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
CCSER2_chr10_84323589_84523517	84501835	A A	AAATATAT others(177): Show AAATATATATATATATATATATACTCATATATATATATATACTCATATAT ATATATATATATACTCATATATATATATATACTCATATATATATATACTC ATATATATATATACTCATATATATATATATATATATACTCATATATATAT ATATATATACTCATATATATATATATATATATACT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0045 a0003c0004t0007g0045	1	370	0.0027	184	c.232 others(205): Show c.2326-11614_2326-11613insAATATATATATATATATATATACT CATATATATATATATACTCATATATATATATATATATACTCATATATATA TATATACTCATATATATATATACTCATATATATATATACTCATATATATA TATATATATATACTCATATATATATATATATATACTCATATATATATATA TATATATACT	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9			chr10	TogoVar
CD247_chr1_167425640_167523529	167434947	C C	CTCCTCCA others(177): Show CTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCT TCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCTGGAGCCC TCCTCCAGCCCTTCCTCCAGCCCTCCTCCGGAGCCCTCCTCCAGCCCTTC CTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03195.hp2 HG02970.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0096 a0001c0001t0005g0356 a0001c0001t0005g0096 a0001c0001t0005g0356	2	374	0.0054	184	c.336 others(199): Show c.336+451_336+452insAGGGCTGGAGGAGGGCTCCGGAGGAAGGGC TGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAGGGCTGGAGGAAGGGCTG GAGGAGGGCTCCAGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCG GAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGG AGGA	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7			chr1	TogoVar
CD247_chr1_167425640_167523529	167434959	T T	TTCCTCCG others(177): Show TTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCC CTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCT TCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTT CCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0058 a0001c0002t0001g0058	1	374	0.0027	184	c.336 others(199): Show c.336+439_336+440insGGGCTGGAGGAAGGGCTGGAGGAGGGCTCC GGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTG GAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGG AGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGG AGGA	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7			chr1	TogoVar
CD300A_chr17_74461634_74489794	74482697	C C	CCTTCCTT others(177): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0115 a0001c0002t0006g0115	1	424	0.0024	184	c.774 others(199): Show c.774+867_774+868insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTT	CD300A	ENSG00000167851.15	transcript	ENST00000360141.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(177): Show TATATACACACGTGTGTATATACGTATATACACACGTGTGTATATACGTA TATACACACGTGTGTATATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTG TATACGCATACACACACATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG03516.hp1 HG00642.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0005 a0001c0001t0004g0005 a0001c0001t0001g0005 a0001c0001t0004g0005	2	442	0.0045	184	c.27 others(195): Show c.2768_*2769insATATACACACGTGTGTATATACGTATATACACAC GTGTGTATATACGTATATACACACGTGTGTATATACGCATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACATATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD81_chr11_2372310_2402397	2385620	T T	TGTGGCGT others(177): Show TGTGGCGTGCCTGTTGTCTGTGTGGCATGCCTGTCGTCTGTGCACCCGTG CTGTGGCGTGCCTGTTGTCTGTGTGGCATGCCTGTCGTCTGTGCACCCAT GCTGTGGCGTGCCTGTTGTCTGTGTGGCATGCCTGTCGTCTGTGCACCCG TGCTGTGGCGTGCCCGTCGTCTGTGCACCCGTGCC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0064 a0001c0002t0002g0064	1	388	0.0026	184	c.67- others(199): Show c.67-4782_67-4781insTGTTGTCTGTGTGGCATGCCTGTCGTCTGT GCACCCGTGCTGTGGCGTGCCTGTTGTCTGTGTGGCATGCCTGTCGTCTG TGCACCCATGCTGTGGCGTGCCTGTTGTCTGTGTGGCATGCCTGTCGTCT GTGCACCCGTGCTGTGGCGTGCCCGTCGTCTGTGCACCCGTGCCGTGGCG TGCC	CD81	ENSG00000110651.13	transcript	ENST00000263645.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
CDH13_chr16_82621969_83805640	83031167	T T	TATATACA others(177): Show TATATACATGCGCATGTATACACCATATACATGCGCATGTATACACCATA TACATGCGCATGTATACACCATATACATGCGCATGTATACACCATATACA TGCGCATGTATACACCATATACATGCGCATGTATACACCATATACATGCG CATGTATACACCATATACATGCGCATGTATACACC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01081.hp2 HG02055.hp2 others(7): Show HG00597.hp1 HG01081.hp2 HG02055.hp2 HG02622.hp2 HG02647.hp1 HG02922.hp2 HG03453.hp1 HG03516.hp2 HG03540.hp1 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0001c0005 others(3): Show a0001c0001 a0001c0004 a0001c0005 a0002c0009 a0003c0015 a0003c0016	a0001c0001t0005 a0001c0001t0008 a0001c0001t0034 others(5): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0034 a0001c0004t0003 a0001c0005t0039 a0002c0009t0002 a0003c0015t0004 a0003c0016t0040	a0001c0001t0005g0054 a0001c0001t0005g0106 a0001c0001t0008g0052 others(7): Show a0001c0001t0005g0054 a0001c0001t0005g0106 a0001c0001t0008g0052 a0001c0001t0008g0067 a0001c0001t0034g0010 a0001c0004t0003g0103 a0001c0005t0039g0017 a0002c0009t0002g0050 a0003c0015t0004g0088 a0003c0016t0040g0009	10	110	0.0909	184	c.158 others(199): Show c.158-710_158-709insACACCATATACATGCGCATGTATACACCAT ATACATGCGCATGTATACACCATATACATGCGCATGTATACACCATATAC ATGCGCATGTATACACCATATACATGCGCATGTATACACCATATACATGC GCATGTATACACCATATACATGCGCATGTATACACCATATACATGCGCAT GTAT	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH17_chr8_94122162_94213555	94168114	A A	ATATATAT others(177): Show ATATATATATATATATATATATATACATGTATATATATATATATATATAT ATATACATATATATATATATACATGTATATATATATATATATATATACAT ATATATATATATATATATACATGTATATATATATATATATATATACATAT ATATATATATACACATATATATATATATATACACG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0039 a0001c0005t0001g0039	1	338	0.0030	184	c.106 others(203): Show c.1067-2139_1067-2138insCGTGTATATATATATATATATGTGTA TATATATATATATGTATATATATATATATATATATACATGTATATATATA TATATATATATGTATATATATATATATATATATACATGTATATATATATA TATGTATATATATATATATATATATATATACATGTATATATATATATATA TATATATA	CDH17	ENSG00000079112.10	transcript	ENST00000027335.8	protein_coding	9/17			chr8	TogoVar
CDH8_chr16_61642250_62041438	61960055	G G	GTGTGTAT others(177): Show GTGTGTATGTATACACATACACACATACATATATGTGTGTGTATACACAT ACATACATACATATGTGTGTGTATACACATACATACATACATATGTGTGT GTATACACATACATACATACATATGTGTGTGTACACATACATATATACAT ATATGTGTGTGTGTACACATACATATATACATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0078 a0001c0002t0014g0078	1	168	0.0060	184	c.253 others(203): Show c.253-58583_253-58582insTATATGTATATATGTATGTGTACACA CACACATATATGTATATATGTATGTGTACACACACATATGTATGTATGTA TGTGTATACACACACATATGTATGTATGTATGTGTATACACACACATATG TATGTATGTATGTGTATACACACACATATATGTATGTGTGTATGTGTATA CATACACA	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDK2AP1_chr12_123255976_123276856	123275157	A A	AGGTGCTG others(177): Show AGGTGCTGAGGGGCTGGGGTGCTGAGGGGCTGGGGTGCTGAGGGGCTGAG GTGCTGAGGGGCTGAGGGGCTGGGGTGCTGAGGGGCTGAGGTGCTGAGGG GCTGGGGTGCTGAGGGGCTGGGGTGCTGAGGGGCTGAGGTGCTGAGGGGC TGGGGTGCTGAGGGGCTGAGGTGCTGAGGGGCTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0102 a0001c0001t0010g0102	1	328	0.0031	184	c.-35 others(195): Show c.-3540_-3539insCCAGCCCCTCAGCACCTCAGCCCCTCAGCACCCC AGCCCCTCAGCACCTCAGCCCCTCAGCACCCCAGCCCCTCAGCACCCCAG CCCCTCAGCACCTCAGCCCCTCAGCACCCCAGCCCCTCAGCCCCTCAGCA CCTCAGCCCCTCAGCACCCCAGCCCCTCAGCACCCCAGCCCCTCAGCACC	CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding		3302		chr12	TogoVar
CELSR3_chr3_48631463_48667886	48647407	A A	AGGGAGAT others(177): Show AGGGAGATGTGGGAGGGAGGGTGGAGGGGAGATGTGGGAGGGTGGAGGGT GGAGGGGAGATGTGGGAGGGAGGGTGGAGGGGAGATGTGGGAGGGAGGGT GGAGGGGAGATGTGGGAGGGTGGAGGGTGGAGGGGAGATGTGGGAGGGTG GAGGGTGGAGGGGAGATGTGGGAGGGAGGGTGGAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0082 a0003c0003t0001g0082	1	206	0.0049	184	c.712 others(201): Show c.7129+433_7129+434insCTCCACCCTCCCTCCCACATCTCCCCTC CACCCTCCACCCTCCCACATCTCCCCTCCACCCTCCACCCTCCCACATCT CCCCTCCACCCTCCCTCCCACATCTCCCCTCCACCCTCCCTCCCACATCT CCCCTCCACCCTCCACCCTCCCACATCTCCCCTCCACCCTCCCTCCCACA TCTCCC	CELSR3	ENSG00000008300.17	transcript	ENST00000164024.5	protein_coding	20/34			chr3	TogoVar
CEMIP2_chr9_71678366_71773513	71752481	G G	GGGGAGGG others(177): Show GGGGAGGGTAGGGGGAGGAGAGGGGGGGAGGGAGGGGGAGGGAGGGGGAG GGGAGGGGAGGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGAGGGGAGAGA GGGAGAGAAGGAAGTAAGGAAGTTAGGAGGGAAGGGAGGAAGGAAGGAGG GAAGGGAGGAAGGAGGGAGGGAAGGAAGCAAGGAA	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0012 a0011c0020t0012	a0011c0020t0012g0051 a0011c0020t0012g0051	1	320	0.0031	184	c.-12 others(201): Show c.-12-2097_-12-2096insTTCCTTGCTTCCTTCCCTCCCTCCTTCC TCCCTTCCCTCCTTCCTTCCTCCCTTCCCTCCTAACTTCCTTACTTCCTT CTCTCCCTCTCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCCTC CCCTCCCCTCCCCCTCCCTCCCCCTCCCTCCCCCCCTCTCCTCCCCCTAC CCTCCC	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	1/23			chr9	TogoVar
CENPJ_chr13_24877279_24927861	24881925	G G	GATACATC others(177): Show GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATCTATATATAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0246 a0001c0004t0001g0246	1	440	0.0023	184	c.12 others(195): Show c.1251_*1252insAGATGTATCTATATATAGATGTATCTATATATAG ATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGAT GTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGT ATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		353		chr13	TogoVar
CFAP299_chr4_80330730_80968750	80800665	T T	TAATATAT others(177): Show TAATATATTAATATAAATATATAATATATAATATATTAATATAAATATAT AATATATAATATATTAATATAAATATATAATATATAATATATTAATATAA ATATATAATATATAATATATTAATATAAATATATAATATATAATATATTA ATATAAATATATAATATATTAATATATATATGATA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03139.hp1 HG03195.hp2 others(1): Show HG02976.hp1 HG03139.hp1 HG03195.hp2 NA18906.hp1	a0002 a0002	a0002c0005 a0002c0006 a0002c0005 a0002c0006	a0002c0005t0001 a0002c0006t0001 a0002c0005t0001 a0002c0006t0001	a0002c0005t0001g0070 a0002c0005t0001g0071 a0002c0005t0001g0076 others(1): Show a0002c0005t0001g0070 a0002c0005t0001g0071 a0002c0005t0001g0076 a0002c0006t0001g0034	4	96	0.0417	184	c.334 others(203): Show c.334-69328_334-69327insAATATATTAATATAAATATATAATAT ATAATATATTAATATAAATATATAATATATAATATATTAATATAAATATA TAATATATAATATATTAATATAAATATATAATATATAATATATTAATATA AATATATAATATATAATATATTAATATAAATATATAATATATTAATATAT ATATGATA	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5			chr4	TogoVar
CFAP45_chr1_159867364_159905165	159868681	T T	TGACTAGC others(177): Show TGACTAGCCCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	410	0.0024	184	c.38 others(195): Show c.3803_*3804insCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTG CAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGGGCTAGTC	CFAP45	ENSG00000213085.10	transcript	ENST00000368099.9	protein_coding		3682		chr1	TogoVar
CFAP61_chr20_20047532_20365698	20296130	C C	CTCTCCTT others(177): Show CTCTCCTTCCTTCCCTTGCTTCCTTTCTTCCTTCCTTTGCTTCCTTGCTT CCTTCTTTCCTTTCTTCATCCCTCCCTCCCTCCTTCCTTCCTTTCCTTCC TTCTCTCTATCCTTCCTTCCTTCCTTTCTTTCTCCCTCCCTTCCTTCCCT TCCTTCCTTCCCTCTTTTCCTTCCATCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02723.hp1 HG02809.hp2 others(2): Show HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1	a0002 a0010 a0002 a0010	a0002c0009 a0010c0020 a0002c0009 a0010c0020	a0002c0009t0001 a0002c0009t0002 a0002c0009t0003 others(1): Show a0002c0009t0001 a0002c0009t0002 a0002c0009t0003 a0010c0020t0002	a0002c0009t0001g0105 a0002c0009t0002g0104 a0002c0009t0002g0106 others(2): Show a0002c0009t0001g0105 a0002c0009t0002g0104 a0002c0009t0002g0106 a0002c0009t0003g0107 a0010c0020t0002g0123	5	236	0.0212	184	c.321 others(203): Show c.3217-2051_3217-2050insTCTCCTTCCTTCCCTTGCTTCCTTTC TTCCTTCCTTTGCTTCCTTGCTTCCTTCTTTCCTTTCTTCATCCCTCCCT CCCTCCTTCCTTCCTTTCCTTCCTTCTCTCTATCCTTCCTTCCTTCCTTT CTTTCTCCCTCCCTTCCTTCCCTTCCTTCCTTCCCTCTTTTCCTTCCATC TTTCCTTT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	24/26			chr20	TogoVar
CFAP77_chr9_132405211_132578319	132519534	G G	GGATGAAT others(177): Show GGATGAATGGATGGATGGGTGGGTGAATGGATGGATGGGTGGGTGGCTGG GCAAGTGGATGGATAGTTGGGTGGATGGATGGTTAGGTGGATGGATGGGT GGGTGGGTGGGTAGATGGATGGATGGATGAGTGGGTGGGTGGATGCATGG ATGGATGGGTGGATGGATGGGTGGGTGGGTGGGTA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02257.hp1 HG02647.hp1 others(2): Show HG02004.hp2 HG02257.hp1 HG02647.hp1 HG03579.hp2 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0060 a0001c0002t0001g0071 others(2): Show a0001c0002t0001g0039 a0001c0002t0001g0060 a0001c0002t0001g0071 a0001c0002t0001g0169 a0001c0002t0001g0170	5	322	0.0155	184	c.525 others(203): Show c.525-18063_525-18062insAATGGATGGATGGGTGGGTGAATGGA TGGATGGGTGGGTGGCTGGGCAAGTGGATGGATAGTTGGGTGGATGGATG GTTAGGTGGATGGATGGGTGGGTGGGTGGGTAGATGGATGGATGGATGAG TGGGTGGGTGGATGCATGGATGGATGGGTGGATGGATGGGTGGGTGGGTG GGTAGATG	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CHM_chrX_85856180_86052558	85911162	T T	TATATATA others(177): Show TATATATATATATATATGTATATATATATATATATATATATATGTATATA TATATATATGAATATATATATATGAATATATATATGAATATATATATGAA TATATATATGAATATATATATGAATATATATATGAATATATATATGAATA TATATATGAATATATATATATGAATATATATATGA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0227 a0001c0003t0005g0227	1	245	0.0041	184	c.124 others(199): Show c.1244+98_1244+99insTCATATATATATTCATATATATATATTCAT ATATATATTCATATATATATTCATATATATATTCATATATATATTCATAT ATATATTCATATATATATTCATATATATATTCATATATATATATTCATAT ATATATATATACATATATATATATATATATATATATACATATATATATAT ATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
COL4A3_chr2_227159624_227319792	227203074	T T	TATATATA others(177): Show TATATATACATATATGTGTATATATGTGTATATATACATATATGTGTATA TATACATATATGTGTATATATACATATATGTGTATATATGTGTATATATA CATATATATACATATATGTGTATATATACGTATATATACATATATGTGTA TATATACGTATATATACATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	344	0.0029	184	c.88- others(201): Show c.88-34888_88-34887insACATATATGTGTATATATGTGTATATAT ACATATATGTGTATATATACATATATGTGTATATATACATATATGTGTAT ATATGTGTATATATACATATATATACATATATGTGTATATATACGTATAT ATACATATATGTGTATATATACGTATATATACATATATGTGTATATATAC ATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203378	T T	TGTGTATA others(177): Show TGTGTATATACACACACATATGTGTATATATATGTGTATATACACACACA TATGTGTATATATGTGTGTATATGTGTATATACACATATATGTGTGTATA TGTGTATATACACATACACATATATGTGTGTATATGTGTATATACACATA CACATATATGTGTGTATATGTGTATATACACATAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0013 a0002c0004t0013	a0002c0004t0013g0067 a0002c0004t0013g0067	1	344	0.0029	184	c.88- others(201): Show c.88-34590_88-34589insGTGTATATACACACACATATGTGTATAT ATATGTGTATATACACACACATATGTGTATATATGTGTGTATATGTGTAT ATACACATATATGTGTGTATATGTGTATATACACATACACATATATGTGT GTATATGTGTATATACACATACACATATATGTGTGTATATGTGTATATAC ACATAC	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL6A1_chr21_45976770_46010048	45981597	C C	CCCGCCCC others(177): Show CCCGCCCCCCCCCCCCCGCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCGC CTCTCACGCCCCTCTCCCCCTCCCCCCCTCCCCTCCCCCCCCCTCCCCCC CCCCGCCCCCCCCCCTCCCCCTCCCCCCCCCCCCCCGCCCCTCCCCCTCC CCTCCCCCGCCCCCCTCCCCTCCCGCCCTCTCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0038 a0038	a0038c0017 a0038c0017	a0038c0017t0002 a0038c0017t0002	a0038c0017t0002g0096 a0038c0017t0002g0096	1	128	0.0078	184	c.-25 others(193): Show c.-254_-253insCCGCCCCCCCCCCCCCGCCCTCCCCCCTCCCCTCCC CCTCCCCTCCCGCCTCTCACGCCCCTCTCCCCCTCCCCCCCTCCCCTCCC CCCCCCTCCCCCCCCCCGCCCCCCCCCCTCCCCCTCCCCCCCCCCCCCCG CCCCTCCCCCTCCCCTCCCCCGCCCCCCTCCCCTCCCGCCCTCTCCCG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		172		chr21	TogoVar
COMMD10_chr5_116080025_116298287	116158495	T T	TCTCCGTC others(177): Show TCTCCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCC CTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTC CTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTC TCTCCCTCTCCTCTCTCTCCGTCTCCTCTCTCCCC	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0065 a0002c0003t0001g0065	1	350	0.0029	184	c.510 others(203): Show c.510+24318_510+24319insTCCGTCTCCTCTCTCTCCCTCTCCTC TCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCT CCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTC TCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCGTCTCCTC TCTCCCCC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CPNE4_chr3_131528569_132040014	131792648	T T	TATATATA others(177): Show TATATATATACACACGTGTATATATATACATATATACACACGTGTATATA TATACATATATACACACGTGTATATATATACATATATACACACGTGTATA TATATACATATATACACACGTGTATATATATACATATATACACACGTGTA TATATATACATATATACACACGTGTATATATATAC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	94	0.0106	184	c.181 others(203): Show c.181-69024_181-69023insGTATATATATACACGTGTGTATATAT GTATATATATACACGTGTGTATATATGTATATATATACACGTGTGTATAT ATGTATATATATACACGTGTGTATATATGTATATATATACACGTGTGTAT ATATGTATATATATACACGTGTGTATATATGTATATATATACACGTGTGT ATATATAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131792648	T T	TATATATA others(177): Show TATATATATACACACGTGTATATATGTATATATATACACACGTGTATATA TGTATATATATACACACGTGTATATATATACATATATACACACGTGTATA TATATACATATATACACACGTGTATATATATACATATATACACACGTGTA TATATATACATATATACACACGTGTATATATATAC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0067 a0001c0001t0009g0067	1	94	0.0106	184	c.181 others(203): Show c.181-69024_181-69023insGTATATATATACACGTGTGTATATAT GTATATATATACACGTGTGTATATATGTATATATATACACGTGTGTATAT ATGTATATATATACACGTGTGTATATATGTATATATATACACGTGTGTAT ATATATACATATATACACGTGTGTATATATATACATATATACACGTGTGT ATATATAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE7_chr16_89570758_89602246	89587335	G G	GCCCCACC others(177): Show GCCCCACCCCGCCCCCTCAGTCAGTGGCCCCGCCCCCCTCCACACCGGGA CCTGCCCCCCGCCCACCCGGAGGAGGAACCAGGCCAGATACCTGGAGTCC CCCCGGCCGCCCCTGCCCCCGCCCCCGCCCCCGCCCCCCGCCCCCCCCCC GCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0323 a0001c0004t0002g0323	1	348	0.0029	184	c.927 others(199): Show c.927+237_927+238insACCCCGCCCCCTCAGTCAGTGGCCCCGCCC CCCTCCACACCGGGACCTGCCCCCCGCCCACCCGGAGGAGGAACCAGGCC AGATACCTGGAGTCCCCCCGGCCGCCCCTGCCCCCGCCCCCGCCCCCGCC CCCCGCCCCCCCCCCGCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGC CCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587909	G G	GCCCCCGT others(177): Show GCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATAC ACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAG ATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCC CCGTGTCACCCGCGTGTCACCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA19057.hp1 NA18970.hp2 NA19057.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0022 a0001c0001 a0013c0022	a0001c0001t0001 a0013c0022t0001 a0001c0001t0001 a0013c0022t0001	a0001c0001t0001g0191 a0013c0022t0001g0224 a0001c0001t0001g0191 a0013c0022t0001g0224	2	348	0.0058	184	c.928 others(199): Show c.928-752_928-751insACAGATACACGGCCCCCCGTGTCACCCACA GATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTTACC CACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACG GCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTC ACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89598081	C C	CATCCACC others(177): Show CATCCACCCATCCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCCA TCCGTCCACCCATCCCCCCACCCATCCGTCCACCCATCCATCCACTCACC CATCCGTCCACTCACCCATCTGTCCACCCATTCCCCCGCCCACCCATCCG TCCACCCATCTGTCCACCTATCTGTCCACCCATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0324 a0002c0005t0002g0324	1	348	0.0029	184	c.14 others(195): Show c.1460_*1461insATCCACCCATCCCCCCACCCACCCATCTGTCCAC CCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACCC ATCCATCCACTCACCCATCCGTCCACTCACCCATCTGTCCACCCATTCCC CCGCCCACCCATCCGTCCACCCATCTGTCCACCTATCTGTCCACCCATCT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		836		chr16	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCCACC others(177): Show CCCCCACCCCGGGGTCCCCTCTTGCCCCTCCCTCCCCCCCCACCCCGGGT CCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCC CTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCCGG GTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	324	0.0031	184	c.101 others(201): Show c.1010-538_1010-537insACCCCGGGGTCCCCTCTTGCCCCTCCCT CCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGG TCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCC CTCCCCCCCACCCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGG GTCCCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(177): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT ATATATTTCTATATATATATATATATATATTTCTATATATATATATATTT CTATATATATATATTTCTATATATATATATATTTCTATATATATATATTT CTATATATATATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0342 a0001c0001t0001g0342	1	370	0.0027	184	c.56 others(195): Show c.5645_*5646insTATATATATATATATATATATATATATATATATA TATATATATATATATATATATTTCTATATATATATATATATATATTTCTA TATATATATATATTTCTATATATATATATTTCTATATATATATATATTTC TATATATATATATTTCTATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(177): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT ATTTCTATATATATATATATATATATATATTTCTATATATATATATATTT CTATATATATATATTTCTATATATATATATATTTCTATATATATATATTT CTATATATATATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	370	0.0027	184	c.56 others(195): Show c.5645_*5646insTATATATATATATATATATATATATATATATATA TATATATATATATATATTTCTATATATATATATATATATATATATTTCTA TATATATATATATTTCTATATATATATATTTCTATATATATATATATTTC TATATATATATATTTCTATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(177): Show ATATATATATATATATATATATTTCTATATATATATATATATATATATTT CTATATATATATATATATATATATTTCTATATATATATATATATTTCTAT ATATATATATATTTCTATATATATATATTTCTATATATATATATTTCTAT ATATATATATATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	370	0.0027	184	c.56 others(195): Show c.5645_*5646insTATATATATATATATATATATTTCTATATATATA TATATATATATATTTCTATATATATATATATATATATATTTCTATATATA TATATATATTTCTATATATATATATATTTCTATATATATATATTTCTATA TATATATATTTCTATATATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CSMD1_chr8_2930361_4999914	3354879	C C	CTATAGAT others(177): Show CTATAGATATCTATATCTATAGATCGATCTATAGATATGTCTATCTATAG ATCGATCTATAGATATGTCTATCTATAGATCGATCTATAGATATGTCTAT CTATAGATATAGATATTTATATCTATAGATCTATCTATAGATATTTATAT CTATAGATCTATCTATAGATATGTCTATCTATAGA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0015 a0015	a0015c0063 a0015c0063	a0015c0063t0010 a0015c0063t0010	a0015c0063t0010g0045 a0015c0063t0010g0045	1	126	0.0079	184	c.330 others(203): Show c.3304+4272_3304+4273insTCTATAGATAGACATATCTATAGATA GATCTATAGATATAAATATCTATAGATAGATCTATAGATATAAATATCTA TATCTATAGATAGACATATCTATAGATCGATCTATAGATAGACATATCTA TAGATCGATCTATAGATAGACATATCTATAGATCGATCTATAGATATAGA TATCTATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	21/69			chr8	TogoVar
DAAM2_chr6_39787376_39909869	39905999	A A	AATGAGAA others(177): Show AATGAGAAGGAAAAGTTCTGGGCTGGACTGTCGGAACCTGGTTGTCTGAA ATAGTCCACAAAGAACATGATTTCTCAGTTATCTGGCATTGCTATGAGAA GGAAAAGTTCTGGGCTGGACTGTCGGAACCTGGTTGTCTGAAATAGTCCA CAAAGAACATGATTTCTCAGTTATCTGGCATTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18945.hp1 NA18956.hp1 others(3): Show NA18944.hp2 NA18945.hp1 NA18956.hp1 NA18966.hp2 NA18981.hp1 NA19060.hp2	a0001 a0001	a0001c0006 a0001c0044 a0001c0006 a0001c0044	a0001c0006t0013 a0001c0006t0015 a0001c0044t0015 a0001c0006t0013 a0001c0006t0015 a0001c0044t0015	a0001c0006t0013g0064 a0001c0006t0013g0207 a0001c0006t0013g0246 others(3): Show a0001c0006t0013g0064 a0001c0006t0013g0207 a0001c0006t0013g0246 a0001c0006t0015g0057 a0001c0006t0015g0245 a0001c0044t0015g0228	6	300	0.0200	184	c.39 others(195): Show c.3962_*3963insATGAGAAGGAAAAGTTCTGGGCTGGACTGTCGGA ACCTGGTTGTCTGAAATAGTCCACAAAGAACATGATTTCTCAGTTATCTG GCATTGCTATGAGAAGGAAAAGTTCTGGGCTGGACTGTCGGAACCTGGTT GTCTGAAATAGTCCACAAAGAACATGATTTCTCAGTTATCTGGCATTGCT	DAAM2	ENSG00000146122.17	transcript	ENST00000274867.9	protein_coding		1131		chr6	TogoVar
DECR2_chr16_396885_417482	397740	G G	GGGGGTGG others(177): Show GGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGG GGTGAGGGAGTCAGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAG GGAGTTGGGGGGTGGGGGGTGGGGGGGGTGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	367	0.0027	184	c.-42 others(195): Show c.-4224_-4223insGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGTGGGGGGGTGAGGGAGTCAGGGGGTGGGGGTGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGTGAGGGAGTTGGGGGGTGGGGGGTGGGGGGGGTGGGGGT	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4144		chr16	TogoVar
DGAT1_chr8_144309584_144331852	144313658	C C	CCGCGCCT others(177): Show CCGCGCCTCCCCGCCTCCCCGCGCCTCCCCGCCTCCCCGCACCGCCTCCC CGCACCGCCTCCCCGCCTCCCCGCACCGCCTCCCCGCCTCCCCGCCCCGC CTCCCCGCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCGCCTCCCCGCACC GCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 NA18980.hp2 HG01255.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0071 a0001c0001t0001g0001 a0001c0001t0001g0071	2	370	0.0054	184	c.28 others(195): Show c.2895_*2896insCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGG CGGTGCGGGGAGGCGGGGAGGCGGGGCGGGGAGGCGGGGAGGCGCGGGGA GGCGGGGCGGGGAGGCGGGGAGGCGGTGCGGGGAGGCGGGGAGGCGGTGC GGGGAGGCGGTGCGGGGAGGCGGGGAGGCGCGGGGAGGCGGGGAGGCGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		925		chr8	TogoVar
DGAT1_chr8_144309584_144331852	144313788	G G	GCGCCGCC others(177): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCGCCTCCCCGCCTCC CCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCG CGCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCG CCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	370	0.0027	184	c.27 others(195): Show c.2765_*2766insAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAG GCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGCGCGGGGAGGCGGC GCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGGGAGGCGGCGCG GGGAGGCGGGGAGGCGGCGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		795		chr8	TogoVar
DGAT1_chr8_144309584_144331852	144313788	G G	GCGCCGCC others(177): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCGCCTCCCCGCCTCC CCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCT CCCCGCGCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCG CCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	184	c.27 others(195): Show c.2765_*2766insAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAG GCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGCGCGGG GAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCG GGGAGGCGGGGAGGCGGCGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		795		chr8	TogoVar
DGCR2_chr22_19031286_19127412	19062790	C C	CCTCTCTC others(177): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTATCTCTCTATCTCTCTCTCTCTCTATCTCT CTATCTCTCTATCTCTCTATCTCTCTATCTCTCTA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0167 a0002c0002t0002g0167	1	344	0.0029	184	c.625 others(199): Show c.625+411_625+412insTAGAGAGATAGAGAGATAGAGAGATAGAGA GATAGAGAGATAGAGAGAGAGAGAGATAGAGAGATAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAG	DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	5/9			chr22	TogoVar
DGKD_chr2_233349494_233477098	233397217	T T	TGCCAGAG others(177): Show TGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGCAGAGGCCA GAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGCCAGAG CGAGAGGACACCAGAGGGGACCAGGGTGGCTGAGGGGGGCAGCAGAGTGA GAGGACTCCAGAGGGGACCAGGGTGGCTGGCAGAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG01069.hp2 others(37): Show HG00099.hp2 HG00639.hp1 HG01069.hp2 HG01258.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG02040.hp1 HG02080.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02602.hp1 HG03017.hp2 HG03239.hp2 HG03491.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18963.hp2 NA18971.hp2 NA18983.hp2 NA18988.hp1 NA18995.hp2 NA19005.hp2 NA19060.hp1 NA19070.hp2 NA19088.hp1 NA20905.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0011 a0005c0010 a0001c0001 a0001c0011 a0005c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0030 a0001c0011t0003 a0005c0010t0003	a0001c0001t0001g0199 a0001c0001t0001g0207 a0001c0001t0003g0189 others(37): Show a0001c0001t0001g0199 a0001c0001t0001g0207 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0198 a0001c0001t0003g0200 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0212 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0245 a0001c0001t0003g0312 a0001c0001t0005g0242 a0001c0001t0008g0208 a0001c0001t0008g0211 a0001c0001t0008g0216 a0001c0001t0008g0218 a0001c0001t0008g0219 a0001c0001t0008g0220 a0001c0001t0008g0234 a0001c0001t0030g0235 a0001c0011t0003g0201 a0005c0010t0003g0213	40	336	0.1191	184	c.348 others(201): Show c.348+6796_348+6979dupTCCAGAGGGGACCAGGGTGGCTGGGGGG GGGGCCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCTGAGGGGGGC AGCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAG AGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGA GAGGAC	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DLGAP1_chr18_3491032_4460307	3674754	C C	CTCACCTC others(177): Show CTCACCTCCACTATCAGTACCGAGTCCACCACAATCATCACCCCCATTCA CCTCCACTATCAGTACCGAGTCCACCACAATCATCACCCCCATTCACCTC CACTATCAGTACCGAGTCCACCACAATCATCACCCCCATTCACCTCCACT ATCAGTACCAAGTCCACCACAATCATCACCCCCAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG02976.hp1 others(3): Show HG02486.hp2 HG02559.hp1 HG02976.hp1 HG02976.hp2 HG03209.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0041 a0001c0002t0001 a0001c0002t0014 others(3): Show a0001c0001t0041 a0001c0002t0001 a0001c0002t0014 a0001c0002t0040 a0001c0003t0019 a0001c0006t0013	a0001c0001t0041g0079 a0001c0002t0001g0039 a0001c0002t0014g0064 others(3): Show a0001c0001t0041g0079 a0001c0002t0001g0039 a0001c0002t0014g0064 a0001c0002t0040g0055 a0001c0003t0019g0006 a0001c0006t0013g0073	6	80	0.0750	184	c.159 others(205): Show c.1591+54380_1591+54381insATGGGGGTGATGATTGTGGTGGAC TTGGTACTGATAGTGGAGGTGAATGGGGGTGATGATTGTGGTGGACTCGG TACTGATAGTGGAGGTGAATGGGGGTGATGATTGTGGTGGACTCGGTACT GATAGTGGAGGTGAATGGGGGTGATGATTGTGGTGGACTCGGTACTGATA GTGGAGGTGA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	1417628	C C	CCTCCAGT others(177): Show CCTCCAGTGGGGCACAGGGGGCCACACTCCTGCCTCGCTCAGCGAGGCTC CAGGGGGGCACGGGGAGCCCCACTCCTGCCTCACTCAGCGAGGCTCCAGG GGGCCACGGGGAGCCCCACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGG CACGGGGAGCCCCACTCCTGCCTCACTCAGCGAGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01496.hp2 HG02074.hp1 others(3): Show HG00639.hp2 HG01496.hp2 HG02074.hp1 HG02895.hp1 HG02922.hp1 HG03516.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0003 a0001c0013 a0002c0001 others(2): Show a0001c0003 a0001c0013 a0002c0001 a0004c0005 a0005c0006	a0001c0003t0001 a0001c0013t0025 a0002c0001t0020 others(2): Show a0001c0003t0001 a0001c0013t0025 a0002c0001t0020 a0004c0005t0004 a0005c0006t0002	a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0013t0025g0012 others(3): Show a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0013t0025g0012 a0002c0001t0020g0024 a0004c0005t0004g0037 a0005c0006t0002g0031	6	40	0.1500	184	c.107 others(203): Show c.107-83732_107-83731insTGGGGCACAGGGGGCCACACTCCTGC CTCGCTCAGCGAGGCTCCAGGGGGGCACGGGGAGCCCCACTCCTGCCTCA CTCAGCGAGGCTCCAGGGGGCCACGGGGAGCCCCACTCCTGCCTCACTCA GCGAGGCTCCAGGGGGGCACGGGGAGCCCCACTCCTGCCTCACTCAGCGA GGCTCCAG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1417628	C C	CCTCCAGT others(177): Show CCTCCAGTGGGGCACAGGGGGCCACACTCCTGCCTCGCTCAGCGAGGCTC CAGGGGGGCACGGGGAGCCCCACTCCTGCCTCACTCAGCGAGGCTCCAGG GGGGCACGGGGGGCCCCACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGG CACGGGGGGCCCCACTCCTGCCTCACTCAGCGAGG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0021 a0002c0009t0021	a0002c0009t0021g0014 a0002c0009t0021g0014	1	40	0.0250	184	c.107 others(203): Show c.107-83732_107-83731insTGGGGCACAGGGGGCCACACTCCTGC CTCGCTCAGCGAGGCTCCAGGGGGGCACGGGGAGCCCCACTCCTGCCTCA CTCAGCGAGGCTCCAGGGGGGCACGGGGGGCCCCACTCCTGCCTCACTCA GCGAGGCTCCAGGGGGGCACGGGGGGCCCCACTCCTGCCTCACTCAGCGA GGCTCCAG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH10_chr12_123757301_123940714	123912143	G G	GGGGGGGT others(177): Show GGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGG GGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCT GTCCTGGGTGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGT CCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0071 a0071	a0071c0032 a0071c0032	a0071c0032t0001 a0071c0032t0001	a0071c0032t0001g0083 a0071c0032t0001g0083	1	170	0.0059	184	c.101 others(203): Show c.10135-935_10135-934insTCTGTCCTGGGGGGGGTCTGTCCTGG GGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGG TCTGTCCTGGGTGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGGTC TGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTC CTGGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DOCK8_chr9_209865_470255	400895	T T	TCCACCAC others(177): Show TCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCACCACCTC CACCACCTCCACCACCACCGTCACCACCCTTCTCCACCACCACCACCACC AGCACTTCCACCATCACCACCCTCCTTCACCATCACCATCACCACCACTC CACCATCACCACCACCACCTCCACCATCACCACCA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0050 a0001c0002t0001g0050	1	256	0.0039	184	c.323 others(203): Show c.3234+1638_3234+1639insACCACCAGCACTTCCACCATCACCAC CTCCTTCACCATCACCACCTCCACCACCTCCACCACCACCGTCACCACCC TTCTCCACCACCACCACCACCAGCACTTCCACCATCACCACCCTCCTTCA CCATCACCATCACCACCACTCCACCATCACCACCACCACCTCCACCATCA CCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOP1A_chr6_83062671_83173471	83145192	A A	ATATATAT others(177): Show ATATATATAATATGTATATATAATATATATATAATATGTATATATAATAT ATATATAATATATATAATATATATAATATATATATAATATATATAATATA TATATAATATATATATTATATATATTATATATATAATATATATATAATAT ATATATAATATATATATAATATATATATTTAAAAG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	298	0.0034	184	c.554 others(201): Show c.5542-324_5542-323insATATGTATATATAATATATATATAATAT GTATATATAATATATATATAATATATATAATATATATAATATATATATAA TATATATAATATATATATAATATATATATTATATATATTATATATATAAT ATATATATAATATATATATAATATATATATAATATATATATTTAAAAGTA TATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DPEP1_chr16_89608642_89643433	89619330	T T	TCCATGCC others(177): Show TCCATGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCC CTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCC CCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCCTGCTCCCCTCCCTGCA GCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	250	0.0040	184	c.-10 others(203): Show c.-107+5613_-107+5614insATGCCCCCCCTGCTCCCCTCCCTGCA GCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCC CCTCCCTGCAGCTCCATGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCC CCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTG CAGCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89635025	C C	CCCTTTCT others(177): Show CCCTTTCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCT TTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA19009.hp1 NA19079.hp1 others(3): Show NA18983.hp1 NA19009.hp1 NA19079.hp1 NA19085.hp1 NA19091.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(3): Show a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0031	6	250	0.0240	184	c.105 others(199): Show c.105-881_105-880insTTTCTTCCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCCCTTTCCCTTCCTTTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCT TTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DR1_chr1_93340907_93374493	93344857	T T	TTATATAT others(177): Show TTATATATATATAAATATATATTATATATATAAATATATATTATATATAT ATAAATATATATTAATATATATAAATATATATTATATATATATAATATAT ATAAATATATATTATATATATATAATATATATAAATATATATTATATATA TATAATATATATAAATATATATTATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	360	0.0028	184	c.-17 others(195): Show c.-1789_-1788insTATATATATATAAATATATATTATATATATAAAT ATATATTATATATATATAAATATATATTAATATATATAAATATATATTAT ATATATATAATATATATAAATATATATTATATATATATAATATATATAAA TATATATTATATATATATAATATATATAAATATATATTATATATATATAA	DR1	ENSG00000117505.13	transcript	ENST00000370272.9	protein_coding		1049		chr1	TogoVar
DTD1_chr20_18583054_18771644	18695431	C C	CTCCCCTC others(177): Show CTCCCCTCCCCTCCCTGTCCCTTCCTCCCTCCCGCCCTCCCTTCCTTCCT CCCTTCCGTCCTTCCTTCCTTCCTTTTCTTTCCCTCCCTCCTTCCTTTAC TTCTTCCCTTCCCTTGCTTTCCTTCCCCTTCCCTTTCCTTCCCTTTCCCT TCCCCTTCTTCCCCTTCCCCTTCTTCCCCTTCCTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA18980.hp1 HG02055.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0027 a0001c0001t0002 a0001c0001t0027	a0001c0001t0002g0095 a0001c0001t0027g0216 a0001c0001t0002g0095 a0001c0001t0027g0216	2	398	0.0050	184	c.478 others(203): Show c.478-48668_478-48667insCCCCTCCCCTCCCTGTCCCTTCCTCC CTCCCGCCCTCCCTTCCTTCCTCCCTTCCGTCCTTCCTTCCTTCCTTTTC TTTCCCTCCCTCCTTCCTTTACTTCTTCCCTTCCCTTGCTTTCCTTCCCC TTCCCTTTCCTTCCCTTTCCCTTCCCCTTCTTCCCCTTCCCCTTCTTCCC CTTCCTGT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DUXA_chr19_57149021_57172485	57172116	A A	AGGGGGCG others(177): Show AGGGGGCGGGGGCGCGCGCGGGGGCGGGGGCGCGCGGGGGCGGGGGCGCG CGCGGGGGCGGGGGCGCGCGGGGGCGGGGGGCGCGCGGGGGCGGGGGCGC GCGGGGGCGGGGGGCGCGCGGGGGCGGGGGCGCGCGGGGGGCGGGGGGCG CGCGGGGGCGGGGGCGCGCGGGGGCGGGGGCGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	446	0.0022	184	c.-46 others(195): Show c.-4674_-4673insGCGCGCCCCCGCCCCCGCGCGCCCCCGCCCCCGC GCGCCCCCCGCCCCCCGCGCGCCCCCGCCCCCGCGCGCCCCCCGCCCCCG CGCGCCCCCGCCCCCGCGCGCCCCCCGCCCCCGCGCGCCCCCGCCCCCGC GCGCGCCCCCGCCCCCGCGCGCCCCCGCCCCCGCGCGCGCCCCCGCCCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4632		chr19	TogoVar

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