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
LMF1_chr16_848634_975984	962016	G G	GACAGACT others(181): Show GACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACG GTGACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGG GATCACGACCCAGACAGACTCACGGTGACAGCACGGGATCACGACCCAGA CACAGACTCACGGTGACAGCACGGGATCACGACCCAGAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0120 a0002c0007t0001g0120	1	254	0.0039	188	c.194 others(205): Show c.194-7351_194-7350insGTCTGGGTCGTGATCCCGTGCTGTCACC GTGAGTCTGTGTCTGGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTCT GGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTGTCTGGGTCGTGATCC CGTGCTGTCACCGTGAGTCTGTGTCTGGGTCGTGATCCCGTGCTGTCACC GTGAGTCTGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LMF1_chr16_848634_975984	962054	C C	CACAGACT others(181): Show CACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACG GTGACAGCACGGGATCACGACCCAGACAGACTCACGGTGACAGCACGGGA TCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCAGA CACAGACTCACGGTGACAGCACGGGATCACGACCCAGAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0109 a0001c0005t0001g0109	1	292	0.0034	188	c.194 others(205): Show c.194-7389_194-7388insGTCTGGGTCGTGATCCCGTGCTGTCACC GTGAGTCTGTGTCTGGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTGT CTGGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTCTGGGTCGTGATCC CGTGCTGTCACCGTGAGTCTGTGTCTGGGTCGTGATCCCGTGCTGTCACC GTGAGTCTGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LRCH1_chr13_46548170_46749898	46652055	G G	GTTTTGTT others(181): Show GTTTTGTTTTTTTTGTTTTGTTTTGTTTTGTTTGTTTTGAGACGGAGTCT TGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCGGCCACCAGGCCTGCTGATGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02572.hp1 HG01109.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0225 a0001c0001t0004g0238 a0001c0001t0004g0225 a0001c0001t0004g0238	2	216	0.0093	188	c.452 others(205): Show c.452+1714_452+1715insGTTTTTTTTGTTTTGTTTTGTTTTGTTT GTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGC GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCGGCCACCAGGCCTGC TGATGTTTTT	LRCH1	ENSG00000136141.15	transcript	ENST00000389797.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
LRRC27_chr10_132327193_132386508	132364566	C C	CACCCTTA others(181): Show CACCCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTCACA CCCACACTTACATCTACCTCCACACCCACACTTACACCCACGCTTACATC TACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACA TCTACCTCCACACCCACACTCACACCCACCCTTACATCT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0112 a0001c0001t0017g0112	1	287	0.0035	188	c.129 others(205): Show c.1290-856_1290-855insCCTTACATCTACCTCCACACCCACACTT ACACCCACCCACACTCACACCCACACTTACATCTACCTCCACACCCACAC TTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCC TTACATCTAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132364652	A A	ACTTACAC others(181): Show ACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACCC ACAATTACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCAC GCTTACATCTACCTCCACACCCACACTTACACCCACGCTTACATCTACCT CCACACCCACACTTACACCCACCCACACTTACACCCACG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0016 a0002c0004t0016	a0002c0004t0016g0026 a0002c0004t0016g0026	1	252	0.0040	188	c.129 others(205): Show c.1290-766_1290-765insCCCACGCTTACATCTACCTCCACACCCA CACTTACACCCACCCACAATTACACCCACCCTTACATCTACCTCCACACC CACACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCA CGCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTTACACC CACGCTTACA	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MACROD2_chr20_13990516_16058197	14862396	T T	TAAATATA others(181): Show TAAATATATATAAATATATATATAAATATATATAAATATATATATAAATA TATATATAAATATATATATAAATATATATAAATATATATAAATATATATA TAAATATATATAAATATATATATAAATATATATATAAATATATATAAATA TATATAAATATATATATAAATATATATAAATATATATAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0008	1	16	0.0625	188	c.418 others(209): Show c.418+177438_418+177439insAATATATATAAATATATATATAAA TATATATAAATATATATATAAATATATATATAAATATATATATAAATATA TATAAATATATATAAATATATATATAAATATATATAAATATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATAAA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MAGEF1_chr3_184705364_184717064	184712991	G G	GCCTTCCT others(181): Show GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0000 a0003c0003t0002g0000	1	360	0.0028	188	c.-11 others(199): Show c.-1171_-1170insAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAA GGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGG	MAGEF1	ENSG00000177383.5	transcript	ENST00000317897.5	protein_coding		928		chr3	TogoVar
MAGEF1_chr3_184705364_184717064	184712993	C C	CTTCCTTC others(181): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	350	0.0029	188	c.-11 others(199): Show c.-1173_-1172insAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAG AAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAA	MAGEF1	ENSG00000177383.5	transcript	ENST00000317897.5	protein_coding		930		chr3	TogoVar
MAGI3_chr1_113385515_113690923	113416469	T T	TTAATTTT others(181): Show TTAATTTTATATATTAATTCTATATAGTTAATTATATATTAATTACAGTT AATATATATTAATATATAACTATATATTAATTATATATATTAATATATAT AATATATATTAATTATATATATTAATATATATTAATTATATATATTAATA TATATTAATTATATATATTAATTATATATATTTATATAG	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18971.hp2 HG02083.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0079 a0001c0001t0003g0066 a0001c0001t0003g0079	2	76	0.0263	188	c.316 others(207): Show c.316+25121_316+25122insAATTTTATATATTAATTCTATATAGT TAATTATATATTAATTACAGTTAATATATATTAATATATAACTATATATT AATTATATATATTAATATATATAATATATATTAATTATATATATTAATAT ATATTAATTATATATATTAATATATATTAATTATATATATTAATTATATA TATTTATATAGT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAGI3_chr1_113385515_113690923	113416469	T T	TTAATTTT others(181): Show TTAATTTTATATATTAATTCTATATAGTTAATTATATATTAATTACAGTT AATATATATTAATATATAACTATATATTAATTATATATATTAATATATAT TAATATATATTAATATATATATTAATATATATTAATTATATATATTAATA TATATTAATTATATATATTAATTATATATATTTATATAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	75	0.0133	188	c.316 others(207): Show c.316+25121_316+25122insAATTTTATATATTAATTCTATATAGT TAATTATATATTAATTACAGTTAATATATATTAATATATAACTATATATT AATTATATATATTAATATATATTAATATATATTAATATATATATTAATAT ATATTAATTATATATATTAATATATATTAATTATATATATTAATTATATA TATTTATATAGT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP3K13_chr3_185358136_185494094	185453934	G G	GATATATA others(181): Show GATATATATGTGATACATATATATGAGATATATATGTGATACATATATAT GAGATATATATGTGATGATACATATATATGAGATATATATGTGATGATAC ATATATATGAGATATATATGTGATACATATATATGAGATATATATGTGAT ACATATATATGAGATATATATGATACATATATATGAGAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01978.hp2 HG02056.hp1 others(6): Show HG01081.hp1 HG01978.hp2 HG02056.hp1 HG03710.hp1 HG06807.hp2 NA18952.hp2 NA18962.hp1 NA18977.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0028 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0028 a0001c0002t0001 a0001c0002t0004 a0001c0002t0026 a0001c0004t0001	a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0028g0037 others(6): Show a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0028g0037 a0001c0002t0001g0124 a0001c0002t0001g0166 a0001c0002t0004g0049 a0001c0002t0026g0241 a0001c0004t0001g0079 a0001c0004t0001g0263	9	167	0.0539	188	c.127 others(207): Show c.1278+2548_1278+2549insTGATACATATATATGAGATATATATG TGATACATATATATGAGATATATATGTGATGATACATATATATGAGATAT ATATGTGATGATACATATATATGAGATATATATGTGATACATATATATGA GATATATATGTGATACATATATATGAGATATATATGATACATATATATGA GATATATATATG	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185453941	A A	ATGTGATA others(181): Show ATGTGATACATATATATGAGATATATATGTGATACATATATATGAGATAT ATATGTGATGATACATATATATGAGATATATATGTGATGATACATATATA TGAGATATATATGTGATACATATATATGAGATATATATGTGATACATATA TATGAGATATATATGATACATATATATGAGATATATATG	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0097	1	226	0.0044	188	c.127 others(207): Show c.1278+2548_1278+2549insTGATACATATATATGAGATATATATG TGATACATATATATGAGATATATATGTGATGATACATATATATGAGATAT ATATGTGATGATACATATATATGAGATATATATGTGATACATATATATGA GATATATATGTGATACATATATATGAGATATATATGATACATATATATGA GATATATATGTG	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAPK11_chr22_50258713_50275380	50274790	C C	CCCCCAGC others(181): Show CCCCCAGCTCCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCA GCCCCCCCTCCACCTCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCC CAGCACCCCTCCCAGCCCCCCCTCCACCTCCCCCAGTATCCCTCCCAGCC CCCTCCACCTCCCAGCACCACCCCCAGCCCCCTCCACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0006 a0007c0008t0006	a0007c0008t0006g0103 a0007c0008t0006g0103	1	422	0.0024	188	c.-44 others(199): Show c.-4499_-4498insAGGTGGAGGGGGCTGGGGGTGGTGCTGGGAGGTG GAGGGGGCTGGGAGGGATACTGGGGGAGGTGGAGGGGGGGCTGGGAGGGG TGCTGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGAGGTGGAGGG GGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGAGCT GGGG	MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding		4411		chr22	TogoVar
MBOAT7_chr19_54168415_54194580	54181993	G G	GGGAGGGA others(181): Show GGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGAAGGAAG GAGGGAAGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGAGGGA AGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAG GAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp1 HG02109.hp1 HG02559.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0006 a0002c0003t0006 a0001c0001t0006 a0002c0003t0006	a0001c0001t0006g0286 a0002c0003t0006g0299 a0001c0001t0006g0286 a0002c0003t0006g0299	2	111	0.0180	188	c.494 others(203): Show c.494-861_494-860insTTCCTTCCCTCCCTCCTTCCTTCCCTCCTT CCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCCTCCCTCCCTCC CTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCTT CCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCC TTCCCTCC	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	5/7			chr19	TogoVar
MDM2_chr12_68803177_68850544	68833280	A A	AATATAAA others(181): Show AATATAAATATATATATTTATATAAATATAAAAATATATTTATATAATTA TATATTTATATAAATATAAATATATATATTTATATAAATATAAAAATATA TTTATATAAATATAAATATATATATTTATATAAATATAAAAATATATTTA TATAAATATATATATTTATATAAATATAAAAATATATTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0160 a0001c0002t0008g0160	1	238	0.0042	188	c.685 others(205): Show c.685-2512_685-2511insTTTATATAATTATATATTTATATAAATA TAAATATATATATTTATATAAATATAAAAATATATTTATATAAATATAAA TATATATATTTATATAAATATAAAAATATATTTATATAAATATATATATT TATATAAATATAAAAATATATTTATATAAATATATATATTTATATAAATA TAAAAATATA	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
MELTF_chr3_196996740_197034817	197000591	A A	ACCGTGTG others(181): Show ACCGTGTGCCAAGCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATGCC ATGTGCCAAGCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATGCCATG TGCCAAGCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATGCCGTGTGC CAAGCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02965.hp1 HG06807.hp2 others(1): Show HG02109.hp1 HG02965.hp1 HG06807.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0046 a0001c0002t0002 a0001c0001t0006 a0001c0001t0046 a0001c0002t0002	a0001c0001t0006g0027 a0001c0001t0046g0145 a0001c0002t0002g0249 a0001c0001t0006g0027 a0001c0001t0046g0145 a0001c0002t0002g0249	4	392	0.0102	188	c.27 others(199): Show c.2780_*2781insCATAGAGTCTAAGACACAAAACACTCAGCACAGT GCTTGGCACACGGCATAGAGTCTAAGACACAAAACACTCAGCACAGTGCT TGGCACATGGCATAGAGTCTAAGACACAAAACACTCAGCACAGTGCTTGG CACATGGCATAGAGTCTAAGACACAAAACACTCAGCACAGTGCTTGGCAC ACGG	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		1148		chr3	TogoVar
MLPH_chr2_237482251_237560322	237544043	G G	GGGGGGAC others(181): Show GGGGGGACAGTGGTGAGTGGAGGGACAGTGGTGAGTGGGGGGACAGTGGT GAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGT GAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGA GTGGAGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0071	1	279	0.0036	188	c.153 others(207): Show c.1539+1387_1539+1388insGGACAGTGGTGAGTGGAGGGACAGTG GTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAG TGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTG GTGAGTGGGGACAGTGGTGAGTGGAGGGACAGTGGTGAGTGGGGACAGTG GTGAGTGGAGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MMP17_chr12_131823393_131856771	131832139	A A	AGGGGGAA others(181): Show AGGGGGAAGGCTGGAGAGGATCTGGGGGGGAGATGGGAAGGGGGAAGGCT GGAGAGGATCTGGGGGAGGGGACCGGAAGGGGGAAGGGCTGGAGAGGATC TGGGGGGTGACGGGAAGGGGGAAGGCTGGAGAGGATGGGGAGGGACCGGA AGGGGGAAGGCTGGAGAGGATCTGCGGGGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0002 a0001c0026t0002	a0001c0026t0002g0327 a0001c0026t0002g0327	1	396	0.0025	188	c.159 others(205): Show c.159+3516_159+3517insGATGGGAAGGGGGAAGGCTGGAGAGGAT CTGGGGGAGGGGACCGGAAGGGGGAAGGGCTGGAGAGGATCTGGGGGGTG ACGGGAAGGGGGAAGGCTGGAGAGGATGGGGAGGGACCGGAAGGGGGAAG GCTGGAGAGGATCTGCGGGGGGAAGGGAAGGGGGGAAGGCTGGAGAGGAT CTGGGGGGGA	MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
MTMR12_chr5_32222007_32317939	32228595	T T	TATATATA others(181): Show TATATATATCATATATATGTGATATATATATATCATATATATGTGATATA TATGTATCATATATATGTGATATATATATATCATATATATGTGATATATA TATATCATATATATGTGATATATATATATCATATATATGTGATATATATA TATCATATATATGTGATATATATATATCATATATATGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp1 HG02559.hp2 HG03540.hp1 HG01884.hp1 HG02559.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0013 a0001c0001t0008g0014 a0001c0001t0008g0036 a0001c0001t0008g0013 a0001c0001t0008g0014 a0001c0001t0008g0036	3	359	0.0084	188	c.11 others(199): Show c.1182_*1183insCACATATATATGATATATATATATCACATATATA TGATATATATATATCACATATATATGATATATATATATCACATATATATG ATATATATATATCACATATATATGATATATATATATCACATATATATGAT ACATATATATCACATATATATGATATATATATATCACATATATATGATAT ATAT	MTMR12	ENSG00000150712.11	transcript	ENST00000382142.8	protein_coding	16/16	1182		chr5	TogoVar
MYCBP2_chr13_77039657_77332094	77174910	T T	TAATATAT others(181): Show TAATATATATTATATATATAATATATAATATATAATATATATTATATATA TAATATATAATATATATAATATATATTATATATATAATATATAATATATA ATATATATTATTATATATAATATATATTATATATATAATATATATTATAT ATAATATATATTATATATATAATATATATTTTAAATATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0330 a0001c0006t0001g0331 a0001c0006t0001g0330 a0001c0006t0001g0331	2	51	0.0392	188	c.547 others(205): Show c.5473-422_5473-421insTATATTTAAAATATATATTATATATATA ATATATATTATATATAATATATATTATATATATAATATATATTATATATA ATAATATATATTATATATTATATATTATATATATAATATATATTATATAT ATTATATATTATATATATAATATATATTATATATTATATATTATATATAT AATATATATT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	36/82			chr13	TogoVar
NEU4_chr2_241804193_241822413	241807650	T T	TCCCTCCC others(181): Show TCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTC AACCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAC CTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCC ACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	299	0.0033	188	c.-16 others(199): Show c.-1628_-1627insCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAG GGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAG GCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1542		chr2	TogoVar
NFILZ_chr19_8625633_8686151	8661108	T T	TTCCTTCC others(181): Show TTCCTTCCTTCCCTCCCTTCCTTCCCCCTCCCTCCCTTCCTTCCCCCTCC CTCCCTTCCTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCCCTCCCTC CCTTCCTTCCCCCTCCCTCCCTTCCTTCCCCCTCCCTCCCTTCCTCCTTC CTTCCTTCCTCCTTCCTTCCTTCCTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0139 a0001c0001t0139	a0001c0001t0139g0314 a0001c0001t0139g0314	1	305	0.0033	188	c.-16 others(209): Show c.-163-13432_-163-13431insCTCCCTTCCTTCCCCCTCCCTCCC TTCCTTCCCCCTCCCTCCCTTCCTCCTTCCTTCCTTCCTTCCCTCCCTTC CTTCCCCCTCCCTCCCTTCCTTCCCCCTCCCTCCCTTCCTTCCCCCTCCC TCCCTTCCTCCTTCCTTCCTTCCTCCTTCCTTCCTTCCTCCTTCCTTCCT TCCTCCTTCCTTCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP12_chr19_53788741_53829314	53819624	T T	TATATGCG others(181): Show TATATGCGTATATATGTATGTATACGTATATATATGCGTATATATGTATG TATACGTATATATACACACACGTATATATATGTATGTATACGTATATATA TATACACACACGTATATATATGTATGTATACGTATATATATATACACACA CGTATATATATGTATGTATACGTATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(94): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01175.hp1 HG01255.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02293.hp1 HG02523.hp2 HG02559.hp2 HG02683.hp1 HG03041.hp2 HG03239.hp1 HG03491.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03942.hp1 HG04115.hp1 HG04228.hp1 NA18747.hp2 NA18939.hp1 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18957.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19064.hp1 NA19066.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19088.hp1 NA19090.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0005 a0020 a0001 a0005 a0020	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0015 a0001c0039 a0005c0011 a0020c0029	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(9): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0002t0001 a0001c0003t0001 a0001c0003t0006 a0001c0015t0001 a0001c0015t0013 a0001c0039t0001 a0005c0011t0001 a0020c0029t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0222 others(92): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 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 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0372 a0001c0001t0001g0375 a0001c0001t0001g0379 a0001c0001t0001g0382 a0001c0001t0001g0383 a0001c0001t0006g0259 a0001c0001t0006g0277 a0001c0001t0006g0381 a0001c0001t0009g0297 a0001c0001t0010g0014 a0001c0002t0001g0223 a0001c0002t0001g0229 a0001c0002t0001g0248 a0001c0002t0001g0253 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0296 a0001c0002t0001g0301 a0001c0002t0001g0314 a0001c0003t0001g0291 a0001c0003t0001g0293 a0001c0003t0001g0315 a0001c0003t0001g0380 a0001c0003t0006g0284 a0001c0003t0006g0299 a0001c0015t0001g0244 a0001c0015t0013g0265 a0001c0039t0001g0401 a0005c0011t0001g0264 a0020c0029t0001g0283	97	367	0.2643	188	c.289 others(205): Show c.289+4261_289+4262insGTGTGTATATATATATACGTATACATAC ATATATATACGTGTGTGTATATATATATACGTATACATACATATATATAC GTGTGTGTATATATATATACGTATACATACATATATATACGTGTGTGTAT ATATACGTATACATACATATATACGCATATATATACGTATACATACATAT ATACGCATAT	NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	1/9			chr19	TogoVar
NLRP12_chr19_53788741_53829314	53819629	G G	GTATATAT others(181): Show GTATATATGTATGTATACGTATATATATGCGTATATATGTATGTATACGT ATATATACACACACGTATATATATGTATGTATACGTATATATATATACAC ACACGTATATATATGTATGTATACGTATATATATATACACACACGTATAT ATATATGTATGTATACGTATATATATATACACACACGTA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02071.hp2 HG04184.hp1 others(2): Show HG00423.hp1 HG02071.hp2 HG04184.hp1 NA18944.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0364 a0001c0001t0001g0365 others(1): Show a0001c0001t0001g0013 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0384	5	237	0.0211	188	c.289 others(205): Show c.289+4256_289+4257insTACGTGTGTGTATATATATATACGTATA CATACATATATATATACGTGTGTGTATATATATATACGTATACATACATA TATATACGTGTGTGTATATATATATACGTATACATACATATATATACGTG TGTGTATATATACGTATACATACATATATACGCATATATATACGTATACA TACATATATA	NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	1/9			chr19	TogoVar
NLRP13_chr19_55890945_55937336	55930882	A A	ATATATAT others(181): Show ATATATATATATATATATATATATATATACACACACACGTATATATATAC ATATATATATACATACACATATATATATACATATATATACATACACATAT ATATACATATATATACATACACATATATATACATATATATACATACACAT ATATATATACATACACATATATATATACATATATATGTG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18952.hp1 NA18979.hp2 NA18945.hp1 NA18952.hp1 NA18979.hp2	a0002 a0002	a0002c0005 a0002c0007 a0002c0005 a0002c0007	a0002c0005t0001 a0002c0007t0001 a0002c0005t0001 a0002c0007t0001	a0002c0005t0001g0088 a0002c0005t0001g0089 a0002c0007t0001g0087 a0002c0005t0001g0088 a0002c0005t0001g0089 a0002c0007t0001g0087	3	370	0.0081	188	c.319 others(205): Show c.319+1110_319+1111insCACATATATATGTATATATATATGTGTA TGTATATATATATGTGTATGTATATATATGTATATATATGTGTATGTATA TATATGTATATATATGTGTATGTATATATATGTATATATATATGTGTATG TATATATATATGTATATATATACGTGTGTGTGTATATATATATATATATA TATATATATA	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP5_chr19_55994726_56066810	55998672	G G	GTGTGTGT others(181): Show GTGTGTGTGTGTGTGTATATATATATATATGTGTGTATATATATATATAT ATGTGTGTATATATATATATATGTGTGTGTATATATATATGTGTGTATAT ATATATATGTGTGTATATATATATATGTGTGTATATATATATATGTGTGT ATATATATATGTGTGTATATATATATATGTGTGTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0014 a0014	a0014c0128 a0014c0128	a0014c0128t0001 a0014c0128t0001	a0014c0128t0001g0102 a0014c0128t0001g0102	1	358	0.0028	188	c.-10 others(199): Show c.-1054_-1053insTGTGTGTGTGTGTGTATATATATATATATGTGTG TATATATATATATATATGTGTGTATATATATATATATGTGTGTGTATATA TATATGTGTGTATATATATATATGTGTGTATATATATATATGTGTGTATA TATATATATGTGTGTATATATATATGTGTGTATATATATATATGTGTGTA TATA	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding		1053		chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993491	C C	CCCCTCCC others(181): Show CCCCTCCCTCCCCCTCCCCCCTCCTCCCCCCTCCCTCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0007 a0006c0020t0007	a0006c0020t0007g0268 a0006c0020t0007g0268	1	332	0.0030	188	c.55 others(199): Show c.5578_*5579insCCCTCCCTCCCCCTCCCCCCTCCTCCCCCCTCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTC CCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4863		chr19	TogoVar
NTS_chr12_85869295_85887992	85879216	A A	ATTTTATG others(181): Show ATTTTATGTATATTTTATGTACGTAAAATATATTTTATGTATATTTTATG TACGTAAAATATATTTTATGTATATTTTATGTACGTAAAATATATTTTAT GTATATTTTATGTACGTAAAATATATTTTATGTATATTTTATGTACGTAA AATATATTTTTATATATATTTTATGTACGTAAAATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03669.hp2 HG00738.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	2	109	0.0183	188	c.360 others(203): Show c.360+649_360+650insTTATGTATATTTTATGTACGTAAAATATAT TTTATGTATATTTTATGTACGTAAAATATATTTTATGTATATTTTATGTA CGTAAAATATATTTTATGTATATTTTATGTACGTAAAATATATTTTATGT ATATTTTATGTACGTAAAATATATTTTTATATATATTTTATGTACGTAAA ATATATTT	NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
NUP205_chr7_135552917_135653753	135570819	T T	TTTATATA others(181): Show TTTATATATTATATTAATATATATTAATTATATTTATATATTATATTAAT ATATATTAATTATATTTATATATTATATTAATATATATTAATTATATTTA TATATTATATTAATATATATTAATATAATATATTATATTAATATATATTA ATTATATAATATATATTATATTAATATATATTAATTATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02083.hp1 HG03239.hp1 others(10): Show HG00597.hp1 HG02083.hp1 HG03239.hp1 HG03704.hp1 HG04115.hp1 NA18939.hp1 NA18973.hp1 NA18978.hp1 NA19000.hp1 NA19054.hp1 NA19080.hp2 NA19085.hp2 NA19086.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0003 a0002c0005t0001 a0002c0005t0003	a0002c0005t0001g0018 a0002c0005t0001g0019 a0002c0005t0001g0025 others(10): Show a0002c0005t0001g0018 a0002c0005t0001g0019 a0002c0005t0001g0025 a0002c0005t0001g0157 a0002c0005t0003g0151 a0002c0005t0003g0152 a0002c0005t0003g0153 a0002c0005t0003g0154 a0002c0005t0003g0155 a0002c0005t0003g0156 a0002c0005t0003g0158 a0002c0005t0003g0159 a0002c0005t0003g0168	13	350	0.0371	188	c.29- others(201): Show c.29-285_29-284insTATATATTATATTAATATATATTAATTATATT TATATATTATATTAATATATATTAATTATATTTATATATTATATTAATAT ATATTAATTATATTTATATATTATATTAATATATATTAATATAATATATT ATATTAATATATATTAATTATATAATATATATTATATTAATATATATTAA TTATAT	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP93_chr16_56725129_56855286	56808448	A A	ATATAAAA others(181): Show ATATAAAATATAGTTATATAACTATATAAAATATATAGTTATATAACTAT ATAAAATATAGTTATATAACTATATAAAATATATAGTTATATAACTATAT AAAATATAGTTATATAACTATATAAAATATATAGTTATGTAACTATAAAA TATATAGTTATGTAACTATAAAATATATAGTTATGTAAC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	272	0.0037	188	c.489 others(205): Show c.489+2827_489+2828insGTTATATAACTATATAAAATATATAGTT ATATAACTATATAAAATATAGTTATATAACTATATAAAATATATAGTTAT ATAACTATATAAAATATAGTTATATAACTATATAAAATATATAGTTATGT AACTATAAAATATATAGTTATGTAACTATAAAATATATAGTTATGTAACT ATAAAATATA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUTM2F_chr9_94313198_94333644	94313275	A A	AATATTAT others(181): Show AATATTATATATATATTATATATATGATATAATATATATATAGTATATAT TATATAATATATATAATATATATAATATATATTATATAATATATATATAT TATATATTATATAATTATATAATATATAATATAATATAAAATATAATATA TTATATAAAATATAATATATTATATTATATATAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01496.hp1 HG01928.hp1 others(1): Show HG01346.hp1 HG01496.hp1 HG01928.hp1 HG02293.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0032 a0007c0006t0001g0074 a0007c0006t0001g0080 a0007c0006t0001g0032 a0007c0006t0001g0074 a0007c0006t0001g0080	4	190	0.0211	188	c.51 others(199): Show c.5189_*5190insATATATTATATATAATATAATATATTATATTTTA TATAATATATTATATTTTATATTATATTATATATTATATAATTATATAAT ATATAATATATATATATTATATAATATATATTATATATATTATATATATT ATATAATATATACTATATATATATTATATCATATATATAATATATATATA ATAT	NUTM2F	ENSG00000130950.15	transcript	ENST00000253262.9	protein_coding		4922		chr9	TogoVar
NXN_chr17_794310_984776	948826	G G	GGCCTCCT others(181): Show GGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCC CTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	222	0.0045	188	c.360 others(207): Show c.360+30492_360+30493insAGGGGGGAGAGGAGGAGGCAGGGGGA GAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCA GGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGG AGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	948901	T T	TGCCTCCT others(181): Show TGCCTCCTCCTCTCCCCCGGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCT CCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTC CTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCC TGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0011 a0001c0001t0024g0011	1	191	0.0052	188	c.360 others(207): Show c.360+30417_360+30418insCGGGGGGAGAGGAGGAGGCCGCGGGG AGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCC GCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGA GGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCCGGGGG AGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	948909	C C	CCTCTCCC others(181): Show CCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTG CCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCC CCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCT CCTCTCCCCGCGGCCTCCTCCTCTCCCCCCGGCCTCCTA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	240	0.0042	188	c.360 others(207): Show c.360+30409_360+30410insTAGGAGGCCGGGGGGAGAGGAGGAGG CCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAG GAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGG GGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGG CAGGGGGGAGAG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949297	G G	GCGGCCTC others(181): Show GCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCTGCCTCCTCC TCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCC TCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCC CCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCC	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	113	0.0088	188	c.360 others(207): Show c.360+30021_360+30022insGGGGGAGAGGAGGAGGCAGGGGGAGA GGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGG GGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGG AGGCAGGGGGAGAGGAGGAGGCAGCGGGGAGAGGAGGAGGCAGGGGGGAG AGGAGGAGGCCG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949297	G G	GCTGCCTC others(181): Show GCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCT CTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCGGCC TCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCC CCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	113	0.0088	188	c.360 others(207): Show c.360+30021_360+30022insGGGGGAGAGGAGGAGGCCGGGGGGAG AGGAGGAGGCCGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGG GGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGG AGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAG AGGAGGAGGCAG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949489	T T	TGCCTCCT others(181): Show TGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCC CCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCGC	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	158	0.0063	188	c.360 others(207): Show c.360+29829_360+29830insGCGGGGAGAGGAGGAGGCAGGGGGAG AGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCG GGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR2T12_chr1_248285139_248308424	248306763	G G	GCCTGAGG others(181): Show GCCTGAGGACTGGAGCCGCCTGAGGACTGGATACCCCTGAGGACTGGAGC CCCCTGAGGACTGGAGCCGCCTGAGGACTGGAGCCGCCTGAGGACTGGAT ACCCCTGAGGACTGGAGCCCCCTGAGGACTGGAACCCCCTGAGGACTGGA GCCCCCTGAGGACAGGAGCCGCCCTGAGGACTAGAGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02280.hp1 HG02630.hp1 others(2): Show HG02109.hp2 HG02280.hp1 HG02630.hp1 HG03041.hp2 HG03453.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0006 a0005c0004t0006	a0005c0004t0006g0013 a0005c0004t0006g0034 a0005c0004t0006g0013 a0005c0004t0006g0034	5	363	0.0138	188	c.-36 others(199): Show c.-3608_-3607insGGGCTCTAGTCCTCAGGGCGGCTCCTGTCCTCAG GGGGCTCCAGTCCTCAGGGGGTTCCAGTCCTCAGGGGGCTCCAGTCCTCA GGGGTATCCAGTCCTCAGGCGGCTCCAGTCCTCAGGCGGCTCCAGTCCTC AGGGGGCTCCAGTCCTCAGGGGTATCCAGTCCTCAGGCGGCTCCAGTCCT CAGG	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3340		chr1	TogoVar
OR4K1_chr14_19925917_19941757	19937355	T T	TATAATAT others(181): Show TATAATATGTATAATATATATAATATATATATAATATATATTATATATTA TATATATTATATATATTATATATTATATATATTATATATATAATATATAT AATATATATAATATATAATATATATAATATATATAATATATATATTATAT ATATATTATATATATAATATATATATAATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	30	0.0333	188	c.75 others(197): Show c.753_*754insATAATATGTATAATATATATAATATATATATAATAT ATATTATATATTATATATATTATATATATTATATATTATATATATTATAT ATATAATATATATAATATATATAATATATAATATATATAATATATATAAT ATATATATTATATATATATTATATATATAATATATATATAATATATATAT AC	OR4K1	ENSG00000155249.5	transcript	ENST00000641172.1	protein_coding		599		chr14	TogoVar
OR4K1_chr14_19925917_19941757	19937355	T T	TATAATAT others(181): Show TATAATATGTATAATATATATAATATATATATAATATATATTATATATTA TATATATTATATATATTATATATTATATATATTATATATATAATATATAT AATATATATTATATATTATATATATAATATATATAATATATATATTATAT ATATATTATATATATAATATATATATAATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0014 a0005c0005t0001g0014	1	30	0.0333	188	c.75 others(197): Show c.753_*754insATAATATGTATAATATATATAATATATATATAATAT ATATTATATATTATATATATTATATATATTATATATTATATATATTATAT ATATAATATATATAATATATATTATATATTATATATATAATATATATAAT ATATATATTATATATATATTATATATATAATATATATATAATATATATAT AC	OR4K1	ENSG00000155249.5	transcript	ENST00000641172.1	protein_coding		599		chr14	TogoVar
OSCAR_chr19_54089668_54105803	54096369	T T	TCTCTCTC others(181): Show TCTCTCTCTGCCTCCCTCTCTCTCTGCCTCCCTCTCTCTCTGCCTCCCTC TCTCTCTGCCTGCCTCTCTCTCTGCCTGCCTCTCTCTCTGCCTCCCTCTC TCTGCCTCCCTCTCTCTCTGCCTCCCTCTCTCTCTGCCTCCCTCTCTCTC TGCCTGCCTCTCTCTCTGCCTGCCTCTCTCTCTGCCTCC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	442	0.0023	188	c.374 others(203): Show c.374-217_374-216insGGAGGCAGAGAGAGAGGCAGGCAGAGAGAG AGGCAGGCAGAGAGAGAGGGAGGCAGAGAGAGAGGGAGGCAGAGAGAGAG GGAGGCAGAGAGAGGGAGGCAGAGAGAGAGGCAGGCAGAGAGAGAGGCAG GCAGAGAGAGAGGGAGGCAGAGAGAGAGGGAGGCAGAGAGAGAGGGAGGC AGAGAGAG	OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding	3/4			chr19	TogoVar
P2RY8_chrX_1457581_1542185	1468904	T T	TCCCCTCT others(181): Show TCCCCTCTCCCCTCTCCCCTCCCTCTCCTCTCCCCTCTCCCCTCCCCTTC CCTCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCC TCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTC TCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	79	0.0127	188	c.-24 others(205): Show c.-24-2323_-24-2322insGGAGGGGAGAGGGGAGAGGGAAGGGGAG GGGAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGG GAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGGGA GAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGAGAGGGAGGGGAGAG GGGAGAGGGG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P2RY8_chrX_1457581_1542185	1468904	T T	TCCCCTCT others(181): Show TCCCCTCTCCCCTCTCCCCTCTCTCCTCTCCCCTCTCCCCCTCCCCTTCC CTCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCT CTCCCCTCTCCCCTCCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTC TCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0004 a0001c0001t0029g0004	1	79	0.0127	188	c.-24 others(205): Show c.-24-2323_-24-2322insGGAGGGGAGAGGGGAGAGGGAAGGGGAG GGGAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGGAGG GGAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGGG AGAGGGGAGAGGGAAGGGGAGGGGGAGAGGGGAGAGGAGAGAGGGGAGAG GGGAGAGGGG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PACS2_chr14_105309748_105403147	105349823	A A	AAGAACTT others(181): Show AAGAACTTCCAGGAGTGCGTGGCTAATGCAGGACCCGGAGAACTTCCAGG AGAGCGTGGCTAATAGCAGGACCCCGAGAACTTCCAGGAGAGCGTGGCTA ATGCAGGACCCCGAGAACTTCCAGGAGAGCGTGGCTAATAGCAGGACCCC GAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCCCG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0133 a0001c0001t0008g0133	1	201	0.0050	188	c.207 others(205): Show c.207+1253_207+1440dupAGGAGTGCGTGGCTAATGCAGGACCCGG AGAACTTCCAGGAGAGCGTGGCTAATAGCAGGACCCCGAGAACTTCCAGG AGAGCGTGGCTAATGCAGGACCCCGAGAACTTCCAGGAGAGCGTGGCTAA TAGCAGGACCCCGAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCCC GAGAACTTCC	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
PALD1_chr10_70473767_70573450	70554954	C C	CCCCTCCC others(181): Show CCCCTCCCTCTCCCCTCCTCCCCTCCCCCTCCTCCCCCTCCTCCCCTCCC CCTCCTCCCCCCTCCTCCCCTCTCTCCTCCTCCCCTCCTCCCCTCCTCTC CCCCTCCCCTCCCCTCCTCTCCTCCCCCTCCCCTCCCCTCCACTCCCCTT CCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0118 a0003c0003t0001g0118	1	169	0.0059	188	c.226 others(207): Show c.2262+7511_2262+7512insTCCCTCTCCCCTCCTCCCCTCCCCCT CCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCCTCCCCTCTCTCCTCC TCCCCTCCTCCCCTCCTCTCCCCCTCCCCTCCCCTCCTCTCCTCCCCCTC CCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCC TCCCCTCCTCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PARP10_chr8_143972158_143991460	143981312	G G	GTGGTGAT others(181): Show GTGGTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGGTGG TGACGACAGTGAGTGGTGAAGGTGATGGTGATGGTGGTGACGACAGTGAG TGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGT GATGGTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0265 a0002c0002t0002g0265	1	375	0.0027	188	c.255 others(207): Show c.2556+1619_2556+1620insTCACCTTCACCACTCACTGTCGTCAC CACCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCATCACC ACCACCTTCACCACTCACTGTCGTCACCACCATCACCATCACCTTCACCA CTCACTGTCGTCACCACCATCACCATCACCTTCACCACTCACTGTCGTCA CCACCATCACCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981922	T T	TGACGCCA others(181): Show TGACGCCAGTGCGAGGTGACCGGTGGTGGTGATGCTGGTGGTGACGCCAG TGCGTGGTGAAGGTGACTGGTGCATGCAGGTGGAGCCGCCGAGAGTGGTG CGTGAAGGTGGTGGCTGATGATGGTGGTGACGCCAGTGAGTTGTGAAGGT GGTGGTGATGATGGCTGGTGACCGACAGTGAGTGGTGCA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0210 a0002c0002t0002g0210	1	378	0.0026	188	c.255 others(207): Show c.2556+1009_2556+1010insTGCACCACTCACTGTCGGTCACCAGC CATCATCACCACCACCTTCACAACTCACTGGCGTCACCACCATCATCAGC CACCACCTTCACGCACCACTCTCGGCGGCTCCACCTGCATGCACCAGTCA CCTTCACCACGCACTGGCGTCACCACCAGCATCACCACCACCGGTCACCT CGCACTGGCGTC	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP9_chr3_122522924_122569300	122539507	A A	ATTTCTTT others(181): Show ATTTCTTTCTTTCTTTCTTTCTTTCTCTTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0054 a0002c0001t0001g0054	1	71	0.0141	188	c.176 others(205): Show c.1765+964_1765+965insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAGAAAGAAAGAAAGA AAGAAAGAAA	PARP9	ENSG00000138496.17	transcript	ENST00000682323.1	protein_coding	8/10			chr3	TogoVar
PASD1_chrX_151558675_151681739	151562916	C C	CGGGGGGT others(181): Show CGGGGGGTCGGTGGTCCGGGCGGGGGCGGGGGGGCAGCTGGGGCGGGGGG CGGGGGGGGGGCGGGGGGGGGCGGGGGGGCGGGGGGGGGCGGGGGGGGGC GGGGGGGCGGGGGGGGGGCGGGGGGGGGCGGGGGGGCGGGGGGGCGGGGG GCGGGGGGGCGGGGGGGGGCGGGGGGGGGCGGGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	137	0.0073	188	c.-95 others(197): Show c.-951_-950insGGGGGGTCGGTGGTCCGGGCGGGGGCGGGGGGGCAG CTGGGGCGGGGGGCGGGGGGGGGGCGGGGGGGGGCGGGGGGGCGGGGGGG GGCGGGGGGGGGCGGGGGGGCGGGGGGGGGGCGGGGGGGGGCGGGGGGGC GGGGGGGCGGGGGGCGGGGGGGCGGGGGGGGGCGGGGGGGGGCGGGGGGG CG	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		758		chrX	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(181): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG02083.hp2 HG00609.hp1 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	2	183	0.0109	188	c.-26 others(199): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar

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