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
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(366): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTATTATT ATTATTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	438	0.0023	373	c.-29 others(388): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAATAATAAT AATAATAATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(366): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTATTATT ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18993.hp2 NA19089.hp2 NA18944.hp2 NA18993.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0144 a0001c0001t0001g0061 a0001c0001t0001g0144	3	438	0.0069	373	c.-29 others(388): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAAT AATAATAATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(366): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTC GCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	438	0.0023	373	c.-29 others(388): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AATAATAATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(366): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	438	0.0023	373	c.-29 others(388): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AATAATAATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(366): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	438	0.0023	373	c.-29 others(388): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAATAATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(366): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18990.hp1 NA18983.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	2	438	0.0046	373	c.-29 others(388): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAATAATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(366): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	438	0.0023	373	c.-29 others(388): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(366): Show ACTGAATGTACATTATTATTATTATTATTATTATTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	438	0.0023	373	c.-29 others(388): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637550	C C	CCCGCCCG others(366): Show CCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC CGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCC GCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCA CCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC CTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGGAAGTGAGGAGCCCCT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	362	0.0028	373	c.-27 others(390): Show c.-27-2713_-27-2712insAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGG GGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGG GGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OSGIN1_chr16_83948240_83971332	83950683	A A	ACACACGT others(366): Show ACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACGTACACACACGCACACATGAGCACATGTGCACACATGCACAT ACATACTGGCACACACGTACACACATGCATACATGAGCACATGTGCACAC ATGCACATACATACTGGCACACCGTACACGCACACATGAGCACATGTGCA CACATGCCCATACACACTGGCACACACGTACACACACATGCACACATGAG CACATGTGCACACATGCACATACACACTGGCACACACGTACACACACATG CACACATGAGCACATGTGCACACATGCACATACATACCGGCACACGTACA CACATGCACACATGAACACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0006 a0001c0004t0004g0006	1	350	0.0029	373	c.-27 others(384): Show c.-2720_-2719insCACACGTACATGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACGTACACACACGCACACATGAGCACATG TGCACACATGCACATACATACTGGCACACACGTACACACATGCATACATG AGCACATGTGCACACATGCACATACATACTGGCACACCGTACACGCACAC ATGAGCACATGTGCACACATGCCCATACACACTGGCACACACGTACACAC ACATGCACACATGAGCACATGTGCACACATGCACATACACACTGGCACAC ACGTACACACACATGCACACATGAGCACATGTGCACACATGCACATACAT ACCGGCACACGTACACACATGCACACATGAACACATGTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2556		chr16	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(366): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAACATGTATTACATATATGTAATACATATATAACATGTATT ACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18997.hp1 NA18957.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0029 a0001c0001t0001 a0001c0001t0029	a0001c0001t0001g0001 a0001c0001t0029g0003 a0001c0001t0001g0001 a0001c0001t0029g0003	2	400	0.0050	373	c.70 others(384): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTAATACATATATAACATGTATTACATATATGTAATACA TATATAACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PCSK1_chr5_96385333_96438248	96399700	T T	TAAAACAA others(366): Show TAAAACAATGGTGCGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATC AGGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0211 a0001c0004t0001g0211	1	392	0.0026	373	c.143 others(390): Show c.1430+252_1430+253insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGAGTGCAGTGGCCTGATC TCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACTGCGCCCGGCCGCACCATTGTTTT	PCSK1	ENSG00000175426.11	transcript	ENST00000311106.8	protein_coding	10/13			chr5	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(366): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACC CTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCC TGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCC CCCCTCCACCTCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG01517.hp1 others(1): Show HG01109.hp1 HG01243.hp1 HG01517.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0158 a0001c0001t0001g0163 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0164	4	360	0.0111	373	c.35 others(384): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTT ACCTCCCCCCTCACCCTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCC CTCTCCCCCTCATCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCC CCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(366): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAAGAAAAGAAAAAA AGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0168 a0002c0002t0001g0168	1	342	0.0029	373	c.20- others(388): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTCTTTTTTT CTTTTCTTTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PERM1_chr1_970198_987093	977993	C C	CCCACCAA others(366): Show CCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAAC CGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCACTCCCCCCAC CAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCC CGCCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGC CTCCCACCACCCCGCCAACCCCGGGAACCGCCTCCCACCACCCCGCCAAC CCCGGGAACCGCCTGCCCCACCCA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	408	0.0025	373	c.214 others(390): Show c.2149+887_2149+888insTGGGTGGGGCAGGCGGTTCCCGGGGTTG GCGGGGTGGTGGGAGGCGGTTCCCGGGGTTGGCGGGGTGGTGGGAGGCGG TTCCCGGGGTTGGCGGGGTGGTGGGAGGCGGTTCCCGGGGTTGGCGGGGT GGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGG GGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGA GGCGGTTCCCGGGGTTGGTGGCGGGGGCAGGCGGTTCCCGGGGTTGGTGG GGGGAGTGGGAGGCGGTTCCCGGGTTGGTGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(366): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGG GAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAG GAAAGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA AGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGA AGGAAGAAAGGAAGGAAAGAAGGA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0097 a0001c0019t0001g0097	1	134	0.0075	373	c.575 others(394): Show c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTC CTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTC CCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(366): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGA AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAGGGAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA AGGAAGAAAGGAAGGAAAGAAGGA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0023 a0023	a0023c0024 a0023c0024	a0023c0024t0017 a0023c0024t0017	a0023c0024t0017g0081 a0023c0024t0017g0081	1	134	0.0075	373	c.575 others(394): Show c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTCCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC TTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTC CTTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(366): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGA AGGAAGAAAGGAAGGAAAGAAGGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0117 a0001c0002t0001g0117	1	134	0.0075	373	c.575 others(394): Show c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC TTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTC CTTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PRKCA_chr17_66297613_66815743	66799580	G G	GTGGTGGT others(366): Show GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGGGTGGTGGTGATGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0067 a0001c0001t0022g0067	1	178	0.0056	373	c.185 others(392): Show c.1855-4291_1855-4290insGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGGTG GTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAB11FIP3_chr16_420649_528011	492424	T T	TTCCCGGG others(366): Show TTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGG GAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCA GGGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGTCCAGGGCCCT CCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGG GAGACCCGAGGCCGTCCAGGGCCC	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0018 a0001c0001t0004g0018	1	295	0.0034	373	c.126 others(392): Show c.1265+3424_1265+3425insTCCCGGGAGACCCGAGGCCGCCCAGA GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTC CCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGA GACCCGAGGCCGTCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGTCCAGGGCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13			chr16	TogoVar
RGS11_chr16_263307_280944	267540	C C	CATGCATG others(366): Show CATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATCACAC GTGCTATGCATACACACCACACGTGTGCCTCACAGTGCTACACATGCCTC ATACACATGACACGTGCACACACCACATATGCATGCCTCAGTACACCTGC ACACGTGCACTAAACACAATCACACATGCTATGCGTACACACCACACGTG TGCCTCACAGTGCTACACATGCATCCTACACGACACGTGCACACACACCA CACATGCATGCCTCACAGTACACCTGCACACGTGCACTACAATCACACAT GCTATGTGTACACACCACACGTGTGCCTCAGTGCTACACATGCCTCATAC ACACGACACGTGCACACACCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03453.hp1 HG03225.hp1 HG03453.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0002 a0003c0009t0002	a0003c0009t0002g0132 a0003c0009t0002g0136 a0003c0009t0002g0132 a0003c0009t0002g0136	2	456	0.0044	373	c.17 others(384): Show c.1728_*1729insATGTGGTGTGTGCACGTGTCGTGTGTATGAGGCA TGTGTAGCACTGAGGCACACGTGTGGTGTGTACACATAGCATGTGTGATT GTAGTGCACGTGTGCAGGTGTACTGTGAGGCATGCATGTGTGGTGTGTGT GCACGTGTCGTGTAGGATGCATGTGTAGCACTGTGAGGCACACGTGTGGT GTGTACGCATAGCATGTGTGATTGTGTTTAGTGCACGTGTGCAGGTGTAC TGAGGCATGCATATGTGGTGTGTGCACGTGTCATGTGTATGAGGCATGTG TAGCACTGTGAGGCACACGTGTGGTGTGTATGCATAGCACGTGTGATTGT GTGTAGTGCACGTGTGCAGGTGTACTGTGAGGCATGCAT	RGS11	ENSG00000076344.16	transcript	ENST00000397770.8	protein_coding		766		chr16	TogoVar
RGS12_chr4_3288021_3444913	3341528	A A	ATGGTGTG others(366): Show ATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGA GGGTGGAGAGTTGGGGGTGTGGGGGGGGGGGAGGGTGGAGAGATGGGGGT GTGGGCGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGG TGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGG GAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGAGGGTGGAGAGAT GGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGA CAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTG TGGGGGGAGGGGAGGGTGGAGAGT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	312	0.0032	373	c.188 others(392): Show c.1882-1406_1882-1405insTGTGGGGGGAGGGAGGGTGGAGAGAT GGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGGGGG GAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGGGG GTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTG GAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGG GGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAG ATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGG AGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RNF17_chr13_24759169_24884921	24881947	G G	GATATATA others(366): Show GATATATAATCTATATAGATATATAATCTATATAGATATATAGATACATC TATATAGATATATAGATACATCTATATAGATATATAGATACATCTATATA GATATATAGATACATCTATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	426	0.0024	373	c.22 others(384): Show c.2221_*2222insATATATAATCTATATAGATATATAATCTATATAG ATATATAGATACATCTATATAGATATATAGATACATCTATATAGATATAT AGATACATCTATATAGATATATAGATACATCTATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2027		chr13	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(366): Show GGAGGAGGAGGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGAGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGGAGGAGGAGGG AGGGAGGGAGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGAG GGAGGAGAGAAGGGAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAGGAAGA AGAGGAAGAGGAAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAG AAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGA GGAGGAGAAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	396	0.0025	373	c.807 others(390): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTT CCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCTTCTCTCCTCCCTCT CCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCTCCCTCCCTCCCT CCTCCTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCTCCTCCC TCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCC TCCTCCTCCCTCCCCCTCCCTCCCCCTCCCTCCTCCCTCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
SDK1_chr7_3296252_4274000	3976981	T T	TGAGGCTG others(366): Show TGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGG CTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGG GCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGG GGCTGAGGCTGCCACACAGGGGGCCCTCCAGAGAATCACTGAGGGTCCCG GGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCC GGGGCTGAGGCTGCGAGGCTACCACACAGACGGTCCTCCAGAGAATCACT GGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCAC TGGGGGTCCCGGGGCTGAGGCTGC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0096 a0001c0008t0004g0096	1	116	0.0086	373	c.199 others(392): Show c.1994+2455_1994+2456insTCCTCCAGAGAATCACTGAGGGTCCC GGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCC CGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTC CCGGGGCTGAGGCTGCCACACAGGGGGCCCTCCAGAGAATCACTGAGGGT CCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGG TCCCGGGGCTGAGGCTGCGAGGCTACCACACAGACGGTCCTCCAGAGAAT CACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACGCAGAGGG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(366): Show CATATATATATTCCCTATATATATATTCCCTATATATATATTCCATATAT ATATATTCCCTATATATATATTCCATATATATATATTCCCTATATATATA TTCCATATATATATATTCCCTATATATATATTCCATATATATATATTCCC TATATATATATTCCCTATATATATATTCCATATATATATATTCCATATAT ATATTCCATATATATATATTCCATATATATATATTTCATATATATATATT CCATATATATATTCCATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATTCCATATATATATATATATATATATT CCATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA19004.hp1 NA18980.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0113 a0001c0001t0001g0103 a0001c0001t0001g0113	2	324	0.0062	373	c.115 others(390): Show c.115-2706_115-2705insATATATATATATATATATATATGGAATA TATATATATATATATATATGGAATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATGGAATATATATATGGAATA TATATATATGAAATATATATATATGGAATATATATATATGGAATATATAT ATGGAATATATATATATGGAATATATATATAGGGAATATATATATAGGGA ATATATATATATGGAATATATATATAGGGAATATATATATATGGAATATA TATATAGGGAATATATATATATGGAATATATATATAGGGAATATATATAT ATGGAATATATATATAGGGAATATATATATAGGGAATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SLC12A6_chr15_34224784_34342781	34310174	A A	AGTGTGTG others(366): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCCCTGTGTCCAGGCTGGTG AACTCCTGGGCTCAAGTGTGTGTGTGTGTCCCCGTATCCAGGCTGGTGTT GAACTCCTGGGCTCAAGTGTGTGTGTGTGTGTGTCCCCGTGTCCAGGCTG GTGTTGAACTCCTGGGCTCAAGTGTGTGTGTGTGTCCCTGTGTCCAGGCT GGTGTTGAACTCCTGGGCTCGTGTGTGTGTGTGTGTGTGTGTGTGTCCCC ATGTCCAGGCTGGTGTTGAACTCCTGGGCTCAAGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTATGTATGTGTGTGTCCCCGTGGCCAGGCT GGTGTTGAACTCCTGGGCTCAAGT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03516.hp1 HG03579.hp2 HG02559.hp2 HG03516.hp1 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0017 a0001c0001 a0003c0017	a0001c0001t0001 a0003c0017t0001 a0001c0001t0001 a0003c0017t0001	a0001c0001t0001g0016 a0001c0001t0001g0018 a0003c0017t0001g0017 a0001c0001t0001g0016 a0001c0001t0001g0018 a0003c0017t0001g0017	3	274	0.0110	373	c.271 others(392): Show c.271+26235_271+26236insACTTGAGCCCAGGAGTTCAACACCAG CCTGGCCACGGGGACACACACATACATACACACACACACACACACACACA CACACACACACACACTTGAGCCCAGGAGTTCAACACCAGCCTGGACATGG GGACACACACACACACACACACACACACGAGCCCAGGAGTTCAACACCAG CCTGGACACAGGGACACACACACACACTTGAGCCCAGGAGTTCAACACCA GCCTGGACACGGGGACACACACACACACACACTTGAGCCCAGGAGTTCAA CACCAGCCTGGATACGGGGACACACACACACACTTGAGCCCAGGAGTTCA CCAGCCTGGACACAGGGACACACACACACACACACACACACACACAC	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92143358	C C	CATATATA others(366): Show CATATATATATTATATAATATATATATAAAATATATATATATTATATAAT ATATATATAAAATATATATATATTATATAATATATATATAAAATATATAT ATATTATATATAAAATATATATATTATATAATATATATATAAAATATATA TATTATATAATATATATATAAAATATATATATTATATAATATATGTAATA TTATATATAATATATATATTATATATATTATATATTATATATATTATATA TATTATATATAATATATATTATATATTATATATATTATATATATTATATA TAATATATTATATATAATATATATAATATATATAATATATATATTATATA TAATATATATAATATATATAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0048 a0001c0001t0005g0048	1	190	0.0053	373	c.151 others(392): Show c.1513-3601_1513-3600insTAAAATATATATATATTATATAATAT ATATATAAAATATATATATATTATATAATATATATATAAAATATATATAT ATTATATATAAAATATATATATTATATAATATATATATAAAATATATATA TTATATAATATATATATAAAATATATATATTATATAATATATGTAATATT ATATATAATATATATATTATATATATTATATATTATATATATTATATATA TTATATATAATATATATTATATATTATATATATTATATATATTATATATA ATATATTATATATAATATATATAATATATATAATATATATATTATATATA ATATATATAATATATATAAAAAATATATATATTATATAATATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92143358	C C	CATATATA others(366): Show CATATATATATTATATAATATATATATAAAATATATATATATTATATAAT ATATATATAAAATATATATATATTATATATAAAATATATATATTATATAA TATATATATAAAATATATATATTATATAATATATATATAAAATATATATA TTATATAATATATATATAAAATATATATATTATATAATATATGTAATATT ATATATAATATATATATTATATATATTATATATTATATATATTATATATA TTATATATAATATATATATTATATATTATATATATTATATATATTATATA TAATATATTATATATAATATATATAATATATATAATATATATATTATATA TAATATATATAATATATATAAAAA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18979.hp2 NA18612.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0004g0086 a0001c0002t0002g0047 a0001c0001t0004g0086 a0001c0002t0002g0047	2	190	0.0105	373	c.151 others(392): Show c.1513-3601_1513-3600insTAAAATATATATATATTATATAATAT ATATATAAAATATATATATATTATATATAAAATATATATATTATATAATA TATATATAAAATATATATATTATATAATATATATATAAAATATATATATT ATATAATATATATATAAAATATATATATTATATAATATATGTAATATTAT ATATAATATATATATTATATATATTATATATTATATATATTATATATATT ATATATAATATATATATTATATATTATATATATTATATATATTATATATA ATATATTATATATAATATATATAATATATATAATATATATATTATATATA ATATATATAATATATATAAAAAATATATATATTATATAATATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SPAG16_chr2_213279464_214415501	213833548	A A	AATATATA others(366): Show AATATATATATAATATATATATTATATATAATATATATTATATATAATAT ATAATATATATAATATATATATTATATATATAATATATATATTATATATA TTATATATATATTATATATATAATATATATATTATATATAATATATATAT TATATATATTATATATATATTATATATATAATATATATATTATATATATA ATATATATATTATATATATAATATATATATTATATATAATATATATATAA TATATATATTATATATATTATATATAATATATATATTATATATATAATAT ATATATTATATATAATATATATATAATATATATATTATATATATATTATA TATAATATATATATTATATATAAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	86	0.0116	373	c.107 others(394): Show c.1071-28928_1071-28927insTAATATATATATTATATATAATAT ATATTATATATAATATATAATATATATAATATATATATTATATATATAAT ATATATATTATATATATTATATATATATTATATATATAATATATATATTA TATATAATATATATATTATATATATTATATATATATTATATATATAATAT ATATATTATATATATAATATATATATTATATATATAATATATATATTATA TATAATATATATATAATATATATATTATATATATTATATATAATATATAT ATTATATATATAATATATATATTATATATAATATATATATAATATATATA TTATATATATATTATATATAATATATATATTATATATAATATATATATA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213833548	A A	AATATATA others(366): Show AATATATATATAATATATATATTATATATAATATATATTATATATAATAT ATAATATATATAATATATATATTATATATATAATATATATATTATATATA TTATATATATATTATATATATAATATATATATTATATATAATATATATAT TATATATATTATATATATATTATATATATAATATATATATTATATATATA ATATATATATTATATATATAATATATATATTATATATAATATATATATAA TATATATATTATATATATTATATATAATATATATATTATATATATATTAT ATATATTATATATAATATATATATAATATATATATTATATATATATTATA TATAATATATATATTATATATAAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	86	0.0116	373	c.107 others(394): Show c.1071-28928_1071-28927insTAATATATATATTATATATAATAT ATATTATATATAATATATAATATATATAATATATATATTATATATATAAT ATATATATTATATATATTATATATATATTATATATATAATATATATATTA TATATAATATATATATTATATATATTATATATATATTATATATATAATAT ATATATTATATATATAATATATATATTATATATATAATATATATATTATA TATAATATATATATAATATATATATTATATATATTATATATAATATATAT ATTATATATATATTATATATATTATATATAATATATATATAATATATATA TTATATATATATTATATATAATATATATATTATATATAATATATATATA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA13_chr13_24155720_24312069	24190154	T T	TAATGATA others(366): Show TAATGATATATAATATATATCATTATATAACATATAATGATATATAATAT ATATCATTATATAACATATAATGATATATAATATATATCATTATATAACA TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATTATATAACATGATG	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA20300.hp2 HG01074.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0025 a0001c0001 a0002c0025	a0001c0001t0024 a0002c0025t0016 a0001c0001t0024 a0002c0025t0016	a0001c0001t0024g0040 a0002c0025t0016g0337 a0001c0001t0024g0040 a0002c0025t0016g0337	2	356	0.0056	373	c.-11 others(394): Show c.-112+29223_-112+29224insATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATTATATAACATGATGA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(366): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAAGGGGGAAGGGGAGGGGGAGGTG GGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGGA AGCGGGAACGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGG GGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGA GGGGGAGGGGGAGGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGGGGG AGGGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGATATGGGGAG GGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0012 a0004c0005t0012	a0004c0005t0012g0093 a0004c0005t0012g0093	1	251	0.0040	373	c.34 others(382): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATATCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCCTCCCCCTTCCCCC TCCCCCCTCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCTCCCCCTCCCCA TCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCC CCCCTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCCTCCCC CGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCACCTCCCCCTC CCCTTCCCCCTTCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTC CCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(366): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGGAGGGG GGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGG GGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGG GGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGGAGGGGAGGGGAGGG GAGGGGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0187 a0002c0002t0002g0187	1	260	0.0039	373	c.138 others(392): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCCC CTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCC CTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCC CCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(366): Show AGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGGAGGGGG GGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAG GGGGGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGG GAGGGGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0177 a0002c0002t0002g0177	1	260	0.0039	373	c.138 others(392): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCCC CTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCCCCCCT CCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCC CCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(366): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGGG GGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGAG AGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAG GGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG GAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGA GAGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA20805.hp1 HG00323.hp1 NA20805.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0023 a0001c0005t0075 a0001c0005t0023 a0001c0005t0075	a0001c0005t0023g0027 a0001c0005t0075g0146 a0001c0005t0023g0027 a0001c0005t0075g0146	2	276	0.0073	373	c.-18 others(392): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCTCTC TCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCC CCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCT CCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCTCCCC CCCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCC TCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTCC CCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(366): Show GGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGTGGGGAGGGAGAGAGAGA AGGGGAGGCGGAGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAG GGGGGAGAGAGGGGGAGGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAG GGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGA GGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGA GGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGG GAGGGAGGGGGGAGAGAGAGGGGGAGGGGGGGGAGAGAGAGGGGGAGGGA GGGAGGGAGGGAGGGAGGGAGAGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0102 a0001c0007t0102	a0001c0007t0102g0187 a0001c0007t0102g0187	1	276	0.0036	373	c.-18 others(392): Show c.-18+37479_-18+37480insTCTCTCCCTCCCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCC CCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTC TCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTC TCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCT CTCTCCCCCCTCCCTCCCCCTCTCTCCCCCCCTCCCCCTCTCTCCCCCCT CCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCTCCGCCTCCCCTTC TCTCTCTCCCTCCCCACTCTCTCCCCCTCCCCCTCTCTCTCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(366): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC GGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGAGGGAGGGTGCAGCAGGCG GATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGCGT GGAGGGGGAGGGAGGGTGTGGGGGGAGGGAGAGGGCGGCGGGAGGAGGGA GGGGGCGGCGGGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGCATGGGG GGAGGGAGGGGGCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00438.hp1 others(37): Show HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00673.hp2 HG01167.hp1 HG01169.hp1 HG01258.hp2 HG02040.hp1 HG02080.hp2 HG02083.hp2 HG02155.hp1 HG02165.hp1 HG02273.hp2 HG02300.hp2 HG02683.hp1 HG03239.hp1 HG04184.hp2 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18950.hp1 NA18959.hp1 NA18962.hp2 NA18966.hp2 NA18967.hp1 NA18971.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18999.hp2 NA19007.hp1 NA19067.hp2 NA19080.hp2 NA19085.hp2 NA19091.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0009 a0020 a0025 a0032	a0001c0001 a0001c0016 a0001c0017 others(7): Show a0001c0001 a0001c0016 a0001c0017 a0002c0006 a0002c0053 a0004c0010 a0009c0042 a0020c0055 a0025c0058 a0032c0056	a0001c0001t0001 a0001c0001t0003 a0001c0016t0001 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0016t0001 a0001c0017t0001 a0002c0006t0001 a0002c0006t0011 a0002c0053t0001 a0004c0010t0001 a0009c0042t0001 a0020c0055t0001 a0025c0058t0001 a0032c0056t0001	a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 others(37): Show a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0003g0163 a0001c0016t0001g0301 a0001c0017t0001g0313 a0002c0006t0001g0293 a0002c0006t0001g0294 a0002c0006t0001g0296 a0002c0006t0001g0297 a0002c0006t0001g0298 a0002c0006t0001g0300 a0002c0006t0011g0299 a0002c0053t0001g0295 a0004c0010t0001g0013 a0009c0042t0001g0180 a0020c0055t0001g0304 a0025c0058t0001g0310 a0032c0056t0001g0305	40	314	0.1274	373	c.309 others(392): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCTC CCTCCTCCCGCCGCCCTCTCCCTCCCCCCACACCCTCCCTCCCCCTCCAC GCCCTCCCTCCCCCCCGCCGCCCCCTCCCTCCCCCCACGCCCTCCATCCG CCTGCTGCACCCTCCCTCCCCCCATGCCCTCCCTACCCCCGCCACCCCTC CCTCTCCCCGCCGCCCCCTCCCTCCCCCCACCACCCCCTCCTTTCCCCGC CGTCTCCTCCTTCCCCCCACCACAACCTCCCTCCCCCACCACACCCTCCC CCCACTGCACCCTCCCTCCCCTGCCACCCCTTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TERT_chr5_1248167_1300068	1272940	C C	CACGACCG others(366): Show CACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCAC AGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAG ACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCC ATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACA CATCAGACCCCACAACCGCCATCCACAGTCACCACATCAGACCCCACGAC CGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCAC CACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCA CGACCGCCATCCACAGTCACCACA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0314 a0001c0003t0001g0314	1	392	0.0026	373	c.228 others(390): Show c.2287-661_2287-660insTGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273733	C C	CCACATCA others(366): Show CCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA GACCCCACGACTGCCATCCACAGTCACCACACATCAGACCCCTGTGACCG ATCACCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAG TCACCACACATCAGACCCCTGTGACCGATCACCATCCACAGTCACCACAC ATCAGACCCCACGACTGCCATCCACAGTCACCACACATCAGACCCCTGTG ACCGATCACCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	392	0.0026	373	c.228 others(392): Show c.2287-1454_2287-1453insTGGTGACTGTGGATGGTGATCGGTCA CAGGGGTCTGATGTGTGGTGACTGTGGATGGCAGTCGTGGGGTCTGATGT GTGGTGACTGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGTGATCG GTCACAGGGGTCTGATGTGTGGTGACTGTGGATGGCAGTCGTGGGGTCTG ATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTG TGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGT GGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TMEM132B_chr12_125181386_125667369	125612926	T T	TTGTATAA others(366): Show TTGTATAAAAATATATATCATATATATTTATATATTGTATAAAAATATAT ATATCATATATATTTATATATTGTATAAAAATATATATATCATATATATT TATATATTATATAAAAATATATATATCATATATATTTATATATTATATAA AAATATATATATCATATATATTTATATATTATATAAAAATATATATATCA TATATATTTATATATTATATAAAAATATATGTATCATATATATTTATATA TTATATATTATATATTTATATTTTATTTTTATATTTATATTATATATATT TTTTATATTTATATTTATATATCATATTATATTTATATATTATATAAAAA TATCATATATATTTATATATTATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02723.hp1 HG02451.hp1 HG02723.hp1	a0003 a0006 a0003 a0006	a0003c0039 a0006c0040 a0003c0039 a0006c0040	a0003c0039t0002 a0006c0040t0031 a0003c0039t0002 a0006c0040t0031	a0003c0039t0002g0128 a0006c0040t0031g0077 a0003c0039t0002g0128 a0006c0040t0031g0077	2	128	0.0156	373	c.143 others(394): Show c.1437+28933_1437+28934insGTATAAAAATATATATCATATATA TTTATATATTGTATAAAAATATATATATCATATATATTTATATATTGTAT AAAAATATATATATCATATATATTTATATATTATATAAAAATATATATAT CATATATATTTATATATTATATAAAAATATATATATCATATATATTTATA TATTATATAAAAATATATATATCATATATATTTATATATTATATAAAAAT ATATGTATCATATATATTTATATATTATATATTATATATTTATATTTTAT TTTTATATTTATATTATATATATTTTTTATATTTATATTTATATATCATA TTATATTTATATATTATATAAAAATATCATATATATTTATATATTATAT	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM242_chr6_157284025_157328519	157312899	T T	TCCCAGTG others(366): Show TCCCAGTGTGCGCTAACCTAGTCTCATCATAGTTTCCCAGTGTGGGCTCA CCTAGCCTCATCATAGTGCCCCACTGTCTACTCACCTAGCCTCATCATAG TGCCCCATTGTGCGCTCACCTAGCCTCATCATAGTGTCCCAGTGTGCACT CACCTGGCCTCATCATAGTGTCCCAGTGTGCGCTCACCCTGCCTCATCAT AGTGAACCACTGTGCGCTCACGTAGCCTCATCATAGTGTCCCAGTGTGCG CTCACCCGGCCTCATCATAGTGTCCCAGTGTGCACTCACCTAGACTCATC ATAATGCCCCAGTATCCGCTCACCTAGCCTCATCATAGTTTCCCAGTGAG CGCTCACCCGGCCTCATCATACTG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19064.hp1 NA18943.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	2	344	0.0058	373	c.327 others(390): Show c.327+5882_327+5883insCAGTATGATGAGGCCGGGTGAGCGCTCA CTGGGAAACTATGATGAGGCTAGGTGAGCGGATACTGGGGCATTATGATG AGTCTAGGTGAGTGCACACTGGGACACTATGATGAGGCCGGGTGAGCGCA CACTGGGACACTATGATGAGGCTACGTGAGCGCACAGTGGTTCACTATGA TGAGGCAGGGTGAGCGCACACTGGGACACTATGATGAGGCCAGGTGAGTG CACACTGGGACACTATGATGAGGCTAGGTGAGCGCACAATGGGGCACTAT GATGAGGCTAGGTGAGTAGACAGTGGGGCACTATGATGAGGCTAGGTGAG CCCACACTGGGAAACTATGATGAGACTAGGTTAGCGCACACTGGG	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMPRSS2_chr21_41459305_41513158	41474464	T T	TGAGGGGG others(366): Show TGAGGGGGTGAAGGCGTGAGTGAGGGGGTAAGGGGATGAGTGAGGGGGTG AGGGGGTGAGGGGTGAGTGAGGGGGCGAGGGGGTGAGTGAGGGGGCGAGG GGGTGAGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGGTGAGTGAGGGGGC GAGGGGGTGAGTGAGGAGGTGAGCGGGTGAGTGAGGAGGTGAGGGGGTGA GTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGT GAGGGGGTGAGGGGGTGAGTGAGGAGGTGAGGGGATGAGTGAGGAGGTGA GGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGGGTGAGTGAGGAGGTGAGG GGATGAGTGAGGGGGTGAGGGGGC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0034 a0001c0001t0018g0034	1	382	0.0026	373	c.728 others(388): Show c.728-969_728-968insGCCCCCTCACCCCCTCACTCATCCCCTCAC CTCCTCACTCACCCCCTCACCCCCTCACCCCCTCACTCACCCCCTCACCT CCTCACTCATCCCCTCACCTCCTCACTCACCCCCTCACCCCCTCACCCCC TCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACTCACCC CCTCACCTCCTCACTCACCCGCTCACCTCCTCACTCACCCCCTCGCCCCC TCACTCACCCCTCACCCCCTCACCCCCTCACTCACCCCTCACCCCCTCGC CCCCTCACTCACCCCCTCGCCCCCTCACTCACCCCTCACCCCCTCACCCC CTCACTCATCCCCTTACCCCCTCACTCACGCCTTCACCCCCTC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TOLLIP_chr11_1269371_1314632	1287619	G G	GCCTCCCC others(366): Show GCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCC GCCGCAGCCTCCCCGCCGCACCCGCCGCAGCCTCCCCGCCGCACCCTCCC CGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCACCGCCGCAC CCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCG CCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCC TCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCC GCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTC CCCGCCGCAGCCTCCCCGCCGCAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0315 a0001c0001t0004g0315	1	348	0.0029	373	c.519 others(390): Show c.519+1004_519+1005insGTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCG GGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCT GCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGG GAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGC GGCGGTGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGA GGGTGCGGCGGGGAGGCTGCGGCGGGTGCGGCGGGGAGGCTGCGGCGGGG AGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TPSD1_chr16_1251069_1264008	1258770	T T	TCCTGAGC others(366): Show TCCTGAGCCCCTTCCCCTTTCTTGAGTCCCTCCCCCACCCTGAGCCCCTT CCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCCTCCCCTTTCTTGA GCCCCTCATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCCCAT CCTGGGCCCCCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCCT CCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGA GTCCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCCTCCTCCAC CCTCAGCCCCCTCCCCTTTCTTGAGCCCCTCCTCCACCCTCAGCCCCCTC CCCTTTCTTGAGCCCCTCCCCCAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0001 a0001c0001t0055g0001	1	270	0.0037	373	c.40 others(382): Show c.404_*405insTTCCCCTTTCTTGAGTCCCTCCCCCACCCTGAGCCC CTTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCCTCCCCTTTCT TGAGCCCCTCATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCC CATCCTGGGCCCCCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCC CCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCT TGAGTCCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCCTCCTC CACCCTCAGCCCCCTCCCCTTTCTTGAGCCCCTCCTCCACCCTCAGCCCC CTCCCCTTTCTTGAGCCCCTCCCCCACCCTGAGCCCC	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	5/5	405	INFO_REALIGN_3_PRIME	chr16	TogoVar
TSNARE1_chr8_142207080_142408182	142261000	G G	GGTGGGGA others(366): Show GGTGGGGAGGGAGGAGAGAGGGAGGAGAGAGACAGGAGGGAGGAAGGGAG GAGGGAAGCAGGAGGGAAGGAGAAAAGAGGGAGGAGGAGGGAGGGTGAGG GAGGGGAGAGGGAGGGAGGGAGGAGAGAGGGAGGAAGGGAGGAGGGAAGC AGGAGGGAGGGAGGAGAGGAAGAAGGAGGAGGGAGGCAGCAGAAAGGGAG GTAGGAGGAAAGGAGGAGAGAGGGAGAAGGGAGGGAGGAGACAGGGAGGG AGAGAGGGAGGGAGGAAGAAGGGAAGGAGGAGAGAGGGAAGAGGGAGGAG AGAAGGAGGAGGGAGGAAGGAAAGAGGGAGGGAGAAAGGTAGGAGGACGG GAGGAGAGAGGGAGGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01109.hp1 HG01496.hp2 others(4): Show HG01099.hp1 HG01109.hp1 HG01496.hp2 HG02080.hp1 HG02258.hp2 NA18949.hp2 NA19074.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0006c0005	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0002 a0003c0003t0003 a0006c0005t0002	a0001c0001t0001g0016 a0001c0001t0001g0084 a0001c0001t0002g0021 others(4): Show a0001c0001t0001g0016 a0001c0001t0001g0084 a0001c0001t0002g0021 a0002c0002t0001g0007 a0003c0003t0002g0107 a0003c0003t0003g0099 a0006c0005t0002g0229	7	238	0.0294	373	c.144 others(394): Show c.1446+13780_1446+13781insTCCCTCCTCCCTCCCTCTCTCCTC CCGTCCTCCTACCTTTCTCCCTCCCTCTTTCCTTCCTCCCTCCTCCTTCT CTCCTCCCTCTTCCCTCTCTCCTCCTTCCCTTCTTCCTCCCTCCCTCTCT CCCTCCCTGTCTCCTCCCTCCCTTCTCCCTCTCTCCTCCTTTCCTCCTAC CTCCCTTTCTGCTGCCTCCCTCCTCCTTCTTCCTCTCCTCCCTCCCTCCT GCTTCCCTCCTCCCTTCCTCCCTCTCTCCTCCCTCCCTCCCTCTCCCCTC CCTCACCCTCCCTCCTCCTCCCTCTTTTCTCCTTCCCTCCTGCTTCCCTC CTCCCTTCCTCCCTCCTGTCTCTCTCCTCCCTCTCTCCTCCCTCCCCAC	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	12/13			chr8	TogoVar
TSNARE1_chr8_142207080_142408182	142261001	T T	TGGGGAGG others(366): Show TGGGGAGGGAGGAGAGAGGGAGGAGAGAGACAGGAGGGAGGAAGGGAGGA GGGAAGCAGGAGGGAAGGAGAAAAGAGGGAGGAGGAGGGAGGGTGAGGGA GGGGAGAGGGAGGGAGGGAGGAGAGAGGGAGGAAGGGAGGAGGGAAGCAG GAGGGAGGGAGGAGAGGAAGAAGGAGGAGGGAGGCAGCAGAAAGGGAGGT AGGAGGAAAGGAGGAGAGAGGGAGAAGGGAGGGAGGAGACAGGGAGGGAG AGAGGGAGGGGAGGAAGAAGGGAAGGAGGAGAGAGGGAAGAGGGAGGAGA GAAGGAGGAGGGAGGAAGGAAAGAGGGAGGGAGAAAGGTAGGAGGACGGG AGGAGAGAGGGAGGGAGGAGGGAG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	238	0.0042	373	c.144 others(394): Show c.1446+13779_1446+13780insCTCCCTCCTCCCTCCCTCTCTCCT CCCGTCCTCCTACCTTTCTCCCTCCCTCTTTCCTTCCTCCCTCCTCCTTC TCTCCTCCCTCTTCCCTCTCTCCTCCTTCCCTTCTTCCTCCCCTCCCTCT CTCCCTCCCTGTCTCCTCCCTCCCTTCTCCCTCTCTCCTCCTTTCCTCCT ACCTCCCTTTCTGCTGCCTCCCTCCTCCTTCTTCCTCTCCTCCCTCCCTC CTGCTTCCCTCCTCCCTTCCTCCCTCTCTCCTCCCTCCCTCCCTCTCCCC TCCCTCACCCTCCCTCCTCCTCCCTCTTTTCTCCTTCCCTCCTGCTTCCC TCCTCCCTTCCTCCCTCCTGTCTCTCTCCTCCCTCTCTCCTCCCTCCCC	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	12/13			chr8	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGGTTCG others(366): Show CGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGC TGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGCTCGGA GGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGG GATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGG CTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATG GGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCG GAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGT GGGACGGGGGTCGGGTTCGGCTCG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0132 a0001c0002t0001g0132	1	344	0.0029	373	c.218 others(390): Show c.2182+158_2182+159insGGTTCGGCTCGGAGGCTGTGGGACGGGG GTCGGGTGGGGCTTGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAG GCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGG ATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGT GGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTC GGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGA CGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTG GGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
UNC80_chr2_209766832_210004296	209903554	T T	TATATATA others(366): Show TATATATACTATATATATTATATATAGTATATATGTAATATATATACTAT ATATATTATATATAGTATATATGTAATATATATACTATATATATTATATA TAGTATATATGTAATATATATACTATATATATTATATATGTAATATATAT ACTATATATAGTATATATGTAATATATATATACTATATATAGTATATATG TAATATATATACTATATATAGTATATATGTAATATATACTATATATAGTA TATATGTAATATATATACTATATATAGTATATATGTAATATATATACTAT ATATAGTATATATGTAATATATATACTATATATAGTATATATGTAATATA TATACTATATATAGTATATATGTA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0151 a0001c0008t0004g0151	1	188	0.0053	373	c.458 others(392): Show c.4582-1204_4582-1203insCTATATATATTATATATAGTATATAT GTAATATATATACTATATATATTATATATAGTATATATGTAATATATATA CTATATATATTATATATAGTATATATGTAATATATATACTATATATATTA TATATGTAATATATATACTATATATAGTATATATGTAATATATATATACT ATATATAGTATATATGTAATATATATACTATATATAGTATATATGTAATA TATACTATATATAGTATATATGTAATATATATACTATATATAGTATATAT GTAATATATATACTATATATAGTATATATGTAATATATATACTATATATA GTATATATGTAATATATATACTATATATAGTATATATGTAATATATA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	28/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
VCX3B_chrX_8459830_8471510	8467175	T T	TGTGTGGG others(366): Show TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGGAGGAAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	271	0.0037	373	c.79 others(382): Show c.792_*793insGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		666		chrX	TogoVar

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