Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FARS2_chr6_5256513_5776583	5539384	G G	GTGTGTAT others(97): Show GTGTGTATGTGTATATATATATATATATATATATATATATATATATATAT ATATGTATATGTATATATATATATATATATATGTATATATATATATATAT ATATA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	59	0.0169	104	c.905 others(121): Show c.905-5795_905-5794insGTGTATGTGTATATATATATATATATAT ATATATATATATATATATATATATGTATATGTATATATATATATATATAT ATGTATATATATATATATATATATAT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5539384	G G	GTGTGTAT others(97): Show GTGTGTATGTGTGTATATATATATATATATATATATATATATATATATAT ATATGTATATGTATATATATATATATATATGTATATATATATATATATAT GTATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0005 a0001c0003t0001g0005	1	59	0.0169	104	c.905 others(121): Show c.905-5795_905-5794insGTGTATGTGTGTATATATATATATATAT ATATATATATATATATATATATATGTATATGTATATATATATATATATAT GTATATATATATATATATATGTATAT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FASTKD1_chr2_169523508_169578865	169561944	A A	AAATTATT others(97): Show AAATTATTTATTAATTTATTGTAAATTAATTATTTATTAATTTATTGTAA ATTAATTATTTATTAATTTATTGTAAATTAATTATTTATTAATTTATTGT AAATT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03139.hp1 NA18984.hp1 HG02258.hp2 HG03139.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0188 a0001c0007t0001g0303 a0001c0007t0001g0304 a0001c0001t0001g0188 a0001c0007t0001g0303 a0001c0007t0001g0304	3	256	0.0117	104	c.573 others(121): Show c.573-1160_573-1159insAATTTACAATAAATTAATAAATAATTAA TTTACAATAAATTAATAAATAATTAATTTACAATAAATTAATAAATAATT AATTTACAATAAATTAATAAATAATT	FASTKD1	ENSG00000138399.18	transcript	ENST00000453153.7	protein_coding	4/14			chr2	TogoVar
FBLN1_chr22_45497883_45606135	45568781	C C	CCTTCTGT others(97): Show CCTTCTGTAGGGGAGTGCTCCTTCTGTAGGGGAATGCCTCTTCTGTAGGG GAATGCTCCTTCTGTAGGGCATGCTCCTTCTGTAGGAGAATGCTCCTGTA GGGGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG01069.hp1 others(39): Show HG00408.hp2 HG00423.hp1 HG01069.hp1 HG01109.hp1 HG01257.hp2 HG01516.hp1 HG02129.hp2 HG02165.hp1 HG02602.hp1 HG02698.hp1 HG02735.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp2 HG03490.hp2 HG03492.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG04204.hp2 HG04228.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18967.hp1 NA18975.hp1 NA18983.hp1 NA18995.hp2 NA19003.hp2 NA19004.hp2 NA19062.hp1 NA19062.hp2 NA19074.hp1 NA19086.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0001c0002 a0001c0009 others(3): Show a0001c0001 a0001c0002 a0001c0009 a0001c0018 a0006c0011 a0008c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0009t0004 a0001c0018t0002 a0006c0011t0002 a0008c0019t0007	a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(39): Show a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0100 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0138 a0001c0001t0001g0159 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0261 a0001c0001t0001g0291 a0001c0001t0001g0297 a0001c0001t0001g0322 a0001c0001t0002g0094 a0001c0001t0003g0230 a0001c0001t0004g0306 a0001c0001t0004g0345 a0001c0001t0005g0034 a0001c0001t0005g0097 a0001c0001t0007g0103 a0001c0001t0010g0206 a0001c0002t0001g0092 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0311 a0001c0002t0002g0274 a0001c0002t0005g0032 a0001c0002t0005g0043 a0001c0009t0004g0180 a0001c0018t0002g0095 a0006c0011t0002g0237 a0008c0019t0007g0111	42	339	0.1239	104	c.169 others(123): Show c.1698-5728_1698-5727insTCTGTAGGGGAGTGCTCCTTCTGTAG GGGAATGCCTCTTCTGTAGGGGAATGCTCCTTCTGTAGGGCATGCTCCTT CTGTAGGAGAATGCTCCTGTAGGGGACT	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
FBXL16_chr16_687500_710801	696678	T T	TCCCACCC others(97): Show TCCCACCCAAAGCCACCATCCGCTCCCACCTCCATAGGGTTGCTGCTGCC CGCCCCTGCCCCCCAGCCCTGTCCCCCCCACCACCCAGCCTGGGCGCACA CCCCC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0147 a0001c0002t0001g0147	1	3	0.3333	104	c.633 others(117): Show c.633+94_633+95insGGGGGTGTGCGCCCAGGCTGGGTGGTGGGGGG GACAGGGCTGGGGGGCAGGGGCGGGCAGCAGCAACCCTATGGAGGTGGGA GCGGATGGTGGCTTTGGGTGGG	FBXL16	ENSG00000127585.13	transcript	ENST00000397621.6	protein_coding	2/5			chr16	TogoVar
FBXO11_chr2_47801920_47911498	47900708	A A	ACACGTAC others(97): Show ACACGTACGTATATACACACGCATACACGTACGTATATACACACGCATAC ACGTACGTATATACACACGCATACACGTACGTATATACACACGCATACAC GTACG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0302 a0001c0001t0003g0302	1	310	0.0032	104	c.232 others(121): Show c.232+4780_232+4781insCGTACGTGTATGCGTGTGTATATACGTA CGTGTATGCGTGTGTATATACGTACGTGTATGCGTGTGTATATACGTACG TGTATGCGTGTGTATATACGTACGTG	FBXO11	ENSG00000138081.22	transcript	ENST00000403359.8	protein_coding	1/22			chr2	TogoVar
FHIT_chr3_59742277_61256452	59986789	T T	TATATAAA others(97): Show TATATAAATATATAAATATATTTATATAAATATAAATATATTTATATAAA TATATAAATATAAATATATTTATATAATATATTTATATAAATATATAAAT ATATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02723.hp2 HG01167.hp2 HG01169.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0003g0026 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0003g0026	3	18	0.1667	104	c.279 others(123): Show c.279+24581_279+24582insTATATATTTATATATTTATATAAATA TATTATATAAATATATTTATATTTATATATTTATATAAATATATTTATAT TTATATAAATATATTTATATATTTATAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	7/9			chr3	TogoVar
FHIT_chr3_59742277_61256452	60860431	T T	TCATATGT others(97): Show TCATATGTATACATGACATACATCATATGTATACATGACATACATCATAT GTATACATGACATACATCATATGTATACATGACATACATCATATGTATAT ATGAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0023	1	39	0.0256	104	c.-11 others(125): Show c.-110-38421_-110-38420insGTCATATATACATATGATGTATGT CATGTATACATATGATGTATGTCATGTATACATATGATGTATGTCATGTA TACATATGATGTATGTCATGTATACATATG	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FIGNL2_chr12_51812899_51853718	51834032	G G	GATGGATG others(97): Show GATGGATGGATGAATGGACAGATGGACAGATGGACAGATGGATGAATAGA CAGACGGATGGGTGGATGGATGAATGGACAGACAAATGGACGGATGGATG GATGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	405	0.0025	104	c.-11 others(123): Show c.-11-11609_-11-11608insTCATCCATCCATCCGTCCATTTGTCT GTCCATTCATCCATCCACCCATCCGTCTGTCTATTCATCCATCTGTCCAT CTGTCCATCTGTCCATTCATCCATCCAT	FIGNL2	ENSG00000261308.4	transcript	ENST00000618634.3	protein_coding	1/1			chr12	TogoVar
FKBP2_chr11_64236095_64249132	64237127	G G	GAGAGAGA others(97): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGATATATATATATATATATATATATATATATATATATATATATA TATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	279	0.0036	104	c.-40 others(115): Show c.-4010_-4009insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGATATATATATATATATATATATATATAT ATATATATATATATATATAT	FKBP2	ENSG00000173486.14	transcript	ENST00000309366.9	protein_coding		3967		chr11	TogoVar
FKBP2_chr11_64236095_64249132	64237127	G G	GAGAGAGA others(97): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGATATATATATATATATATATATATATATATATATATATATATATATA TATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	279	0.0036	104	c.-40 others(115): Show c.-4010_-4009insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGATATATATATATATATATATATATATATATAT ATATATATATATATATATAT	FKBP2	ENSG00000173486.14	transcript	ENST00000309366.9	protein_coding		3967		chr11	TogoVar
FLT3_chr13_27998274_28105576	27999036	C C	CATATAAA others(97): Show CATATAAATATATATGTATATACATATATATATGTATATACATATATATA TGTATATACATATAAATATATATGTATATACATATAAATATATATGTATA TACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0234 a0004c0006t0002g0234	1	225	0.0044	104	c.50 others(115): Show c.5015_*5016insATGTATATACATATATATTTATATGTATATACAT ATATATTTATATGTATATACATATATATATGTATATACATATATATATGT ATATACATATATATTTATAT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4237		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999088	T T	TAATTATA others(97): Show TAATTATATACATATAAATATATATAATTATATACATATAAATATATATA TTTATATACATATAAATTTATATACATATAAATATAAATATTTATATACA TATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG03098.hp2 HG02451.hp1 HG03098.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0003 a0001c0004 a0003c0003	a0001c0004t0006 a0003c0003t0006 a0001c0004t0006 a0003c0003t0006	a0001c0004t0006g0144 a0003c0003t0006g0241 a0001c0004t0006g0144 a0003c0003t0006g0241	2	288	0.0069	104	c.49 others(115): Show c.4963_*4964insTTATATGTATATAAATATTTATATTTATATGTAT ATAAATTTATATGTATATAAATATATATATTTATATGTATATAATTATAT ATATTTATATGTATATAATT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4185		chr13	TogoVar
FLT4_chr5_180596506_180654600	180635151	A A	AGTATGGG others(97): Show AGTATGGGTGGATGGGTGGGTGGATGGAAGTATGGGTGGATGGGTGGATG GGTGGGTGGGTGGGTGGATGGATGCATGGATGGATGGAAGTATGGGTGGA TGGGT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0034 a0002c0002t0004g0034	1	146	0.0068	104	c.59- others(119): Show c.59-3374_59-3373insACCCATCCACCCATACTTCCATCCATCCAT GCATCCATCCACCCACCCACCCACCCATCCACCCATCCACCCATACTTCC ATCCACCCACCCATCCACCCATAC	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FMNL1_chr17_45216885_45252318	45217518	C C	CTCCTTCC others(97): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0020 a0003c0005t0001g0020	1	373	0.0027	104	c.-46 others(115): Show c.-4607_-4606insTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCT	FMNL1	ENSG00000184922.15	transcript	ENST00000331495.8	protein_coding		4366		chr17	TogoVar
FMNL1_chr17_45216885_45252318	45217538	T T	TTCCTTCC others(97): Show TTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01257.hp2 HG01258.hp2 others(1): Show HG01256.hp1 HG01257.hp2 HG01258.hp2 NA19010.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0019 a0002c0003t0001g0007 a0002c0003t0001g0019 a0001c0001t0001g0019 a0002c0003t0001g0007 a0002c0003t0001g0019	4	373	0.0107	104	c.-45 others(115): Show c.-4587_-4586insTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCC	FMNL1	ENSG00000184922.15	transcript	ENST00000331495.8	protein_coding		4346		chr17	TogoVar
FMNL1_chr17_45216885_45252318	45217542	T T	TTCCTTCC others(97): Show TTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp2 NA18989.hp1 NA18989.hp2	a0002 a0006 a0002 a0006	a0002c0003 a0006c0008 a0002c0003 a0006c0008	a0002c0003t0001 a0006c0008t0001 a0002c0003t0001 a0006c0008t0001	a0002c0003t0001g0004 a0006c0008t0001g0013 a0002c0003t0001g0004 a0006c0008t0001g0013	2	355	0.0056	104	c.-45 others(115): Show c.-4583_-4582insTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCC	FMNL1	ENSG00000184922.15	transcript	ENST00000331495.8	protein_coding		4342		chr17	TogoVar
FMNL1_chr17_45216885_45252318	45217546	T T	TTCCTTCC others(97): Show TTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG02080.hp1 HG00621.hp1 HG02080.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0004 a0002c0003t0001g0004	2	371	0.0054	104	c.-45 others(115): Show c.-4579_-4578insTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCC	FMNL1	ENSG00000184922.15	transcript	ENST00000331495.8	protein_coding		4338		chr17	TogoVar
FN3KRP_chr17_82711706_82733013	82713336	G G	GGGCCGCC others(97): Show GGGCCGCCGCCATCTGTGCGTGTCACATATCTATGCAGAGACTGCTCCAG ACAGGCCGCCGCCATCTGTGCGTGTCACATATCTATGCAGAGACTGCTGC AGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	424	0.0024	104	c.-34 others(115): Show c.-3420_-3419insGGCCGCCGCCATCTGTGCGTGTCACATATCTATG CAGAGACTGCTCCAGACAGGCCGCCGCCATCTGTGCGTGTCACATATCTA TGCAGAGACTGCTGCAGACA	FN3KRP	ENSG00000141560.15	transcript	ENST00000269373.11	protein_coding		3369		chr17	TogoVar
FOXP1_chr3_70949708_71588728	71397088	A A	ATATATAT others(97): Show ATATATATATACACATATATATATGTGTGTATATATATACACATATATAT ATGTGTGTATATATATATACATATATGTGTGTATATATATATACATATAT GTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0019 a0001c0001t0083g0019	1	69	0.0145	104	c.-16 others(125): Show c.-167-37845_-167-37844insCACACATATATGTATATATATATA CACACATATATGTATATATATATACACACATATATATATGTGTATATATA TACACACATATATATATGTGTATATATATA	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FREM3_chr4_143572302_143705675	143617665	G G	GGGTTTAA others(97): Show GGGTTTAAGCTAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0238 a0007c0008t0001g0238	1	257	0.0039	104	c.577 others(123): Show c.5779+3371_5779+3372insTGCAGTGAGCCGAGATCCCGCCACTG CACTCCAGCCTGGGCGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAACTAGCTTAAACC	FREM3	ENSG00000183090.5	transcript	ENST00000329798.5	protein_coding	5/7			chr4	TogoVar
FRMD3_chr9_83239622_83543401	83479630	A A	AAGAAAGA others(97): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGGAGGGAGGGA GGGAG	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0237 a0001c0002t0029g0237	1	208	0.0048	104	c.147 others(123): Show c.147+58454_147+58455insCTCCCTCCCTCCCTCCCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTCCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCT	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13			chr9	TogoVar
FRMD5_chr15_43865764_44200271	43999923	G G	GTATATAT others(97): Show GTATATATATATATATATATATGCCATGCATATATATATATATATATATG CCATGCATATATATATATATATATGCCATGCATATATATATATATATGCC ATGCA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA19004.hp2 NA19063.hp2 NA18960.hp2 NA19004.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0093 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0093	3	71	0.0423	104	c.103 others(123): Show c.103-75615_103-75614insTGCATGGCATATATATATATATATGC ATGGCATATATATATATATATATGCATGGCATATATATATATATATATAT GCATGGCATATATATATATATATATATA	FRMD5	ENSG00000171877.21	transcript	ENST00000417257.6	protein_coding	1/13			chr15	TogoVar
FRMD5_chr15_43865764_44200271	43999961	T T	TATATATA others(97): Show TATATATATATATGCCATGCATATATATATATATATATGCCATGCATATA TATATATATATATGCCATGCATATATATATATATATATATATATATATGC CATGC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03516.hp1 HG02922.hp2 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0109 a0001c0004t0004g0110 a0001c0004t0004g0109 a0001c0004t0004g0110	2	140	0.0143	104	c.103 others(123): Show c.103-75653_103-75652insGCATGGCATATATATATATATATATA TATATATATGCATGGCATATATATATATATATATGCATGGCATATATATA TATATATATGCATGGCATATATATATAT	FRMD5	ENSG00000171877.21	transcript	ENST00000417257.6	protein_coding	1/13			chr15	TogoVar
FRMD5_chr15_43865764_44200271	43999961	T T	TATATATA others(97): Show TATATATATATGCCATGCATATATATATATATATATATGCCATGCATATA TATATATATATATATGCCATGCATATATATATATATATATATATATATGC CATGC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0118 a0001c0004t0004g0118	1	139	0.0072	104	c.103 others(123): Show c.103-75653_103-75652insGCATGGCATATATATATATATATATA TATATATGCATGGCATATATATATATATATATATGCATGGCATATATATA TATATATATATGCATGGCATATATATAT	FRMD5	ENSG00000171877.21	transcript	ENST00000417257.6	protein_coding	1/13			chr15	TogoVar
FSHR_chr2_48957157_49159515	49127800	T T	TTCTTCTT others(97): Show TTCTTCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CCTCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0146 a0003c0003t0001g0146	1	346	0.0029	104	c.152 others(123): Show c.152+26465_152+26466insGGAGGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGAAGAAGAAGA AGAAGAAGAAGAAGGAAGAAGAAGAAGA	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	1/9			chr2	TogoVar
FSTL5_chr4_161378897_162169000	162153694	T T	TATATATT others(97): Show TATATATTATATATGTATATAATAATATATATATTATATATGTATATAAT AATATGTATATTATATATGTATATAATAATATGTATATTATATATGTATA TAATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0105 a0001c0003t0019g0105	1	117	0.0085	104	c.-17 others(121): Show c.-17+9920_-17+9921insTATTATATACATATATAATATACATATT ATTATATACATATATAATATACATATTATTATATACATATATAATATATA TATTATTATATACATATATAATATAT	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	1/15			chr4	TogoVar
FSTL5_chr4_161378897_162169000	162153694	T T	TATATATT others(97): Show TATATATTATATATGTATATAATAATATGTATATTATATATGTATATAAT AATATGTATATTATATATGTATATAATAATATGTATATTATATATGTATA TAATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0096 a0005c0007t0001g0096	1	117	0.0085	104	c.-17 others(121): Show c.-17+9920_-17+9921insTATTATATACATATATAATATACATATT ATTATATACATATATAATATACATATTATTATATACATATATAATATACA TATTATTATATACATATATAATATAT	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	1/15			chr4	TogoVar
FTHL17_chrX_31066233_31077041	31067493	T T	TATATGCA others(97): Show TATATGCACATACGCGCACACGTGTGTATATGCACATACGCGCACACACG TGTGTATATGCACATACGCGCACACACGTGTGTATATATACATATGTATA TATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0000 a0002c0003t0001g0000	2	297	0.0067	104	c.39 others(115): Show c.3908_*3909insGTATATATACATATGTATATATACACACGTGTGT GCGCGTATGTGCATATACACACGTGTGTGCGCGTATGTGCATATACACAC GTGTGCGCGTATGTGCATAT	FTHL17	ENSG00000132446.7	transcript	ENST00000359202.5	protein_coding		3739		chrX	TogoVar
GABBR2_chr9_98283109_98713935	98393349	A A	ATCCATCC others(97): Show ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAC ACACCCACTCATCCACCCAACCATCCATCCATCCACTCATCCACCAGCCC AACCT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02723.hp2 HG02809.hp2 others(1): Show HG01255.hp2 HG02723.hp2 HG02809.hp2 HG02922.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0025 a0002c0009 a0001c0005 a0001c0025 a0002c0009	a0001c0005t0012 a0001c0025t0009 a0002c0009t0007 a0001c0005t0012 a0001c0025t0009 a0002c0009t0007	a0001c0005t0012g0072 a0001c0005t0012g0122 a0001c0025t0009g0026 others(1): Show a0001c0005t0012g0072 a0001c0005t0012g0122 a0001c0025t0009g0026 a0002c0009t0007g0110	4	153	0.0261	104	c.137 others(121): Show c.1378+825_1378+826insAGGTTGGGCTGGTGGATGAGTGGATGGA TGGATGGTTGGGTGGATGAGTGGGTGTGTGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGA	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	9/18			chr9	TogoVar
GABRG3_chr15_26966181_27546984	27307449	A A	AGGTTTAT others(97): Show AGGTTTATAGGTTTATATATTTATATATAAACATAGGTTTATAGGTTTAT ATATTTATATATAAACAGGTTTATAGGTTTATATATTTATATATAAACAT AGGTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02922.hp2 HG01884.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0023 a0001c0001t0001 a0001c0013t0023	a0001c0001t0001g0005 a0001c0013t0023g0006 a0001c0001t0001g0005 a0001c0013t0023g0006	2	36	0.0556	104	c.271 others(123): Show c.271-19360_271-19359insGGTTTATAGGTTTATATATTTATATA TAAACATAGGTTTATAGGTTTATATATTTATATATAAACAGGTTTATAGG TTTATATATTTATATATAAACATAGGTT	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9			chr15	TogoVar
GALNS_chr16_88808734_88861947	88834396	C C	CCCCGCGT others(97): Show CCCCGCGTGGTCTGGGAAGAGGCGGCAGGGCCCCCGCGTGGTCTGGGAAG AGGCTGCAGGGCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCTCT CCCCA	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0119 a0001c0002t0002g0119	1	257	0.0039	104	c.898 others(119): Show c.898+816_898+817insTGGGGAGAGCCCTACAGCCTCTTCCCAGAC CACGCTGAGGGGGGCCCTGCAGCCTCTTCCCAGACCACGCGGGGGCCCTG CCGCCTCTTCCCAGACCACGCGGG	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	8/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88834396	C C	CCCGCGTG others(97): Show CCCGCGTGGTCTGGGAAGAGGCGGCAGGGCCCCCCGCGTGGTCTGGGAAG AGGCTGCAGGGCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCTCT CCCCA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00544.hp2 others(60): Show HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG01257.hp1 HG01258.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp2 HG02155.hp1 HG02523.hp2 HG02602.hp2 NA18612.hp1 NA18747.hp2 NA18942.hp2 NA18944.hp1 NA18946.hp2 NA18954.hp1 NA18956.hp1 NA18959.hp1 NA18964.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18980.hp2 NA18984.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18998.hp1 NA19003.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19083.hp2 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0014	a0001c0002 a0001c0004 a0002c0026 others(2): Show a0001c0002 a0001c0004 a0002c0026 a0008c0025 a0014c0027	a0001c0002t0002 a0001c0004t0001 a0002c0026t0001 others(2): Show a0001c0002t0002 a0001c0004t0001 a0002c0026t0001 a0008c0025t0003 a0014c0027t0002	a0001c0002t0002g0005 a0001c0002t0002g0035 a0001c0002t0002g0036 others(59): Show a0001c0002t0002g0005 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0040 a0001c0002t0002g0048 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0061 a0001c0002t0002g0073 a0001c0002t0002g0078 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0121 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0133 a0001c0002t0002g0136 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0154 a0001c0002t0002g0159 a0001c0002t0002g0174 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0002g0208 a0001c0002t0002g0210 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0252 a0001c0002t0002g0291 a0001c0002t0002g0352 a0001c0002t0002g0374 a0001c0004t0001g0038 a0001c0004t0001g0065 a0002c0026t0001g0039 a0008c0025t0003g0075 a0014c0027t0002g0120	63	319	0.1975	104	c.898 others(119): Show c.898+816_898+817insTGGGGAGAGCCCTACAGCCTCTTCCCAGAC CACGCTGAGGGGGGCCCTGCAGCCTCTTCCCAGACCACGCGGGGGGCCCT GCCGCCTCTTCCCAGACCACGCGG	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	8/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88834396	C C	CCCGCGTG others(97): Show CCCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCGCGTGGTCTGGGAAG AGGCTGCAGGGCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCTCT CCCCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00423.hp2 others(68): Show HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00558.hp2 HG00621.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01074.hp1 HG01106.hp2 HG01109.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01975.hp2 HG01981.hp1 HG02071.hp1 HG02132.hp2 HG02148.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02559.hp1 HG02735.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03710.hp2 HG03831.hp2 HG04204.hp2 NA18747.hp1 NA18947.hp2 NA18964.hp2 NA18966.hp1 NA18993.hp2 NA19004.hp1 NA19010.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19060.hp2 NA19064.hp1 NA19077.hp1 NA19087.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0006 a0007 others(2): Show a0001 a0006 a0007 a0009 a0010	a0001c0002 a0001c0004 a0001c0018 others(5): Show a0001c0002 a0001c0004 a0001c0018 a0001c0024 a0006c0008 a0007c0009 a0009c0015 a0010c0028	a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 others(10): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0004t0001 a0001c0004t0009 a0001c0018t0002 a0001c0024t0002 a0006c0008t0001 a0006c0008t0003 a0007c0009t0003 a0009c0015t0011 a0009c0015t0013 a0010c0028t0002	a0001c0002t0001g0055 a0001c0002t0001g0099 a0001c0002t0001g0106 others(68): Show a0001c0002t0001g0055 a0001c0002t0001g0099 a0001c0002t0001g0106 a0001c0002t0001g0199 a0001c0002t0002g0011 a0001c0002t0002g0017 a0001c0002t0002g0041 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0088 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0097 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0122 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0130 a0001c0002t0002g0132 a0001c0002t0002g0146 a0001c0002t0002g0158 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0202 a0001c0002t0002g0207 a0001c0002t0002g0209 a0001c0002t0002g0366 a0001c0002t0002g0367 a0001c0002t0008g0123 a0001c0004t0001g0031 a0001c0004t0001g0032 a0001c0004t0001g0043 a0001c0004t0001g0044 a0001c0004t0001g0045 a0001c0004t0001g0046 a0001c0004t0001g0047 a0001c0004t0001g0049 a0001c0004t0001g0056 a0001c0004t0001g0173 a0001c0004t0001g0242 a0001c0004t0009g0165 a0001c0004t0009g0166 a0001c0018t0002g0042 a0001c0018t0002g0098 a0001c0024t0002g0364 a0006c0008t0001g0198 a0006c0008t0003g0284 a0006c0008t0003g0290 a0006c0008t0003g0348 a0006c0008t0003g0349 a0006c0008t0003g0350 a0006c0008t0003g0356 a0007c0009t0003g0111 a0007c0009t0003g0112 a0007c0009t0003g0113 a0007c0009t0003g0114 a0007c0009t0003g0115 a0007c0009t0003g0116 a0009c0015t0011g0386 a0009c0015t0013g0390 a0009c0015t0013g0391 a0010c0028t0002g0096	71	327	0.2171	104	c.898 others(119): Show c.898+816_898+817insTGGGGAGAGCCCTACAGCCTCTTCCCAGAC CACGCTGAGGGGGGCCCTGCAGCCTCTTCCCAGACCACGCGGGGGGCCCT GCAGCCTCTTCCCAGACCACGCGG	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	8/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88834407	T T	TGGGAAGA others(97): Show TGGGAAGAGGCTGCAGGGCCCCCCGCGTGGTCTGGGAAGAGGCTGCAGGG CCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCTCTCCCCACCGCGT GGTCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp2 HG01884.hp1 others(15): Show HG00639.hp2 HG01109.hp2 HG01884.hp1 HG02055.hp2 HG02258.hp2 HG02451.hp2 HG02723.hp1 HG02895.hp1 HG02896.hp2 HG02970.hp1 HG02976.hp1 HG03195.hp2 HG03225.hp2 HG03486.hp2 NA19240.hp2 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0013	a0001c0002 a0003c0007 a0003c0016 others(3): Show a0001c0002 a0003c0007 a0003c0016 a0005c0013 a0005c0017 a0013c0020	a0001c0002t0004 a0003c0007t0004 a0003c0016t0004 others(5): Show a0001c0002t0004 a0003c0007t0004 a0003c0016t0004 a0005c0013t0007 a0005c0013t0012 a0005c0017t0015 a0005c0017t0016 a0013c0020t0021	a0001c0002t0004g0012 a0001c0002t0004g0013 a0003c0007t0004g0029 others(15): Show a0001c0002t0004g0012 a0001c0002t0004g0013 a0003c0007t0004g0029 a0003c0007t0004g0069 a0003c0007t0004g0107 a0003c0007t0004g0108 a0003c0007t0004g0109 a0003c0007t0004g0110 a0003c0007t0004g0118 a0003c0016t0004g0027 a0003c0016t0004g0028 a0005c0013t0007g0383 a0005c0013t0007g0384 a0005c0013t0012g0394 a0005c0013t0012g0395 a0005c0017t0015g0134 a0005c0017t0016g0387 a0013c0020t0021g0388	18	395	0.0456	104	c.898 others(119): Show c.898+805_898+806insGGACCACGCGGTGGGGAGAGCCCTACAGCC TCTTCCCAGACCACGCTGAGGGGGGCCCTGCAGCCTCTTCCCAGACCACG CGGGGGGCCCTGCAGCCTCTTCCC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	8/13			chr16	TogoVar
GALNT13_chr2_153866922_154458979	154298775	T T	TACATTGT others(97): Show TACATTGTATATACAATTTATATATACAATGTATATATAAATTATATATA CATTGTATATACAATTTATATATACATTGTATATACAATTTATATATAAA TTATA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19062.hp1 NA19057.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0018 a0001c0001t0013 a0001c0001t0018	a0001c0001t0013g0152 a0001c0001t0018g0153 a0001c0001t0013g0152 a0001c0001t0018g0153	2	152	0.0132	104	c.976 others(121): Show c.976-2634_976-2633insACATTGTATATACAATTTATATATACAA TGTATATATAAATTATATATACATTGTATATACAATTTATATATACATTG TATATACAATTTATATATAAATTATA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12			chr2	TogoVar
GALNTL6_chr4_171808404_173046559	172546820	G G	GTATATAT others(97): Show GTATATATATACGTATATATATGCGTATATATATACGTATATATATACGC ATATATATACTTATATACGTATATATATACGTATATATATGTATATATAT ACATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02723.hp2 NA18522.hp2 HG02717.hp2 HG02723.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0022 a0001c0001t0002g0037 a0001c0002t0003g0001 a0001c0001t0002g0022 a0001c0001t0002g0037 a0001c0002t0003g0001	3	11	0.2727	104	c.553 others(125): Show c.553+198136_553+198137insATATACGTATATATATGCGTATAT ATATACGTATATATATACGCATATATATACTTATATACGTATATATATAC GTATATATATGTATATATATACATATATAT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172546820	G G	GTATATAT others(97): Show GTATATATATACGTATATATATGTGTATATATATACGTATATATATACGC ATATATATACTTATATACGTATATATATACGTATATATATGTATATATAT ACATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp1 HG02145.hp2 others(21): Show HG01884.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02735.hp2 HG02965.hp1 HG02965.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0017 others(21): Show a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0004g0002 a0001c0001t0004g0013 a0001c0001t0008g0010 a0001c0001t0009g0024 a0001c0001t0010g0021 a0001c0001t0012g0027 a0001c0002t0001g0016 a0001c0003t0001g0005	24	32	0.7500	104	c.553 others(125): Show c.553+198136_553+198137insATATACGTATATATATGTGTATAT ATATACGTATATATATACGCATATATATACTTATATACGTATATATATAC GTATATATATGTATATATATACATATATAT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172546822	A A	ATATATAT others(97): Show ATATATATACGTATATATATGTGTATATATATACGTATATATATACGCAT ATATATACTTATATACGTATATATATACGTATATATATGTATATATATAC ATATG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0038 a0001c0004t0002g0038	1	40	0.0250	104	c.553 others(125): Show c.553+198136_553+198137insATATACGTATATATATGTGTATAT ATATACGTATATATATACGCATATATATACTTATATACGTATATATATAC GTATATATATGTATATATATACATATGTAT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GARIN4_chr1_212619474_212631775	212631621	C C	CCCAGAAC others(97): Show CCCAGAACCCTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAG TGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0002 a0002c0024t0002	a0002c0024t0002g0000 a0002c0024t0002g0000	1	466	0.0021	104	c.49 others(115): Show c.4959_*4960insCCAGAACCCTGTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCG GACTGCGGACTGCAGTGGCG	GARIN4	ENSG00000162771.8	transcript	ENST00000294829.5	protein_coding		4847		chr1	TogoVar
GATB_chr4_151665504_151766007	151697943	G G	GTGTGTGT others(97): Show GTGTGTGTATATATATATATATATGTGTGTGTATATATATATATATATAT ATATGTGTGTATATATATATATATATATATGTGTGTATATATATATATAT ATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	314	0.0032	104	c.119 others(123): Show c.1197+3385_1197+3386insTATATATATATATATATATACACACA TATATATATATATATATATACACACATATATATATATATATATATATACA CACACATATATATATATATATACACACA	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	9/12			chr4	TogoVar
GCNT2_chr6_10516351_10634368	10606603	C C	CTTCCATT others(97): Show CTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTAATGGA AATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTAATG GAAAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG00735.hp2 others(43): Show HG00323.hp2 HG00558.hp2 HG00735.hp2 HG01175.hp1 HG01361.hp2 HG01928.hp2 HG01978.hp2 HG01993.hp2 HG02055.hp1 HG02083.hp1 HG02109.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02630.hp2 HG02698.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp2 NA18954.hp1 NA18955.hp1 NA18986.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0016	a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0024 others(42): Show a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0082 a0001c0001t0001g0097 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0147 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0281 a0001c0001t0001g0296 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0315 a0001c0001t0002g0033 a0001c0001t0002g0045 a0001c0001t0002g0063 a0001c0001t0002g0093 a0001c0001t0002g0118 a0001c0001t0002g0122 a0001c0001t0002g0136 a0001c0001t0002g0210 a0001c0001t0002g0213 a0001c0001t0002g0221 a0001c0001t0002g0241 a0001c0001t0002g0292 a0001c0001t0004g0146 a0001c0001t0006g0166 a0001c0001t0006g0170 a0001c0001t0016g0165	46	170	0.2706	104	c.926 others(123): Show c.926-14676_926-14675insGGAAATTTCCATTAAAGAAATTTAAT GGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTA ATGGAAATTTCCATTAAAGAAATTTAAT	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10606603	C C	CTTCCATT others(97): Show CTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTAATGGA AATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTAATG GAAAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00735.hp2 others(49): Show HG00323.hp1 HG00558.hp1 HG00735.hp2 HG01070.hp2 HG01175.hp2 HG01361.hp1 HG01928.hp2 HG01978.hp1 HG01993.hp1 HG02055.hp2 HG02083.hp2 HG02109.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03579.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18954.hp1 NA18955.hp2 NA18986.hp2 NA19030.hp1 NA19072.hp2 NA19086.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0002c0003 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0002t0002 a0001c0004t0018 a0001c0007t0001 a0002c0003t0001 a0004c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0012 others(48): Show a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0089 a0001c0001t0001g0118 a0001c0001t0001g0127 a0001c0001t0001g0146 a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0257 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0331 a0001c0001t0002g0021 a0001c0001t0002g0027 a0001c0001t0002g0031 a0001c0001t0002g0038 a0001c0001t0002g0045 a0001c0001t0002g0052 a0001c0001t0002g0057 a0001c0001t0002g0085 a0001c0001t0002g0147 a0001c0001t0002g0150 a0001c0001t0002g0190 a0001c0001t0002g0195 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0004g0269 a0001c0001t0005g0325 a0001c0001t0008g0304 a0001c0001t0008g0334 a0001c0002t0002g0290 a0001c0004t0018g0329 a0001c0007t0001g0017 a0002c0003t0001g0270 a0004c0008t0001g0041	52	187	0.2781	104	c.920 others(123): Show c.920-14676_920-14675insGGAAATTTCCATTAAAGAAATTTAAT GGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTA ATGGAAATTTCCATTAAAGAAATTTAAT	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GKN1_chr2_68969636_68985976	68978271	G G	GGAAGGAA others(97): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAAAGAA AGAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0064 a0001c0003t0002g0064	1	220	0.0045	104	c.204 others(119): Show c.204+500_204+501insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAGAGAGAGAAAGAAAGAAAGAA	GKN1	ENSG00000169605.7	transcript	ENST00000377938.4	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
GKN1_chr2_68969636_68985976	68978271	G G	GGAAGGAA others(97): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAAAGAAAGAAAGAAAGAA AGAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0058 a0001c0003t0002g0058	1	220	0.0045	104	c.204 others(119): Show c.204+500_204+501insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAA AGAAAGAAAGAAAGAAAGAAAGAA	GKN1	ENSG00000169605.7	transcript	ENST00000377938.4	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
GKN1_chr2_68969636_68985976	68978271	G G	GGAAGGAA others(97): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAA AGAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0062 a0001c0003t0002g0062	1	220	0.0045	104	c.204 others(119): Show c.204+500_204+501insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAG AGAGAGAAAGAAAGAAAGAAAGAA	GKN1	ENSG00000169605.7	transcript	ENST00000377938.4	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
GLT1D1_chr12_128848478_128989968	128879376	C C	CTCTTTCT others(97): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0031 a0001c0006t0005g0031	1	285	0.0035	104	c.217 others(121): Show c.217+3315_217+3316insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GMEB2_chr20_63582605_63632101	63607371	C C	CCCACATC others(97): Show CCCACATCCATTTCTAGAAACATGCCCCTGTGACCCCACATCCATTTCTA GAAACATGCCCCTCTGACCCACACCTCCATTTCTAGAAACATGCCCCTCT GACCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp1 HG02717.hp2 others(2): Show HG02451.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0116 a0001c0001t0001g0117 others(1): Show a0001c0001t0001g0022 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119	5	216	0.0231	104	c.132 others(121): Show c.132-2532_132-2531insAGGTCAGAGGGGCATGTTTCTAGAAATG GAGGTGTGGGTCAGAGGGGCATGTTTCTAGAAATGGATGTGGGGTCACAG GGGCATGTTTCTAGAAATGGATGTGG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63608289	C C	CCCCACAC others(97): Show CCCCACACATCCATTTCTAGAAACATGCCCCTCTGACCCACCTCCATTTC CAGAAACATGCCCCTCTGACCCCACACATCCATTTCTAGAAACATGTCCC TCTGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02896.hp1 HG02897.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0025 a0001c0005t0008 a0001c0005t0025	a0001c0005t0008g0271 a0001c0005t0008g0272 a0001c0005t0025g0273 a0001c0005t0008g0271 a0001c0005t0008g0272 a0001c0005t0025g0273	3	328	0.0091	104	c.132 others(121): Show c.132-3450_132-3449insTCAGAGGGACATGTTTCTAGAAATGGAT GTGTGGGGTCAGAGGGGCATGTTTCTGGAAATGGAGGTGGGTCAGAGGGG CATGTTTCTAGAAATGGATGTGTGGG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63609417	C C	CCACACAT others(97): Show CCACACATCCATTTCTAGAAACATGCCCCTCTGACCCACCTCCATTTCCA GAAACATGCCCCTCTGACCCCACACATCCATTTCTAGAAACATGTCCCTC TGACT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18984.hp1 NA19081.hp2 NA18983.hp2 NA18984.hp1 NA19081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0130 a0001c0003t0002g0139 a0001c0003t0002g0165 a0001c0003t0002g0130 a0001c0003t0002g0139 a0001c0003t0002g0165	3	271	0.0111	104	c.132 others(121): Show c.132-4578_132-4577insAGTCAGAGGGACATGTTTCTAGAAATGG ATGTGTGGGGTCAGAGGGGCATGTTTCTGGAAATGGAGGTGGGTCAGAGG GGCATGTTTCTAGAAATGGATGTGTG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar

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