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
NF1_chr17_31089977_31382675	31278493	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02886.hp1 others(3): Show HG01891.hp2 HG02109.hp1 HG02886.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0027 a0001c0001t0003 a0001c0001t0027	a0001c0001t0003g0131 a0001c0001t0003g0135 a0001c0001t0003g0136 others(3): Show a0001c0001t0003g0131 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0027g0148	6	252	0.0238	-20	c.483 others(41): Show c.4835+13173_4835+13192delTTTTTTTTTTTTTTTTTTTT	NF1	ENSG00000196712.20	transcript	ENST00000358273.9	protein_coding	36/57		INFO_REALIGN_3_PRIME	chr17	TogoVar
NF2_chr22_29598633_29703598	29624799	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01884.hp2 HG03704.hp1 others(2): Show HG01175.hp2 HG01884.hp2 HG03704.hp1 HG04204.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0056 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0056 a0001c0001t0058	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0003g0069 others(2): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0003g0069 a0001c0001t0056g0008 a0001c0001t0058g0254	5	344	0.0145	-20	c.115 others(39): Show c.115-11900_115-11881delTTCTTTCTTTCTTTCTTTCT	NF2	ENSG00000186575.19	transcript	ENST00000338641.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
NFASC_chr1_204823652_205027822	204839368	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00544.hp2 others(40): Show HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG01081.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01346.hp1 HG01928.hp1 HG01952.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02257.hp1 HG02293.hp2 HG02523.hp1 HG02717.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp2 HG06807.hp2 NA18950.hp1 NA18969.hp1 NA18974.hp2 NA18982.hp1 NA18990.hp2 NA19002.hp2 NA19003.hp1 NA19007.hp1 NA19011.hp1 NA19060.hp1 NA19065.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0012 a0001c0015 a0001c0038 a0001c0042 a0002c0003 a0002c0006 a0002c0007 a0003c0019 a0005c0047	a0001c0001t0001 a0001c0001t0012 a0001c0001t0040 others(20): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0040 a0001c0001t0052 a0001c0002t0001 a0001c0002t0002 a0001c0002t0019 a0001c0004t0001 a0001c0004t0038 a0001c0012t0001 a0001c0015t0005 a0001c0038t0014 a0001c0042t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0009 a0002c0003t0013 a0002c0003t0037 a0002c0006t0001 a0002c0007t0001 a0002c0007t0016 a0003c0019t0003 a0005c0047t0021	a0001c0001t0001g0045 a0001c0001t0001g0058 a0001c0001t0001g0079 others(40): Show a0001c0001t0001g0045 a0001c0001t0001g0058 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0097 a0001c0001t0012g0063 a0001c0001t0040g0113 a0001c0001t0052g0085 a0001c0002t0001g0057 a0001c0002t0001g0060 a0001c0002t0002g0073 a0001c0002t0019g0090 a0001c0004t0001g0046 a0001c0004t0001g0071 a0001c0004t0001g0076 a0001c0004t0001g0083 a0001c0004t0001g0087 a0001c0004t0001g0112 a0001c0004t0038g0096 a0001c0012t0001g0054 a0001c0012t0001g0055 a0001c0012t0001g0056 a0001c0015t0005g0114 a0001c0038t0014g0078 a0001c0042t0001g0072 a0002c0003t0001g0043 a0002c0003t0001g0059 a0002c0003t0001g0129 a0002c0003t0002g0049 a0002c0003t0002g0050 a0002c0003t0009g0051 a0002c0003t0013g0132 a0002c0003t0037g0068 a0002c0006t0001g0070 a0002c0007t0001g0047 a0002c0007t0001g0080 a0002c0007t0016g0074 a0002c0007t0016g0075 a0003c0019t0003g0116 a0005c0047t0021g0077	43	226	0.1903	-20	c.-20 others(41): Show c.-200+10617_-200+10636delACACACACACACACACACAC	NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFASC_chr1_204823652_205027822	204926396	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp1 HG01069.hp1 others(7): Show HG00639.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG03195.hp1 HG03486.hp1 HG03831.hp1 HG04184.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0041 others(3): Show a0001c0001 a0001c0002 a0001c0041 a0002c0003 a0002c0028 a0006c0025	a0001c0001t0001 a0001c0002t0004 a0001c0002t0008 others(6): Show a0001c0001t0001 a0001c0002t0004 a0001c0002t0008 a0001c0002t0028 a0001c0041t0003 a0002c0003t0039 a0002c0003t0042 a0002c0028t0014 a0006c0025t0015	a0001c0001t0001g0202 a0001c0002t0004g0107 a0001c0002t0008g0105 others(7): Show a0001c0001t0001g0202 a0001c0002t0004g0107 a0001c0002t0008g0105 a0001c0002t0008g0106 a0001c0002t0028g0104 a0001c0041t0003g0118 a0002c0003t0039g0218 a0002c0003t0042g0182 a0002c0028t0014g0183 a0006c0025t0015g0155	10	226	0.0443	-20	c.-91 others(37): Show c.-91+5658_-91+5677delATATATATATTTTTTTTTTT	NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFASC_chr1_204823652_205027822	204995343	TGTGTGTG others(13): Show TGTGTGTGTGTATGTGTGTCG	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19240.hp1 NA18906.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0040 a0001c0005 a0002c0040	a0001c0005t0022 a0002c0040t0004 a0001c0005t0022 a0002c0040t0004	a0001c0005t0022g0089 a0002c0040t0004g0052 a0001c0005t0022g0089 a0002c0040t0004g0052	2	226	0.0089	-20	c.278 others(39): Show c.2783-1823_2783-1804delTGTGTGTATGTGTGTCGGTG	NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding	24/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFASC_chr1_204823652_205027822	205025376	ACACACAC others(13): Show ACACACACACACACACGCGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02109.hp2 HG02258.hp1 others(4): Show HG01243.hp1 HG02109.hp2 HG02258.hp1 HG02280.hp1 HG03540.hp2 NA19043.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0009 others(2): Show a0001c0001 a0001c0005 a0003c0009 a0003c0023 a0003c0029	a0001c0001t0007 a0001c0005t0007 a0003c0009t0007 others(2): Show a0001c0001t0007 a0001c0005t0007 a0003c0009t0007 a0003c0023t0007 a0003c0029t0031	a0001c0001t0007g0130 a0001c0001t0007g0160 a0001c0005t0007g0066 others(4): Show a0001c0001t0007g0130 a0001c0001t0007g0160 a0001c0005t0007g0066 a0003c0009t0007g0138 a0003c0009t0007g0165 a0003c0023t0007g0108 a0003c0029t0031g0005	7	226	0.0310	-20	c.88 others(31): Show c.8838_*8857delCACACACACACACACGCGCG	NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding		2555		chr1	TogoVar
NFASC_chr1_204823652_205027822	205026706	GCCCAGCC others(13): Show GCCCAGCCCCCAGCCCCCAGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02109.hp1 HG02559.hp1 others(9): Show HG01109.hp2 HG02109.hp1 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02976.hp1 HG03195.hp1 HG03471.hp2 HG03486.hp1 NA19030.hp1 NA19240.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0002 a0001c0010 others(3): Show a0001c0001 a0001c0002 a0001c0010 a0001c0043 a0002c0040 a0011c0037	a0001c0001t0004 a0001c0002t0004 a0001c0002t0028 others(5): Show a0001c0001t0004 a0001c0002t0004 a0001c0002t0028 a0001c0002t0045 a0001c0010t0004 a0001c0043t0027 a0002c0040t0004 a0011c0037t0004	a0001c0001t0004g0064 a0001c0001t0004g0117 a0001c0002t0004g0004 others(9): Show a0001c0001t0004g0064 a0001c0001t0004g0117 a0001c0002t0004g0004 a0001c0002t0004g0107 a0001c0002t0004g0157 a0001c0002t0004g0185 a0001c0002t0028g0104 a0001c0002t0045g0098 a0001c0010t0004g0194 a0001c0043t0027g0224 a0002c0040t0004g0052 a0011c0037t0004g0110	12	226	0.0531	-20	c.10 others(33): Show c.10168_*10187delCCCAGCCCCCAGCCCCCAGC	NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding		3885		chr1	TogoVar
NFASC_chr1_204865862_205027822	204926396	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp1 HG01069.hp2 others(7): Show HG00639.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp1 HG03195.hp1 HG03486.hp2 HG03831.hp2 HG04184.hp1 NA20905.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0003c0015	a0001c0001t0001 a0001c0001t0040 a0001c0001t0045 others(6): Show a0001c0001t0001 a0001c0001t0040 a0001c0001t0045 a0001c0002t0005 a0001c0002t0008 a0001c0002t0032 a0001c0006t0004 a0001c0007t0026 a0003c0015t0027	a0001c0001t0001g0109 a0001c0001t0040g0019 a0001c0001t0045g0072 others(7): Show a0001c0001t0001g0109 a0001c0001t0040g0019 a0001c0001t0045g0072 a0001c0002t0005g0254 a0001c0002t0008g0252 a0001c0002t0008g0253 a0001c0002t0032g0251 a0001c0006t0004g0184 a0001c0007t0026g0123 a0003c0015t0027g0074	10	264	0.0379	-20	c.-90 others(39): Show c.-90-17828_-90-17809delATATATATATTTTTTTTTTT	NFASC	ENSG00000163531.17	transcript	ENST00000539706.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFASC_chr1_204865862_205027822	204995343	TGTGTGTG others(13): Show TGTGTGTGTGTATGTGTGTCG	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0222 a0001c0003t0024g0222	1	264	0.0038	-20	c.313 others(39): Show c.3136+4041_3136+4060delTGTGTGTATGTGTGTCGGTG	NFASC	ENSG00000163531.17	transcript	ENST00000539706.6	protein_coding	25/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFASC_chr1_204865862_205027822	205025376	ACACACAC others(13): Show ACACACACACACACACGCGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02109.hp2 HG02258.hp1 others(5): Show HG01243.hp2 HG02109.hp2 HG02258.hp1 HG02280.hp1 HG02723.hp2 HG02970.hp1 HG03540.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0007 a0001c0001t0028 a0001c0003t0007 others(1): Show a0001c0001t0007 a0001c0001t0028 a0001c0003t0007 a0001c0005t0007	a0001c0001t0007g0032 a0001c0001t0007g0048 a0001c0001t0028g0183 others(5): Show a0001c0001t0007g0032 a0001c0001t0007g0048 a0001c0001t0028g0183 a0001c0003t0007g0012 a0001c0003t0007g0042 a0001c0003t0007g0044 a0001c0003t0007g0181 a0001c0005t0007g0248	8	264	0.0303	-20	c.88 others(31): Show c.8838_*8857delCACACACACACACACGCGCG	NFASC	ENSG00000163531.17	transcript	ENST00000539706.6	protein_coding		2555		chr1	TogoVar
NFASC_chr1_204865862_205027822	205026706	GCCCAGCC others(13): Show GCCCAGCCCCCAGCCCCCAGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02109.hp1 HG02559.hp1 others(8): Show HG01109.hp2 HG02109.hp1 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02976.hp1 HG03195.hp1 HG03471.hp1 HG03486.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0022	a0001c0001t0005 a0001c0002t0005 a0001c0002t0032 others(3): Show a0001c0001t0005 a0001c0002t0005 a0001c0002t0032 a0001c0002t0048 a0001c0006t0005 a0001c0022t0031	a0001c0001t0005g0139 a0001c0001t0005g0226 a0001c0002t0005g0026 others(8): Show a0001c0001t0005g0139 a0001c0001t0005g0226 a0001c0002t0005g0026 a0001c0002t0005g0046 a0001c0002t0005g0140 a0001c0002t0005g0210 a0001c0002t0005g0254 a0001c0002t0032g0251 a0001c0002t0048g0239 a0001c0006t0005g0054 a0001c0022t0031g0136	11	264	0.0417	-20	c.10 others(33): Show c.10168_*10187delCCCAGCCCCCAGCCCCCAGC	NFASC	ENSG00000163531.17	transcript	ENST00000539706.6	protein_coding		3885		chr1	TogoVar
NFAT5_chr16_69560966_69709654	69561005	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02895.hp2 HG02723.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0171 a0001c0002t0008g0174 a0001c0002t0008g0171 a0001c0002t0008g0174	2	380	0.0053	-20	c.-52 others(31): Show c.-5296_-5277delAAAAAAAAAAAAAAAAAAAA	NFAT5	ENSG00000102908.23	transcript	ENST00000349945.7	protein_coding		4960		chr16	TogoVar
NFAT5_chr16_69560966_69709654	69627323	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0101 a0002c0004t0006g0103 a0002c0004t0006g0101 a0002c0004t0006g0103	2	380	0.0053	-20	c.253 others(35): Show c.253+836_253+855delATATATATATATATATATAT	NFAT5	ENSG00000102908.23	transcript	ENST00000349945.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFATC2_chr20_51381963_51547719	51396034	GTATGTAT others(13): Show GTATGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02976.hp1 HG03195.hp2 others(2): Show HG02615.hp1 HG02976.hp1 HG03195.hp2 HG03516.hp2 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0010 a0001c0001 a0001c0002 a0004c0010	a0001c0001t0008 a0001c0002t0008 a0004c0010t0022 a0001c0001t0008 a0001c0002t0008 a0004c0010t0022	a0001c0001t0008g0232 a0001c0001t0008g0247 a0001c0001t0008g0255 others(2): Show a0001c0001t0008g0232 a0001c0001t0008g0247 a0001c0001t0008g0255 a0001c0002t0008g0167 a0004c0010t0022g0306	5	316	0.0158	-20	c.44 others(37): Show c.44+2589_*44+2608delTATATATATATATATACATA	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	10/10			chr20	TogoVar
NFATC2_chr20_51381963_51547719	51396038	GTATATAT others(13): Show GTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG03225.hp2 NA18939.hp2 others(1): Show HG00423.hp2 HG03225.hp2 NA18939.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0037 a0001c0001t0001 a0001c0002t0037	a0001c0001t0001g0090 a0001c0001t0001g0120 a0001c0001t0001g0199 others(1): Show a0001c0001t0001g0090 a0001c0001t0001g0120 a0001c0001t0001g0199 a0001c0002t0037g0222	4	316	0.0127	-20	c.44 others(37): Show c.44+2585_*44+2604delTATATATATATATATATATA	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	10/10			chr20	TogoVar
NFATC2_chr20_51381963_51547719	51456031	AATGGATG others(13): Show AATGGATGGGTGGATGGGTGG	A A	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0239 a0002c0006t0003g0239	1	316	0.0032	-20	c.170 others(39): Show c.1709-1363_1709-1344delCCACCCATCCACCCATCCAT	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	5/10			chr20	TogoVar
NFATC2_chr20_51381963_51547719	51491871	TACACATA others(13): Show TACACATACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01934.hp2 HG02165.hp1 others(6): Show HG00438.hp1 HG01934.hp2 HG02165.hp1 HG04184.hp2 NA18941.hp1 NA18966.hp1 NA18986.hp1 NA19009.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 a0001c0002 a0001c0004 a0001c0005	a0001c0002t0003 a0001c0004t0001 a0001c0004t0002 others(3): Show a0001c0002t0003 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0005t0001 a0001c0005t0002	a0001c0002t0003g0153 a0001c0004t0001g0004 a0001c0004t0002g0192 others(6): Show a0001c0002t0003g0153 a0001c0004t0001g0004 a0001c0004t0002g0192 a0001c0004t0005g0005 a0001c0004t0005g0006 a0001c0005t0001g0191 a0001c0005t0001g0193 a0001c0005t0001g0194 a0001c0005t0002g0002	9	316	0.0285	-20	c.133 others(41): Show c.1333-16231_1333-16212delGTGTGTGTGTGTGTATGTGT	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	3/10			chr20	TogoVar
NFE2_chr12_54287111_54306015	54305953	AAATAAAT others(13): Show AAATAAATAAATAAATAACAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	346	0.0029	-20	c.-52 others(31): Show c.-5229_-5210delATGTTATTTATTTATTTATT	NFE2	ENSG00000123405.14	transcript	ENST00000435572.7	protein_coding		4939		chr12	TogoVar
NFIA_chr1_61077561_61467788	61118659	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0133 a0001c0001t0004g0133	1	156	0.0064	-20	c.559 others(39): Show c.559+30010_559+30029delGTGTGTGTGTGTGTGTGTGT	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFIA_chr1_61077561_61467788	61200010	GTATATAT others(13): Show GTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG01071.hp2 others(1): Show HG00140.hp2 HG00738.hp1 HG01071.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0005 a0001c0001t0001 a0001c0001t0003 a0001c0002t0005	a0001c0001t0001g0019 a0001c0001t0001g0127 a0001c0001t0003g0140 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0127 a0001c0001t0003g0140 a0001c0002t0005g0028	4	156	0.0256	-20	c.560 others(39): Show c.560-77472_560-77453delATATATATATATATATATAT	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFIA_chr1_61077561_61467788	61334555	GTATATAT others(13): Show GTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02129.hp1 HG02572.hp1 others(5): Show HG00738.hp2 HG02129.hp1 HG02572.hp1 NA18951.hp1 NA18968.hp1 NA19058.hp1 NA19063.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0020	a0001c0001t0002g0124 a0001c0001t0004g0044 a0001c0001t0005g0088 others(5): Show a0001c0001t0002g0124 a0001c0001t0004g0044 a0001c0001t0005g0088 a0001c0001t0005g0148 a0001c0002t0001g0056 a0001c0002t0001g0150 a0001c0002t0002g0052 a0001c0002t0020g0129	8	156	0.0513	-20	c.700 others(37): Show c.700+2007_700+2026delATATATATATATATATATAT	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFIA_chr1_61077561_61467788	61466722	CACACACA others(13): Show CACACACACACACACACATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02280.hp1 HG02451.hp1 others(8): Show HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02647.hp2 HG02895.hp1 HG02976.hp1 HG03041.hp1 HG03225.hp2 HG03516.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0029 a0001c0001t0051 a0001c0002t0004 a0001c0002t0044	a0001c0001t0001g0046 a0001c0001t0004g0081 a0001c0001t0004g0133 others(8): Show a0001c0001t0001g0046 a0001c0001t0004g0081 a0001c0001t0004g0133 a0001c0001t0009g0039 a0001c0001t0010g0040 a0001c0001t0010g0042 a0001c0001t0010g0071 a0001c0001t0029g0069 a0001c0001t0051g0006 a0001c0002t0004g0030 a0001c0002t0044g0145	11	156	0.0705	-20	c.11 others(33): Show c.11403_*11422delACACACACACACACACATAT	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding		3935		chr1	TogoVar
NFIB_chr9_14076848_14319141	14080447	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG02451.hp2 HG02615.hp1 others(3): Show HG01928.hp1 HG02451.hp2 HG02615.hp1 HG03486.hp2 NA19030.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0028 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0028 a0001c0001t0035 a0001c0001t0041	a0001c0001t0003g0087 a0001c0001t0004g0229 a0001c0001t0028g0046 others(3): Show a0001c0001t0003g0087 a0001c0001t0004g0229 a0001c0001t0028g0046 a0001c0001t0028g0065 a0001c0001t0035g0161 a0001c0001t0041g0026	6	304	0.0197	-20	c.78 others(31): Show c.7842_*7861delAAAAAAAAAAAAAAAAAAAA	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding		1400		chr9	TogoVar
NFIB_chr9_14076848_14319141	14187007	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02486.hp1 HG02559.hp1 others(5): Show HG01109.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02809.hp1 HG03225.hp2 HG03453.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0014 others(1): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0014 a0001c0001t0019	a0001c0001t0003g0008 a0001c0001t0003g0012 a0001c0001t0011g0147 others(5): Show a0001c0001t0003g0008 a0001c0001t0003g0012 a0001c0001t0011g0147 a0001c0001t0011g0154 a0001c0001t0011g0239 a0001c0001t0014g0152 a0001c0001t0019g0036 a0001c0001t0019g0045	8	304	0.0263	-20	c.563 others(37): Show c.563-7247_563-7228delTACACACACACACACACACA	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14216523	TCTCTCTC others(13): Show TCTCTCTCTCTCTCTCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0101 a0001c0001t0101	a0001c0001t0101g0264 a0001c0001t0101g0264	1	304	0.0033	-20	c.563 others(39): Show c.563-36763_563-36744delGGAGAGAGAGAGAGAGAGAG	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14237763	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0255 a0001c0001t0074g0255	1	304	0.0033	-20	c.563 others(39): Show c.563-58003_563-57984delACACACACACACACACACAC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIC_chr19_3361583_3474217	3371921	TTCCTTCC others(13): Show TTCCTTCCTTCCTTCCTTCCC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0202 a0001c0001t0202	a0001c0001t0202g0152 a0001c0001t0202g0152	1	300	0.0033	-20	c.30+ others(35): Show c.30+5259_30+5278delTTCCTTCCTTCCTTCCCTCC	NFIC	ENSG00000141905.19	transcript	ENST00000443272.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFIC_chr19_3361583_3474217	3414592	CTAAAATA others(13): Show CTAAAATAAAATAAAATAAAA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01361.hp2 others(32): Show HG00735.hp1 HG00735.hp2 HG01361.hp2 HG01515.hp1 HG01891.hp1 HG02055.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02559.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03486.hp2 HG03492.hp1 HG03540.hp1 HG03704.hp2 NA18906.hp2 NA18979.hp1 NA19079.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0014 a0001c0001t0021 a0001c0001t0024 others(32): Show a0001c0001t0014 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0132 a0001c0001t0141 a0001c0001t0162 a0001c0001t0221 a0001c0001t0224 a0001c0001t0229 a0001c0001t0232 a0001c0001t0233 a0001c0001t0235 a0001c0001t0236 a0001c0001t0242 a0001c0001t0244 a0001c0001t0246 a0001c0001t0249 a0001c0001t0250 a0001c0001t0251 a0001c0001t0252 a0001c0002t0039 a0001c0002t0042 a0001c0002t0048 a0001c0002t0049 a0001c0002t0050 a0001c0002t0079 a0001c0002t0204 a0001c0004t0010 a0002c0003t0058 a0002c0003t0085 a0002c0003t0201 a0002c0003t0209 a0002c0003t0223 a0002c0003t0225	a0001c0001t0014g0084 a0001c0001t0021g0275 a0001c0001t0024g0115 others(32): Show a0001c0001t0014g0084 a0001c0001t0021g0275 a0001c0001t0024g0115 a0001c0001t0025g0073 a0001c0001t0132g0122 a0001c0001t0141g0225 a0001c0001t0162g0063 a0001c0001t0221g0162 a0001c0001t0224g0185 a0001c0001t0229g0240 a0001c0001t0232g0042 a0001c0001t0233g0239 a0001c0001t0235g0159 a0001c0001t0236g0187 a0001c0001t0242g0039 a0001c0001t0244g0247 a0001c0001t0246g0086 a0001c0001t0249g0058 a0001c0001t0250g0195 a0001c0001t0251g0210 a0001c0001t0252g0111 a0001c0002t0039g0069 a0001c0002t0042g0100 a0001c0002t0048g0106 a0001c0002t0049g0213 a0001c0002t0050g0277 a0001c0002t0079g0198 a0001c0002t0204g0279 a0001c0004t0010g0209 a0002c0003t0058g0200 a0002c0003t0085g0142 a0002c0003t0201g0113 a0002c0003t0209g0248 a0002c0003t0223g0157 a0002c0003t0225g0141	35	300	0.1167	-20	c.563 others(39): Show c.563-10475_563-10456delAATAAAATAAAATAAAATAA	NFIC	ENSG00000141905.19	transcript	ENST00000443272.3	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFIC_chr19_3361583_3474217	3439333	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02451.hp2 HG02486.hp2 others(10): Show HG01175.hp1 HG02451.hp2 HG02486.hp2 HG02723.hp1 HG02922.hp2 HG03225.hp1 HG03540.hp1 HG03688.hp1 NA19043.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0022 a0001c0001t0234 others(8): Show a0001c0001t0001 a0001c0001t0022 a0001c0001t0234 a0001c0001t0238 a0001c0001t0245 a0001c0001t0247 a0001c0002t0042 a0001c0002t0044 a0001c0002t0056 a0002c0003t0072 a0002c0003t0225	a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0022g0075 others(10): Show a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0022g0075 a0001c0001t0022g0101 a0001c0001t0234g0244 a0001c0001t0238g0172 a0001c0001t0245g0010 a0001c0001t0247g0121 a0001c0002t0042g0100 a0001c0002t0044g0043 a0001c0002t0056g0116 a0002c0003t0072g0156 a0002c0003t0225g0141	13	300	0.0433	-20	c.958 others(37): Show c.958+4149_958+4168delAAAAAAAAAAAAAAAAAAAA	NFIC	ENSG00000141905.19	transcript	ENST00000443272.3	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8625897	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02257.hp1 HG02280.hp1 others(2): Show HG02055.hp1 HG02257.hp1 HG02280.hp1 NA19240.hp1 NA19240.hp2	a0001 a0004 a0014 a0001 a0004 a0014	a0001c0001 a0004c0004 a0014c0015 a0001c0001 a0004c0004 a0014c0015	a0001c0001t0031 a0001c0001t0038 a0001c0001t0054 others(2): Show a0001c0001t0031 a0001c0001t0038 a0001c0001t0054 a0004c0004t0053 a0014c0015t0055	a0001c0001t0031g0334 a0001c0001t0038g0333 a0001c0001t0054g0098 others(2): Show a0001c0001t0031g0334 a0001c0001t0038g0333 a0001c0001t0054g0098 a0004c0004t0053g0096 a0014c0015t0055g0097	5	366	0.0137	-20	c.-52 others(31): Show c.-5257_-5238delTTTTTTTTTTTTTTTTTTTT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding		4735		chr19	TogoVar
NFILZ_chr19_8625633_8686151	8634864	CACAAACA others(13): Show CACAAACAAACAAACAAACAA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp2 HG01071.hp2 others(11): Show HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01192.hp2 HG01358.hp1 HG02148.hp2 HG03490.hp1 HG03492.hp1 HG03942.hp2 NA18956.hp1 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 others(8): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0040 a0001c0001t0041 a0001c0001t0142 a0001c0001t0148 a0001c0001t0153 a0001c0001t0155 a0002c0002t0102 a0003c0003t0033	a0001c0001t0003g0016 a0001c0001t0004g0021 a0001c0001t0004g0027 others(11): Show a0001c0001t0003g0016 a0001c0001t0004g0021 a0001c0001t0004g0027 a0001c0001t0004g0030 a0001c0001t0014g0031 a0001c0001t0040g0025 a0001c0001t0041g0023 a0001c0001t0142g0011 a0001c0001t0148g0020 a0001c0001t0153g0029 a0001c0001t0155g0022 a0002c0002t0102g0014 a0003c0003t0033g0026 a0003c0003t0033g0028	14	366	0.0383	-20	c.-26 others(37): Show c.-260-764_-260-745delCAAACAAACAAACAAACAAA	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8647787	GCGCGCGC others(13): Show GCGCGCGCGCACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18906.hp2 HG03486.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0051 a0001c0001t0038 a0001c0001t0051	a0001c0001t0038g0117 a0001c0001t0051g0101 a0001c0001t0038g0117 a0001c0001t0051g0101	2	366	0.0055	-20	c.-16 others(41): Show c.-164+12043_-164+12062delGCGCGCGCACACACACACAC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8652969	CTCCTTCC others(13): Show CTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0112 a0001c0001t0112	a0001c0001t0112g0326 a0001c0001t0112g0326	1	366	0.0027	-20	c.-16 others(41): Show c.-164+17249_-164+17268delCCTTCCTTCCTTCCTTCCTT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8652995	CCTTCCTT others(13): Show CCTTCCTTCCTTCCTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	366	0.0027	-20	c.-16 others(41): Show c.-164+17253_-164+17272delCCTTCCTTCCTTCCTTTCTT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8653038	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0017 a0006c0006t0017	a0006c0006t0017g0118 a0006c0006t0017g0118	1	366	0.0027	-20	c.-16 others(41): Show c.-164+17318_-164+17337delCTCTCTCTCTCTCTCTCTCT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFS1_chr20_35663052_35704352	35684411	TAAATAAA others(13): Show TAAATAAAATAAAATAAAATA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03239.hp2 HG04228.hp1 HG03041.hp1 HG03239.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0009g0183 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0009g0183	3	268	0.0112	-20	c.562 others(37): Show c.562-2450_562-2431delTATTTTATTTTATTTTATTT	NFS1	ENSG00000244005.13	transcript	ENST00000374092.9	protein_coding	5/12			chr20	TogoVar
NFU1_chr2_69391126_69442435	69423236	CTGTGTGA others(13): Show CTGTGTGAGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG02572.hp2 others(4): Show HG01884.hp1 HG02258.hp1 HG02572.hp2 HG02818.hp2 HG02970.hp1 NA19030.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 others(4): Show a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0359 a0001c0001t0001g0360	7	368	0.0190	-20	c.302 others(35): Show c.302+326_302+345delCACACACACACACTCACACA	NFU1	ENSG00000169599.13	transcript	ENST00000410022.7	protein_coding	3/7			chr2	TogoVar
NGEF_chr2_232873701_233018256	232944726	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01123.hp1 HG01517.hp2 others(3): Show HG01069.hp1 HG01123.hp1 HG01517.hp2 HG02451.hp1 HG04228.hp1 NA20752.hp2	a0002 a0002	a0002c0010 a0002c0014 a0002c0010 a0002c0014	a0002c0010t0003 a0002c0014t0007 a0002c0010t0003 a0002c0014t0007	a0002c0010t0003g0139 a0002c0010t0003g0322 a0002c0010t0003g0323 others(3): Show a0002c0010t0003g0139 a0002c0010t0003g0322 a0002c0010t0003g0323 a0002c0010t0003g0326 a0002c0010t0003g0327 a0002c0014t0007g0284	6	362	0.0166	-20	c.384 others(39): Show c.384-17560_384-17541delATATATATATATATATATAT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	3/14			chr2	TogoVar
NGFR_chr17_49490293_49520008	49502815	TCTTCCTT others(13): Show TCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01361.hp2 HG02723.hp1 others(4): Show HG01175.hp2 HG01361.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG02965.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0024	a0001c0001t0001g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 others(4): Show a0001c0001t0001g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0011g0125 a0001c0001t0011g0174 a0001c0001t0011g0213 a0001c0001t0024g0175	7	426	0.0164	-20	c.208 others(35): Show c.208+647_208+666delCCTTCCTTCCTTCCTTCCTT	NGFR	ENSG00000064300.9	transcript	ENST00000172229.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
NGF_chr1_115280917_115343249	115321576	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01099.hp2 HG01884.hp1 others(30): Show HG00741.hp2 HG01099.hp2 HG01884.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 NA18522.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0010 a0001c0001t0001g0029 a0001c0001t0001g0129 others(29): Show a0001c0001t0001g0010 a0001c0001t0001g0029 a0001c0001t0001g0129 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0220 a0001c0001t0001g0304 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0001g0383 a0001c0001t0001g0396 a0001c0003t0001g0162 a0001c0003t0001g0168 a0001c0003t0001g0187 a0001c0003t0001g0198 a0001c0003t0001g0351 a0001c0003t0001g0399 a0001c0003t0001g0404 a0002c0002t0001g0027 a0002c0002t0001g0028	33	418	0.0790	-20	c.-13 others(41): Show c.-137+16608_-137+16627delCACACACACACACACACACA	NGF	ENSG00000134259.6	transcript	ENST00000369512.3	protein_coding	1/2			chr1	TogoVar
NGF_chr1_115280917_115343249	115333655	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	418	0.0024	-20	c.-13 others(39): Show c.-137+4529_-137+4548delAAGAAAGAAAGAAAGAAAGA	NGF	ENSG00000134259.6	transcript	ENST00000369512.3	protein_coding	1/2			chr1	TogoVar
NGF_chr1_115280917_115343249	115333714	TTTTCTTT others(13): Show TTTTCTTTCTTTCCTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01243.hp2 HG01928.hp1 others(19): Show HG00423.hp1 HG01243.hp2 HG01928.hp1 HG01993.hp1 HG02155.hp2 HG02896.hp2 HG02897.hp1 HG03490.hp2 HG03492.hp1 NA18952.hp1 NA18953.hp1 NA18957.hp1 NA18966.hp2 NA18984.hp1 NA18987.hp2 NA18992.hp2 NA19007.hp1 NA19012.hp1 NA19062.hp1 NA19070.hp2 NA19081.hp2 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0002c0002t0001 a0004c0005t0001 a0001c0001t0001 a0002c0002t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0047 a0001c0001t0001g0070 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0047 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0103 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0235 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0286 a0002c0002t0001g0045 a0002c0002t0001g0055 a0002c0002t0001g0074 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0102 a0004c0005t0001g0089 a0004c0005t0001g0090	22	418	0.0526	-20	c.-13 others(39): Show c.-137+4470_-137+4489delGAAAGAAGGAAAGAAAGAAA	NGF	ENSG00000134259.6	transcript	ENST00000369512.3	protein_coding	1/2			chr1	TogoVar
NGLY1_chr3_25713944_25788443	25760860	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 NA21309.hp2 HG01070.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0096 a0001c0001t0005g0011 a0001c0001t0001g0096 a0001c0001t0005g0011	2	264	0.0076	-20	c.492 others(37): Show c.492+3186_492+3205delTTTTTTTTTTTTTTTTTTTT	NGLY1	ENSG00000151092.18	transcript	ENST00000280700.10	protein_coding	3/11			chr3	TogoVar
NHLRC2_chr10_113849661_113922194	113874442	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0109 a0004c0004t0001g0109	1	358	0.0028	-20	c.332 others(37): Show c.332-2045_332-2026delGTGTGTGTGTGTGTGTGTGT	NHLRC2	ENSG00000196865.4	transcript	ENST00000369301.3	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
NHLRC4_chr16_562005_574495	571551	TGTCTGGC others(13): Show TGTCTGGCTAGCCTGGTGCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	-20	c.31 others(31): Show c.3133_*3152delGTCTGGCTAGCCTGGTGCCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		2057		chr16	TogoVar
NHSL1_chr6_138417043_138504494	138489845	GGAGAGAG others(13): Show GGAGAGAGGGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02572.hp2 HG02647.hp2 others(3): Show HG00639.hp1 HG02572.hp2 HG02647.hp2 HG02818.hp2 HG02886.hp2 HG02976.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0001c0010 a0001c0017 others(1): Show a0001c0004 a0001c0010 a0001c0017 a0003c0006	a0001c0004t0004 a0001c0004t0011 a0001c0010t0016 others(2): Show a0001c0004t0004 a0001c0004t0011 a0001c0010t0016 a0001c0017t0012 a0003c0006t0005	a0001c0004t0004g0143 a0001c0004t0004g0144 a0001c0004t0011g0152 others(3): Show a0001c0004t0004g0143 a0001c0004t0004g0144 a0001c0004t0011g0152 a0001c0010t0016g0145 a0001c0017t0012g0146 a0003c0006t0005g0147	6	332	0.0181	-20	c.211 others(37): Show c.211+6354_211+6373delTCTCTCTCTCTCCCTCTCTC	NHSL1	ENSG00000135540.12	transcript	ENST00000343505.10	protein_coding	2/7			chr6	TogoVar
NHSL2_chrX_71905845_72158286	71955699	AGCTGTGA others(13): Show AGCTGTGAGAGGAGGGAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0160 a0001c0001t0019g0161 a0001c0001t0019g0160 a0001c0001t0019g0161	2	187	0.0107	-20	c.280 others(39): Show c.280+44334_280+44353delCTGTGAGAGGAGGGAAAATG	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
NHSL2_chrX_71905845_72158286	72039067	TTTTCCTT others(13): Show TTTTCCTTTCCTTTCCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02965.hp1 HG03540.hp1 others(1): Show HG02451.hp1 HG02965.hp1 HG03540.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0037 a0001c0001t0038 a0001c0001t0051 others(1): Show a0001c0001t0037 a0001c0001t0038 a0001c0001t0051 a0001c0003t0084	a0001c0001t0037g0154 a0001c0001t0038g0158 a0001c0001t0051g0187 others(1): Show a0001c0001t0037g0154 a0001c0001t0038g0158 a0001c0001t0051g0187 a0001c0003t0084g0150	4	187	0.0214	-20	c.281 others(39): Show c.281-92949_281-92930delTCCTTTCCTTTCCTTTCCTT	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
NHSL2_chrX_71905845_72158286	72039130	TCCTTTCC others(13): Show TCCTTTCCTTTCCTTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0159 a0001c0003t0028g0159	1	187	0.0054	-20	c.281 others(39): Show c.281-92947_281-92928delCTTTCCTTTCCTTTCCTTCC	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
NHS_chrX_17370200_17740994	17425522	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp1 HG02615.hp1 others(8): Show HG02145.hp1 HG02280.hp1 HG02615.hp1 HG02630.hp2 HG02809.hp2 HG03041.hp1 HG03098.hp1 HG03209.hp1 HG03516.hp1 NA19000.hp1 NA19030.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0009	a0001c0001 a0002c0002 a0005c0005 others(3): Show a0001c0001 a0002c0002 a0005c0005 a0006c0007 a0006c0008 a0009c0016	a0001c0001t0002 a0001c0001t0006 a0002c0002t0006 others(5): Show a0001c0001t0002 a0001c0001t0006 a0002c0002t0006 a0005c0005t0003 a0006c0007t0002 a0006c0008t0001 a0006c0008t0008 a0009c0016t0002	a0001c0001t0002g0116 a0001c0001t0002g0120 a0001c0001t0002g0121 others(8): Show a0001c0001t0002g0116 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0006g0112 a0002c0002t0006g0060 a0005c0005t0003g0117 a0006c0007t0002g0115 a0006c0007t0002g0118 a0006c0008t0001g0114 a0006c0008t0008g0113 a0009c0016t0002g0119	11	164	0.0671	-20	c.565 others(39): Show c.565+49230_565+49249delAAAAAAAAAAAAAAAAAAAA	NHS	ENSG00000188158.17	transcript	ENST00000676302.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar

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