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
NRSN1_chr6_24121215_24152530	24150881	A A	AAGAAAGA others(21): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG03704.hp2 HG04228.hp2 others(1): Show HG01123.hp2 HG03704.hp2 HG04228.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0155 a0001c0001t0001g0205 a0001c0001t0001g0006 a0001c0001t0001g0155 a0001c0001t0001g0205	4	406	0.0099	28	c.49 others(39): Show c.4935_*4936insAGAAAGAAAGAAAGAAAGAAAGAAAGAG	NRSN1	ENSG00000152954.12	transcript	ENST00000378491.9	protein_coding		3352		chr6	TogoVar
NRXN1_chr2_49913503_51037132	50447737	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0096 a0001c0002t0040g0096	1	116	0.0086	28	c.336 others(49): Show c.3364+17677_3364+17704dupTATATATATATATATATATATATA TATA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50447737	T T	TTTTATAT others(21): Show TTTTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02055.hp2 HG02257.hp2 others(3): Show HG01175.hp1 HG02055.hp2 HG02257.hp2 HG02886.hp1 HG03130.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0028 a0001c0001t0043 a0001c0002t0001 others(3): Show a0001c0001t0028 a0001c0001t0043 a0001c0002t0001 a0001c0002t0013 a0001c0002t0045 a0001c0004t0007	a0001c0001t0028g0008 a0001c0001t0043g0056 a0001c0002t0001g0105 others(3): Show a0001c0001t0028g0008 a0001c0001t0043g0056 a0001c0002t0001g0105 a0001c0002t0013g0110 a0001c0002t0045g0087 a0001c0004t0007g0093	6	116	0.0517	28	c.336 others(49): Show c.3364+17704_3364+17705insTATATATATATATATATATATATA TAAA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0024 a0001c0003t0002g0024	1	116	0.0086	28	c.833 others(47): Show c.833-60032_833-60031insATATATATTTTTTTTTTTTTTTTTTT TT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA19012.hp1 HG02074.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0015 a0001c0001t0006 a0001c0001t0015	a0001c0001t0006g0032 a0001c0001t0015g0037 a0001c0001t0006g0032 a0001c0001t0015g0037	2	116	0.0172	28	c.833 others(47): Show c.833-60032_833-60031insATATATATATATATTTTTTTTTTTTT TT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN3_chr14_78165373_79873291	78314942	T T	TCTTTCTT others(21): Show TCTTTCTTTCTTTCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0019 a0001c0003t0012g0019	1	24	0.0417	28	c.757 others(47): Show c.757+17085_757+17086insTCTTTCTTTCTTCCTTCCTTCCTTCC TT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	78510040	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0009 a0001c0002t0007g0009	1	24	0.0417	28	c.758 others(49): Show c.758-135061_758-135060insATATATATATATATATATATATAT ATAT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NSD2_chr4_1866393_1987192	1872589	T T	TGAGAGAG others(21): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0023 a0004c0009t0001g0023	1	130	0.0077	28	c.-30 others(45): Show c.-30+1048_-30+1049insAGAGAGAGAGAGAGAGAGAGAGAGAGAG	NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSD2_chr4_1866393_1987192	1872591	T T	TGTGAGAG others(21): Show TGTGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG03098.hp1 HG01975.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0083 a0001c0001t0003g0086 a0001c0001t0001g0083 a0001c0001t0003g0086	2	130	0.0154	28	c.-30 others(45): Show c.-30+1050_-30+1051insTGAGAGAGAGAGAGAGAGAGAGAGAGAG	NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSD2_chr4_1866393_1987192	1872591	T T	TGTGTGTG others(21): Show TGTGTGTGTGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01934.hp1 HG01928.hp2 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0005 a0001c0001t0001g0006	2	130	0.0154	28	c.-30 others(45): Show c.-30+1050_-30+1051insTGTGTGTGAGAGAGAGAGAGAGAGAGAG	NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSMAF_chr8_58578508_58664853	58625394	A A	ATATATAT others(21): Show ATATATATGTATGTATGTATGTATGTATG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG01167.hp1 others(8): Show HG00423.hp2 HG00558.hp1 HG01167.hp1 HG02040.hp1 HG02080.hp2 HG03516.hp1 HG04184.hp2 NA18522.hp1 NA18955.hp1 NA18971.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0089 a0001c0001t0001g0188 a0001c0001t0001g0189 others(8): Show a0001c0001t0001g0089 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0002g0078 a0001c0001t0002g0216 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0269 a0001c0001t0004g0021 a0001c0001t0004g0022	11	368	0.0299	28	c.385 others(45): Show c.385-1615_385-1614insCATACATACATACATACATACATATATA	NSMAF	ENSG00000035681.9	transcript	ENST00000038176.8	protein_coding	6/30			chr8	TogoVar
NSMCE1_chr16_27219994_27273772	27251159	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0063 a0002c0002t0001g0063	1	334	0.0030	28	c.136 others(45): Show c.136+6248_136+6275dupATATATATATATATATATATATATATAT	NSMCE1	ENSG00000169189.17	transcript	ENST00000361439.9	protein_coding	2/7			chr16	TogoVar
NSMCE1_chr16_27219994_27273772	27251189	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0033 a0002c0002t0001g0033	1	334	0.0030	28	c.136 others(45): Show c.136+6245_136+6246insTTATATATATATATATATATATATATAT	NSMCE1	ENSG00000169189.17	transcript	ENST00000361439.9	protein_coding	2/7			chr16	TogoVar
NSMCE2_chr8_125086860_125372120	125316732	T T	TTTCCTTC others(21): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG02027.hp2 others(13): Show HG00621.hp1 HG00621.hp2 HG02027.hp2 HG02559.hp1 HG02615.hp1 HG02895.hp1 HG02897.hp2 HG03486.hp1 HG04199.hp2 NA18951.hp2 NA18955.hp1 NA18964.hp2 NA18994.hp2 NA19086.hp1 NA19087.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0046 a0001c0001t0001g0057 a0001c0001t0001g0070 others(13): Show a0001c0001t0001g0046 a0001c0001t0001g0057 a0001c0001t0001g0070 a0001c0001t0001g0125 a0001c0001t0001g0141 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0172 a0001c0001t0001g0202 a0001c0001t0001g0209 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0237 a0001c0001t0002g0129	16	244	0.0656	28	c.419 others(47): Show c.419-40475_419-40448dupCTTCCTTCCTTCCTTCCTTCCTTCCT TC	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
NSMCE2_chr8_125086860_125372120	125320233	A A	AGGGAAGG others(21): Show AGGGAAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	244	0.0041	28	c.419 others(47): Show c.419-36986_419-36985insGGGAAGGGAGGGAGGGAGGGAGGGAG GG	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7			chr8	TogoVar
NSMCE2_chr8_125086860_125372120	125320251	G G	GGGAGGGA others(21): Show GGGAGGGAGGGAGGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	244	0.0041	28	c.419 others(47): Show c.419-36965_419-36964insGGGAGGGAGGGAAGGAAGGAAGGAAG GA	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18989.hp2 NA18956.hp1 NA18989.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0025 a0003c0003t0003 a0003c0003t0025	a0003c0003t0003g0165 a0003c0003t0025g0189 a0003c0003t0003g0165 a0003c0003t0025g0189	2	388	0.0052	28	c.754 others(43): Show c.754-454_754-453insAAAAAAAAAAAAAATATATATATATATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02735.hp2 NA18950.hp1 HG02056.hp2 HG02735.hp2 NA18950.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0024 a0003c0003t0003 a0003c0003t0024	a0003c0003t0003g0167 a0003c0003t0003g0191 a0003c0003t0024g0164 a0003c0003t0003g0167 a0003c0003t0003g0191 a0003c0003t0024g0164	3	388	0.0077	28	c.754 others(43): Show c.754-454_754-453insAAAAAAAAAAAATATATATATATATATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(21): Show AAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18955.hp1 HG00423.hp2 NA18955.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0046 a0003c0003t0008 a0003c0003t0046	a0003c0003t0008g0195 a0003c0003t0046g0194 a0003c0003t0008g0195 a0003c0003t0046g0194	2	388	0.0052	28	c.754 others(43): Show c.754-454_754-453insAAAAAAAAAATATATATATATATATATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(21): Show AAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0173 a0003c0003t0003g0173	1	388	0.0026	28	c.754 others(43): Show c.754-454_754-453insAAAAAAAATATATATATATATATATATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN6_chr10_18540561_18656587	18600959	T T	TATATATA others(21): Show TATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02080.hp2 NA18973.hp2 HG02040.hp1 HG02080.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0067 a0001c0001t0001g0092 a0001c0001t0006g0325 a0001c0001t0001g0067 a0001c0001t0001g0092 a0001c0001t0006g0325	3	346	0.0087	28	c.658 others(45): Show c.658-4633_658-4632insGTATGTATATATATATATATATATATAT	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar
NT5C1B_chr2_18557871_18594569	18591664	T T	TCCCCCCT others(21): Show TCCCCCCTCATAAAACCCCCCCTCATGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0241 a0001c0002t0003g0241	1	392	0.0026	28	c.-21 others(39): Show c.-2197_-2196insGTCATGAGGGGGGGTTTTATGAGGGGGG	NT5C1B	ENSG00000185013.17	transcript	ENST00000304081.9	protein_coding		2096		chr2	TogoVar
NT5C2_chr10_103083038_103198272	103183275	A A	ATATATAT others(21): Show ATATATATATATTTTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02083.hp1 HG02735.hp1 others(14): Show HG01358.hp2 HG02083.hp1 HG02735.hp1 HG03017.hp1 HG03942.hp1 NA18951.hp2 NA18971.hp2 NA18975.hp2 NA18982.hp1 NA18986.hp2 NA19004.hp2 NA19055.hp2 NA19058.hp2 NA19070.hp1 NA19077.hp2 NA19081.hp2 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0010 a0001c0002t0003 a0001c0002t0010	a0001c0002t0003g0033 a0001c0002t0003g0038 a0001c0002t0003g0039 others(14): Show a0001c0002t0003g0033 a0001c0002t0003g0038 a0001c0002t0003g0039 a0001c0002t0003g0040 a0001c0002t0003g0055 a0001c0002t0003g0056 a0001c0002t0003g0057 a0001c0002t0003g0067 a0001c0002t0003g0069 a0001c0002t0003g0070 a0001c0002t0003g0073 a0001c0002t0003g0080 a0001c0002t0003g0081 a0001c0002t0003g0082 a0001c0002t0003g0083 a0001c0002t0003g0084 a0001c0002t0010g0006	17	340	0.0500	28	c.-16 others(47): Show c.-168-1948_-168-1947insATATATATATATATAAAATATATATA TA	NT5C2	ENSG00000076685.19	transcript	ENST00000404739.8	protein_coding	1/18			chr10	TogoVar
NT5C2_chr10_103083038_103198272	103183275	A A	ATATATAT others(21): Show ATATATATATTTTATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0078 a0001c0002t0003g0078	1	340	0.0029	28	c.-16 others(47): Show c.-168-1948_-168-1947insATATATATATATATATAAAATATATA TA	NT5C2	ENSG00000076685.19	transcript	ENST00000404739.8	protein_coding	1/18			chr10	TogoVar
NT5C2_chr10_103083038_103198272	103183276	T T	TATATATA others(21): Show TATATATATATATTTTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0035 a0001c0002t0003g0035	1	340	0.0029	28	c.-16 others(47): Show c.-168-1949_-168-1948insTATATATATATATAAAATATATATAT AT	NT5C2	ENSG00000076685.19	transcript	ENST00000404739.8	protein_coding	1/18			chr10	TogoVar
NT5DC4_chr2_112716020_112744095	112719924	C C	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTTTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0274 a0007c0008t0001g0274	1	364	0.0028	28	c.-11 others(39): Show c.-1156_-1155insTCTTTCTTTCTTTCTTTCTTTTTTTCTT	NT5DC4	ENSG00000144130.12	transcript	ENST00000688554.1	protein_coding		1095		chr2	TogoVar
NT5DC4_chr2_112716020_112744095	112734169	A A	ATATATAT others(21): Show ATATATATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0065 a0005c0006t0001g0065	1	364	0.0028	28	c.134 others(47): Show c.1344+4466_1344+4467insATATATGTGTGTGTGTGTGTGTGTGT GT	NT5DC4	ENSG00000144130.12	transcript	ENST00000688554.1	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
NT5DC4_chr2_112716020_112744095	112734169	A A	ATATATGT others(21): Show ATATATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0001 a0012c0014t0001	a0012c0014t0001g0073 a0012c0014t0001g0073	1	364	0.0028	28	c.134 others(47): Show c.1344+4466_1344+4467insATATGTGTGTGTGTGTGTGTGTGTGT GT	NT5DC4	ENSG00000144130.12	transcript	ENST00000688554.1	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
NTM_chr11_131365615_132341822	131424600	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	86	0.0116	28	c.82+ others(45): Show c.82+53730_82+53731insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131432839	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18522.hp2 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0002g0047 a0001c0001t0001g0012 a0001c0001t0002g0047	2	86	0.0233	28	c.82+ others(45): Show c.82+61956_82+61983dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131834625	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	86	0.0116	28	c.83- others(45): Show c.83-76919_83-76918insATATATATATATATATATATATATATAT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131873626	T T	TATATATA others(21): Show TATATATATACACATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02145.hp2 others(4): Show HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02451.hp2 HG03041.hp1 HG03130.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0004t0003	a0001c0001t0001g0085 a0001c0001t0002g0020 a0001c0001t0003g0008 others(4): Show a0001c0001t0001g0085 a0001c0001t0002g0020 a0001c0001t0003g0008 a0001c0001t0003g0081 a0001c0001t0008g0045 a0001c0001t0009g0050 a0001c0004t0003g0054	7	86	0.0814	28	c.83- others(45): Show c.83-37896_83-37869dupTATATATATACACACATATATATACACA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTN1_chr17_9016510_9249000	9193938	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0098 a0002c0006t0001g0098	1	258	0.0039	28	c.141 others(49): Show c.1411+10975_1411+10976insAAAAAAAAAAAAAAAAAAAAACAA AAAA	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NTN1_chr17_9016510_9249000	9204193	C C	CTCCTTCC others(21): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp1 HG03453.hp2 others(1): Show HG01243.hp2 HG02109.hp1 HG03453.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0025 a0001c0001t0042 others(1): Show a0001c0001t0001 a0001c0001t0025 a0001c0001t0042 a0001c0002t0023	a0001c0001t0001g0208 a0001c0001t0025g0182 a0001c0001t0042g0253 others(1): Show a0001c0001t0001g0208 a0001c0001t0025g0182 a0001c0001t0042g0253 a0001c0002t0023g0105	4	258	0.0155	28	c.141 others(49): Show c.1412-16973_1412-16946dupCCTTCCTTCCTTCCTTCCTTCCTT CCTT	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NTRK1_chr1_156855865_156886850	156869018	C C	CCCTTCCT others(21): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18967.hp2 HG03017.hp2 NA18967.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0001 a0002c0005t0001 a0001c0003t0001 a0002c0005t0001	a0001c0003t0001g0296 a0002c0005t0001g0108 a0001c0003t0001g0296 a0002c0005t0001g0108	2	392	0.0051	28	c.717 others(43): Show c.717+416_717+443dupCCTTCCTTCCTTCCTTCCTTCCTTCCTT	NTRK1	ENSG00000198400.14	transcript	ENST00000524377.7	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
NTRK2_chr9_84664729_85032054	84798912	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0122 a0001c0001t0004g0122	1	170	0.0059	28	c.139 others(49): Show c.1396+46829_1396+46856dupATATATATATATATATATATATAT ATAT	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	84870331	G G	GTGTGTGT others(21): Show GTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0145 a0001c0002t0005g0145	1	170	0.0059	28	c.163 others(47): Show c.1633+2901_1633+2902insGTGTGTATATATATATATATATATAT AT	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	84870331	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02293.hp1 HG03579.hp2 HG01081.hp2 HG02293.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0007 a0001c0002t0008 a0001c0004t0003 a0001c0001t0007 a0001c0002t0008 a0001c0004t0003	a0001c0001t0007g0086 a0001c0002t0008g0013 a0001c0004t0003g0091 a0001c0001t0007g0086 a0001c0002t0008g0013 a0001c0004t0003g0091	3	170	0.0177	28	c.163 others(47): Show c.1633+2901_1633+2902insGTGTGTGTGTGTGTATATATATATAT AT	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	84888982	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03453.hp2 NA18961.hp1 others(1): Show HG02486.hp2 HG03453.hp2 NA18961.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0001t0053	a0001c0001t0004g0121 a0001c0001t0006g0053 a0001c0001t0013g0108 others(1): Show a0001c0001t0004g0121 a0001c0001t0006g0053 a0001c0001t0013g0108 a0001c0001t0053g0109	4	170	0.0235	28	c.163 others(49): Show c.1633+21577_1633+21578insTTTTTTTTTTTTTTTTTTTTTTTT TTTT	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK3_chr15_87854751_88261739	87886676	C C	CTACATAT others(21): Show CTACATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0018 a0001c0005t0018	a0001c0005t0018g0041 a0001c0005t0018g0041	1	134	0.0075	28	c.213 others(45): Show c.2134-942_2134-941insTATATATATATATATATATATATATGTA	NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	17/19			chr15	TogoVar
NTRK3_chr15_87854751_88261739	87945632	G G	GATACACT others(21): Show GATACACTGACATCGCTGGACACAGAGGT	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA18960.hp2 NA18962.hp2 others(1): Show HG00738.hp2 NA18960.hp2 NA18962.hp2 NA18978.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0035 a0001c0004t0029 a0001c0004t0078 others(1): Show a0001c0002t0035 a0001c0004t0029 a0001c0004t0078 a0001c0004t0080	a0001c0002t0035g0127 a0001c0004t0029g0057 a0001c0004t0078g0087 others(1): Show a0001c0002t0035g0127 a0001c0004t0029g0057 a0001c0004t0078g0087 a0001c0004t0080g0129	4	134	0.0299	28	c.158 others(47): Show c.1586-4907_1586-4880dupACCTCTGTGTCCAGCGATGTCAGTGT AT	NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	14/19			chr15	TogoVar
NTRK3_chr15_87854751_88261739	88142098	C C	CTGGACAA others(21): Show CTGGACAAGAGAGGATTCAAATGGTGAGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0011 a0001c0001t0007g0011	1	134	0.0075	28	c.465 others(45): Show c.465-4538_465-4537insCCTCACCATTTGAATCCTCTCTTGTCCA	NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	6/19			chr15	TogoVar
NTSR1_chr20_62703836_62767771	62767567	A A	AAGAAAGA others(21): Show AAGAAAGAAAGAAAGAAAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0041 a0003c0004t0041	a0003c0004t0041g0081 a0003c0004t0041g0081	1	316	0.0032	28	c.73 others(39): Show c.7300_*7301insAGAAAGAAAGAAAGAAAGAGAGAGAGAG	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding		4797		chr20	TogoVar
NTSR1_chr20_62703836_62767771	62767605	G G	GAAAGAAG others(21): Show GAAAGAAGAAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0106	1	316	0.0032	28	c.73 others(39): Show c.7338_*7339insAAAGAAGAAAGAAAGAAAGAAAGAAAGA	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding		4835		chr20	TogoVar
NUBPL_chr14_31556404_31866224	31666263	A A	ATATATAT others(21): Show ATATATATATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18947.hp1 NA18951.hp1 others(2): Show HG03704.hp1 NA18947.hp1 NA18951.hp1 NA18989.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0016 a0001c0001t0003 a0001c0001t0016	a0001c0001t0003g0108 a0001c0001t0003g0158 a0001c0001t0003g0161 others(2): Show a0001c0001t0003g0108 a0001c0001t0003g0158 a0001c0001t0003g0161 a0001c0001t0003g0195 a0001c0001t0016g0187	5	268	0.0187	28	c.383 others(45): Show c.383-7092_383-7091insTATATATATATATATATATATATTTATT	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	4/10			chr14	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	268	0.0037	28	c.514 others(47): Show c.514-27635_514-27634insTGTGTGTGTGAGAGAGAGAGAGAGAG AG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0205	1	268	0.0037	28	c.514 others(47): Show c.514-27635_514-27634insTGTGTGTGTGTGTGAGAGAGAGAGAG AG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUCB2_chr11_17271739_17337211	17288882	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0141 a0002c0002t0002g0141	1	360	0.0028	28	c.-1+ others(43): Show c.-1+5981_-1+6008dupCACACACACACACACACACACACACACA	NUCB2	ENSG00000070081.18	transcript	ENST00000529010.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
NUDC_chr1_26916743_26951871	26927187	C C	CGTGTGTG others(21): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02723.hp1 HG03017.hp2 others(1): Show HG01070.hp1 HG02723.hp1 HG03017.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0241 a0001c0001t0004g0238 a0001c0001t0004g0239 others(1): Show a0001c0001t0001g0241 a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0004g0248	4	254	0.0158	28	c.159 others(45): Show c.159+3035_159+3036insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NUDC	ENSG00000090273.14	transcript	ENST00000321265.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
NUDT12_chr5_103543855_103567789	103557280	G G	GGTATATA others(21): Show GGTATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0041 a0001c0001t0003g0106 a0001c0001t0002g0041 a0001c0001t0003g0106	3	438	0.0069	28	c.797 others(45): Show c.797-1183_797-1182insATATATATATATATATATATATATATAC	NUDT12	ENSG00000112874.10	transcript	ENST00000230792.7	protein_coding	3/6			chr5	TogoVar

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