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
IPO11_chr5_62407763_62633582	62561275	T T	TAAAATTT others(313): Show TAAAATTTGTTTCTTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03579.hp1 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0178 a0001c0002t0001g0179	2	330	0.0061	320	c.258 others(335): Show c.2582+34_2582+35insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAATTTGTTTCTTTC	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	27/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQCH_chr15_67249786_67506804	67293594	T T	TAAAAAAT others(313): Show TAAAAAATATTTCGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA20300.hp2 HG03540.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0085 a0001c0001t0001g0086	2	276	0.0073	320	c.387 others(339): Show c.387+14096_387+14097insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATTTCGA	IQCH	ENSG00000103599.20	transcript	ENST00000335894.9	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(313): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACTACCCTGTC CTCCTCCCCCACCCCCCCTCCCCCCCTCCTCCCCCTCCCCCCTCCTCCCC CCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCC TCCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCC CACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCC CCCCTCCTCTCCCCCCCCTCCTCCCCCCCTCCTCCTCCTCCTGCTCTCCC CCTCCTCCTCCCCATTCTGCT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	252	0.0040	320	c.10- others(337): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACTACCCTGTCCTCCTCCCCCACCCCCCCTCCCCCCCTCCTCCCCCT CCCCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTC CCACCTCCTCCTCCTCCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCC TCCTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCC CCTCCTCCTCTCCCCCCCTCCTCTCCCCCCCCTCCTCCCCCCCTCCTCCT CCTCCTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(313): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACTACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCC ACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCC CCCCTCCTCTCCCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCC CCTCCTCCTCCCCATTCTGCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0173 a0003c0004t0001g0173	1	252	0.0040	320	c.10- others(337): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACTACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCT CCTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCC CTCCTCCTCTCCCCCCCCTCCTCTCCCCCCCCCTCCTCCCCCCTCCTCCT CCTCCTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(313): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACTACCCTGTC CTCCTCCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCC CACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCT CCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCC ACCTCCTCCTCCTCCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCC CCCCTCCTCTCCCCCCCCTCCTCCCCCCCTCCTCCTCCTCCTGCTCTCCC CCTCCTCCTCCCCATTCTGCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	252	0.0040	320	c.10- others(337): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACTACCCTGTCCTCCTCCCCCCACCCCCCTCCCCCCTCCTCCCCCTC CCCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCC CACCTCCTCCTCCTCCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCT CCTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCCTCCTCGTCCTCCTCCC CCTCCTCCTCTCCCCCCCTCCTCTCCCCCCCCTCCTCCCCCCCTCCTCCT CCTCCTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(313): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGT GGAATTCGGTGGGGAGGCAGGGCTCAGGGGGGGGGGCGGGGCTCGGGAGG GGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCT CTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGG CGGGGCTCGGGGGGAGGCGGG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0031 a0001c0004t0004g0031	1	282	0.0036	320	c.623 others(337): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCAGGG CTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCG GGGCTCAGGAGGGAGAGGTGGAATTCGGTGGGGAGGCAGGGCTCAGGGGG GGGGGCGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCT CTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGG CGGGGCTCTGGAGGGGAGGCGGGGCTCGGGGGGAGGCGGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	163211	C C	CCCCTCCA others(313): Show CCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGA CCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCC TCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCC TCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCA CAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCC CTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGA ACCGGACCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03098.hp1 HG02886.hp2 HG03098.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0013 a0002c0001t0005 a0002c0001t0013	a0002c0001t0005g0014 a0002c0001t0013g0011 a0002c0001t0005g0014 a0002c0001t0013g0011	2	282	0.0071	320	c.258 others(337): Show c.2584-159_2584-158insCCCTCCCTCCACAGAACCGGACCCCTCC CCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAG AACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTC CCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACC GGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCT CCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAC CCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTC	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAG1_chr11_10568095_10698755	10615935	T T	TAAAAAAA others(313): Show TAAAAAAAAGTAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTG CGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0094 a0001c0002t0002g0094	1	278	0.0036	320	c.144 others(339): Show c.1448-6085_1448-6084insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTACTTTTTTTT	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	10/20			chr11	TogoVar
IREB2_chr15_78433216_78506453	78455012	A A	AGAGAATA others(313): Show AGAGAATAGTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG TGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0119 a0001c0001t0034g0119	1	420	0.0024	320	c.107 others(337): Show c.107-7897_107-7896insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGTGTGAGCCACCGCGCCCGGCCGAGAATAGTTCTT	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
ITGA3_chr17_50051110_50095481	50086190	T T	TTATATAT others(313): Show TTATATATATTATACATGTATAATATATATATTAGATTATATATATTATA CATGTATAATATATATATTAGATTATATATATTATACATGTATAATATAT ATATTAGATTATATATATTATACATGTATAATATATATATTAGATTATAT ATATTATACATGTATAATATATATTAGATTATATATATTATACATGTATA ATATATATTAGATTATATATATTATACATGTATAATATATATATTAGATT ATATATATTATACATGTATAATATATATTAGATTATATATATTATACATG TATAATATATATATTAGATTA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0342 a0001c0001t0002g0342	1	402	0.0025	320	c.292 others(339): Show c.2920-1547_2920-1546insATTATACATGTATAATATATATATTA GATTATATATATTATACATGTATAATATATATATTAGATTATATATATTA TACATGTATAATATATATATTAGATTATATATATTATACATGTATAATAT ATATATTAGATTATATATATTATACATGTATAATATATATTAGATTATAT ATATTATACATGTATAATATATATTAGATTATATATATTATACATGTATA ATATATATATTAGATTATATATATTATACATGTATAATATATATTAGATT ATATATATTATACATGTATAATATATATATTAGATTATATATAT	ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25		INFO_REALIGN_3_PRIME	chr17	TogoVar
ITGA3_chr17_50051110_50095481	50086223	A A	ATTATATA others(313): Show ATTATATATATTATACATGTATAATATATATATTAGATTATATATATTAT ACATGTATAATATATATATTAGATTATATATATTATACATGTATAATATA TATATTAGATTATATATATTATACATGTATAATATATATATTAGATTATA TATATTATACATGTATAATATATATTAGATTATATATATTATACATGTAT AATATATATATTAGATTATATATATTATACATGTATAATATATATTAGAT TATATATATTATACATGTATAATATATATATTAGGTTATATATATTATAC ATGTATAATATATATATTAGG	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0348 a0001c0001t0002g0348	1	402	0.0025	320	c.292 others(339): Show c.2920-1439_2920-1438insTATACATGTATAATATATATATTAGA TTATATATATTATACATGTATAATATATATATTAGATTATATATATTATA CATGTATAATATATATTAGATTATATATATTATACATGTATAATATATAT ATTAGATTATATATATTATACATGTATAATATATATTAGATTATATATAT TATACATGTATAATATATATATTAGGTTATATATATTATACATGTATAAT ATATATATTAGGTTATATATATTATACATGTATAATATATATATTAGATT ATATATATTATACATGTATAATATATATATTAGATTATATATAT	ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25		INFO_REALIGN_3_PRIME	chr17	TogoVar
ITGA6_chr2_172422586_172511459	172451994	T T	TCCTCCCT others(313): Show TCCTCCCTTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0268 a0002c0005t0003g0268	1	352	0.0028	320	c.183 others(339): Show c.183-13530_183-13529insTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCCTCCCTTCATTTTT	ITGA6	ENSG00000091409.16	transcript	ENST00000442250.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGA9_chr3_37447141_37828507	37562940	T T	TAAAACCA others(313): Show TAAAACCATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0061 a0002c0002t0002g0061	1	168	0.0060	320	c.168 others(341): Show c.1689+20364_1689+20365insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCATA	ITGA9	ENSG00000144668.12	transcript	ENST00000264741.10	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITGA9_chr3_37447141_37828507	37708926	T T	TAAGAGTA others(313): Show TAAGAGTAGGGTTTTGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0161 a0001c0003t0004g0161	1	168	0.0060	320	c.206 others(341): Show c.2068-23769_2068-23768insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAGTAGGGTTTTGTC	ITGA9	ENSG00000144668.12	transcript	ENST00000264741.10	protein_coding	18/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124109765	T T	TATATACA others(313): Show TATATACATGACATATATATCATACTTTGATATATACATGACATATATAT CATACTTTGATATATACATGACATATATATCATACTTTGATATATACATG ACATATATGTCATACTTTGATATATACATGACATATATGTCATACTTTGA TATATACATGACATATATGTCATACTTTGATATATACATGACATATATGT CATACTTTGATATATACATGACATATATGTCATACTTTGATATATACATG ACATATATGTCATACTTTGATATATATGACATATGTCATACTTTGATATA TATGACATATGTCATACTTTG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0040 a0001c0024t0001g0040	1	116	0.0086	320	c.73+ others(337): Show c.73+75957_73+75958insCATGACATATATATCATACTTTGATATA TACATGACATATATATCATACTTTGATATATACATGACATATATATCATA CTTTGATATATACATGACATATATGTCATACTTTGATATATACATGACAT ATATGTCATACTTTGATATATACATGACATATATGTCATACTTTGATATA TACATGACATATATGTCATACTTTGATATATACATGACATATATGTCATA CTTTGATATATACATGACATATATGTCATACTTTGATATATATGACATAT GTCATACTTTGATATATATGACATATGTCATACTTTGATATA	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124687658	A A	ACCATATG others(313): Show ACCATATGGAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC TTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp2 HG01175.hp1 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0024 a0001c0010t0002 a0001c0002t0024 a0001c0010t0002	a0001c0002t0024g0006 a0001c0010t0002g0050 a0001c0002t0024g0006 a0001c0010t0002g0050	2	116	0.0172	320	c.737 others(339): Show c.7378-6129_7378-6128insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCCATATGGAATTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	51/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KANK3_chr19_8317584_8348262	8325911	C C	CTGCCTCC others(313): Show CTGCCTCCCAGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAG TGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCGC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTA GCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTC CCAAAGTGCTGGGATTACAGG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03540.hp2 NA19240.hp1 HG03139.hp2 HG03540.hp2 NA19240.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0220 a0001c0012t0001g0221 a0001c0012t0001g0235 a0001c0012t0001g0220 a0001c0012t0001g0221 a0001c0012t0001g0235	3	406	0.0074	320	c.193 others(337): Show c.1937-816_1937-815insCCTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG GTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGG CGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGT CCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCTGGGAGGCA	KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding	7/10			chr19	TogoVar
KCND2_chr7_120268175_120755337	120280695	T T	TAAGAATT others(313): Show TAAGAATTGTGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAAATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02897.hp2 HG03098.hp1 others(1): Show HG02109.hp1 HG02897.hp2 HG03098.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0027 a0001c0001t0007 a0001c0001t0027	a0001c0001t0007g0038 a0001c0001t0007g0039 a0001c0001t0007g0040 others(1): Show a0001c0001t0007g0038 a0001c0001t0007g0039 a0001c0001t0007g0040 a0001c0001t0027g0037	4	80	0.0500	320	c.111 others(339): Show c.1115+4961_1115+4962insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAAATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTGTGG	KCND2	ENSG00000184408.10	transcript	ENST00000331113.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
KCNH7_chr2_162366407_162843767	162822107	A A	AAAATTTT others(313): Show AAAATTTTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02027.hp2 HG02965.hp1 others(1): Show HG00639.hp1 HG02027.hp2 HG02965.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009	4	100	0.0400	320	c.307 others(339): Show c.307+14429_307+14430insGGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCCGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTAAAATTT	KCNH7	ENSG00000184611.14	transcript	ENST00000332142.10	protein_coding	2/15			chr2	TogoVar
KCNJ6_chr21_37602373_37921457	37685517	T T	TAAAAATA others(313): Show TAAAAATACAAAAAATTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGCCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00408.hp1 others(36): Show HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00673.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01256.hp1 HG01258.hp1 HG01358.hp2 HG01433.hp1 HG02040.hp1 HG02071.hp1 HG02083.hp1 HG02129.hp1 HG02738.hp1 HG03471.hp1 HG03540.hp2 HG03654.hp2 HG04115.hp1 HG04204.hp1 HG06807.hp1 NA18612.hp1 NA18983.hp1 NA18983.hp2 NA19001.hp2 NA19011.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp2 NA19064.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0018 a0001c0001t0024 others(35): Show a0001c0001t0002 a0001c0001t0018 a0001c0001t0024 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0058 a0001c0001t0068 a0001c0001t0070 a0001c0001t0080 a0001c0001t0091 a0001c0001t0092 a0001c0001t0099 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0119 a0001c0001t0136 a0001c0003t0111 a0001c0003t0115	a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0018g0104 others(36): Show a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0018g0104 a0001c0001t0024g0083 a0001c0001t0029g0075 a0001c0001t0032g0110 a0001c0001t0033g0119 a0001c0001t0034g0120 a0001c0001t0035g0160 a0001c0001t0037g0041 a0001c0001t0039g0021 a0001c0001t0040g0086 a0001c0001t0041g0072 a0001c0001t0042g0108 a0001c0001t0043g0170 a0001c0001t0044g0156 a0001c0001t0046g0133 a0001c0001t0047g0179 a0001c0001t0049g0030 a0001c0001t0050g0018 a0001c0001t0052g0173 a0001c0001t0054g0123 a0001c0001t0055g0117 a0001c0001t0056g0047 a0001c0001t0058g0103 a0001c0001t0068g0152 a0001c0001t0070g0059 a0001c0001t0080g0076 a0001c0001t0091g0168 a0001c0001t0092g0050 a0001c0001t0099g0051 a0001c0001t0106g0092 a0001c0001t0107g0087 a0001c0001t0108g0062 a0001c0001t0109g0109 a0001c0001t0119g0191 a0001c0001t0136g0046 a0001c0003t0111g0077 a0001c0003t0115g0111	39	198	0.1970	320	c.946 others(339): Show c.946+28693_946+28694insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGGCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTAATTTTTTGTATTTTT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNJ9_chr1_160076538_160095563	160077875	A A	AGGCCACA others(313): Show AGGCCACAGTAGGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCGGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0032 a0001c0001t0009g0032	1	430	0.0023	320	c.-39 others(331): Show c.-3937_-3936insGGCCACAGTAGGCTCTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCGGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC	KCNJ9	ENSG00000162728.5	transcript	ENST00000368088.4	protein_coding		3662		chr1	TogoVar
KCNJ9_chr1_160076538_160095563	160077875	A A	AGGCCACA others(313): Show AGGCCACAGTAGGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCGGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG00733.hp1 others(89): Show HG00609.hp1 HG00621.hp1 HG00733.hp1 HG01099.hp1 HG01192.hp1 HG01192.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01884.hp2 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02630.hp2 HG02647.hp2 HG03195.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18949.hp2 NA18953.hp2 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18985.hp1 NA18985.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19011.hp2 NA19055.hp1 NA19063.hp1 NA19064.hp2 NA19068.hp2 NA19076.hp1 NA19076.hp2 NA19080.hp2 NA19083.hp2 NA19088.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0001t0026 a0001c0001t0028 a0001c0001t0032 a0002c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0039 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0004 a0001c0001t0006g0001 a0001c0001t0006g0034 a0001c0001t0007g0001 a0001c0001t0009g0002 a0001c0001t0010g0004 a0001c0001t0011g0001 a0001c0001t0014g0001 a0001c0001t0017g0001 a0001c0001t0026g0002 a0001c0001t0028g0002 a0001c0001t0032g0002 a0002c0002t0002g0009	92	430	0.2140	320	c.-39 others(331): Show c.-3937_-3936insGGCCACAGTAGGCTCTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCGGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC	KCNJ9	ENSG00000162728.5	transcript	ENST00000368088.4	protein_coding		3662		chr1	TogoVar
KCNJ9_chr1_160076538_160095563	160077875	A A	AGGCCACA others(313): Show AGGCCACAGTAGGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCGGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	430	0.0023	320	c.-39 others(331): Show c.-3937_-3936insGGCCACAGTAGGCTCTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCGGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCT	KCNJ9	ENSG00000162728.5	transcript	ENST00000368088.4	protein_coding		3662		chr1	TogoVar
KCNK9_chr8_139612121_139708123	139687464	A A	ATATATGT others(313): Show ATATATGTGTACACATATATATTCATATATATGTGTACACATATATATTC ATATATATGTGTACACATATATATTCATATATATGTGTACACATATATAT TCATATATATGTGTACACATATATATTCATATATATGTGTACACATATAT ATTCATATATATGTGTACACATATATATTCATATATATGTGTACACATAT ATATTCATATATATGTGTATACATATATATTCATATATATGTGTATACAT ATATATTCATATATATGTGTATACATATATATTCATATATATGTGTATAC ATATATATTCATATATATGTG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	322	0.0031	320	c.283 others(339): Show c.283+15245_283+15246insCACATATATATGAATATATATGTATA CACATATATATGAATATATATGTATACACATATATATGAATATATATGTA TACACATATATATGAATATATATGTATACACATATATATGAATATATATG TGTACACATATATATGAATATATATGTGTACACATATATATGAATATATA TGTGTACACATATATATGAATATATATGTGTACACATATATATGAATATA TATGTGTACACATATATATGAATATATATGTGTACACATATATATGAATA TATATGTGTACACATATATATGAATATATATGTGTACACATATA	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KCNK9_chr8_139612121_139708123	139687464	A A	ATATATGT others(313): Show ATATATGTGTACACATATATATTCATATATATGTGTACACATATATATTC ATATATATGTGTACACATATATATTCATATATATGTGTACACATATATAT TCATATATATGTGTACACATATATATTCATATATATGTGTACACATATAT ATTCATATATATGTGTACACATATATATTCATATATATGTGTATACATAT ATATTCATATATATGTGTATACATATATATTCATATATATGTGTATACAT ATATATTCATATATATGTGTATACATATATATTCATATATATGTGTATAC ATATATATTCATATATATGTG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0270 a0001c0002t0001g0270	1	322	0.0031	320	c.283 others(339): Show c.283+15245_283+15246insCACATATATATGAATATATATGTATA CACATATATATGAATATATATGTATACACATATATATGAATATATATGTA TACACATATATATGAATATATATGTATACACATATATATGAATATATATG TATACACATATATATGAATATATATGTGTACACATATATATGAATATATA TGTGTACACATATATATGAATATATATGTGTACACATATATATGAATATA TATGTGTACACATATATATGAATATATATGTGTACACATATATATGAATA TATATGTGTACACATATATATGAATATATATGTGTACACATATA	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KCNK9_chr8_139612121_139708123	139687464	A A	ATATATGT others(313): Show ATATATGTGTATACATATATATTCATATATATGTGTATACATATATATTC ATATATATGTGTATACATATATATTCATATATATGTGTATACATATATAT TCATATATATGTGTATACATATATATTCATATATATGTGTATACATATAT ATTCATATATATGTGTATACATATATATTCATATATATGTGTATACATAT ATATTCATATATATGTGTATACATATATATTCATATATATGTGTATACAT ATATATTCATATATATGTGTATACATATATATTCATATATATGTGTATAC ATATATATTCATATATATGTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	322	0.0031	320	c.283 others(339): Show c.283+15245_283+15246insCACATATATATGAATATATATGTATA CACATATATATGAATATATATGTATACACATATATATGAATATATATGTA TACACATATATATGAATATATATGTATACACATATATATGAATATATATG TATACACATATATATGAATATATATGTATACACATATATATGAATATATA TGTATACACATATATATGAATATATATGTATACACATATATATGAATATA TATGTATACACATATATATGAATATATATGTATACACATATATATGAATA TATATGTATACACATATATATGAATATATATGTATACACATATA	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KCNT2_chr1_196220779_196613440	196437080	T T	TATAAATA others(313): Show TATAAATATATATTTATATACATAAATATATTTATATATAAATATATATT TTTATATATATTTATGTATATATTTATATATTTATATATATTTATATATA TACATAAATATATATTTATATATATTTATATATATACATAAATATATATT TATATATAAATATATATTTATATATTTATATATTTATATACATAAATATA TATTTATATATATTTATATATATTTATATACATAAATATATATTTATATA TATTTATATACATAAATATATATTTATATATATTTATATACATAAATATA TATTTATATATATTTATATAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02572.hp1 HG02717.hp1 others(9): Show HG01109.hp2 HG02572.hp1 HG02717.hp1 HG02818.hp2 HG02886.hp1 HG02897.hp2 HG03139.hp2 HG03471.hp2 HG03516.hp1 HG03579.hp2 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 others(9): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0010g0097	12	136	0.0882	320	c.639 others(337): Show c.639-7324_639-7323insGTATATAAATATATATAAATATATATTT ATGTATATAAATATATATAAATATATATTTATGTATATAAATATATATAA ATATATATTTATGTATATAAATATATATAAATATATATAAATATATATTT ATGTATATAAATATATAAATATATAAATATATATTTATATATAAATATAT ATTTATGTATATATATAAATATATATAAATATATATTTATGTATATATAT AAATATATATAAATATATAAATATATACATAAATATATATAAAAATATAT ATTTATATATAAATATATTTATGTATATAAATATATATTTAT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	8/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196437094	T T	TATATACA others(313): Show TATATACATAAATATATTTATATATAAATATATATTTTTATATATATTTA TGTATATATTTATATATAAATATATATTTATATATTTATATATATTTATA TATATACATAAATATATATTTATATATATTTATATATATACATAAATATA TATTTATATATATTTATATACAAATATATATTTATATATTTATATATATT TATGTATATTTATATACATAAATATATATTTATATATATTTATATATATT TATATACATAAATATATATTTATATATATTTATATACATAAATATATATT TATATATATTTATATACATAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show HG02109.hp1 HG02145.hp1 HG02622.hp1 HG03139.hp1 HG03209.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 others(3): Show a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126	6	136	0.0441	320	c.639 others(337): Show c.639-7338_639-7337insTTATGTATATAAATATATATAAATATAT ATTTATGTATATAAATATATATAAATATATATTTATGTATATAAATATAT ATAAATATATATAAATATATATTTATGTATATAAATATACATAAATATAT ATAAATATATAAATATATATTTGTATATAAATATATATAAATATATATTT ATGTATATATATAAATATATATAAATATATATTTATGTATATATATAAAT ATATATAAATATATAAATATATATTTATATATAAATATATACATAAATAT ATATAAAAATATATATTTATATATAAATATATTTATGTATAT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	8/27			chr1	TogoVar
KDM4C_chr9_6752973_7180648	7035316	T T	TTGCCCAT others(313): Show TTGCCCATTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0008 a0008	a0008c0042 a0008c0042	a0008c0042t0001 a0008c0042t0001	a0008c0042t0001g0115 a0008c0042t0001g0115	1	266	0.0038	320	c.226 others(341): Show c.2260-11535_2260-11534insTTTCTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCA ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCCCATTCTT	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM4C_chr9_6752973_7180648	7035316	T T	TTGCCCAT others(313): Show TTGCCCATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG00735.hp2 others(28): Show HG00609.hp1 HG00609.hp2 HG00735.hp2 HG01070.hp2 HG01081.hp1 HG01099.hp2 HG01192.hp1 HG01255.hp2 HG01433.hp2 HG01928.hp1 HG01975.hp1 HG02004.hp2 HG02071.hp1 HG02132.hp1 HG02135.hp2 HG02165.hp2 HG02698.hp1 HG02922.hp1 HG02965.hp1 HG03239.hp1 HG03490.hp2 HG03492.hp2 HG04115.hp2 NA18977.hp2 NA18984.hp1 NA18984.hp2 NA19005.hp1 NA19065.hp1 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0004 a0007 others(5): Show a0002 a0004 a0007 a0008 a0009 a0013 a0027 a0031	a0002c0045 a0004c0005 a0004c0006 others(13): Show a0002c0045 a0004c0005 a0004c0006 a0007c0017 a0007c0020 a0007c0029 a0007c0034 a0007c0038 a0008c0019 a0008c0028 a0008c0062 a0009c0010 a0013c0024 a0013c0025 a0027c0055 a0031c0051	a0002c0045t0002 a0004c0005t0001 a0004c0005t0002 others(17): Show a0002c0045t0002 a0004c0005t0001 a0004c0005t0002 a0004c0006t0001 a0004c0006t0002 a0007c0017t0001 a0007c0020t0001 a0007c0029t0001 a0007c0034t0001 a0007c0038t0002 a0008c0019t0001 a0008c0028t0001 a0008c0062t0001 a0009c0010t0002 a0009c0010t0012 a0013c0024t0001 a0013c0025t0001 a0013c0025t0009 a0027c0055t0001 a0031c0051t0002	a0002c0045t0002g0211 a0004c0005t0001g0103 a0004c0005t0001g0165 others(28): Show a0002c0045t0002g0211 a0004c0005t0001g0103 a0004c0005t0001g0165 a0004c0005t0002g0019 a0004c0005t0002g0067 a0004c0005t0002g0076 a0004c0005t0002g0080 a0004c0006t0001g0175 a0004c0006t0001g0233 a0004c0006t0002g0004 a0004c0006t0002g0097 a0004c0006t0002g0190 a0007c0017t0001g0006 a0007c0020t0001g0044 a0007c0020t0001g0173 a0007c0029t0001g0218 a0007c0034t0001g0001 a0007c0038t0002g0031 a0008c0019t0001g0104 a0008c0028t0001g0033 a0008c0028t0001g0034 a0008c0062t0001g0149 a0009c0010t0002g0215 a0009c0010t0002g0227 a0009c0010t0002g0245 a0009c0010t0012g0226 a0013c0024t0001g0063 a0013c0025t0001g0239 a0013c0025t0009g0259 a0027c0055t0001g0100 a0031c0051t0002g0081	31	266	0.1165	320	c.226 others(341): Show c.2260-11535_2260-11534insTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCA ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCCCATTCTT	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM6A_chrX_44868188_45117779	45048879	A A	ACTCAAGT others(313): Show ACTCAAGTTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	199	0.0050	320	c.655 others(337): Show c.655-2814_655-2813insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTCAAGTTACTTTTTT	KDM6A	ENSG00000147050.18	transcript	ENST00000611820.5	protein_coding	8/29		INFO_REALIGN_3_PRIME	chrX	TogoVar
KDR_chr4_55073481_55130595	55126939	T T	TCCAAGCA others(313): Show TCCAAGCAGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCA ATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02572.hp2 HG02896.hp1 others(2): Show HG02257.hp2 HG02572.hp2 HG02896.hp1 HG03486.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0085 others(2): Show a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0085 a0001c0001t0002g0093 a0001c0001t0002g0094	5	398	0.0126	320	c.-16 others(331): Show c.-1647_-1646insGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAA GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAG TCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAGAATCTGCTTGG	KDR	ENSG00000128052.10	transcript	ENST00000263923.5	protein_coding		1345		chr4	TogoVar
KIAA0825_chr5_94145851_94623604	94608474	A A	ATATTATA others(313): Show ATATTATATATATAATATATATTATATATATAATATATATAATATATATA AAATATATATATTATATATATAATATATATATTATATATATAATATATAT ATTTTATATATATTATATATATAAAATATATATATTATATATATAATATA TATTATATATATAATATATATATTTTATATATATAATATATATTATATAT ATAATATATATATTATATATATAATATATATTATATATATAATATATATA TTATATATATAATATATATTATATATATAATATATATATTATATATATAA TATATATATTATATATATAAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	54	0.0185	320	c.-15 others(341): Show c.-153+10025_-153+10026insATTATATATATAATATATATATTA TATATATAATATATATATTATATATATAATATATATTATATATATAATAT ATATATTATATATATAATATATATTATATATATAATATATATATTATATA TATAATATATATTATATATATAAAATATATATATTATATATATAATATAT ATTATATATATAATATATATATTTTATATATATAATATATATAAAATATA TATATTATATATATAATATATATATTATATATATAATATATATATTTTAT ATATATTATATATATTATATATATAATATATATTATATATATAATA	KIAA0825	ENSG00000185261.16	transcript	ENST00000682413.1	protein_coding	1/20			chr5	TogoVar
KIAA0825_chr5_94145851_94623604	94608474	A A	ATATTATA others(313): Show ATATTATATATATAATATATATTATATATATAATATATATAATATATATA AAATATATATATTATATATATAATATATATTATATATATAATATATATAT TTTATATATATTATATATATAAAATATATATATAATATATATAATATATA TTATATATATAATATATATATTTTATATATATAATATATATTATATATAT AATATATATATTATATATATAATATATATTATATATATAAAATATATATA TTATATATATAATATATATTATATATATAATATATATATTATATATATAA TATATATATTATATATATAAT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0044 a0001c0001t0043g0044	1	54	0.0185	320	c.-15 others(341): Show c.-153+10025_-153+10026insATTATATATATAATATATATATTA TATATATAATATATATATTATATATATAATATATATTATATATATAATAT ATATATTTTATATATATAATATATATTATATATATAATATATATATTATA TATATAATATATATTATATATATAAAATATATATATTATATATATAATAT ATATTATATATATTATATATATATTTTATATATATAATATATATAAAATA TATATATTATATATATAATATATATTATATATATAATATATATATTTTAT ATATATTATATATATTATATATATAATATATATTATATATATAATA	KIAA0825	ENSG00000185261.16	transcript	ENST00000682413.1	protein_coding	1/20			chr5	TogoVar
KIAA0825_chr5_94145851_94623604	94608474	A A	ATATTATA others(313): Show ATATTATATATATAATATATATTATATATATAATATATATAATATATATA AAATATATATATTATATATATAATATATATTATATATATAATATATATAT TTTATATATATTATATATATAAAATATATATATTATATATATAATATATA TTATATATATAATATATATATTTTATATATATAATATATATTATATATAT AATATATATATTATATATATAATATATATTATATATATAAAATATATATA TTATATATATAATATATATTATATATATAATATATATATTATATATATAA TATATATATTATATATATAAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02572.hp1 HG02622.hp1 others(3): Show HG00642.hp1 HG02572.hp1 HG02622.hp1 HG02723.hp1 HG03688.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0006 a0001c0001 a0001c0005 a0003c0006	a0001c0001t0001 a0001c0001t0019 a0001c0005t0024 others(2): Show a0001c0001t0001 a0001c0001t0019 a0001c0005t0024 a0001c0005t0051 a0003c0006t0025	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0019g0018 others(3): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0019g0018 a0001c0005t0024g0033 a0001c0005t0051g0054 a0003c0006t0025g0034	6	54	0.1111	320	c.-15 others(341): Show c.-153+10025_-153+10026insATTATATATATAATATATATATTA TATATATAATATATATATTATATATATAATATATATTATATATATAATAT ATATATTTTATATATATAATATATATTATATATATAATATATATATTATA TATATAATATATATTATATATATAAAATATATATATTATATATATAATAT ATATTATATATATAATATATATATTTTATATATATAATATATATAAAATA TATATATTATATATATAATATATATTATATATATAATATATATATTTTAT ATATATTATATATATTATATATATAATATATATTATATATATAATA	KIAA0825	ENSG00000185261.16	transcript	ENST00000682413.1	protein_coding	1/20			chr5	TogoVar
KIAA1549L_chr11_33371108_33679102	33653938	G G	GCTGGATC others(313): Show GCTGGATCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp2 HG01169.hp1 others(12): Show HG00735.hp1 HG00738.hp2 HG01169.hp1 HG01496.hp2 HG01515.hp2 HG01943.hp1 HG02148.hp1 HG02523.hp1 HG03490.hp2 NA18945.hp1 NA18953.hp1 NA18959.hp2 NA18983.hp2 NA19079.hp2 NA19084.hp2	a0001 a0020 a0001 a0020	a0001c0003 a0001c0017 a0001c0027 others(3): Show a0001c0003 a0001c0017 a0001c0027 a0001c0069 a0001c0095 a0020c0061	a0001c0003t0001 a0001c0003t0002 a0001c0003t0014 others(7): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0014 a0001c0003t0024 a0001c0017t0001 a0001c0017t0039 a0001c0027t0028 a0001c0069t0024 a0001c0095t0002 a0020c0061t0038	a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0002g0128 others(12): Show a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0002g0128 a0001c0003t0002g0149 a0001c0003t0002g0159 a0001c0003t0002g0204 a0001c0003t0002g0205 a0001c0003t0014g0039 a0001c0003t0024g0146 a0001c0017t0001g0029 a0001c0017t0039g0151 a0001c0027t0028g0112 a0001c0069t0024g0225 a0001c0095t0002g0140 a0020c0061t0038g0223	15	226	0.0664	320	c.576 others(339): Show c.5761-2061_5761-2060insTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGGATCATTTCT	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIF1B_chr1_10205570_10386603	10314970	T T	TAATAATT others(313): Show TAATAATTCCATGTACTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0252 a0001c0001t0060g0252	1	300	0.0033	320	c.211 others(339): Show c.2116-5059_2116-5058insCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATTCCATGTA	KIF1B	ENSG00000054523.20	transcript	ENST00000676179.1	protein_coding	22/48		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF2A_chr5_62301206_62396025	62339523	T T	TCTGTATT others(313): Show TCTGTATTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTCCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0058 a0001c0001t0006g0058	1	370	0.0027	320	c.65- others(335): Show c.65-7598_65-7597insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTCCACCGTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTATTTC	KIF2A	ENSG00000068796.19	transcript	ENST00000407818.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr5	TogoVar
KIF2A_chr5_62301206_62396025	62339523	T T	TCTGTATT others(313): Show TCTGTATTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00597.hp1 others(46): Show HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00673.hp2 HG00741.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01928.hp2 HG02015.hp2 HG02055.hp2 HG02071.hp1 HG02132.hp1 HG02135.hp1 HG02523.hp1 HG02630.hp1 HG03041.hp1 HG03209.hp2 HG03540.hp2 HG03579.hp2 HG04184.hp2 NA18906.hp2 NA18946.hp1 NA18947.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp2 NA18974.hp2 NA18981.hp2 NA18986.hp1 NA18990.hp1 NA18995.hp2 NA18999.hp2 NA19001.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19056.hp2 NA19064.hp1 NA19068.hp1 NA19084.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(9): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0021 a0001c0001t0022 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0044 a0004c0005t0042	a0001c0001t0002g0243 a0001c0001t0002g0255 a0001c0001t0002g0259 others(44): Show a0001c0001t0002g0243 a0001c0001t0002g0255 a0001c0001t0002g0259 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0296 a0001c0001t0002g0301 a0001c0001t0002g0311 a0001c0001t0002g0318 a0001c0001t0002g0320 a0001c0001t0002g0322 a0001c0001t0002g0326 a0001c0001t0005g0266 a0001c0001t0005g0272 a0001c0001t0005g0279 a0001c0001t0005g0294 a0001c0001t0005g0315 a0001c0001t0005g0319 a0001c0001t0006g0015 a0001c0001t0006g0060 a0001c0001t0006g0061 a0001c0001t0006g0156 a0001c0001t0006g0159 a0001c0001t0006g0162 a0001c0001t0006g0163 a0001c0001t0006g0164 a0001c0001t0006g0165 a0001c0001t0006g0169 a0001c0001t0009g0160 a0001c0001t0009g0161 a0001c0001t0009g0167 a0001c0001t0009g0168 a0001c0001t0009g0172 a0001c0001t0009g0335 a0001c0001t0014g0253 a0001c0001t0021g0174 a0001c0001t0022g0016 a0001c0001t0039g0166 a0001c0001t0040g0158 a0001c0001t0041g0307 a0001c0001t0044g0252 a0004c0005t0042g0175	49	370	0.1324	320	c.65- others(335): Show c.65-7598_65-7597insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTATTTC	KIF2A	ENSG00000068796.19	transcript	ENST00000407818.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr5	TogoVar
KIR3DL2_chr19_54845443_54872207	54867613	C C	CAAAAATA others(313): Show CAAAAATATTCGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTG GCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18982.hp1 NA18964.hp2 NA18982.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0043 a0004c0005t0002g0043	2	441	0.0045	320	c.88 others(329): Show c.882_*883insAAAAATATTCGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	KIR3DL2	ENSG00000240403.5	transcript	ENST00000326321.7	protein_coding		407		chr19	TogoVar
KLHL18_chr3_47277944_47351816	47316734	T T	TACATATA others(313): Show TACATATATACGTATATATGTATATGTGTGTATATATATACATATATACG TATGTGTGTGTATATATACATATATACGTATATATGTATATGTGTGTATA TATACATATATACGTATATATGTATATGTGTGTATATATACATATATACG TATATATGTATATGTGTGTATATATACATATATACGTATATATGTATATG TGTGTATATATACATATATACGTATATATGTATATGTGTGTATATACACA TATATACGTATATATGTATATGTATATATGTGTATATATACACATATATA CGTATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	338	0.0030	320	c.130 others(337): Show c.130-2889_130-2888insATATATATACATATATACGTATGTGTGT GTATATATACATATATACGTATATATGTATATGTGTGTATATATACATAT ATACGTATATATGTATATGTGTGTATATATACATATATACGTATATATGT ATATGTGTGTATATATACATATATACGTATATATGTATATGTGTGTATAT ATACATATATACGTATATATGTATATGTGTGTATATACACATATATACGT ATATATGTATATGTATATATGTGTATATATACACATATATACGTATATAT GTGTATATATACACATATATACGTATATATGTATATGTGTGT	KLHL18	ENSG00000114648.12	transcript	ENST00000232766.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
KLHL2_chr4_165202561_165328147	165269621	T T	TAAGAATG others(313): Show TAAGAATGTCGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	254	0.0039	320	c.544 others(337): Show c.544+6273_544+6274insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATGTCGA	KLHL2	ENSG00000109466.14	transcript	ENST00000226725.11	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr4	TogoVar
KLHL5_chr4_39057232_39131233	39072186	C C	CAAAAGAC others(313): Show CAAAAGACTGTAATTGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCA TCTTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAT TAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAG ATTGTGCCACTGCAATCCGGCCTGGGCTAAAGAGCGGGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03225.hp1 NA18522.hp1 HG03209.hp2 HG03225.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0008 a0001c0002 a0001c0003 a0001c0008	a0001c0002t0022 a0001c0003t0043 a0001c0008t0034 a0001c0002t0022 a0001c0003t0043 a0001c0008t0034	a0001c0002t0022g0017 a0001c0003t0043g0023 a0001c0008t0034g0022 a0001c0002t0022g0017 a0001c0003t0043g0023 a0001c0008t0034g0022	3	304	0.0099	320	c.384 others(337): Show c.384-3765_384-3764insGGCTGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATC GAGACCATCTTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAAATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTG AGCCAAGATTGTGCCACTGCAATCCGGCCTGGGCTAAAGAGCGGGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGACTGTAATT	KLHL5	ENSG00000109790.18	transcript	ENST00000504108.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
KRTAP5-11_chr11_71576855_71587875	71584878	A A	AGGAGTAA others(313): Show AGGAGTAAGAGCCAGCACCTCTTGCCCCCCTGGCTCTTAGGACCCCAATC GCAGGGGGGCGAGGCGCCCCCCGCCATGCAAGGAGTAAGAGCCAGCCCCT CTTGCCTCCCTGGCTCTTAGGACCCCCATCGCAGGGGGGCGAGGCGCCCC CCGCCATGCAAGGAGTAAGAGCCAGCCCCTCTTGCCTCCCTGGCTCTTAG GACCCCCATCGCAGGGGGGCGAGGCGCCCCCCGCCATGCAAGGAGTAAGA GCCAGCCCCTCTTGCCTCCCTGGCTCTTAGGACCCCCATTGCAGGGGGGC TAGGCGCCCCCCGCCATGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	464	0.0022	320	c.-20 others(331): Show c.-2042_-2041insCCGCATGGCGGGGGGCGCCTAGCCCCCCTGCAAT GGGGGTCCTAAGAGCCAGGGAGGCAAGAGGGGCTGGCTCTTACTCCTTGC ATGGCGGGGGGCGCCTCGCCCCCCTGCGATGGGGGTCCTAAGAGCCAGGG AGGCAAGAGGGGCTGGCTCTTACTCCTTGCATGGCGGGGGGCGCCTCGCC CCCCTGCGATGGGGGTCCTAAGAGCCAGGGAGGCAAGAGGGGCTGGCTCT TACTCCTTGCATGGCGGGGGGCGCCTCGCCCCCCTGCGATTGGGGTCCTA AGAGCCAGGGGGGCAAGAGGTGCTGGCTCTTACTCC	KRTAP5-11	ENSG00000204571.7	transcript	ENST00000398530.1	protein_coding		2004		chr11	TogoVar
KRTCAP3_chr2_27437381_27449297	27439616	T T	TCAGGTGC others(313): Show TCAGGTGCATTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGACCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	286	0.0035	320	c.-27 others(331): Show c.-2797_-2796insCAGGTGCATTTTTCTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ACCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCA	KRTCAP3	ENSG00000157992.12	transcript	ENST00000288873.7	protein_coding		2764		chr2	TogoVar
L1TD1_chr1_62189849_62217328	62190040	T T	TAAGATGT others(313): Show TAAGATGTATTGAAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAA TTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGA GATCGCGCCACTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0011 a0010c0011t0011	a0010c0011t0011g0356 a0010c0011t0011g0356	1	414	0.0024	320	c.-50 others(331): Show c.-5086_-5085insAAGATGTATTGAAATGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAG CTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	L1TD1	ENSG00000240563.2	transcript	ENST00000498273.2	protein_coding		4808		chr1	TogoVar
LARS1_chr5_146108034_146187650	146174471	T T	TATATATC others(313): Show TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TCCATATATATATCCATATATATATATCCATATATATATCCATATATATA TCCATATATATATATCCATATATATATCCATATATATATATCCATATATA TATCCATATATATATATCCATATATATATCCATATATATATATCCATATA TATATCCATATATATATATCCATATATATGGATATATATATATCCATATA TATCTATCCATATATATATCCATATATATCTATCCATATATATATCCATA TATCTATCCATATATATATCC	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18747.hp2 NA18982.hp1 HG03704.hp1 NA18747.hp2 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0228 a0002c0002t0002g0253 a0002c0002t0002g0261 a0002c0002t0002g0228 a0002c0002t0002g0253 a0002c0002t0002g0261	3	284	0.0106	320	c.126 others(337): Show c.126-1698_126-1697insGGATATATATATGGATAGATATATGGAT ATATATATGGATAGATATATATGGATATATATATGGATAGATATATATGG ATATATATATATCCATATATATGGATATATATATATGGATATATATATGG ATATATATATATGGATATATATATGGATATATATATATGGATATATATAT GGATATATATATATGGATATATATATGGATATATATATATGGATATATAT ATGGATATATATATGGATATATATATATGGATATATATATGGATATATAT ATATGGATATATATATATGGATATATATATATATGGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LARS2_chr3_45383576_45554407	45501160	A A	ATGGAATT others(313): Show ATGGAATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCATGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	242	0.0041	320	c.176 others(337): Show c.1760+591_1760+592insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCA CTGCATGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTT TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGGAATTTTT	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
LEPR_chr1_65415668_65646559	65590243	T T	TAAAATTA others(313): Show TAAAATTATTCATAGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTA GCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0175 a0002c0002t0020g0175	1	216	0.0046	320	c.495 others(337): Show c.495-2401_495-2400insGTGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATAC AAAAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GTCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTATTCATA	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
LEPR_chr1_65415668_65646559	65590243	T T	TAAAATTA others(313): Show TAAAATTATTCATATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTA GCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(22): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00621.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01167.hp1 HG01175.hp2 HG01361.hp2 HG01928.hp2 HG01952.hp1 HG02148.hp1 HG02451.hp1 HG02647.hp1 HG02809.hp2 HG02976.hp2 HG03017.hp1 HG03710.hp2 HG03927.hp1 HG04199.hp1 NA18960.hp1 NA18960.hp2 NA18972.hp1 NA18972.hp2	a0002 a0003 a0005 others(2): Show a0002 a0003 a0005 a0006 a0008	a0002c0002 a0002c0010 a0003c0004 others(5): Show a0002c0002 a0002c0010 a0003c0004 a0003c0005 a0003c0006 a0005c0007 a0006c0013 a0008c0019	a0002c0002t0001 a0002c0002t0005 a0002c0002t0037 others(11): Show a0002c0002t0001 a0002c0002t0005 a0002c0002t0037 a0002c0010t0013 a0003c0004t0006 a0003c0005t0002 a0003c0005t0007 a0003c0005t0029 a0003c0005t0049 a0003c0006t0001 a0003c0006t0005 a0005c0007t0003 a0006c0013t0022 a0008c0019t0017	a0002c0002t0001g0040 a0002c0002t0001g0081 a0002c0002t0005g0117 others(22): Show a0002c0002t0001g0040 a0002c0002t0001g0081 a0002c0002t0005g0117 a0002c0002t0005g0158 a0002c0002t0037g0036 a0002c0010t0013g0201 a0003c0004t0006g0002 a0003c0004t0006g0043 a0003c0005t0002g0200 a0003c0005t0007g0166 a0003c0005t0007g0167 a0003c0005t0007g0193 a0003c0005t0007g0194 a0003c0005t0007g0195 a0003c0005t0007g0198 a0003c0005t0029g0011 a0003c0005t0049g0118 a0003c0006t0001g0029 a0003c0006t0005g0130 a0003c0006t0005g0132 a0003c0006t0005g0173 a0005c0007t0003g0092 a0005c0007t0003g0099 a0006c0013t0022g0096 a0008c0019t0017g0126	25	216	0.1157	320	c.495 others(337): Show c.495-2399_495-2398insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAA AAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGT CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTATTCATATT	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results