11	TogoVar
NAT8_chr2_73635723_73647422	73643813	G G	GGTGTGTG others(27): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	301	0.0033	34	c.-15 others(45): Show c.-1571_-1570insACACACACACACACACACACACACACACACACAC	NAT8	ENSG00000144035.4	transcript	ENST00000272425.4	protein_coding		1392		chr2	TogoVar
NAV1_chr1_201534127_201831969	201802136	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19090.hp2 NA19011.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0038 a0001c0001t0002 a0001c0001t0038	a0001c0001t0002g0016 a0001c0001t0038g0152 a0001c0001t0002g0016 a0001c0001t0038g0152	2	128	0.0156	34	c.437 others(53): Show c.4379-1438_4379-1437insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	19/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV2_chr11_19707837_20126601	19897883	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp2 HG03225.hp2 HG01243.hp1 HG02451.hp2 HG03225.hp2	a0001 a0004 a0001 a0004	a0001c0007 a0004c0006 a0004c0063 a0001c0007 a0004c0006 a0004c0063	a0001c0007t0007 a0004c0006t0008 a0004c0063t0005 a0001c0007t0007 a0004c0006t0008 a0004c0063t0005	a0001c0007t0007g0088 a0004c0006t0008g0160 a0004c0063t0005g0006 a0001c0007t0007g0088 a0004c0006t0008g0160 a0004c0063t0005g0006	3	161	0.0186	34	c.931 others(51): Show c.931+5291_931+5292insATATATATATATATATATATATATATAT ATATAT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	6/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	19897886	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02572.hp1 NA18964.hp2 HG02083.hp2 HG02572.hp1 NA18964.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0019 a0002c0011 a0007c0114 a0001c0019 a0002c0011 a0007c0114	a0001c0019t0049 a0002c0011t0006 a0007c0114t0002 a0001c0019t0049 a0002c0011t0006 a0007c0114t0002	a0001c0019t0049g0142 a0002c0011t0006g0096 a0007c0114t0002g0105 a0001c0019t0049g0142 a0002c0011t0006g0096 a0007c0114t0002g0105	3	91	0.0330	34	c.931 others(51): Show c.931+5311_931+5312insATATATATATATATATATATATATATAT ATATAT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	6/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV3_chr12_77825894_78218010	78091795	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0008 a0008	a0008c0028 a0008c0028	a0008c0028t0032 a0008c0028t0032	a0008c0028t0032g0008 a0008c0028t0032g0008	1	2	0.5000	34	c.263 others(55): Show c.2637-24959_2637-24958insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	12/39		INFO_REALIGN_3_PRIME	chr12	TogoVar
NAV3_chr12_77825894_78218010	78154289	C C	CTATATAT others(27): Show CTATATATTACTATATATTACTATATAATATATAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp1 HG02080.hp1 others(15): Show HG00280.hp2 HG00621.hp1 HG02080.hp1 HG02109.hp1 HG02293.hp2 HG02451.hp2 HG03130.hp1 HG03704.hp1 HG04184.hp2 HG04228.hp1 NA18973.hp1 NA18974.hp1 NA18978.hp2 NA18979.hp1 NA18990.hp1 NA19074.hp2 NA19084.hp1 NA19085.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0004 a0001c0007 others(6): Show a0001c0001 a0001c0004 a0001c0007 a0001c0019 a0001c0020 a0001c0045 a0001c0054 a0002c0029 a0006c0040	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0059 a0001c0004t0001 a0001c0004t0006 a0001c0004t0010 a0001c0004t0040 a0001c0007t0025 a0001c0019t0006 a0001c0019t0058 a0001c0020t0002 a0001c0020t0011 a0001c0045t0003 a0001c0054t0002 a0002c0029t0029 a0006c0040t0007	a0001c0001t0001g0029 a0001c0001t0001g0128 a0001c0001t0002g0170 others(15): Show a0001c0001t0001g0029 a0001c0001t0001g0128 a0001c0001t0002g0170 a0001c0001t0004g0038 a0001c0001t0059g0067 a0001c0004t0001g0064 a0001c0004t0006g0085 a0001c0004t0010g0063 a0001c0004t0040g0059 a0001c0007t0025g0035 a0001c0019t0006g0091 a0001c0019t0058g0180 a0001c0020t0002g0099 a0001c0020t0011g0070 a0001c0045t0003g0136 a0001c0054t0002g0138 a0002c0029t0029g0004 a0006c0040t0007g0049	18	119	0.1513	34	c.478 others(53): Show c.4786-4898_4786-4897insTTACTATATAATATATAGTATATATT ACTATATA	NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	22/39		INFO_REALIGN_3_PRIME	chr12	TogoVar
NBDY_chrX_56724243_56824179	56725695	A A	AACAATAT others(27): Show AACAATATATGTATATATACATATATAACATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	158	0.0063	34	c.-36 others(45): Show c.-3659_-3658insACAATATATGTATATATACATATATAACATATAT	NBDY	ENSG00000204272.13	transcript	ENST00000374922.9	protein_coding		3547		chrX	TogoVar
NBEA_chr13_34937270_35677736	35010741	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0013 a0001c0005t0004g0013	1	49	0.0204	34	c.295 others(53): Show c.295-30191_295-30190insAAAAAAAAAAAATATATATATATATA TATATATA	NBEA	ENSG00000172915.20	transcript	ENST00000379939.7	protein_coding	1/58		INFO_REALIGN_3_PRIME	chr13	TogoVar
NBEA_chr13_34937270_35677736	35150793	T T	TTGAGTAG others(27): Show TTGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0013 a0001c0005t0004g0014 a0001c0005t0004g0013 a0001c0005t0004g0014	2	29	0.0690	34	c.244 others(53): Show c.2446-4980_2446-4979insGAGTAGAGTAGAGTAGAGTAGAGTAG AGTAGAGT	NBEA	ENSG00000172915.20	transcript	ENST00000379939.7	protein_coding	18/58		INFO_REALIGN_3_PRIME	chr13	TogoVar

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