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
NGEF_chr2_232873701_233018256	232995095	A A	ACTGTATA others(35): Show ACTGTATATATATATACAGTATGTATACTGTATATATGTACAG	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0145 a0001c0001t0006g0145	1	285	0.0035	42	c.-75 others(61): Show c.-75+17972_-75+17973insCTGTACATATATACAGTATACATACT GTATATATATATACAG	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995232	G G	GTATACAG others(35): Show GTATACAGTATGTATACTGTATACAGTATGTATACTGTATACA	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18953.hp1 NA18967.hp1 others(1): Show HG02071.hp1 NA18953.hp1 NA18967.hp1 NA18981.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0005 a0001c0001t0006 a0002c0008t0004 a0001c0001t0005 a0001c0001t0006 a0002c0008t0004	a0001c0001t0005g0333 a0001c0001t0006g0145 a0002c0008t0004g0134 others(1): Show a0001c0001t0005g0333 a0001c0001t0006g0145 a0002c0008t0004g0134 a0002c0008t0004g0136	4	330	0.0121	42	c.-75 others(61): Show c.-75+17835_-75+17836insTGTATACAGTATACATACTGTATACA GTATACATACTGTATA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995234	G G	ATACAGTA others(35): Show ATACAGTATGTATACTGTATACAGTATGTATACTGTATACATG	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0004 a0002c0008t0004	a0002c0008t0004g0135 a0002c0008t0004g0135	1	140	0.0071	42	c.-75 others(61): Show c.-75+17834_-75+17835insATGTATACAGTATACATACTGTATAC AGTATACATACTGTAT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995240	T T	TATGTATA others(35): Show TATGTATACTGTATACAGCATGTATACTGTATACATGTACAGC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18985.hp2 NA18992.hp2 others(2): Show NA18970.hp1 NA18985.hp2 NA18992.hp2 NA19074.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0002c0006t0008 a0001c0001t0001 a0001c0001t0002 a0002c0006t0008	a0001c0001t0001g0159 a0001c0001t0001g0178 a0001c0001t0002g0172 others(2): Show a0001c0001t0001g0159 a0001c0001t0001g0178 a0001c0001t0002g0172 a0002c0006t0008g0174 a0002c0006t0008g0188	5	341	0.0147	42	c.-75 others(61): Show c.-75+17827_-75+17828insGCTGTACATGTATACAGTATACATGC TGTATACAGTATACAT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995240	T T	TATGTATA others(35): Show TATGTATACTGTATACAGTATGTATACTGTATACATGTACAGC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18998.hp2 NA18950.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0008 a0001c0004t0004 a0001c0001t0008 a0001c0004t0004	a0001c0001t0008g0116 a0001c0004t0004g0139 a0001c0001t0008g0116 a0001c0004t0004g0139	2	338	0.0059	42	c.-75 others(61): Show c.-75+17827_-75+17828insGCTGTACATGTATACAGTATACATAC TGTATACAGTATACAT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995277	T T	TACAGCAT others(35): Show TACAGCATGTATACTGTATACAGCATGTATACTGTATATATAC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03834.hp2 HG03239.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0003 a0001c0005t0001 a0001c0002t0003 a0001c0005t0001	a0001c0002t0003g0194 a0001c0005t0001g0094 a0001c0002t0003g0194 a0001c0005t0001g0094	2	356	0.0056	42	c.-75 others(61): Show c.-75+17790_-75+17791insGTATATATACAGTATACATGCTGTAT ACAGTATACATGCTGT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995298	G G	GTGTACAG others(35): Show GTGTACAGTATGTATACTGCGTACAGCATGTATACTGTATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0075 a0001c0002t0003g0075	1	76	0.0132	42	c.-75 others(61): Show c.-75+17769_-75+17770insTATATACAGTATACATGCTGTACGCA GTATACATACTGTACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NHEJ1_chr2_219064357_219165815	219159526	C C	CATATATA others(35): Show CATATATATATATGCATATATATATGCATATATATATATGCAT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	257	0.0039	42	c.1-1 others(55): Show c.1-1165_1-1164insATGCATATATATATATGCATATATATATGCAT ATATATATAT	NHEJ1	ENSG00000187736.14	transcript	ENST00000356853.10	protein_coding	1/7			chr2	TogoVar
NHEJ1_chr2_219064357_219165815	219159552	C C	CATATATA others(35): Show CATATATATATATGCATATATATATATGCATATATATATGCAT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	227	0.0044	42	c.-1+ others(57): Show c.-1+1167_-1+1168insATGCATATATATATGCATATATATATATGC ATATATATATAT	NHEJ1	ENSG00000187736.14	transcript	ENST00000356853.10	protein_coding	1/7			chr2	TogoVar
NHEJ1_chr2_219064357_219165815	219159578	T T	TATATATG others(35): Show TATATATGCATATATATATATGCATATATATGCATATATATGC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02155.hp2 HG01123.hp1 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0095 a0001c0001t0004g0096 a0001c0001t0002g0095 a0001c0001t0004g0096	2	277	0.0072	42	c.-1+ others(57): Show c.-1+1141_-1+1142insGCATATATATGCATATATATGCATATATAT ATATGCATATAT	NHEJ1	ENSG00000187736.14	transcript	ENST00000356853.10	protein_coding	1/7			chr2	TogoVar
NHEJ1_chr2_219064357_219165815	219159590	T T	TATATATG others(35): Show TATATATGCATATATATATGCATATATATATGCATATATATGC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0146 a0001c0001t0008g0146	1	339	0.0029	42	c.-1+ others(57): Show c.-1+1129_-1+1130insGCATATATATGCATATATATATGCATATAT ATATGCATATAT	NHEJ1	ENSG00000187736.14	transcript	ENST00000356853.10	protein_coding	1/7			chr2	TogoVar
NHSL2_chrX_71905845_72158286	72048987	G G	GAGAAGAA others(35): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	154	0.0065	42	c.281 others(61): Show c.281-83065_281-83064insAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGA	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
NHSL2_chrX_71905845_72158286	72049009	A A	AGAAGAAG others(35): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0123 a0001c0001t0039g0123	1	43	0.0233	42	c.281 others(61): Show c.281-83065_281-83064insAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAGGAAGA	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
NIBAN2_chr9_127500343_127574073	127509772	C C	CCCCTCCT others(35): Show CCCCTCCTCTCCTTCCCTCCTTCCCTCCTCTCCTTCCCTCCTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02040.hp2 HG02615.hp2 others(1): Show HG00408.hp1 HG02040.hp2 HG02615.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0005 a0001c0001t0008	a0001c0001t0005g0053 a0001c0001t0005g0118 a0001c0001t0005g0119 others(1): Show a0001c0001t0005g0053 a0001c0001t0005g0118 a0001c0001t0005g0119 a0001c0001t0008g0307	4	318	0.0126	42	c.116 others(59): Show c.1161+332_1161+373dupAAGGAGGGAAGGAGAGGAGGGAAGGAGG GAAGGAGAGGAGGG	NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding	9/13			chr9	TogoVar
NINJ2_chr12_559296_668445	649531	G G	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	27	0.0370	42	c.33+ others(59): Show c.33+13796_33+13797insTATATATATATATATATATATATATATA TATATATATATATA	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NIPAL2_chr8_98184826_98299235	98280761	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG03492.hp1 HG02165.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0159 a0001c0002t0001g0158 a0001c0001t0001g0159 a0001c0002t0001g0158	2	38	0.0526	42	c.135 others(61): Show c.135+13241_135+13242insCTCTCTCTCTATATATATATATATAT ATATATATATATATAT	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	1/10			chr8	TogoVar
NIT2_chr3_100329757_100366635	100364725	A A	ACCCCCCC others(35): Show ACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0007 a0001c0001t0009g0007	1	396	0.0025	42	c.94 others(53): Show c.9457_*9458insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCC	NIT2	ENSG00000114021.12	transcript	ENST00000394140.9	protein_coding		3091		chr3	TogoVar
NKAIN1_chr1_31174745_31244887	31232424	T T	TATATATA others(35): Show TATATATATATATATATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	107	0.0093	42	c.54+ others(57): Show c.54+7069_54+7070insCTCTCTCTCTCTCTCTATATATATATATAT ATATATATATAT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31232424	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	107	0.0093	42	c.54+ others(57): Show c.54+7069_54+7070insCTCTCTCTCTATATATATATATATATATAT ATATATATATAT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKD2_chr5_1003802_1043943	1022342	T T	TGTCCCAG others(35): Show TGTCCCAGCCCATTGTCCCTGCTCTTCCTACCCGCTAGTGGGC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	136	0.0074	42	c.142 others(59): Show c.142-9807_142-9806insCCAGCCCATTGTCCCTGCTCTTCCTACC CGCTAGTGGGCGTC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1023283	T T	TAGTGGGT others(35): Show TAGTGGGTGTCTCAGCCCATTGTCCCTGCTCTTCCACCCGCTA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0075 a0001c0001t0007g0075	1	224	0.0045	42	c.142 others(59): Show c.142-8869_142-8868insAGTGGGTGTCTCAGCCCATTGTCCCTGC TCTTCCACCCGCTA	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NKD2_chr5_1003802_1043943	1023406	T T	TGTGGGTG others(35): Show TGTGGGTGCCCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCTA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03453.hp1 HG03471.hp1 others(1): Show HG02809.hp2 HG03453.hp1 HG03471.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0011 a0001c0001t0003 a0001c0005t0011	a0001c0001t0003g0006 a0001c0005t0011g0006 a0001c0005t0011g0115 a0001c0001t0003g0006 a0001c0005t0011g0006 a0001c0005t0011g0115	4	207	0.0193	42	c.142 others(59): Show c.142-8741_142-8740insTGCCCCAGCCCTTTGTCCCTGCTCTTCC CACCCGCTAGTGGG	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1023648	C C	CCGCTAGT others(35): Show CCGCTAGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0075 a0001c0001t0007g0075	1	318	0.0031	42	c.142 others(59): Show c.142-8503_142-8502insGCTAGTGGGCGTCTCAGCCCGTTGTCCC TGCTCTTCCCACTC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1023833	A A	ATTGTCCC others(35): Show ATTGTCCCTGCTCTTCCTACCCGCTAGTGGGCGTCTCAGCCCG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	238	0.0042	42	c.142 others(59): Show c.142-8303_142-8302insTACCCGCTAGTGGGCGTCTCAGCCCGTT GTCCCTGCTCTTCC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024595	T T	TGTGGGTG others(35): Show TGTGGGTGCCCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	313	0.0032	42	c.142 others(59): Show c.142-7552_142-7551insTGCCCCAGCCCATTGTCCCTGCTCTTCC CACCCGCTAGTGGG	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1026124	C C	CCAGCCCA others(35): Show CCAGCCCATTGTCCCTGCTCTTCCCACCCGCTAGTGGGCATAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA18747.hp1 HG04199.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0134 a0001c0001t0002g0042 a0001c0001t0002g0134	2	317	0.0063	42	c.142 others(59): Show c.142-5997_142-5996insAGTGGGCATATCAGCCCATTGTCCCTGC TCTTCCCACCCGCT	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1026148	C C	CACCCGCT others(35): Show CACCCGCTAGTGAGCATCTCAGCCCGTTGTCCCTGCTCTTCCT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0075 a0001c0001t0007g0075	1	318	0.0031	42	c.142 others(59): Show c.142-5997_142-5996insAGTGAGCATCTCAGCCCGTTGTCCCTGC TCTTCCTACCCGCT	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1026443	T T	TGTGGGCG others(35): Show TGTGGGCGTCTCAGCCCATTGTTCCTGCTCTTCCCACCCGCTA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0113 a0001c0001t0003g0113	1	318	0.0031	42	c.142 others(59): Show c.142-5688_142-5687insTCCTGCTCTTCCCACCCGCTAGTGGGCG TCTCAGCCCATTGT	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKX1-2_chr10_124440243_124455035	124444486	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0006 a0002c0004t0004g0006	1	346	0.0029	42	c.29 others(53): Show c.2942_*2943insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	NKX1-2	ENSG00000229544.9	transcript	ENST00000451024.5	protein_coding		756		chr10	TogoVar
NKX2-6_chr8_23696740_23711756	23708481	C C	CCTTCTTC others(35): Show CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19072.hp1 NA19000.hp1 NA19072.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0004 a0001c0002t0004g0004	2	375	0.0053	42	c.-18 others(53): Show c.-1884_-1883insAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAG	NKX2-6	ENSG00000180053.8	transcript	ENST00000325017.4	protein_coding		1726		chr8	TogoVar
NKX2-6_chr8_23696740_23711756	23708574	T T	TCTTCTTC others(35): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTCCTCCTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02145.hp2 NA19001.hp1 others(3): Show HG00639.hp2 HG02145.hp2 NA19001.hp1 NA19072.hp2 NA19081.hp1 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0009 a0001c0002t0004 a0001c0002t0009	a0001c0002t0004g0004 a0001c0002t0004g0014 a0001c0002t0009g0019 a0001c0002t0004g0004 a0001c0002t0004g0014 a0001c0002t0009g0019	6	260	0.0231	42	c.-19 others(53): Show c.-1977_-1976insGAGGAGGAGGAGGAGAAGAAGAAGAAGAAGAAGA AGAAGAAG	NKX2-6	ENSG00000180053.8	transcript	ENST00000325017.4	protein_coding		1819		chr8	TogoVar
NLGN4X_chrX_5885042_6233867	6090856	A A	AACCTCCT others(35): Show AACCTCCTACAATGCATAGGACACCTCCTACAATGCATAGGAC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03139.hp1 HG02897.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0019 a0001c0001t0002g0020	2	126	0.0159	42	c.472 others(61): Show c.472+60138_472+60139insGTCCTATGCATTGTAGGAGGTGTCCT ATGCATTGTAGGAGGT	NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	2/5			chrX	TogoVar
NLRP12_chr19_53788741_53829314	53823519	C C	CATATTTT others(35): Show CATATTTTAAAATATATATATTTTAAAACATATTTTAAAATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(190): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02622.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18957.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18967.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp2 NA19070.hp1 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0005 a0007 others(7): Show a0001 a0005 a0007 a0009 a0011 a0012 a0013 a0015 a0017 a0020	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0015 a0001c0017 a0001c0022 a0001c0039 a0005c0011 a0007c0013 a0009c0021 a0011c0014 a0012c0027 a0012c0028 a0013c0030 a0015c0025 a0017c0026 a0020c0029	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(24): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0016 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0011 a0001c0015t0001 a0001c0015t0013 a0001c0017t0001 a0001c0022t0001 a0001c0039t0001 a0005c0011t0001 a0007c0013t0001 a0009c0021t0002 a0011c0014t0001 a0012c0027t0006 a0012c0028t0006 a0013c0030t0001 a0015c0025t0001 a0017c0026t0001 a0020c0029t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(187): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0337 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0345 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0356 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0382 a0001c0001t0001g0384 a0001c0001t0001g0387 a0001c0001t0001g0399 a0001c0001t0006g0259 a0001c0001t0006g0277 a0001c0001t0006g0381 a0001c0001t0009g0240 a0001c0001t0009g0297 a0001c0001t0010g0014 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0229 a0001c0002t0001g0234 a0001c0002t0001g0248 a0001c0002t0001g0253 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0296 a0001c0002t0001g0301 a0001c0002t0001g0314 a0001c0002t0001g0324 a0001c0002t0001g0326 a0001c0002t0001g0327 a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0330 a0001c0002t0001g0331 a0001c0002t0001g0332 a0001c0002t0001g0333 a0001c0002t0001g0334 a0001c0002t0001g0335 a0001c0002t0001g0336 a0001c0002t0001g0339 a0001c0002t0001g0346 a0001c0002t0001g0350 a0001c0002t0001g0351 a0001c0002t0001g0352 a0001c0002t0001g0353 a0001c0002t0001g0354 a0001c0002t0001g0355 a0001c0002t0001g0358 a0001c0002t0001g0360 a0001c0002t0001g0362 a0001c0002t0001g0366 a0001c0002t0001g0376 a0001c0002t0001g0388 a0001c0002t0001g0389 a0001c0002t0001g0390 a0001c0002t0001g0392 a0001c0002t0001g0394 a0001c0002t0001g0395 a0001c0002t0001g0396 a0001c0002t0002g0140 a0001c0002t0006g0359 a0001c0002t0016g0220 a0001c0003t0001g0228 a0001c0003t0001g0231 a0001c0003t0001g0291 a0001c0003t0001g0293 a0001c0003t0001g0315 a0001c0003t0001g0323 a0001c0003t0001g0338 a0001c0003t0001g0342 a0001c0003t0001g0357 a0001c0003t0001g0361 a0001c0003t0001g0380 a0001c0003t0001g0385 a0001c0003t0001g0386 a0001c0003t0001g0397 a0001c0003t0002g0120 a0001c0003t0006g0232 a0001c0003t0006g0284 a0001c0003t0006g0299 a0001c0003t0011g0135 a0001c0015t0001g0244 a0001c0015t0013g0265 a0001c0017t0001g0398 a0001c0017t0001g0400 a0001c0022t0001g0321 a0001c0039t0001g0401 a0005c0011t0001g0264 a0007c0013t0001g0325 a0007c0013t0001g0343 a0007c0013t0001g0344 a0009c0021t0002g0121 a0011c0014t0001g0391 a0012c0027t0006g0393 a0012c0028t0006g0235 a0013c0030t0001g0221 a0015c0025t0001g0216 a0017c0026t0001g0317 a0020c0029t0001g0283	193	319	0.6050	42	c.289 others(57): Show c.289+366_289+367insATATTTTAAAATATGTTTTAAAATATATAT ATTTTAAAATAT	NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	1/9			chr19	TogoVar
NLRP13_chr19_55890945_55937336	55930874	T T	TTTTATAT others(35): Show TTTTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0016 a0016	a0016c0036 a0016c0036	a0016c0036t0001 a0016c0036t0001	a0016c0036t0001g0275 a0016c0036t0001g0275	1	311	0.0032	42	c.319 others(59): Show c.319+1118_319+1119insTATATATATATATATATATATATATATA TATATATATATAAA	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP3_chr1_247411173_247453817	247434047	G G	GGAGCTCT others(35): Show GGAGCTCTCTGGTCAGATGTGTTCTGAGGCCTTCTCTATTCCA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp2 HG01106.hp2 others(34): Show HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02647.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03209.hp2 HG03486.hp1 HG03579.hp1 HG03688.hp1 HG04184.hp1 HG04199.hp1 NA18522.hp2 NA18906.hp2 NA18985.hp1 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0002t0002 a0001c0005t0001 a0002c0007t0004 a0002c0007t0005	a0001c0001t0001g0057 a0001c0001t0001g0137 a0001c0001t0001g0321 others(32): Show a0001c0001t0001g0057 a0001c0001t0001g0137 a0001c0001t0001g0321 a0001c0001t0002g0094 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0324 a0001c0001t0003g0378 a0001c0001t0004g0021 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0293 a0001c0001t0004g0386 a0001c0001t0005g0189 a0001c0001t0005g0190 a0001c0001t0005g0192 a0001c0001t0005g0193 a0001c0001t0006g0022 a0001c0001t0006g0191 a0001c0001t0006g0197 a0001c0001t0006g0200 a0001c0001t0013g0204 a0001c0002t0002g0238 a0001c0005t0001g0298 a0001c0005t0001g0299 a0002c0007t0004g0109 a0002c0007t0005g0107 a0002c0007t0005g0108 a0002c0007t0005g0110 a0002c0007t0005g0111	37	201	0.1841	42	c.232 others(57): Show c.2322-41_2322-40insATGTGTTCTGAGGCCTTCTCTATTCCAGAG CTCTCTGGTCAG	NLRP3	ENSG00000162711.18	transcript	ENST00000336119.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NLRP8_chr19_55942832_55993629	55993557	C C	CCCCCTCC others(35): Show CCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0009 a0008c0015t0009	a0008c0015t0009g0233 a0008c0015t0009g0233	1	317	0.0032	42	c.56 others(53): Show c.5644_*5645insCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4929		chr19	TogoVar
NMBR_chr6_142069484_142152122	142079104	G G	GAGAAAGA others(35): Show GAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02922.hp2 HG02257.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0237 a0001c0001t0001g0174 a0001c0001t0001g0237	2	177	0.0113	42	c.423 others(57): Show c.423-202_423-201insTTCTTTCTTTCTTTCTTTCTTTCTTTCTCT CTCTCTCTTTCT	NMBR	ENSG00000135577.5	transcript	ENST00000258042.2	protein_coding	2/3			chr6	TogoVar
NME2_chr17_51161411_51176744	51170399	C C	CAAGGTGC others(35): Show CAAGGTGCTGGGATTACAGACATGAGCCACCGCACTTGGCCTG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	412	0.0024	42	c.341 others(57): Show c.341+353_341+394dupGGTGCTGGGATTACAGACATGAGCCACCGC ACTTGGCCTGAA	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr17	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(35): Show AAAAAAAAAAAATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	184	0.0054	42	c.48 others(53): Show c.4818_*4819insAAAAAAAAAAATATATATATATATATATATATAT ATATATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(35): Show AAAAAAAAAATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	184	0.0054	42	c.48 others(53): Show c.4818_*4819insAAAAAAAAATATATATATATATATATATATATAT ATATATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NME8_chr7_37843597_37905397	37847039	A A	ATCTCAGC others(35): Show ATCTCAGCCTGTGGATTAATCAGAAACTATTGTGAAAAATTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	388	0.0026	42	c.-19 others(53): Show c.-1930_-1929insTCTCAGCCTGTGGATTAATCAGAAACTATTGTGA AAAATTAT	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		1557		chr7	TogoVar
NME8_chr7_37843597_37905397	37847220	A A	AAGAAGAA others(35): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGACGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 NA18973.hp1 HG00673.hp1 NA18973.hp1	a0014 a0019 a0014 a0019	a0014c0032 a0019c0030 a0014c0032 a0019c0030	a0014c0032t0001 a0019c0030t0001 a0014c0032t0001 a0019c0030t0001	a0014c0032t0001g0136 a0019c0030t0001g0138 a0014c0032t0001g0136 a0019c0030t0001g0138	2	347	0.0058	42	c.-17 others(53): Show c.-1749_-1748insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GGAGACGG	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		1376		chr7	TogoVar
NME8_chr7_37843597_37905397	37882643	G G	GAAAGAAA others(35): Show GAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03942.hp1 NA18747.hp2 others(2): Show HG02523.hp2 HG03942.hp1 NA18747.hp2 NA18940.hp1 NA19081.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0008 others(1): Show a0001c0001 a0002c0002 a0002c0008 a0003c0003	a0001c0001t0003 a0002c0002t0001 a0002c0008t0001 others(1): Show a0001c0001t0003 a0002c0002t0001 a0002c0008t0001 a0003c0003t0001	a0001c0001t0003g0065 a0002c0002t0001g0139 a0002c0008t0001g0250 others(2): Show a0001c0001t0003g0065 a0002c0002t0001g0139 a0002c0008t0001g0250 a0003c0003t0001g0128 a0003c0003t0001g0133	5	218	0.0229	42	c.995 others(59): Show c.995-1659_995-1658insAAGAAAGAAAGAGAAAGAAAGAAAGAAA GAAAGAAAAAGAAA	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
NMNAT2_chr1_183243237_183423380	183364685	T T	TTCTTTCT others(35): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0069 a0001c0001t0006g0069	1	256	0.0039	42	c.85+ others(59): Show c.85+53497_85+53498insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGA	NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10			chr1	TogoVar
NOC4L_chr12_132139457_132157468	132149754	C C	CCACACCC others(35): Show CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA18983.hp1 HG02273.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0165 a0001c0001t0001g0020 a0001c0001t0001g0165	2	242	0.0083	42	c.901 others(57): Show c.901+859_901+860insCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCACTCCT	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150409	C C	CCACACCC others(35): Show CCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0052 a0001c0003t0001g0052	1	232	0.0043	42	c.902 others(57): Show c.902-572_902-571insCACACCCCTAATCCCCTCGGTGAGTGCGGC CGCCTCACTCCT	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150453	C C	CCACACCC others(35): Show CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0006 a0006	a0006c0034 a0006c0034	a0006c0034t0001 a0006c0034t0001	a0006c0034t0001g0071 a0006c0034t0001g0071	1	235	0.0043	42	c.902 others(57): Show c.902-528_902-527insCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCACTCCT	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NOL10_chr2_10565754_10694975	10587046	T T	TATATATA others(35): Show TATATATATACATATATATATACATATATATACATATATATAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01952.hp2 HG02080.hp1 others(10): Show HG01934.hp1 HG01952.hp2 HG02080.hp1 HG02293.hp1 NA18612.hp1 NA18943.hp1 NA18965.hp2 NA18981.hp1 NA18992.hp1 NA18993.hp2 NA18997.hp2 NA19004.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0049 others(10): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0101 a0001c0001t0001g0204	13	369	0.0352	42	c.184 others(61): Show c.1844+1955_1844+1996dupGTATATATATGTATATATATGTATAT ATATATGTATATATAT	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20			chr2	TogoVar
NOL10_chr2_10565754_10694975	10587098	C C	CATACACA others(35): Show CATACACATATATACATATATATATACATATATATACATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0011 a0003c0005t0011	a0003c0005t0011g0084 a0003c0005t0011g0084	1	313	0.0032	42	c.184 others(61): Show c.1844+1944_1844+1945insATATATGTATATATATGTATATATAT ATGTATATATGTGTAT	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20			chr2	TogoVar
NOL10_chr2_10565754_10694975	10587160	C C	CATATATA others(35): Show CATATATACACATATATATACATATATATACATATATACACAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	327	0.0031	42	c.184 others(61): Show c.1844+1882_1844+1883insATGTGTATATATGTATATATATGTAT ATATATGTGTATATAT	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20			chr2	TogoVar

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