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
PPP1R7_chr2_241145467_241188652	241178692	C C	CGCTCACT others(697): Show CGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGGTTACAGGCATCCGCCACCATGCCCAGCTAGTT TTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCCAATCTTTTCTCTG GTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCTCGGCCGGGTGCGG TCAGGAGATCGAGACCATCCTGGCTAACACCATCGCTACTAAAACTACAA AAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACAGTGCGAGACTCCA TCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGAAATATGCCAAAAT GAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTTTATACTCTATAGT TCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTTTTTTTTTTTTTTT TTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAATGTAGTGGCGCGA TCTCG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0068 a0001c0001t0006g0068	1	100	0.0100	704	c.907 others(721): Show c.907-3947_907-3946insCAACCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGTTACAGGCATCCGCCACCA TGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCC AATCTTTTCTCTGGTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCT CGGCCGGGTGCGGTCAGGAGATCGAGACCATCCTGGCTAACACCATCGCT ACTAAAACTACAAAAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTC TCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCA GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACA GTGCGAGACTCCATCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGA AATATGCCAAAATGAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTT TATACTCTATAGTTCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTT TTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAA TGTAGTGGCGCGATCTCGGCTCACTG	PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRDM16_chr1_3064203_3443621	3162852	G G	GGCCCCCG others(697): Show GGCCCCCGGCTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCC CGGCTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCAT GGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGG TCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTC TAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCTA GAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCCGGCTCTAGAGGGC TTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTT TGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTG GGAGAGGGGATGTGCGCAGAAGCCCCCGGCTCTAGAGGGCTTTGGGAGAG GGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGG GATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGA TGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATG TGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTG CGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCG CAGAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02055.hp1 HG02809.hp2 others(4): Show HG01123.hp2 HG02055.hp1 HG02809.hp2 HG02895.hp2 HG03209.hp1 HG03471.hp2 HG03486.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0004 a0002c0003 others(2): Show a0001c0001 a0001c0004 a0002c0003 a0002c0007 a0005c0024	a0001c0001t0012 a0001c0001t0042 a0001c0001t0077 others(4): Show a0001c0001t0012 a0001c0001t0042 a0001c0001t0077 a0001c0004t0025 a0002c0003t0004 a0002c0007t0001 a0005c0024t0007	a0001c0001t0012g0129 a0001c0001t0042g0124 a0001c0001t0077g0036 others(4): Show a0001c0001t0012g0129 a0001c0001t0042g0124 a0001c0001t0077g0036 a0001c0004t0025g0205 a0002c0003t0004g0068 a0002c0007t0001g0001 a0005c0024t0007g0173	7	180	0.0389	704	c.38- others(721): Show c.38-23224_38-23223insCGGCTCTAGAGGGCTTTGGGAGAGGGGA TGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATG TGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTG CGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCG CAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCA GAAGCCCCCGGCTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCC CCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCC TGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCCG GCTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGG TCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTC TAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCTA GAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGA GGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGG GCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCCGGCTCTAGAGGGCTTTG GGAGAGGGGATGTGCGCAGAAGCCCC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAB11FIP3_chr16_420649_528011	467520	G G	GGGGGCGT others(697): Show GGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGAGGAGGTGCTGGGGC CTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAG GGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGA GGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGT GCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCA GGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGG AGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTCC TGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGC GTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGG GAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0059 a0001c0001t0003g0059	1	267	0.0037	704	c.809 others(721): Show c.809-3754_809-3753insGGGGGCCTCAGGGAGGAGGTGCTGGGGC CTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAG GGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGA GGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGT GCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCA GGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGG AGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTCC TGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGC GTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGG GAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCTGGGGCGTCAGGGAGGAGGTGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	467520	G G	GGGGGCGT others(697): Show GGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGAGGAGGTGCTGGGGC CTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAG GGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGA GGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGT GCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCA GGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGG AGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGC AGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGC GTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGG GAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01975.hp2 HG02083.hp1 others(7): Show HG00673.hp2 HG01975.hp2 HG02083.hp1 NA18946.hp1 NA18954.hp1 NA18966.hp1 NA18971.hp1 NA19007.hp1 NA19011.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0017	a0001c0001t0003g0219 a0001c0001t0004g0053 a0001c0001t0004g0054 others(7): Show a0001c0001t0003g0219 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0058 a0001c0001t0004g0066 a0001c0001t0004g0088 a0001c0001t0004g0090 a0001c0001t0008g0062 a0001c0001t0017g0049	10	276	0.0362	704	c.809 others(721): Show c.809-3754_809-3753insGGGGGCCTCAGGGAGGAGGTGCTGGGGC CTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAG GGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGA GGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGT GCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCA GGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGG AGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGC AGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGC GTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGG GAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCTGGGGCGTCAGGGAGGAGGTGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(697): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATAATATGTAA TACACAATATATTATATAATAATATGTAATACACAATATATTATATAATA ATATGTAATACACAATATATTATATAATAATATGTAATACACAATATATT ATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACAC AATATATTATATAATAATATGTAATACACAATATATTATATAATAATATG TAATACACAATATATTATATAATAATATGTAATACACAATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATAATATGTAATACATTATACATTATTATATAAG TATATGTAATACATTATACATTATTATATAAGTATATGTAATATATATTA TACATTATTATATAAGTATATGTAATATATATTATACATTATTATATAAG CATATAATATATAATACATAATACATTATATATAAGCATATAACAATACA TAATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01981.hp2 HG03942.hp1 HG00738.hp1 HG01981.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0042 a0001c0001t0001 a0001c0001t0042	a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0042g0118 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0042g0118	3	21	0.1429	704	c.24+ others(721): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAA TACACAATATATTATATAATAATATGTAATACACAATATATTATATAATA ATATGTAATACACAATATATTATATAATAATATGTAATACACAATATATT ATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACAC AATATATTATATAATAATATGTAATACACAATATATTATATAATAATATG TAATACACAATATATTATATAATAATATGTAATACACAATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CATTATACATTATTATATAAGTATATGTAATACATTATACATTATTATAT AAGTATATGTAATATATATTATACATTATTATATAAGTATATGTAATATA TATTATACATTATTATATAAGCATATAATATATAATACATAATACATTAT ATATAAGCATATAACAATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RUNX1_chr21_34782801_35054302	34931569	A A	ATGTATAC others(697): Show ATGTATACATATAGACATGTATGTATAATATATATACATATAGACATGTA TATTATATGCACATATATGTATATATAATATATACATATATATGTATATA TAATATATACATATATGTATATATTATATATACATATATATGTATATATA CATATATACATGTATATATTATACATGTATATATGTATATATACATATAT ACATGTATATATTATACATGTATATATTAATATATAATATATAGTATATA TATACATGTATATATTATATATAAAGTATATATTATATATACGTGTATAC AATATATATACGTGTATATATATTATATACACGTATATATAATATATTGT ATACAGGTATATATACATGTATATAATATATATGTATATATAATATATTG TATACATGTATATATATACATGATATATACACATATATATCGTGTATATA TACACATATATGTATATATATACATGATATATACATACATATATATCATG TGTATATATATACATAATATACACGTATATATACATACATATATACATGT ATATATACACATATATACATACATATATATACATGTATATATACACACAT ATATATGTGTATGTATATGTGTGTGTGTGTGTGTGTGTGTATATATATAT ATATATATATATATATATATATATAATTTTACAACTAACATTAGCCATTG AATAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0111 a0001c0002t0006g0111	1	121	0.0083	704	c.59- others(721): Show c.59-38607_59-38606insCTATTCAATGGCTAATGTTAGTTGTAAA ATTATATATATATATATATATATATATATATATATATACACACACACACA CACACACACATATACATACACATATATATGTGTGTATATATACATGTATA TATATGTATGTATATATGTGTATATATACATGTATATATGTATGTATATA TACGTGTATATTATGTATATATATACACATGATATATATGTATGTATATA TCATGTATATATATACATATATGTGTATATATACACGATATATATGTGTA TATATCATGTATATATATACATGTATACAATATATTATATATACATATAT ATTATATACATGTATATATACCTGTATACAATATATTATATATACGTGTA TATAATATATATACACGTATATATATTGTATACACGTATATATAATATAT ACTTTATATATAATATATACATGTATATATATACTATATATTATATATTA ATATATACATGTATAATATATACATGTATATATGTATATATACATATATA CATGTATAATATATACATGTATATATGTATATATACATATATATGTATAT ATAATATATACATATATGTATATATTATATATACATATATATGTATATAT TATATATACATATATGTGCATATAATATACATGTCTATATGTATATATAT TATACATACATGTCTATATGTATACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
SCUBE1_chr22_43192280_43348372	43339818	T T	TTCTACCC others(697): Show TTCTACCCCCCACAAGCATCGCTCCAACCCTCCCCTACTCTCCTCACTAT CCCCCCACAAGCATCACTCCAGCCCTCCCCCACTCTCCTCACTATCCCCC CACAAGCATCACTCCAGCCCTCCCCCACTCTCCTCATTCTACCCCCCCCA AGCATAGCTCCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCACAAGC ATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTACCCCCCCCACAAGCA TAGCTCCAACCCTCCCCCCACTCTCCTCATTCTACCCCCCCCACAAGCAT AGCTCCAACCCTCCCCCCACTCTCCTCATTCTACCCCCCACAAGCATTGC TTCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATCGCTCC AACCCTCCCCTACTCTCCTCACTCTATCCCCCCACAAGCATCACTCCAGC CCTCCCCTACTCTCCTCACTATCCCCCCACAAGCATCACTCCAACCCTCC CCTACTCTCCTCATTCTACCCCCCCCAAGCATAGCTCCAACCCTCCCCCA ACTCTCCTCATTCTACCCCCCCCACAAGCATAGCTCCAACCCTCCCCCCA CTCTCCTCATTCTACCCCCCCCACAAGCACTGCTCCAACCCTCCCCCACT CTCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCTACTCTC CTCAC	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0083 a0002c0002t0002g0083	1	122	0.0082	704	c.89- others(717): Show c.89-584_89-583insGTGAGGAGAGTAGGGGAGGGTTGGAGCAATGC TTGTGGGGGGATAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAGTGCTTG TGGGGGGGGTAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGT GGGGGGGGTAGAATGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGG GGGGGTAGAATGAGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGG GATAGTGAGGAGAGTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAG AGTGAGGAGAGTAGGGGAGGGTTGGAGCGATGCTTGTGGGGGGATAGAAT GAGGAGAGTGGGGGAGGGTTGAAGCAATGCTTGTGGGGGGTAGAATGAGG AGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGGGTAGAATGAGGA GAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGGGTAGAATGAGGAG AGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGATAGAATGAGGAGAG TGGGGGAGGGTTGGAGCTATGCTTGGGGGGGGTAGAATGAGGAGAGTGGG GGAGGGCTGGAGTGATGCTTGTGGGGGGATAGTGAGGAGAGTGGGGGAGG GCTGGAGTGATGCTTGTGGGGGGATAGTGAGGAGAGTAGGGGAGGGTTGG AGCGATGCTTGTGGGGGGTAGA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SDHA_chr5_213320_262082	261040	A A	AGAGCATT others(697): Show AGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAG CTCCGCCTCCCCACAGAGCATTACTGTGTGAGCTCCGCCTCCCGTCACAG CATTACTGTGTGAGCTCCGCCTCCCGTCAGAGCATTACTGTGTGAGCTCC GCCTCCCGTCAGATCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATT ACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCT CCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCG TGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCG TCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACTGTGTG AGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCCCCTGCCAG AGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCT CCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCTGCCAGAGCA TTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGC CTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTAC CGTGTGAGCTCCGCCCCCCGCCACAGCATTACCGTGTGAGCTCCGCCTCC CGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp2 NA19078.hp2 NA18988.hp2 NA19078.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0008 a0001c0002 a0006c0008	a0001c0002t0001 a0006c0008t0001 a0001c0002t0001 a0006c0008t0001	a0001c0002t0001g0151 a0006c0008t0001g0177 a0001c0002t0001g0151 a0006c0008t0001g0177	2	253	0.0079	704	c.46 others(715): Show c.4620_*4621insGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACA GCATTACCGTGTGAGCTCCGCCTCCCCACAGAGCATTACTGTGTGAGCTC CGCCTCCCGTCACAGCATTACTGTGTGAGCTCCGCCTCCCGTCAGAGCAT TACTGTGTGAGCTCCGCCTCCCGTCAGATCATTACCGTGTGAGCTCCGCC TCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACC GTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCC GTCACAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGT GAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCA CAGCATTACTGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGC TCCGCCCCCTGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGC ATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCG CCTCCTGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTA CCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTC CCGCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCCACAGCATTACCGT GTGAGCTCCGCCTCCCGTCC	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3959		chr5	TogoVar
SDHA_chr5_213320_262082	261040	A A	AGAGCATT others(697): Show AGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAG CTCCGCCTCCCCACAGAGCATTACTGTGTGAGCTCCGCCTCCCGTCACAG CATTACTGTGTGAGCTCCGCCTCCCGTCAGAGCATTACTGTGTGAGCTCC GCCTCCCGTCAGATCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATT ACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCT CCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCG TGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCG TCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACTGTGTG AGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCCCCTGCCAG AGCATTACCGTGTGAGCTCCGCCTCCTGCCAGAGCATTACCGTGTGAGCT CCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCTGCCAGAGCA TTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGC CTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTAC CGTGTGAGCTCCGCCCCCCGCCACAGCATTACCGTGTGAGCTCCGCCTCC CGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 NA18747.hp2 NA18952.hp1 others(6): Show HG03710.hp2 NA18747.hp2 NA18952.hp1 NA18960.hp1 NA18964.hp2 NA18979.hp1 NA18989.hp1 NA19066.hp2 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0013 a0001c0002t0001g0142 others(1): Show a0001c0002t0001g0002 a0001c0002t0001g0013 a0001c0002t0001g0142 a0001c0002t0001g0143	9	260	0.0346	704	c.46 others(715): Show c.4620_*4621insGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACA GCATTACCGTGTGAGCTCCGCCTCCCCACAGAGCATTACTGTGTGAGCTC CGCCTCCCGTCACAGCATTACTGTGTGAGCTCCGCCTCCCGTCAGAGCAT TACTGTGTGAGCTCCGCCTCCCGTCAGATCATTACCGTGTGAGCTCCGCC TCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACC GTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCC GTCACAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGT GAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCA CAGCATTACTGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGC TCCGCCCCCTGCCAGAGCATTACCGTGTGAGCTCCGCCTCCTGCCAGAGC ATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCG CCTCCTGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTA CCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTC CCGCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCCACAGCATTACCGT GTGAGCTCCGCCTCCCGTCC	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3959		chr5	TogoVar
SDHA_chr5_213320_262082	261201	G G	GAGCATTA others(697): Show GAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGC TCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGC ATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCG CCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTA CCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTC CCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGACAGAGCATTACCGT GTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGA CAGAGCATTACCGTGTGAGCTCCGCCTCCTGCCAGAGCATTACCGTGTGA GCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGA GCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTC CGCCCCCCGCCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCAT TACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCC TCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACC GTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCC GTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0112 a0001c0002t0001g0112	1	226	0.0044	704	c.47 others(715): Show c.4781_*4782insAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAG CATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCC GCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATT ACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCT CCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCG TGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCG ACAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTG AGCTCCGCCTCCCGACAGAGCATTACCGTGTGAGCTCCGCCTCCTGCCAG AGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCT CCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCA TTACCGTGTGAGCTCCGCCCCCCGCCACAGCATTACCGTGTGAGCTCCGC CTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTAC CGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCC CGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTG TGAGCTCCGCCTCCCGTCAC	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4120		chr5	TogoVar
SLAIN1_chr13_77692687_77769229	77703948	T T	TAAAATAT others(697): Show TAAAATATATATACATATGTTTTATAAGTGTATATATACACATATAAAAT ATATATACATATGTTTTATAAGTGTATATATACACATATAAAATATATAT ACATATGTTTTATATGTGTATATATACACATATAAAATATATATACATAT GTTTTATATGTGTATATATACACATAAAATATATATACATATGTTTTATA TGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTA TATATACACATAAAATATATATACATATGTTTTATATGTGTATATATACA CATATAAAATATATATACATATGTTTTATATGTGTATATATACACATATA AAATATATATACATATGTTTTATATGTGTATATATACACATATAAAATAT ATATACATATGTTTTATATGTGTATATATACACATATAAAATATATATAC ATATGTTTTATATGTATATATACATATAAAATATATATACATATGTTTTA TATGTATATATATACATATAAAATATATATACATATAAAATATATATGTT TTATATGTATATATACATATAAAATATATATACATATGTTTTATATGTAT ATATATACATATAAAACATATATACATATGTTTTATATGTGTATATATAC ATAGAAAATATATATAATATATATACATATGTTTTATATGTATATATATA CATAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	158	0.0063	704	c.626 others(721): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATATAAAATATATATACAT ATGTTTTATATGTGTATATATACACATATAAAATATATATACATATGTTT TATATGTGTATATATACACATAAAATATATATACATATGTTTTATATGTG TATATATACACATATAAAATATATATACATATGTTTTATATGTGTATATA TACACATAAAATATATATACATATGTTTTATATGTGTATATATACACATA TAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAAAT ATATATACATATGTTTTATATGTGTATATATACACATATAAAATATATAT ACATATGTTTTATATGTGTATATATACACATATAAAATATATATACATAT GTTTTATATGTATATATACATATAAAATATATATACATATGTTTTATATG TATATATATACATATAAAATATATATACATATAAAATATATATGTTTTAT ATGTATATATACATATAAAATATATATACATATGTTTTATATGTATATAT ATACATATAAAACATATATACATATGTTTTATATGTGTATATATACATAG AAAATATATATAATATATATACATATGTTTTATATGTATATATATACATA GAAAATATATATACATATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77703950	A A	AAATATAT others(697): Show AAATATATATACATATGTTTTATAAGTGTATATATACACATATAAAATAT ATATACATATGTTTTATAAGTGTATATATACACATATAAAATATATATAC ATATGTTTTATATGTGTATATATACACATATAAAATATATATACATATGT TTTATATGTGTATATATACACATAAAATATATATACATATGTTTTATATG TGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTATA TATACACATATAAAATATATATACATATGTTTTATATGTGTATATATACA CATATAAAATATATATACATATGTTTTATATGTGTATATATACACATATA AAATATATATACATATGTTTTATATGTGTATATATACACATATAAAATAT ATATACATATGTTTTATATGTGTATATATACACATATAAAATATATATAC ATATGTTTTATATGTATATATACATATAAAATATATATACATATGTTTTA TATGTATATATACATATAAAATATATATACATATGTTTTATATGTATATA TATACATATAAAATATATATACATATAAAATATATATGTTTTATATGTAT ATATACATATAAAATATATATACATATGTTTTATATGTATATATATACAT ATAAAACATATATACATATGTTTTATATGTGTATATATACATAGAAAATA TATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0113 a0001c0001t0004g0113	1	293	0.0034	704	c.626 others(721): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATATAAAATATATATACAT ATGTTTTATATGTGTATATATACACATATAAAATATATATACATATGTTT TATATGTGTATATATACACATAAAATATATATACATATGTTTTATATGTG TATATATACACATATAAAATATATATACATATGTTTTATATGTGTATATA TACACATATAAAATATATATACATATGTTTTATATGTGTATATATACACA TATAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAA ATATATATACATATGTTTTATATGTGTATATATACACATATAAAATATAT ATACATATGTTTTATATGTGTATATATACACATATAAAATATATATACAT ATGTTTTATATGTATATATACATATAAAATATATATACATATGTTTTATA TGTATATATACATATAAAATATATATACATATGTTTTATATGTATATATA TACATATAAAATATATATACATATAAAATATATATGTTTTATATGTATAT ATACATATAAAATATATATACATATGTTTTATATGTATATATATACATAT AAAACATATATACATATGTTTTATATGTGTATATATACATAGAAAATATA TATAATATATATACATATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC19A1_chr21_45507565_45547440	45531209	G G	GGGGGAGC others(697): Show GGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGA GCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCC TGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCTGGGGA AGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATC CACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGG GCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGG GGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGCGGG GAGGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGCGGGGAGGGG GAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCT CCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCTGGG GAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGA TCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACG GGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAG GGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAG GTGGC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	6	0.1667	704	c.949 others(719): Show c.949+179_949+180insGCCACCTCCCCCTGCCCCGTGGATCCTTCC CCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGA GGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCC CCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCA CCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGCCACCTCCC CCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTGCC CCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCCCCTGCCCCGTGG ATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCCCCTGCCCCGTGGATCCTT CCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCG GAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCT CCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGC CACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGCCACCTC CCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGCCACCTCCCCCTG CCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGT GGATCCTTCCCCCGGAGGCTCCCC	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	3/5			chr21	TogoVar
SLC6A12_chr12_185081_219157	197162	C C	CATCCATC others(697): Show CATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCA TCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC TATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCTATCCA TCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATC CATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCTA TCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATC CATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATC TATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCTATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATC TACCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCA TCCATCTATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATC TATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCTA TCCATCCATCCATCCATCCATCCATCTATCCATCTATCCATCCATCCATC CATCT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0362 a0002c0003t0002g0362	1	273	0.0037	704	c.107 others(721): Show c.1075+214_1075+215insAGATGGATGGATGGATGGATAGATGGAT AGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGG ATAGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGAT GGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATAG ATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGAT AGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGAT GGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGG ATGGATAGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGAT GGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGG ATGGATAGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATAGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATGGATAGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATCATA others(697): Show ATATCATATTTTATATTATAATATATAATATATATTATATTTTATAATAT ATAATATATATTATATTTTATAATATATAATATATTATATTTTATAATAT ATAATATATTATATTTTATAATATATAATATATTATATTTTATAATATAT AATATATTATATTTTATAATATATAATATATTATATTTTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATATTATAATATATAATATATAATATATTATAATATATAATATA TTATATATTATAATATATAATATATTATATATTATAATATATAATATATT ATATTTTATATAATATATTATAATATATAATATATTATATATTATAATAT ATAATATATTATATATTATAATATATAATATATTATATTTTATAATATAT AATATATTATATTTTATAATATATAATATATTATATTTTATAATATATAA TATATTATATTTTATAATATATAAAATATTATATTTTATAATATATAAAA TATTATATTTTATAATATATAAAATATATTATATTTTATAATATATAAAA TATATTATATTTTATAATATATAATATATATTATATTTTATAATATATAA TATATATTATATTTTATAATATATAATATATATTATATTTTATAATATAT AATAT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	161	0.0062	704	c.17 others(723): Show c.174+9791_*174+9792insATATTATATATTATAAAATATAATAT ATATTATATATTATAAAATATAATATATATTATATATTATAAAATATAAT ATATATTATATATTATAAAATATAATATATTTTATATATTATAAAATATA ATATATTTTATATATTATAAAATATAATATTTTATATATTATAAAATATA ATATTTTATATATTATAAAATATAATATATTATATATTATAAAATATAAT ATATTATATATTATAAAATATAATATATTATATATTATAAAATATAATAT ATTATATATTATAATATATAATATATTATATATTATAATATATAATATAT TATATATTATAATATATTATATAAAATATAATATATTATATATTATAATA TATAATATATTATATATTATAATATATAATATATTATATATTATAATATA TTATATATTATATATTATAATATATAATATATTATATATTATAAAATATA ATATATTATATATTATAAAATATAATATATTATATATTATAAAATATAAT ATATTATATATTATAAAATATAATATATTATATATTATAAAATATAATAT ATTATATATTATAAAATATAATATATTATATATTATAAAATATAATATAT TATATATTATAAAATATAATATATATTATATATTATAAAATATAATATAT ATTATATATTATAATATAAAATATGATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SPAAR_chr9_35904490_35916686	35914283	A A	AGTGAGTG others(697): Show AGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAGCTGTATGT GTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGT ATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG CTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGG TGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCT GTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTA TGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTT TGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTG TTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTG TGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAG TGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAG TGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	225	0.0044	704	c.35 others(715): Show c.3592_*3593insGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGT GTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGT GTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTG TGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTAT GCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTT GTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTGTGTTTTT GTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGT TTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGT GTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGT GTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGT GAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTG TAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATG TGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTG TATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAA GCTGTATGTGTGTAGTGAGT	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2598		chr9	TogoVar
TBCD_chr17_82747065_82950914	82765405	C C	CTGTGTGC others(697): Show CTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGC TCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTC TGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTC TTACAAGCTTGCGGGTGTCTGCTCATAGTCTGCTTTTCTTACAAGCTTGC GGGTGTCTGCGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCT GTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGCTCATAG TCTGCTTTTCTTACAAGCTTGCGGGTGTCTGCGTGCTCATAGTCTGCTTT TCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAA GCTTGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGT GTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCAGGTGTCTGTGT GCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAG TCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTTTC TTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGC TTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGT GTCTG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0005 a0002c0007t0005	a0002c0007t0005g0167 a0002c0007t0005g0167	1	189	0.0053	704	c.334 others(719): Show c.334-858_334-857insTGCTCATAGTCTGCTTTTCTTACAAGCTTG CGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTC TGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCT CATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGCTCATAGTCTGCTT TTCTTACAAGCTTGCGGGTGTCTGCGTGCTCATAGTCTGCTTTTCTTACA AGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCG GGTGTCTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGCGTG CTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGT CTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTTTCT TACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCT TGCAGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTG TCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCT CATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCT GCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCT TACAAGCTTGCGGGTGTCTGTGTG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	3/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TET3_chr2_73979910_74113176	74061224	T T	TGGCTGGC others(697): Show TGGCTGGCCGGGCGGGGGGCTGACCCCCCCACTTCCCTCCCGGATGGGGC GGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCAGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCAGGGCGGGGGACTGACC CCCCCACCTCCTTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACTTCCCTCCCGGATGGG GCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCAGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCAGGGCGGGGGACTGA CCCCCCCACCTCCTTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0007 a0007	a0007c0022 a0007c0022	a0007c0022t0051 a0007c0022t0051	a0007c0022t0051g0176 a0007c0022t0051g0176	1	207	0.0048	704	c.249 others(725): Show c.2495-12187_2495-12186insCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCAGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCAGGGCGGGGGACTGACCCCCCCACCTCCTT CCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACTTCCCTCCCGGATGGGGCGGCTGGCCAGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCAGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCAGGGCGGGGGACTGACCCCCCCACCTCC TTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACTTCCCTCCCGGATGGGGCGGCTGGCCA GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGG	TET3	ENSG00000187605.16	transcript	ENST00000409262.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATG others(697): Show CTATTATGATTATAATATACCTATTATATAGCATTATATATAATATACCT ATTATATGCATTATATATAATACCTATTATATGCATTATATTATAATATA CCTATTATATGCATTATATAATATATACCTATTATATGCATCATTATATA GTATTATACCTATTATATATTCATATATAATATATTATAATATTATATGC TATTATATTATTATATATTATATATTATATATATATACATATTATATGTA TATATATTATATATAATATAATATATAATATACTATATTATATACATATA TATTATATATTATATACATATTATATATTATATACTTATATACTATTATA TATTATATTACATATTTACATATTATATATTAGCTATAATATATTACATT ATATATATATATACATATATAATACACATTATATATTATATAATACACAT TATATATAATATATAATACACATTATATATTATATATAATACACATTATA TATTATATATAATACACATTATATATTATATAATACACATTATATATTAT ATATAATACACATTATATATTATATATAATACACATTATATATTATATAT AATACACATTATATATTATATAATACACATTATATATTATATATAATACA CATTATATATATAATACACATTATATATTATATATAATACATAATACACA TTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	82	0.0122	704	c.62 others(715): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTGTATTATATATAATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATAATATA TAATGTGTATTATATATAATATATAATGTGTATTATATATAATATATAAT GTGTATTATATATTATATATAATGTGTATTATATAATATATAATGTGTAT TATATATGTATATATATATATAATGTAATATATTATAGCTAATATATAAT ATGTAAATATGTAATATAATATATAATAGTATATAAGTATATAATATATA ATATGTATATAATATATAATATATATGTATATAATATAGTATATTATATA TTATATTATATATAATATATATACATATAATATGTATATATATATAATAT ATAATATATAATAATATAATAGCATATAATATTATAATATATTATATATG AATATATAATAGGTATAATACTATATAATGATGCATATAATAGGTATATA TTATATAATGCATATAATAGGTATATTATAATATAATGCATATAATAGGT ATTATATATAATGCATATAATAGGTATATTATATATAATGCTATATAATA GGTATATTATAATCATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
TMEM120B_chr12_121707752_121787068	121747812	G G	GTCTGGGG others(697): Show GTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGG TAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGT GGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACT GGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGA AGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGG CACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGG TAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGG GAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACT GGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGA AGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGG CTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTA GAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGG GAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGG TAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGG GAGGC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0243 a0001c0001t0029g0243	1	312	0.0032	704	c.189 others(719): Show c.189-514_189-513insTCTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGTGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TTLL1_chr22_43034516_43094391	43078994	C C	CGGGGACC others(697): Show CGGGGACCACGGGAGCCGCACCCCAGAGCGTGAGCCCATCCCACACCCCT CACACCCGCAGACACGGGGACCACGGGAGCCGCACCCCAGAGCGTGAGCC CATCCCACACCCCTCACACCCGCAGACACGGGGACCACGGGAGCCGCACC CCAGAGCGTGAGCCCATCCCACACCCCTCACACCCACAGACACGGGGACC ACGGGAGCCGCACCCCAGAGCGTGAGCCCATCCCACACCCCTCACACCCG CAGACATGGGGACCACGGGAGCCGCACCCCAGAGCGTGAGCCCATCCCAC ACCCCTCACACCCGCAGACAAGGGGACCACGGGAGCCGCACCCCAGAGCG TGAGTCCATCCCACACCCCTCACACCCGCAGACACGGGGACCACGGGAGC CGCACCCCAGAGCGTGAGCCCATCCCACACCCCTCACACCCACAGACACG GGGACCACGGGAGCCGCACCCCAGAGCGTGAGCCCATCCCACACCCCTCA CACCCACAGACACGGGGACCACGGGAGCCGCACCCCAGAGCGTGAGCCCA TCCCACACCCCTCACACCCACAGACACGGGGACCACGGGAGCCGCACCCC AGAGCGTGAGCCCATCCCACACCCCTCACACCCACAGACACGGGGACCAC GGGAGCCGCACCCCAGAGCGTGAGCCCATCCCACACCCCTCACACCCGCA GACAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0007 a0001c0009t0007	a0001c0009t0007g0044 a0001c0009t0007g0044	1	256	0.0039	704	c.-5+ others(717): Show c.-5+907_-5+908insATGTCTGCGGGTGTGAGGGGTGTGGGATGGGC TCACGCTCTGGGGTGCGGCTCCCGTGGTCCCCGTGTCTGTGGGTGTGAGG GGTGTGGGATGGGCTCACGCTCTGGGGTGCGGCTCCCGTGGTCCCCGTGT CTGTGGGTGTGAGGGGTGTGGGATGGGCTCACGCTCTGGGGTGCGGCTCC CGTGGTCCCCGTGTCTGTGGGTGTGAGGGGTGTGGGATGGGCTCACGCTC TGGGGTGCGGCTCCCGTGGTCCCCGTGTCTGTGGGTGTGAGGGGTGTGGG ATGGGCTCACGCTCTGGGGTGCGGCTCCCGTGGTCCCCGTGTCTGCGGGT GTGAGGGGTGTGGGATGGACTCACGCTCTGGGGTGCGGCTCCCGTGGTCC CCTTGTCTGCGGGTGTGAGGGGTGTGGGATGGGCTCACGCTCTGGGGTGC GGCTCCCGTGGTCCCCATGTCTGCGGGTGTGAGGGGTGTGGGATGGGCTC ACGCTCTGGGGTGCGGCTCCCGTGGTCCCCGTGTCTGTGGGTGTGAGGGG TGTGGGATGGGCTCACGCTCTGGGGTGCGGCTCCCGTGGTCCCCGTGTCT GCGGGTGTGAGGGGTGTGGGATGGGCTCACGCTCTGGGGTGCGGCTCCCG TGGTCCCCGTGTCTGCGGGTGTGAGGGGTGTGGGATGGGCTCACGCTCTG GGGTGCGGCTCCCGTGGTCCCC	TTLL1	ENSG00000100271.17	transcript	ENST00000266254.12	protein_coding	2/10			chr22	TogoVar
TTLL1_chr22_43034516_43094391	43078994	C C	CGGGGACC others(697): Show CGGGGACCACGGGAGCCGCACCCCAGAGCGTGAGCCCATCCCACACCCCT CACACCCGCAGACACGGGGACCACGGGAGCCGCACCCCAGAGCGTGAGCC CATCCCACACCCCTCACACCCGCAGACACGGGGACCACGGGAGCCGCACC CCAGAGCGTGAGCCCATCCCACACCCCTCACACCCACAGACACGGGGACC ACGGGAGCCGCACCCCAGAGCGTGAGCCCATCCCACACCCCTCACACCCG CAGACATGGGGACCACGGGAGCCGCACCCCAGAGCGTGAGCCCATCCCAC ACCCCTCACACCCGCAGACAAGGGGACCACGGGAGCCGCACCCCAGAGCG TGAGTCCATCCCACACCCCTCACACCCGCAGACACGGGGACCATGGGAGC CGCACCCCAGAGCGTGAGCCCATCCCACACCCCTCACACCCACAGACACG GGGACCACGGGAGCCGCACCCCAGAGCGTGAGCCCATCCCACACCCCTCA CACCCACAGACACGGGGACCACGGGAGCCGCACCCCAGAGCGTGAGCCCA TCCCACACCCCTCACACCCACAGACACGGGGACCACGGGAGCCGCACCCC AGAGCGTGAGCCCATCCCACACCCCTCACACCCACAGACACGGGGACCAC GGGAGCCGCACCCCAGAGCGTGAGCCCATCCCACACCCCTCACACCCGCA GACAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0043 a0001c0002t0007g0043	1	256	0.0039	704	c.-5+ others(717): Show c.-5+907_-5+908insATGTCTGCGGGTGTGAGGGGTGTGGGATGGGC TCACGCTCTGGGGTGCGGCTCCCGTGGTCCCCGTGTCTGTGGGTGTGAGG GGTGTGGGATGGGCTCACGCTCTGGGGTGCGGCTCCCGTGGTCCCCGTGT CTGTGGGTGTGAGGGGTGTGGGATGGGCTCACGCTCTGGGGTGCGGCTCC CGTGGTCCCCGTGTCTGTGGGTGTGAGGGGTGTGGGATGGGCTCACGCTC TGGGGTGCGGCTCCCGTGGTCCCCGTGTCTGTGGGTGTGAGGGGTGTGGG ATGGGCTCACGCTCTGGGGTGCGGCTCCCATGGTCCCCGTGTCTGCGGGT GTGAGGGGTGTGGGATGGACTCACGCTCTGGGGTGCGGCTCCCGTGGTCC CCTTGTCTGCGGGTGTGAGGGGTGTGGGATGGGCTCACGCTCTGGGGTGC GGCTCCCGTGGTCCCCATGTCTGCGGGTGTGAGGGGTGTGGGATGGGCTC ACGCTCTGGGGTGCGGCTCCCGTGGTCCCCGTGTCTGTGGGTGTGAGGGG TGTGGGATGGGCTCACGCTCTGGGGTGCGGCTCCCGTGGTCCCCGTGTCT GCGGGTGTGAGGGGTGTGGGATGGGCTCACGCTCTGGGGTGCGGCTCCCG TGGTCCCCGTGTCTGCGGGTGTGAGGGGTGTGGGATGGGCTCACGCTCTG GGGTGCGGCTCCCGTGGTCCCC	TTLL1	ENSG00000100271.17	transcript	ENST00000266254.12	protein_coding	2/10			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50028623	C C	CCCCCACA others(697): Show CCCCCACACACACTCGTAGAGACCCCCATCACACCGTCCTGAAGACCCCA CACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACAC TCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCCACATACCCTCGTA AAGACCCCATCACACCGTCCTGAAGACCCCCACATACCCTCGTAAAGACC CCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCAC ACCATCCTGAAGACCCCACACACACTCGTAAAGACCCCCATCACACCGTC CTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCATCCTGAAGA CCCACACATACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCACA CATACCCTCGTAAAGACCCCATCACACCATCCTAAAGACCCACACATACC CTCGTAAAGACCCCATCACACCGTCCTGAAGACCCACACATACCCTCGTA AAGACCCCATCACACCGTCCTGAAGACCCACACATACCCTCGTAAAGACC CCATCACACCATCCTAAAGACCCCACACATACCCTCGTAAAGACCCCCAT CACACCATCCTAAAGACCCCCACACACACTCGTAGAGACCCCCATCACAC CGTCCTGAAGACCCCACACACACTCGTAAAGACCCCCGTCATACCATCCT GAAGA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0135 a0002c0002t0001g0135	1	210	0.0048	704	c.225 others(723): Show c.2251+1806_2251+1807insTCTTCAGGATGGTATGACGGGGGTCT TTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTCTACGA GTGTGTGTGGGGGTCTTTAGGATGGTGTGATGGGGGTCTTTACGAGGGTA TGTGTGGGGTCTTTAGGATGGTGTGATGGGGTCTTTACGAGGGTATGTGT GGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTATGTGTGGGTCT TCAGGACGGTGTGATGGGGTCTTTACGAGGGTATGTGTGGGTCTTTAGGA TGGTGTGATGGGGTCTTTACGAGGGTATGTGTGGGTCTTCAGGACGGTGT GATGGGGTCTTTACGAGGGTATGTGTGGGTCTTCAGGATGGTGTGATGGG GTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTT ACGAGTGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGG TGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTATGTGG GGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTATGTGGGGGTCT TCAGGACGGTGTGATGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGA CGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTG ATGGGGGTCTCTACGAGTGTGTGTGGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50028634	C C	CCTCGTAA others(697): Show CCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCCACACACACTCGT AAAGACCCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGAC CCCCGTCATACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCCAT CATACCATCCTAAAGACCCCCACACACACTCGTAAAGACCCCATCACACC GTCCTGAAGACCCACACATACCCTCGTAAAGACCCCATCACACCATCCTG AAGACCCCCACACACACTCGTAAAGACCCCCATCACACCGTCCTGAAGAC CCCACACACACTCGTAAAGACCCCCGTCATACCATCCTAAAGACCCCCAC ACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACATACCC TCGTAAAGACCCCATCACACCATCCTGAAGACCCCCACACACACTCGTAA AGACCCCATCACACCATCCTGAAGACCCCACACACACTCGTAAAGACCCC ATCACACCGTCCTGAAGACCCCCACATACCCTCGTAAAGACCCCATCACA CCATCCTGAAGACCCCCACACACACTCGTAAAGACCCCATCACACCATCC TGAAGACCCCACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGAC CCCCACATACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCCAC ACACA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0045 a0003c0003t0001g0045	1	191	0.0052	704	c.225 others(723): Show c.2251+1795_2251+1796insTGTGTGTGGGGGTCTTCAGGATGGTG TGATGGGGTCTTTACGAGGGTATGTGGGGGTCTTCAGGACGGTGTGATGG GGTCTTTACGAGTGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTT ACGAGTGTGTGTGGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGG GTATGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGT GGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTC TTCAGGATGGTGTGATGGGGTCTTTACGAGGGTATGTGGGGGTCTTCAGG ACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGATGGTA TGACGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGG GGGTCTTTACGAGTGTGTGTGGGGGTCTTCAGGATGGTGTGATGGGGTCT TTACGAGGGTATGTGTGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGA GTGTGTGTGGGGGTCTTTAGGATGGTATGATGGGGGTCTTTACGAGGGTG TGTGGGGTCTTCAGGATGGTATGACGGGGGTCTTTACGAGTGTGTGTGGG GTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGTGTGTGTGGGGGTCTT CAGGATGGTGTGATGGGGTCTTTACGAG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
ULK1_chr12_131889622_131928150	131917102	G G	GTCGGGTT others(697): Show GTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCG GGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGG GGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGG AGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGT CGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGATGGGGGTCGGG TGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCT GTGGGATGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGATGGGGGTCGGGT TCGGC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0076 a0001c0012t0001g0076	1	269	0.0037	704	c.218 others(719): Show c.2182+44_2182+45insGTTCGGCTCGGAGGCTGTGGGACGGGGGTC GGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCT GTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGT TCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGG GATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGG CTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATG GGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCG GAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGG TCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGG CTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGG GTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGT GGGATGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTTC GGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGG TGGGGCTTGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTTGGAGGCTGTG GGATGGGGGTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917102	G G	GTCGGGTT others(697): Show GTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAG GCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGG GGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGG AGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGT CGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGT TCGGC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0290 a0001c0003t0003g0290	1	269	0.0037	704	c.218 others(719): Show c.2182+44_2182+45insGTTCGGCTCGGAGGCTGTGGGATGGGGGTC GGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCT GTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGT TCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGG GACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGG CTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATG GGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCG GAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGG TCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGG CTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGG GTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGT GGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTC GGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGA TGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTG GGATGGGGGTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGAGGCT others(697): Show CGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGAT GGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTC GGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGT GGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGC TGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCG GCTCG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0292 a0001c0003t0003g0292	1	74	0.0135	704	c.218 others(721): Show c.2182+158_2182+159insGAGGCTGTGGGATGGGGGTCGGAGGCTG TGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGG GGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGG AGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGT CGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCT GTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGACGGGGGTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(697): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACAGAT AGATGTATCTATCTATAGATAGACAGATAGATGTATCTATCGATAGACAG ATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	177	0.0056	704	c.53+ others(719): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACAGATAGATGTATCTATCTATAGATAGACAGATAGA TGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATG TATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTA TCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATA GATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTA TCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(697): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	177	0.0056	704	c.53+ others(719): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTA TCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATA GATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTA TCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VSIG1_chrX_108040065_108084184	108040899	C C	CAGAAAAA others(697): Show CAGAAAAAGGTCTGAGAAAAATGCTAAACTCCTGTTCCATGTGAGCCTGG GAAAGGGATTACATGTGTGAGTGAATGAATGGGACTTTTTTTCCTCTGTA TCCTTGTTTGTCCTTTGAAAACCATTTACTATCAAAATGTATTACTTTTG TAATTTTTAAGTTAAAAATGAGGGATAAATCAGATATCACATATTTCTGA AAGTTCCCAAGGAAGAATACTGGGGGCAGTAGCATATTTGTTACATTACA ATCACACCGTGCCATTGTGTGGTGTGATAGGAACAGCTTCTAATGCGTGC TATGGTGACCTTGGGAAAAGCACAGCACTTTTGAGCCTCAGTTTTCTTAT ATAGAAAATGTAGGTATACCTGACTTATTTGTTGTATTGGAAAGCTACAT GTTCATTGAACCATTGTCAATAATATTGAAAAACTGGAAACCATCTAAGA ATTTACCAATAAGAGAATGATTAAATAAATTGAGGTACATTCATATCATG AAATACCATGCAGCCTTAACATGGACAAGGTTGATCTATAGATGCAGTTG GACCCAGTGACAGAAAGAGAGAATAAAAATACCTTTTTTAAGGGAGAAAA GCCAATTATAGAACAAAATGTACAGTATTATCATCTTTATGTTTTAAAAA ACCTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGCATGTGTACA TGCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	278	0.0036	704	c.-42 others(715): Show c.-4232_-4231insAGAAAAAGGTCTGAGAAAAATGCTAAACTCCTGT TCCATGTGAGCCTGGGAAAGGGATTACATGTGTGAGTGAATGAATGGGAC TTTTTTTCCTCTGTATCCTTGTTTGTCCTTTGAAAACCATTTACTATCAA AATGTATTACTTTTGTAATTTTTAAGTTAAAAATGAGGGATAAATCAGAT ATCACATATTTCTGAAAGTTCCCAAGGAAGAATACTGGGGGCAGTAGCAT ATTTGTTACATTACAATCACACCGTGCCATTGTGTGGTGTGATAGGAACA GCTTCTAATGCGTGCTATGGTGACCTTGGGAAAAGCACAGCACTTTTGAG CCTCAGTTTTCTTATATAGAAAATGTAGGTATACCTGACTTATTTGTTGT ATTGGAAAGCTACATGTTCATTGAACCATTGTCAATAATATTGAAAAACT GGAAACCATCTAAGAATTTACCAATAAGAGAATGATTAAATAAATTGAGG TACATTCATATCATGAAATACCATGCAGCCTTAACATGGACAAGGTTGAT CTATAGATGCAGTTGGACCCAGTGACAGAAAGAGAGAATAAAAATACCTT TTTTAAGGGAGAAAAGCCAATTATAGAACAAAATGTACAGTATTATCATC TTTATGTTTTAAAAAACCTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT TTGTGCATGTGTACATGCAT	VSIG1	ENSG00000101842.14	transcript	ENST00000217957.10	protein_coding		4165		chrX	TogoVar
WDR64_chr1_241647281_241807777	241675055	T T	TCCTCCCT others(697): Show TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT CCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTC CCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTGCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTCCCTTCCTCCCTCCCT CCTCCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTC CCTCCCTCCTTCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGC CTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCC TTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT TCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCTT CCTGC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0218 a0001c0002t0002g0218	1	170	0.0059	704	c.483 others(719): Show c.483+309_483+310insCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCC CTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCT CCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTCCCTTCCTCCCTCCCTCCTCCCTCCCTCCCTCCCTCCTTCCTCCCTCC CTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTGCC TCCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCT TCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTG CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTC CTGCCTCCCTCCCTCCTTCCTGCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZBTB34_chr9_126855639_126890878	126876191	C C	CCCCTTCC others(697): Show CCCCTTCCCCCTTCCCCCCCTTTCCCCCTTCCCCCTTCCCCCCCTTCCCC CCTTCCCCCTTCCCCCTTCCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTC CCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTT CCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCC CCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTCCCCCT TCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTC CCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCC CTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTC CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCTCCCTTCCCCCCTTTCCCCCTTCCC CCCTTCCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCC CCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCC CCTTT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	237	0.0042	704	c.-10 others(721): Show c.-10-3198_-10-3197insCCTTCCCCCTTCCCCCCCTTTCCCCCTT CCCCCTTCCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCCTCCCC CTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTC CCTCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTC CCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCTTCCCCCCTTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCTCCCT TCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCCTTTCCCCCTTCCCCCCTT TCCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTC CCCCCTTTCCCCCCTTCCCCCCTTTC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(697): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAATAT ATATTATAACTATATTAAATATATAAATTATATAATATATATTATATATT GTATATTATATAATTTATATAATATATTATATGTTATATAATATATATTA TATATTGTATATATTATATTATATATTATATATTTTATATATCATATATA GTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATATT TTTATATATTATATATAATATATATAATTATATATCATATATATTTATAT AATATATGATATATAATATATAATATATATTATGTATTATATAATTATAT AAAATATATCATATATTATATATTATAAATAATATATTATATATATTATA TATTATAAATAATATATTATATATATTATATATTATAAATAATATATAAT ATATATTATATATTATAAATAATATATTATATATTATATTATATATTATA AATAATATATTATATATTATATTATATATTATAAATAATATATTATATAT TATATTATATATTATAAATAATATATTATATATTATATTATATATTATAA ATAATATATTATATATTATATTATATATTATAAATAATATATTATATATT ATATTATAAATAATATATTATATATTATAAATAATATATTATATATAATA TGTTA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0206 a0001c0001t0077g0206	1	44	0.0227	704	c.-1- others(721): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAATATATATTATAACTATATTAAATATATAAATTATATA ATATATATTATATATTGTATATTATATAATTTATATAATATATTATATGT TATATAATATATATTATATATTGTATATATTATATTATATATTATATATT TTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTATA TAGTATACTATATATTTTTATATATTATATATAATATATATAATTATATA TCATATATATTTATATAATATATGATATATAATATATAATATATATTATG TATTATATAATTATATAAAATATATCATATATTATATATTATAAATAATA TATTATATATATTATATATTATAAATAATATATTATATATATTATATATT ATAAATAATATATAATATATATTATATATTATAAATAATATATTATATAT TATATTATATATTATAAATAATATATTATATATTATATTATATATTATAA ATAATATATTATATATTATATTATATATTATAAATAATATATTATATATT ATATTATATATTATAAATAATATATTATATATTATATTATATATTATAAA TAATATATTATATATTATATTATAAATAATATATTATATATTATAAATAA TATATTATATATAATATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(697): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAATAT ATATTATAACTATATTAAATATATAAATTATATAATATATATTATATATT GTATATTATATAATTTATATAATATATTATATGTTATATAATATATATTA TATATTGTATATATTATATTATATATTATATATTTTATATATCATATATA GTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATATT TTTATATATTATATATAATATATATAATTATATATCATATATATTTATAT AATATATGATATATAATATATAATATATATTATGTATTATATAATTATAT AAAATATATCATATATTATATATTATAAATAATATATTATATATATTATA TATTATAAATAATATATTATATATATTATATATTATAAATAATATATTAT ATATATTATATATTATAAATAATATATTATATATTATATTATATATTATA AATAATATATTATATATTATATTATATATTATAAATAATATATTATATAT TATATTATATATTATAAATAATATATTATATATTATATTATATATTATAA ATAATATATTATATATTATATTATATATTATAAATAATATATTATATATT ATATTATAAATAATATATTATATATTATAAATAATATATTATATATAATA TGTTA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0235 a0001c0001t0010g0235	1	44	0.0227	704	c.-1- others(721): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAATATATATTATAACTATATTAAATATATAAATTATATA ATATATATTATATATTGTATATTATATAATTTATATAATATATTATATGT TATATAATATATATTATATATTGTATATATTATATTATATATTATATATT TTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTATA TAGTATACTATATATTTTTATATATTATATATAATATATATAATTATATA TCATATATATTTATATAATATATGATATATAATATATAATATATATTATG TATTATATAATTATATAAAATATATCATATATTATATATTATAAATAATA TATTATATATATTATATATTATAAATAATATATTATATATATTATATATT ATAAATAATATATTATATATATTATATATTATAAATAATATATTATATAT TATATTATATATTATAAATAATATATTATATATTATATTATATATTATAA ATAATATATTATATATTATATTATATATTATAAATAATATATTATATATT ATATTATATATTATAAATAATATATTATATATTATATTATATATTATAAA TAATATATTATATATTATATTATAAATAATATATTATATATTATAAATAA TATATTATATATAATATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF627_chr19_11592483_11624161	11613151	C C	CCCCTTCC others(697): Show CCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTCCCTCC CCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTTCCTTC CCTTCCCCCTCCCCTCCCCCTTCCTCCCTCCCCTTCCTCCTCTCCTCCTC CCTCCCCCTCCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCC CTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCT CCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTTCC CTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCCCTCCTCCCTCCCCTTC CCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCCCTCCTCCCTCCCC CTCCCCTCCTCCCTCCCCTCCCTCTCCCCCCTCCCCTCCCCCTCCCCTCC CCTTCCCCTCTCTTCCTCTCCCCTTCCCCTCCCCTCCCCTCCCCCTCTCC TCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCCCTCCCCCTTCTCCCCTC TCCCCTCCCCTCCCCTTCCCTTCTCCTCCCCTCCTCCCTCCCCTCCCCAT CTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCC TCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTCTCCCCTTCCCCCTCACC TCCCT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	316	0.0032	704	c.4-1 others(717): Show c.4-1376_4-1375insCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTT CCTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCC CTCCCCCTTCTTCCTTCCCTTCCCCCTCCCCTCCCCCTTCCTCCCTCCCC TTCCTCCTCTCCTCCTCCCTCCCCCTCCCCCTCCCCCTTCCCTCCTCCCT CCCCCCTCCCCTCCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTC CCCTCCCCCTTCCTCCTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTC CCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACC CCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCT CCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCTCTCCCCCCTC CCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTTCCCCTCCC CTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCC CTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCCTCCCCTC CTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTA CTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTC TCCCCTTCCCCCTCACCTCCCT	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3			chr19	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(698): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGA AGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGAGGGAGGG AGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGG GAGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAG GGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGA GGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGAGGGAGGGAGGGATGGG AGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAG GAGGGATGGGAGGGAGGGAGGGAGGGAGGGAGGGATGGGAGGGAGGGAGG GAAGGAAAGGAGGGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAAGGAAAGGAGGGATGG GAGGGA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0066 a0001c0002t0066	a0001c0002t0066g0213 a0001c0002t0066g0213	1	25	0.0400	705	c.259 others(726): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTT TCCTTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCC CTCCCTCCCTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCC CTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTC CCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCT CCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCC TTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCTCCTTTCCTTCCCTCC CTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTTC CTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCAT CCCTCCCTCCCTCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTT TCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCC ATCCTTTCCTTCTCTCCCACCCTCCCATCCCTCCTTTCCTTCCCACCCTC CCATCCCTCCTTTCCTTCCCTCCCTCCCATCTCTCCTTTCCTTCCCCTCC CTCCCTCCCATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ARHGAP39_chr8_144524179_144690846	144687049	C C	CCCCGTGA others(698): Show CCCCGTGACCACTCATTTACAGCGAGCACTTCTCACCCCCGTGACCACAC ACTGGCGGCGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCA CTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGA CCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGT GAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCC CCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACT GGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCGGTGAGCACTT CCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACC ACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGA GCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCG TGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGC GGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAGCACTTCCCA CCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACAC ACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCAC TTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp1 NA19091.hp2 NA18997.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0052 a0001c0001t0001g0053	2	230	0.0087	705	c.-14 others(716): Show c.-1446_-1445insTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG GTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACTGTAAATGTGTGGT CACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGT GCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGT GTGGTCACGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGG GAAGTGCTCACCGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGC CAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACG GGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCT CACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGT GGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGA AGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAG TGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGG GTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGAGAAGTGCTCG CTGTAAATGAGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1204		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687355	G G	GGTGAGCA others(698): Show GGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCTCA CCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCCGTGACCACA CACTGGCGGCGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCA CTTCCCACCCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTG ACCACTCATTTACAGCGAGCACTTCCCACCCCGTGACCACACACTAGCGG TGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACC CCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACATT TACAGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTC CCACCCCGTGACCACGCACTGGCGGTGAGCACTTCCCACCCCGTGACCAC ACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAG CACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGT GACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACATTTACA GTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCAC CCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACA TTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	224	0.0045	705	c.-17 others(716): Show c.-1752_-1751insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGG TCACGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAG TGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTG TGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGT GGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCG CCAGTGCGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCAC GGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCT CACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTG GTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAA GTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGT GTGTGGTCACGGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGGG TGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCGC CGCCAGTGTGTGGTCACGGGGGTGAGAAGTGCTCGCTGTAAATGAGTGGT CACGGGGTGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1510		chr8	TogoVar
B3GNTL1_chr17_82937149_83056770	83022660	G G	GCCCACCT others(698): Show GCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCC CACCTGCACCGGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGGCCCAC CTGCACCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGGCCCACCTG CACCAGCGTGAACTCACATGAGCTCAGCACTGTCCCCGGCCCACCTGCAC CAGCGTGAACTCACGTTAGCTCAGCACTGTCCCCGGCCCACCTGCACCAG CGTGAACTCACGTTAGCTTAGCACTGTCCCCGGCCCACCTGCACCAGCGT GAACTCACATGAGCTTAGCACTGTCCCCGGCCCACCTGCACCGGCGTGAA CTCACGTTAGCTCAGCACTGTCCCCGCCCCACCTGCACCGGCGTGAACTC ACGTTAGCTTAGCACTGTCCTCGGCCCACCTGCACCAGCGTGAACTCACA TGAGCTTAGCACTGTCCCCGCCCCACCTGCACCAGCGTGAACTCACATGA GCTTAGCACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACATGAGCT TAGCACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACGTTAGCTTAG CACTGTCCCCGCCCCACCTGCACCAGCGTGAACTCACGTTAGCTTAGCAC TGTCCCCGGCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGT CCCCGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02132.hp2 HG02165.hp2 HG00438.hp1 HG02132.hp2 HG02165.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0002c0005t0003 a0001c0001t0002 a0002c0005t0003	a0001c0001t0002g0059 a0002c0005t0003g0057 a0002c0005t0003g0058 a0001c0001t0002g0059 a0002c0005t0003g0057 a0002c0005t0003g0058	3	159	0.0189	705	c.298 others(722): Show c.298-8142_298-8141insGCGGGGACAGTGCTAAGCTCATGTGAGT TCACGCTGGTGCAGGTGGGCCGGGGACAGTGCTAAGCTAACGTGAGTTCA CGCTGGTGCAGGTGGGGCGGGGACAGTGCTAAGCTAACGTGAGTTCACGC TGGTGCAGGTGGGCCGGGGACAGTGCTAAGCTCATGTGAGTTCACGCTGG TGCAGGTGGGCCGGGGACAGTGCTAAGCTCATGTGAGTTCACGCTGGTGC AGGTGGGGCGGGGACAGTGCTAAGCTCATGTGAGTTCACGCTGGTGCAGG TGGGCCGAGGACAGTGCTAAGCTAACGTGAGTTCACGCCGGTGCAGGTGG GGCGGGGACAGTGCTGAGCTAACGTGAGTTCACGCCGGTGCAGGTGGGCC GGGGACAGTGCTAAGCTCATGTGAGTTCACGCTGGTGCAGGTGGGCCGGG GACAGTGCTAAGCTAACGTGAGTTCACGCTGGTGCAGGTGGGCCGGGGAC AGTGCTGAGCTAACGTGAGTTCACGCTGGTGCAGGTGGGCCGGGGACAGT GCTGAGCTCATGTGAGTTCACGCTGGTGCAGGTGGGCCGGGGACAGTGCT AAGCTAACGTGAGTTCACGCTGGTGCAGGTGGGCCGGGGACAGTGCTAAG CTAACGTGAGTTCACGCCGGTGCAGGTGGGCCGGGGACAGTGCTAAGCTC ATGTGAGTTCACGCTGGTGCAGGTGGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83023271	C C	CCCCACCT others(698): Show CCCCACCTGCACCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGGCC CACCTGCACCAGCGTGAACTCACGTTAGCTTAGGACTGTCCCCGGCCCAC CTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCACCTG CACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGCCCCACCTGCAC CAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGCCCCACCTGCACCAG CGTGAACTCACGTTAGCTTAGCACTGTCCCCGGCCCACCTGCACCAGCGT GAACTCACATGAGCTTAGCACTGTCCCCGCCCCACCTGCACCAGCGTGAA CTCACATGAGCTTAGCACTGTCCCCGGCCCACCTGCACCAGCGTGAACTC ACGTTAGCTTAGCACTGTCCCCGCCCCACCTGCACCAGCGTGAACTCACG TTAGCTTAGCACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACGTTA GCTTAGGACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACATGAGCT TAGCACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACATGAGCTTAG CACTGTCCCCGCCCCACCTGCACCAGCGTGAACTCACGTTAGCTTAGCAC TGTCCCCGCCCCACCTGCACCAGCGTGAACTCACGTTAGCTTAGCACTGT CCCCGG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0099 a0001c0002t0008g0099	1	155	0.0065	705	c.298 others(722): Show c.298-8753_298-8752insCCGGGGACAGTGCTAAGCTAACGTGAGT TCACGCTGGTGCAGGTGGGGCGGGGACAGTGCTAAGCTAACGTGAGTTCA CGCTGGTGCAGGTGGGGCGGGGACAGTGCTAAGCTCATGTGAGTTCACGC TGGTGCAGGTGGGCCGGGGACAGTGCTAAGCTCATGTGAGTTCACGCTGG TGCAGGTGGGCCGGGGACAGTCCTAAGCTAACGTGAGTTCACGCTGGTGC AGGTGGGCCGGGGACAGTGCTAAGCTAACGTGAGTTCACGCTGGTGCAGG TGGGGCGGGGACAGTGCTAAGCTAACGTGAGTTCACGCTGGTGCAGGTGG GCCGGGGACAGTGCTAAGCTCATGTGAGTTCACGCTGGTGCAGGTGGGGC GGGGACAGTGCTAAGCTCATGTGAGTTCACGCTGGTGCAGGTGGGCCGGG GACAGTGCTAAGCTAACGTGAGTTCACGCTGGTGCAGGTGGGGCGGGGAC AGTGCTAAGCTAACGTGAGTTCACGCTGGTGCAGGTGGGGCGGGGACAGT GCTAAGCTCATGTGAGTTCACGCTGGTGCAGGTGGGCCGGGGACAGTGCT AAGCTCATGTGAGTTCACGCTGGTGCAGGTGGGCCGGGGACAGTCCTAAG CTAACGTGAGTTCACGCTGGTGCAGGTGGGCCGGGGACAGTGCTAAGCTA ACGTGAGTTCACGCTGGTGCAGGTGGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
BRSK2_chr11_1384934_1467689	1433099	A A	AGGTTTTG others(698): Show AGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGG TTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTT TGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGC CACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCAC TGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGT GCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCT CAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAG CGGTGAGCGTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGG TGAGCGTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGA GCGTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCG TCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCTCAGCGGTGAGCGTCT TCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTTCT GCGGTCTGGTCGGGTTTTGCCACTGTGCTCAGCGGTGAGCGTCTTCTGCG GTCTGGTCGGGTTTTGCCACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTC TGGTCG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0244 a0002c0002t0010g0244	1	332	0.0030	705	c.92- others(720): Show c.92-2925_92-2924insCCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGG TTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTT TGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGC CACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCAC TGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGT GCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCT CAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAG CGGTGAGCGTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGG TGAGCGTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGA GCGTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCTCAGCGGTGAGCG TCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCT TCTGCGGTCTGGTCGGGTTTTGCCACTGTGCTCAGCGGTGAGCGTCTTCT GCGGTCTGGTCGGGTTTTGCCACTGTGCTCAGCGGTGAGCGTCTTCTGCG GTCTGGTCGGGTTTTGCCACTGTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C11orf24_chr11_68256338_68276973	68264684	C C	CTATCCAT others(698): Show CTATCCATCCATCCACCCACCCACCCCATCCATCCACCCACTCATCCATC CATCCATCCATCCATCCTTCTATCCATCTACTCATCTGTCCATCCATCCA TCCATCCACCCACCCATCCACCCACCCACTCTTCCATCCATCCATCCACC CACTATTCTATACATCTACTCATCTGTCCATCCATAGGTTCACTCATCCA TCCATCCATCCATCTACCCACCCACCCATCCATCTATCCACTATTCTATT CATCTATTCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATTCATCCATCCATCCACTCATCCACTTTTCCATCCATCTACTCATC TGTCCATCCACCCACCCATGCATCCATCCATCCACCCACCTGTCCATCCA CCCATCCACCCACCCACCCGTCCATCCACCCACCCATCCGTCCATCCACC CATCCATCCACCCACCCACCCACCCATCCATCCATCCACCCACCCACCCA CCCATCCACCCACCCACTCACCCATCCATCCATCCATCCACCCATCCATC CATCCATCCATCCACCCATCCATCCATCCACCCACCCATCTATCCATCCA TCCATCCACCCACCCACCCACCCATACACTCATCCATCCATCCATCCATC CATCCATCCATCCATCCACCCATCCATCCATCCATCCACCCACCCACCCA CACACT	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18971.hp2 NA18985.hp1 others(8): Show HG02027.hp1 NA18971.hp2 NA18985.hp1 NA18987.hp2 NA18992.hp2 NA18999.hp1 NA19005.hp2 NA19009.hp1 NA19064.hp2 NA19065.hp2 NA19075.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0106 a0001c0002t0001g0009 a0001c0002t0001g0106	11	91	0.1209	705	c.-99 others(720): Show c.-99-819_-99-818insAGTGTGTGGGTGGGTGGGTGGATGGATGGA TGGATGGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGAGTG TATGGGTGGGTGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGA TGGATGGATGGGTGGATGGATGGATGGATGGATGGGTGGATGGATGGATG GATGGGTGAGTGGGTGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGGA TGGGTGGGTGGGTGGGTGGATGGATGGGTGGATGGACGGATGGGTGGGTG GATGGACGGGTGGGTGGGTGGATGGGTGGATGGACAGGTGGGTGGATGGA TGGATGCATGGGTGGGTGGATGGACAGATGAGTAGATGGATGGAAAAGTG GATGAGTGGATGGATGGATGAATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGACAGATGAATAGATGAATAGAATAGTGGATAGATGGATG GGTGGGTGGGTAGATGGATGGATGGATGGATGAGTGAACCTATGGATGGA CAGATGAGTAGATGTATAGAATAGTGGGTGGATGGATGGATGGAAGAGTG GGTGGGTGGATGGGTGGGTGGATGGATGGATGGATGGACAGATGAGTAGA TGGATAGAAGGATGGATGGATGGATGGATGGATGAGTGGGTGGATGGATG GGGTGGGTGGGTGGATGGATGGATA	C11orf24	ENSG00000171067.11	transcript	ENST00000304271.11	protein_coding	2/3			chr11	TogoVar
C11orf24_chr11_68256338_68276973	68264684	C C	CTATCCAT others(698): Show CTATCCATCCATCCACCCACCCACCCCATCCATCCACCCACTCATCCATC CATCCATCCATCCATCCTTCTATCCATCTACTCATCTGTCCATCCATCCA TCCATCCACCCACCCATCCACCCACCCACTCTTCCATCCATCCATCCACC CACTATTCTATACATCTACTCATCTGTCCATCCATAGGTTCACTCATCCA TCCATCCATCCATCTACCCACCCACCCATCCATCTATCCACTATTCTATT CATCTATTCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATTCATCCATCCATCCACTCATCCACTTTTCCATCCATCTACTCATC TGTCCATCCACCCACCCATGCATCCATCCATCCACCCACCTGTCCATCCA CCCATCCACCCACCCACCCGTCCATCCACCCACCCATCCGTCCATCCACC CATCCATCCACCCACCCACCCACCCATCCATCCATCCACCCACCCACCCA CCCATCCACCCACCCACTCACCCATCCATCCATCCATCCACCCATCCATC CATCCATCCATCCACCCATCCATCCATCCACCCACCCATCTATCCATCCA TCCATCCACCCACCCACCCACCCATACACTCATCCATCCATCCATCCATC CATCCATCCATCCATCCACCCATCCATCCATCCATCCATCCACCCACCCA CACACT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(58): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00639.hp2 HG01081.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01884.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02129.hp1 HG02132.hp1 HG02165.hp2 HG02300.hp2 HG02683.hp1 HG02886.hp1 HG03041.hp1 HG03491.hp2 HG03669.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 NA18612.hp2 NA18747.hp1 NA18941.hp2 NA18944.hp2 NA18949.hp2 NA18952.hp1 NA18953.hp2 NA18956.hp2 NA18960.hp1 NA18967.hp2 NA18969.hp2 NA18972.hp2 NA18980.hp2 NA18984.hp2 NA18993.hp1 NA18998.hp2 NA18999.hp2 NA19004.hp2 NA19007.hp1 NA19054.hp2 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19070.hp1 NA19078.hp2 NA19080.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA21309.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0007	a0001c0002 a0001c0007 a0003c0003 others(2): Show a0001c0002 a0001c0007 a0003c0003 a0005c0008 a0007c0009	a0001c0002t0001 a0001c0007t0001 a0003c0003t0001 others(2): Show a0001c0002t0001 a0001c0007t0001 a0003c0003t0001 a0005c0008t0001 a0007c0009t0001	a0001c0002t0001g0002 a0001c0002t0001g0021 a0001c0002t0001g0022 others(16): Show a0001c0002t0001g0002 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0025 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0086 a0001c0002t0001g0090 a0001c0002t0001g0095 a0001c0002t0001g0103 a0001c0002t0001g0107 a0001c0002t0001g0110 a0001c0007t0001g0099 a0003c0003t0001g0039 a0005c0008t0001g0100 a0007c0009t0001g0094	61	141	0.4326	705	c.-99 others(720): Show c.-99-819_-99-818insAGTGTGTGGGTGGGTGGATGGATGGATGGA TGGATGGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGAGTG TATGGGTGGGTGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGA TGGATGGATGGGTGGATGGATGGATGGATGGATGGGTGGATGGATGGATG GATGGGTGAGTGGGTGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGGA TGGGTGGGTGGGTGGGTGGATGGATGGGTGGATGGACGGATGGGTGGGTG GATGGACGGGTGGGTGGGTGGATGGGTGGATGGACAGGTGGGTGGATGGA TGGATGCATGGGTGGGTGGATGGACAGATGAGTAGATGGATGGAAAAGTG GATGAGTGGATGGATGGATGAATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGACAGATGAATAGATGAATAGAATAGTGGATAGATGGATG GGTGGGTGGGTAGATGGATGGATGGATGGATGAGTGAACCTATGGATGGA CAGATGAGTAGATGTATAGAATAGTGGGTGGATGGATGGATGGAAGAGTG GGTGGGTGGATGGGTGGGTGGATGGATGGATGGATGGACAGATGAGTAGA TGGATAGAAGGATGGATGGATGGATGGATGGATGAGTGGGTGGATGGATG GGGTGGGTGGGTGGATGGATGGATA	C11orf24	ENSG00000171067.11	transcript	ENST00000304271.11	protein_coding	2/3			chr11	TogoVar
C11orf24_chr11_68256338_68276973	68264684	C C	CTATCCAT others(698): Show CTATCCATCCATCCACCCACCCACCCCATCCATCCACCCACTCATCCATC CATCCATCCATCCATCCTTCTATCCATCTACTCATCTGTCCATCCATCCA TCCATCCACCCACCCATCCACCCACCCACTCTTCCATCCATCCATCCACC CACTATTCTATACATCTACTCATCTGTCCATCCATAGGTTCACTCATCCA TCCATCCATCCATCTACCCACCCACCCATCCATCTATCCACTATTCTATT CATCTATTCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCA TTCATCCATCCATCCACTCATCCACTTTTCCATCCATCTACTCATCTGTC CATCCACCCACCCATGCATCCATCCATCCACCCACCTGTCCATCCACCCA TCCACCCACCCACCCGTCCATCCACCCACCCATCCGTCCATCCACCCATC CATCCACCCACCCACCCACCCATCCATCCATCCATCCACCCACCCACCCA TCCACCCACCCACTCACCCATCCATCCATCCATCCACCCATCCATCCATC CATCCATCCACCCATCCATCCATCCACCCACCCATCTATCCATCCATCCA TCCACCCACCCACCCACCCACCCATACACTCATCCATCCATCCATCCATC CATCCATCCATCCATCCACCCATCCATCCATCCATCCATCCACCCACCCA CACACT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02630.hp1 HG01884.hp2 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0046	2	82	0.0244	705	c.-99 others(720): Show c.-99-819_-99-818insAGTGTGTGGGTGGGTGGATGGATGGATGGA TGGATGGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGAGTG TATGGGTGGGTGGGTGGGTGGGTGGATGGATGGATGGATAGATGGGTGGG TGGATGGATGGATGGGTGGATGGATGGATGGATGGATGGGTGGATGGATG GATGGATGGGTGAGTGGGTGGGTGGATGGGTGGGTGGGTGGATGGATGGA TGGATGGGTGGGTGGGTGGGTGGATGGATGGGTGGATGGACGGATGGGTG GGTGGATGGACGGGTGGGTGGGTGGATGGGTGGATGGACAGGTGGGTGGA TGGATGGATGCATGGGTGGGTGGATGGACAGATGAGTAGATGGATGGAAA AGTGGATGAGTGGATGGATGGATGAATGGATGGATGGATGGATGGATGGA TGGATGGATGGACAGATGAATAGATGAATAGAATAGTGGATAGATGGATG GGTGGGTGGGTAGATGGATGGATGGATGGATGAGTGAACCTATGGATGGA CAGATGAGTAGATGTATAGAATAGTGGGTGGATGGATGGATGGAAGAGTG GGTGGGTGGATGGGTGGGTGGATGGATGGATGGATGGACAGATGAGTAGA TGGATAGAAGGATGGATGGATGGATGGATGGATGAGTGGGTGGATGGATG GGGTGGGTGGGTGGATGGATGGATA	C11orf24	ENSG00000171067.11	transcript	ENST00000304271.11	protein_coding	2/3			chr11	TogoVar
CABP5_chr19_48024383_48049079	48043533	C C	CCACCACC others(698): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCATCACCACCACCATCACCACCACCATCACCATCACCATCACCAC CACCACCATCACCACCAGCACCACCAGCACCACCAGCACCACCACCATCA ACATCATCATCATCACCACCATCACCACCATCATCACCACCACCGTCATC ACCACCAGCACCACCATCACCACCACCATCACCACCATCTCACCATCATC ACCATCACCATCACCATCACCACCATCTCACCATCACCATCACCACCATC ATCACCACCACCATCTCACCATCACCATCACCACCATCATCACCACCACC ATCACCACCACCATCACCATCACCATCACCACCATCATCATCACCACCAT CACCACCACCACCACCACCATCATCACCATCACCACCAGCACCACCACCA TCACCACCACCATCACCACCACCACCACCACCATCATCACCATCACCACC AGCACCACCACCAACATCATCATCATCACCACCACCACCACCATCACCAC CACCACCACCATCAACACCACCATCATCATCACCACCACCACCATCACCA CCATCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03195.hp1 HG02109.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0022 a0001c0001t0002 a0001c0002t0022	a0001c0001t0002g0178 a0001c0002t0022g0177 a0001c0001t0002g0178 a0001c0002t0022g0177	2	152	0.0132	705	c.63+ others(718): Show c.63+326_63+327insAGATGGTGGTGATGGTGGTGGTGGTGATGATG ATGGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGAT GATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGATGATGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGCTGGTGGTGATGGTG ATGATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGATGATGGTGGTGAT GGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGG TGATGGTGAGATGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGAGAT GGTGGTGATGGTGATGGTGATGGTGATGATGGTGAGATGGTGGTGATGGT GGTGGTGATGGTGGTGCTGGTGGTGATGACGGTGGTGGTGATGATGGTGG TGATGGTGGTGATGATGATGATGTTGATGGTGGTGGTGCTGGTGGTGCTG GTGGTGCTGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGATGGTGGT GGTGATGGTGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTGGTGAT GGTGATGATGATGGTGGTGGTGATGGTGAGATGGTGGTGATGGTGGTGGT GGTGGTTATGGTGGTGGTGGTGGTGATGATGGTGATGATGATGGTGTTGA TGATGGTGATGATGATGGTGGTG	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	1/5			chr19	TogoVar
CAMKK2_chr12_121232692_121301709	121255224	A A	ATATATAT others(698): Show ATATATATAATTATATATATATAATTATATATATAATTTTATATATATAT AATTATATATATAATTTTATATATATATAATTATATATATTTATATATAT ATAATTATATATATATATAAAATTATATATATAATTATATATATTATATA TAATTATATATATAATTTTATATATATAATTATATATATTTATATATATA TATATAATTATATATATATATAAAATTATATATATAATTATATATATATT ATATATAATTATATATATATATTATATATAATTTTATATATATAATTATA TATATAATTTTATATATATAATTTTATATATATAATTTTATATATATAAT TTTATATATATAATCTATATATATAATTTTATATATATATAATTATATAT ATAATTTTATATATATAATTATATATATAATTTTATATATATATAATTAT ATATATAATTTTATATATATATAATTATATATATAATTTTATATATATAT AATTATATATATAATTATATATATAATTTTATATATATAATTATATATAT AATTTTATATATATATAATTATATATATAATTTTATATATATAATTATAT ATATAATTTTATATATATATAATTATATATATAATTTTATATATATATAA TTATATATATAATTTTATATATATAATTATATATATAATTTTATATATAT AATAAT	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0001 a0008c0020t0001	a0008c0020t0001g0293 a0008c0020t0001g0293	1	315	0.0032	705	c.907 others(720): Show c.907+325_907+326insATTATTATATATATAAAATTATATATATAA TTATATATATAAAATTATATATATAATTATATATATATAAAATTATATAT ATAATTATATATATATAAAATTATATATATAATTATATATATAAAATTAT ATATATAATTATATATATATAAAATTATATATATAATTATATATATAAAA TTATATATATAATTATATATATAATTATATATATATAAAATTATATATAT AATTATATATATATAAAATTATATATATAATTATATATATATAAAATTAT ATATATAATTATATATATAAAATTATATATATAATTATATATATATAAAA TTATATATATAGATTATATATATAAAATTATATATATAAAATTATATATA TAAAATTATATATATAAAATTATATATATAATTATATATATAAAATTATA TATAATATATATATATAATTATATATAATATATATATAATTATATATATA ATTTTATATATATATATAATTATATATATATATATAAATATATATAATTA TATATATAAAATTATATATATAATTATATATAATATATATAATTATATAT ATAATTTTATATATATATATAATTATATATATATAAATATATATAATTAT ATATATATAAAATTATATATATAATTATATATATATAAAATTATATATAT AATTATATATATATAATTATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CCDC141_chr2_178824757_179055137	178903090	T T	TAAAAAGT others(698): Show TAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGGAA CACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAG TCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCC AGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGCT ATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCA AAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAA AATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATG AGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTC AGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCAT AGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCA CACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGG GAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCA TGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCC TAAAACTTAGAGTATAATAAAAAAAAACAAAACAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18939.hp2 NA18940.hp1 others(14): Show HG03669.hp1 NA18939.hp2 NA18940.hp1 NA18946.hp1 NA18949.hp1 NA18955.hp1 NA18964.hp2 NA18965.hp1 NA18968.hp2 NA18980.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA19055.hp2 NA19074.hp1 NA19081.hp2 NA19085.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0001c0020 others(1): Show a0001c0001 a0001c0007 a0001c0020 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 a0001c0001t0054 a0001c0007t0006 a0001c0007t0074 a0001c0020t0003 a0003c0004t0001	a0001c0001t0002g0038 a0001c0001t0002g0137 a0001c0001t0003g0012 others(14): Show a0001c0001t0002g0038 a0001c0001t0002g0137 a0001c0001t0003g0012 a0001c0001t0003g0014 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0026 a0001c0001t0003g0031 a0001c0001t0003g0062 a0001c0001t0003g0121 a0001c0001t0017g0015 a0001c0001t0054g0025 a0001c0007t0006g0037 a0001c0007t0074g0036 a0001c0020t0003g0010 a0001c0020t0003g0058 a0003c0004t0001g0151	17	238	0.0714	705	c.126 others(724): Show c.1265+2238_1265+2239insTTTTTTTTTTTTTTTTTTTTTTTGTT TTGTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTG CAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCAC TAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCC TCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGT CCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTG TTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATT TCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCA TAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCAT TGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCG CAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCA TTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAG TTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTA GTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCT CTCCAGCACCTGTTGTTTCCTGACTTTTT	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	8/23			chr2	TogoVar
CCDC141_chr2_178824757_179055137	178903090	T T	TAAAAAGT others(698): Show TAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGGAA CACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAG TCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCC AGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGCT ATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCA AAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAA AATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATG AGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTC AGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCAT AGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCA CACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGG GAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCA TGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCC TAAAACTTAGAGTATAATAAAAAAAAACAAAACAAAAAACAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02165.hp2 HG00438.hp1 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0011 a0001c0001t0003g0004 a0001c0001t0003g0011	2	223	0.0090	705	c.126 others(724): Show c.1265+2238_1265+2239insTTTTTTTTTTTTTTTTGTTTTTTGTT TTGTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTG CAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCAC TAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCC TCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGT CCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTG TTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATT TCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCA TAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCAT TGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCG CAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCA TTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAG TTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTA GTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCT CTCCAGCACCTGTTGTTTCCTGACTTTTT	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	8/23			chr2	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(698): Show GGGAGGGGGGAGGAGGGGGAGCAGGGAGGGGGGAGGAGGGGGAGCTGGGG AGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGG GGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGG GAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAG GAGGGGGAGCTGGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGG GAGCAGGGGAGGGGGGAGGAGGGGAGCTGGGGAGGGGGGAGGAGGGGGAG CTGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGGGAGGAGGGGGAGCTGG GGAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGA GGGGGGAGGAGGGGGAGCTGGGGAGGGGAGGAGGGGGAGCTGGGGAGGGG AGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAG GAGGGGGAGCAGGGGAGGGGGAGGAGGGAGAGCAGGGGAGGGGGGAGGAG GGGGAGCTGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGG GAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGA GCAGGGGAGGGGGAGGAGGGGGAGCAGTGGAGGGGGGAGAAGAGGAGGGG GGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0006 a0002c0006t0006	a0002c0006t0006g0127 a0002c0006t0006g0127	1	11	0.0909	705	c.-26 others(714): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTC CTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTC CCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCC CCTCCCCTGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCTCCTCCCCTCCC CAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCT GCTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCCCAGCTCC CCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTC CTCCCCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCC CTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCT CCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCC CTGCTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCTGC TCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CNTN6_chr3_1088024_1409217	1245281	A A	ATATATAT others(698): Show ATATATATAATATATATATAACATATATAATATATATATAACATATATAT ATAATATATATAACATATATATATAATATATATATAACATATATATATTA TATATATATAACATATATATATAATATATATATAACATATATAATATATA TATAACATATATATAATATATATATAACATATATATAATATATATATAAC ATATATAATATATATATAACATATATATAATATATATATAACATATATAT ATTATATATATAACATATATATATTATATATATAACATATATATATTATA TATAACATATATATATAATATATATATAACATATATATATTATATATATA ACATATATATTATATATATAACATATATATTATATATATAACATATATAT TATATATATAACATATATATTATATATATAACATATATATATAATATATA TATAACATATATATATAATATATATATAACATATATATATAATATATATA ACATATATATATATAATATATATATAACATATATATATAATATATATATA ACATATATATATAATATATATATAACATATATATATAATATATATATAAC ATATATATATAATATATATATAACATATATATATAATATATATATAACAT ATATATATAATATATATATAACATATATATATAATATATATATAACATAT ATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0042 a0001c0004t0001g0042	1	222	0.0045	705	c.358 others(724): Show c.358+17288_358+17289insTATATATAATATATATATAACATATA TAATATATATATAACATATATATATAATATATATAACATATATATATAAT ATATATATAACATATATATATTATATATATATAACATATATATATAATAT ATATATAACATATATAATATATATATAACATATATATAATATATATATAA CATATATATAATATATATATAACATATATAATATATATATAACATATATA TAATATATATATAACATATATATATTATATATATAACATATATATATTAT ATATATAACATATATATATTATATATAACATATATATATAATATATATAT AACATATATATATTATATATATAACATATATATTATATATATAACATATA TATTATATATATAACATATATATTATATATATAACATATATATTATATAT ATAACATATATATATAATATATATATAACATATATATATAATATATATAT AACATATATATATAATATATATAACATATATATATATAATATATATATAA CATATATATATAATATATATATAACATATATATATAATATATATATAACA TATATATATAATATATATATAACATATATATATAATATATATATAACATA TATATATAATATATATATAACATATATATATAATATATATATAACATATA TATATAATATATATATAACATATATATAT	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22			chr3	TogoVar

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