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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCG others(186): Show CCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCC CAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCCC GGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0005 a0005	a0005c0026 a0005c0026	a0005c0026t0001 a0005c0026t0001	a0005c0026t0001g0045 a0005c0026t0001g0045	1	88	0.0114	193	c.171 others(210): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAG GGGTAAGGCCGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGG GTAAGGCCGGGCACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGG		LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13						chr22	TogoVar
LOC122319696_chrX_149409877_149420506	149418487	A A	ATATATAT others(186): Show ATATATATATATCATATATATAATATATATTATATTATATATATAATATA TATTATATTATATATATATCATATATATAATATATATTATATTATATATA TATCATATATATAATATATATTATATTATATATATATCATATATATAATA TATATTATATTATATATATATCATATATATAATATATATTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	105	0.0095	193	c.-30 others(204): Show c.-3011_-3010insATATAATATATATTATATATATGATATATATATA ATATAATATATATTATATATATGATATATATATAATATAATATATATTAT ATATATGATATATATATAATATAATATATATTATATATATGATATATATA TAATATAATATATATTATATATATAATATAATATATATTATATATATGAT ATATATATA		LOC122319696	ENSG00000287585.2	transcript	ENST00000653668.2	protein_coding					2982		chrX	TogoVar
LRRC23_chr12_6899822_6919229	6909085	A A	ATTATATA others(186): Show ATTATATATAATTATATATATTATATATTATATATAATATATAATATATA ATATATAATATATATTTATTAATAATATATATAATATATATATTTATTTA TATATATATTATTATATGTATATAAATATATATATTTATTAATATATATA AATATATATATTTATTAATAATATATATAATATATATATAATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0087 a0002c0002t0002g0087	1	302	0.0033	193	c.622 others(208): Show c.622-805_622-804insTTATATATAATTATATATATTATATATTAT ATATAATATATAATATATAATATATAATATATATTTATTAATAATATATA TAATATATATATTTATTTATATATATATTATTATATGTATATAAATATAT ATATTTATTAATATATATAAATATATATATTTATTAATAATATATATAAT ATATATATAATAT		LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7						chr12	TogoVar
LRRC23_chr12_6899822_6919229	6909094	T T	TTATATAA others(186): Show TTATATAATTATATATTATATTAAATATATATTATATATTATATATTATA TATAATTATATATATTATATAATTATATATTATATATTATATATTATATA TAATTATATATATTATATAATTATATATAATATATAATATATAATATATA ATTATATATAATATATAATATATATATTATTATATATATAATAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0013 a0002c0002t0004g0013	1	312	0.0032	193	c.622 others(208): Show c.622-790_622-789insATTATATATTATATTAAATATATATTATAT ATTATATATTATATATAATTATATATATTATATAATTATATATTATATAT TATATATTATATATAATTATATATATTATATAATTATATATAATATATAA TATATAATATATAATTATATATAATATATAATATATATATTATTATATAT ATAATAATATATA		LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr12	TogoVar
MADCAM1_chr19_491486_510343	510209	T T	TAAAAATA others(186): Show TAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGTGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0001 a0004c0015t0001	a0004c0015t0001g0186 a0004c0015t0001g0186	1	361	0.0028	193	c.52 others(204): Show c.5244_*5245insAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAAGTGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCG CAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAA		MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding					4867		chr19	TogoVar
MALRD1_chr10_19043801_19739478	19315545	A A	ACTATAAT others(186): Show ACTATAATTTATATAAATATATAACTATAATTTATATAAATATATAACTA TAATTTATATAAATATATAACTATAATTTATATAAATATATAAAAATATA AATATAATTTATATAAATATATAAATATTTATATATAAATATTTATATAT ATTTATATATAAATATTTATATATATTTATATAAATATATAAAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0084 a0084	a0084c0084 a0084c0084	a0084c0084t0003 a0084c0084t0003	a0084c0084t0003g0106 a0084c0084t0003g0106	1	142	0.0070	193	c.342 others(212): Show c.3420-8404_3420-8403insCTATAATTTATATAAATATATAACTA TAATTTATATAAATATATAACTATAATTTATATAAATATATAACTATAAT TTATATAAATATATAAAAATATAAATATAATTTATATAAATATATAAATA TTTATATATAAATATTTATATATATTTATATATAAATATTTATATATATT TATATAAATATATAAAT		MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39						chr10	TogoVar
MAP3K15_chrX_19355059_19520508	19478003	G G	GGAGAGAG others(186): Show GGAGAGAGGGGGGAGGGGAGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGG GGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGGAGGGGG AGAGGGGGGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGA GGGGGGAGGGGGGAGAGGGGGAGGGGGAGAGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	96	0.0104	193	c.525 others(210): Show c.525+8478_525+8479insTCCCCCCTCCCCCCTCTCCCCCTCCCCC TCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTC TCCCCCTCCCCCCTCTCCCCCTCCCCCCCTCTCCCCCCTCCCCCCTCTCC CCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCTCC CCTCCCCCCTCTCTC		MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28						chrX	TogoVar
MCC_chr5_113017106_113493453	113333836	T T	TATATATG others(186): Show TATATATGTACATATATGTACATATATGTACATATGTACAATGTACATAT ATGTACATATATGTACATATGTACATATATGTACATATATGTACATATGT ACATATATGTACATATATGTATATATGTACATATATGTATATATGTACAT ATATGTACATATATGTATATATGTACATATATGTATATATGTAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0009 a0009	a0009c0058 a0009c0058	a0009c0058t0007 a0009c0058t0007	a0009c0058t0007g0159 a0009c0058t0007g0159	1	129	0.0078	193	c.627 others(210): Show c.627+6682_627+6683insGTACATATATACATATATGTACATATAT ACATATATGTACATATATGTACATATATACATATATGTACATATATACAT ATATGTACATATATGTACATATGTACATATATGTACATATATGTACATAT GTACATATATGTACATATATGTACATTGTACATATGTACATATATGTACA TATATGTACATATAT		MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18						chr5	TogoVar
METRNL_chr17_83074609_83100122	83090371	A A	ACACACAC others(186): Show ACACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACACACCCCC CCCACACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACACA CACCCCCCGCCCCACACACACACACACCCCGCCCCACACACACACCCCCC GCCCCACACACACACACCCCGCCCCACACACACACCCCCCGCCC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0008 a0001c0003t0002g0008	1	377	0.0027	193	c.557 others(210): Show c.557-2789_557-2788insCCCCGCCCTGCCCCAGGGTGGGAGCCAC ACACACACACCCCCCCCACACACACACCCCGCCCCACACACACACCCCCC GCCCCACACACACACACCCCCCGCCCCACACACACACACACCCCGCCCCA CACACACACCCCCCGCCCCACACACACACACCCCGCCCCACACACACACC CCCCGCCCCACACAC		METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr17	TogoVar
MROH1_chr8_144143016_144266926	144203224	C C	CGGGGGGG others(186): Show CGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGAGCGCCCG CTGTCTGTGGAGGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGG GGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGAAGCGCCCGCTG TCTGTGGAGGGGCGGGGGGGGGGAAGCGCCCGCTGTCTGTGGAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0052 a0003c0003t0001g0052	1	100	0.0100	193	c.114 others(212): Show c.1141+2691_1141+2692insAGCGCCCGCTGTCTGTGGAGGGGCGG GGGGGGGAGCGCCCGCTGTCTGTGGAGGGGGGGGGGAGCGCCCGCTGTCT GTGGAGGGGCGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGG GGGAAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGAAGCGCCCGCTG TCTGTGGAGGGGGGGGG		MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43					INFO_REALIGN_3_PRIME	chr8	TogoVar
MSLN_chr16_755734_773862	767583	C C	CGTGGAGG others(186): Show CGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGC CGTGTGGGGGGGCGTGGAGGAGGGGCGTGTGGAGGGGGGCGCGTGGGGGG GGCGCATGGGGGGGCGTGGAGGGGGGTACCTAGATCGCGTGTTTGGAGGA GGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGGGGGGT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	385	0.0026	193	c.159 others(210): Show c.1596+120_1596+121insGGGGAGCGTGGGGGGCGTGGAGGAGGGG CGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTGGAGGG GGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTACCTAGATC GCGTGTTTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGT GGGGGGGTGTGGAGG		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767851	G G	GGAGGGGC others(186): Show GGAGGGGCGTGTGGAGGAGGGGCCCGTGGAGGAGGGGCGAGTGGGAGGAG GGGCGTGTGGAGGGGGGGCGAGTGGAGGAGCCCCGGTGGAGGGGCGCGTG GAGGAGGGGCGCGTGGAGGAGGGGCGAGCGGGAGGAGGGGCACGTGGAGG AGGGGCGAGCGGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG04115.hp1 HG02080.hp2 HG04115.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0179 a0004c0006t0001g0260 a0004c0006t0001g0179 a0004c0006t0001g0260	2	368	0.0054	193	c.159 others(210): Show c.1596+382_1596+383insAGGGGCGTGTGGAGGAGGGGCCCGTGGA GGAGGGGCGAGTGGGAGGAGGGGCGTGTGGAGGGGGGGCGAGTGGAGGAG CCCCGGTGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGAGCG GGAGGAGGGGCACGTGGAGGAGGGGCGAGCGGGAGGAGGGGCGCGTGGAG GAGGGGCGCGTGGAG		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
MUC4_chr3_195741771_195816929	195783354	A A	AAGGCTGG others(186): Show AAGGCTGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGACACTGAGGAAG CGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAAGG CTGGTGACAGGAAGAGGGGTGGCCTGTCCTGTGGATGCTGAGGAAGTGTC GGTGACAAGAAGAGGGATGGCGTGACCTGTGGATGCTGAGGAAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00621.hp2 HG00639.hp1 HG00741.hp2 others(13): Show HG00621.hp2 HG00639.hp1 HG00741.hp2 HG01167.hp2 HG01256.hp1 HG01261.hp1 HG02155.hp2 HG02602.hp1 HG03017.hp1 HG03704.hp1 HG03834.hp2 NA18974.hp1 NA19064.hp2 NA19066.hp1 NA19070.hp1 NA19074.hp1	a0003 a0020 a0097 others(1): Show a0003 a0020 a0097 a0117	a0003c0004 a0003c0006 a0003c0144 others(4): Show a0003c0004 a0003c0006 a0003c0144 a0003c0145 a0020c0025 a0097c0149 a0117c0150	a0003c0004t0003 a0003c0006t0003 a0003c0144t0003 others(4): Show a0003c0004t0003 a0003c0006t0003 a0003c0144t0003 a0003c0145t0003 a0020c0025t0003 a0097c0149t0003 a0117c0150t0003	a0003c0004t0003g0202 a0003c0004t0003g0203 a0003c0004t0003g0204 others(13): Show a0003c0004t0003g0202 a0003c0004t0003g0203 a0003c0004t0003g0204 a0003c0004t0003g0207 a0003c0004t0003g0214 a0003c0004t0003g0221 a0003c0006t0003g0104 a0003c0006t0003g0106 a0003c0006t0003g0211 a0003c0006t0003g0213 a0003c0144t0003g0210 a0003c0145t0003g0216 a0020c0025t0003g0217 a0020c0025t0003g0218 a0097c0149t0003g0209 a0117c0150t0003g0215	16	248	0.0645	193	c.822 others(202): Show c.8225_8226insCTTCCTCAGCATCCACAGGTCACGCCATCCCTCTTC TTGTCACCGACACTTCCTCAGCATCCACAGGACAGGCCACCCCTCTTCCT GTCACCAGCCTTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCCTGT CACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTCTTCCTGTCA CCAGCCT	p.Ser others(6): Show p.Ser2743fs	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8337/16756	8225/16239	2742/5412			chr3	TogoVar
MYNN_chr3_169768396_169794716	169770419	T T	TATAAATA others(186): Show TATAAATATAAATATATAAAAATTTATATTTATATTTATTATATGTATAA ATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATATA AAAATTTATATTTATATATCATAAATATAAATATATAAAAATTTATATTT ATATATCATAAATATAAATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	345	0.0029	193	c.-30 others(204): Show c.-3075_-3074insATAAATATAAATATATAAAAATTTATATTTATAT TTATTATATGTATAAATATAAATATATAAAAATTTATATTTATATATCAT AAATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATA TAAAAATTTATATTTATATATCATAAATATAAATATATAAAAATTTATAT TTATATATC		MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding					2976		chr3	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCCCCG others(186): Show CCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCC CAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCCC GGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	86	0.0116	193	c.-41 others(204): Show c.-4100_-4099insCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGG GCTCCACACCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCA CACCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA CCCCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCAC ACCCCCCCT		NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding					3985		chr22	TogoVar
NCS1_chr9_130167404_130242303	130221881	A A	AATATAAA others(186): Show AATATAAATTATGTATATATAAATATATATACATAATATAAATTATGTAT ATATAAATATATATACATAATATAAATTATGTATATATAAATATATATAC ATAATATAAATTATGTATATATAAATATACATAATATAAATTATGTATAT ATAAATATATATACATAATATAAATTATGTATATATAAATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0126 a0001c0002t0126	a0001c0002t0126g0153 a0001c0002t0126g0153	1	24	0.0417	193	c.308 others(208): Show c.308-766_308-765insTAAATTATGTATATATAAATATATATACAT AATATAAATTATGTATATATAAATATATATACATAATATAAATTATGTAT ATATAAATATATATACATAATATAAATTATGTATATATAAATATACATAA TATAAATTATGTATATATAAATATATATACATAATATAAATTATGTATAT ATAAATATATATA		NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
NDUFV3_chr21_42888309_42918299	42896313	T T	TGCCCGGC others(186): Show TGCCCGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAATGGCGC AATCTCGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG01070.hp1 others(5): Show HG00099.hp1 HG00323.hp1 HG01070.hp1 HG01071.hp2 HG01243.hp1 HG03490.hp2 HG03492.hp2 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0023 a0002c0002t0011 a0002c0002t0023	a0002c0002t0011g0026 a0002c0002t0011g0027 a0002c0002t0011g0090 others(3): Show a0002c0002t0011g0026 a0002c0002t0011g0027 a0002c0002t0011g0090 a0002c0002t0011g0091 a0002c0002t0011g0093 a0002c0002t0023g0043	8	344	0.0233	193	c.49- others(206): Show c.49-590_49-589insTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAATGGCGCAATCTCG GCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTT		NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr21	TogoVar
NEDD4L_chr18_58039226_58406539	58209212	T T	TTCTCCTC others(186): Show TTCTCCTCCACCTCCACCTCCTCCTCCCTCTCCTCCTCCTCCCCCTCCTC CTCGTCCTCTACCTCCTCCTCCTCCACCACCTCCATCTGCTCCTCCTCCT CCCCCTCACCTCCCCCTCCGCTCCTCCTCCCTCTCCTCCTCCCCCTCCAC CTCCACCTCTTCCTCCCCACCTCCTCCCCACCCCCTCCTTCTCA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0091 a0001c0001t0007g0091	1	116	0.0086	193	c.123 others(212): Show c.123-36215_123-36214insTCTCCTCCACCTCCACCTCCTCCTCC CTCTCCTCCTCCTCCCCCTCCTCCTCGTCCTCTACCTCCTCCTCCTCCAC CACCTCCATCTGCTCCTCCTCCTCCCCCTCACCTCCCCCTCCGCTCCTCC TCCCTCTCCTCCTCCCCCTCCACCTCCACCTCTTCCTCCCCACCTCCTCC CCACCCCCTCCTTCTCA		NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30						chr18	TogoVar
NEU4_chr2_241804193_241822413	241805292	C C	CCCCCCTC others(186): Show CCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAAC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCTCC CTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCTCCCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	311	0.0032	193	c.-39 others(204): Show c.-3986_-3985insCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCT CCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAACCCAGGGA CCTCCGCAGGCCTCCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCC TCCCTCCCT		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3900		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805331	C C	CCCCCTCA others(186): Show CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0005 a0002c0003t0002g0005	1	314	0.0032	193	c.-39 others(204): Show c.-3947_-3946insCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCC ACCCTCCCT		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3861		chr2	TogoVar
NLRP8_chr19_55942832_55993629	55993491	C C	CTCCCCCC others(186): Show CTCCCCCCTCCCTCCCCCTCTCCCCCCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCC CCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0018 a0005c0014t0018	a0005c0014t0018g0020 a0005c0014t0018g0020	1	332	0.0030	193	c.55 others(204): Show c.5578_*5579insTCCCCCCTCCCTCCCCCTCTCCCCCCCCCTCCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCC TCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCT		NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding					4863		chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993508	C C	CCCCCCCT others(186): Show CCCCCCCTCTCCCCCCCCTCTCCCCCCCCTCTCCCCCCCCTCTCCCCCCC CTCCCCCACCTCTCCCCCCTCTCCCCCCCTCCCCCCCTCCCCCCCTCCCC CCTCTCCCCCTCCCTCCCCCTCCCCCCTCTCCCCCTCCCCCCTCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0230 a0002c0003t0008g0230	1	299	0.0033	193	c.55 others(204): Show c.5595_*5596insCCCCCCTCTCCCCCCCCTCTCCCCCCCCTCTCCC CCCCCTCTCCCCCCCCTCCCCCACCTCTCCCCCCTCTCCCCCCCTCCCCC CCTCCCCCCCTCCCCCCTCTCCCCCTCCCTCCCCCTCCCCCCTCTCCCCC TCCCCCCTCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCT		NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding					4880		chr19	TogoVar
NOC2L_chr1_939203_964256	939398	G G	GCCTCCCC others(186): Show GCCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCAC CTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCTCCCCTCATCACC TCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCACCTC CCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0092 a0001c0013t0001g0092	1	376	0.0027	193	c.52 others(204): Show c.5295_*5296insTGATGAGGGGGATCATGCCAGGGTGGGTCCTCAC CGTGGCTGGGGAGGTGATGAGGGGGATCATGCCAGGGTGGGTCCTCACCG TGGCTGGGGAGGTGATGAGGGGAGATCATGCCAGGGTGGGTCCTCACCGT GGCTGGGGAGGTGATGAGGGGGATCATGCCAGGGTGGGTCCTCACCGTGG CTGGGGAGG		NOC2L	ENSG00000188976.11	transcript	ENST00000327044.7	protein_coding					4804		chr1	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(186): Show ATATATAATATATATTATATATATAAAGTATATATAATATATATAATATA TATTATATATATAAAGTATATATATAATATATATAATATATATTATATAT ATAAAGTATATATATAATATATATTATATATAAAGTATATATATAATATA TATTATATATATATAAAATATATAATATATATTATATATATAAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00597.hp2 others(29): Show HG00408.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00673.hp1 HG02015.hp2 HG02040.hp1 HG02135.hp1 HG02165.hp2 HG02523.hp2 HG02602.hp2 HG02738.hp1 HG03710.hp1 NA18945.hp1 NA18963.hp1 NA18969.hp1 NA18981.hp1 NA18986.hp1 NA18987.hp2 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19009.hp1 NA19011.hp1 NA19055.hp2 NA19062.hp1 NA19064.hp2 NA19081.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0018 others(1): Show a0001c0001 a0001c0007 a0001c0018 a0001c0020	a0001c0001t0001 a0001c0007t0001 a0001c0018t0001 others(1): Show a0001c0001t0001 a0001c0007t0001 a0001c0018t0001 a0001c0020t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 others(29): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0152 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0007t0001g0018 a0001c0007t0001g0036 a0001c0007t0001g0042 a0001c0007t0001g0043 a0001c0007t0001g0044 a0001c0007t0001g0180 a0001c0007t0001g0283 a0001c0018t0001g0045 a0001c0020t0001g0047	32	33	0.9697	193	c.730 others(210): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATATAATATATATTATATATATTATATATATA CTTTATATATATAATATATATTATATATATTATATATACTTTATATATAT AATATATATTATATA		NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22						chr11	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATTA others(186): Show ATATATTATATATATTATATATATAAAGTATATATAATATATATAATATA TATTATATATATAAAGTATATATATAATATATATAATATATATTATATAT ATAAAGTATATATATAATATATATTATATATAAAGTATATATATAATATA TATTATATATATATAAAATATATAATATATATTATATATATAAG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0039 a0001c0001t0014g0039	1	2	0.5000	193	c.730 others(210): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATATAATATATATTATATATATTATATATATA CTTTATATATATAATATATATTATATATATTATATATACTTTATATATAT AATATATATAATATA		NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22						chr11	TogoVar
NUTM2F_chr9_94313198_94333644	94313275	A A	AATATTAT others(186): Show AATATTATATATATATTATATATATGATATAATATATATATAGTATATAT TATATAATATATATAATATATATAATATATATTATATAATATATATATAT TATATATTATATAATTATATAATATATAATATAATATAAAATATAATATA TTATATAAAATATAATATATTATATTATATATAATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	187	0.0053	193	c.51 others(204): Show c.5189_*5190insATATAATATATTATATATAATATAATATATTATA TTTTATATAATATATTATATTTTATATTATATTATATATTATATAATTAT ATAATATATAATATATATATATTATATAATATATATTATATATATTATAT ATATTATATAATATATACTATATATATATTATATCATATATATAATATAT ATATAATAT		NUTM2F	ENSG00000130950.15	transcript	ENST00000253262.9	protein_coding					4922		chr9	TogoVar
NXN_chr17_794310_984776	841514	A A	AGCAGGTC others(186): Show AGCAGGTCCCCCCGACCACAGCGCATCTCATGCCGGCGAGCAGGTCCCCC CGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCG CATCTCATGCCGGCGAGCAGGTCCACCCTGACCACAGCGCATCTCACATG GGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACCCACGG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0224 a0001c0001t0004g0224	1	239	0.0042	193	c.361 others(212): Show c.361-15437_361-15436insCCGTGGGTGTGAGATGCGCCGTGGTC AGGGTGGACCTGCTCGCCCATGTGAGATGCGCTGTGGTCAGGGTGGACCT GCTCGCCGGCATGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTG TGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCGGCATGAGATGCGCTG TGGTCGGGGGGACCTGC		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	841526	C C	CGACCACA others(186): Show CGACCACAGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACAGCG CATCTCACACCCGCGAGCAGGTCCCCCCGACCACAGAGCATCTCACACGG GCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTC CTCCCGACCATGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	173	0.0058	193	c.361 others(212): Show c.361-15449_361-15448insAGGGGGGACCTGCTCGCCGGCGTGAG ATGCTCCATGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGT CAGGGTGGACCTGCTCGCCCGTGTGAGATGCTCTGTGGTCGGGGGGACCT GCTCGCGGGTGTGAGATGCGCTGTGGTCAGGGTGGACCTGCTCGCCCGTG TGAGATGCTCTGTGGTC		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	841597	T T	TCCACCCT others(186): Show TCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGAC CACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCATGGAGCATCT CACGCCGGCGAGCAGGTCCCCCCGACCACAGAGCATCTCACACGGGCGAG CAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	239	0.0042	193	c.361 others(212): Show c.361-15520_361-15519insGACCTGCTCGCCCGTGTGAGATGCGC CGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCTCTGTGGTCGGGGG GACCTGCTCGCCGGCGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCG GGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATG CGCCGTGGTCAGGGTGG		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	948946	T T	TCCTCTCC others(186): Show TCCTCTCCCCCTGCCTCCTCCTCTCCCCGCTCTGCCTCCTCCTCTCCCCC TGCCTCCTCCTCTCACCCGCGGCCTCCTCCTCTCCCCCCCTGCCCTCCTC CTCTCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCGGC CTCCTCCTCTCCCCCCGGGCCTCCTCCTCTCCCCCGCCATCCTC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	240	0.0042	193	c.360 others(212): Show c.360+30372_360+30373insGAGGATGGCGGGGGAGAGGAGGAGGC CCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAGAG GAGGAGGCCGGGGGAGAGGAGGAGGGCAGGGGGGGAGAGGAGGAGGCCGC GGGTGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGAGCGGGGAGAGGA GGAGGCAGGGGGAGAGG		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	949161	C C	CCCCTGCC others(186): Show CCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTC CTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCGCTGC CTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCC GCCCCTGCCCTCCTCCTCCTCCCCCCCTGCCCTCCTCCTCTCCT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0123 a0001c0001t0006g0123	1	240	0.0042	193	c.360 others(212): Show c.360+30157_360+30158insAGGAGAGGAGGAGGGCAGGGGGGGAG GAGGAGGAGGGCAGGGGCGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGG CAGGGGGGAGAGGAGGAGGCAGCGGGGAGAGGAGGAGGCAGGGGGAGAGG AGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGG GAGAGGAGGAGGCAGGG		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	952570	A A	AGTCAGAG others(186): Show AGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACAGACGGTCACAC TGTGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACC ACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGG AACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	193	0.0052	193	c.360 others(212): Show c.360+26748_360+26749insCCCAGCCCCCCCACAGTGTGACCGTC CGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCC CACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCT GACCCCAGCCCCCCCACAGTGTGACCGTCTGTGGTACCTGCCGGGTTCCA ACCTTGGTCTCTCTGAC		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	952751	G G	GGGGGGGG others(186): Show GGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCAC GGACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAA CCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGACA GACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0055 a0001c0001t0005g0055	1	154	0.0065	193	c.360 others(212): Show c.360+26567_360+26568insACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCG TCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCC CCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGT CTGACTCCAGCCCCCCC		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
OR11H4_chr14_20234286_20249349	20235406	G G	GAGTTTTT others(186): Show GAGTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TATTTTTTTTTTTTTTTTATTTTTTTTTAATTTAATTTTGTATTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGATTTGTTTTTATTTTAATTTTTTTTT TTTTTTTTTTTTTTTTATTTTTTTTAGTTTAATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0247	1	438	0.0023	193	c.-39 others(204): Show c.-3937_-3936insAGTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTATTTTTTTTTAATTTAA TTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGATTTGTTTTTA TTTTAATTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTAGTTTAATAT TTTTTTTTT		OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding					3879		chr14	TogoVar
OR4F5_chr1_60419_76585	66249	A A	ATATATAA others(186): Show ATATATAATATATATATTATATATATTATATATATTATATATATTATATA TAATATATATAATATAATATATTTTATATATATATAATATATTATATAAT ATAATATATATATTATATATATAATATATATATAATATAATATAATATAA TATATTATATTATATAATATATGATATAAATATAATATATATTT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0003 a0003c0007t0003	a0003c0007t0003g0045 a0003c0007t0003g0045	1	191	0.0052	193	c.9+6 others(204): Show c.9+678_9+679insTATAATATATATATTATATATATTATATATATTA TATATATTATATATAATATATATAATATAATATATTTTATATATATATAA TATATTATATAATATAATATATATATTATATATATAATATATATATAATA TAATATAATATAATATATTATATTATATAATATATGATATAAATATAATA TATATTTTA		OR4F5	ENSG00000186092.7	transcript	ENST00000641515.2	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(186): Show AGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGA GGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGG GGAGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	62	0.0161	193	c.155 others(210): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTC CCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCTTCCCTTCCC		PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14						chr11	TogoVar
PCDHGA1_chr5_141325514_141517975	141407491	A A	ATTTCTGT others(186): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0245 a0003c0004t0001g0245	1	244	0.0041	193	c.242 others(214): Show c.2421+74400_2421+74401insTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GCATTTTTCTGTTTTTCTT		PCDHGA1	ENSG00000204956.6	transcript	ENST00000517417.3	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA2_chr5_141333760_141517975	141407491	A A	ATTTCTGT others(186): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	248	0.0040	193	c.242 others(214): Show c.2424+66110_2424+66111insTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GCATTTTTCTGTTTTTCTT		PCDHGA2	ENSG00000081853.15	transcript	ENST00000394576.3	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA3_chr5_141338829_141517975	141407491	A A	ATTTCTGT others(186): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0044 a0003c0003t0001g0044	1	246	0.0041	193	c.242 others(214): Show c.2424+61048_2424+61049insTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GCATTTTTCTGTTTTTCTT		PCDHGA3	ENSG00000254245.3	transcript	ENST00000253812.8	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA4_chr5_141350021_141517975	141407491	A A	ATTTCTGT others(186): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0249 a0002c0002t0001g0249	1	250	0.0040	193	c.251 others(214): Show c.2514+49884_2514+49885insTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GCATTTTTCTGTTTTTCTT		PCDHGA4	ENSG00000262576.3	transcript	ENST00000571252.3	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA5_chr5_141359162_141517975	141407491	A A	ATTTCTGT others(186): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0131 a0001c0002t0001g0131	1	268	0.0037	193	c.242 others(214): Show c.2421+40754_2421+40755insTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GCATTTTTCTGTTTTTCTT		PCDHGA5	ENSG00000253485.3	transcript	ENST00000518069.2	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA6_chr5_141368891_141517975	141407491	A A	ATTTCTGT others(186): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0273 a0001c0002t0001g0273	1	268	0.0037	193	c.242 others(214): Show c.2424+30998_2424+30999insTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GCATTTTTCTGTTTTTCTT		PCDHGA6	ENSG00000253731.3	transcript	ENST00000517434.3	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA7_chr5_141377742_141517975	141407491	A A	ATTTCTGT others(186): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	268	0.0037	193	c.242 others(214): Show c.2424+22182_2424+22183insTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GCATTTTTCTGTTTTTCTT		PCDHGA7	ENSG00000253537.3	transcript	ENST00000518325.2	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA8_chr5_141387633_141517975	141407491	A A	ATTTCTGT others(186): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	278	0.0036	193	c.242 others(214): Show c.2424+12268_2424+12269insTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GCATTTTTCTGTTTTTCTT		PCDHGA8	ENSG00000253767.3	transcript	ENST00000398604.3	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA9_chr5_141397778_141517975	141407491	A A	ATTTCTGT others(186): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0272 a0001c0005t0001g0272	1	278	0.0036	193	c.242 others(212): Show c.2424+2129_2424+2130insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGC ATTTTTCTGTTTTTCTT		PCDHGA9	ENSG00000261934.3	transcript	ENST00000573521.2	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB1_chr5_141345099_141517975	141407491	A A	ATTTCTGT others(186): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0029 a0002c0004t0001g0029	1	255	0.0039	193	c.240 others(214): Show c.2409+54836_2409+54837insTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GCATTTTTCTGTTTTTCTT		PCDHGB1	ENSG00000254221.3	transcript	ENST00000523390.2	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB2_chr5_141354994_141517975	141407491	A A	ATTTCTGT others(186): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0278 a0003c0003t0001g0278	1	264	0.0038	193	c.242 others(214): Show c.2421+44949_2421+44950insTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GCATTTTTCTGTTTTTCTT		PCDHGB2	ENSG00000253910.3	transcript	ENST00000522605.2	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB3_chr5_141365242_141517975	141407491	A A	ATTTCTGT others(186): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0280 a0003c0003t0001g0280	1	272	0.0037	193	c.241 others(214): Show c.2415+34696_2415+34697insTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GCATTTTTCTGTTTTTCTT		PCDHGB3	ENSG00000262209.3	transcript	ENST00000576222.2	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB4_chr5_141382698_141517975	141407491	A A	ATTTCTGT others(186): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	271	0.0037	193	c.239 others(214): Show c.2397+17224_2397+17225insTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GCATTTTTCTGTTTTTCTT		PCDHGB4	ENSG00000253953.3	transcript	ENST00000519479.2	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB5_chr5_141392947_141517975	141407491	A A	ATTTCTGT others(186): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	276	0.0036	193	c.239 others(212): Show c.2397+6981_2397+6982insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGC ATTTTTCTGTTTTTCTT		PCDHGB5	ENSG00000276547.2	transcript	ENST00000617380.2	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar

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