Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ATP9B_chr18_79064394_79383283	79326371	G G	GTACCCTC others(403): Show GTACCCTCCCTCCCGTCATATAGTGTTAGGGTGTCACCTCTGTACCCTCC CTCCCCTCACATGGTGTTAGGGTGTCACCTCTGTACCCTCCCTCCCCTCA CATGGTGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTT AGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCA TCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTAC CCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCCCTCC CCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTTCCTCCCCTCACATG GTGTTAGTGTGTCATCTCTGCACACTCCCTCCCCTCACATGGTGTTAGGG TGTCATCTCTA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0230 a0002c0002t0002g0230	1	55	0.0182	410	c.177 others(429): Show c.1774-2757_1774-2756insGTCATATAGTGTTAGGGTGTCACCTC TGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCACCTCTGTACCCTC CCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTC ACATGGTGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGT TAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTC ATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTA CCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTTCCTC CCCTCACATGGTGTTAGTGTGTCATCTCTGCACACTCCCTCCCCTCACAT GGTGTTAGGGTGTCATCTCTATACCCTCCCTCCC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326371	G G	GTACCCTT others(403): Show GTACCCTTCCTCCCCTCACATGGTGTTAGTGTGTCATCTCTGCACACTCC CTCCCCTCACATGGTGTTAGGGTGTCATCTCTATACCCTCCCTCCCCTCA CATGGTGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTT AGGGTGTCATCTCTGCACACTCCCTCCCCTCACATGGTGTTAGGGTGTCA TCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTAC CCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTTCCTCC CCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATG GTGTTAGGGTGTCATCCCTGCACACTCCCTCCCCTCACATGGTGTTAGGG TGTCATCTCTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	55	0.0182	410	c.177 others(429): Show c.1774-2764_1774-2763insTCCTCCCCTCACATGGTGTTAGTGTG TCATCTCTGCACACTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTA TACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCCC TCCCCTCACATGGTGTTAGGGTGTCATCTCTGCACACTCCCTCCCCTCAC ATGGTGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTA GGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCAT CTCTGTACCCTTCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACC CTCCCTCCCCTCACATGGTGTTAGGGTGTCATCCCTGCACACTCCCTCCC CTCACATGGTGTTAGGGTGTCATCTCTATACCCT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCGTGCA others(403): Show TGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCAC CCCGCAGCCCCGTCCAGGCCCCGACGCCTGCAGCCTCCTGGCAGAGCCAG CCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGC CAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0008 a0001c0003t0001g0008	1	223	0.0045	410	c.36 others(421): Show c.3604_*3605insGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCCTGCAGCC TCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCA GCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(403): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCC CCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	296	0.0034	410	c.36 others(421): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCAGCCCCCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
C2CD4C_chr19_400445_414147	404678	C C	CGGGGTCC others(403): Show CGGGGTCCTGCCCCGAGGGGTGTGGGGGGGGGACGGGGTCCTGCCCCGAG GGGTGTGGGGGGGGGACGGGGTCCTGCCCCGAGGGGTGTGGGGGGGGGAC GGGGTCCTGCCCCGAGGGGTGTGGGGGGGGGGACGGGGTCCTGCCCCGAG GGGTGTGGGGGGGGGGGACGGGGTCCTGCCCCGAGGGGTGTGGGGGGGGG GGACGGGGTCCTGCCCCGAGGGGTGTGGGGGGGGGGGACGGGGTCCTGCC CCGAGGGGTGTGGGGGGGGGGGACGGGGTCCTGCCCCGAGGGGTGTGGGG GGGGGGACGGGGTCCTGCCCCGAGGGGTGTGGGGGGGGGGACGGGGTCCT GCCCCGAGGGGTGTGGGGGGGGGGACGGGGTCCTGCCCCGAGGGGTGTGG GGGGGGGGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0124 a0001c0006t0124	a0001c0006t0124g0066 a0001c0006t0124g0066	1	163	0.0061	410	c.24 others(421): Show c.2417_*2418insCGTCCCCCCCCCCACACCCCTCGGGGCAGGACCC CGTCCCCCCCCCCACACCCCTCGGGGCAGGACCCCGTCCCCCCCCCCACA CCCCTCGGGGCAGGACCCCGTCCCCCCCCCCACACCCCTCGGGGCAGGAC CCCGTCCCCCCCCCCCACACCCCTCGGGGCAGGACCCCGTCCCCCCCCCC CACACCCCTCGGGGCAGGACCCCGTCCCCCCCCCCCACACCCCTCGGGGC AGGACCCCGTCCCCCCCCCCCACACCCCTCGGGGCAGGACCCCGTCCCCC CCCCCACACCCCTCGGGGCAGGACCCCGTCCCCCCCCCACACCCCTCGGG GCAGGACCCCGTCCCCCCCCCACACCCCTCGGGGCAGGACCCCGTCCCCC CCCCACACCCCTCGGGGCAGGACCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		766		chr19	TogoVar
CACNA2D2_chr3_50357613_50508634	50480935	G G	GAAGGGGG others(403): Show GAAGGGGGAGGAAGTGGGAGGAAATGGGAGGAAGGGGGGGAAGCGGGAGG AAGGGGGAGGAAGGGGGAGGAAATGGGAGGAAGGGGGGGAAGCGGGAGGA AGGGGGAGGAAGGGGGAGGAAATGGGAGGAAGGGGGGGGAAGCGGGAGGA AGGGGGAGGAAGGGGGAGGAAGGGGGAGGAAGGGGGGGGAAGCGGGAGGA AGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGGGGGAAGGGGGAGGAAG GGGGAGGAAGGGGGAGGAAGGGGGAGGAAGGGGGAGGAAGGGGGAGGAAG GGGGGAAGCGGGAGGAAGGGGGAGGAAGTGGGAGGAAGGGGGAGGAAGGG GGAGGAAGGGGGGAAGCGGGAGGAAGGGGAAGGAAGGGGGAGGAAGGGGG TAAGGGGGGGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0083	1	73	0.0137	410	c.207 others(427): Show c.207-4737_207-4736insACCCCCCCTTACCCCCTTCCTCCCCCTT CCTTCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCCCTTCC TCCCACTTCCTCCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTC CCCCTTCCTCCCCCTTCCTCCCCCTTCCTCCCCCTTCCTCCCCCTTCCCC CCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCGCTTCCCCCC CCTTCCTCCCCCTTCCTCCCCCTTCCTCCCCCTTCCTCCCGCTTCCCCCC CCTTCCTCCCATTTCCTCCCCCTTCCTCCCCCTTCCTCCCGCTTCCCCCC CTTCCTCCCATTTCCTCCCCCTTCCTCCCCCTTCCTCCCGCTTCCCCCCC TTCCTCCCATTTCCTCCCACTTCCTCCCCCTT	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	1/37			chr3	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(403): Show ATATATATATAATTATATATATAATTTTATATATATATAATTATATATAT AATTTTATATATATATAATTTTATATATATATAATTATATATATAATTTT ATATATATATAATTATATATACAATTTTATATATATATAATTATATATAC AATTTTATATATATATAATTATATATACAATTTTATATATATATAATTAT ATATACAATTTTATATATATATAATTATATATATATAATTATATATATAA TTTTATATATATATAATTATATATATAATTTTATATATATATAATTATAT ATATAATTTTATATATATATAATTATATATATAATTTTATATATATATAA TTTTATATATAATTATATATATAATTTTATATATAATTATATATATAATT TTATATATAAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0020 a0004c0005t0002g0020	1	94	0.0106	410	c.907 others(425): Show c.907+327_907+328insATTATATATAAAATTATATATATAATTATA TATAAAATTATATATATAATTATATATAAAATTATATATATATAAAATTA TATATATAATTATATATATATAAAATTATATATATAATTATATATATATA AAATTATATATATAATTATATATATATAAAATTATATATATAATTATATA TATATAATTATATATATATAAAATTGTATATATAATTATATATATATAAA ATTGTATATATAATTATATATATATAAAATTGTATATATAATTATATATA TATAAAATTGTATATATAATTATATATATATAAAATTATATATATAATTA TATATATATAAAATTATATATATATAAAATTATATATATAATTATATATA TATAAAATTATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CARD11_chr7_2901142_3048867	2909378	T T	TGCCCCTC others(403): Show TGCCCCTCACCCCTCCGCCCCCCACCCCTCCGCCCCCACCCTCCGCCTCT CATCCCTCCGCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCCCACCCTC CGCCTCTCATCCCTCCGCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCC TCACCCCTGCGCCCCTCACCCTCCGCCCCTCACCCCTCCGCCCCCCACCC CTCCGCCCCCCACCCCTCCGCCCCTCACCCTCCGCCTCTCATCCCTCCGC CCCTCACCCCTCCGCCCCTCACCCCTGCGCCCCTCACCCCTCCGCCTCTC ACCCCTCCGCCCCCCACCCCTCCGCCCCTCACCCTCCGCCTCTCATCCCT CCGCCCCTCACCCCTCCGCCCCTCACCCCTCCACCCCTCACCCTCTGCCT CTCACCCCTGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp1 HG02004.hp2 others(3): Show HG00642.hp2 HG01070.hp1 HG02004.hp2 HG02486.hp2 NA19090.hp2 NA21309.hp2	a0001 a0009 a0001 a0009	a0001c0003 a0001c0005 a0001c0068 others(1): Show a0001c0003 a0001c0005 a0001c0068 a0009c0054	a0001c0003t0001 a0001c0005t0001 a0001c0068t0010 others(1): Show a0001c0003t0001 a0001c0005t0001 a0001c0068t0010 a0009c0054t0001	a0001c0003t0001g0045 a0001c0005t0001g0178 a0001c0005t0001g0198 others(3): Show a0001c0003t0001g0045 a0001c0005t0001g0178 a0001c0005t0001g0198 a0001c0005t0001g0263 a0001c0068t0010g0113 a0009c0054t0001g0134	6	246	0.0244	410	c.326 others(427): Show c.3260+671_3260+672insGCAGGGGTGAGAGGCAGAGGGTGAGGGG TGGAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGGCGGAG GGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGGTGAGAGGCGGAGGGGTGA GGGGCGCAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGGC GGAGGGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGGTGGGGGGCGGAGGG GTGAGGGGCGGAGGGTGAGGGGCGCAGGGGTGAGGGGCGGAGGGGTGGGG GCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGGGCGGAGG GGTGGGGGCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGG GCGGAGGGGTGGGGGGCGGAGGGGTGAGGGGC	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2909378	T T	TGCCCCTC others(403): Show TGCCCCTCACCCCTCCGCCCCCCACCCCTCCGCCCCCACCCTCCGCCTCT CATCCCTCCGCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCCCACCCTC CGCCTCTCATCCCTCCGCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCC TCACCCCTGCGCCCCTCACCCTCCGCCCCTCACCCCTCCGCCCCCCACCC CTCCGCCCCCCACCCCTCTGCCCCTCACCCTCCGCCTCTCATCCCTCCGC CCCTCACCCCTCCGCCCCTCACCCCTGCGCCCCTCACCCCTCCGCCTCTC ACCCCTCCGCCCCCCACCCCTCCGCCCCTCACCCTCCGCCTCTCATCCCT CCGCCCCTCACCCCTCCGCCCCTCACCCCTCCACCCCTCACCCTCTGCCT CTCACCCCTGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00438.hp2 others(13): Show HG00140.hp2 HG00280.hp2 HG00438.hp2 HG00558.hp1 HG00741.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01981.hp2 HG02015.hp2 HG02040.hp2 HG02735.hp2 HG02818.hp2 NA18952.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0005 a0001c0067 others(1): Show a0001c0003 a0001c0005 a0001c0067 a0002c0047	a0001c0003t0001 a0001c0005t0001 a0001c0067t0001 others(1): Show a0001c0003t0001 a0001c0005t0001 a0001c0067t0001 a0002c0047t0001	a0001c0003t0001g0041 a0001c0003t0001g0069 a0001c0003t0001g0143 others(13): Show a0001c0003t0001g0041 a0001c0003t0001g0069 a0001c0003t0001g0143 a0001c0003t0001g0272 a0001c0003t0001g0306 a0001c0005t0001g0009 a0001c0005t0001g0011 a0001c0005t0001g0166 a0001c0005t0001g0179 a0001c0005t0001g0251 a0001c0005t0001g0255 a0001c0005t0001g0256 a0001c0005t0001g0303 a0001c0005t0001g0307 a0001c0067t0001g0311 a0002c0047t0001g0147	16	256	0.0625	410	c.326 others(427): Show c.3260+671_3260+672insGCAGGGGTGAGAGGCAGAGGGTGAGGGG TGGAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGGCGGAG GGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGGTGAGAGGCGGAGGGGTGA GGGGCGCAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGGC GGAGGGTGAGGGGCAGAGGGGTGGGGGGCGGAGGGGTGGGGGGCGGAGGG GTGAGGGGCGGAGGGTGAGGGGCGCAGGGGTGAGGGGCGGAGGGGTGGGG GCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGGGCGGAGG GGTGGGGGCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGG GCGGAGGGGTGGGGGGCGGAGGGGTGAGGGGC	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2909378	T T	TGCCCCTC others(403): Show TGCCCCTCACCCCTCCGCCCCCCACCCCTCCGCCCCCACCCTCCGCCTCT CATCCCTCCGCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCCCACCCTC CGCCTCTCATCCCTCCGCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCC TCACCCCTGCGCCCCTCACCCTCCGCCCCTCACCCCTCCGCCCCCCACCC CTCCGCCCCCCACCCCTCTGCCCCTCACCCTCCGCCTCTCATCCCTCCGC CCCTCACCCCTCCGCCCCTCACCCCTGCGCCCCTCACCCCTGCGCCCCTC ACCCCTCCGCCCCCCACCCCTCCGCCCCTCACCCTCCGCCTCTCATCCCT CCGCCCCTCACCCCTCCGCCCCTCACCCCTCCACCCCTCACCCTCTGCCT CTCACCCCTGC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0297 a0001c0020t0001g0297	1	241	0.0041	410	c.326 others(427): Show c.3260+671_3260+672insGCAGGGGTGAGAGGCAGAGGGTGAGGGG TGGAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGGCGGAG GGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGGTGAGGGGCGCAGGGGTGA GGGGCGCAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGGC GGAGGGTGAGGGGCAGAGGGGTGGGGGGCGGAGGGGTGGGGGGCGGAGGG GTGAGGGGCGGAGGGTGAGGGGCGCAGGGGTGAGGGGCGGAGGGGTGGGG GCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGGGCGGAGG GGTGGGGGCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGG GCGGAGGGGTGGGGGGCGGAGGGGTGAGGGGC	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2909378	T T	TGCCCCTC others(403): Show TGCCCCTCACCCCTCCGCCCCCCACCCCTCCGCCCCCACCCTCCGCCTCT CATCCCTCCGCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCCCACCCTC CGCCTCTCATCCCTCCGCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCC TCACCCCTGCGCCCCTCACCCTCCGCCCCTCACCCCTCCGCCCCCCACCC CTCCGCCCCCCACCCCTCTGCCCCTCACCCTCCGCCTCTCATCCCTCCGC CCCTCACCCCTCTGCCCCTCACCCCTGCGCCCCTCACCCCTCCGCCTCTC ACCCCTCCGCCCCCCACCCCTCCGCCCCTCACCCTCCGCCTCTCATCCCT CCGCCCCTCACCCCTCCGCCCCTCACCCCTCCACCCCTCACCCTCTGCCT CTCACCCCTGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02257.hp2 HG02293.hp2 others(1): Show HG00639.hp1 HG02257.hp2 HG02293.hp2 HG03831.hp1	a0001 a0001	a0001c0005 a0001c0024 a0001c0005 a0001c0024	a0001c0005t0001 a0001c0024t0001 a0001c0005t0001 a0001c0024t0001	a0001c0005t0001g0144 a0001c0005t0001g0234 a0001c0005t0001g0296 others(1): Show a0001c0005t0001g0144 a0001c0005t0001g0234 a0001c0005t0001g0296 a0001c0024t0001g0240	4	244	0.0164	410	c.326 others(427): Show c.3260+671_3260+672insGCAGGGGTGAGAGGCAGAGGGTGAGGGG TGGAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGGCGGAG GGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGGTGAGAGGCGGAGGGGTGA GGGGCGCAGGGGTGAGGGGCAGAGGGGTGAGGGGCGGAGGGATGAGAGGC GGAGGGTGAGGGGCAGAGGGGTGGGGGGCGGAGGGGTGGGGGGCGGAGGG GTGAGGGGCGGAGGGTGAGGGGCGCAGGGGTGAGGGGCGGAGGGGTGGGG GCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGGGCGGAGG GGTGGGGGCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGG GCGGAGGGGTGGGGGGCGGAGGGGTGAGGGGC	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24			chr7	TogoVar
CCDC6_chr10_59783747_59911556	59882003	T T	TGGGGGGA others(403): Show TGGGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGCG GGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGA AGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAA GGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAA AGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGG CGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGG AGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAA GGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAA AGGAAAGCCGC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0055 a0002c0004t0001g0055	1	211	0.0047	410	c.303 others(429): Show c.303+24118_303+24119insGCGGCTTTCCTTTCCTTCTCCCCGCG GCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTT TCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCT TTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCC TTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCC CGCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCGG CTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTT CCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTC CTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC6_chr10_59783747_59911556	59882522	G G	GGGGAGAA others(403): Show GGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGG AGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAA GGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAA AGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGA AAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGC CGGCGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCAGG GGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGA AGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAA GGAAAGCCGGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp1 HG02602.hp2 others(3): Show HG00140.hp2 HG00741.hp1 HG02602.hp2 HG02683.hp1 HG03239.hp2 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0013 a0001c0001 a0001c0003 a0004c0013	a0001c0001t0002 a0001c0003t0003 a0004c0013t0003 a0001c0001t0002 a0001c0003t0003 a0004c0013t0003	a0001c0001t0002g0159 a0001c0003t0003g0012 a0001c0003t0003g0147 others(3): Show a0001c0001t0002g0159 a0001c0003t0003g0012 a0001c0003t0003g0147 a0001c0003t0003g0151 a0001c0003t0003g0158 a0004c0013t0003g0168	6	235	0.0255	410	c.303 others(429): Show c.303+23599_303+23600insGCCGGCTTTCCTTTCCTTCTCCCCCC GGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCC TTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTC CTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTC TCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCC GCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCG GCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTT TCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCT TTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC88A_chr2_55282842_55424856	55297381	A A	AAATATAT others(403): Show AAATATATAATATATATTATATATAAATATATAATATATATTATATATAA TATATATAATATATATAATATATATTATATATTATATATAAATATATATA ATATATATTATATAATATATATTATATATAAATATATATAATATATAATA TATATTATATATATTATATATATAATATATAATATATATTATATATAAAT ATATATAATATATAATATATATTATATATAAATATATATAATATATAATA TATATTATATATAAATATATATAATATATAATATATATTATATATAAATA TATATAATATATAATATATATTATATATAAATATATATAATATATAATAT ATATTATATATAAATATATATAATATATAATATATATTATATATAAATAT ATATAATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0030	a0001c0002t0030g0014 a0001c0002t0030g0014	1	298	0.0034	410	c.482 others(427): Show c.4826-859_4826-858insATATATTATATATATTTATATATAATAT ATATTATATATTATATATATTTATATATAATATATATTATATATTATATA TATTTATATATAATATATATTATATATTATATATATTTATATATAATATA TATTATATATTATATATATTTATATATAATATATATTATATATTATATAT ATTTATATATAATATATATTATATATTATATATATTTATATATAATATAT ATTATATATTATATATATAATATATATAATATATATTATATATTATATAT ATTTATATATAATATATATTATATAATATATATTATATATATTTATATAT AATATATAATATATATTATATATATTATATATATTATATATAATATATAT TATATATTTATATATAATATATATTATATATT	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	29/32			chr2	TogoVar
CD300A_chr17_74461634_74489794	74482697	C C	CCTTCCTT others(403): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTC TTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0244 a0002c0003t0003g0244	1	189	0.0053	410	c.774 others(425): Show c.774+867_774+868insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTCTTTCTTTCTT	CD300A	ENSG00000167851.15	transcript	ENST00000360141.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
CDH6_chr5_31188686_31334146	31191074	G G	GAAAGGCT others(403): Show GAAAGGCTTTTTTTTTTAGGCTACTTCATTACTTTAGATGCCTCAGTCAA AATTACTGGTGCTTCTCTCCTTTTACAGCTTGCAAAGTTTCAATTTCTTT TTTTTAAAAAAATCTCCTTTATAAACCATTATTAGGGATATTAATTTTGA TGAAGGATTTTCCAACTTCCACTAAATCTCTCTTCAGATGATTAAGAGGC TATCTTATCTTTATAATGGGGATGCATATAAATAAATAATTATGTTTTCT GACTTTCTTTTAGATAATACAAATCTGTATGTAATGATTACCTGATAAAA AATGTTTTCATGATCATTAACAATTATTCTTGATTAGGAGAAAAAATTCA CTTTTTAAACCATGAACTTAATTAAGAATATTGGCATCGGCAGCTCTGAT CAACCAATCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01069.hp1 HG01256.hp2 others(16): Show HG00140.hp2 HG01069.hp1 HG01256.hp2 HG01891.hp2 HG02055.hp1 HG02293.hp1 HG02300.hp2 HG02572.hp1 HG02647.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG03098.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0011 a0001c0018 a0001c0021	a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 others(15): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 a0001c0001t0022 a0001c0001t0037 a0001c0001t0038 a0001c0002t0001 a0001c0002t0002 a0001c0002t0019 a0001c0002t0028 a0001c0005t0024 a0001c0005t0066 a0001c0006t0080 a0001c0006t0081 a0001c0011t0002 a0001c0011t0062 a0001c0018t0002 a0001c0021t0012	a0001c0001t0002g0226 a0001c0001t0011g0003 a0001c0001t0012g0033 others(15): Show a0001c0001t0002g0226 a0001c0001t0011g0003 a0001c0001t0012g0033 a0001c0001t0022g0230 a0001c0001t0037g0086 a0001c0001t0038g0088 a0001c0002t0001g0235 a0001c0002t0002g0228 a0001c0002t0019g0227 a0001c0002t0028g0029 a0001c0005t0024g0087 a0001c0005t0066g0234 a0001c0006t0080g0231 a0001c0006t0081g0304 a0001c0011t0002g0030 a0001c0011t0062g0031 a0001c0018t0002g0233 a0001c0021t0012g0267	19	336	0.0565	410	c.-29 others(421): Show c.-2941_-2940insAAAGGCTTTTTTTTTTAGGCTACTTCATTACTTT AGATGCCTCAGTCAAAATTACTGGTGCTTCTCTCCTTTTACAGCTTGCAA AGTTTCAATTTCTTTTTTTTAAAAAAATCTCCTTTATAAACCATTATTAG GGATATTAATTTTGATGAAGGATTTTCCAACTTCCACTAAATCTCTCTTC AGATGATTAAGAGGCTATCTTATCTTTATAATGGGGATGCATATAAATAA ATAATTATGTTTTCTGACTTTCTTTTAGATAATACAAATCTGTATGTAAT GATTACCTGATAAAAAATGTTTTCATGATCATTAACAATTATTCTTGATT AGGAGAAAAAATTCACTTTTTAAACCATGAACTTAATTAAGAATATTGGC ATCGGCAGCTCTGATCAACCAATCCA	CDH6	ENSG00000113361.13	transcript	ENST00000265071.3	protein_coding		2611		chr5	TogoVar
CDH8_chr16_61642250_62041438	61960348	T T	TATGTGTG others(403): Show TATGTGTGTATACACACATATATACATATGTGTGTGTATACACACACACA TATGTATATATGTATGTGCATACACACACATATATGTATATATGTATGTG CATACACACACACACATGTATATATGTATGTGTATACACATACATATATA CATATGTGTGTGTATACACATACATATATACATGTGTGTGTGTGTATGCA CATACACATATACATATATGTGTGTGTATACACATACATATATACATATG TGTGTATACACACATATATACATATGTGTGTATACACATACATATATACA TATGTGTGTATACACACATATATACATGTGTGTGTATACACATACATATA TACATGTGTGTGTATACACATACATATATACATGTGTGTGTGTATACACA TACATATATAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0019 a0001c0001t0033g0019	1	148	0.0068	410	c.253 others(429): Show c.253-58876_253-58875insGTATATATGTATGTGTATACACACAC ACATGTATATATGTATGTGTATACACACACATGTATATATGTATGTGTAT ACACACACATGTATATATGTGTGTATACACACATATGTATATATGTATGT GTATACACACATATGTATATATGTGTGTATACACACATATGTATATATGT ATGTGTATACACACACATATATGTATATGTGTATGTGCATACACACACAC ACATGTATATATGTATGTGTATACACACACATATGTATATATGTATGTGT ATACACATACATATATACATGTGTGTGTGTGTATGCACATACATATATAC ATATATGTGTGTGTATGCACATACATATATACATATGTGTGTGTGTATAC ACACACATATGTATATATGTGTGTATACACACAT	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61960348	T T	TATGTGTG others(403): Show TATGTGTGTATACGCACATATATACATATGTGTGTGTATACACACACACA TATGTATATATGTATGTGCATACACACACATATATGTATATATGTATGTG CATACACACACACACATGTATATATGTATGTGTATACACATACATATATA CATATGTGTGTGTATACACATACATATATACATGTGTGTGTGTGTATGCA CATACACATATACATATATGTGTGTGTATACACATACATATATACATATG TGTGTATACACACATATATACATATGTGTGTATACACATACATATATACA TATGTGTGTATACACACATATATACATGTGTGTGTATACACATACATATA TACATGTGTGTGTATACACATACATATATACATGTGTGTGTGTATACACA TACATATATAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0010 a0003c0004t0010	a0003c0004t0010g0017 a0003c0004t0010g0017	1	148	0.0068	410	c.253 others(429): Show c.253-58876_253-58875insGTATATATGTATGTGTATACACACAC ACATGTATATATGTATGTGTATACACACACATGTATATATGTATGTGTAT ACACACACATGTATATATGTGTGTATACACACATATGTATATATGTATGT GTATACACACATATGTATATATGTGTGTATACACACATATGTATATATGT ATGTGTATACACACACATATATGTATATGTGTATGTGCATACACACACAC ACATGTATATATGTATGTGTATACACACACATATGTATATATGTATGTGT ATACACATACATATATACATGTGTGTGTGTGTATGCACATACATATATAC ATATATGTGTGTGTATGCACATACATATATACATATGTGTGTGTGTATAC ACACACATATGTATATATGTGCGTATACACACAT	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(403): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTT CCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCC CTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCT CCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	8	0.1250	410	c.69 others(421): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCT TATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACC CTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCC CCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(403): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTT CCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCC CTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCT CCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG02717.hp1 HG03704.hp1 others(3): Show HG00609.hp1 HG02717.hp1 HG03704.hp1 NA18945.hp2 NA18971.hp2 NA19056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0021 a0001c0002t0001g0058 a0001c0002t0001g0001 a0001c0002t0001g0021 a0001c0002t0001g0058	6	13	0.4615	410	c.69 others(421): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCT TATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCC CTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCC CCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CNOT1_chr16_58514951_58634826	58586394	C C	CAGGGGGA others(403): Show CAGGGGGAGGGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGG GAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGG AAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGA AGGGCAGGGGAGGGGGAGGGGGACTGGAGGGGAGGGGACGGGAGGGGGGA GGGGGAGGGGAGGGGGACTGGAGGGGAGGGGAGGGGAAGGGGAAGGGAAG GGGAGGGGAAGGGGATGGGAGGGGAAGGGGAGGAGAGGGAGAGGGGAAGG GGAGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGAAGGGGAGGGAAGGGGA GGGAAGGGGAGGGAAGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAAGGGG AGGGGAGGGGA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	189	0.0053	410	c.637 others(425): Show c.637+150_637+151insTCCCCTCCCCTCCCCTTCCCCTCCCCTCCC CTCCCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCC CTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCC TCCCCTTCCCCTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCT CCCCTCCCCTCCAGTCCCCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCTC CCCTCCAGTCCCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGC CCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCTTCCCCTCCC CCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCC CTCCCCTTCCCCTCCCCCTCCCCTCCCCCT	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
COL19A1_chr6_69861556_70217468	69920971	T T	TATATATG others(403): Show TATATATGATATATATCATATATACATATGATATATACATGATATATATG ATATATATGATACATATGATATATATGATATATATGATACATATGATATA TATGATATATATATGATACAAATGATATATATGATATATATATGATACAA ATGATATATATGATATATATGATATATATCAGATATATATCATATATATC ATTTGTATCATATATATATCATATATATCATATGTATCATATATATCATG TATATATCATATATATCATATATATCATATATGTATTCATATATATCATA TATATTCATATATAATATATATTCATATATCATATATATTCATATATATC ATATATATTCATATATATATCATATATATTCATATATATCATATATATTC ATATATATATC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0039 a0002c0003t0039	a0002c0003t0039g0127 a0002c0003t0039g0127	1	129	0.0078	410	c.267 others(427): Show c.267-6936_267-6935insATATGATATATATCATATATACATATGA TATATACATGATATATATGATATATATGATACATATGATATATATGATAT ATATGATACATATGATATATATGATATATATATGATACAAATGATATATA TGATATATATATGATACAAATGATATATATGATATATATGATATATATCA GATATATATCATATATATCATTTGTATCATATATATATCATATATATCAT ATGTATCATATATATCATGTATATATCATATATATCATATATATCATATA TGTATTCATATATATCATATATATTCATATATAATATATATTCATATATC ATATATATTCATATATATCATATATATTCATATATATATCATATATATTC ATATATATCATATATATTCATATATATATCAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL19A1_chr6_69861556_70217468	69920971	T T	TATATATG others(403): Show TATATATGATATATATCATATATACATATGATATATACATGATATATATG ATATATATGATACATATGATATATATGATATATATGATACATATGATATA TATGATATATATATGATACAAATGATATATATGATATATATATGATACAA ATGATATATATGATATATCTGATATATATCAGATATATATCATATATATC ATTTGTATCATATATATATCATATATATCATATGTATCATATATATCATG TATATATCATATATATCATATATATCATATATGTATTCATATATATCATA TATATTCATATATAATATATATTCATATATCATATATATTCATATATATC ATATATATTCATATATATATCATATATATTCATATATATCATATATATTC ATATATATATC	intron_variant intron_variant	MODIFIER	HG01069.hp2 NA20129.hp2 HG01069.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0040 a0001c0008t0014 a0001c0002t0040 a0001c0008t0014	a0001c0002t0040g0132 a0001c0008t0014g0136 a0001c0002t0040g0132 a0001c0008t0014g0136	2	130	0.0154	410	c.267 others(427): Show c.267-6936_267-6935insATATGATATATATCATATATACATATGA TATATACATGATATATATGATATATATGATACATATGATATATATGATAT ATATGATACATATGATATATATGATATATATATGATACAAATGATATATA TGATATATATATGATACAAATGATATATATGATATATCTGATATATATCA GATATATATCATATATATCATTTGTATCATATATATATCATATATATCAT ATGTATCATATATATCATGTATATATCATATATATCATATATATCATATA TGTATTCATATATATCATATATATTCATATATAATATATATTCATATATC ATATATATTCATATATATCATATATATTCATATATATATCATATATATTC ATATATATCATATATATTCATATATATATCAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL5A3_chr19_9954561_10015504	9970058	T T	TGTGGGTG others(403): Show TGTGGGTGAGTGGGGTCTTTGGGGTGAGGTGGGGTGTGTGGATGAGTGGG GTCTGTGGTTGACTGAGGTCTGTGGGGTGAGTGGAATCTGTGGGTGAGTG GGGTCTGTGGGTGAGTGTGTTCTGTGGCTGAGTGGGGTCTGTGGGGTAAG CGGGGGCTGTGGGGTGAGTGGGGTCTGTGGGGTGAGTGGGGGCTGTGGGG TGAGTGGGGGCTGTGGGTGAGTGTGCTCTGTGGCTGAGTGGGGTCTGTGG GGTAAGCGGGGTCTGTGGGGTGAGTGGGGTCTGTGGGGTGAGTGGGGGCT GTGGGGTGAGTGGGGTCTGTGGGGTAAGCGGGGGCTGTGGGGTGAGTGGG GTCTGTGGGGTGAGTGGGGGCTGTAAGGTGAGTGGGGTCTGTGGGGTGAG TGGGGTCTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0021 a0021	a0021c0030 a0021c0030	a0021c0030t0002 a0021c0030t0002	a0021c0030t0002g0224 a0021c0030t0002g0224	1	381	0.0026	410	c.393 others(427): Show c.3937-137_3937-136insCACAGACCCCACTCACCCCACAGACCCC ACTCACCTTACAGCCCCCACTCACCCCACAGACCCCACTCACCCCACAGC CCCCGCTTACCCCACAGACCCCACTCACCCCACAGCCCCCACTCACCCCA CAGACCCCACTCACCCCACAGACCCCGCTTACCCCACAGACCCCACTCAG CCACAGAGCACACTCACCCACAGCCCCCACTCACCCCACAGCCCCCACTC ACCCCACAGACCCCACTCACCCCACAGCCCCCGCTTACCCCACAGACCCC ACTCAGCCACAGAACACACTCACCCACAGACCCCACTCACCCACAGATTC CACTCACCCCACAGACCTCAGTCAACCACAGACCCCACTCATCCACACAC CCCACCTCACCCCAAAGACCCCACTCACCCAC	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
CPNE7_chr16_89570758_89602246	89588117	G G	GCCCCCGT others(403): Show GCCCCCGTGTCAGCCACAGATACACGGCCCCCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCACAGATACATGGCCCCCCGTGTCACCCGCGTGT CACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGAAA CACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGT GTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGAT ACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGT GTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACATGGCCCCC CGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCATGTCACCCAC AGATACACGGC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	249	0.0040	410	c.928 others(425): Show c.928-547_928-546insGCCACAGATACACGGCCCCCGTGTCACCCA CAGATACACGGCCCCCGTGTCACCCACAGATACATGGCCCCCCGTGTCAC CCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACC CACAGAAACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACG GCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCAC CCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTC ACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACA TGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCATG TCACCCACAGATACACGGCCCCCCGTGTCA	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAJC13_chr3_132412502_132544032	132470610	G G	GGGGGGGG others(403): Show GGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCTGG GCCGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCCGACACCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0003 a0005c0008t0003	a0005c0008t0003g0244 a0005c0008t0003g0244	1	316	0.0032	410	c.220 others(429): Show c.2209-2529_2209-2528insGCTGACCCCCCCCACCTCCCTCCCGG ACGGGGTGGCTGGCTGGGCCGGGGGCTGACACCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGG GGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG	DNAJC13	ENSG00000138246.17	transcript	ENST00000260818.11	protein_coding	20/55		INFO_REALIGN_3_PRIME	chr3	TogoVar
DNAJC25_chr9_111626334_111659345	111641675	G G	GGGGGGGG others(403): Show GGGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCACCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGTTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0060 a0001c0001t0006g0060	1	291	0.0034	410	c.337 others(427): Show c.337-5294_337-5293insGTCAGCCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG TTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG GTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GGGTCAGCCCCCCTGCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG	DNAJC25	ENSG00000059769.20	transcript	ENST00000313525.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAJC25_chr9_111626334_111659345	111642015	G G	GCCCCGTC others(403): Show GCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCTGCCCGGCCAG CCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGC CCGGCCAGCCA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0137 a0001c0001t0004g0137	1	343	0.0029	410	c.337 others(427): Show c.337-5078_337-5077insGAGGTGGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCTGCC CGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCC CCCCTGCCCGGCCAGCCACCCCGTCCGGGAGG	DNAJC25	ENSG00000059769.20	transcript	ENST00000313525.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400472	C C	CCACCTCC others(403): Show CCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACC ACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCAT CTTCACCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCA CCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACC ACCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCAC CTCCACCATCACCATCACCACCACCTCCACCATCACCACCTCCTCCACCA TCACCACCACCTCCACCACCACCACCTCCCCCACTACCAACAGCTCCTTC ACCATCACCACAACATCCACCACCACCATCACCACCACCACCACCACCTC CTCCACCATCA	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA19079.hp1 HG01081.hp1 NA19079.hp1	a0002 a0006 a0002 a0006	a0002c0005 a0006c0025 a0002c0005 a0006c0025	a0002c0005t0001 a0006c0025t0001 a0002c0005t0001 a0006c0025t0001	a0002c0005t0001g0109 a0006c0025t0001g0184 a0002c0005t0001g0109 a0006c0025t0001g0184	2	69	0.0290	410	c.323 others(429): Show c.3234+1214_3234+1215insACCTCCACCATCACCACCACCTCCAC CATCACCACCACCACCTCCACCACCATCACCACCACCTCCACCATCACCA CCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACC ACCACCACCTCCACCATCACCACCACCACCTCCACCACCACCAGCATCTT CACCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCA CCACCTCCACCATCACCACCACCTCCACCATCACCATCACCACCACCTCC ACCATCACCACCTCCTCCACCATCACCACCACCTCCACCACCACCACCTC CCCCACTACCAACAGCTCCTTCACCATCACCACAACATCCACCACCACCA TCACCACCACCACCACCACCTCCTCCACCATCAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPYSL2_chr8_26509031_26663175	26556265	A A	ATATATAC others(403): Show ATATATACTATATATATAGTATATATATAGTATATATATAGTATATATAT AGTATATATATAGTATATATATAGTATATATATACTATATATATAGTATA TATATATAGTATATATATAGTATATATATAGTATATATATAGTATATATA TAGTATATATATAGTATATATATAGTATATATATATAGTATATATATAGT ATATATATAGTATATATATATAGTATATATATAGTATATATATATAGTAT ATATATAGTATATATATATAGTGTATATATATAGTATATATATATAGTGT ATATATATAGTATATATATAGTATATATATAGTATATATAGTATATATGT ATATATATATAGTATATATATAGTATATATATATAGTATATATATAGTAT ATATATATAGT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	169	0.0059	410	c.355 others(429): Show c.355-25704_355-25703insTATATACTATATATATAGTATATATA TAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTAT ATATATACTATATATATAGTATATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTA TATATATATAGTATATATATAGTATATATATAGTATATATATATAGTATA TATATAGTATATATATATAGTATATATATAGTATATATATATAGTGTATA TATATAGTATATATATATAGTGTATATATATAGTATATATATAGTATATA TATAGTATATATAGTATATATGTATATATATATAGTATATATATAGTATA TATATATAGTATATATATAGTATATATATATAGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
EGFL7_chr9_136657916_136677678	136675317	C C	CAGGGGGC others(403): Show CAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCC AGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAG GCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGAC TGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAG GGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGG GGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCA GGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTG GGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGG AGCAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0001 a0001c0001t0008g0001	1	265	0.0038	410	c.30 others(421): Show c.3031_*3032insAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCA GGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAG GGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGC AGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCT GGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGG GAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGGAGCAGGGAGGG	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2640		chr9	TogoVar
EGFL7_chr9_136657916_136677678	136675347	C C	CAGCAGGG others(403): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGC AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGA GGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAG CAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGC TGGGGACTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0018	1	345	0.0029	410	c.30 others(421): Show c.3061_*3062insAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGG GACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAG CAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGG AGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCA GCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGG CTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACT GGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGG GAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGG GGCCAGCAGGTAGGCTGGGGACTGGG	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2670		chr9	TogoVar
EGFL7_chr9_136657916_136677678	136675347	C C	CAGCAGGG others(403): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGC AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGA GGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAG CAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGC TGGGGACTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	345	0.0029	410	c.30 others(421): Show c.3061_*3062insAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGG GACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAG CAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGG AGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCA GCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGG CTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACT GGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGG GAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGG GGCCAGCAGGTAGGCTGGGGACTGGG	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2670		chr9	TogoVar
EGFL7_chr9_136657916_136677678	136675347	C C	CAGCAGGG others(403): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGC AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGA GGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAG CAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGC TGGGGACTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	345	0.0029	410	c.30 others(421): Show c.3061_*3062insAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGG GACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAG CAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGG AGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCA GCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGG CTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACT GGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGG GAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGG GGCCAGCAGGTAGGCTGGGGACTGGG	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2670		chr9	TogoVar
EGFL7_chr9_136657916_136677678	136675429	C C	CAGCAGGG others(403): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGC AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGA GGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAG CAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGC TGGGGACTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0087 a0002c0002t0006g0087	1	177	0.0056	410	c.31 others(421): Show c.3143_*3144insAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGG GACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAG CAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGG AGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCA GCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGG CTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACT GGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGG GAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGG GGCCAGCAGGTAGGCTGGGGACTGGG	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2752		chr9	TogoVar
EVA1C_chr21_32407706_32520387	32477700	A A	ACCTCCCC others(403): Show ACCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCC CCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTC ACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCACCTCCC CCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCTC CCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCCCCTCCC CCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACG CCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCC CTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCC GTACGCCCTCC	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0001 a0010c0019t0001	a0010c0019t0001g0223 a0010c0019t0001g0223	1	295	0.0034	410	c.634 others(427): Show c.634+9913_634+9914insACCTCCCCCGTACGCCCTCCCCTCCCCC GTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCC CTCACCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCC GTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCC CTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCT CCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCC CTCCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCT CCCCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGT ACGCCCTCCCCTCCCCTCCCCCGTACGCCCTC	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
FAM118A_chr22_45304934_45346955	45328367	C C	CCTGGACT others(403): Show CCTGGACTTGAAGGACAAGACCAAGGTGTGGGCTGGGGGTGCGGGAGGCC TTTGGCCGGCAGCAGAACAAGCCCATGGAGTCCCTGGACTTGAAGGACAA GACCAAGGTACGGGCTGGGGGTGCGGGAGGCCTTTGGCCGGCAGCAGAAC AAGCCCATGGAGTCTCTGGACTTGAAGGACAAGACCAAGGTGTGGGCTGG GGGTGCGGGAGGCCTTTGGCCGGCGGAAGAACAAGCCCATGGAGTCTCTG GACTTGAAGGACAAGACCAAGGTGTGGGCTGGGGGTGCGGGAGGTCTTTG GCCGGCAGCAGAACAAGCCCATGGAGTCTCTGGACTTGAAGGACAAGACC AAGGTGTGGGCTGGGGGTGCGGGAGGTCTTTGGCCGGCAGCAGAACAAGC CCATGGAGTCT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0156 a0002c0002t0002g0156	1	290	0.0034	410	c.522 others(425): Show c.522+341_522+342insGTGCGGGAGGCCTTTGGCCGGCAGCAGAAC AAGCCCATGGAGTCCCTGGACTTGAAGGACAAGACCAAGGTACGGGCTGG GGGTGCGGGAGGCCTTTGGCCGGCAGCAGAACAAGCCCATGGAGTCTCTG GACTTGAAGGACAAGACCAAGGTGTGGGCTGGGGGTGCGGGAGGCCTTTG GCCGGCGGAAGAACAAGCCCATGGAGTCTCTGGACTTGAAGGACAAGACC AAGGTGTGGGCTGGGGGTGCGGGAGGTCTTTGGCCGGCAGCAGAACAAGC CCATGGAGTCTCTGGACTTGAAGGACAAGACCAAGGTGTGGGCTGGGGGT GCGGGAGGTCTTTGGCCGGCAGCAGAACAAGCCCATGGAGTCTCTGGACT TGAAGGACAAGACCAAGGTGTGGGCTGGGG	FAM118A	ENSG00000100376.12	transcript	ENST00000441876.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
FBRSL1_chr12_132485151_132590188	132552791	T T	TGGAGGCC others(403): Show TGGAGGCCCCTGCCGTGGACACTCACCCCGCAGGACAGACAGAAGGACGG ATGGACGGCTGGACAGGCTGGAGGCCCCTGCCATGGGCACTCACCCCGTG GGACAGACAGAAGGATGGATGGACGGTTGGACAGGCTGGAGGCCCCTGCC TTGGGGCACTCACCCCGCAGGATGGACAGAAGGGCGGATGGATGGCTGGA CAGGCTGGAGGCCCCTGCTATGGGGCACTCACCCCACGGGACAGACAAAG GATGGATGGACAGCTGGACAGGCTGGAGGCCCCTGCCATGGGCACTCACC CCGCGGGACAGACAGAAGGACGGATGGACGGCTGGACAGGCTGGAGGCCC CTTCCATGGGGCACTCACCCCGTGCGACAGACAGAAGGACGGATGGACGG CTGGACGGGCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0050 a0002c0050	a0002c0050t0002 a0002c0050t0002	a0002c0050t0002g0087 a0002c0050t0002g0087	1	346	0.0029	410	c.645 others(427): Show c.645+4840_645+4841insATGGGCACTCACCCCGTGGGACAGACAG AAGGATGGATGGACGGTTGGACAGGCTGGAGGCCCCTGCCTTGGGGCACT CACCCCGCAGGATGGACAGAAGGGCGGATGGATGGCTGGACAGGCTGGAG GCCCCTGCTATGGGGCACTCACCCCACGGGACAGACAAAGGATGGATGGA CAGCTGGACAGGCTGGAGGCCCCTGCCATGGGCACTCACCCCGCGGGACA GACAGAAGGACGGATGGACGGCTGGACAGGCTGGAGGCCCCTTCCATGGG GCACTCACCCCGTGCGACAGACAGAAGGACGGATGGACGGCTGGACGGGC CGGAGGCCCCTGCCGTGGACACTCACCCCGCAGGACAGACAGAAGGACGG ATGGACGGCTGGACAGGCTGGAGGCCCCTGCC	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(403): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTC TCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTT CCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCAC CTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCATTCCCCC CTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCT TCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTC CCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCC CCTTCCCCCTCCCCTCCTTCCCCTTTCCACCTTCCCCCTCCCCTCCTTCC CCCTTCCCCCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	102	0.0098	410	c.972 others(425): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCAC CTCCCCTTCCCCCCACCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACC TTCCCCTCATTCCCCCCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCC TCCTTCCCCATCCTCTTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTC CCCCTTCCCCTCCTTCCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCC TGTCCCCCTCCTTCCCCCTTCCCCCTCCCCTCCTTCCCCTTTCCACCTTC CCCCTCCCCTCCTTCCCCCTTCCCCCCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(403): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTC TCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTT CCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCAC CTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCATTCCCCC CTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCT TCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTC CCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCC CCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCC CCCTTCCCCCC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01168.hp2 HG01169.hp2 HG01071.hp1 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0275	3	104	0.0288	410	c.972 others(425): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCAC CTCCCCTTCCCCCCACCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACC TTCCCCTCATTCCCCCCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCC TCCTTCCCCATCCTCTTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTC CCCCTTCCCCTCCTTCCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCC TGTCCCCCTCCTTCCCCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTC CCCCTCCCCTCCTTCCCCCTTCCCCCCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GTPBP6_chrX_299759_323796	315685	T T	TACACACG others(403): Show TACACACGCAGACACACACACACACACACACACACACACAGTAAATACAT CCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAG TAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACA CACACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGAC ACACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACA CAAACACATACACACGCAGACACACACACACACACACAAACACACAGTAA ATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAG AGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATA CACACGCAGAC	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA19062.hp1 NA18993.hp2 NA19062.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0081 a0003c0004t0002g0097 a0003c0004t0002g0081 a0003c0004t0002g0097	2	32	0.0625	410	c.488 others(425): Show c.488-387_488-386insGTCTGCGTGTGTATGTGTTTGTGTCCCTGC CAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTG TGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGT GTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGT TTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTC GGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGT ATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTC TGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGT GTGTGTGTGTGTGTGTGTGTCTGCGTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
GTPBP6_chrX_299759_323796	315685	T T	TACACACG others(403): Show TACACACGCAGACACACACACACACACACACACACACAGTAAATACATCC CGACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTA AACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACA CACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACAC ACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACA AACACATACACACGCAGACACACACACACACACACAAACACACAGTAAAT ACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAG ACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACA CACGCAGACAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp2 HG02109.hp1 HG02451.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0002 a0006c0009t0001g0002	2	32	0.0625	410	c.488 others(425): Show c.488-387_488-386insGTGTCTGCGTGTGTATGTGTTTGTGTCCCT GCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTG TGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGT GTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGT GTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTG TCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGT GTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTC TCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGT GTGTGTGTGTGTGTGTGTGTCTGCGTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
IDE_chr10_92446684_92579093	92524325	T T	TATTATAT others(403): Show TATTATATTATATATAATATATTTTATATAATATATAATATATATTATAT TATATATAATATATTTTATATAATATATAATATATATTATATTATATATA ATATATTTTATATAATATATAATATATATTATATTATATATAATATATTT TATATAATATATAATATATATTATATTATATATAATATATTTTATATAAT ATATAATATATATTATATTATATATAATATATATTATATAATATATAATA TATATTATATTATATATAATATATTTTATATAATATATAATATATATTAT ATTATATATAATATATTTTATATAATATATAATATATATTATATTATATA TAATATATTTTATATAATATATAATATATATTATATTATATATAATATAT TTTATATAATA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0311 a0001c0001t0013g0311	1	251	0.0040	410	c.661 others(427): Show c.661+7422_661+7423insTATTATATAAAATATATTATATATAATA TAATATATATTATATATTATATAAAATATATTATATATAATATAATATAT ATTATATATTATATAAAATATATTATATATAATATAATATATATTATATA TTATATAAAATATATTATATATAATATAATATATATTATATATTATATAA TATATATTATATATAATATAATATATATTATATATTATATAAAATATATT ATATATAATATAATATATATTATATATTATATAAAATATATTATATATAA TATAATATATATTATATATTATATAAAATATATTATATATAATATAATAT ATATTATATATTATATAAAATATATTATATATAATATAATATATATTATA TATTATATAAAATATATTATATATAATATAAT	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24			chr10	TogoVar
IDE_chr10_92446684_92579093	92524325	T T	TATTATAT others(403): Show TATTATATTATATATAATATATTTTATATAATATATAATATATATTATAT TATATATAATATATTTTATATAATATATAATATATATTATATTATATATA ATATATTTTATATAATATATAATATATATTATATTATATATAATATATTT TATATAATATATAATATATATTATATTATATATAATATATTTTATATAAT ATATAATATATATTATATTATATATAATATATTTTATATAATATATAATA TATATTATATTATATATAATATATTTTATATAATATATAATATATATTAT ATTATATATAATATATTTTATATAATATATAATATATATTATATTATATA TAATATATTTTATATAATATATAATATATATTATATTATATATAATATAT TTTATATAATA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18966.hp2 NA18973.hp2 others(7): Show NA18961.hp2 NA18966.hp2 NA18973.hp2 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19085.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0267 a0001c0001t0002g0269 others(5): Show a0001c0001t0002g0001 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0275 a0001c0001t0002g0278 a0001c0001t0002g0282 a0001c0001t0002g0289 a0001c0001t0002g0290	10	260	0.0385	410	c.661 others(427): Show c.661+7422_661+7423insTATTATATAAAATATATTATATATAATA TAATATATATTATATATTATATAAAATATATTATATATAATATAATATAT ATTATATATTATATAAAATATATTATATATAATATAATATATATTATATA TTATATAAAATATATTATATATAATATAATATATATTATATATTATATAA AATATATTATATATAATATAATATATATTATATATTATATAAAATATATT ATATATAATATAATATATATTATATATTATATAAAATATATTATATATAA TATAATATATATTATATATTATATAAAATATATTATATATAATATAATAT ATATTATATATTATATAAAATATATTATATATAATATAATATATATTATA TATTATATAAAATATATTATATATAATATAAT	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24			chr10	TogoVar
IFNAR1_chr21_33319970_33364864	33322912	T T	TATATATA others(403): Show TATATATATGGAATATATATATACGGAATGTATATATAATATATATACGG AATATATATATACGGAATGTATATATAATATATATACGGAATATATATAT ACGGAATGTATATATAATATATATACGGAATATATATATACGGAATGTAT ATATACGGAATATATATACGGAATGTATATATGGAACATATATACGGAAT ATATATATATGGAACATATATATGTGGAACATATATATGTGGAACATATA TATGTGGAACATATATATGTGGAACATATATATGGAAAATATATACGTGG AATATATATATGGAAAATATATACGTGGAATATATATATGGAAAATATAT ACGTGGAATATATATATGGAAAATATATACGTGGAATATATATATGGAAA ATATACGTGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0017 a0003c0003t0017	a0003c0003t0017g0131 a0003c0003t0017g0131	1	271	0.0037	410	c.-21 others(421): Show c.-2144_-2143insATATATATGGAATATATATATACGGAATGTATAT ATAATATATATACGGAATATATATATACGGAATGTATATATAATATATAT ACGGAATATATATATACGGAATGTATATATAATATATATACGGAATATAT ATATACGGAATGTATATATACGGAATATATATACGGAATGTATATATGGA ACATATATACGGAATATATATATATGGAACATATATATGTGGAACATATA TATGTGGAACATATATATGTGGAACATATATATGTGGAACATATATATGG AAAATATATACGTGGAATATATATATGGAAAATATATACGTGGAATATAT ATATGGAAAATATATACGTGGAATATATATATGGAAAATATATACGTGGA ATATATATATGGAAAATATACGTGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2057		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323559	A A	AATATATA others(403): Show AATATATATATATGGAATATATATGTGGAATATATATATATGGAATATAT ATGTGGAATATATATATATGGAATATATATGTGGAATATATATATATGGA ATATATATGTGGAATATATATATGGAATATATATGTGGAATATATATATG GAATATATATGTGGAATATATATATATGGAATATATATGTGGAATATATA TATATGGAATATATATGTGGAATATATATATATGGAATATATATGTGGAA TATATATATATGGAATATATATGTGGAATATATATATATGGAATATATAT GTGGAATATATATATATGGAATATATATGTGGAATATATATATATGGAAT ATATGTGGAATATATATATATGGAATATATGTGGAATATATATATGGAAT ATATGTGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0127 a0001c0001t0041g0127	1	228	0.0044	410	c.-14 others(421): Show c.-1497_-1496insATATATATATATGGAATATATATGTGGAATATAT ATATATGGAATATATATGTGGAATATATATATATGGAATATATATGTGGA ATATATATATATGGAATATATATGTGGAATATATATATGGAATATATATG TGGAATATATATATGGAATATATATGTGGAATATATATATATGGAATATA TATGTGGAATATATATATATGGAATATATATGTGGAATATATATATATGG AATATATATGTGGAATATATATATATGGAATATATATGTGGAATATATAT ATATGGAATATATATGTGGAATATATATATATGGAATATATATGTGGAAT ATATATATATGGAATATATGTGGAATATATATATATGGAATATATGTGGA ATATATATATGGAATATATGTGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1410		chr21	TogoVar
INPP5A_chr10_132532787_132788480	132622895	C C	CGTTCGTG others(403): Show CGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAA ATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAA CTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACG TGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTA CGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGA CTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGA TTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCG TTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAAT ATACCGTCCGT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	22	0.0455	410	c.117 others(429): Show c.117+14996_117+14997insCGTTCGTGGATTGGAAGACTCAGTTA CGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGA CTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGA TTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCG TTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAAT ATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACT TGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTG TTAGAACTTGAGAAATATACCGTCCGTGTTCGTGGATTGGAAGACTCAGT TACGCTGACGTGTTAGAACTTGAGAAATATACCG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132775111	G G	GGAGGGGC others(403): Show GGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGG GCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGG GGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGA GATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAG GGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGG CAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGA GAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAT GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGG CAGGGAGGAGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0019 a0001c0005t0019	a0001c0005t0019g0035 a0001c0005t0019g0035	1	196	0.0051	410	c.978 others(427): Show c.978-2547_978-2546insAGAGGGGCAGGGAGGAGAGAGGGGCAGG GAGGAGGGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGA GGGGCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAG GGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGA GGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGA GAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAG GGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGA GGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
IQSEC3_chr12_61767_183455	163376	C C	CCACAGAA others(403): Show CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCC CCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACC CCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTC CACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACTGGACCCCTC CCCTGTCCCCT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02572.hp2 HG03041.hp1 others(2): Show HG01167.hp2 HG02572.hp2 HG03041.hp1 HG03579.hp1 NA18906.hp1	a0003 a0006 a0003 a0006	a0003c0005 a0006c0013 a0003c0005 a0006c0013	a0003c0005t0002 a0003c0005t0009 a0006c0013t0001 a0003c0005t0002 a0003c0005t0009 a0006c0013t0001	a0003c0005t0002g0254 a0003c0005t0009g0009 a0003c0005t0009g0055 others(2): Show a0003c0005t0002g0254 a0003c0005t0009g0009 a0003c0005t0009g0055 a0006c0013t0001g0253 a0006c0013t0001g0255	5	123	0.0407	410	c.258 others(427): Show c.2584-107_2584-106insAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGG AGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCC CTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCC CTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCACA GAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCT CTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAAC TGGACCCCTCCCCTGTCCCCTCACAGAACCGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	163376	C C	CCACAGAA others(403): Show CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCC CCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACC CCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTC CACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACTGGACCCCTC CCCTGTCCCCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18522.hp1 HG01891.hp1 NA18522.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0009 a0002c0001t0009	a0002c0001t0009g0064 a0002c0001t0009g0194 a0002c0001t0009g0064 a0002c0001t0009g0194	2	120	0.0167	410	c.258 others(427): Show c.2584-107_2584-106insAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCC CTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCC CTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCACA GAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCT CTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAAC TGGACCCCTCCCCTGTCCCCTCACAGAACCGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar

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