Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
GRID1_chr10_85594552_86371795	86121548	T T	TATCTCAC others(494): Show TATCTCACCATCATTATCACCATCAGCATCATCATCACCATCATTATGAC CATCATCATAATCATCATCACAATCATCATCATCACCACCATCACCATCA TCACCATCACCATTACCATCATCACCATCACCATCATCATCACTACCATC ATCACCATCATCACCATCACCATCATCATCACTACCATCATCACCATCAT CACCATCACCATTATCTCACCATCATTATCACCATCAGCATCATCATCAC CATCATTATCACCATCATCATAATCATCATCACAATCATCATCATCACCA CCATCACCATCATCACCATCACCATTACCATCATCACCATTATCACCACC ATCACCATCATCTTACCATCATTATCACCATCATCATCACCATCACCACC ATCATTACCATTACCATCATCTCACCATCATTATCACCATCATCATCACA CTGTCACCAACATCTCACTATCATTATCACCACCATCATCACCATTACCA TC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	50	0.0200	501	c.726 others(520): Show c.726+17270_726+17271insGATGGTAATGGTGATGATGGTGGTGA TAATGATAGTGAGATGTTGGTGACAGTGTGATGATGATGGTGATAATGAT GGTGAGATGATGGTAATGGTAATGATGGTGGTGATGGTGATGATGATGGT GATAATGATGGTAAGATGATGGTGATGGTGGTGATAATGGTGATGATGGT AATGGTGATGGTGATGATGGTGATGGTGGTGATGATGATGATTGTGATGA TGATTATGATGATGGTGATAATGATGGTGATGATGATGCTGATGGTGATA ATGATGGTGAGATAATGGTGATGGTGATGATGGTGATGATGGTAGTGATG ATGATGGTGATGGTGATGATGGTGATGATGGTAGTGATGATGATGGTGAT GGTGATGATGGTAATGGTGATGGTGATGATGGTGATGGTGGTGATGATGA TGATTGTGATGATGATTATGATGATGGTCATAATGATGGTGATGATGATG CTGATGGTGATAATGATGGTGAGAT	GRID1	ENSG00000182771.19	transcript	ENST00000327946.12	protein_coding	4/15			chr10	TogoVar
GRID1_chr10_85594552_86371795	86121548	T T	TATCTCAC others(494): Show TATCTCACCATCATTATCACCATCAGCATGATCATCACCATCATTATCAC CATCATCATAATCATCATCACAATCATCATCATCACCACCATCACCATCA TCACCATCACCATTACCATCATCACCATCACCATCATCATCACTACCATC ATCACCATCATCACCATCACCATCATCATCACTACCATCATCACCATCAT CACCATCACCATTATCTCACCATCATTATCACCATCAGCATCATCATCAC CATCATTATCACCATCATCATAATCATCATCACAATCATCATCATCACCA CCATCACCATCATCACCATCACCATTACCATCATCACCATTATCACCACC ATCACCATCATCTTACCATCATTATCACCATCATCATCACCATCACCACC ATCATTACCATTACCATCATCTCACCATCATTATCACCATCATCATCACA CTGTCACCAACATCTCACTATCATTATCACCACCATCATCACCATTACCA TC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00741.hp1 others(26): Show HG00558.hp1 HG00558.hp2 HG00741.hp1 HG01069.hp1 HG01081.hp1 HG01109.hp2 HG01516.hp1 HG01516.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG02080.hp1 HG02735.hp1 HG02735.hp2 HG03017.hp1 HG03195.hp2 HG03490.hp2 HG03492.hp1 HG04199.hp1 HG04204.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18981.hp1 NA19043.hp1 NA19081.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0009 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0032 a0001c0001t0037 a0001c0001t0040 a0001c0002t0004 a0001c0002t0024 a0001c0002t0038 a0001c0002t0042 a0001c0002t0044 a0001c0003t0033 a0001c0003t0048 a0001c0003t0055 a0001c0008t0046 a0001c0009t0052 a0003c0006t0020 a0003c0006t0021	a0001c0001t0001g0004 a0001c0001t0001g0025 a0001c0001t0001g0031 others(26): Show a0001c0001t0001g0004 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0002g0012 a0001c0001t0002g0027 a0001c0001t0002g0032 a0001c0001t0009g0005 a0001c0001t0009g0014 a0001c0001t0012g0019 a0001c0001t0016g0042 a0001c0001t0016g0043 a0001c0001t0017g0001 a0001c0001t0019g0041 a0001c0001t0032g0035 a0001c0001t0037g0033 a0001c0001t0040g0008 a0001c0002t0004g0067 a0001c0002t0004g0069 a0001c0002t0024g0086 a0001c0002t0038g0056 a0001c0002t0042g0080 a0001c0002t0044g0064 a0001c0003t0033g0023 a0001c0003t0048g0038 a0001c0003t0055g0044 a0001c0008t0046g0018 a0001c0009t0052g0030 a0003c0006t0020g0026 a0003c0006t0021g0034	29	78	0.3718	501	c.726 others(520): Show c.726+17270_726+17271insGATGGTAATGGTGATGATGGTGGTGA TAATGATAGTGAGATGTTGGTGACAGTGTGATGATGATGGTGATAATGAT GGTGAGATGATGGTAATGGTAATGATGGTGGTGATGGTGATGATGATGGT GATAATGATGGTAAGATGATGGTGATGGTGGTGATAATGGTGATGATGGT AATGGTGATGGTGATGATGGTGATGGTGGTGATGATGATGATTGTGATGA TGATTATGATGATGGTGATAATGATGGTGATGATGATGCTGATGGTGATA ATGATGGTGAGATAATGGTGATGGTGATGATGGTGATGATGGTAGTGATG ATGATGGTGATGGTGATGATGGTGATGATGGTAGTGATGATGATGGTGAT GGTGATGATGGTAATGGTGATGGTGATGATGGTGATGGTGGTGATGATGA TGATTGTGATGATGATTATGATGATGGTGATAATGATGGTGATGATCATG CTGATGGTGATAATGATGGTGAGAT	GRID1	ENSG00000182771.19	transcript	ENST00000327946.12	protein_coding	4/15			chr10	TogoVar
HCN1_chr5_45249948_45701380	45376251	A A	AGAATATA others(494): Show AGAATATAGAATATATATTCTATATAGAATATATATTCTATATAGAATAT ATATTCTATATAGAATATAGAATATATATTCTATATAGAATATATATTCT ATATAGAATATAGAATATATATTCTATATAGAATATATATTCTATATAGA ATATATATTCTATATACTATATAGAATATATATTCTATATAGAATATATA TTCTATATACTATATAGAATATATATTCTATATAGAATATATATTCTATA TAGAATATAGAATATATATTCTATATAGAATATAGAATATATATTCTATA TAGAATATATATTCTATATAGAATATATATTCTATATAGAATATATATTC TATATAGAATATATATTCTATATTGAATATAGAATATATATTCTATATTC TATATTACATATAGAATATAGAATATATATTCTATATTCTATATTACATA TAGAATATAGAATATATATTCTATATAGAATATATATTCTATATAATATA TG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	3	0.3333	501	c.123 others(522): Show c.1230+20240_1230+20241insCATATATTATATAGAATATATATT CTATATAGAATATATATTCTATATTCTATATGTAATATAGAATATAGAAT ATATATTCTATATTCTATATGTAATATAGAATATAGAATATATATTCTAT ATTCAATATAGAATATATATTCTATATAGAATATATATTCTATATAGAAT ATATATTCTATATAGAATATATATTCTATATAGAATATATATTCTATATT CTATATAGAATATATATTCTATATTCTATATAGAATATATATTCTATATA GAATATATATTCTATATAGTATATAGAATATATATTCTATATAGAATATA TATTCTATATAGTATATAGAATATATATTCTATATAGAATATATATTCTA TATAGAATATATATTCTATATTCTATATAGAATATATATTCTATATAGAA TATATATTCTATATTCTATATAGAATATATATTCTATATAGAATATATAT TCTATATAGAATATATATTCTATATTC	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HIVEP3_chr1_41501365_41923922	41544953	T T	TCTACCAC others(494): Show TCTACCACCACCATCACCACCACCACTACCACCACCACCACCACCACCAC CACCACCACCACTATCACCACCTCTACCACCACCACCACCACCACCACTA CCACCTCTACCACCACCATCATCACCACCACCACTACCACCTCTACCACC ACCATCACCACCACCACCACCATCACCTCTACCACCACCATCATCACCAC CACCACTACCACCTCTACCACCACCATCACCACCACCACCACCATCACCT CTACCACCACCATCACCACCACCACTACCACCACCATCACCACCACCACC ACCACCACCACCTCTACCACCACCATCACCACCACCACCACCATCACCTC TACCACCACCATCACCACCACCACTACCACCACCATCACCACCACCACCA CCACCACCACCTCTACCACCACCATCACCACCACCACCACCATCACCTCT ACCACCACCATCACTACTACCACCACCACCATCACCACCTCTACCACCAT CG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0014 a0013c0015t0014	a0013c0015t0014g0024 a0013c0015t0014g0024	1	19	0.0526	501	c.520 others(522): Show c.5208-20044_5208-20043insCGATGGTGGTAGAGGTGGTGATGG TGGTGGTGGTAGTAGTGATGGTGGTGGTAGAGGTGATGGTGGTGGTGGTG GTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGATGGTGGTGGTGGTGG TGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG GTAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGATGGTGGTGGTGGTGGT GATGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGATGATGGTGGTGGTAG AGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTAGTGGTG GTGGTGATGATGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGGTGGTGGT GGTAGAGGTGGTGATAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TAGTGGTGGTGGTGATGGTGGTGGTAG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
IGF2_chr11_2124117_2144389	2127185	A A	AGGGATGA others(494): Show AGGGATGAGTGGATGGATGGGTGGAGGGATGGGTGGTTGGATGGTTGGAT GGATGGGTGGAGGGATGGGTGGATGGATGGGTGGCTGGATGGGTGTAGGG ATGGGTGGAGGGATGAGTGGATGGATGAGTGGAGGGATGGGTGGAGGGAT GGGTGGAGGGATGGGTGGTTGGATGGTTGGATGGATGGGTGGAGGGATAG GTGGATGGATGGGTGGAGGGATGGGTGGATGGATGGGTGGCTGGATGGGT AGGGGATGGGTGGAGGGATGAGTGGATGGATGAGTGGAGGGATGGGTGGA GGGATGGTTGGATGGATGGGTGGAGGGATGGGTGGTTGGATGGTTGGATG GATGGGTGGAGGGATGGGTGGATGGATGGGTGGCTGGATGGGTAGGGGAT GGGTGGAGGGATGAGTGGAGGGATGGGTGGAGGGATAGGTGGATGGATGG GGGGATGGATGGGTGGAGGGATGGGTGGATGGATGGGTGGCTGGATGGGT AG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0159 a0001c0001t0159	a0001c0001t0159g0228 a0001c0001t0159g0228	1	372	0.0027	501	c.58 others(512): Show c.5801_*5802insCTACCCATCCAGCCACCCATCCATCCACCCATCC CTCCACCCATCCATCCCCCCATCCATCCACCTATCCCTCCACCCATCCCT CCACTCATCCCTCCACCCATCCCCTACCCATCCAGCCACCCATCCATCCA CCCATCCCTCCACCCATCCATCCAACCATCCAACCACCCATCCCTCCACC CATCCATCCAACCATCCCTCCACCCATCCCTCCACTCATCCATCCACTCA TCCCTCCACCCATCCCCTACCCATCCAGCCACCCATCCATCCACCCATCC CTCCACCCATCCATCCACCTATCCCTCCACCCATCCATCCAACCATCCAA CCACCCATCCCTCCACCCATCCCTCCACCCATCCCTCCACTCATCCATCC ACTCATCCCTCCACCCATCCCTACACCCATCCAGCCACCCATCCATCCAC CCATCCCTCCACCCATCCATCCAACCATCCAACCACCCATCCCTCCACCC ATCCATCCACTCATCCC	IGF2	ENSG00000167244.22	transcript	ENST00000416167.7	protein_coding		1931		chr11	TogoVar
IGF2_chr11_2124117_2144389	2127185	A A	AGGGATGA others(494): Show AGGGATGAGTGGATGGATGGGTGGAGGGATGGGTGGTTGGATGGTTGGAT GGATGGGTGGAGGGATGGGTGGATGGATGGGTGGCTGGATGGGTGTAGGG ATGGGTGGAGGGATGAGTGGATGGATGAGTGGAGGGATGGGTGGAGGGAT GGGTGGAGGGATGGGTGGTTGGATGGTTGGATGGATGGGTGGAGGGATGG GTGGATGGATGGGTGGAGGGATGGGTGGATGGATGGGTGGCTGGATGGGT AGGGGATGGGTGGAGGGATGAGTGGATGGATGAGTGGAGGGATGGGTGGA GGGATGGTTGGATGGATGGGTGGAGGGATGGGTGGTTGGATGGTTGGATG GATGGGTGGAGGGATGGGTGGATGGATGGGTGGCTGGATGGGTAGGGGAT GGGTGGAGGGATGAGTGGAGGGATGGGTGGAGGGATAGGTGGATGGATGG GGGGATGGATGGGTGGAGGGATGGGTGGATGGATGGGTGGCTGGATGGGT AG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02559.hp2 HG01243.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0107 a0001c0001t0062 a0001c0001t0107	a0001c0001t0062g0041 a0001c0001t0107g0120 a0001c0001t0062g0041 a0001c0001t0107g0120	2	373	0.0054	501	c.58 others(512): Show c.5801_*5802insCTACCCATCCAGCCACCCATCCATCCACCCATCC CTCCACCCATCCATCCCCCCATCCATCCACCTATCCCTCCACCCATCCCT CCACTCATCCCTCCACCCATCCCCTACCCATCCAGCCACCCATCCATCCA CCCATCCCTCCACCCATCCATCCAACCATCCAACCACCCATCCCTCCACC CATCCATCCAACCATCCCTCCACCCATCCCTCCACTCATCCATCCACTCA TCCCTCCACCCATCCCCTACCCATCCAGCCACCCATCCATCCACCCATCC CTCCACCCATCCATCCACCCATCCCTCCACCCATCCATCCAACCATCCAA CCACCCATCCCTCCACCCATCCCTCCACCCATCCCTCCACTCATCCATCC ACTCATCCCTCCACCCATCCCTACACCCATCCAGCCACCCATCCATCCAC CCATCCCTCCACCCATCCATCCAACCATCCAACCACCCATCCCTCCACCC ATCCATCCACTCATCCC	IGF2	ENSG00000167244.22	transcript	ENST00000416167.7	protein_coding		1931		chr11	TogoVar
IQSEC3_chr12_61767_183455	163273	C C	CCTCCCTC others(494): Show CCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCG GACCCCTCCCCTCCCCCTCCACAGAACCGGACCCCTCCCTTCCCCTCCCT CCACAGAACCGGAGCCCTCCCCTCCCCTCCCCTCCACAGAACCGGACCCC TCCCCTCCCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAG AACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTC TCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCCTCCACAGAACCGGA CCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCC TCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCC TCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCA CAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCC CT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0039 a0001c0002t0002g0039	1	262	0.0038	501	c.258 others(518): Show c.2584-202_2584-201insGCCCTCCCCTCTCCTCCCTCCACAGAAC CGGACCCCTCCCCTCCCCCTCCACAGAACCGGACCCCTCCCTTCCCCTCC CTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCCTCCACAGAACCGGACC CCTCCCCTCCCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCAC AGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCC TCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCCTCCACAGAACCG GACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTC CCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGACC CCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTC CACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTC CCCTCTCCCTCCACAGAACCGGA	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
JAKMIP3_chr10_132060946_132189858	132173111	C C	CCTCCTTC others(494): Show CCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCCTCC CCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCCCC CTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCC CCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCT CCCCCTCCCCCTCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCATCCCC TCCCCCCTCTCTCTCCCCCTCTCTGTCCCCCTCCCCTCCCCCCTATCCCC CTCCCCCTCCCCCTCCCCCCATCCCCCTCCCCCTCATCCCCCTCCCCCTC CTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCT CTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTTCCCTCTCTC TCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTCCCTCTCTCT CT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0034 a0003c0002t0001g0034	1	152	0.0066	501	c.11 others(522): Show c.1103+4082_*1103+4083insTTCCCTCTCTCTCTCCCCCTCCTT CCCTCTCTCTCTCCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCC CCTCCTTCCCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCC TCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCT CTCTCTCCCCCTCCCCCCTCTCCCCCTCCCCCTCTCTCCCCCTCCCCCTC CCCCTCCCCTCCCCCATCCCCTCCCCCCTCTCTCTCCCCCTCTCTGTCCC CCTCCCCTCCCCCCTATCCCCCTCCCCCTCCCCCTCCCCCCATCCCCCTC CCCCTCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCT CTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTC TCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCT CTCCCCCCCCTCCCTCTCTCTCTCTCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
LAMC1_chr1_183018420_183150592	183149453	T T	TCCTCACA others(494): Show TCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTCA CATCCCTCTCCTCACACACCACACAGCCCACACCCCTGTCCTCCTCACAC ACCACACAGCCCACACCCCTCTCCTCACACACCACACAGCTCACATCCCT CTCCTCACACACCACACAGCCCACACCCCTGTCCTCCTCACACACCACAC AGCTCACACCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCC TCACACCACACAGCCCACACCCCTCTCCTGCTCACACACCACACAGCCCA CACCCCTCTCCTGCTCACACACCACACAGCTCACACCCCTGTCCTCCTCA CACACCACACAGCCCACACCCCTCTCCTCCTCACACCACAGAGCCCACAC CCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACA CAGCCCACACCCCTGTCCTCCTCACACACCACACAGCCCACACCCCTCCT CA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 NA18957.hp2 HG02027.hp2 NA18957.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0063 a0001c0002t0002g0103 a0001c0002t0002g0063 a0001c0002t0002g0103	2	167	0.0120	501	c.66 others(512): Show c.6663_*6664insCCTCACACCACAGAGCCCACACCCCTCTCCTCAC ACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCCCACACCC CTGTCCTCCTCACACACCACACAGCCCACACCCCTCTCCTCACACACCAC ACAGCTCACATCCCTCTCCTCACACACCACACAGCCCACACCCCTGTCCT CCTCACACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCTC ACACCCCTCTCCTCCTCACACCACACAGCCCACACCCCTCTCCTGCTCAC ACACCACACAGCCCACACCCCTCTCCTGCTCACACACCACACAGCTCACA CCCCTGTCCTCCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACA CCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTCACATCCCTC TCCTCACACACCACACAGCCCACACCCCTGTCCTCCTCACACACCACACA GCCCACACCCCTCCTCA	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3862		chr1	TogoVar
LHPP_chr10_124456823_124619141	124610422	A A	AGGGTGAG others(494): Show AGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGT GGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGC GGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTG GAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCG GGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGG AGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGAGG GTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCT GGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGG AGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTG GTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGT GC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	98	0.0102	501	c.717 others(518): Show c.717-2828_717-2827insGTGGAGCGGGTGAGGGTGCGGGTGAGGG TGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTG AGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGT GCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGA GGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTG CTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAG GGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGA GGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGG GTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGTGAG GGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGG TGAGGGTGCGGGTGAGGGTGCTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRP2_chr2_169122109_169367534	169327875	A A	AGGGAGGT others(494): Show AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGACGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAG GGAGGTGGGGGCGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGTGAGCCCCACGTCCGGGAGGGAGGTGGGGGGGGGGTCA GCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTCAGCCC CCCGCCCAGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCAG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCGCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGACGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGACGCCCCGTCCG GG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0011 a0011	a0011c0142 a0011c0142	a0011c0142t0006 a0011c0142t0006	a0011c0142t0006g0058 a0011c0142t0006g0058	1	180	0.0056	501	c.80- others(516): Show c.80-6992_80-6991insCCCGGACGGGGCGTCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGTCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGCGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCTGG ACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGAC GTGGGGCTCACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACGCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGTCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCC	LRP2	ENSG00000081479.15	transcript	ENST00000649046.1	protein_coding	1/78			chr2	TogoVar
LRP5_chr11_68307591_68454275	68428943	A A	AAAAAAAG others(494): Show AAAAAAAGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGA GGCTGAGGCAGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTA ACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATGGCCGGGC GCAGTGGCTCCCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTG AATTACAAGGTCAAGAGATCGAGACCATCTTGGCTAACACGGTGAAACCC CATCAAGATCACAAGGTCAAGAGATGGAGACCATCCTGGCTAACACGGTG AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTAGCGG GCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCGGAGCTTGCGGTGAGCCGAGATCGCTCCATGCCACTGCA CTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAA AG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02809.hp2 HG02615.hp2 HG02809.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0015 a0001c0005t0001g0211 a0001c0005t0001g0015 a0001c0005t0001g0211	2	62	0.0323	501	c.363 others(518): Show c.3638-628_3638-627insAAGCCAGGTGTGGTGGCTCACACCTGTA ATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGAT TGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTATGGCCGGGCGCAGTGGCTCCCGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGTGGGTGAATTACAAGGTCAAGAGATCGAGACCATCTTGG CTAACACGGTGAAACCCCATCAAGATCACAAGGTCAAGAGATGGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCATGGTAGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCGGTGAGCCGAGAT CGCTCCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCT CAAAAAAAAAAAAAAAAAGAAAA	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
MSH4_chr1_75791882_75918242	75906495	T T	TATTATAT others(494): Show TATTATATATAATATATATACAATATTATATATATTATATATAATATATA TACATATTATATATATTATATATATACATATATATGTATATATACATATA TAATATGTATATATGTATATATATGTATAATATATATATTGTATATATAT ATTATACATATGTATATATATATTATACATATATATATGTATAATATATA TAATGTATATATATACATATTATATATTATATATAATATATACATATATA TTATATATAATATATACATATTATATATTATATATATAATATATATACAT ATTATATATAATATATATACATATTACATATATTATATATAATATATATA CATATATAATATATTATATATTATATATAATATATATAATATATAATATA TATATAATATAATATATTATATATTATATATAATATATATAATATATAAT ATATTATATATTATATATAATATATATAATATATAATATATTATATAATA TA	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0281 a0001c0002t0001g0281	1	263	0.0038	501	c.262 others(520): Show c.2620-6201_2620-6200insATTATATATAATATATATACAATATT ATATATATTATATATAATATATATACATATTATATATATTATATATATAC ATATATATGTATATATACATATATAATATGTATATATGTATATATATGTA TAATATATATATTGTATATATATATTATACATATGTATATATATATTATA CATATATATATGTATAATATATATAATGTATATATATACATATTATATAT TATATATAATATATACATATATATTATATATAATATATACATATTATATA TTATATATATAATATATATACATATTATATATAATATATATACATATTAC ATATATTATATATAATATATATACATATATAATATATTATATATTATATA TAATATATATAATATATAATATATATATAATATAATATATTATATATTAT ATATAATATATATAATATATAATATATTATATATTATATATAATATATAT AATATATAATATATTATATAATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MYO1F_chr19_8515778_8582442	8543828	G G	GTGGTGGT others(494): Show GTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGC TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGCTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGCT GGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTG GTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGT GGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGC TGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGCTGGTGGT GC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0330	1	307	0.0033	501	c.152 others(518): Show c.1524+468_1524+469insGCACCACCAGCACCACCACCACCACCAG CACCACCACCACCACCACCACCACCACCACCACCACCAGCACCACCACCA CCACCAGCACCACCAGCACCACCAGCACCACCACCACCACCACCACCACC ACCAGCACCACCAGCACCACCACCACCACCACCACCACCACCAGCACCAC CAGCACCACCACCACCACCACCACCACCACCAGCACCACCAGCACCACCA CCACCACCAGCACCACCACCACCACCACCACCACCACCACCACCACCAGC ACCACCACCACCACCACCACCACCAGCACCACCACCACCACCAGCACCAC CACCACCACCACCAGCACCACCACCACCACCACCACCACCACCACCACCA CCACCACCACCACCACCACCACCAGCACCACCACCACCACCACCACCACC ACCACCACCACCACCACCACCACCACCACCACCACCACCACCACCACCAC CACCAGCACCACCACCACCACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
NCAPG2_chr7_158626169_158709804	158667898	T T	TCCCTTAC others(494): Show TCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTC CCTCCGCCCTCCTTACCCACTACTGGGTCCCTCTGCCCTCCTTACCTACC TTGTGTCCCTAGGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCT TACCCACTACTGGGTCCCTCTGCCCTCCTTACCTACCTTGTGTCCCTAGG CCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGG GTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACC CACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCC CTCCCTTACCCACTACCGGGTCCCTCCGCCCTCCCTTACCCACTACTGGG TCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCC ACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCC TC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	210	0.0048	501	c.148 others(520): Show c.1480-3149_1480-3148insGAGGGCGGAGGGACCCAGTAGTGGGT AAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCA GTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCG GAGGGACCCGGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTA AGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAG TAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGA GGGACCCAGTAGTGGGTAAGGGAGGGCCTAGGGACACAAGGTAGGTAAGG AGGGCAGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGT GGGTAAGGGAGGGCCTAGGGACACAAGGTAGGTAAGGAGGGCAGAGGGAC CCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGC GGAGGGACCCAGTAGTGGGTAAGGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NFILZ_chr19_8625633_8686151	8656162	G G	GCCACCTT others(494): Show GCCACCTTCTCCCTACAGCCCACCTTGTGCACAAAGCCAGTGTTCTCCCT GCAGCCCACCTTCTCCCTGCAGCCCGCCTTCTCCCAGAAACCCTCCTGCC TTCTCCACGCAGCCCATCTTCTCTCTGAAGCCCACCTTCTCCCCACAGCC CACCTCCTCCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTCCTCCCGCA GCGCACCTCCTCCCTGAAGCCCACCTTCTCTCTGAAGCCCACCTCCTCCC ACAGCCCACCTCCTCCCTGAAGCCCACCTTCTCTCTGAAGCCCACCTCCT CCCGCAGCGCACCTCCTCCCTGAAGCCCCCTTCTTCCTGAAGCCCACCTC TTCCCTGAAGCCCACCTTCTCCCTGAAGCCCACCTCCTCCCACAGCCCAC CTCCTCCCTGAAGCCCACCTTCTCTCTGAAGCCCACCTCCTCCCGCAGCG CACCTCCTCCCTGAAGCCCCCTTCTTCCTGAAGCCCACCTCTTCCCTGAA GC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0226 a0002c0002t0002g0226	1	364	0.0027	501	c.-16 others(522): Show c.-163-18385_-163-18384insCTTCTCCCTACAGCCCACCTTGTG CACAAAGCCAGTGTTCTCCCTGCAGCCCACCTTCTCCCTGCAGCCCGCCT TCTCCCAGAAACCCTCCTGCCTTCTCCACGCAGCCCATCTTCTCTCTGAA GCCCACCTTCTCCCCACAGCCCACCTCCTCCCTGAAGCCCACCTCTTCCC TGAAGCCCACCTCCTCCCGCAGCGCACCTCCTCCCTGAAGCCCACCTTCT CTCTGAAGCCCACCTCCTCCCACAGCCCACCTCCTCCCTGAAGCCCACCT TCTCTCTGAAGCCCACCTCCTCCCGCAGCGCACCTCCTCCCTGAAGCCCC CTTCTTCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCCTGAAGC CCACCTCCTCCCACAGCCCACCTCCTCCCTGAAGCCCACCTTCTCTCTGA AGCCCACCTCCTCCCGCAGCGCACCTCCTCCCTGAAGCCCCCTTCTTCCT GAAGCCCACCTCTTCCCTGAAGCCCAC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(494): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0142 a0001c0003t0001g0142	1	261	0.0038	501	c.91+ others(514): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGCTGAGGGAGTC GGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(494): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0144 a0001c0002t0001g0144	1	261	0.0038	501	c.91+ others(514): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGCTGAGGGAGTC GGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NXN_chr17_794310_984776	841411	T T	TGACCACG others(494): Show TGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCATGGAGC ATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACGCCG GCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTC CCCCCGACCACAGCGCATCTCATGCCGGCGAGCAGGTCCCCCCGACCACA GCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACAGAGCATCTCAC ACAGGCGAGCAGGTCCACCCTGACCACAGCGCATCTCACACCCACAGGCA GGTCCCCCCTGACCACGGAGCATCTCACACAGGCGAGCAGGTCCCCCCTG ACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCTGACCACGGAGCA TCTCACACGGGCGAGCAGGTCCCCCCGACCACAGCGCATCTCATGCCGGC GAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACAGGCAGGTCCCC CC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	222	0.0045	501	c.361 others(520): Show c.361-15334_361-15333insGGGGGGACCTGCCTGTGGGTGTGAGA TGCGCCGTGGTCGGGGGGACCTGCTCGCCGGCATGAGATGCGCTGTGGTC GGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTG CCTGTGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCTGTGT GAGATGCTCCGTGGTCAGGGGGGACCTGCCTGTGGGTGTGAGATGCGCTG TGGTCAGGGTGGACCTGCTCGCCTGTGTGAGATGCTCTGTGGTCAGGGTG GACCTGCTCGCCCGTGTGAGATGCGCTGTGGTCGGGGGGACCTGCTCGCC GGCATGAGATGCGCTGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGC TCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCTCCGTGGTCAG GGGGGACCTGCTCGCCGGCGTGAGATGCTCCATGGTCGGGAGGACCTGCT CGCGGGTGTGAGATGCGCCGTGGTC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841433	G G	GGCGAGCA others(494): Show GGCGAGCAGGTCCACCCTGACCACGGAGCATCTCACACGGGCGAGCGGGT CCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCA CAGAGCATCTCACACGGGCAAGCAGGTCCACCCTGACCACGGCGCATCTC ACACGGGCGAGCAGGTCCCCCCGACCATGGAGCATCTCACACGGGCGAGC AGGTCCACCCTGACCACGGAGCATCTCACACCCACGGGCAGGTCCCCCCG ACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCA TCTCACACGGGCGAGCAGGTCCTCCCGACCATGGAGCATCTCACACCCGC GAGCAGGTCCTCCCGACCATGGAGCATCTCACGCCGGCGAGCAGGTCCCC CCGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGA GCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACAC CC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	179	0.0056	501	c.361 others(520): Show c.361-15356_361-15355insGGGTGTGAGATGCTCCGTGGTCAGGG GGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTC GCCCGTGTGAGATGCTCCGTGGTCGGGGGGACCTGCTCGCCGGCGTGAGA TGCTCCATGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCTCCATGGTC GGGAGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTG CTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTG AGATGCTCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCTCCAT GGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGA CCTGCTTGCCCGTGTGAGATGCTCTGTGGTCGGGGGGACCTGCTCGCCCG TGTGAGATGCTCCGTGGTCAGGGGGGACCCGCTCGCCCGTGTGAGATGCT CCGTGGTCAGGGTGGACCTGCTCGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841547	C C	CGGCGAGC others(494): Show CGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACAGGCAGGT CCCCCCGACCACAGAGCATCTCACACGGGCAAGCAGGTCCACCCTGACCA CGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCA CACGGGCGAGCAGGTCCCCCCGACCACGGAGCATCTCACACGGGCGAGCA GGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTG ACCACGGAGCATCTCACACCCACAGGCAGGTCCCCCCGACCACGGCGCAT CTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGC GAGCAGGTCCACCCTGACCACGGCGCATCTCATGCCGGCGAGCAGGTCCC CCCGACCACGGCGCATCTCACACCCACGGGCAGGTCCCCCCTGACCACAG CGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACA CG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0159 a0001c0009t0006g0159	1	134	0.0075	501	c.361 others(520): Show c.361-15470_361-15469insCGTGTGAGATGCTCCGTGGTCAGGGG GGACCTGCTCGCCCGTGTGAGATGCGCTGTGGTCAGGGGGGACCTGCCCG TGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCGGCATGAGAT GCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTC AGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTG CCTGTGGGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGT GAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCG TGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGA CCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTTGCCC GTGTGAGATGCTCTGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCG CCGTGGTCGGGGGGACCTGCTCGCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841610	A A	AGCGCATC others(494): Show AGCGCATCTCATGCCGGCGAGCAGGTCCACCCTGACCACAGCGCATCTCA CACGGGCGAGCAGGTCCCCCCGACCACGGAGCATCTCACACGGGCGAGCA GGTCCACCCTGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCTG ACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACAGCGCAT CTCATGCCGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACA GGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACC CTGACCACGGCGCATCTCATGCCGGCGAGCAGGTCCACCCTGACCACAGC GCATCTCACATGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACAC GGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACGGGCAGGT CCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCA CG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	64	0.0156	501	c.361 others(520): Show c.361-15533_361-15532insCGTGGTCAGGGGGGACCTGCTCGCCC GTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCG CCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGG TGGACCTGCTCGCCCATGTGAGATGCGCTGTGGTCAGGGTGGACCTGCTC GCCGGCATGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAG ATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGT CGGGGGGACCTGCTCGCCGGCATGAGATGCGCTGTGGTCGGGGGGACCTG CTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCCTGTGGGTGT GAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCTCCG TGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCTGTGGTCAGGGTGG ACCTGCTCGCCGGCATGAGATGCGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR10R2_chr1_158467220_158485936	158473767	C C	CCTTCTTC others(494): Show CCTTCTTCCTTCCTTCCTTCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTT CCTCCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTTCCTCCCTCCCTCCTT CCCTCTTTCCCTCTCTGCTTCCTCCCTCCCTCCTTCCCTCTTTCCCTCTC TGCTTCCTCCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTTCCTTCCTCCC TCCTTCCCTCTTTCCCTCTCTGCTTCCTCCCTCCCTCCTTCCCTCTTTCC CTCTCTGCTTCCTCCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTTCCTCC CTCCCTCCTTCCCTCTTTCCCTCTCTGCTTCCTTCCTCCCTCCTTCCCTC TTTCCCTCTCTGCTTCCTTCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTT CCTCCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTTCCTCCCTCCCTCCTT CCCTCTTTCCCTCTCTGCTTCCTCCCTCCCTCCTTCCCTCTTTCCCTCTC TG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0077 a0003c0003t0001g0077	1	248	0.0040	501	c.27+ others(516): Show c.27+1419_27+1420insTTCCTTCCTTCCTTCCTCCCTCCTTCCCTC TTTCCCTCTCTGCTTCCTCCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTT CCTCCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTTCCTCCCTCCCTCCTT CCCTCTTTCCCTCTCTGCTTCCTCCCTCCCTCCTTCCCTCTTTCCCTCTC TGCTTCCTTCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTTCCTCCCTCCC TCCTTCCCTCTTTCCCTCTCTGCTTCCTCCCTCCCTCCTTCCCTCTTTCC CTCTCTGCTTCCTCCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTTCCTTC CTCCCTCCTTCCCTCTTTCCCTCTCTGCTTCCTTCCTCCCTCCTTCCCTC TTTCCCTCTCTGCTTCCTCCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTT CCTCCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTTCCTCCCTCCCTCCTT CCCTCTTTCCCTCTCTGCTTC	OR10R2	ENSG00000198965.5	transcript	ENST00000641067.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr1	TogoVar
OTOF_chr2_26452203_26483124	26476517	T T	TCCCCACC others(494): Show TCCCCACCCCTTCCCCCACCCCTTCCCCCACCCCTGCCCCACCCTTCCCC CACCCCTTCCCCCACCCCTTCCCCACCCCTTCCCCCACCTTCACCCTTCC CCCACCGCCTTCCCCACCCCTTCCCGGCCACCTCCTTCCCACCCCGGCCC CCACCTCCGGACCACAACCCCGCCACCCTCCCCCAGCCTCCTTCCCACCC CTTCCCCCTACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTC CTTCCCAGCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTC CTTCCCCACCCGTCCCCCACCTCCTTCCCCACCCTTCCCCACCCCCCTTC CCCCACCCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCC CACCCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCACCTCCTTCCCCA CCCTTCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCT TC	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0078 a0001c0003t0001g0078	1	328	0.0030	501	c.436 others(516): Show c.436-201_436-200insGAAGGGTGGGGAAGGAGGTGGGGGAAGGGG TGGGGAAGGAGGTGGGGAAGGGTGGGGAAGGAGGTGGGGAAGGGGTGGGG AAGGAGGTGGGGGAAGGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGG AAGGGGTGGGGAAGGGGTGGGGGAAGGGGGGTGGGGAAGGGTGGGGAAGG AGGTGGGGGACGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGG TGGGGGAAGGGGTGCTGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGG TGGGGGAAGGGGTAGGGGGAAGGGGTGGGAAGGAGGCTGGGGGAGGGTGG CGGGGTTGTGGTCCGGAGGTGGGGGCCGGGGTGGGAAGGAGGTGGCCGGG AAGGGGTGGGGAAGGCGGTGGGGGAAGGGTGAAGGTGGGGGAAGGGGTGG GGAAGGGGTGGGGGAAGGGGTGGGGGAAGGGTGGGGCAGGGGTGGGGGAA GGGGTGGGGGAAGGGGTGGGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
PAK2_chr3_196734857_196837647	196811197	T T	TCCTCCCT others(494): Show TCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTT CCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCCTC CCTTCCTTCCCTTCCCTACCCTCCCTTCCCTTCCTTCCTTCCCTCCCTTC CTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTCCCTTCC CTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTACCC TCCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACCCTCCCTTCCC TCCCTTCCTTCCCTTCCCTCCCTCCTTCCCTCCCTTCCTTCCCTCCCTTC CTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACCCTCCCT TC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	87	0.0115	501	c.773 others(516): Show c.773+554_773+555insCTCCCTTCCTTCCCTTCCCTACCCTCCCTT CCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTC CCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCTC CCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTTCCTTCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCC CTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCT TCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACCC TCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCC TTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCT ACCCTCCCTTCCCTCCCTTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDE10A_chr6_165322289_165668241	165619415	T T	TAGCCTAG others(494): Show TAGCCTAGTGTAGTGTAGGCTAGGGTAGGCTAGTGTAGGCTAGTGTAGTG TAGTAGTGTAGTCTAGTGTAGTGTAGTCTAGTGTAGTCTAGTATAGTGTA GTGTAGTCTAGTGTACTGTAGTGTAGTATAGTGTAGTCTAGTGTGGTGTG GTGTGGTGTAGTGTAGTCTAGTGTAGTCTAGTGTACTGTAGTGTAGTGCA GTGTAGTCTAGTGTAGTACAGTCTAGTGTAGTCTAGTATAGTGTAGTCCA GTGTAGTGTAGTATAGTCTAGTGTACTGTAGTGTAGTGTAGTGTAGTCTA GTGTAGTCTAGTGTACTGTAGTGTAGTGTAGTGTAGTCTAGTGTAGTGTA GTGTAGTCTAGTGTAGTCTAGTGTACTGTAGTGTAGTGTAGTGTAGTCTA GTGTAGTCTAGTGTACTGTAGTGTAATGTAGTCTAGTCTAGTGTAGTCTA GTGTACTGTAGTGTAGTGCATTGGTCTAGTGCAGTGTAGTCTAGTGTAGT AC	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19010.hp2 NA19074.hp2 NA18951.hp1 NA19010.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0005 a0001c0001t0001g0051 a0001c0001t0001g0052	3	218	0.0138	501	c.865 others(520): Show c.865+42531_865+42532insGTACTACACTAGACTACACTGCACTA GACCAATGCACTACACTACAGTACACTAGACTACACTAGACTAGACTACA TTACACTACAGTACACTAGACTACACTAGACTACACTACACTACACTACA GTACACTAGACTACACTAGACTACACTACACTACACTAGACTACACTACA CTACACTACAGTACACTAGACTACACTAGACTACACTACACTACACTACA GTACACTAGACTATACTACACTACACTGGACTACACTATACTAGACTACA CTAGACTGTACTACACTAGACTACACTGCACTACACTACAGTACACTAGA CTACACTAGACTACACTACACCACACCACACCACACTAGACTACACTATA CTACACTACAGTACACTAGACTACACTACACTATACTAGACTACACTAGA CTACACTACACTAGACTACACTACTACACTACACTAGCCTACACTAGCCT ACCCTAGCCTACACTACACTAGGCT	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	1/21			chr6	TogoVar
PDE10A_chr6_165322289_165668241	165619415	T T	TAGCCTAG others(494): Show TAGCCTAGTGTAGTGTAGGCTAGGGTAGGCTAGTGTAGGCTAGTGTAGTG TAGTAGTGTAGTCTAGTGTAGTGTAGTCTAGTGTAGTCTAGTATAGTGTA GTGTAGTCTAGTGTACTGTAGTGTAGTATAGTGTAGTCTAGTGTGGTGTG GTGTGGTGTAGTGTAGTCTAGTGTAGTCTAGTGTACTGTAGTGTAGTGCA GTGTAGTCTAGTGTAGTACAGTCTAGTGTAGTCTAGTATAGTGTAGTCCA GTGTAGTGTAGTATAGTCTAGTGTACTGTAGTGTAGTGTAGTGTAGTCTA GTGTAGTCTAGTGTACTGTAGTGTAGTGTAGTGTAGTCTAGTGTAGTGTA GTGTAGTCTAGTGTAGTCTAGTGTACTGTAGTGTAGTGTAGTGTAGTGTA GTGTAGTCTAGTGTACTGTAGTGTAATGTAGTCTAGTCTAGTGTAGTCTA GTGTACTGTAGTGTAGTGCATTGGTCTAGTGCAGTGTAGTCTAGTGTAGT AC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	216	0.0046	501	c.865 others(520): Show c.865+42531_865+42532insGTACTACACTAGACTACACTGCACTA GACCAATGCACTACACTACAGTACACTAGACTACACTAGACTAGACTACA TTACACTACAGTACACTAGACTACACTACACTACACTACACTACACTACA GTACACTAGACTACACTAGACTACACTACACTACACTAGACTACACTACA CTACACTACAGTACACTAGACTACACTAGACTACACTACACTACACTACA GTACACTAGACTATACTACACTACACTGGACTACACTATACTAGACTACA CTAGACTGTACTACACTAGACTACACTGCACTACACTACAGTACACTAGA CTACACTAGACTACACTACACCACACCACACCACACTAGACTACACTATA CTACACTACAGTACACTAGACTACACTACACTATACTAGACTACACTAGA CTACACTACACTAGACTACACTACTACACTACACTAGCCTACACTAGCCT ACCCTAGCCTACACTACACTAGGCT	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	1/21			chr6	TogoVar
PERM1_chr1_970198_987093	977348	C C	CAACCCCG others(494): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTC CCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCA CCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACT CCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGG AACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCC CG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	364	0.0027	501	c.215 others(518): Show c.2150-725_2150-724insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAG GCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGT GGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGT TCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGA GTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGG GGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGA GGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGC GGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGT TCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGG AGTGGGAGGCGGTTCCCGGGGTT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PLEKHN1_chr1_961482_980865	976875	C C	CAACCCCG others(494): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTC CCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCA CTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGA ACCGCCTCCCACTCCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCC CG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0001 a0001c0032t0001	a0001c0032t0001g0167 a0001c0032t0001g0167	1	408	0.0025	501	c.23 others(512): Show c.2300_*2301insAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCGACCAACCCCGGGAACCGCCTCCCA CTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGG AACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCC CCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGC CTCCCACTCCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCA ACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCC GGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCG CCACCAACCCCGGGAACCGCCTCCCACTCCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1011		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977348	C C	CAACCCCG others(494): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTC CCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCA CCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACT CCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGG AACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCC CG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG03688.hp1 HG02083.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0056 a0001c0001t0014g0047 a0001c0001t0001g0056 a0001c0001t0014g0047	2	375	0.0053	501	c.27 others(512): Show c.2773_*2774insAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCA CTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGG AACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCC CCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGC CTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAA CCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCA CTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGG GAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1484		chr1	TogoVar
RAB11FIP3_chr16_420649_528011	492490	C C	CCGGGAGA others(494): Show CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGA GGCCGTCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCC CGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGC CCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGA CCCGAGGCCGTCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCC CG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	250	0.0040	501	c.126 others(520): Show c.1265+3490_1265+3491insCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCA GGGCCCTTCCCGGGGAGACCCGAGGCCGTCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCC TTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGAGACCCGAGGC CGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCC AGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTTCCCG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13			chr16	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCCT others(494): Show CTCCCCCTCCCCCTTTCCCTCCTTTCCCCTCCCCTCCTTCCCCTTCCCCC TCCCCTCCCTTCTCCCCTCCCTCCCCTTCCCCTCCCCTCCTCTCCCCTCC CCTCCCCTCCCTCCTTCCCCTCTCCGTCTTCCCCTCCCCTCCCCTTCCCT CCCTTTCCACTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCC TCCCCTCCTCTCCCCTCCCTCCCCTCGCCCTTTTCTCCCTTCCCCTCCCA TCCCCTACACTTCCCTCCCCTCCCCTTCCCTACACTTCCGTCCCCTCCCC TTCCCTACACTTCCCTTCCCTCCCCTCCCCTCCCTTTCCCTCCTCTTTCC CTCCCCCTCCCTTCCCATCCCCTTCCCTCCCTTCCCCTCCCCCCCACCCT CCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCCTTCCCTCCCTTCC CCTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCCTCCCCTCCCTTCC CA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0049 a0001c0001t0096g0049	1	10	0.1000	501	c.80+ others(518): Show c.80+30514_80+30515insCTCCCCCTTTCCCTCCTTTCCCCTCCCC TCCTTCCCCTTCCCCCTCCCCTCCCTTCTCCCCTCCCTCCCCTTCCCCTC CCCTCCTCTCCCCTCCCCTCCCCTCCCTCCTTCCCCTCTCCGTCTTCCCC TCCCCTCCCCTTCCCTCCCTTTCCACTCCCCTCCCTTCCCCTCCCCTCCC CTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCGCCCTTTT CTCCCTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTACA CTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTCCC TTTCCCTCCTCTTTCCCTCCCCCTCCCTTCCCATCCCCTTCCCTCCCTTC CCCTCCCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTC CCCTTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTC CCCTCCCCTCCCTTCCCATCCCC	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80281590	G G	GCCAACAC others(494): Show GCCAACACACACACCCCACTCACCCCACTCACACCCAACACACACACACA CCCCACTCACCCCCAACACACACACACCACTCACACCACTCACACACCCC CAACATACATATCCCACTCACCCCACTCACACACACCCAACACACACACA CACCCCACTCACCCCCAACACATACAAATCCCACTCACACCACTCACACA CACATACCCCACTCACACACACCCCAACACACACACCCCACTCACACACA TACCCCAACACACACACATATCCCACTCACACCACTCACCCCCAACATAC ACCCCACTCACCCCACTCACACACACCCAACACACACACACACCCCACTC ACCCCCAACACACACACATCCGACTCACACCACTCACACACCCCAACACA CATACCCCACTCACACACACACCCCAACACACACACACCCCTCTCATCCC ACTCACACATACCCAACACACACACAGCCCACTCACACGACTCACACACC CC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00609.hp2 others(20): Show HG00423.hp2 HG00558.hp1 HG00609.hp2 HG00639.hp1 HG01069.hp1 HG01106.hp1 HG01934.hp1 HG01952.hp2 HG02040.hp1 HG02132.hp2 HG02148.hp1 HG03831.hp1 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18952.hp1 NA18954.hp1 NA18957.hp1 NA18986.hp1 NA18986.hp2 NA18998.hp1 NA19060.hp1 NA19081.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0091	a0001c0001 a0001c0003 a0001c0004 others(10): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0029 a0001c0071 a0001c0072 a0002c0002 a0003c0005 a0003c0030 a0003c0077 a0006c0009 a0091c0043	a0001c0001t0001 a0001c0001t0019 a0001c0001t0028 others(18): Show a0001c0001t0001 a0001c0001t0019 a0001c0001t0028 a0001c0003t0001 a0001c0004t0002 a0001c0004t0006 a0001c0004t0010 a0001c0006t0010 a0001c0029t0006 a0001c0029t0010 a0001c0071t0001 a0001c0072t0001 a0002c0002t0007 a0002c0002t0008 a0003c0005t0006 a0003c0005t0061 a0003c0030t0006 a0003c0077t0022 a0006c0009t0007 a0006c0009t0008 a0091c0043t0002	a0001c0001t0001g0047 a0001c0001t0019g0046 a0001c0001t0028g0086 others(20): Show a0001c0001t0001g0047 a0001c0001t0019g0046 a0001c0001t0028g0086 a0001c0003t0001g0053 a0001c0004t0002g0045 a0001c0004t0002g0054 a0001c0004t0006g0039 a0001c0004t0010g0040 a0001c0006t0010g0043 a0001c0029t0006g0048 a0001c0029t0010g0049 a0001c0071t0001g0052 a0001c0072t0001g0038 a0002c0002t0007g0050 a0002c0002t0008g0041 a0003c0005t0006g0058 a0003c0005t0061g0044 a0003c0030t0006g0037 a0003c0030t0006g0042 a0003c0077t0022g0056 a0006c0009t0007g0051 a0006c0009t0008g0057 a0091c0043t0002g0055	23	194	0.1186	501	c.262 others(518): Show c.262-6213_262-6212insCCCCACTCACCCCACTCACACCCAACAC ACACACACACCCCACTCACCCCCAACACACACACACCACTCACACCACTC ACACACCCCCAACATACATATCCCACTCACCCCACTCACACACACCCAAC ACACACACACACCCCACTCACCCCCAACACATACAAATCCCACTCACACC ACTCACACACACATACCCCACTCACACACACCCCAACACACACACCCCAC TCACACACATACCCCAACACACACACATATCCCACTCACACCACTCACCC CCAACATACACCCCACTCACCCCACTCACACACACCCAACACACACACAC ACCCCACTCACCCCCAACACACACACATCCGACTCACACCACTCACACAC CCCAACACACATACCCCACTCACACACACACCCCAACACACACACACCCC TCTCATCCCACTCACACATACCCAACACACACACAGCCCACTCACACGAC TCACACACCCCCCAACACACACA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSPH1_chr21_42467486_42501224	42477225	C C	CCCCTCCA others(494): Show CCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCAC CCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC CGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGC CCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCC TCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCC TCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACTCCA CAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACTCCACAGCCCGGG GGTGCCCTACACCCTCTGACCCCTCCACCCCACAGCCCGGGGGTGCCCTA CACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTG CCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCA CT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01192.hp1 HG00741.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0091 a0001c0002t0001g0125 a0001c0002t0001g0091 a0001c0002t0001g0125	2	123	0.0163	501	c.727 others(514): Show c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGG GGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGGGTGGAGGG GTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGG TGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTAGGGCA CCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGC TGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTG GAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCA GAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTG GGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTAGGGCACCCC CGGGCTGTGGAGTGGAGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RTEL1_chr20_63653312_63701245	63693729	A A	ACCACCTC others(494): Show ACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCTCCACCTCCAC CACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCA CCTCCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCACC TCCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCTCCACCAC CACCACCTCCACCACCACCACCTCCACCTCCACCTCCACCTCCACCACCA CCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCC ACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCACCTC CACCTCCACCACCACCACCTCCACCACCTCCACCACCACCACCACCACCA CCACCACCTCCACCACCACCACCACCACCACCTCCACCACCTCCAACTCC ACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCTCCTCCAC CT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0005 a0001c0012t0002g0005	1	36	0.0278	501	c.299 others(518): Show c.2992+448_2992+449insACCTCCACCTCCACCACCACCACCTCCA CCTCCACCTCCACCTCCACCACCACCACCACCACCTCCACCACCACCACC TCCACCACCACCACCACCACCTCCACCTCCACCTCCACCACCACCACCTC CACCTCCACCACCACCACCTCCACCACCACCTCCACCACCACCACCTCCA CCTCCACCACCTCCACCACCACCACCTCCACCACCACCACCTCCACCTCC ACCTCCACCTCCACCACCACCACCACCACCTCCACCACCACCACCTCCAC CTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCA CCACCACCTCCACCACCTCCACCTCCACCACCACCACCTCCACCACCTCC ACCACCACCACCACCACCACCACCACCTCCACCACCACCACCACCACCAC CTCCACCACCTCCAACTCCACCACCTCCACCACCACCTCCACCACCACCT CCACCACCACCTCCTCCACCTCC	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
SCAMP1_chr5_78355617_78485739	78430203	T T	TTATAAAT others(494): Show TTATAAATACTGTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTAT TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	255	0.0039	501	c.632 others(518): Show c.632+8246_632+8247insAAATACTGTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATT TATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGT ATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAA ATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTA TTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACT GTATTTATTTATAAATACTGTAT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430203	T T	TTGTTTAT others(494): Show TTGTTTATAAATACTGTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TG	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA21309.hp1 HG02922.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0237 a0001c0001t0001g0208 a0001c0001t0001g0237	2	256	0.0078	501	c.632 others(518): Show c.632+8244_632+8245insGTTTATAAATACTGTATTTATAAATACT GTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTAT TTATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLAIN1_chr13_77692687_77769229	77703948	T T	TAAAATAT others(494): Show TAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAAAT ATATATACATATGTTTTATATGTGTATATATACACATATAAAATATATAT ACATATGTTTTATATGTGTATATATACACATATAAAATATATATACATAT GTTTTATATGTGTATATATACACATATAAAATATATATACATATGTTTTA TATGTATATATACATATAAAATATATATACATATGTTTTATATGTATATA TATACATATAAAATATATATACATATAAAATATATACATATAAAATATAT ATGTTTTATATGTATATATACATATAAAATATATATACATATGTTTTATA TGTATATATATACATATAAAACATATATACATATGTTTTATATGTGTATA TATACATAGAAAATATATATAATATATATACATATGTTTTATATGTATAT ATATACATAGAAAATATATATACATATGTTTTATATGTATATATATACAT AG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	158	0.0063	501	c.626 others(518): Show c.626+5437_626+5438insGTATATATACACATATAAAATATATATA CATATGTTTTATATGTGTATATATACACATATAAAATATATATACATATG TTTTATATGTGTATATATACACATATAAAATATATATACATATGTTTTAT ATGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTAT ATATACATATAAAATATATATACATATGTTTTATATGTATATATATACAT ATAAAATATATATACATATAAAATATATACATATAAAATATATATGTTTT ATATGTATATATACATATAAAATATATATACATATGTTTTATATGTATAT ATATACATATAAAACATATATACATATGTTTTATATGTGTATATATACAT AGAAAATATATATAATATATATACATATGTTTTATATGTATATATATACA TAGAAAATATATATACATATGTTTTATATGTATATATATACATAGAAAAT ATATATACATATGTTTTATATGT	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC1A2_chr11_35246205_35424558	35403936	G G	GGCAAAGG others(494): Show GGCAAAGGAGGAAACAGCTCAAAGGCAAAGGGGGAAAGTCTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTGGCCCAGGCTG GAGTACAGTGGTGCAATTTCAGCTCACTGCAACCTCCGCCTCCCGGGTTC AAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCCAGGACTACAGGTGCTC GCCACCATGCCCGGCTAATTTTTGTATTTTTGGTAGAGACGGGTTTCACT GTTGGCCAGGCGGGCCTGGAACTCCTGACCTCATGATCCGCCCACCTTGG CCTCCCAAAGTGCTGGGCTTACAGGCGTGAGCCATCGCGCCCGGCCGGGA AAGTTCCCTTTAAGCAAACATATGGACGCATGGATCAGTCCCTGCTCCGT GATCACGGCCGCCTCAGCTGCACAGAATCCTGATATTCCTGCTCCCGGCA AACAAGGGAACATCTTCCTCTTGCTGGCTTGCCTCAGCAGCTTAGCTCAA AA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00438.hp1 others(69): Show HG00099.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00738.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01175.hp1 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01993.hp1 HG01993.hp2 HG02080.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02293.hp2 HG02559.hp2 HG02615.hp2 HG02683.hp1 HG02809.hp2 HG02965.hp1 HG03540.hp1 HG03579.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18954.hp2 NA18960.hp2 NA18961.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18977.hp2 NA18978.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18988.hp1 NA18992.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19077.hp1 NA19081.hp1 NA19091.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0023 a0001c0001t0025 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0064 a0001c0001t0076 a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 a0001c0002t0011 a0001c0002t0012 a0001c0002t0053 a0001c0002t0055 a0001c0003t0016 a0001c0004t0051 a0001c0004t0080 a0001c0009t0005	a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0027 others(69): Show a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0002g0025 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0074 a0001c0001t0002g0078 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0101 a0001c0001t0003g0123 a0001c0001t0006g0113 a0001c0001t0009g0272 a0001c0001t0010g0226 a0001c0001t0010g0238 a0001c0001t0012g0052 a0001c0001t0012g0053 a0001c0001t0012g0054 a0001c0001t0012g0060 a0001c0001t0013g0276 a0001c0001t0017g0083 a0001c0001t0023g0239 a0001c0001t0023g0269 a0001c0001t0025g0102 a0001c0001t0039g0067 a0001c0001t0041g0085 a0001c0001t0042g0010 a0001c0001t0043g0058 a0001c0001t0045g0073 a0001c0001t0046g0070 a0001c0001t0047g0022 a0001c0001t0064g0114 a0001c0001t0076g0218 a0001c0002t0001g0005 a0001c0002t0001g0009 a0001c0002t0001g0011 a0001c0002t0001g0020 a0001c0002t0001g0050 a0001c0002t0001g0069 a0001c0002t0001g0082 a0001c0002t0005g0003 a0001c0002t0005g0006 a0001c0002t0005g0016 a0001c0002t0005g0018 a0001c0002t0005g0023 a0001c0002t0005g0051 a0001c0002t0005g0055 a0001c0002t0005g0057 a0001c0002t0005g0064 a0001c0002t0005g0079 a0001c0002t0008g0122 a0001c0002t0011g0243 a0001c0002t0012g0013 a0001c0002t0053g0061 a0001c0002t0055g0081 a0001c0003t0016g0089 a0001c0004t0051g0080 a0001c0004t0080g0217 a0001c0009t0005g0071	72	208	0.3462	501	c.17+ others(518): Show c.17+15013_17+15014insTTTTGAGCTAAGCTGCTGAGGCAAGCCA GCAAGAGGAAGATGTTCCCTTGTTTGCCGGGAGCAGGAATATCAGGATTC TGTGCAGCTGAGGCGGCCGTGATCACGGAGCAGGGACTGATCCATGCGTC CATATGTTTGCTTAAAGGGAACTTTCCCGGCCGGGCGCGATGGCTCACGC CTGTAAGCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCATGAGGTCAG GAGTTCCAGGCCCGCCTGGCCAACAGTGAAACCCGTCTCTACCAAAAATA CAAAAATTAGCCGGGCATGGTGGCGAGCACCTGTAGTCCTGGCTACTTGG GAGGCTGAGGCAAGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTG AGCTGAAATTGCACCACTGTACTCCAGCCTGGGCCACAGAGTGAGACTCT GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACTTTCCCCCTTTGC CTTTGAGCTGTTTCCTCCTTTGC	SLC1A2	ENSG00000110436.13	transcript	ENST00000278379.9	protein_coding	1/10			chr11	TogoVar
SLC1A2_chr11_35246205_35424558	35403936	G G	GGCAAAGG others(494): Show GGCAAAGGAGGAAACAGCTCAAAGGCAAAGGGGGAAAGTCTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTGGCCCAGGCTG GAGTACAGTGGTGCAATTTCAGCTCACTGCAACCTCCGCCTCCCGGGTTC AAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCCAGGACTACAGGTGCTC GCCACCATGCCCGGCTAATTTTTGTATTTTTGGTAGAGACGGGTTTCACT GTTGGCCAGGCGGGCCTGGAACTCCTGACCTCATGATCTGCCCACCTTGG CCTCCCAAAGTGCTGGGCTTACAGGCGTGAGCCATCGCGCCCGGCCGGGA AAGTTCCCTTTAAGCAAACATATGGACGCATGGATCAGTCCCTGCTCCGT GATCACGGCCGCCTCAGCTGCACAGAATCCTGATATTCCTGCTCCCGGCA AACAAGGGAACATCTTCCTCTTGCTGGCTTGCCTCAGCAGCTTAGCTCAA AA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02922.hp2 HG02886.hp1 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0014 a0001c0004t0031 a0001c0003t0014 a0001c0004t0031	a0001c0003t0014g0281 a0001c0004t0031g0287 a0001c0003t0014g0281 a0001c0004t0031g0287	2	138	0.0145	501	c.17+ others(518): Show c.17+15013_17+15014insTTTTGAGCTAAGCTGCTGAGGCAAGCCA GCAAGAGGAAGATGTTCCCTTGTTTGCCGGGAGCAGGAATATCAGGATTC TGTGCAGCTGAGGCGGCCGTGATCACGGAGCAGGGACTGATCCATGCGTC CATATGTTTGCTTAAAGGGAACTTTCCCGGCCGGGCGCGATGGCTCACGC CTGTAAGCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGGTCAG GAGTTCCAGGCCCGCCTGGCCAACAGTGAAACCCGTCTCTACCAAAAATA CAAAAATTAGCCGGGCATGGTGGCGAGCACCTGTAGTCCTGGCTACTTGG GAGGCTGAGGCAAGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTG AGCTGAAATTGCACCACTGTACTCCAGCCTGGGCCACAGAGTGAGACTCT GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACTTTCCCCCTTTGC CTTTGAGCTGTTTCCTCCTTTGC	SLC1A2	ENSG00000110436.13	transcript	ENST00000278379.9	protein_coding	1/10			chr11	TogoVar
SLC37A3_chr7_140328752_140403530	140387779	A A	AATATAAA others(494): Show AATATAAATATATTATATATATTATATATAATATAAATATATTATATATA TTATATATAATATAAATATATTATATATATTATATATAATATAAATATAT TATATATATTATACATAAATATAAATATATTATATATATTATACATAAAT ATAAATATATTATATATATTATACATAAATATAAATATATTATATATATT ATACATAAATATAAATATATTATATATATTATATATAATATAAATATATT ATATATATTATATATAATATAAATATATTATATATATTATATATAAATAT AAATATATTATATATATTATATATAAATATAAATATATTATATATTATAT AAATATAAATATATTATATATTATATATAATATAAATATATTATATATAT TATATATAATATAAATATATTAATATATTATATATATTATATATAATATA AATATATTATATATATTATATATAATATAAATATATTATATATATTATAT AT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	280	0.0036	501	c.-70 others(518): Show c.-70-5184_-70-5183insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATAATATATTTATATTTATATAATATATAATATATTTATATTT ATATATAATATATATAATATATTTATATTTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTTATGTATAATATATATAATATATTTATATTTAT GTATAATATATATAATATATTTATATTTATGTATAATATATATAATATAT TTATATTTATGTATAATATATATAATATATTTATATTATATATAATATAT ATAATATATTTATATTATATATAATATATATAATATATTTATATTATATA TAATATATATAATATATTTATAT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SNX9_chr6_157818246_157950077	157827031	T T	TATATATT others(494): Show TATATATTATAGTTTATATATAAACATATATTATAGTTTATATATAAACA TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTT ATATAATATATAAACATATATTATAGTTTATATAATATATAAACATATAT TATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAA ACATATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAAC ATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA AA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	160	0.0063	501	c.12+ others(516): Show c.12+3604_12+3605insTAAACATATATTATAGTTTATATATAAACA TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTT ATATAATATATAAACATATATTATAGTTTATATAATATATAAACATATAT TATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAA ACATATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAAC ATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA AAATATATTATAGTTTATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827116	C C	AACATATA others(494): Show AACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACAT ATATTATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAA CATATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACA TATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATAC ACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATA ATATATACACATATATTATAGTTTATATAATATATACACATATATTATAG TTTATATAATATATACACATATATTATAGTTTATATAATATATAAAATAT ATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATAT AC	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	47	0.0213	501	c.12+ others(516): Show c.12+3669_12+3670insAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATA TAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACATATA GTTTATATAATATATAAACATATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAA TATATACACATATATTATAGTTTATATAATATATACACATATATTATAGT TTATATAATATATAAAATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
SNX9_chr6_157818246_157950077	157827277	T T	TATATAAT others(494): Show TATATAATATATAAACATATAGTTTATATAATATATAAACATATAGTTTA TATAATATATAAACATATAGTTTATATAATATATAAACATATAGTTTATA TAATATATAAACATATATTATAGTTTATATAATATATACACATATATTAT AGTTTATATAATATATACACATATATTATAGTTTATATAATATATACACA TATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATA TATACACATATATTATAGTTTATATAATATATAAAATATATTATAGTTTA TATAATATATACATATATATTATAGTTTATATAATATATAAACATATATT ATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAA CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTCATATAATATATAAACATATATTATAGT TC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	300	0.0033	501	c.12+ others(516): Show c.12+3851_12+3852insGTTTATATAATATATAAACATATAGTTTAT ATAATATATAAACATATAGTTTATATAATATATAAACATATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATACACATATATTATA GTTTATATAATATATACACATATATTATAGTTTATATAATATATACACAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATAAAATATATTATAGTTTAT ATAATATATACATATATATTATAGTTTATATAATATATAAACATATATTA TAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAAC ATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAAT ATATAAACATATATTATAGTTCATATAATATATAAACATATATTATAGTT CATATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(494): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGGG AGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGA GGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGG GGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGG GAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAG GGGGAAGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAAGGGGGA GGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAAGCGG GG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	12	0.0833	501	c.34 others(510): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCC TTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCC TCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCC CCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCC TCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCT CCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCC CCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCCTCCCC CTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPOCK3_chr4_166728384_167239494	167109065	T T	TATACTTA others(494): Show TATACTTATATAAAAATATATATAAATATATACTTATATAAAAATATATA TAAATATATACTTATATAAAAATATATATAAATATATACTTATATAAAAA TATATATAAATATATACTTATATAAAAATATATATAAATATATATTTATA TAAAAATATATATAAATATATATTTATATAAAAATATATATAAATATATA TTTATATAAAAATATATATAAATATATATTTATATAAAAATATATATAAA TATATATTTATATAAAAATATATATAAATATATATTTATATAAAAATATA TATAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAA AATATATATAAATATATATTTATATAAAAATATATATAAATATATATTTA TATAAAAATATATATAAATATATATTTATATAAAAATATATATAAATATA TATTTATATAAAAATATATATAAATATATATTTATATAAAAATATATATA AA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0112 a0001c0001t0008g0112	1	44	0.0227	501	c.190 others(520): Show c.190-46529_190-46528insTTTATATATATTTTTATATAAATATA TATTTATATATATTTTTATATAAATATATATTTATATATATTTTTATATA AATATATATTTATATATATTTTTATATAAATATATATTTATATATATTTT TATATAAATATATATTTATATATATTTTTATATAAATATATATTTATATA TATTTTTATATAAATATATATTTATATATATTTTTATATAAATATATATT TATATATATTTTTATATAAATATATATTTATATATATTTTTATATAAATA TATATTTATATATATTTTTATATAAATATATATTTATATATATTTTTATA TAAATATATATTTATATATATTTTTATATAAATATATATTTATATATATT TTTATATAAGTATATATTTATATATATTTTTATATAAGTATATATTTATA TATATTTTTATATAAGTATATATTTATATATATTTTTATATAAGTATATA TTTATATATATTTTTATATAAGTAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SUFU_chr10_102498972_102638535	102637473	T T	TATTATAT others(494): Show TATTATATATTATATAACTATATATTATATATATTATATATTATATAACA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATAATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATAATATATATATTATATATAATATAACTATATATTA TATATAATATATAATTATATATTATATAACTATATATTATATATAATATA TA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	149	0.0067	501	c.73 others(512): Show c.7318_*7319insATTATATATTATATAACTATATATTATATATATT ATATATTATATAACATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATAA TATAACTATATATTATATATAATATATAATTATATATTATATAACTATAT ATTATATATAATATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3939		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637474	A A	ATTATATA others(494): Show ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATAACTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATAATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATTATATATTATATAACT ATATATTATATATAATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATAATATAACTATATATTATATATAATATAT AG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0249 a0001c0001t0013g0249	1	228	0.0044	501	c.73 others(512): Show c.7319_*7320insTTATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATAACTATATATTATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATATT ATATATTATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATAATATAACTATATA TTATATATAATATATAG	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3940		chr10	TogoVar
SYK_chr9_90796819_90903549	90884833	G G	GTATGCAC others(494): Show GTATGCACATATACACATATGTGTGTATGCACATATACACATATATACAC ATATGTGTACATATGTGTATATATACATATATATACACATATATATGTAT ATATACACATATGTGTATATGTATATATGTATATATACACATATGTGTAT ATATGTATATATACATATACACATATATGTATATATACATAGGTGTATAT ATGTGTTATATATACACATAGGTGTATATATGTGTTATATATACACATAG GTGTATATATGTGTTATATATACACATAGGTGTATATATGTGTTATATAT ACACATATGTGTATATGTATATATGTATATACACATATGTGTATATGTAT ATATGTATATATACACATATGTGTATATATGTATATATACATATACACAT ATGTGTATATATAACACATATATACATATTCACATATGTGTATATATAAC ACATATGTGAATATGTATATATGTGTTATATATACACATATGTGTATATG TA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0134 a0001c0001t0006g0134	1	278	0.0036	501	c.158 others(520): Show c.1582-2913_1582-2912insGCACATATACACATATGTGTGTATGC ACATATACACATATATACACATATGTGTACATATGTGTATATATACATAT ATATACACATATATATGTATATATACACATATGTGTATATGTATATATGT ATATATACACATATGTGTATATATGTATATATACATATACACATATATGT ATATATACATAGGTGTATATATGTGTTATATATACACATAGGTGTATATA TGTGTTATATATACACATAGGTGTATATATGTGTTATATATACACATAGG TGTATATATGTGTTATATATACACATATGTGTATATGTATATATGTATAT ACACATATGTGTATATGTATATATGTATATATACACATATGTGTATATAT GTATATATACATATACACATATGTGTATATATAACACATATATACATATT CACATATGTGTATATATAACACATATGTGAATATGTATATATGTGTTATA TATACACATATGTGTATATGTATAT	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TAFA5_chr22_48484553_48756932	48620601	A A	ACCCATCC others(494): Show ACCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCAC CATCCACCATCCTATCCACCCACCCACCATCCACCATCCATCCACCACCC CCACATCCATCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCC ACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCC ACCCACCATCCACCATCCATCCACCACCCCCACATCCATCCTATCTACTC ACCCCCATACCCATCCTATCCACCCACCCACCATCCCCCATCGTATCCAC CCACCCACCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTAT CCACCCCCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATC CTATCCACCCCCCCACCATCTCCCATCCTATCCACCCACCCACCATCCCC CATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCCCCCACCAT CC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	117	0.0085	501	c.113 others(520): Show c.113-25935_113-25934insTATCCACCCACCCACCATCCACCATC CATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCCT ATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCA TCCTATCCACCCACCCACCATCCACCATCCATCCACCACCCCCACATCCA TCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCCACCATCCCC CATCGTATCCACCCACCCACCATCCCCCATCCTATCTACCCCCCCACCAT CCCCCATCCTATCCACCCCCCCACCATCCCCCATCCTATCCACCCACCCA CCATCCCCCATCCTATCCACCCCCCCACCATCTCCCATCCTATCCACCCA CCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCA CCCCCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTA TCCACCCACCCACCATCCACCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar

Search by Variant

Search

Search Results