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
FOCAD_chr9_20679259_21000950	20974289	T T	TCTTTCAG others(377): Show TCTTTCAGCATCTGTTCATGGCCTCTGCTTCTCCTTTTTCCTATGTTTCT CCTTTCTGTAGCTGTTTTTTTCCTGCTGACTCTTGCTTCCCCATTTTAGC ATCTGCTAATTTGGTCTCTGCTTCTCCTTTTTCCTGTGCTTCTCATTTCT GCTGCTGTTTTCACGTTTGCTGACTCTGCCCTACTTCCCTCTTCTTTCAG CATCTGTTCATGGCCTCTGCTTCTCCTTTTTCCTATGTTTCTCCTTTCTG CAGCTGATTTTTTCCTGCTGACTCTTGCTTCCCCATTTTAGCATCTGCTA ATTTGGCCTCTGCTTCTCCTTTTTCCTATGCTTCTCATTTCTGCTGCTGT TTTCATGTTTGCTGACTCTGCCCTACTTCCCCCTA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	211	0.0047	384	c.413 others(403): Show c.4133-2095_4133-2094insTTCCTATGTTTCTCCTTTCTGTAGCT GTTTTTTTCCTGCTGACTCTTGCTTCCCCATTTTAGCATCTGCTAATTTG GTCTCTGCTTCTCCTTTTTCCTGTGCTTCTCATTTCTGCTGCTGTTTTCA CGTTTGCTGACTCTGCCCTACTTCCCTCTTCTTTCAGCATCTGTTCATGG CCTCTGCTTCTCCTTTTTCCTATGTTTCTCCTTTCTGCAGCTGATTTTTT CCTGCTGACTCTTGCTTCCCCATTTTAGCATCTGCTAATTTGGCCTCTGC TTCTCCTTTTTCCTATGCTTCTCATTTCTGCTGCTGTTTTCATGTTTGCT GACTCTGCCCTACTTCCCCCTACTTTCAGCATCTGTTCATGGCCTCTGCT TCTCCTTT	FOCAD	ENSG00000188352.13	transcript	ENST00000338382.11	protein_coding	35/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
FOCAD_chr9_20679259_21000950	20974403	C C	CCTCTGCT others(377): Show CCTCTGCTTCTCCTTTTTCCTATGCTTCTCATTTCTGCTGCTGTTTTCAC GTTTGCTGACTCTGCCCTACTTCCCTCTTCTTTCAGCATCTGTTCATGGC CTCTGCTTCTCCTTTTTCCTATGTTTCTCCTTTCTGCAGCTGATTTTTTC CTGCTGACTCTTGCTTCCCCATTTTAGCATCTGCTAATTTGGCCTCTGCT TCTCCTTTTTCCTATGCTTCTCATTTCTGCTGCTGTTTTCACGTTTGCTG ACTCTGCCCTACTTCCCCCTACTTTCAGCATCTGTTCATGGCCTCTGCTT CTCCTTTTTCCTATGTTTCTCCTTTCTGTAGCTGTTTTTTTCCTGCTGAC TCTTGCTTCCCCATTTTAGCATCTGCTAATTTGGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp2 HG02922.hp1 others(1): Show HG01891.hp1 HG02257.hp2 HG02922.hp1 HG03471.hp2	a0001 a0006 a0001 a0006	a0001c0044 a0006c0005 a0001c0044 a0006c0005	a0001c0044t0001 a0006c0005t0001 a0001c0044t0001 a0006c0005t0001	a0001c0044t0001g0007 a0006c0005t0001g0151 a0006c0005t0001g0312 others(1): Show a0001c0044t0001g0007 a0006c0005t0001g0151 a0006c0005t0001g0312 a0006c0005t0001g0315	4	193	0.0207	384	c.413 others(403): Show c.4133-2001_4133-2000insTCCTATGCTTCTCATTTCTGCTGCTG TTTTCACGTTTGCTGACTCTGCCCTACTTCCCTCTTCTTTCAGCATCTGT TCATGGCCTCTGCTTCTCCTTTTTCCTATGTTTCTCCTTTCTGCAGCTGA TTTTTTCCTGCTGACTCTTGCTTCCCCATTTTAGCATCTGCTAATTTGGC CTCTGCTTCTCCTTTTTCCTATGCTTCTCATTTCTGCTGCTGTTTTCACG TTTGCTGACTCTGCCCTACTTCCCCCTACTTTCAGCATCTGTTCATGGCC TCTGCTTCTCCTTTTTCCTATGTTTCTCCTTTCTGTAGCTGTTTTTTTCC TGCTGACTCTTGCTTCCCCATTTTAGCATCTGCTAATTTGGTCTCTGCTT CTCCTTTT	FOCAD	ENSG00000188352.13	transcript	ENST00000338382.11	protein_coding	35/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
FOCAD_chr9_20679259_21000950	20974403	C C	CCTCTGCT others(377): Show CCTCTGCTTCTCCTTTTTCCTATGCTTCTCATTTCTGCTGCTGTTTTCAC GTTTGCTGACTCTGCCCTACTTCCCTCTTCTTTCAGCATCTGTTCATGGC CTCTGCTTCTCCTTTTTCCTATGTTTCTCCTTTCTGCAGCTGATTTTTTC CTGCTGACTCTTGCTTCCCCATTTTAGCATCTGCTAATTTGGCCTCTGCT TCTCCTTTTTCCTATGCTTCTCATTTCTGCTGCTGTTTTCATGTTTGCTG ACTCTGCCCTACTTCCCCCTACTTTCAGCATCTGTTCATGGCCTCTGCTT CTCCTTTTTCCTATGTTTCTCCTTTCTGTAGCTGTTTTTTTCCTGCTGAC TCTTGCTTCCCCATTTTAGCATCTGCTAATTTGGT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0024 a0024	a0024c0026 a0024c0026	a0024c0026t0001 a0024c0026t0001	a0024c0026t0001g0307 a0024c0026t0001g0307	1	190	0.0053	384	c.413 others(403): Show c.4133-2001_4133-2000insTCCTATGCTTCTCATTTCTGCTGCTG TTTTCACGTTTGCTGACTCTGCCCTACTTCCCTCTTCTTTCAGCATCTGT TCATGGCCTCTGCTTCTCCTTTTTCCTATGTTTCTCCTTTCTGCAGCTGA TTTTTTCCTGCTGACTCTTGCTTCCCCATTTTAGCATCTGCTAATTTGGC CTCTGCTTCTCCTTTTTCCTATGCTTCTCATTTCTGCTGCTGTTTTCATG TTTGCTGACTCTGCCCTACTTCCCCCTACTTTCAGCATCTGTTCATGGCC TCTGCTTCTCCTTTTTCCTATGTTTCTCCTTTCTGTAGCTGTTTTTTTCC TGCTGACTCTTGCTTCCCCATTTTAGCATCTGCTAATTTGGTCTCTGCTT CTCCTTTT	FOCAD	ENSG00000188352.13	transcript	ENST00000338382.11	protein_coding	35/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
FOXJ3_chr1_42171548_42340235	42222007	G G	GAGGAGGA others(377): Show GAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	299	0.0033	384	c.528 others(401): Show c.528+5875_528+5876insTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT CCTCCT	FOXJ3	ENSG00000198815.9	transcript	ENST00000361346.6	protein_coding	5/12			chr1	TogoVar
FOXP1_chr3_70949708_71588728	71435438	A A	AGGAAGGG others(377): Show AGGAAGGGACGGAGGGAGGGAAGGAAGGGACGGAGGGAGGGAAGAAGGGA CGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGG GTAGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGAAGGGA CGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGG GAGGAAGGGACGGAGGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAAGGA GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGG GAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	86	0.0116	384	c.-16 others(405): Show c.-168+57987_-168+57988insCCCTCCCTCCGTCCCTTCCTCCCT CCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCC CTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCT CCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCCTCC GTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCT CCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCC GTCCCTTCTACCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCTT CCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCCTTCCCTCCCTC CGTCCCTTCC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71435463	A A	AAGGGACG others(377): Show AAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGAAGGGACGGA GGGAGGGAAGAAGGGACGGAGGGAGGGTAGAAGGGACGGAGGGAGGGAAG AAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAGGGAGGGACGGA GGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGG GAAGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGA CGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGG GAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGA CGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02132.hp1 HG02572.hp2 others(1): Show HG01496.hp2 HG02132.hp1 HG02572.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0013 a0001c0001t0051	a0001c0001t0001g0038 a0001c0001t0010g0094 a0001c0001t0013g0011 others(1): Show a0001c0001t0001g0038 a0001c0001t0010g0094 a0001c0001t0013g0011 a0001c0001t0051g0084	4	74	0.0541	384	c.-16 others(405): Show c.-168+57962_-168+57963insCCCTCCCTCCCTCCGTCCCTTCCT CCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCC GTCCCTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCTT CCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCC GTCCCTCCTTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCTTCCCTCC CTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCTACCCTCCCTCCGTCCCT TCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCTTCCCTCC CTCCGTCCCT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71435463	A A	AAGGGACG others(377): Show AAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGAAGGGACGGA GGGAGGGAAGAAGGGACGGAGGGAGGGTAGAAGGGACGGAGGGAGGGAAG AAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAGGGAGGGACGGA GGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGG GAAGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGA CGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAAGGAGGGATGGAGGGAGG GAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGA CGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp1 HG02897.hp2 others(1): Show HG02145.hp2 HG02257.hp1 HG02897.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0055 a0001c0001t0080 a0001c0001t0007 a0001c0001t0055 a0001c0001t0080	a0001c0001t0007g0068 a0001c0001t0007g0070 a0001c0001t0055g0018 others(1): Show a0001c0001t0007g0068 a0001c0001t0007g0070 a0001c0001t0055g0018 a0001c0001t0080g0078	4	74	0.0541	384	c.-16 others(405): Show c.-168+57962_-168+57963insCCCTCCCTCCCTCCGTCCCTTCCT CCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCC GTCCCTTCCTCCCTCCCTCCATCCCTCCTTCCCTCCCTCCGTCCCTCCTT CCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCC GTCCCTCCTTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCTTCCCTCC CTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCTACCCTCCCTCCGTCCCT TCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCTTCCCTCC CTCCGTCCCT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
GAS6_chr13_113815549_113869076	113817352	C C	CGGGACAC others(377): Show CGGGACACATACCCCCTCCCCCCACGGGACACATCCCTCCTCCCCCCACG GGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGG ACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGAC ACATCCCCCCTCCCTCCACGGGACACATCCCCCCTCCCTCCACGGGACAC ATCCCCCCTCCCTCCAGGGAACACATCCCCCCTCCCTCCAGGGGACACAT CCCCCCTCCCTCCAGGGGGCACATCCCCCCTCCCTCCAGGGAACACATCC CCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCAGGGAACACATCCCC CCTCCCTCCAGGGGACACATCCCCCCTCCCTCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0135 a0001c0002t0001g0135	1	133	0.0075	384	c.35 others(395): Show c.3511_*3512insCTGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAG GGGGGATGTGTTCCCTGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGG GGGATGTGTTCCCTGGAGGGAGGGGGGATGTGCCCCCTGGAGGGAGGGGG GATGTGTCCCCTGGAGGGAGGGGGGATGTGTTCCCTGGAGGGAGGGGGGA TGTGTCCCGTGGAGGGAGGGGGGATGTGTCCCGTGGAGGGAGGGGGGATG TGTCCCCTGGAGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTG TCCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGTATGTGTC CCGTGGGGGGAGGAGGGATGTGTCCCGTGGGGGGAGGGGGTATGTGTCCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding		3196		chr13	TogoVar
GPIHBP1_chr8_143208218_143222170	143218313	A A	AACACCAC others(377): Show AACACCACCCCAACACCACCCCCAACACCATCCCCAACACCCCAATAACC CCCCAACACCACCCCCAACACCACCACAACACCATCCCCAACACCACCCC CAATACCACCCCCACCACCCCCAACACCACCCCAACACCACCCCAACACC ACCCAACACCATCCCCCACACCACCCCCAACACCACCCCAACACCACCCC AACACCACCCAACACCATCCCCCACACCACCCCCAACACCACCCCCAACA CCATCCCCCACACCACCCCCAACACCACCCCCACACTGCCCCCACACCAG CCCCAACACCACCCCCAACACCAGCCCCAACACCACCCCAATACCTCCCC AACACCACCCCCAACACCACCCAACACCATGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG03130.hp2 HG03209.hp2 others(1): Show HG02486.hp1 HG03130.hp2 HG03209.hp2 HG03579.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0003 a0003c0005t0002g0003	4	70	0.0571	384	c.27 others(395): Show c.2795_*2796insACACCACCCCAACACCACCCCCAACACCATCCCC AACACCCCAATAACCCCCCAACACCACCCCCAACACCACCACAACACCAT CCCCAACACCACCCCCAATACCACCCCCACCACCCCCAACACCACCCCAA CACCACCCCAACACCACCCAACACCATCCCCCACACCACCCCCAACACCA CCCCAACACCACCCCAACACCACCCAACACCATCCCCCACACCACCCCCA ACACCACCCCCAACACCATCCCCCACACCACCCCCAACACCACCCCCACA CTGCCCCCACACCAGCCCCAACACCACCCCCAACACCAGCCCCAACACCA CCCCAATACCTCCCCAACACCACCCCCAACACCACCCAACACCATGCCCC	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1144		chr8	TogoVar
GPR173_chrX_53043789_53085615	53074457	A A	AATATATA others(377): Show AATATATATAAATATATATTTATATTTATTTATAAATAAATATATATAAA TATATATAAATATATATTTATATTTATTTGTAAATAAATATATATAAATA TATATAAATATATATTTATATTTATTTGTAAATAAATATATATAAATATA TATAAATATATATTTATATTTATTTATAAATAAATATATATAAATATATA TTTATATTTATTTATAAATAAATATATATAAATATATATTTATATTTATT TATAAATAAATATATATAAATATATATTTATATTTATTTATATATAAATA TATAAATATATATTTATAGTTATTTATATATAAATATATAAATATATATT TATAGTTATTTATATATAAATATATAAATCTATAT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0022 a0001c0003t0005g0022	1	140	0.0071	384	c.-97 others(401): Show c.-97-2068_-97-2067insATATATATAAATATATATTTATATTTAT TTATAAATAAATATATATAAATATATATAAATATATATTTATATTTATTT GTAAATAAATATATATAAATATATATAAATATATATTTATATTTATTTGT AAATAAATATATATAAATATATATAAATATATATTTATATTTATTTATAA ATAAATATATATAAATATATATTTATATTTATTTATAAATAAATATATAT AAATATATATTTATATTTATTTATAAATAAATATATATAAATATATATTT ATATTTATTTATATATAAATATATAAATATATATTTATAGTTATTTATAT ATAAATATATAAATATATATTTATAGTTATTTATATATAAATATATAAAT CTATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1			chrX	TogoVar
GREB1_chr2_11529045_11647788	11618128	A A	AGATGGGC others(377): Show AGATGGGCCACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGG ACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGAT GGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAG GTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGC CACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCA CTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACT CCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCC TGGGATGGGTGACTCCTGGGACAGGTCACTCCTGG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0016 a0016	a0016c0022 a0016c0022	a0016c0022t0001 a0016c0022t0001	a0016c0022t0001g0082 a0016c0022t0001g0082	1	297	0.0034	384	c.341 others(399): Show c.3413-41_3413-40insCACTCCTGGGATGGGTGACTCCTGGGACAG GTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGC CACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCA CTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACT CCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCC TGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGCCACTCCTG GGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGG ATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGAC AGGT	GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	21/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
GREB1_chr2_11529045_11647788	11618168	G G	GACTCCTG others(377): Show GACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCA CTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGACGAGTCGCC CCTGGGATGGGTGACTCCTGGGACGAGTCGCCCCTGAGATGGGCCACTCC TGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTG GGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGG ACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGAT GGGTGACTCCTGGGACAGGTCACTCCTGGGACGAGTCGCCCCTGGGATGG GTGACTCCTGGGACGAGTCGCCCCTGAGATGGGCC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0003 a0003	a0003c0038 a0003c0038	a0003c0038t0001 a0003c0038t0001	a0003c0038t0001g0085 a0003c0038t0001g0091 a0003c0038t0001g0085 a0003c0038t0001g0091	2	290	0.0069	384	c.341 others(399): Show c.3413-41_3413-40insCACTCCTGGGACGAGTCGCCCCTGGGATGG GTGACTCCTGGGACGAGTCGCCCCTGAGATGGGCCACTCCTGGGACAGGT CACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGA CTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACT CCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCC TGGGACAGGTCACTCCTGGGACGAGTCGCCCCTGGGATGGGTGACTCCTG GGACGAGTCGCCCCTGAGATGGGCCACTCCTGGGACAGGTCACTCCTGGG ATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGAC AGGT	GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	21/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRTP1_chr13_113319163_113369130	113346639	T T	TGAGAGCA others(377): Show TGAGAGCAGACCCAGGAGCACCTCTGTGCCTGACAGTGGACCCGGGAGGA CCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCTGAGAACAGACC CGGGAGGACCTCTGTGGCCGAGAACAGATCCGGGAGGACCTCTGAAGCCG AGAGCAGACCCGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTC TGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCCGAGAACAGATCCG GGAGGACCTCTGAAGCCGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAG CGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTG TGGCCAAGAACAGATCCGGGAGGACCTCTGAAGCC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0155 a0001c0001t0003g0155	1	236	0.0042	384	c.466 others(401): Show c.466-1681_466-1680insGGCTTCAGAGGTCCTCCCGGATCTGTTC TTGGCCACAGAGGTCCTCCCGGGTCTGCTCTCTGCCACAGAGGTCCTCCC AGATCCGCTCAGCCACAGAGGTCCTCCCGGGTCTGCTCTCGGCTTCAGAG GTCCTCCCGGATCTGTTCTCGGCCACAGAGGTCCTCCCGGGTCTGCTCTC TGCCACAGAGGTCCTCCCAGATCCGCTCAGCCACAGAGGTCCTCCCGGGT CTGCTCTCGGCTTCAGAGGTCCTCCCGGATCTGTTCTCGGCCACAGAGGT CCTCCCGGGTCTGTTCTCAGCCACAGAGGTCCTCCCAGATCCGCTCAGCC ACAGAGGTCCTCCCGGGTCCACTGTCAGGCACAGAGGTGCTCCTGGGTCT GCTCTC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCTCCC others(377): Show CTCCTCCCCCCTCCTCCTCCCCCCTCCCACTCCTCCCCCCTCCTCCCCCC TCCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCTC CCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCT CCCCCCCCTCCTCCCCCCCCTCCTCCCCCCCCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTC CTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCT CCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCC CCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0016 a0016	a0016c0036 a0016c0036	a0016c0036t0001 a0016c0036t0001	a0016c0036t0001g0271 a0016c0036t0001g0271	1	207	0.0048	384	c.427 others(401): Show c.427-1062_427-1061insTCCTCCCCCCTCCTCCTCCCCCCTCCCA CTCCTCCCCCCTCCTCCCCCCTCCCCCCCCTCCTCCCCCCTCCTCCTCCC CCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCTCCTCCTCCCCCCCCTCCTCCCCCCCCTCCTCCCCCCCCTCCTCCCCC CCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCC TCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCC CTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTC CCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCT CCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
HBQ1_chr16_175459_186179	186068	G G	GGGAACAG others(377): Show GGGAACAGCGACACGGGGGGAACAGTGACACGGGGGAGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAG CGACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGC GACACGGAGGGAACAGCGACACGGGGGGAGGAACAGCGACACGGGGGGAG GAACAGCGACACGGGGGGAACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	243	0.0041	384	c.49 others(395): Show c.4960_*4961insGGAACAGCGACACGGGGGGAACAGTGACACGGGG GAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGA CACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGA GGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACA CGGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAGGAACA GCGACACGGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGA	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4890		chr16	TogoVar
ICA1_chr7_8108184_8267167	8152669	C C	CATTATCT others(377): Show CATTATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCT CCACCATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACC CCCACCACTACCACCATCACCTCCACCACCATCACCACCACCACCACAAC CACCATCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCTCCT CCACCATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACC CCCACCACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCTT CACCACCACTACCCCCACCACTACCACCATCACCTCTTCCACCACTACCA CCATCTCCTCCACCACCACTACCCCCACCACCACA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0177 a0001c0002t0008g0177	1	198	0.0051	384	c.804 others(401): Show c.804+4446_804+4447insTGTGGTGGTGGGGGTAGTGGTGGTGGAG GAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGGTGGGGGTAGT GGTGGTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAG TGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTG ATGGTGGAGGAGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGA GATGGTGGTTGTGGTGGTGGTGGTGATGGTGGTGGAGGTGATGGTGGTAG TGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTG ATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGA GATAAT	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IFNAR1_chr21_33319970_33364864	33321443	G G	GAACATAT others(377): Show GAACATATATATGTGGAACAAATACATATATGGAACATATATATGTGGAA CAAATACATATATGGAACATACATATGTGGAACAAATACATATATGGAAC ATACATATGTGGAACCAATACATATATGGAACATACATATGTGGAACCAA TACATATATGGAACATACATATGTGGAACCAATACATATATGGAACATAC ATATGTGGAACCAATACATATATGGAACATACATATGTGGAACCAATACA TATATGGAACATACATATGTGGAACCAATACATATATGGAACATACATAT GTGGAACCAATACATATATGCAACATACATATGTGGAACCAATACATATA TGGAACATACATATGTGGAACCAATACATATATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0030 a0003c0003t0030	a0003c0003t0030g0132 a0003c0003t0030g0132	1	160	0.0063	384	c.-36 others(395): Show c.-3613_-3612insAACATATATATGTGGAACAAATACATATATGGAA CATATATATGTGGAACAAATACATATATGGAACATACATATGTGGAACAA ATACATATATGGAACATACATATGTGGAACCAATACATATATGGAACATA CATATGTGGAACCAATACATATATGGAACATACATATGTGGAACCAATAC ATATATGGAACATACATATGTGGAACCAATACATATATGGAACATACATA TGTGGAACCAATACATATATGGAACATACATATGTGGAACCAATACATAT ATGGAACATACATATGTGGAACCAATACATATATGCAACATACATATGTG GAACCAATACATATATGGAACATACATATGTGGAACCAATACATATATGC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3526		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321475	G G	GAACATAC others(377): Show GAACATACATATGTGGAACCAATACATATATGGAACATACATATGTGGAA CCAATACATATATGGAACATACATATGTGGAACCAATACATATATGGAAC ATACATATGTGGAACCAATACATATATGGAACATACATATGTGGAACCAA TACATATATGGAACATACATATGTGGAACCAATACATATATGGAACATAC ATATGTGGAACCAATACATATATGCAACATACATATGTGGAACCAATACA TATATGCAACATACATATGTGGAACCAATACATATATGCAACATACATAT GTGGAACCAATACATATATGCAACATACATATGTGGAACCAATACATATA TGCAACATACATATGTGGAACCAATACATATATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02809.hp1 HG02055.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0242 a0001c0001t0001g0244	2	186	0.0108	384	c.-35 others(395): Show c.-3581_-3580insAACATACATATGTGGAACCAATACATATATGGAA CATACATATGTGGAACCAATACATATATGGAACATACATATGTGGAACCA ATACATATATGGAACATACATATGTGGAACCAATACATATATGGAACATA CATATGTGGAACCAATACATATATGGAACATACATATGTGGAACCAATAC ATATATGGAACATACATATGTGGAACCAATACATATATGCAACATACATA TGTGGAACCAATACATATATGCAACATACATATGTGGAACCAATACATAT ATGCAACATACATATGTGGAACCAATACATATATGCAACATACATATGTG GAACCAATACATATATGCAACATACATATGTGGAACCAATACATATATGC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3494		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321475	G G	GAACATAC others(377): Show GAACATACATATGTGGAACCAATACATATATGGAACATACATATGTGGAA CCAATACATATATGGAACATACATATGTGGAACCAATACATATATGGAAC ATACATATGTGGAACCAATACATATATGGAACATACATATGTGGAACCAA TACATATATGGAACATACATATGTGGAACCAATACATATATGGAACATAC ATATGTGGAACCAATACATATATGGAACATACATATGTGGAACCAATACA TATATGGAACATACATATGTGGAACCAATACATATATGCAACATACATAT GTGGAACCAATACATATATGCAACATACATATGTGGAACCAATACATATA TGCAACATACATATGTGGAACCAATACATATATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0241 a0001c0001t0027g0241	1	185	0.0054	384	c.-35 others(395): Show c.-3581_-3580insAACATACATATGTGGAACCAATACATATATGGAA CATACATATGTGGAACCAATACATATATGGAACATACATATGTGGAACCA ATACATATATGGAACATACATATGTGGAACCAATACATATATGGAACATA CATATGTGGAACCAATACATATATGGAACATACATATGTGGAACCAATAC ATATATGGAACATACATATGTGGAACCAATACATATATGGAACATACATA TGTGGAACCAATACATATATGGAACATACATATGTGGAACCAATACATAT ATGCAACATACATATGTGGAACCAATACATATATGCAACATACATATGTG GAACCAATACATATATGCAACATACATATGTGGAACCAATACATATATGC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3494		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323559	A A	AATATATA others(377): Show AATATATATATATGGAATATATATGTGGAATATATATATATGGAATATAT ATGTGGAATATATATATATGGAATATATATGTGGAATATATATATATGGA ATATATATGTGGAATATATATATATGGAATATATATGTGGAATATATATA TGGAATATATATGTGGAATATATATATATGGAATATATATGTGGAATATA TATATATGGAATATATATGTGGAATATATATATATGGAATATATATGTGG AATATATATATATGGAATATATATGTGGAATATATATATATGGAATATAT ATGTGGAATATATATATATGGAATATATGTGGAATATATATATATGGAAT ATATGTGGAATATATATATGGAATATATGTGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0130 a0001c0001t0020g0130	1	228	0.0044	384	c.-14 others(395): Show c.-1497_-1496insATATATATATATGGAATATATATGTGGAATATAT ATATATGGAATATATATGTGGAATATATATATATGGAATATATATGTGGA ATATATATATATGGAATATATATGTGGAATATATATATATGGAATATATA TGTGGAATATATATATGGAATATATATGTGGAATATATATATATGGAATA TATATGTGGAATATATATATATGGAATATATATGTGGAATATATATATAT GGAATATATATGTGGAATATATATATATGGAATATATATGTGGAATATAT ATATATGGAATATATATGTGGAATATATATATATGGAATATATGTGGAAT ATATATATATGGAATATATGTGGAATATATATATGGAATATATGTGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1410		chr21	TogoVar
IGF2R_chr6_159964082_160116504	160071295	C C	CGAGGCCC others(377): Show CGAGGCCCCTGTGCCCAGGGCCCGGTAGGCTGGGAGGGAAGGGTCGGGGG TGTGTGGAGGCCCCTGTGCCCAGGGCCTGGGAGGCTGGGAGGGAAGGGTC GGGGGTGTGTCGAGGCCCCTGTGCCCAGGGCCTGGGAGGCTGGGAGGGAA GGGTCGGGGGTGTGTCGAGGCCCCTGTGCCCAGGGCCTGGGAGGCTGGGA GGGAAGGGTCGGGGGTGTGTGGAGGCCCCTGTGCCCAGGGCCTGGGAGGC TGGGAGGGAAGGGTGGGGGTGTGTCGAGGCCCCTGTGCCCAGGGCCCGGT AGGCTGGGAGGGAAGGGTCGGGGGTGTGTCGAGGCCCCTGTGCCCAGGGC CTGGGAGGCTGGGAGGGAAGGGTCGGGGGTGTGTG	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0200 a0002c0003t0001g0200	1	215	0.0047	384	c.444 others(401): Show c.4444-594_4444-593insCGGTAGGCTGGGAGGGAAGGGTCGGGGG TGTGTGGAGGCCCCTGTGCCCAGGGCCTGGGAGGCTGGGAGGGAAGGGTC GGGGGTGTGTCGAGGCCCCTGTGCCCAGGGCCTGGGAGGCTGGGAGGGAA GGGTCGGGGGTGTGTCGAGGCCCCTGTGCCCAGGGCCTGGGAGGCTGGGA GGGAAGGGTCGGGGGTGTGTGGAGGCCCCTGTGCCCAGGGCCTGGGAGGC TGGGAGGGAAGGGTGGGGGTGTGTCGAGGCCCCTGTGCCCAGGGCCCGGT AGGCTGGGAGGGAAGGGTCGGGGGTGTGTCGAGGCCCCTGTGCCCAGGGC CTGGGAGGCTGGGAGGGAAGGGTCGGGGGTGTGTGGAGGCCCCTGTGCCC AGGGCC	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr6	TogoVar
IQSEC3_chr12_61767_183455	163211	C C	CCCCTCCA others(377): Show CCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGA CCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCC TCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCC TCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCA CAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCC CTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGA ACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCC CCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02622.hp1 HG02647.hp1 others(1): Show HG01167.hp1 HG02622.hp1 HG02647.hp1 HG02818.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0033 a0002c0001 a0002c0015 others(1): Show a0001c0033 a0002c0001 a0002c0015 a0012c0028	a0001c0033t0013 a0002c0001t0005 a0002c0015t0043 others(1): Show a0001c0033t0013 a0002c0001t0005 a0002c0015t0043 a0012c0028t0001	a0001c0033t0013g0149 a0002c0001t0005g0005 a0002c0015t0043g0226 others(1): Show a0001c0033t0013g0149 a0002c0001t0005g0005 a0002c0015t0043g0226 a0012c0028t0001g0062	4	177	0.0226	384	c.258 others(401): Show c.2584-159_2584-158insCCCTCCCTCCACAGAACCGGACCCCTCC CCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAG AACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTC CCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACC GGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCT CCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAC CCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCT CCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCT CCCCTC	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	163272	C C	CCCTCCCT others(377): Show CCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACC GGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCT CCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAG CCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCT CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0001 a0011c0022t0001	a0011c0022t0001g0264 a0011c0022t0001g0264	1	213	0.0047	384	c.258 others(401): Show c.2584-202_2584-201insGCCCTCCCCTCCCCTCCCTCCACAGAAC CGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCC TCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGA GCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCC TCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCC TCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCA CAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCC CTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGA ACCGGA	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KAZN_chr1_14593685_15123043	14652506	C C	CCTATCCA others(377): Show CCTATCCACCTATCCATCCACCCACCCACCCATCCATCTGCCTATACATC CACCCACCCACCCACCCACCTGTCCATCCACCCACCCACCCACCCATCCA CCTCTCCATCCACCCACCCACCCACCCATCCACCTGTCCATCCACCCACC CACCCACCCATCCACCTGTCCATCCATCCACCCACCCACCCATCCACCTA TCCACCCACCCACCCACCCATCCACCTCTCCATCCACCCACCCACCCACC CATCCACCTGTCCATCCACCCACCCACCCACCCATCCACCTGTCCATCCA TCCACCCACCCAACCATCCACCTATCCATCCACTCACCCACCCATCCACC TGTCCATCCACCCACCCACCCATCCACCTATCCAT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0061 a0002c0002t0001g0061	1	74	0.0135	384	c.226 others(403): Show c.226+53292_226+53293insTATCCATCCACCCACCCACCCATCCA TCTGCCTATACATCCACCCACCCACCCACCCACCTGTCCATCCACCCACC CACCCACCCATCCACCTCTCCATCCACCCACCCACCCACCCATCCACCTG TCCATCCACCCACCCACCCACCCATCCACCTGTCCATCCATCCACCCACC CACCCATCCACCTATCCACCCACCCACCCACCCATCCACCTCTCCATCCA CCCACCCACCCACCCATCCACCTGTCCATCCACCCACCCACCCACCCATC CACCTGTCCATCCATCCACCCACCCAACCATCCACCTATCCATCCACTCA CCCACCCATCCACCTGTCCATCCACCCACCCACCCATCCACCTATCCATC TATCCACC	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14652506	C C	CCTATCCA others(377): Show CCTATCCACCTATCCATCCACCCACCCACCCATCCATCTGCCTATACATC CACCCACCCACCCACCCACCTGTCCATCCACCCACCCACCCACCCATCCA CCTCTCCATCCACCCACCCACCCACCCATCCACCTGTCCATCCACCCACC CACCCACCCATCCACCTGTCCATCCATCCACCCACCCACCCATCCACCTA TCCACCCACCCACCCACCCATCCACCTCTCCATCCACCCACCCACCCACC CATCCACCTGTCCATCCACCCACCCACCCACCCATCCACCTGTCCATCCA TCCACCCACCCAACCATCCACCTATCCATCCACTCACCCACCCATCCACC TGTCCATCCACCCACCCACCCATCTACCTATCCAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp2 HG02040.hp1 HG02040.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0015 a0001c0001 a0005c0015	a0001c0001t0011 a0005c0015t0013 a0001c0001t0011 a0005c0015t0013	a0001c0001t0011g0118 a0005c0015t0013g0121 a0001c0001t0011g0118 a0005c0015t0013g0121	2	75	0.0267	384	c.226 others(403): Show c.226+53292_226+53293insTATCCATCCACCCACCCACCCATCCA TCTGCCTATACATCCACCCACCCACCCACCCACCTGTCCATCCACCCACC CACCCACCCATCCACCTCTCCATCCACCCACCCACCCACCCATCCACCTG TCCATCCACCCACCCACCCACCCATCCACCTGTCCATCCATCCACCCACC CACCCATCCACCTATCCACCCACCCACCCACCCATCCACCTCTCCATCCA CCCACCCACCCACCCATCCACCTGTCCATCCACCCACCCACCCACCCATC CACCTGTCCATCCATCCACCCACCCAACCATCCACCTATCCATCCACTCA CCCACCCATCCACCTGTCCATCCACCCACCCACCCATCTACCTATCCATC TATCCACC	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14652506	C C	CCTATCCG others(377): Show CCTATCCGCCTATCCATCCACCCACCCACCCATCCATCTGCCTATACATC CACCCACCCACCCACCCACCTGTCCATCCACCCACCCACCCACCCATCCA CCTCTCCATCCACCCACCCACCCACCCATCCACCTGTCCATCCACCCACC CACCCACCCATCCACCTGTCCATCCATCCACCCACCCACCCATCCACCTA TCCACCCACCCACCCACCCATCCACCTCTCCATCCACCCACCCACCCACC CATCCACCTGTCCATCCACCCACCCACCCACCCATCCACCTGTCCATCCA TCCACCCACCCAACCATCCACCTATCCATCCACTCACCCACCCATCCACC TGTCCATCCACCCACCCACCCATCTACCTATCCAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01106.hp2 HG01167.hp2 others(3): Show HG00099.hp2 HG01106.hp2 HG01167.hp2 HG03654.hp1 HG03834.hp1 HG03927.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0009 a0001c0001t0028 others(2): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0028 a0001c0003t0002 a0002c0002t0001	a0001c0001t0001g0086 a0001c0001t0009g0115 a0001c0001t0028g0095 others(3): Show a0001c0001t0001g0086 a0001c0001t0009g0115 a0001c0001t0028g0095 a0001c0003t0002g0082 a0002c0002t0001g0079 a0002c0002t0001g0083	6	79	0.0759	384	c.226 others(403): Show c.226+53289_226+53290insGCCTATCCATCCACCCACCCACCCAT CCATCTGCCTATACATCCACCCACCCACCCACCCACCTGTCCATCCACCC ACCCACCCACCCATCCACCTCTCCATCCACCCACCCACCCACCCATCCAC CTGTCCATCCACCCACCCACCCACCCATCCACCTGTCCATCCATCCACCC ACCCACCCATCCACCTATCCACCCACCCACCCACCCATCCACCTCTCCAT CCACCCACCCACCCACCCATCCACCTGTCCATCCACCCACCCACCCACCC ATCCACCTGTCCATCCATCCACCCACCCAACCATCCACCTATCCATCCAC TCACCCACCCATCCACCTGTCCATCCACCCACCCACCCATCTACCTATCC ATCTATCC	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNMB2_chr3_178531436_178849429	178757984	G G	GATATATA others(377): Show GATATATATATATCCAAGAGGATATATATATATATCTCCAAGAGGATATA TATATATACACAAGAGGATATATATATATACACACAAGAGGATATATATA TGTACACACAAGAGGATATATATATATGTACACACAAGAGGATATATATA TATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATA TATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATA TATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATA TATATATATATATATCCAAGAGGATATATATATATATATATATCCAAGAG GATATATATATATATATATATATCCAAGAGGATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	189	0.0053	384	c.-67 others(403): Show c.-67-49347_-67-49346insCCAAGAGGATATATATATATATCTCC AAGAGGATATATATATATACACAAGAGGATATATATATATACACACAAGA GGATATATATATGTACACACAAGAGGATATATATATATGTACACACAAGA GGATATATATATATATATCCAAGAGGATATATATATATATATATCCAAGA GGATATATATATATATATATCCAAGAGGATATATATATATATATATCCAA GAGGATATATATATATATATATCCAAGAGGATATATATATATATATATCC AAGAGGATATATATATATATATATATCCAAGAGGATATATATATATATAT ATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATAT ATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KLHL23_chr2_169728832_169756878	169738960	C C	CCTCCCCC others(377): Show CCTCCCCCTCCTCCCTCTCCTCCCCCTTCCCCTCCCCCTCCTCCCCCTCT CCCCCTCCTCCCCCCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCCTCC CTCTCCTCCCCCCTCCTCCCCCTTCCCCTCCCCCTCCTCCCCCTCTCCCC CCTCCTCCTCCCCCTCTCCCCCTCCTCCTCCCCCTCCTCCCTCTCCTCCC CCTCCTCCTCCCCCTCCTCCCTCTCCTCCCCCTTCCCCTCCCCCTCCCCC TCCTCCCCCTCTCCCCCTCCTCCCCCCTCCCCCCTCCTCCCCCCTCCCCC TCCTCCCCCCTCCCCCTCCCTCCCCCCCTCCCTCTCCTCCCCCTGCTCCC CTCCCCCTCCTCCCTCTCCTCCCCCTCCCCCTCCT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0055 a0001c0001t0004g0055	1	397	0.0025	384	c.121 others(403): Show c.1214-2424_1214-2423insTCCCCCTCCTCCCTCTCCTCCCCCTT CCCCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCCCTCCCCCTCCTCC CCCTCCCCCTCCTCCCCCCTCCCTCTCCTCCCCCCTCCTCCCCCTTCCCC TCCCCCTCCTCCCCCTCTCCCCCCTCCTCCTCCCCCTCTCCCCCTCCTCC TCCCCCTCCTCCCTCTCCTCCCCCTCCTCCTCCCCCTCCTCCCTCTCCTC CCCCTTCCCCTCCCCCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCCT CCCCCCTCCTCCCCCCTCCCCCTCCTCCCCCCTCCCCCTCCCTCCCCCCC TCCCTCTCCTCCCCCTGCTCCCCTCCCCCTCCTCCCTCTCCTCCCCCTCC CCCTCCTC	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
KNDC1_chr10_133155219_133231412	133223016	C C	CGTGTGTG others(377): Show CGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTG TGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTG TGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCC CATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGTGAGAGCCCATCCA GGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCT CTTCCCGGCGTGTGTGTGTGTGTGAGAGCCCATCCAGCCATGCTCTTCCC AGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTG TGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02896.hp1 HG02897.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0002c0006 a0001c0008 a0002c0006	a0001c0008t0004 a0002c0006t0025 a0001c0008t0004 a0002c0006t0025	a0001c0008t0004g0015 a0002c0006t0025g0276 a0001c0008t0004g0015 a0002c0006t0025g0276	3	309	0.0097	384	c.501 others(403): Show c.5019-1544_5019-1543insTGAGAGCCCATCCAGGCATGCTCTTC CCGGCGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTG TGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTG TGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGTGAG AGCCCATCCAGCCATGCTCTTCCCAGTGTGTGTGTGTGTGAGAGCCCATC CAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCCCATCCAGGCATG CTCTTCCCAGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCC GGCGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTG TGTGTGTG	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124610321	T T	TGCTGATG others(377): Show TGCTGATGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTG AGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGT GCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGA GGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTG CTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAG GGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGC TGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGG GTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	242	0.0041	384	c.717 others(401): Show c.717-2941_717-2940insTGATGGAGCGGGTGAGGGTGCGGGTGAG GGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGG TGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGG GTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGT GAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGG TGCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTG AGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGT GCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGA GGGAGC	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124610420	T T	TGAGGGTG others(377): Show TGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAG CGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGT GAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGC GGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTG AGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCG GGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGTGA GGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGG GTGAGGGTGCGGGTGAGGGTGCTGATGGAGCGGGC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0257 a0003c0003t0009g0257	1	257	0.0039	384	c.717 others(401): Show c.717-2837_717-2836insCTGGTGGAGCGGGTGAGGGTGCGGGTGA GGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGG GTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAG GGTGCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGG TGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGG GTGCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGT GAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGG TGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGATGGAGCGGGCG AGGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124610422	A A	AGGGTGAG others(377): Show AGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGT GGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGC GGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTG GAGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCG GGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGG AGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGG GTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGT GCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	98	0.0102	384	c.717 others(401): Show c.717-2828_717-2827insGTGGAGCGGGTGAGGGTGCGGGTGAGGG TGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTG AGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGT GCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGA GGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTG CTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAG GGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCTGGTGGAGCGGG TGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGG GTGCTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124610422	A A	AGGGTGAG others(377): Show AGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAG GGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGC TGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGG GTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCT GGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGG TGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTG GTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGT GCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	98	0.0102	384	c.717 others(401): Show c.717-2828_717-2827insGTGGAGCGGGTGAGGGTGCTGGTGGAGC GGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTG AGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCG GGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGA GGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGG GTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGTGAG GGTGCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGG TGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGG GTGCTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124611008	A A	AGTGGGTG others(377): Show AGTGGGTGTGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGCGGGTGAGG GTGCTGATGGAGCGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGCTGAT GGAGCAGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGCGAGTGAGGGTGC TGATGGAGCGGGTGAGGGTGCTGATGGAGCAGGTGAGGGTGCTGATGGAG CGGGTGAGAGTGTGGGTGTTAATGAAGCGGGTGCGGGTGAGGGTGCTGAT GGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGC GGGTGAGGGTGTTGATGGAGCGGGTGCGGGTGAGGGTGCTGATGGAGCGG GTGAGGGTGCGGGTGAGGGTGCTGATGGAGCGGGT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	258	0.0039	384	c.717 others(401): Show c.717-2255_717-2254insTGGGTGTGGGTGAGGGTGCTGATGGAGC GGGTGAGGGTGCGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGCTGATG GAGCGGGTGAGGGTGCTGATGGAGCAGGTGAGGGTGCTGATGGAGCGGGT GAGGGTGCGAGTGAGGGTGCTGATGGAGCGGGTGAGGGTGCTGATGGAGC AGGTGAGGGTGCTGATGGAGCGGGTGAGAGTGTGGGTGTTAATGAAGCGG GTGCGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGCGGGTGAGGGTGCT GATGGAGCGGGTGAGGGTGCGGGTGAGGGTGTTGATGGAGCGGGTGCGGG TGAGGGTGCTGATGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGATGGAG CGGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LIMK2_chr22_31207298_31285080	31226471	G G	GGAATTAC others(377): Show GGAATTACAGGCGTGAACCACTGTGCCCAGCCAAGAGTTGTTTTTAGTGT GGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATGCCTCCCTAGGTTCCT ACTTTTTGTTACTAGCTTTATTATAGCTATATTATTATTATTATTATTAT TATTATTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGTGTACAGTGGT GCGATCCCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCAGTTCTCC TGCCTCAGCCCCCCGAGTAGGTGGGACTACAGGCGCCTGCCACCACACCC GGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTGACCAG GCTGGTCTCGAGCTCCTGACCTCAGGTAAGTGCTA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0011 a0005c0012t0011	a0005c0012t0011g0010 a0005c0012t0011g0010	1	54	0.0185	384	c.116 others(399): Show c.116+656_116+657insTACAGGCGTGAACCACTGTGCCCAGCCAAG AGTTGTTTTTAGTGTGGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATG CCTCCCTAGGTTCCTACTTTTTGTTACTAGCTTTATTATAGCTATATTAT TATTATTATTATTATTATTATTGAGACAGAGTCTCGCTCTGTCGCCCAGG CTGGTGTACAGTGGTGCGATCCCGGCTCACTGCAACCTCTGCCTCCCGAG TTCAAGCAGTTCTCCTGCCTCAGCCCCCCGAGTAGGTGGGACTACAGGCG CCTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CACCTTGTTGACCAGGCTGGTCTCGAGCTCCTGACCTCAGGTAAGTGCTA GAAT	LIMK2	ENSG00000182541.18	transcript	ENST00000331728.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
LIMK2_chr22_31207298_31285080	31226471	G G	GGAATTAC others(377): Show GGAATTACAGGCGTGAACCACTGTGCCCAGCCAAGAGTTGTTTTTAGTGT GGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATGCCTCCCTAGGTTCCT ACTTTTTGTTACTAGCTTTATTATAGCTATATTATTATTATTATTATTAT TATTATTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGTGTACAGTGGT GCGATCCCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCAGTTCTCC TGCCTCAGCCCCCCGAGTAGGTGGGACTACAGGCGCCTGCCACCACACCC GGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTGACCAG GCTGGTCTGGAGCTCCTGACCTCAGGTAAGTGCTA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG00738.hp2 others(82): Show HG00544.hp2 HG00609.hp2 HG00738.hp2 HG01261.hp2 HG01884.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02451.hp2 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02818.hp1 HG02818.hp2 HG02965.hp2 HG02970.hp2 HG03225.hp2 HG03239.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp2 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18969.hp2 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18984.hp1 NA18988.hp2 NA18989.hp2 NA18991.hp2 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19067.hp1 NA19068.hp2 NA19077.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19091.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0007 a0001c0001t0018 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 others(80): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0214 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0007g0115 a0001c0001t0007g0138 a0001c0001t0018g0150 a0001c0001t0020g0133 a0001c0001t0021g0262 a0001c0007t0001g0098 a0001c0007t0001g0101	85	138	0.6159	384	c.116 others(399): Show c.116+656_116+657insTACAGGCGTGAACCACTGTGCCCAGCCAAG AGTTGTTTTTAGTGTGGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATG CCTCCCTAGGTTCCTACTTTTTGTTACTAGCTTTATTATAGCTATATTAT TATTATTATTATTATTATTATTGAGACAGAGTCTCGCTCTGTCGCCCAGG CTGGTGTACAGTGGTGCGATCCCGGCTCACTGCAACCTCTGCCTCCCGAG TTCAAGCAGTTCTCCTGCCTCAGCCCCCCGAGTAGGTGGGACTACAGGCG CCTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CACCTTGTTGACCAGGCTGGTCTGGAGCTCCTGACCTCAGGTAAGTGCTA GAAT	LIMK2	ENSG00000182541.18	transcript	ENST00000331728.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
LMF1_chr16_848634_975984	850668	A A	ATTGGAAG others(377): Show ATTGGAAGGTACATGGCTGCGTGTGGGATGATTTCTCGGGTTGTTCTCAT CGGATGGTACCTGGCCGCGTGGGGTACGATTTCTCGGGTTGTTCTCGTCG GATGGTACCTGGCCGCGTGGGGTACGATTTCTCGGGTTGTTCTCGTCGGA TGGTACCTGGCCGCGTGGGGTACGATTTCTCGGGTTGTTCTCGTCGGATG GTACCTGGCCGCGTGGGGTACGATTTCTCGGGTTGTTCTCGTCGGATGGT ACCTGGCCGCGTGGGGTACGATTTCTCGGGTTGTTCTCGTCGGATGGTAC CTGGCCGCGTGGGGTACGATTTCTCGGGTTGTTCTCGTCGGATGGTACCT GGCCACGTGTGGGACGATTTCTCAGGCTGTTCTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0004 a0004	a0004c0034 a0004c0034	a0004c0034t0015 a0004c0034t0015	a0004c0034t0015g0273 a0004c0034t0015g0273	1	128	0.0078	384	c.38 others(395): Show c.3863_*3864insCGAGAACAGCCTGAGAAATCGTCCCACACGTGGC CAGGTACCATCCGACGAGAACAACCCGAGAAATCGTACCCCACGCGGCCA GGTACCATCCGACGAGAACAACCCGAGAAATCGTACCCCACGCGGCCAGG TACCATCCGACGAGAACAACCCGAGAAATCGTACCCCACGCGGCCAGGTA CCATCCGACGAGAACAACCCGAGAAATCGTACCCCACGCGGCCAGGTACC ATCCGACGAGAACAACCCGAGAAATCGTACCCCACGCGGCCAGGTACCAT CCGACGAGAACAACCCGAGAAATCGTACCCCACGCGGCCAGGTACCATCC GATGAGAACAACCCGAGAAATCATCCCACACGCAGCCATGTACCTTCCAA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding		2965		chr16	TogoVar
LMF1_chr16_848634_975984	953287	A A	ACACCCAC others(377): Show ACACCCACTCCAAACCAGCCTCCTACACGTCCACACAGACACCCACTCCA AACCAGCCTCCTGCACGTCCACACAGACACCCACCCCAAACCAGCCTCCT ACACGTTCACACAGACACGGACCCCAAACCAGCCTCCTACACGTTCACAC AGACACGGACCCCAAACCAGCCTCCTACACGTTCACACAGACACGGACCC CAAACCAGCCTCCTACACGTCCACACAGACACCCACTCCAAACCAGCCTC CTACACGTCCACACAGACACCCACTCCAAACCAGCCTCCTGCACGTCCAC ACAGACACCCACCCCAAACCAGCCTCCTACACGTTCACACAGACACGGAC CCCAAACCAGCCTCCTGCACGTCCACACAGACACC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02148.hp2 NA19009.hp1 others(1): Show HG01891.hp2 HG02148.hp2 NA19009.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0012 others(1): Show a0001c0002 a0001c0004 a0001c0012 a0002c0017	a0001c0002t0001 a0001c0004t0001 a0001c0012t0018 others(1): Show a0001c0002t0001 a0001c0004t0001 a0001c0012t0018 a0002c0017t0001	a0001c0002t0001g0070 a0001c0004t0001g0049 a0001c0012t0018g0035 others(1): Show a0001c0002t0001g0070 a0001c0004t0001g0049 a0001c0012t0018g0035 a0002c0017t0001g0038	4	254	0.0157	384	c.503 others(401): Show c.503+1069_503+1070insGGTGTCTGTGTGGACGTGCAGGAGGCTG GTTTGGGGTCCGTGTCTGTGTGAACGTGTAGGAGGCTGGTTTGGGGTGGG TGTCTGTGTGGACGTGCAGGAGGCTGGTTTGGAGTGGGTGTCTGTGTGGA CGTGTAGGAGGCTGGTTTGGAGTGGGTGTCTGTGTGGACGTGTAGGAGGC TGGTTTGGGGTCCGTGTCTGTGTGAACGTGTAGGAGGCTGGTTTGGGGTC CGTGTCTGTGTGAACGTGTAGGAGGCTGGTTTGGGGTCCGTGTCTGTGTG AACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGCAGGAG GCTGGTTTGGAGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGAG TGGGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953511	A A	ACACCCAC others(377): Show ACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACTCCA CACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCTTCCT ACACGTTCACACAGACACCCACCCCACACCAGCCTCCTACACGTCCACAC AGACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCC CACACCAGCCTCCTACACGTCCACACAGACACCCACCCCACACCAGCCTC CTACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACACGTCCAC ACAGACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACCCAC CCCACACCAGCCTCCTACACGTTCACACAGACACC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	227	0.0044	384	c.503 others(399): Show c.503+845_503+846insGGTGTCTGTGTGAACGTGTAGGAGGCTGGT GTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTG TCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACG TGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTG GTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGG TGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGAA CGTGTAGGAAGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGC TGGTGTGGAGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTG GGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953652	C C	CACAGACC others(377): Show CACAGACCCGAAACCAGCTTCCTACATGTCCACACAGACACCCACCCCAC ACCAGCTTCCTACATGTCCACACAGACACCCACCCCACACCAGCCTCCTA CACGTTCACACAGACACGGACCCCAAACCAGCCTCCTGCACATCCACACA GACACAGACCCGAAACCAGCCTCCTGCACATCCACACAGACACAGACCCG AAACCAGCTTCCTACACGTCCACACAGACACCCACCCCACACCAGCTTCC TACATGTCCACACAGACACCCACCCCACACCAGCCTCCTACACGTTCACA CAGACACGGACCCCAAACCAGCCTCCTGCACATCCACACAGACACAGACC CGAAACCAGCCTCCTGCACATCCACACAGACACAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0241 a0001c0022t0001g0241	1	272	0.0037	384	c.503 others(399): Show c.503+704_503+705insCTGTGTCTGTGTGGATGTGCAGGAGGCTGG TTTCGGGTCTGTGTCTGTGTGGATGTGCAGGAGGCTGGTTTGGGGTCCGT GTCTGTGTGAACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGAC ATGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCT GGTTTCGGGTCTGTGTCTGTGTGGATGTGCAGGAGGCTGGTTTCGGGTCT GTGTCTGTGTGGATGTGCAGGAGGCTGGTTTGGGGTCCGTGTCTGTGTGA ACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACATGTAGGAAG CTGGTGTGGGGTGGGTGTCTGTGTGGACATGTAGGAAGCTGGTTTCGGGT CTGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953875	A A	ACACCCAC others(377): Show ACACCCACCCCAAACCAGCTTCCTACACGTTCACACAGACACGGACCCCA AACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCT ACACGTTCACACAGACACGGACCCCAAACCAGCCTCCTACACGTCCACAC AGACACCCACTCCAAACCAGCCTCCTACACGTCCACACAGACACCCACTC CAAACCAGCCTCCTGCACGTCCACACAGACACCCACCCCAAACCAGCTTC CTACACGTTCACACAGACACGGACCCCAAACCAGCTTCCTACACGTCCAC ACAGACACCCACTCCAAACCAGCTTCCTACACGTTCACACAGACACGGAC CCCAAACCAGCTTCCTACACGTCCACACAGACACC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0120 a0002c0007t0001g0120	1	154	0.0065	384	c.503 others(399): Show c.503+481_503+482insGGTGTCTGTGTGGACGTGTAGGAAGCTGGT TTGGGGTCCGTGTCTGTGTGAACGTGTAGGAAGCTGGTTTGGAGTGGGTG TCTGTGTGGACGTGTAGGAAGCTGGTTTGGGGTCCGTGTCTGTGTGAACG TGTAGGAAGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGCAGGAGGCTG GTTTGGAGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGAGTGGG TGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTCCGTGTCTGTGTGAA CGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGC TGGTTTGGGGTCCGTGTCTGTGTGAACGTGTAGGAAGCTGGTTTGGGGTG GGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953875	A A	ACACGGAC others(377): Show ACACGGACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCA AACCAGCCTCCTACATGTCCACACAGACACCCACCCCACACCAGCCTCCT ACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACAC AGACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCC CAAACCAGCCTCCTACACGTTCACACAGACACGGACCCCAAACCAGCCTC CTACACGTTCACACAGACACGGACCCCAAACCAGCCTCCTACACGTTCAC ACAGACACGGACCCCAAACCAGCCTCCTACACGTTCACACAGACACGGAC CCCAAACCAGCCTCCTACACGTCCACACAGACACC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02258.hp2 HG02280.hp2	a0001 a0019 a0001 a0019	a0001c0006 a0019c0042 a0001c0006 a0019c0042	a0001c0006t0001 a0019c0042t0001 a0001c0006t0001 a0019c0042t0001	a0001c0006t0001g0092 a0019c0042t0001g0083 a0001c0006t0001g0092 a0019c0042t0001g0083	2	155	0.0129	384	c.503 others(399): Show c.503+481_503+482insGGTGTCTGTGTGGACGTGTAGGAGGCTGGT TTGGGGTCCGTGTCTGTGTGAACGTGTAGGAGGCTGGTTTGGGGTCCGTG TCTGTGTGAACGTGTAGGAGGCTGGTTTGGGGTCCGTGTCTGTGTGAACG TGTAGGAGGCTGGTTTGGGGTCCGTGTCTGTGTGAACGTGTAGGAGGCTG GTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGG TGTCTGTGTGGACATGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGA CATGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACATGTAGGAGGC TGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTC CGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953985	A A	ACACCCAC others(377): Show ACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCCCA CACCAGCCTCCTACACGTCCACACAGACACCCACCCCACACCAGCTTCCT ACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACACGTCCACAC AGACACCCACCCCACACCAGCCTCCTGCACGTCCACACAGACACCCACCC CACACCAGCTTCCTACACGTCCACACAGACACCCACCCCACACCAGCTTC CTACACGTCCACACAGACACCCACCCCACACCAGCTTCCTACACGTCCAC ACAGACACCCACCCCACACCAGCCTCCTACATGTCCACACAGACACCCAC CCCACACCAGCCTCCTACACGTCCACACAGACACC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0004 a0004	a0004c0027 a0004c0027	a0004c0027t0001 a0004c0027t0001	a0004c0027t0001g0127 a0004c0027t0001g0127	1	144	0.0069	384	c.503 others(399): Show c.503+371_503+372insGGTGTCTGTGTGGACGTGTAGGAGGCTGGT GTGGGGTGGGTGTCTGTGTGGACATGTAGGAGGCTGGTGTGGGGTGGGTG TCTGTGTGGACGTGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACG TGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTG GTGTGGGGTGGGTGTCTGTGTGGACGTGCAGGAGGCTGGTGTGGGGTGGG TGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGA CGTGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGC TGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTG GGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LRBA_chr4_150259435_151020284	150489239	C C	CGAATATA others(377): Show CGAATATATAATATATTATATATACGAATATATAATATATTATATATACG AATATATAATATATTATATATACGTATATATAATATATTATATATACGAA TATATAATATATTATATATACGAATATATAATATATTATATATACGAATA TATAATATATTATATATACGAATATATAATATATTATATATACGAATATA TAATATATTATATATACGAATATATAATATATTATATATACGAATATATA ATATATTATATATACGAATATATAATATATTATATATACGAATATATAAT ATATTATATATACGAATATATAATATATTATATATACGAATATATAATAT ATTATATATACGAATATATAATATATTATATATAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0096 a0001c0013t0001g0096	1	167	0.0060	384	c.644 others(403): Show c.6449-1406_6449-1405insTTATATATAATATATTATATATTCGT ATATATAATATATTATATATTCGTATATATAATATATTATATATTCGTAT ATATAATATATTATATATTCGTATATATAATATATTATATATTCGTATAT ATAATATATTATATATTCGTATATATAATATATTATATATTCGTATATAT AATATATTATATATTCGTATATATAATATATTATATATTCGTATATATAA TATATTATATATTCGTATATATAATATATTATATATTCGTATATATAATA TATTATATATTCGTATATATAATATATTATATATACGTATATATAATATA TTATATATTCGTATATATAATATATTATATATTCGTATATATAATATATT ATATATTC	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	41/56			chr4	TogoVar
LUC7L_chr16_183990_234449	186068	G G	GGGAACAG others(377): Show GGGAACAGCGACACGGGGGGAACAGTGACACGGGGGAGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAG CGACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGC GACACGGAGGGAACAGCGACACGGGGGGAGGAACAGCGACACGGGGGGAG GAACAGCGACACGGGGGGAACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	227	0.0044	384	c.31 others(395): Show c.3129_*3130insTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTT CCTCCCCCCGTGTCGCTGTTCCTCCCCCCGTGTCGCTGTTCCCTCCGTGT CGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCC CCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTT CCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGT TCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTC GCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCC CGTGTCGCTGTTCCTCCCCCGTGTCACTGTTCCCCCCGTGTCGCTGTTCC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2921		chr16	TogoVar
LUC7L_chr16_183990_234449	186561	G G	GGGAACAG others(377): Show GGGAACAGCGACACGGGGAGGAACAGCGACACGGGAGGGAGGAACAGCGA CACGGGGGGGAACAGCGACACGGGGGGGACAGCGACACGGGGGGGACAGC GACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGA ACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGG GGGGAACAGCGTCACGGGAGGAACAGCGACACGGGGGAGGAACAGCGACA CGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	304	0.0033	384	c.26 others(395): Show c.2636_*2637insTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCCCCGTGT CGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCC GTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCGTGACGCTGTTCCC CCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGT CGCTGTCCCCCCCGTGTCGCTGTCCCCCCCGTGTCGCTGTTCCCCCCCGT GTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2428		chr16	TogoVar
LYPD8_chr1_248734415_248760759	248740651	C C	CGGCTCTA others(377): Show CGGCTCTAGGACCAGGCATGAAGCAGGGCCACAATTTGAGTTCAAGGCTG GCTCTAGGACCAGGCATGAAGCAGGGCTGCAATTTGAGTTCAAGGCCGGC TCTAGGACCAGGCATGAAGCAGGGCCGCAATTTGAGTTCAAGGCCGGCTC TAGGACCAGGCATGAAGCAGGGCCGCAATTTGAGTTCAAGGCCGGCTCTA GGACCAGGCATGAAGCAGGGCTGCAATTTGAGTTCAAGGCCGGCTCTAGG ACCAGGCATGAAGCAGGGCCGCAATTTGAGTTCAAGGCTGGCTCTAGGAC CAGGCATGAAGCAGGGCTGCAATTTGAGTTCAAGGCTGGCTCTAGGACCA GGCATGAAGCAGGGCTGCAATTTGAGTTCAAGGCT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0110 a0002c0002t0003g0110	1	372	0.0027	384	c.476 others(399): Show c.476-803_476-802insAGCCTTGAACTCAAATTGCAGCCCTGCTTC ATGCCTGGTCCTAGAGCCAGCCTTGAACTCAAATTGCAGCCCTGCTTCAT GCCTGGTCCTAGAGCCAGCCTTGAACTCAAATTGCGGCCCTGCTTCATGC CTGGTCCTAGAGCCGGCCTTGAACTCAAATTGCAGCCCTGCTTCATGCCT GGTCCTAGAGCCGGCCTTGAACTCAAATTGCGGCCCTGCTTCATGCCTGG TCCTAGAGCCGGCCTTGAACTCAAATTGCGGCCCTGCTTCATGCCTGGTC CTAGAGCCGGCCTTGAACTCAAATTGCAGCCCTGCTTCATGCCTGGTCCT AGAGCCAGCCTTGAACTCAAATTGTGGCCCTGCTTCATGCCTGGTCCTAG AGCC	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6			chr1	TogoVar
LYPD8_chr1_248734415_248760759	248742636	G G	GGGGGAGA others(377): Show GGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCCGGGGAGATTACGCT CTGGTGGGGATGTTGGCAGCGGGGGAGATTATGCTCTGGTGGGGATGTTG GCAGCCGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCGGGGGAGGTT ATGCTCTGGTGGGGATGTTGGCAGCCAGGGAGATTATGCTCTGGTGGGGA TGTTGGCAGCGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCCGGGGA GATTATGCTCTGGTGGGGATGTTGGCAGTCGGGGGAGATTATGCTCTGGT GGGGATGTTGGCAGCGGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGC CGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	372	0.0027	384	c.475 others(401): Show c.475+2505_475+2506insGCTGCCAACATCCCCACCAGAGCATAAT CTCCCCGGCTGCCAACATCCCCACCAGAGCATAATCTCCCCCGCTGCCAA CATCCCCACCAGAGCATAATCTCCCCCGACTGCCAACATCCCCACCAGAG CATAATCTCCCCGGCTGCCAACATCCCCACCAGAGCATAATCTCCCCGCT GCCAACATCCCCACCAGAGCATAATCTCCCTGGCTGCCAACATCCCCACC AGAGCATAACCTCCCCCGCTGCCAACATCCCCACCAGAGCATAATCTCCC CGGCTGCCAACATCCCCACCAGAGCATAATCTCCCCCGCTGCCAACATCC CCACCAGAGCGTAATCTCCCCGGCTGCCAACATCCCCACCAGAGCATAAT CTCCCC	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6			chr1	TogoVar
MAPKAP1_chr9_125432394_125712208	125458888	G G	GCGGGGTG others(377): Show GCGGGGTGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGTGGCTGGCCGGGCGGGGTGCTGACCCCCCCACCTCC CTCCCGGACGGGGTGGCTGGCCAGGCGGGGGACTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0164 a0001c0002t0001g0164	1	3	0.3333	384	c.134 others(403): Show c.1345+9083_1345+9084insTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCACCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCACCCCGCCCGGCCAGCCACCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCATCTGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCACCCCG	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	10/11			chr9	TogoVar
MAPKAP1_chr9_125432394_125712208	125458888	G G	GCGGGGTG others(377): Show GCGGGGTGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGTGCTGACCCCCCCACCTC CCTCCCGGACGGGGTGGCTGGCCAGGCGGGGGGCTGACGCCCCCACCTCC CTCCCGGATGGGGCGGCTGGCCTGGCGGGGGACTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0197 a0001c0003t0003g0197	1	3	0.3333	384	c.134 others(403): Show c.1345+9083_1345+9084insTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCAGGCCAGCCGCCCC ATCCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCTGGCCAGCCACCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCACCCCACCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCATCTGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCACCCCG	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	10/11			chr9	TogoVar

Search by Variant

Search

Search Results