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
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(443): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTC CCTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0018 a0001c0014t0003g0018	1	326	0.0031	450	c.483 others(465): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC TTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTTCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR81_chr17_1719704_1743585	1739952	C C	CAGGGAGT others(443): Show CAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGG AGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGA GGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGC CGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCCGGACAGTGA GGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTG GGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAG GAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCC TGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATG T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0002 a0003c0005t0003g0002	1	431	0.0023	450	c.22 others(461): Show c.2267_*2268insAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAG GAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCC TGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATG CAGGGAGTGAGGCGCCGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGG AGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGA GGCGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGC AGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGA GGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTG GGAAGGAGCCTGATGT	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		1368		chr17	TogoVar
ZBTB43_chr9_126800040_126843210	126814265	G G	GATTTTTA others(443): Show GATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTT ACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACA GATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAA AATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTT ACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACA GATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAA AATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTT ACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACA GATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAA A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG04184.hp1 NA18974.hp2 HG02258.hp2 HG04184.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0020g0329 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0020g0329	3	388	0.0077	450	c.-24 others(467): Show c.-24+5412_-24+5413insTTTTACAGATGAAATTTACATCTGTAAA ATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTA CATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAG ATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAA ATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTA CATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAG ATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAA ATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTA CATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAG ATGAAATTTACATCTGTAAAAT	ZBTB43	ENSG00000169155.10	transcript	ENST00000373464.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZDHHC20_chr13_21367571_21464303	21448229	C C	CGGGAGGG others(443): Show CGGGAGGGAGGTGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCATCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCTGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGCCCGCCCCTACTGGGAAGTGAGGAGCC CCTCAGCCCGGCCAGCCACCCCGTCCAGGAGGGAGATGGGGGGTCAGCCC CCCCACCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTC T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03453.hp2 HG03516.hp2 HG02818.hp2 HG03453.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0029 a0001c0001t0009g0030 a0001c0001t0009g0031 a0001c0001t0009g0029 a0001c0001t0009g0030 a0001c0001t0009g0031	3	302	0.0099	450	c.118 others(469): Show c.118+10824_118+10825insAGACGGGGCGGCTGGCCGGGCGGAGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CAGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCT GGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCATCTCCCTCCTG GACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCG GGCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCACCTCCCTCCCGGACAGCACGGCTGGCCAGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGCACGGCTGGCCGGGCGGGG GGGCTGACCCCCCACCTCCCTCCC	ZDHHC20	ENSG00000180776.17	transcript	ENST00000400590.8	protein_coding	1/12			chr13	TogoVar
ZNF365_chr10_62369369_62407450	62370841	C C	CATATATC others(443): Show CATATATCATATACATCATATACATCACATATATCATATACATCATATAC ATCACATATATCATATACATCATATACATCACATATATGATATATATATC ATATACATCACATATATGATATATATATCATATATATCACATATATGATA TATATCATATATATCACATATATGATATATATATCATATATCACATATAT GATATATATATCATATATCACATATATGATATATATATCATATATATCAT ATGATATATATCATATATATCACATATATGATATATATCACATGTGATAT ATAGCATATATATCATGCTATACATCATATATGATATATATGATATATAT CACGTATGCTATATAGCATATGTGATATATATGATATATATCACATATGC TATATAGCATATGTGATATATATGATATATATCACATATGCTATATATCA T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA19068.hp2 NA18966.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0002 a0001c0001t0002 a0001c0006t0002	a0001c0001t0002g0008 a0001c0006t0002g0008 a0001c0001t0002g0008 a0001c0006t0002g0008	2	350	0.0057	450	c.-36 others(461): Show c.-3631_-3630insATATATCATATACATCATATACATCACATATATC ATATACATCATATACATCACATATATCATATACATCATATACATCACATA TATGATATATATATCATATACATCACATATATGATATATATATCATATAT ATCACATATATGATATATATCATATATATCACATATATGATATATATATC ATATATCACATATATGATATATATATCATATATCACATATATGATATATA TATCATATATATCATATGATATATATCATATATATCACATATATGATATA TATCACATGTGATATATAGCATATATATCATGCTATACATCATATATGAT ATATATGATATATATCACGTATGCTATATAGCATATGTGATATATATGAT ATATATCACATATGCTATATAGCATATGTGATATATATGATATATATCAC ATATGCTATATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3527		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370948	C C	CATATATG others(443): Show CATATATGATATATATCATATGTGATATATATCATATATATCACATATAT GATATATATCATGTGATATATATAGCATATATATCATATGTGATATATAT CATATATATCACATATGATATATATCATATATGTGATATATATGATATAT AGCATATATATCATATGTGATATATAGCATATATATCATATGTGATATAT AGCATATATATCATATGTGATATATAGCATATATATCATATATCATATAT ATCATATATATCATATATCATATATATCATATATATCATATATCATATAT ATCATATATATCATATATCATATATCATATATATCATATATCATATATCA TATATATCATATATCATATATATCATATGTGATATATATGATATATATGA TATATATGATATATATGATATATAGTGATATATATCATATATATGTGATA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0105 a0001c0001t0008g0105	1	350	0.0029	450	c.-35 others(461): Show c.-3524_-3523insATATATGATATATATCATATGTGATATATATCAT ATATATCACATATATGATATATATCATGTGATATATATAGCATATATATC ATATGTGATATATATCATATATATCACATATGATATATATCATATATGTG ATATATATGATATATAGCATATATATCATATGTGATATATAGCATATATA TCATATGTGATATATAGCATATATATCATATGTGATATATAGCATATATA TCATATATCATATATATCATATATATCATATATCATATATATCATATATA TCATATATCATATATATCATATATATCATATATCATATATCATATATATC ATATATCATATATCATATATATCATATATCATATATATCATATGTGATAT ATATGATATATATGATATATATGATATATATGATATATAGTGATATATAT CATATATATGTGATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3420		chr10	TogoVar
ABHD12B_chr14_50867053_50909970	50870981	A A	AAGAAAGA others(444): Show AAGAAAGAAAGAAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAGAGAGAG AG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0353 a0004c0007t0001g0353	1	376	0.0027	451	c.-11 others(462): Show c.-1194_-1193insAGAAAGAAAGAAGAGAGAGAGAGAGAGAGAGAGA GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAA GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGA GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGA GAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGA AAGAAAGAGAGAGAGAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1071		chr14	TogoVar
ABR_chr17_998519_1184981	1173225	A A	ACATCACC others(444): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACATCACCTC AGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCACCTCAG TCCACCCCCCCGACATCACCTCAGCCCACCCCCCCACACATCACCTCAGC CCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTC AACACATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCAACACA TCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACCT CAGCCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGCCC ACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGCCCACCCCC CC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0208 a0001c0001t0006g0208	1	337	0.0030	451	c.61+ others(466): Show c.61+6441_61+6442insGGGGGGGTGGGCTGAGGTGATGTGTTGAGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTG AGGTGATGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGA TGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGG GGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGG GCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGGGGGGGTGGGCT GAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGA GGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGG TGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGT GTTGGGTGGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173225	A A	ACATCACC others(444): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACATCACCTC AGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCACCTCAG TCCACCCCCCCGACATCACCTCAGCCCACCCCCCCACACATCACCTCAGC CCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTC AACACATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCCCCCCA TCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACCT CAGCCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGCCC ACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCC CC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0141 a0001c0001t0006g0141	1	337	0.0030	451	c.61+ others(466): Show c.61+6441_61+6442insGGGGGGGTGGACTGAGGTGATGTGTTGGGT GGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTG AGGTGATGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGA TGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGGGGG GGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGG GCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGGGGGGGTGGGCT GAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGA GGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGG TGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGT GTTGGGTGGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACTRT2_chr1_3016467_3027903	3016487	G G	GGGAGGGG others(444): Show GGGAGGGGTGGAGGAAGGGGAGAGGAAGGGAAAGAGGGAGGGAGGGGAGA GGAAGGGAATGAGGGAGGGAGAAAGGAGAGAGGAAGGGAAGGAGGGATGG AGGAGGGAGGAAGGGAAGGAGAGAGGGACGGAGGGAGGAGGGAGGAAGGG AAGGAGGGAGGAAGGGAAGGAGGGATGGAGGAGGGAGGAAGGGAAGGAGA GAGGGACGGAGGGAGGAGGGAGGAAGGGAAGGAGGGGAGGGAGGGAGGAG GGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGAGGGAGGAAGGGAA GGAGGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGAAGGAGGGAGG GAGGAGAGAGGAAGGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGAGGG AGGAAGGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGG AA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0000 a0001c0004t0001g0000	1	366	0.0027	451	c.-52 others(462): Show c.-5200_-5199insGGAGGGGTGGAGGAAGGGGAGAGGAAGGGAAAGA GGGAGGGAGGGGAGAGGAAGGGAATGAGGGAGGGAGAAAGGAGAGAGGAA GGGAAGGAGGGATGGAGGAGGGAGGAAGGGAAGGAGAGAGGGACGGAGGG AGGAGGGAGGAAGGGAAGGAGGGAGGAAGGGAAGGAGGGATGGAGGAGGG AGGAAGGGAAGGAGAGAGGGACGGAGGGAGGAGGGAGGAAGGGAAGGAGG GGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAG GAGGGAGGAAGGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGG AAGGAAGGAGGGAGGGAGGAGAGAGGAAGGGAAGGAGGGAGGGAGGGAGG AGGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGGAGGAGGGAGGG AGGAGGGAGGAAGGGAA	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		4979		chr1	TogoVar
ADARB2_chr10_1172313_1742525	1397123	G G	GAGGCTTC others(444): Show GAGGCTTCCTGGGTCACCGTCCATCTCTTCCCTCCCGAGCGCAGGCTTCC TGGGTCACCATCAGCCTCTCCCCTCCCGAGTGGAGGCTTCCTGGGTCACC GTCCTCCTCTCCCCTCCCGAGTGCAGGCTTCCTGGGTCACTGTCCTCCTC TCCCCTCCCGAGTGCAGGCTTCCTGGGTCACCGTCCGTCTCTCCCCTCCC GAGCGGAGGCTTCCTGGGTCACCGTCCTCCTCTCCCCTCCCGAGTGCAGG CTTCCTGGGTCACCGTCCTCCTCTCCCCTCCCGAGTGGAGGCTTCCTGGG TCACCATCAGCCTCTCCCCTCCCGAGTGCAGGCTTCCTGGGTCACCGTCC GTCTCTCCCCTCCCGAGTGGAGGCTTCCTGGGTCACCATCAGCCTCTCCC CTCCCGAGTGGAGGCTTCCTGGGTCACCATCAGCCTCTCCCCTCCCGAGT GC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01243.hp2 HG02027.hp1 others(12): Show HG00438.hp1 HG01243.hp2 HG02027.hp1 HG02083.hp1 HG02145.hp1 HG02683.hp1 HG02735.hp2 HG02965.hp1 HG03098.hp1 HG03669.hp2 HG04184.hp1 NA18522.hp2 NA18945.hp1 NA18983.hp2 NA18989.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0016	a0001c0001t0009 a0001c0001t0031 a0001c0001t0050 others(11): Show a0001c0001t0009 a0001c0001t0031 a0001c0001t0050 a0001c0003t0009 a0001c0003t0040 a0001c0003t0060 a0002c0002t0002 a0002c0002t0007 a0002c0002t0008 a0002c0002t0062 a0002c0002t0064 a0002c0004t0028 a0002c0004t0047 a0002c0016t0006	a0001c0001t0009g0054 a0001c0001t0009g0055 a0001c0001t0031g0059 others(12): Show a0001c0001t0009g0054 a0001c0001t0009g0055 a0001c0001t0031g0059 a0001c0001t0050g0077 a0001c0003t0009g0046 a0001c0003t0040g0073 a0001c0003t0060g0104 a0002c0002t0002g0066 a0002c0002t0007g0002 a0002c0002t0008g0058 a0002c0002t0062g0093 a0002c0002t0064g0100 a0002c0004t0028g0020 a0002c0004t0047g0063 a0002c0016t0006g0010	15	106	0.1415	451	c.101 others(470): Show c.101-17964_101-17963insGCACTCGGGAGGGGAGAGGCTGATGG TGACCCAGGAAGCCTCCACTCGGGAGGGGAGAGGCTGATGGTGACCCAGG AAGCCTCCACTCGGGAGGGGAGAGACGGACGGTGACCCAGGAAGCCTGCA CTCGGGAGGGGAGAGGCTGATGGTGACCCAGGAAGCCTCCACTCGGGAGG GGAGAGGAGGACGGTGACCCAGGAAGCCTGCACTCGGGAGGGGAGAGGAG GACGGTGACCCAGGAAGCCTCCGCTCGGGAGGGGAGAGACGGACGGTGAC CCAGGAAGCCTGCACTCGGGAGGGGAGAGGAGGACAGTGACCCAGGAAGC CTGCACTCGGGAGGGGAGAGGAGGACGGTGACCCAGGAAGCCTCCACTCG GGAGGGGAGAGGCTGATGGTGACCCAGGAAGCCTGCGCTCGGGAGGGAAG AGATGGACGGTGACCCAGGAAGCCT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
AGPAT2_chr9_136668143_136692457	136675347	C C	CAGCAGGG others(444): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGC AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGA GGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAG CAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGC TGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTG GG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	374	0.0027	451	c.589 others(466): Show c.589-541_589-540insCCCAGTCCCCAGCCTACCTGCTGGCCCCCT CCCTCCCTGCTCCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTG CTCCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTC CCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTCCCAGTCCCCAGCCTA CCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGC CCCCTCCCTCCCTGCTCCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCT CCCTGCTCCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGC CAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTCCCAGTCCCCA GCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTG CTGGCCCCCTCCCTCCCTGCT	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5			chr9	TogoVar
AMPH_chr7_38378704_38636373	38570996	A A	ATAGAATA others(444): Show ATAGAATATATATTTATATATATAGAATATATATATAGAATATATATTTA TATATATAGAATATATATATAGAATATATATTTATATATATAGAATATAT ATATAGAATATATATTATATATATAGAATATATATATAGAATATATATTT ATATATATAGAATATATTTATAGAATATATATTTATATATATAGAATATA TATATAGAATATATATTTATATATATAGAATATATATATAGAATATATAT TTATATATATAGAATATATATATAGAATATATATTTATATATATAGAATA TATATATAGAATATATATATAGAATATATATATAGAATATATATATAGAA TATATATATAGAATATATATATTCAATATATATATATATTCATATATATA GAATATATATATTCATATATTGAATATATATAGAATATATATATTCATAT AT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG06807.hp1 HG02647.hp2 HG06807.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0003 a0003c0006t0003 a0001c0001t0003 a0003c0006t0003	a0001c0001t0003g0158 a0003c0006t0003g0245 a0001c0001t0003g0158 a0003c0006t0003g0245	2	288	0.0069	451	c.70- others(468): Show c.70-35986_70-35985insATATATGAATATATATATTCTATATATA TTCAATATATGAATATATATATTCTATATATATGAATATATATATATATT GAATATATATATTCTATATATATATTCTATATATATATTCTATATATATA TTCTATATATATATTCTATATATATATTCTATATATATAAATATATATTC TATATATATATTCTATATATATAAATATATATTCTATATATATATTCTAT ATATATAAATATATATTCTATATATATATTCTATATATATAAATATATAT TCTATAAATATATTCTATATATATAAATATATATTCTATATATATATTCT ATATATATAATATATATTCTATATATATATTCTATATATATAAATATATA TTCTATATATATATTCTATATATATAAATATATATTCTATATATATATTC TATATATATAAATATATATTCTA	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
ANKLE2_chr12_132720503_132766832	132729596	A A	AAGGGGAG others(444): Show AAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGA AGGGTGGGAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGG ACGGGTGGGAGGGGGAGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGG AGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGGGGAGGAGAGGG GAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGTCGACG AGTGGGAGGGGAGGGGAAGGTGAGGAGAGGGGGAGGTGAGGGGAGGGGGG GTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGGGAGGATGGGAG GGGAGGGGGAGGGGAGGGGAAGGTGAGAGAAGGGGGAGGGGAAGGCGAGG GGAAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGGGGAGGGGGAGG CG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0011 a0003c0003t0007g0011	1	350	0.0029	451	c.248 others(466): Show c.2483+82_2483+83insCGCCTCCCCCTCCCCCTCCCCTCGCCTTCC CCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCAC CTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCC CACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCACCTCCCCCTCTCCT CACCTTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCACCCATCCACTCCCCTCTCCTCCCCCTCCCCTCACCTTCC CCTCCCCTCCCCCTCCCACCCTCCCCTCCCCTCCCCCTCCCACCCTCCCC TCCCCCTCCCCCTCCCACCCGTCCACTCCCCTCACCTCCCCCTCCCCTCA CCTCCCCCTCCCCTCCCACCCTTCCACTCCCCTCACCTCCTCCTCCCCCT CCCCTCACCTCCCCCTCCCCT	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ARHGAP39_chr8_144524179_144690846	144531191	A A	AGAGCAGC others(444): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC AGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGG GCACAGGGCAGAGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0116 a0001c0002t0001g0116	1	246	0.0041	451	c.298 others(468): Show c.2981-321_2981-320insCCTGCCCTGTGCCCTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGT GCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCG CTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCC CACCTGCTGCTCTCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAG CCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ATP9B_chr18_79064394_79383283	79326371	G G	GTACCCTT others(444): Show GTACCCTTCCTCCCCTCACATGGTGTTAGTGTGTCATCTCTGCACACTCC CTCCCCTCACATGGTGTTAGGGTGTCATCTCTATACCCTCCCTCCCCTCA CATGGTGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTT AGGGTGTCATCCCTGCACACTCCCTCCCCTCACATGGTGTTAGGGTGTCA TCTCTATACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTAC CCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCCCTGCACACTCCCTCC CCTCACATGGTGTTAGGGTGTCATCTCTATACCCTCCCTCCCCTCACATG GTGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGG TGTCATCCCTGCACACTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTC TA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	298	0.0034	451	c.177 others(470): Show c.1774-2764_1774-2763insTCCTCCCCTCACATGGTGTTAGTGTG TCATCTCTGCACACTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTA TACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCCC TCCCCTCACATGGTGTTAGGGTGTCATCCCTGCACACTCCCTCCCCTCAC ATGGTGTTAGGGTGTCATCTCTATACCCTCCCTCCCCTCACATGGTGTTA GGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCAT CCCTGCACACTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTATACC CTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCCCTCCC CTCACATGGTGTTAGGGTGTCATCCCTGCACACTCCCTCCCCTCACATGG TGTTAGGGTGTCATCTCTATACCCT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
B3GAT1_chr11_134373508_134417242	134408635	G G	GCACCGTC others(444): Show GCACCGTCTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGACT CCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTCCACCGATTCCAGTGGGG TGAGGAGGGAGGTGGGACAGCCTCCACCGATTCCAGTGGGGTGAGGAGGG AGGTGGGACAGCCTGCACCGATTCCAGTGGGGTGAGGAGGGAGGTGGGAC AGCCTGCACCGATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCAC CGATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCTATTCCAG TGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGACTCCAGTGGGGTGAG GAGGGAGGTGGGACAGCCTGCACCGACTCCAGTGGGGTGAGGAGGGAGGT GGGACAGCCTGCACCGATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCC TC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0247 a0001c0001t0047g0247	1	352	0.0028	451	c.-28 others(470): Show c.-282+3171_-282+3172insGAGGCTGTCCCACCTCCCTCCTCACC CCACTGGAATCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAG TCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAGTCGGTGCAG GCTGTCCCACCTCCCTCCTCACCCCACTGGAATAGGTGCAGGCTGTCCCA CCTCCCTCCTCACCCCACTGGAATCGGTGCAGGCTGTCCCACCTCCCTCC TCACCCCACTGGAATCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCAC TGGAATCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAATCGG TGGAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAATCGGTGGAGGCTG TCCCACCTCCCTCCTCACCCCACTGGAGTCGGTGCAGGCTGTCCCACCTC CCTCCTCACCCCACTGGAGACGGTG	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5			chr11	TogoVar
BFSP2_chr3_133395056_133480208	133425964	A A	AGGGGAGG others(444): Show AGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGATGGGAGGGGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGATGGG AGGGGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGATGGGAGGGGGAG GGGAGGGGATGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGA GGGGGAGAGGGAGGGGATGGGGAGGGAGGGGGAGGGGGGGAGGGGGAGGG GGAGGGGAGGGGAGGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGGAGGGG AT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	276	0.0036	451	c.490 others(470): Show c.490-21348_490-21347insGGGGGAGGGGGAGGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGAGGGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGATGGGAGG GGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGATGGGAGGGGGAGGGG AGGGGATGGGAGGGGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGGAG GGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGGGGATGGGGAGGGAGGGGG AGGGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGGG GAGGGGGAGGGGGAGGGGATGGGGA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
C1QTNF12_chr1_1237453_1251722	1245158	C C	CCTCTGCC others(444): Show CCTCTGCCCTCCTCCCCCTTCCCCCTCCTCCCCCCACTCCTCTCCCCTCT TCCCCCGACTCCTTCCCCTACTCATCTCCCTCCTCCCCACTCCTCTCCCC TCCTCTCCCACTCCTCCCCCTCCTCCCCCACTCCTCCCCCCACTGCTCTC CCCTCTTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCCTTCTCCACTCC TCTCCCCTCCCACTCCTCCCCCACTCCTGTCCCCTCCTCCCCCCTCTTCC CCCTCCTCCCCCACTCCTCATCTCCCTCCTCCCCACTCCTCTCCCCTCTT CCCCCACTCCCCCCCACTCCTCCCCCACTCTCTCCCCTCTTGCCCCCACT CCTCCCCCACTCCTTCCCCACTCCTCTCCTCTCTTCCCCCCACTCCTCCC CCACTCCTCTCCCCTCCTCCCCCACTCCTCTCCCCTCCTCCCCCACTCCT CT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	328	0.0031	451	c.178 others(466): Show c.178-662_178-661insAGAGGAGTGGGGGAGGAGGGGAGAGGAGTG GGGGAGGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGGAAGAGAGGAGAGG AGTGGGGAAGGAGTGGGGGAGGAGTGGGGGCAAGAGGGGAGAGAGTGGGG GAGGAGTGGGGGGGAGTGGGGGAAGAGGGGAGAGGAGTGGGGAGGAGGGA GATGAGGAGTGGGGGAGGAGGGGGAAGAGGGGGGAGGAGGGGACAGGAGT GGGGGAGGAGTGGGAGGGGAGAGGAGTGGAGAAGGAGGGGAGAGGAGTGG GGGAGGAGTGGGGGGAAGAGGGGAGAGCAGTGGGGGGAGGAGTGGGGGAG GAGGGGGAGGAGTGGGAGAGGAGGGGAGAGGAGTGGGGAGGAGGGAGATG AGTAGGGGAAGGAGTCGGGGGAAGAGGGGAGAGGAGTGGGGGGAGGAGGG GGAAGGGGGAGGAGGGCAGAG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1245158	C C	CCTCTGCC others(444): Show CCTCTGCCCTCCTCCCCCTTCCCCCTCCTCCCCCCACTCCTCTCCCCTCT TCCCCCGACTCCTTCCCCTACTCATCTCCCTCCTCCCCCACTCCTCTCCC CTCCTCTCCCACTCCTCCCCCTCCTCCCCCACTCCTCCCCCCACTGCTCT CCCCTCTTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCCTTCTCCACTC CTCTCCCCTCCCACTCCTCCCCCACTCCTGTCCCCTCCTCCCCCCTCTTC CCCCTCCTCCCCCCACTCATCTCCCTCCTCCCCACTCCTCTCCCCTCTTC CCCCCACTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCTTGCCCCCACT CCTCCCCCACTCCTTCCCCACTCCTCTCCTCTCTTCCCCCCACTCCTCCC CCACTCCTCTCCCCTCCTCCCCCACTCCTCTCCCCTCCTCCCCCACTCCT CT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0060 a0001c0013t0001g0060	1	328	0.0031	451	c.178 others(466): Show c.178-662_178-661insAGAGGAGTGGGGGAGGAGGGGAGAGGAGTG GGGGAGGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGGAAGAGAGGAGAGG AGTGGGGAAGGAGTGGGGGAGGAGTGGGGGCAAGAGGGGAGAGGAGTGGG GGAGGAGTGGGGGGAGTGGGGGGAAGAGGGGAGAGGAGTGGGGAGGAGGG AGATGAGTGGGGGGAGGAGGGGGAAGAGGGGGGAGGAGGGGACAGGAGTG GGGGAGGAGTGGGAGGGGAGAGGAGTGGAGAAGGAGGGGAGAGGAGTGGG GGAGGAGTGGGGGGAAGAGGGGAGAGCAGTGGGGGGAGGAGTGGGGGAGG AGGGGGAGGAGTGGGAGAGGAGGGGAGAGGAGTGGGGGAGGAGGGAGATG AGTAGGGGAAGGAGTCGGGGGAAGAGGGGAGAGGAGTGGGGGGAGGAGGG GGAAGGGGGAGGAGGGCAGAG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1245158	C C	CCTCTGCC others(444): Show CCTCTGCCCTCCTCCCCCTTCCCCCTCCTCCCCCCACTCCTCTCCCCTCT TCCCCCGACTCCTTCCCCTACTCATCTCCCTCCTCCCCCACTCCTCTCCC CTCCTCTCCCACTCCTCCCCCTCCTCCCCCACTCCTCCCCCCACTGCTCT CCCCTCTTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCCTTCTCCACTC CTCTCCCCTCCCACTCCTCCCCCACTCCTGTCCCCTCCTCCCCCCTCTTC CCCCTCCTCCCCCCACTCATCTCCCTCCTCCCCACTCCTCTCCCCTCTTC CTCCCACTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCTTGCCCCCACT CCTCCCCCACTCCTTCCCCACTCCTCTCCTCTCTTCCCCCCACTCCTCCC CCACTCCTCTCCCCTCCTCCCCCACTCCTCTCCCCTCCTCCCCCACTCCT CT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00597.hp1 others(52): Show HG00140.hp2 HG00423.hp2 HG00597.hp1 HG00673.hp2 HG00735.hp2 HG01074.hp2 HG01123.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01978.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02165.hp2 HG02280.hp1 HG02602.hp2 HG02622.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG04115.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18940.hp1 NA18952.hp1 NA18960.hp2 NA18966.hp1 NA18983.hp2 NA18995.hp1 NA19002.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19070.hp1 NA19080.hp1 NA19081.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0010	a0001c0001 a0002c0002 a0002c0020 others(5): Show a0001c0001 a0002c0002 a0002c0020 a0002c0021 a0003c0010 a0004c0003 a0006c0006 a0010c0023	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(6): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0020t0007 a0002c0021t0002 a0003c0010t0001 a0004c0003t0001 a0006c0006t0001 a0010c0023t0001	a0001c0001t0001g0005 a0001c0001t0001g0109 a0002c0002t0001g0007 others(13): Show a0001c0001t0001g0005 a0001c0001t0001g0109 a0002c0002t0001g0007 a0002c0002t0001g0020 a0002c0002t0001g0096 a0002c0002t0001g0099 a0002c0002t0002g0003 a0002c0002t0002g0025 a0002c0002t0002g0086 a0002c0020t0007g0097 a0002c0021t0002g0098 a0003c0010t0001g0023 a0004c0003t0001g0022 a0004c0003t0001g0095 a0006c0006t0001g0012 a0010c0023t0001g0117	55	328	0.1677	451	c.178 others(466): Show c.178-662_178-661insAGAGGAGTGGGGGAGGAGGGGAGAGGAGTG GGGGAGGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGGAAGAGAGGAGAGG AGTGGGGAAGGAGTGGGGGAGGAGTGGGGGCAAGAGGGGAGAGGAGTGGG GGAGGAGTGGGGGGAGTGGGAGGAAGAGGGGAGAGGAGTGGGGAGGAGGG AGATGAGTGGGGGGAGGAGGGGGAAGAGGGGGGAGGAGGGGACAGGAGTG GGGGAGGAGTGGGAGGGGAGAGGAGTGGAGAAGGAGGGGAGAGGAGTGGG GGAGGAGTGGGGGGAAGAGGGGAGAGCAGTGGGGGGAGGAGTGGGGGAGG AGGGGGAGGAGTGGGAGAGGAGGGGAGAGGAGTGGGGGAGGAGGGAGATG AGTAGGGGAAGGAGTCGGGGGAAGAGGGGAGAGGAGTGGGGGGAGGAGGG GGAAGGGGGAGGAGGGCAGAG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1245158	C C	CCTCTGCC others(444): Show CCTCTGCCCTCCTCCCCCTTCCCCCTCCTCCCCCCACTCCTCTCCCCTCT TCCCCCGACTCCTTCCCCTACTCATCTCCCTCCTCCCCCACTCCTCTCCC CTCCTCTCCCACTCCTCCCCCTCCTCCCCCACTCCTCCCCCCACTGCTCT CCCCTCTTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCCTTCTCCACTC CTCTCCCCTCCCACTCCTCCCCCACTCCTGTCCCCTCCTCCCCCCTCTTC CCCCTCCTCCCCCCACTCATCTCCCTCCTCCCCACTCCTCTCCCCTCTTC TCCCCACTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCTTGCCCCCACT CCTCCCCCACTCCTTCCCCACTCCTCTCCTCTCTTCCCCCCACTCCTCCC CCACTCCTCTCCCCTCCTCCCCCACTCCTCTCCCCTCCTCCCCCACTCCT CT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	328	0.0031	451	c.178 others(466): Show c.178-662_178-661insAGAGGAGTGGGGGAGGAGGGGAGAGGAGTG GGGGAGGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGGAAGAGAGGAGAGG AGTGGGGAAGGAGTGGGGGAGGAGTGGGGGCAAGAGGGGAGAGGAGTGGG GGAGGAGTGGGGGGAGTGGGGAGAAGAGGGGAGAGGAGTGGGGAGGAGGG AGATGAGTGGGGGGAGGAGGGGGAAGAGGGGGGAGGAGGGGACAGGAGTG GGGGAGGAGTGGGAGGGGAGAGGAGTGGAGAAGGAGGGGAGAGGAGTGGG GGAGGAGTGGGGGGAAGAGGGGAGAGCAGTGGGGGGAGGAGTGGGGGAGG AGGGGGAGGAGTGGGAGAGGAGGGGAGAGGAGTGGGGGAGGAGGGAGATG AGTAGGGGAAGGAGTCGGGGGAAGAGGGGAGAGGAGTGGGGGGAGGAGGG GGAAGGGGGAGGAGGGCAGAG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1245158	C C	CCTCTGCC others(444): Show CCTCTGCCCTCCTCCCCCTTCCCCCTCCTCCCCCCACTCCTCTCCCCTCT TCCCCCGACTCCTTCCCCTACTCATCTCCCTCCTCCCCCACTCCTCTCCC CTCCTCTCCCACTCCTCCCCCTCCTCCCCCACTCCTCCCCCGACTGCTCT CCCCTCTTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCCTTCTCCACTC CTCTCCCCTCCCACTCCTCCCCCACTCCTGTCCCCTCCTCCCCCCTCTTC CCCCTCCTCCCCCCACTCATCTCCCTCCTCCCCACTCCTCTCCCCTCTTC CTCCCACTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCTTGCCCCCACT CCTCCCCCACTCCTTCCCCACTCCTCTCCTCTCTTCCCCCCACTCCTCCC CCACTCCTCTCCCCTCCTCCCCCACTCCTCTCCCCTCCTCCCCCACTCCT CT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0044 a0002c0002t0001g0044	1	328	0.0031	451	c.178 others(466): Show c.178-662_178-661insAGAGGAGTGGGGGAGGAGGGGAGAGGAGTG GGGGAGGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGGAAGAGAGGAGAGG AGTGGGGAAGGAGTGGGGGAGGAGTGGGGGCAAGAGGGGAGAGGAGTGGG GGAGGAGTGGGGGGAGTGGGAGGAAGAGGGGAGAGGAGTGGGGAGGAGGG AGATGAGTGGGGGGAGGAGGGGGAAGAGGGGGGAGGAGGGGACAGGAGTG GGGGAGGAGTGGGAGGGGAGAGGAGTGGAGAAGGAGGGGAGAGGAGTGGG GGAGGAGTGGGGGGAAGAGGGGAGAGCAGTCGGGGGAGGAGTGGGGGAGG AGGGGGAGGAGTGGGAGAGGAGGGGAGAGGAGTGGGGGAGGAGGGAGATG AGTAGGGGAAGGAGTCGGGGGAAGAGGGGAGAGGAGTGGGGGGAGGAGGG GGAAGGGGGAGGAGGGCAGAG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1245158	C C	CCTCTGCC others(444): Show CCTCTGCCCTCCTCCCCCTTCCCCCTCCTCCCCCCACTCCTCTCCCCTCT TCCCCCGACTCCTTCCCCTGCTCATCTCCCTCCTCCCCCACTCCTCTCCC CTCCTCTCCCACTCCTCCCCCTCCTCCCCCACTCCTCCCCCCACTGCTCT CCCCTCTTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCCTTCTCCACTC CTCTCCCCTCCCACTCCTCCCCCACTCCTGTCCCCTCCTCCCCCCTCTTC CCCCTCCTCCCCCCACTCATCTCCCTCCTCCCCACTCCTCTCCCCTCTTC CTCCCACTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCTTGCCCCCACT CCTCCCCCACTCCTTCCCCACTCCTCTCCTCTCTTCCCCCCACTCCTCCC CCACTCCTCTCCCCTCCTCCCCCACTCCTCTCCCCTCCTCCCCCACTCCT CT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0094 a0002c0002t0002g0094	1	328	0.0031	451	c.178 others(466): Show c.178-662_178-661insAGAGGAGTGGGGGAGGAGGGGAGAGGAGTG GGGGAGGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGGAAGAGAGGAGAGG AGTGGGGAAGGAGTGGGGGAGGAGTGGGGGCAAGAGGGGAGAGGAGTGGG GGAGGAGTGGGGGGAGTGGGAGGAAGAGGGGAGAGGAGTGGGGAGGAGGG AGATGAGTGGGGGGAGGAGGGGGAAGAGGGGGGAGGAGGGGACAGGAGTG GGGGAGGAGTGGGAGGGGAGAGGAGTGGAGAAGGAGGGGAGAGGAGTGGG GGAGGAGTGGGGGGAAGAGGGGAGAGCAGTGGGGGGAGGAGTGGGGGAGG AGGGGGAGGAGTGGGAGAGGAGGGGAGAGGAGTGGGGGAGGAGGGAGATG AGCAGGGGAAGGAGTCGGGGGAAGAGGGGAGAGGAGTGGGGGGAGGAGGG GGAAGGGGGAGGAGGGCAGAG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar
C8orf82_chr8_144520733_144534111	144531191	A A	AGAGCAGC others(444): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC AGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGG GCACAGGGCAGAGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	398	0.0025	451	c.-22 others(462): Show c.-2276_-2275insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCTCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
CACNA1C_chr12_2047987_2702950	2539706	T T	TTTCATAA others(444): Show TTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAA GATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGC AGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAA GGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAG GAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTC ATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATG CAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGG TTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGAC TTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGG GC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0003 a0001c0026t0003	a0001c0026t0003g0066 a0001c0026t0003g0066	1	104	0.0096	451	c.139 others(472): Show c.1391-10197_1391-10196insTTTCATAAAGATGCAGGCAGGGTT TAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTT AAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGC TTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAG ATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCA GGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAG GACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGG AGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCA TAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGC AGGCAGGGTTTAAGGACTTAAGGAGGG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255352	A A	ATAATTTT others(444): Show ATAATTTTATATATAATTATATATATAATTTTATATATAATTATATATAT AATTTTATATATAATTATATATATAATTTTATATATAATTATATATATAA TTTTATATATATATAATTATATATATTATATAATTTTATATATATAATTA TATATATTATATAATTATATATATAATTTTATATATATATAATTATATAT ACAATTTTATAATATATATAATTATATATACAATTATATATATATATAAT TATATATATATAATTGTATATATAATTTTATATATATAATTATATATAAT TTTATATATATATAATTATATATATAATTATATATATATAATTATATATA TTTATATATATATATAATTATATATATAATTTTATATATATAATTTTATA TAATTTTATATATAATTATATATATAATTTTATATATATAATTTTATATA TG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0269 a0004c0005t0001g0269	1	330	0.0030	451	c.907 others(466): Show c.907+197_907+198insCATATATAAAATTATATATATAAAATTATA TATATAATTATATATAAAATTATATAAAATTATATATATAAAATTATATA TATAATTATATATATATATAAATATATATAATTATATATATATAATTATA TATATAATTATATATATATAAAATTATATATAATTATATATATAAAATTA TATATACAATTATATATATATAATTATATATATATATAATTGTATATATA ATTATATATATTATAAAATTGTATATATAATTATATATATATAAAATTAT ATATATAATTATATAATATATATAATTATATATATAAAATTATATAATAT ATATAATTATATATATATAAAATTATATATATAATTATATATAAAATTAT ATATATAATTATATATAAAATTATATATATAATTATATATAAAATTATAT ATATAATTATATATAAAATTA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAPN11_chr6_44153820_44189401	44181787	A A	ACTCACAC others(444): Show ACTCACACACACACACTCACATACAGACACAACCACACCACACTCTCACA CACACACTCACATACAGACACAACCACACCACACCACACACACACACACT CACATACAGACACAACCACACCACACTCACACACACACACTCACATACAG ACACAACCACACCACACACACACACTCACATACAGACACAACCACACCAC ACTCACACATACACACTCACATACAGACACAACCACACCACACTCACACA CACACACTCACATACAGACACAACCACACCACACTCACACACACACACTC ACATACAGACACAACCACACCACACTCACACACACACACACAGACACAAC CACACCACACTCACACACACACACTCACATACAGACACAACCACACCACA CACACACACACAGACACAACCACACCACACACACACCCAACCACACCACA CT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01358.hp2 HG01975.hp1 others(5): Show HG00733.hp2 HG01358.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02273.hp1 NA18612.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0014c0022 a0001c0001 a0014c0022	a0001c0001t0001 a0001c0001t0002 a0014c0022t0002 a0001c0001t0001 a0001c0001t0002 a0014c0022t0002	a0001c0001t0001g0408 a0001c0001t0002g0142 a0001c0001t0002g0247 others(5): Show a0001c0001t0001g0408 a0001c0001t0002g0142 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0395 a0001c0001t0002g0400 a0001c0001t0002g0401 a0014c0022t0002g0310	8	460	0.0174	451	c.193 others(468): Show c.1938+468_1938+469insTCACACACACACACTCACATACAGACAC AACCACACCACACTCTCACACACACACTCACATACAGACACAACCACACC ACACCACACACACACACACTCACATACAGACACAACCACACCACACTCAC ACACACACACTCACATACAGACACAACCACACCACACACACACACTCACA TACAGACACAACCACACCACACTCACACATACACACTCACATACAGACAC AACCACACCACACTCACACACACACACTCACATACAGACACAACCACACC ACACTCACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACACACACAGACACAACCACACCACACTCACACACACACACTCACAT ACAGACACAACCACACCACACACACACACACAGACACAACCACACCACAC ACACACCCAACCACACCACACTC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCZ1_chr7_5893733_5931550	5930763	C C	CGTACACA others(444): Show CGTACACAGCCCACCAAGATGCCTAGCAGCAAAGGTGTACATGTACACAG CCCCCCAAGATACCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAG ATGCCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATGCCTAGC AGCAAAGGTGAGCATGTACACAGCCCCCCAAGATGCCTAGCAGCAAAGGT GAGCATGTACACAGCCCCCCAAGATGCCTAGCAGCAAAGGTGAGCATGTA CACAGCCCCCCAAGATACCTAGCAGCAAAGGTGAGCATGTACACAGCCCC CCAAGATGCCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATGC CTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATACCTAGCAGCA AAGGTGAGCATGTACACAGCCCCCCAAGATACCTAGCAGCAAAGGTGAGC AT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00741.hp1 HG01071.hp2 HG00639.hp2 HG00741.hp1 HG01071.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0017 a0001c0005t0019 a0001c0005t0006 a0001c0005t0017 a0001c0005t0019	a0001c0005t0006g0112 a0001c0005t0017g0108 a0001c0005t0019g0111 a0001c0005t0006g0112 a0001c0005t0017g0108 a0001c0005t0019g0111	3	114	0.0263	451	c.50 others(462): Show c.5076_*5077insGTACACAGCCCACCAAGATGCCTAGCAGCAAAGG TGTACATGTACACAGCCCCCCAAGATACCTAGCAGCAAAGGTGAGCATGT ACACAGCCCCCCAAGATGCCTAGCAGCAAAGGTGAGCATGTACACAGCCC CCCAAGATGCCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATG CCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATGCCTAGCAGC AAAGGTGAGCATGTACACAGCCCCCCAAGATACCTAGCAGCAAAGGTGAG CATGTACACAGCCCCCCAAGATGCCTAGCAGCAAAGGTGAGCATGTACAC AGCCCCCCAAGATGCCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCA AGATACCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATACCTA GCAGCAAAGGTGAGCAT	CCZ1	ENSG00000122674.12	transcript	ENST00000325974.9	protein_coding		4214		chr7	TogoVar
CD247_chr1_167425640_167523529	167434959	T T	TTCCTCCA others(444): Show TTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCT TCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCC TCCTCCAGCCCTTCCTCCAGCCCTCCTCCGGAGCCCTCCTCCAGCCCTTC CTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTCCT CCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCT CCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTC CAGCCCTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTCCTCCGG AGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAG CCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGC CC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	374	0.0027	451	c.336 others(466): Show c.336+439_336+440insGGGCTGGAGGAAGGGCTGGAGGAGGGCTCC GGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTG GAGGAAGGGCTGGAGGAGGGCTCCGGAGGAGGGCTGGAGGAAGGGCTGGA GGAGGGCTCCGGAGGAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAG GAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGG AAGGGCTGGAGGAGGGCTCCGGAGGAGGGCTGGAGGAAGGGCTGGAGGAG GGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAG GGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGG GCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGC TCCGGAGGAAGGGCTGGAGGA	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7			chr1	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(444): Show CCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCC CCTCTCCCCTCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCT CT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	256	0.0039	451	c.-45 others(472): Show c.-455+14589_-455+14590insCCTCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCTC CCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCTCCCCTCCCCTCTCCCCTCCCTCCCCTCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCTCTCCCC TCCCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDK19_chr6_110604978_110820469	110772889	C C	CCAAAAAA others(444): Show CCAAAAAAAAAAAAAAAAAGAGAGACTCATTAAGAAGGTCTCCATAGCAG GGCGTGGTGGCCAATGCCTATAATCTTAGCACTTTGGGAGGCTAAGGCGG GCAGATCGCTTGAGCCCAGGGGCTCAAGGCCAGCCTGGGCAACATGGGGA AACCCCGTCTCTTAAAAAAAAAAAAAAGGTCTCTATAAAAACATATTTTA CAAGTGTGTGGGATGAGAACTAACTACAGGCAGATCACGAGGTCAAGAGA TCAAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTAATAAAAATAC AAAAATTAGCTGGGCGTGATGGTGCGTGTCTGTAGTTCCAGCTACTTGGG AGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGA GCCAAGATCGCACCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCTGT CT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0238	1	300	0.0033	451	c.129 others(470): Show c.129-26689_129-26688insAGACAGAGTCTTGCTCTGTTGCCAGG CTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCACCTCCTGGG TTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTACAGACA CGCACCATCACGCCCAGCTAATTTTTGTATTTTTATTAGAGATGGGGTTT CACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTCGTGATCTGCCTG TAGTTAGTTCTCATCCCACACACTTGTAAAATATGTTTTTATAGAGACCT TTTTTTTTTTTTTAAGAGACGGGGTTTCCCCATGTTGCCCAGGCTGGCCT TGAGCCCCTGGGCTCAAGCGATCTGCCCGCCTTAGCCTCCCAAAGTGCTA AGATTATAGGCATTGGCCACCACGCCCTGCTATGGAGACCTTCTTAATGA GTCTCTCTTTTTTTTTTTTTTTTTG	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	1/12			chr6	TogoVar
CENPM_chr22_41933737_41952152	41939896	A A	AAGAAAGA others(444): Show AAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAA GAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGA AAGAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAA GAAAGAAGAAAGAAAGAAAGAAAGAAGAAAGAAGAAGAAAGAAAGAAAGA AAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAA GAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAGAA AGAAAGAAAGAAAGAAAAGGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAA AG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0150 a0001c0002t0002g0150	1	258	0.0039	451	c.403 others(466): Show c.403-701_403-700insCTTTCTTTCTCTTTCTTTCTCTTTCTTTCT TTCCTTTTCTTTCTTTCTTTCTTTCTTTTTTCTTTCTTTCTTTCTTTCTT TCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTC TTTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTT TCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTCTTCTTTCTTCT TTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTC TTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTC TTTCTTTCTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTC TTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTT TCTTTCTTTCTCTTTCTTTCT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CFAP157_chr9_127701988_127721002	127720839	T T	TCCCTCCC others(444): Show TCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTC CCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCT TCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCTTCCTCCTCCCTTCCCCC TTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTC CCTTCCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCT CCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTA TCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCT TCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTC CCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCCTCCCCCT TC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0009 a0001c0003t0001g0009	1	354	0.0028	451	c.69 others(462): Show c.6934_*6935insCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCT CCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCTTC CTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCC CCTTCTTCCCTCCTCCCTTCCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCT TCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTC TCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCC TTTCTCCCTCCCCCTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4838		chr9	TogoVar
CFAP46_chr10_132803392_132947570	132896020	C C	CATGAAGA others(444): Show CATGAAGACATGGTGAGAAGGCAGCCAGGCTCTGTGTGCCACATGAAGAC ACGGTGAGAAGGCAGCCAGGCTCTGTGTGCCACATGAAGACACGGCGAGA AGGCAGCCAGGCTCTGTGTGCCACATGAAGACACGGTGAGAAGGCAGCCA GGCTCTGTGTGCCACATGAAGACATGGTGAGAAGGCAGCCAGGCTCTGTG TGCCACATGAAGACATGGTGAGAAGGCAGCCAGGCTCTGTGTGCCACATG AAGACATGGTGAGAAGGCAGCCAGGCTCTGTGTGCCACATGAAGACATGG TGAGAAGGCAGCCAGGCTCTGTGTGCCACATGAAGACATGGTGAGAAGGC AGCCAGGCTCTGTGTGCCACATGAAGACATGGTGAGAAGGCAGCCAGGCT CTGTGTGCCACATGAAGACATGGTGAGAAGGCAGCCAGGCTCTGTGTGCC AT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG02486.hp1 HG02055.hp2 HG02451.hp1 HG02486.hp1	a0008 a0023 a0008 a0023	a0008c0009 a0008c0097 a0023c0100 a0008c0009 a0008c0097 a0023c0100	a0008c0009t0001 a0008c0097t0001 a0023c0100t0002 a0008c0009t0001 a0008c0097t0001 a0023c0100t0002	a0008c0009t0001g0123 a0008c0097t0001g0118 a0023c0100t0002g0019 a0008c0009t0001g0123 a0008c0097t0001g0118 a0023c0100t0002g0019	3	246	0.0122	451	c.321 others(470): Show c.3219+2938_3219+2939insATGGCACACAGAGCCTGGCTGCCTTC TCACCATGTCTTCATGTGGCACACAGAGCCTGGCTGCCTTCTCACCATGT CTTCATGTGGCACACAGAGCCTGGCTGCCTTCTCACCATGTCTTCATGTG GCACACAGAGCCTGGCTGCCTTCTCACCATGTCTTCATGTGGCACACAGA GCCTGGCTGCCTTCTCACCATGTCTTCATGTGGCACACAGAGCCTGGCTG CCTTCTCACCATGTCTTCATGTGGCACACAGAGCCTGGCTGCCTTCTCAC CATGTCTTCATGTGGCACACAGAGCCTGGCTGCCTTCTCACCGTGTCTTC ATGTGGCACACAGAGCCTGGCTGCCTTCTCGCCGTGTCTTCATGTGGCAC ACAGAGCCTGGCTGCCTTCTCACCGTGTCTTCATGTGGCACACAGAGCCT GGCTGCCTTCTCACCATGTCTTCAT	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	24/57			chr10	TogoVar
D2HGDH_chr2_241729630_241773811	241766857	T T	TGGGGAGA others(444): Show TGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGGGAAGT TGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGT TGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGGGAAGT TGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGT TGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGT TGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGT TGGGGAGATGCGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACT TGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACT TGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGGGAAGT TG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0140 a0002c0002t0005g0140	1	412	0.0024	451	c.130 others(468): Show c.1307-810_1307-809insGGAAGTTGGGGAGATGGGAGCCCCGGGC TGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGC TGAGGGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATGGGAGCCCCGGGC TGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGC TGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGC TGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGCGAGCCCCGGGC TGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGC TGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGC TGAGGGAGTAGGAAGAGGGGGGGGAAGTTGGGGGAGATGGGAGCCCCGGG CTGAGGGAGTAGGAAGAGGGGGG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(444): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGG GGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	367	0.0027	451	c.-42 others(462): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGG TGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DGKB_chr7_14140049_14907751	14212322	T T	TATTTACT others(444): Show TATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTAC TCTCATGTTTTGTGATATTTACTCTCGTGTTTTGTGATTTTACTCTCATG TTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTG ATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTAC TCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGT TTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGA TTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTAC TTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTT TTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGA TA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0069 a0001c0002t0003g0069	1	148	0.0068	451	c.212 others(472): Show c.2123-34172_2123-34171insTATCACAAAACATGAGAGTAAATA TCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAA ACATGAGAGTAAAATCACAAAACACGAAGTAAATATCACAAAACATGAGA GTAAATATCACAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAATA TCACAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAAATCACAAAA CATGAGAGTAAAATCACAAAACATGAGAGTAAATATCACAAAACATGAGA GTAAAATCACAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAATAT CACAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAAATCACAAAAC ACGAGAGTAAATATCACAAAACATGAGAGTAAATATCACAAAACATGAGA GTAAAATCACAAAACATGAGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DIDO1_chr20_62872743_62931505	62875320	C C	CCACCCCC others(444): Show CCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCGCACCCCC ACCCCCACCCCCACCCGCACCCCCACCCGCACCCGCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCCGACCCCCACCCGCACCCCCACCCCCACCC CCACCCGCACCCGCACCCCCACCCGCACCCGCACCCGCACCCCCACCCCC ACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCCACCCCCACC CGCACCCGCACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCC CACCCCCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCA CCCCCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACC CG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0017 a0017	a0017c0039 a0017c0039	a0017c0039t0002 a0017c0039t0002	a0017c0039t0002g0261 a0017c0039t0002g0261	1	320	0.0031	451	c.39 others(462): Show c.3912_*3913insCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGG TGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTG GGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGG GGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGGTGGGGGTGGGGGTGCGG GTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGT GCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGCGGGTGG GGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTCGGG GTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGT GCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGC GGGTGGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2422		chr20	TogoVar
DISP3_chr1_11474155_11542551	11522750	A A	ACCCAGCC others(444): Show ACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAG CCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGA CCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGC CAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGAC CCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCC AGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACC CAGCCAAGACCCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCCA GAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGCCC AGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAG AG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0298 a0001c0005t0004g0298	1	358	0.0028	451	c.236 others(470): Show c.2363-1183_2363-1182insAGCCCAGCCAGGGCCCAGCCAGGACC CAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCA GGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCC AGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAG GACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCA GCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGA GCCCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCCAAGACCCAG CCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGA CCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGC CAGAGCCCAGCCAGAGCCCAGCCAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP3_chr1_11474155_11542551	11522761	A A	ACCCAGCC others(444): Show ACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAG CCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGA CCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGC CAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGC CCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCC AGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGACC CAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCAGCCA GGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCC AGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAG AG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG03486.hp2 others(1): Show HG02258.hp2 HG02280.hp2 HG03486.hp2 NA18906.hp1	a0008 a0008	a0008c0013 a0008c0037 a0008c0013 a0008c0037	a0008c0013t0009 a0008c0037t0004 a0008c0013t0009 a0008c0037t0004	a0008c0013t0009g0316 a0008c0013t0009g0331 a0008c0013t0009g0333 others(1): Show a0008c0013t0009g0316 a0008c0013t0009g0331 a0008c0013t0009g0333 a0008c0037t0004g0330	4	358	0.0112	451	c.236 others(470): Show c.2363-1172_2363-1171insAGCCCAGCCAGAGCCCAGCCAGGACC CAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCA GGACCCAGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCC AGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAG GACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCA GCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGG ACCCAGCCAAGACCCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAG CCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGA CCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGC CAGGGCCCAGCGAGAGCCCAGCCAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP3_chr1_11474155_11542551	11522761	A A	ACCCAGCC others(444): Show ACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAG CCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGA CCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGC CAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGC CCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCC AGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGACC CAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCA GGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCC AGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAG AG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0009 a0008c0013t0009	a0008c0013t0009g0332 a0008c0013t0009g0332	1	358	0.0028	451	c.236 others(470): Show c.2363-1172_2363-1171insAGCCCAGCCAGAGCCCAGCCAGGACC CAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCA GGACCCAGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCC AGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAG GACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCA GCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGG ACCCAGCCAAGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAG CCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGA CCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGC CAGGGCCCAGCGAGAGCCCAGCCAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DLGAP2_chr8_732628_1713476	1033787	G G	GCTCATCC others(444): Show GCTCATCCCGACCCCGCGTGTCACCGCGAGTGGATTCACACGCTCATCCC GGCCCCGCGTGTCACCGCGAGTGGACTCACACCCTCATCCCGACCCCGCG TGTCACCGCGAGTGGGTTCACAGCCTCATCCCGACCCCGCGTGTCACCGC GAGTGGATTCACACGCTCATCCCGACCCCACGTGTCACCGCGAGTGGGTT CACACGCTCATCCCGACCCCGCGTGTCACCGCGAGTGGGTTCACACGCTC ATCCCGACCCCGCGTGTCACCGTGAGTGGACTCACACCCTCATCCCGACC CCGCGTGTCACCGCGAGTGGATTCACACACTCATCCCGACCCCGCGTGTC ACCATGAGTGGACTCACACCCTCATCCCGACCCCGCGTGTCACCGCGAGT GGATTCACACACTCATCCCGACCCCGCGTGTCACCGCGAGTGGGTTCACA GC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0009 a0002c0004t0003g0009	1	40	0.0250	451	c.73+ others(470): Show c.73+125894_73+125895insACTCACACCCTCATCCCGACCCCGCG TGTCACCGCGAGTGGGTTCACAGCCTCATCCCGACCCCGCGTGTCACCGC GAGTGGATTCACACGCTCATCCCGACCCCACGTGTCACCGCGAGTGGGTT CACACGCTCATCCCGACCCCGCGTGTCACCGCGAGTGGGTTCACACGCTC ATCCCGACCCCGCGTGTCACCGTGAGTGGACTCACACCCTCATCCCGACC CCGCGTGTCACCGCGAGTGGATTCACACACTCATCCCGACCCCGCGTGTC ACCATGAGTGGACTCACACCCTCATCCCGACCCCGCGTGTCACCGCGAGT GGATTCACACACTCATCCCGACCCCGCGTGTCACCGCGAGTGGGTTCACA GCCTCATCCCGACCCCGCGTGTCACCGCGAGTGGATTCACACGCTCATCC CGGCCCCGCGTGTCACCGCGAGTGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAI7_chr12_25103289_25200160	25174371	G G	GATATATA others(444): Show GATATATATATGATATATATATCCCATATATATGATATATATATGATATA TATATCCCATATATATGATATATATGATATATATATCATATATATGGGAT ATATATATCATATATATCATATATATGGGATATATATATCATATATATCA TATATATGGGATATATATATCATATATATCATATATATGGGATATATATA TCATATATATCATATATATGGGATATATATATCATATATATCATATATAT GGGATATATATATCATATATATCATATATATGGGATATATATATCATATA TATCATATATATGGGATATATATATCATATATATCATATATATGGGATAT ATATATCATATATATCATATATATGGGATATATATATCATATATATCATA TATATGGGATATATATATCATATATATCATATATATGGGATATATATATC AT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0012 a0012	a0012c0007 a0012c0007	a0012c0007t0001 a0012c0007t0001	a0012c0007t0001g0323 a0012c0007t0001g0323	1	336	0.0030	451	c.22- others(468): Show c.22-13175_22-13174insATGATATATATATCCCATATATATGATA TATATGATATATATATCCCATATATATGATATATATGATATATATATCCC ATATATATGATATATATGATATATATATCCCATATATATGATATATATGA TATATATATCCCATATATATGATATATATGATATATATATCCCATATATA TGATATATATGATATATATATCCCATATATATGATATATATGATATATAT ATCCCATATATATGATATATATGATATATATATCCCATATATATGATATA TATGATATATATATCCCATATATATGATATATATGATATATATATCCCAT ATATATGATATATATGATATATATATCCCATATATATGATATATATATCA TATATATCATATATATGGGATATATATATCATATATATATCATATATATG GGATATATATATCATATATATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DYM_chr18_49031387_49465645	49440818	T T	TTATATAA others(444): Show TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATGACTATATATTATATATTTATATAATATATGACTATATATTATATAT TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATGACTATATATTATATATTTATATAATATATGACTATATATTATATAT TTATATAATATATGACTATATATTATATATTTATATAATATATTTATATA AATACATTATATTTTATATATTTATATAAATACATTATATTTTATATATT TATATAAATATATTATATTTTATATAATATATTATATATAATATATATAA TA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01433.hp2 HG01975.hp2 others(2): Show HG00099.hp2 HG01433.hp2 HG01975.hp2 HG03942.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0002g0179 a0001c0001t0002g0217 a0001c0001t0003g0226 others(2): Show a0001c0001t0002g0179 a0001c0001t0002g0217 a0001c0001t0003g0226 a0001c0001t0006g0178 a0001c0001t0006g0180	5	290	0.0172	451	c.-53 others(470): Show c.-53-10372_-53-10371insTATTATATATATTATATATAATATAT TATATAAAATATAATATATTTATATAAATATATAAAATATAATGTATTTA TATAAATATATAAAATATAATGTATTTATATAAATATATTATATAAATAT ATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATT ATATAAATATATAATATATAGTCATATATTATATAAATATATAATATATA GTCATATATTATATAAATATATAATATATAGTCATATATTATATAAATAT ATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATT ATATAAATATATAATATATAGTCATATATTATATAAATATATAATATATA GTCATATATTATATAAATATATAATATATAGTCATATATTATATAAATAT ATAATATATAGTCATATATTATATA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
EGFL7_chr9_136657916_136677678	136675347	C C	CAGCAGGG others(444): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGC AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGA GGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAG CAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGC TGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTG GG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	432	0.0023	451	c.30 others(462): Show c.3061_*3062insAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGG GACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAG CAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGG AGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCA GCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGG CTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACT GGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGG GAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGG GGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAG GTAGGCTGGGGACTGGG	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2670		chr9	TogoVar
EHMT1_chr9_137614005_137841127	137716335	G G	GTGTCATG others(444): Show GTGTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGA AGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGG GAGGAAGTTGTGTTGGTGTCATGGGGGAGGAAGTTGTGTTGGTGTCATGG TGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGG TGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGT TGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGG GAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCGTGGTGG GGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGT CATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGT GT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	170	0.0059	451	c.86- others(464): Show c.86-289_86-288insTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGTT GGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGGGGAGGAAGTT GTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGG AGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCAT GGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTT GGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTT GTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGG AAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGT GGGGGAGGAAGTTGTGTTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
FAM227B_chr15_49321970_49625818	49511312	C C	CAAGAACC others(444): Show CAAGAACCTTAGCTATCTGAGGCAGGTGAATCACCTGGGGTCAGCAGTTC GAGACCAGCCTGGCCAAAATGGTGAAACCCCCGTCTCTACTAATAATATA AAAAAAAAAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATTTCAGC TATTCAGGAGGCTGAGGCAAGAGAATTGCATGAACCCGGGAGGCAGAGGT TGCAATGAGCCAAGATTGTGCCATTGCACCCCAGCCTGGGCAACAACAGC GAAACTCCATCTCAACGAAAAAACAGACTTTCGAGTGATCACCATCTCCC ACAATACAACACTCTGAATCACTCTTTTGGAGTTTCACAATGCTGAGTTG TGTAGAGGACCTTAAAGAAGTCCTGCAATTTCAAATTATAAAACAAACAA AATAAACCATTATCCAATCTCTGCCAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	294	0.0034	451	c.875 others(468): Show c.875-2965_875-2964insTTTTTTTTTTTTTTTTTTTTTTTTTTTG GCAGAGATTGGATAATGGTTTATTTTGTTTGTTTTATAATTTGAAATTGC AGGACTTCTTTAAGGTCCTCTACACAACTCAGCATTGTGAAACTCCAAAA GAGTGATTCAGAGTGTTGTATTGTGGGAGATGGTGATCACTCGAAAGTCT GTTTTTTCGTTGAGATGGAGTTTCGCTGTTGTTGCCCAGGCTGGGGTGCA ATGGCACAATCTTGGCTCATTGCAACCTCTGCCTCCCGGGTTCATGCAAT TCTCTTGCCTCAGCCTCCTGAATAGCTGAAATTACAGGTGCCCACCACCA TGCCTGGCTAATTTTTTTTTTTTTTATATTATTAGTAGAGACGGGGGTTT CACCATTTTGGCCAGGCTGGTCTCGAACTGCTGACCCCAGGTGATTCACC TGCCTCAGATAGCTAAGGTTCTT	FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding	10/15			chr15	TogoVar
GABRA3_chrX_152161234_152456315	152182738	C C	CACTATAT others(444): Show CACTATATATACACTATATATGTATAGTATATATACACTATAGTATATAT ACACTATATATATAGTGTATATACACTATATATATAGTATATATACACTA TATATATAGTATATATACACTATATATACACTATATATGTATATATATAC ATATATAGTGTATATATAGTGTATATATACACTGTATATGTATATATAGT GTATATATACACTATATATACACTGTATATGTATATATAGTGTATATATA CACTATACACTGTATATGTATATATAGTGTATATATACACTATACACTGT ATATGTATATATAGTGTATATATACACTATACACTGTATATGTATATATA GTGTATATATACACTATACACTGTATATGTATATATAGTGTATATATACA CTATATATACACTATATAGTGTATATATAGTATATATATACTGTATATAT AT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	204	0.0049	451	c.114 others(470): Show c.1143+6991_1143+6992insATATATATACAGTATATATATACTAT ATATACACTATATAGTGTATATATAGTGTATATATACACTATATATACAT ATACAGTGTATAGTGTATATATACACTATATATACATATACAGTGTATAG TGTATATATACACTATATATACATATACAGTGTATAGTGTATATATACAC TATATATACATATACAGTGTATAGTGTATATATACACTATATATACATAT ACAGTGTATATATAGTGTATATATACACTATATATACATATACAGTGTAT ATATACACTATATATACACTATATATGTATATATATACATATATAGTGTA TATATAGTGTATATATACTATATATATAGTGTATATATACTATATATATA GTGTATATACACTATATATATAGTGTATATATACTATAGTGTATATATAC TATACATATATAGTGTATATATAGT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GABRA3_chrX_152161234_152456315	152182738	C C	CACTATAT others(444): Show CACTATATATACACTATATATGTATAGTATATATACACTATATATAGTAT ATATACACTATATATATAGTGTATATACACTATATATATAGTATATATAC ACTATATATATAGTATATATACACTATATATACACTATATATGTATATAT ATACATATATAGTGTATATATAGTGTATATATACACTGTATATGTATATA TAGTGTATATATACACTATATATACACTGTATATGTATATATAGTGTATA TATACACTATACACTGTATATGTATATATAGTGTATATATACACTATACA CTATGTATATATAGTGTATATATACACTATACACTGTATATGTATATATA GTGTATATATACACTATACACTGTATATGTATATATAGTGTATATATACA CTATATATACACTATATAGTGTATATATAGTATATATATACTGTATATAT AT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0204 a0001c0001t0011g0204	1	204	0.0049	451	c.114 others(470): Show c.1143+6991_1143+6992insATATATATACAGTATATATATACTAT ATATACACTATATAGTGTATATATAGTGTATATATACACTATATATACAT ATACAGTGTATAGTGTATATATACACTATATATACATATACAGTGTATAG TGTATATATACACTATATATACATAGTGTATAGTGTATATATACACTATA TATACATATACAGTGTATAGTGTATATATACACTATATATACATATACAG TGTATATATAGTGTATATATACACTATATATACATATACAGTGTATATAT ACACTATATATACACTATATATGTATATATATACATATATAGTGTATATA TAGTGTATATATACTATATATATAGTGTATATATACTATATATATAGTGT ATATACACTATATATATAGTGTATATATACTATATATAGTGTATATATAC TATACATATATAGTGTATATATAGT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar

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