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
PSMD12_chr17_67332916_67371577	67368684	T T	TTAAAAGT others(356): Show TTAAAAGTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTG GCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0094 a0001c0001t0040g0094	1	398	0.0025	363	c.-21 others(374): Show c.-2166_-2165insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTCACTTTTA	PSMD12	ENSG00000197170.10	transcript	ENST00000356126.8	protein_coding		2108		chr17	TogoVar
PTPRT_chr20_42067756_43194906	42508951	T T	TATTTAAT others(356): Show TATTTAATTTATAGATATAAATTATATAATTTACATTTAATTTATAGATA TAAATTATATAATTTACATTTAATTTATAGATATAAATTATATAATTTAC ATTTAATTTATAGATATAAATTATATAATTTACATTTAATTTATAGATAT AAATTATATAATTTACATTTAATTTATAGATATAAATTATATAATTTACA TTTAATTTATAGATATAAATTATATAATTTACATTTAATTTATAGATATA AATTATATAATTTACATTTAATTTATAGATATAAATTATATAATTTACAT TTAATTTATAGATATAAATTATATAATTTACATTTAATTTATAGATATAA ATTATATAATTTAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0016 a0003c0020t0016	a0003c0020t0016g0029 a0003c0020t0016g0029	1	62	0.0161	363	c.115 others(384): Show c.1154-36390_1154-36389insGTAAATTATATAATTTATATCTAT AAATTAAATGTAAATTATATAATTTATATCTATAAATTAAATGTAAATTA TATAATTTATATCTATAAATTAAATGTAAATTATATAATTTATATCTATA AATTAAATGTAAATTATATAATTTATATCTATAAATTAAATGTAAATTAT ATAATTTATATCTATAAATTAAATGTAAATTATATAATTTATATCTATAA ATTAAATGTAAATTATATAATTTATATCTATAAATTAAATGTAAATTATA TAATTTATATCTATAAATTAAATGTAAATTATATAATTTATATCTATAAA TTAAATGTAAATTATATAATTTATATCTATAAATTAAAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42993447	T T	TATATATA others(356): Show TATATATACACACATATATATACACATATATGTGTGTGTGTATATATATA TACACATATATATGTGTGTGTATATATATATACACATATATATAGTGTGT GTATATATATACATATATTTGTGTATATATATACATATATGTGTGTGTAT ATATATACATATATGTGTGTGTGTATATATACATATGTGTGTGTATATAT ACATATATATGTGTGTGTATATATACACATATATGTGTGTGTATATATAC ATATATGTGTATATATACACATATATGTATATATACACACACATATATGT GTATATATACACACACATATATGTGTATATATACACACACATATATGTGT ATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0056 a0001c0031t0001g0056	1	62	0.0161	363	c.89- others(382): Show c.89-107516_89-107515insGTGTGTGTATATATACACATATATGT GTGTGTATATATACACATATATGTGTGTGTATATATACACATATATGTGT GTGTATATATACATATATGTGTATATATACACATATATGTATATATACAC ACACATATATGTGTATATATACACACACATATATATGTATATATACACAC ACATATGTATATATACACACACACATATATGTATATATATACACACACAT ATATGTATATATATACACAAATATATGTATATATATACACACACTATATA TATGTGTATATATATATACACACACATATATATGTGTATATATATATACA CACACACATATATGTGTATATATATGTGTGTATATAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
PWWP2B_chr10_132392200_132422859	132392560	A A	AATGGTGA others(356): Show AATGGTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGA TGGTGATGGTGGTGGTAATGGTGATGATGGTGATGGTGATGATGATGGTG GTGGTGGTGATAACGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGT GATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGG TGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATG GTGATGATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGAT GGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGG TAATGATGATGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0167 a0003c0005t0001g0167	1	374	0.0027	363	c.-46 others(374): Show c.-4667_-4666insATGGTGATGATGGTGATGGTGATGATGGTGGTGG TGGTGATAATGGTGATGGTGATGGTGGTGGTAATGGTGATGATGGTGATG GTGATGATGATGGTGGTGGTGGTGATAACGGTGATGGTGATGGTGGTGGT GGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGA TGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATG GTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTGGTGGTGGTAAT GGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGG TGATGGGGGTGGTGGTAATGATGATGGTG	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4639		chr10	TogoVar
RADIL_chr7_4792055_4888716	4808716	C C	CTTCCGAC others(356): Show CTTCCGACGCCACTGGCCCCGTTCCAACGCCACTGCCCCTCCGAGTCTCC TTCCAACGCCACTGCCCCCCGTTCCGACGCCACTGCCCTCCATTCCAACA CCACTGCCCCTCCGTGTCTCCTTCCGACGCCACTGCCCCCGTTCCAACAC CACTGCCCCTCCGTGTCTCCTTCCGACGCCACTGCCCCCCCGCGTCTCCT TCCGACGCCACTGCCCCCCCGCGTCTCCTTCCGACGCCACTGCCCCCCCG CGTCTCCTTCCGACGCCACTGCCCCCCCGCGTCTCCTTCCGACGCCACTG CCCCTCCGCGTCCCCTTCCGACGCCACTGCCCCTCCGTTTCTCCTTCCGA CGCCACTGGCCCCG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01081.hp2 HG01361.hp1 others(1): Show HG01074.hp2 HG01081.hp2 HG01361.hp1 HG03491.hp1	a0012 a0028 a0012 a0028	a0012c0019 a0028c0055 a0012c0019 a0028c0055	a0012c0019t0019 a0012c0019t0026 a0028c0055t0026 a0012c0019t0019 a0012c0019t0026 a0028c0055t0026	a0012c0019t0019g0050 a0012c0019t0019g0052 a0012c0019t0026g0164 others(1): Show a0012c0019t0019g0050 a0012c0019t0019g0052 a0012c0019t0026g0164 a0028c0055t0026g0190	4	292	0.0137	363	c.214 others(382): Show c.2140-3001_2140-3000insCGGGGCCAGTGGCGTCGGAAGGAGAA ACGGAGGGGCAGTGGCGTCGGAAGGGGACGCGGAGGGGCAGTGGCGTCGG AAGGAGACGCGGGGGGGCAGTGGCGTCGGAAGGAGACGCGGGGGGGCAGT GGCGTCGGAAGGAGACGCGGGGGGGCAGTGGCGTCGGAAGGAGACGCGGG GGGGCAGTGGCGTCGGAAGGAGACACGGAGGGGCAGTGGTGTTGGAACGG GGGCAGTGGCGTCGGAAGGAGACACGGAGGGGCAGTGGTGTTGGAATGGA GGGCAGTGGCGTCGGAACGGGGGGCAGTGGCGTTGGAAGGAGACTCGGAG GGGCAGTGGCGTTGGAACGGGGCCAGTGGCGTCGGAA	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	9/14			chr7	TogoVar
RBFOX3_chr17_79084345_79616051	79138691	G G	GACACAGC others(356): Show GACACAGCACATGCGTTCATGCCCCCCTCACCCACACACGCACACACACA GCACATGCATTCACACCCCCTCACCCATACATATGCACACGCACATGTTC ATGCCCCCCTCACCCACACATGCACACAGCACATGTTCATGCCCCCTCAC CCACACATGCACACACAGCACATGCGTTCACACCCCCTTCACCCATGCAC GCACACAGCACATGCATTCACACCCTCACCCATACACATGGACACAGCAC ATGCGTTCATGCCCCCCTCACCCACACACGCACACACACAGCACATGCAT TCACACCCCCTCACCCATACATATGCACACGCACATGTTCATGCCCTCAC CCACACACGCACGC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0153 a0001c0002t0002g0153	1	154	0.0065	363	c.-33 others(382): Show c.-33-22944_-33-22943insGCGTGCGTGTGTGGGTGAGGGCATGA ACATGTGCGTGTGCATATGTATGGGTGAGGGGGTGTGAATGCATGTGCTG TGTGTGTGCGTGTGTGGGTGAGGGGGGCATGAACGCATGTGCTGTGTCCA TGTGTATGGGTGAGGGTGTGAATGCATGTGCTGTGTGCGTGCATGGGTGA AGGGGGTGTGAACGCATGTGCTGTGTGTGCATGTGTGGGTGAGGGGGCAT GAACATGTGCTGTGTGCATGTGTGGGTGAGGGGGGCATGAACATGTGCGT GTGCATATGTATGGGTGAGGGGGTGTGAATGCATGTGCTGTGTGTGTGCG TGTGTGGGTGAGGGGGGCATGAACGCATGTGCTGTGT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79138691	G G	GACACAGC others(356): Show GACACAGCACATGCGTTCATGCCCCCCTCACCCACACACGCACACACACA GCACATGCATTCACACCCCCTCACCCATACATATGCACACGCACATGTTC ATGCCCCCCTCACCCACACATGCACACAGCACATGTTCATGCCCCCTCAC CCACACATGCACACACAGCACATGCGTTCACACCCCCTTCACCCATGCAC GCACACAGCACATGCATTCACACCCTCACCCATACACATGGACACAGCAC ATGCGTTCATGCCCCCCTCACCCACACACGCACACACACAGCAGATGCAT TCACACCCCCTCACCCATACATATGCACACGCACATGTTCATGCCCTCAC CCACACACGCACGC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01255.hp2 HG02258.hp2 HG00639.hp2 HG01255.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0021 a0001c0002t0001 a0001c0001t0004 a0001c0001t0021 a0001c0002t0001	a0001c0001t0004g0097 a0001c0001t0021g0026 a0001c0002t0001g0063 a0001c0001t0004g0097 a0001c0001t0021g0026 a0001c0002t0001g0063	3	154	0.0195	363	c.-33 others(382): Show c.-33-22944_-33-22943insGCGTGCGTGTGTGGGTGAGGGCATGA ACATGTGCGTGTGCATATGTATGGGTGAGGGGGTGTGAATGCATCTGCTG TGTGTGTGCGTGTGTGGGTGAGGGGGGCATGAACGCATGTGCTGTGTCCA TGTGTATGGGTGAGGGTGTGAATGCATGTGCTGTGTGCGTGCATGGGTGA AGGGGGTGTGAACGCATGTGCTGTGTGTGCATGTGTGGGTGAGGGGGCAT GAACATGTGCTGTGTGCATGTGTGGGTGAGGGGGGCATGAACATGTGCGT GTGCATATGTATGGGTGAGGGGGTGTGAATGCATGTGCTGTGTGTGTGCG TGTGTGGGTGAGGGGGGCATGAACGCATGTGCTGTGT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RELB_chr19_44996464_45043192	45038561	T T	TAAAAAAT others(356): Show TAAAAAATGAGACCGGGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA19054.hp1 NA18973.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0195 a0001c0001t0002g0105 a0001c0001t0002g0195	2	382	0.0052	363	c.77 others(372): Show c.771_*772insAAAAAATGAGACCGGGTTGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGG TCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAA	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding		370		chr19	TogoVar
RERE_chr1_8347404_8822640	8441930	T T	TCAATACA others(356): Show TCAATACACACACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTG GGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGACTACAGGCGTGAG CCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0195 a0001c0001t0038g0195	1	204	0.0049	363	c.120 others(384): Show c.1204-19124_1204-19123insGCCGGGCGCGGTGGCTCACGCCTG TAGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAGTGTGTGTATTG	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	11/22			chr1	TogoVar
RHOBTB1_chr10_60864438_60949185	60927999	T T	TAAAAATG others(356): Show TAAAAATGGCAAAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	1	316	0.0032	363	c.-11 others(382): Show c.-11+13804_-11+13805insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCCCTTTGCCATTTTT	RHOBTB1	ENSG00000072422.17	transcript	ENST00000337910.10	protein_coding	2/10			chr10	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(356): Show GGAGGAGGAGGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGAGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGGAGGAGGAGGG AGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGAAG GGGGAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAG GAAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGG AGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAAG AAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG01099.hp1 others(15): Show HG00438.hp1 HG00597.hp1 HG01099.hp1 HG02071.hp2 HG02129.hp2 HG02572.hp2 HG02622.hp2 HG02886.hp2 HG03098.hp2 HG03540.hp2 NA18943.hp2 NA18950.hp1 NA18970.hp1 NA18985.hp2 NA18994.hp2 NA19054.hp2 NA19088.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0238 a0001c0001t0001g0245 others(14): Show a0001c0001t0001g0016 a0001c0001t0001g0238 a0001c0001t0001g0245 a0001c0001t0001g0253 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0268 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0315 a0001c0001t0001g0316	18	396	0.0455	363	c.807 others(380): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTT CCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCC TCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCT CCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCC TCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCC TCCCCCTCCCTCCCCCTCCCTCCTCCCTCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
SARDH_chr9_133658560_133743352	133668608	C C	CTCTCTCC others(356): Show CTCTCTCCTTCCCTCTCCTTACCCTCCCTGCTCCCTCACCTTCCTCTCCC TCACCTTCCCTCCCTCACCCTCCATCTCCCTCACCCTCCCTCTCCCCTTA CCCTCCCTCTCCCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACC TTCCCTCTCCCTTACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCC TCCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCCTC CCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCC CTCTCCCCTCATCCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCC CTTACCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0135 a0003c0003t0003g0135	1	262	0.0038	363	c.249 others(382): Show c.2496-1739_2496-1738insAGAGGGAGGGTAAGGGGAGAGGGAGG GTGAGGGAGAGGGAGGGTGAGGGAGGATGAGGGGAGAGGGAGGGTGAGGG AGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGA GAGGGAGGGTAAGGGAGAGGGAAGGAGAGAGAGAGGGAGGGTGAGGGGAG AGGGAGGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGTGAGGGAGAG GGAGGGTAAGGGAGAGGGAAGGAGAGGGAGAGGGAGGGTAAGGGGAGAGG GAGGGTGAGGGAGATGGAGGGTGAGGGAGGGAAGGTGAGGGAGAGGAAGG TGAGGGAGCAGGGAGGGTAAGGAGAGGGAAGGAGAGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SLC12A7_chr5_1045384_1117063	1082000	G G	GGGCTTCC others(356): Show GGGCTTCCCGTCTCGGGTTCTGGAAAGTCCAGGCTTCCCGTCTCGGGTTC TGGAAAGCCTGGGCTTCCCATCTTGGGTTCTGGAAAGCCTGGGCTTCCTC TCTAGGGTTCTGGAAAGTCCGGGCTTCCCCGTCTCGGGTTCTGGGGAAGT CCGGGCTTCCCGTCTCAGGTTCTGGAAAGTCCGGGCTTCCCGTCTCGGGT TCTGGAAAGTCCGGGCTTCCTCTCTAGGGTTCTGGAAAGCCTGGGCTTCC TCTCTAGGGTTCTGGAAAGTCCGGGCTTCCCCGTCTCGGGTTCTGGAAAG CCTGGGCTTCCTCTCTAGGGTTCTGGAAAGTCCGGGCTTCCCGTCTCGGG TTCTGGAAAGTCCA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0004 a0002c0026t0004	a0002c0026t0004g0086 a0002c0026t0004g0086	1	118	0.0085	363	c.113 others(380): Show c.1130-619_1130-257dupTGGACTTTCCAGAACCCGAGACGGGAAG CCCGGACTTTCCAGAACCCTAGAGAGGAAGCCCAGGCTTTCCAGAACCCG AGACGGGGAAGCCCGGACTTTCCAGAACCCTAGAGAGGAAGCCCAGGCTT TCCAGAACCCTAGAGAGGAAGCCCGGACTTTCCAGAACCCGAGACGGGAA GCCCGGACTTTCCAGAACCTGAGACGGGAAGCCCGGACTTCCCCAGAACC CGAGACGGGGAAGCCCGGACTTTCCAGAACCCTAGAGAGGAAGCCCAGGC TTTCCAGAACCCAAGATGGGAAGCCCAGGCTTTCCAGAACCCGAGACGGG AAGCCTGGACTTTCCAGAACCCGAGACGGGAAGCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	8/23			chr5	TogoVar
SLC17A5_chr6_73588379_73658992	73632008	T T	TAAGAATG others(356): Show TAAGAATGCAGTCTGGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA AAAATTAGCCGGGCGCGGTGGCGGGCGCTTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00673.hp1 HG03669.hp2 HG00642.hp1 HG00673.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0047 a0001c0001t0004g0053 a0001c0001t0004g0055 a0001c0001t0004g0047 a0001c0001t0004g0053 a0001c0001t0004g0055	3	324	0.0093	363	c.819 others(380): Show c.819+3373_819+3374insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAAGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCAACCAGACTGCATTCTT	SLC17A5	ENSG00000119899.13	transcript	ENST00000355773.6	protein_coding	6/10			chr6	TogoVar
SLC35F1_chr6_117902264_118322671	118071064	G G	GTATATAT others(356): Show GTATATATATACACATAGTATATATATTCTACGTGTATATATATACACAT AGTATATATATTCTACGTGTATATATATACACATAGTATATATATTCTAC GTATATATATACACATAGTATATATATTCTACGTGTGTGTATATATATAC ACATAGTATATATATTCTACGTGTGTGTATATATATACACATAGTATATA TATTCTACGTGTATGTATACACATATATACATAGAATATATATACTATGT GTATATATATACGTAGAATATATATACTATGTGTATATATACGTAGAATA TATATACTATGTGTGTATATATACGTAGAATATATATACTATGTGTATAT ATATACACGTAGAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03471.hp1 HG02922.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0017 a0001c0001t0004 a0001c0001t0017	a0001c0001t0004g0171 a0001c0001t0017g0172 a0001c0001t0004g0171 a0001c0001t0017g0172	2	182	0.0110	363	c.174 others(382): Show c.174-83373_174-83372insTACACATAGTATATATATTCTACGTG TATATATATACACATAGTATATATATTCTACGTGTATATATATACACATA GTATATATATTCTACGTATATATATACACATAGTATATATATTCTACGTG TGTGTATATATATACACATAGTATATATATTCTACGTGTGTGTATATATA TACACATAGTATATATATTCTACGTGTATGTATACACATATATACATAGA ATATATATACTATGTGTATATATATACGTAGAATATATATACTATGTGTA TATATACGTAGAATATATATACTATGTGTGTATATATACGTAGAATATAT ATACTATGTGTATATATATACACGTAGAATATATATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC66A2_chr18_79897420_79956653	79916193	C C	CGGTGCTC others(356): Show CGGTGCTCCCGTACCCATGGTGCTCTCATAGCCGCAGTGCTCCCGTACCC TCCCATACCCACGGTGCTCCCGTACCCATGGCGCTCCCATACCCACAGCG CTCCCGTACCCACGGTGCTCTCATAGCCGCAGTGCTCCCGTACCCTCCCA TACCCACGGTGCTCCCGTACCCATGGCGCTCCCATACCCACAGCGCTCCC GTACCCACGGTGCTCTCATAGCCGCAGTGCTCCCGTACCCTCCCATACCC ACGGTGCTCCCGTACCCATGGCGCTCCCATACCCACAGCGCTCCCGTACC CACGGTGCTCTCATACCCGCAGTGCTCCCGTACCCTCCCATACCCACGGT GCTCCCGTACCCAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0280 a0001c0001t0007g0280	1	352	0.0028	363	c.608 others(380): Show c.608+2990_608+2991insATGGGTACGGGAGCACCGTGGGTATGGG AGGGTACGGGAGCACTGCGGGTATGAGAGCACCGTGGGTACGGGAGCGCT GTGGGTATGGGAGCGCCATGGGTACGGGAGCACCGTGGGTATGGGAGGGT ACGGGAGCACTGCGGCTATGAGAGCACCGTGGGTACGGGAGCGCTGTGGG TATGGGAGCGCCATGGGTACGGGAGCACCGTGGGTATGGGAGGGTACGGG AGCACTGCGGCTATGAGAGCACCGTGGGTACGGGAGCGCTGTGGGTATGG GAGCGCCATGGGTACGGGAGCACCGTGGGTATGGGAGGGTACGGGAGCAC TGCGGCTATGAGAGCACCATGGGTACGGGAGCACC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	5/5			chr18	TogoVar
SMOC2_chr6_168436184_168672992	168593598	C C	CGAGCATG others(356): Show CGAGCATGTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGGCCTC ACGAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGG CCTCACGAGGGGCATCTTTCTAGAGGATGGCCGAGCCCCTCCTCCTTCCT GAGGCCTCACGAGCATCTTTCTAGAGGATCGCGGAGCTCCTCCTCCTTCC TGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTA AGGCCTCACAAGGGGCATCTTTCTAGAGGATCGCTGAGCTCCTCCTCCTT CCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCACCTCCTTCC TAAGGCCTCACAAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03516.hp2 HG02976.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0114 a0001c0001t0001g0077 a0001c0001t0001g0114	2	180	0.0111	363	c.638 others(380): Show c.638-5219_638-5218insAGCATGTTTCTAGAGGATCGCCGAGCTC CTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGAGGATCTCCGA GCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGAGGATGG CCGAGCCCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGGATC GCGGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGAT GGCCGAGCTCCTCCTTCCTAAGGCCTCACAAGGGGCATCTTTCTAGAGGA TCGCTGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGG ATGGCCGAGCACCTCCTTCCTAAGGCCTCACAAGG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168593751	C C	CGAGCATG others(356): Show CGAGCATGTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGGCCTC ACGAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGG CCTCACGAGGGGCATCTTTCTAGAGGATGGCCGAGCCCCTCCTCCTTCCT GAGGCCTCACGAGCATCTTTCTAGAGGATCGCGGAGCTCCTCCTCCTTCC TGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTA AGGCCTCACAAGGGGCATCTTTCTAGAGGATCGCTGAGCTCCTCCTCCTT CCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCACCTCCTTCC TAAGGCCTCACAAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0036 a0001c0002t0002g0036	1	180	0.0056	363	c.638 others(380): Show c.638-5066_638-5065insAGCATGTTTCTAGAGGATCGCCGAGCTC CTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGAGGATCTCCGA GCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGAGGATGG CCGAGCCCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGGATC GCGGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGAT GGCCGAGCTCCTCCTTCCTAAGGCCTCACAAGGGGCATCTTTCTAGAGGA TCGCTGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGG ATGGCCGAGCACCTCCTTCCTAAGGCCTCACAAGG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168594026	G G	GGCCGAGC others(356): Show GGCCGAGCTCCTCCTTCCTAAGGCCTCACAAGGGGCATCTTTCTAGAGGA TCGCTGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGG ATGGCCGAGCACCTCCTTCCTAAGGCCTCACAAGGGGCATCTTTCTAGAG GATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGA GGATCGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTC TAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTT CTAGAGGATCGCCGAGCTCCTCCTCCTCCTTCCTAAGGCCTCACGGGCAT CTTTCTAGAGGATC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03209.hp1 NA18522.hp1 HG01884.hp2 HG03209.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0002 a0001c0002t0014 a0001c0001t0006 a0001c0002t0002 a0001c0002t0014	a0001c0001t0006g0128 a0001c0002t0002g0004 a0001c0002t0014g0005 a0001c0001t0006g0128 a0001c0002t0002g0004 a0001c0002t0014g0005	3	180	0.0167	363	c.638 others(380): Show c.638-4778_638-4777insTCCTAAGGCCTCACAAGGGGCATCTTTC TAGAGGATCGCTGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTT CTAGAGGATGGCCGAGCACCTCCTTCCTAAGGCCTCACAAGGGGCATCTT TCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCT TTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGC ATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGG CATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTCCTTCCTAAGGCCTCA CGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG2_chr2_945849_1372613	1168021	A A	AGCCGCCC others(356): Show AGCCGCCCACAGACGGCAGAACTGAAGCCTACAAGCCGCCCACAGACGGC AGAACTGAAACCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTAGAA GCCGCCCACAGACGGCAGAACTGAAACCTACAGGCCGCCCACAGACGGCA GAACTGAAGCCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTACAGG CCGCCCACAGACGGCAGAACTGAAACCTACAGGCCGCCCACAGACGGCAG AACTGAAGCCTAGAAGCCGCCCACAGACGGCAGAACTGAAACCTACAGGC CGCCCACAGACGGCAGAACTGAAGCCTACAAGCCGCCCACAGACGGCAGA ACTGAAGCCTACAG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0019 a0019	a0019c0030 a0019c0030	a0019c0030t0001 a0019c0030t0001	a0019c0030t0001g0160 a0019c0030t0001g0160	1	190	0.0053	363	c.499 others(380): Show c.499+2411_499+2412insGCCTACAAGCCGCCCACAGACGGCAGAA CTGAAACCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTAGAAGCCG CCCACAGACGGCAGAACTGAAACCTACAGGCCGCCCACAGACGGCAGAAC TGAAGCCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTACAGGCCGC CCACAGACGGCAGAACTGAAACCTACAGGCCGCCCACAGACGGCAGAACT GAAGCCTAGAAGCCGCCCACAGACGGCAGAACTGAAACCTACAGGCCGCC CACAGACGGCAGAACTGAAGCCTACAAGCCGCCCACAGACGGCAGAACTG AAGCCTACAGGCCGCCCACAGACGGCAGAACTGAA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1168186	A A	AGCCGCCC others(356): Show AGCCGCCCACAGACGGCAGAACTGAAGCCTACAGGCCGCCCACAGACGGC AGAACTGAAGCCTACAGGCCGCCCACAGACGGCAGAACTGAAACCTACAG GCCGCCCACAGACGGCAGAACTGAAGCCTAGAAGCCGCCCACAGACGGCA GAACTGAAACCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTACAGG CCGCCCACAGACGGCAGAACTGAAGCCTACAGGCCGCCCACAGACGGCAG AACTGAAGCCTACAGGCCGCCCACAGACGGCAGAACTGAAACCTACAGGC CGCCCACAGACGGCAGAACTGAAGCCTACAGGCCGCCCACAGACGGCAGA ACTGAAACCTACAG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0106 a0003c0008t0001g0106	1	190	0.0053	363	c.499 others(380): Show c.499+2553_499+2554insCGCCCACAGACGGCAGAACTGAAGCCTA CAGGCCGCCCACAGACGGCAGAACTGAAGCCTACAGGCCGCCCACAGACG GCAGAACTGAAACCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTAG AAGCCGCCCACAGACGGCAGAACTGAAACCTACAGGCCGCCCACAGACGG CAGAACTGAAGCCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTACA GGCCGCCCACAGACGGCAGAACTGAAGCCTACAGGCCGCCCACAGACGGC AGAACTGAAACCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTACAG GCCGCCCACAGACGGCAGAACTGAAACCTACAGGC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
STMN3_chr20_63634712_63658424	63642015	C C	CCCCCGCC others(356): Show CCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCG GCCCCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCCGCCCAGTGCCC CGCCCCCTGCCTGCTGCTAGCCCTGCCCCCGCCCGCTCCGAGCTCCGCCC TGGCCCCGCCCCCGCCCAGTGCCCCGCCCCCTGCCTGCTGCTAGCCCTGC CCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCCG CCCAGTGCCCCGCCCCCTGCCTGCTGCTTGCCCTGCCCCCTCCCCGGCCC CTGCCCGCTCCGAGCTCCGCCCCGGCCCCGCCCCGGCCCCTGCCCGCTCC GAGCTTCGCCCCGG	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	388	0.0026	363	c.483 others(376): Show c.483+92_483+93insCCGGGGCGAAGCTCGGAGCGGGCAGGGGCCGG GGCGGGGCCGGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGAGGGGGCAG GGCAAGCAGCAGGCAGGGGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGC GGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGGCAGGGCTAGCAGCAGGC AGGGGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGCGGAGCTCGGAGCGG GCGGGGGCAGGGCTAGCAGCAGGCAGGGGGCGGGGCACTGGGCGGGGGCG GGGCCAGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGCCAGGGCG GAGCTCGGAGCGGGCAGGGGCCGGGGCGGGG	STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding	4/4			chr20	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(356): Show GATTATAAAATATAATCATATATTATATATGATTATAAAATATAATCATA TATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAA TATAATTATATATATTATATATGATTATAAAATATAATTATATATTATAT ATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTA TATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATA TGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGAT TATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATA AAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0041 a0001c0002t0002g0041	1	268	0.0037	363	c.75 others(374): Show c.7501_*7502insATTATAAAATATAATCATATATTATATATGATTA TAAAATATAATCATATATTATATATGATTATAAAATATAATTATATATTA TATATGATTATAAAATATAATTATATATATTATATATGATTATAAAATAT AATTATATATTATATATGATTATAAAATATAATTATATATTATATATGAT TATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATA AAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAAT ATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(356): Show GATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTATA TATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAA TATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATA ATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTA TATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATA TGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGAT TATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATA AAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG02735.hp1 HG01175.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0246 a0001c0001t0012g0262 a0001c0001t0001g0246 a0001c0001t0012g0262	2	268	0.0075	363	c.75 others(374): Show c.7501_*7502insATTATAAAATATAATTATATATTATATATGATTA TAAAATATAATTATATATTATATATGATTATAAAATATAATTATATATTA TATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATA TGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGAT TATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATA AAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAAT ATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
TAF5L_chr1_229588134_229631122	229628163	T T	TTATACAT others(356): Show TTATACATATACATATTATATATGTATATATATTATACATATACATATTA TATATGTATATATATTATACATATACATATTATATATGTATATATATTAT ACATATACATATTATATATGTATATATATTATACATATACATATTATATA TGTATATATATTATACATATACATATTATATATGTATATATATTATACAT ATACATATTATATATGTATATATATTATACATATACATATTATATATGTA TATATATTATACATATACATATTATATATGTATATATATTATACATATAC ATATTATATATGTATATATATTATACATATACATATTATATATGTATATA TATTATACATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	376	0.0027	363	c.-22 others(374): Show c.-2283_-2282insGTATATGTATAATATATATACATATATAATATGT ATATGTATAATATATATACATATATAATATGTATATGTATAATATATATA CATATATAATATGTATATGTATAATATATATACATATATAATATGTATAT GTATAATATATATACATATATAATATGTATATGTATAATATATATACATA TATAATATGTATATGTATAATATATATACATATATAATATGTATATGTAT AATATATATACATATATAATATGTATATGTATAATATATATACATATATA ATATGTATATGTATAATATATATACATATATAATATGTATATGTATAATA TATATACATATATAATATGTATATGTATA	TAF5L	ENSG00000135801.11	transcript	ENST00000258281.7	protein_coding		2042		chr1	TogoVar
TAFA5_chr22_48484553_48756932	48507102	G G	GGAGAAGG others(356): Show GGAGAAGGAGGTGGCCGCCAAGGGCCAGGTGTGCAGTAGGAAGAGAAGGA GGTGGCCGCAAAGGGCCAGGTGTGCAGTAGGAAGAGAAGGAGGTGGCCGC AAAGGGCCAGGTGTGTAGTTGGAGAAGGAGACGGCCGCCAAGGGCCAGGT GTGCAGTTGGAGGAGAAGGAGACAGTCATCAAGGGCCAGGTGTGCAGTTG GAGGAGAAGGAGACAGTCATCAAGGGCCAGGTGTGCAGTTGGAGGAGAAG GAGACAGTCATCAAGGGCCAGGTGTGCAGTTGGAGAAGGAGATGGTCATC AAGGGCCAGGTATGCAGTTGGAGGAGAAGGAGGTGGCCGCCAAGGGCCAG GTGTGCAGTAGGAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	258	0.0039	363	c.112 others(382): Show c.112+17471_112+17472insCAGTAGGAAGAGAAGGAGGTGGCCGC AAAGGGCCAGGTGTGTAGTTGGAGAAGGAGACGGCCGCCAAGGGCCAGGT GTGCAGTTGGAGGAGAAGGAGACAGTCATCAAGGGCCAGGTGTGCAGTTG GAGGAGAAGGAGACAGTCATCAAGGGCCAGGTGTGCAGTTGGAGGAGAAG GAGACAGTCATCAAGGGCCAGGTGTGCAGTTGGAGAAGGAGATGGTCATC AAGGGCCAGGTATGCAGTTGGAGGAGAAGGAGGTGGCCGCCAAGGGCCAG GTGTGCAGTAGGAAGAGAAGGAGGTGGCCGCCAAGGGCCAGGTGTGCAGT AGGAAGAGAAGGAGGTGGCCGCAAAGGGCCAGGTGTG	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF3_chr19_1604292_1657615	1628734	A A	ACGGGGGT others(356): Show ACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGTGGG AAGGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCT CACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGA AGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTC ACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCA CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAG GGGACAGCAGAACT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0180 a0001c0002t0001g0180	1	352	0.0028	363	c.299 others(380): Show c.299-1309_299-1308insAGTTCTGCTGTCCCCTTCCCGCCTCACC CCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTC CCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCC CGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGTCC CCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCC GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCC CTTCCCACCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCACCTCACCCCC GTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TENM4_chr11_78647829_79446030	79138835	C C	CCTTATAT others(356): Show CCTTATATTTATATAAATATATAAAATATATATTATATTTCTATAAATAT ATATTACATTTCCATAAATATATAAAATATATATTATATTTCTATAAATA TATAAAATATATATTATATTTATATAAATATATATTATATTTCTATAAAT ATATAAAATATATATTATATTTCTATAAATATATATTATATTTCTATAAA TATATAAAATATATATTATATTTCTATAAATATATAAAATATATATTACA TTTCTATAAATATATAAAATATATATTATATTTCTATAAATATATAAAAT ATATATTATATTTCTATAAATATATAAAATATATATTATATTTCTATAAA TATATAAAATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0021 a0008c0016t0021	a0008c0016t0021g0006 a0008c0016t0021g0006	1	94	0.0106	363	c.-66 others(380): Show c.-66+9874_-66+9875insATATATTTTATATATTTATAGAAATATA ATATATATTTTATATATTTATAGAAATATAATATATATTTTATATATTTA TAGAAATATAATATATATTTTATATATTTATAGAAATGTAATATATATTT TATATATTTATAGAAATATAATATATATTTTATATATTTATAGAAATATA ATATATATTTATAGAAATATAATATATATTTTATATATTTATAGAAATAT AATATATATTTATATAAATATAATATATATTTTATATATTTATAGAAATA TAATATATATTTTATATATTTATGGAAATGTAATATATATTTATAGAAAT ATAATATATATTTTATATATTTATATAAATATAAG	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TFDP1_chr13_113579753_113646473	113625285	G G	GTGTCCTC others(356): Show GTGTCCTCAGGTGTTTCTCAGGTGTCTTTCACGTGTCCTCAGGTGTCTCT CACTTGTCCTCAGGCGTCTCTCACGCGTCCTCAGGCGTCTCTCACGCGTC CTCAGGCGTCTCTCACGTGTCCTCAGGTGTCTCTCACGTGTCCTCAGGTG TTTCTCAGGTGTCTCTCCCGTGTCCTCAGGTGTCTCTCACGTGTCCTCAG GTGTCTCTCAGGTGTCTCTCACGTGTCTTCAGGTGTCTCTCACGTGACCT CAGGTGTCTCACGTGTCCTCAGGTGTCTCACGTGTCCTCAGGTGTCTCAC GTGTCCTCAGGTGTCTCTCACGTGTCCTCAGGTGTCTCTCACGCATCCTC AGGTGTCTCTCACA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	348	0.0029	363	c.186 others(380): Show c.186+2012_186+2013insTTCTCAGGTGTCTTTCACGTGTCCTCAG GTGTCTCTCACTTGTCCTCAGGCGTCTCTCACGCGTCCTCAGGCGTCTCT CACGCGTCCTCAGGCGTCTCTCACGTGTCCTCAGGTGTCTCTCACGTGTC CTCAGGTGTTTCTCAGGTGTCTCTCCCGTGTCCTCAGGTGTCTCTCACGT GTCCTCAGGTGTCTCTCAGGTGTCTCTCACGTGTCTTCAGGTGTCTCTCA CGTGACCTCAGGTGTCTCACGTGTCCTCAGGTGTCTCACGTGTCCTCAGG TGTCTCACGTGTCCTCAGGTGTCTCTCACGTGTCCTCAGGTGTCTCTCAC GCATCCTCAGGTGTCTCTCACATGTCCTCAGGTGT	TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
TFDP1_chr13_113579753_113646473	113625285	G G	GTGTCCTC others(356): Show GTGTCCTCAGGTGTTTCTCAGGTGTCTTTCACGTGTCCTCAGGTGTCTCT CACTTGTCCTCAGGCGTCTCTCACGCGTCCTCAGGCGTCTCTCACGCGTC CTCAGGCGTCTCTCACGTGTCCTCAGGTGTCTCTCACGTGTCCTCAGGTG TTTCTCAGGTGTCTCTCCCGTGTCCTCAGGTGTCTCTCACGTGTCCTCAG GTGTTTCTCAGGTGTCTCTCACGTGTCTTCAGGTGTCTCTCACGTGACCT CAGGTGTCTCACGTGTCCTCAGGTGTCTCACGTGTCCTCAGGTGTCTCAC GTGTCCTCAGGTGTCTCTCACGTGTCCTCAGGTGTCTCTCACGCATCCTC AGGTGTCTCTCACA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	348	0.0029	363	c.186 others(380): Show c.186+2012_186+2013insTTCTCAGGTGTCTTTCACGTGTCCTCAG GTGTCTCTCACTTGTCCTCAGGCGTCTCTCACGCGTCCTCAGGCGTCTCT CACGCGTCCTCAGGCGTCTCTCACGTGTCCTCAGGTGTCTCTCACGTGTC CTCAGGTGTTTCTCAGGTGTCTCTCCCGTGTCCTCAGGTGTCTCTCACGT GTCCTCAGGTGTTTCTCAGGTGTCTCTCACGTGTCTTCAGGTGTCTCTCA CGTGACCTCAGGTGTCTCACGTGTCCTCAGGTGTCTCACGTGTCCTCAGG TGTCTCACGTGTCCTCAGGTGTCTCTCACGTGTCCTCAGGTGTCTCTCAC GCATCCTCAGGTGTCTCTCACATGTCCTCAGGTGT	TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
TFDP1_chr13_113579753_113646473	113625286	T T	TGTCCTCA others(356): Show TGTCCTCAGGTGTTTCTCAGGTGTCTTTCACGTGTCCTCAGGTGTCTCTC ACTTGTCCTCAGGCGTCTCTCACGCGTCCTCAGGCGTCTCTCACGCGTCC TCAGGCGTCTCTCACGTGTCCTCAGGCGTCTCTCACGTGTCCTCAGGTGT CTCTCACGTGTCCTCAGGTGTTTCTCAGGTGTCTCTCCCGTGTCCTCAGG TGTCTCTCACGTGTCCTCAGGTGTTTCTCAGGTGTCTCTCACGTGTCTTC AGGTGTCTCTCACGTGTCTTCAGGTGTCTCACGTGACCTCAGGTGTCTCA CGTGTCCTCAGGTGTCTCACGTGTCCTCAGGTGTCTCTCACGTGTCCTCA GGTGTCTCTCACGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp2 HG01069.hp2 others(4): Show HG00099.hp2 HG00741.hp2 HG01069.hp2 HG01256.hp1 HG01258.hp1 HG03927.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0003 a0001c0001t0001g0207 a0001c0001t0001g0208	7	348	0.0201	363	c.186 others(380): Show c.186+2012_186+2013insTTCTCAGGTGTCTTTCACGTGTCCTCAG GTGTCTCTCACTTGTCCTCAGGCGTCTCTCACGCGTCCTCAGGCGTCTCT CACGCGTCCTCAGGCGTCTCTCACGTGTCCTCAGGCGTCTCTCACGTGTC CTCAGGTGTCTCTCACGTGTCCTCAGGTGTTTCTCAGGTGTCTCTCCCGT GTCCTCAGGTGTCTCTCACGTGTCCTCAGGTGTTTCTCAGGTGTCTCTCA CGTGTCTTCAGGTGTCTCTCACGTGTCTTCAGGTGTCTCACGTGACCTCA GGTGTCTCACGTGTCCTCAGGTGTCTCACGTGTCCTCAGGTGTCTCTCAC GTGTCCTCAGGTGTCTCTCACGCGTCCTCAGGTGT	TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
TFDP1_chr13_113579753_113646473	113625287	G G	GTCCTCAG others(356): Show GTCCTCAGGTGTTTCTCAGGTGTCTTTCACGTGTCCTCAGGTGTCTCTCA CTTGTCCTCAGGCGTCTCTCACGCGTCCTCAGGCGTCTCTCACGCGTCCT CAGGCGTCTCTCACGCGTCCTCAGGCGTCTCTCACGTGTCCTCAGGTGTC TCTCACGTGTCCTCAGGTGTTTCTCAGGTGTCTCTCCCGTGTCCTCAGGT GTCTCTCACGTGTCCTCAGGTGTTTCTCAGGTGTCTCTCACGTGTCTTCA GGTGTCTCTCACGTGACCTCAGGTGTCTCACGTGTCCTCAGGTGTCTCAC GTGTCCTCAGGTGTCTCACGTGTCCTCAGGTGTCTCTCACGTGTCCTCAG GTGTCTCTCACGCA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	348	0.0029	363	c.186 others(380): Show c.186+2012_186+2013insTTCTCAGGTGTCTTTCACGTGTCCTCAG GTGTCTCTCACTTGTCCTCAGGCGTCTCTCACGCGTCCTCAGGCGTCTCT CACGCGTCCTCAGGCGTCTCTCACGCGTCCTCAGGCGTCTCTCACGTGTC CTCAGGTGTCTCTCACGTGTCCTCAGGTGTTTCTCAGGTGTCTCTCCCGT GTCCTCAGGTGTCTCTCACGTGTCCTCAGGTGTTTCTCAGGTGTCTCTCA CGTGTCTTCAGGTGTCTCTCACGTGACCTCAGGTGTCTCACGTGTCCTCA GGTGTCTCACGTGTCCTCAGGTGTCTCACGTGTCCTCAGGTGTCTCTCAC GTGTCCTCAGGTGTCTCTCACGCATCCTCAGGTGT	TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
THBS3_chr1_155190588_155212897	155190951	G G	GTGTCCGG others(356): Show GTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGG GGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGG TGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCT GGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGGCCGAGGTG ACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGG GGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCC TGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCC GGGGCCGGCCTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	298	0.0034	363	c.48 others(374): Show c.4889_*4890insAGCAGGCCGGCCCCGGGCTCCACCGCGCCCGCAG CCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCACC GCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCC GGGCTCCACCGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCCGGAGAGC AGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGG CCCCGGACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGT GTCACCTCGGCCCCGGACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCC AGCCCACGGTGTCACCTCGGCCCCGGACA	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4636		chr1	TogoVar
THBS3_chr1_155190588_155212897	155191039	T T	TGGGGGGG others(356): Show TGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTG ACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGG GGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCC TGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCC GGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGC GGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGG CTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGT GACACCGTGGGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	298	0.0034	363	c.48 others(374): Show c.4801_*4802insCAGCCCACGGTGTCACCTCGGCCCCGGACACCAG GCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCC CCGGAGAGCAGGCCGGCCCCGGGCTCCACCGCGCCCGCAGCCCACGGTGT CACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCACCGCGCCCGCAG CCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCACC GCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCC GGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGGACACCA GGCCGGCCCCGGGCTCCACCGCCCCCCCC	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4548		chr1	TogoVar
THEG_chr19_356747_381026	376741	T T	TCTGTGCC others(356): Show TCTGTGCCCCACCCAGCCTCTCCCCCGTGTGCCCCACCCAGCCTCTCCCC CCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTC CCCCTGTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCTGTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCCACCCAGCC TCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCC AGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTGTGTGCCCCAC CCAGCCTCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0003 a0011c0018t0003	a0011c0018t0003g0355 a0011c0018t0003g0355	1	370	0.0027	363	c.-77 others(372): Show c.-772_-771insGGGGGAGAGGCTGGGTGGGGCACACAGGGGGAGAGG CTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGAGGCACGGGGGGGGAG AGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGGGGG GAGAGGCTGGGTGGGGCACACAGGGGGAGAGGCTGGGTGGGGCACAGAGG GGGAGAGGCTGGGTGGGGCACACAGGGGGAGAGGCTGGGTGGGGCACAGG GGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACA GAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCAC ACGGGGGAGAGGCTGGGTGGGGCACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		716		chr19	TogoVar
TMEM178B_chr7_141069064_141485380	141337156	C C	CACCACCA others(356): Show CACCACCACCATCACTACCACCACCACCACCCCCATCACTACCATCATCA TCACCACCACCACCATCACCACCATCACCACCACCACCATCATCACCACC ACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCA CCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAGC ATCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCAT CACCACCACGACCACCACCAGCACCACCACCATCACCACCATCACCACCA CCACCACCATCACT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0013 a0001c0001t0022g0013	1	80	0.0125	363	c.497 others(384): Show c.497-100451_497-100450insCCACCACCATCACTACCACCACCA CCACCCCCATCACTACCATCATCATCACCACCACCACCATCACCACCATC ACCACCACCACCATCATCACCACCACCATCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCAGCATCACCACCATCACCACCACCACCAC CACCACCATCACCACCACCACCATCACCACCACGACCACCACCAGCACCA CCACCATCACCACCATCACCACCACCACCACCATCACTA	TMEM178B	ENSG00000261115.7	transcript	ENST00000565468.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
TRAPPC12_chr2_3374694_3484565	3437896	T T	TCCCCCCA others(356): Show TCCCCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATCCC CCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCCACC ACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCC CAGGATTAATACCCCATCACCCCAGGATTAATACCCCATCACCCCTGGAT TAATCCCCCCATCACCCCTGGTTTAATCCCCCAATCACCCCTGGATTAAT CCCCCCATCACCCCAGGATTAATACCCCATCACCCCAGGATTAATACCCC ATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTAATCCCCCAATCA CCCCTGGATTAATC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0290 a0001c0003t0001g0290	1	344	0.0029	363	c.141 others(382): Show c.1418-5883_1418-5882insCCCCCCATCACCCCTGGATTAATCCC CCCATCACCCCTGGATTAATCCCCCATCACCCCTGGATTAATACCCCATC ACCCCTGGATTAATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCC CTGGATTAATCCCCCCATCACCCCAGGATTAATACCCCATCACCCCAGGA TTAATACCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGGTTTAAT CCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATACCC CATCACCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCACCA CCCCTGGATTAATCCCCCAATCACCCCTGGATTAATC	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11			chr2	TogoVar
TRIML1_chr4_188134441_188152743	188151832	T T	TGAGAAGG others(356): Show TGAGAAGGGGATGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGT GAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGCTGA GAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGTTGAGA AGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAG AGGAATGAGAGTGGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGG GGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGCTGAGAAGGGG AGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGGTTGAGAAGGGG ATTGAGAGAGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0157 a0002c0002t0002g0157	1	228	0.0044	363	c.44 others(374): Show c.4460_*4461insGAGAAGGGGATGTGAGAGTGGGGGTGAGAAGGGG AGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAG TGAGAGTGGGGCTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTG AGAGTGGGGTTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAG AGTGGGGGTGAGAAGAGGAATGAGAGTGGGGGGTGAGAAGGGGAGTGAGA GTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGT GGGGCTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGG GGGGTTGAGAAGGGGATTGAGAGAGAGGG	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4090		chr4	TogoVar
TRIML1_chr4_188134441_188152743	188152035	A A	AGTGAGAG others(356): Show AGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGGCTGAGAAGGGGAG TGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGAAGTG AGTGTGGGGGTTGAGAAGGGGAGGGAGAGAGAGGGTGAGAAGGGGAGTGA GTGGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAG TGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGCAGTGAGAGTG GGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGAAGTGAGAGTGGG GGTTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGG GTGAGAAGGGGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0060 a0001c0004t0001g0060	1	228	0.0044	363	c.46 others(374): Show c.4663_*4664insGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGG GGCTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGG GTGAGAAGGGAAGTGAGTGTGGGGGTTGAGAAGGGGAGGGAGAGAGAGGG TGAGAAGGGGAGTGAGTGGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGA GAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGA AGGGCAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAG GGAAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGG GGAGTGAGAGTGGGGGTGAGAAGGGGAGT	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4293		chr4	TogoVar
TWIST2_chr2_238843085_238915534	238870316	C C	CACCACAC others(356): Show CACCACACACACACATCACATACCACACACCCGACACACGCCACACACAC ACCATACACCCCCCACACACCACACCCCACACACCATACACACCACACAC CCCACACACACCACACACCCCACACACACCACACCCCATACACACCACAC CCCACACACACCACACACCCCACACACACCACACACCCCACACACACCAC ACAAACCACACACCCCACACACACCACACACACCACACACCCCACACACA CCACACCCCATACACACCACACCCCACACACACCACACACCCCACACACA CCACACACACCACACCCCACACACACCACACACACCACAGCCCACACACC CCACACACACCACA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	338	0.0030	363	c.35 others(382): Show c.35+21583_*35+21584insACCACACACACACATCACATACCACA CACCCGACACACGCCACACACACACCATACACCCCCCACACACCACACCC CACACACCATACACACCACACACCCCACACACACCACACACCCCACACAC ACCACACCCCATACACACCACACCCCACACACACCACACACCCCACACAC ACCACACACCCCACACACACCACACAAACCACACACCCCACACACACCAC ACACACCACACACCCCACACACACCACACCCCATACACACCACACCCCAC ACACACCACACACCCCACACACACCACACACACCACACCCCACACACACC ACACACACCACAGCCCACACACCCCACACACACCACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
ULK1_chr12_131889622_131928150	131917104	C C	CGGGTGGG others(356): Show CGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGC TGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTTGGCTCGGAGGCTGTG GGATGGGGGTCGGGATGGGGCTCGAGGCTGTGGGACGGGGGTCGGGTGGG GCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGAC GGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTC GGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGG GTCGGGTGGGGCTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	344	0.0029	363	c.218 others(378): Show c.2182+44_2182+45insGTGGGGCTTGGAGGCTGTGGGACGGGGGTC GGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCT GTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGT TTGGCTCGGAGGCTGTGGGATGGGGGTCGGGATGGGGCTCGAGGCTGTGG GACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGG CTTGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACG GGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCG GAGGCTGTGGGATGGGGGTCGGGTGGGGCTTGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917117	A A	ACGGGGGT others(356): Show ACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGG GGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGG AGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGT CGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGG TGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGACGGGGGTCGGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0085	1	344	0.0029	363	c.218 others(378): Show c.2182+55_2182+56insCGGGGGTCGGGTGGGGCTCGGAGGCTGTGG GACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGG CTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATG GGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCG GAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGG TCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGG CTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGG GTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27			chr12	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGAGGCT others(356): Show CGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGG GGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGA GGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTC GGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCT GTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATG GGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCG GAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGG TCGGGTTCGGCTCG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0259 a0001c0003t0003g0259	1	344	0.0029	363	c.218 others(380): Show c.2182+158_2182+159insGAGGCTGTGGGATGGGGGTCGGGTTCGG CTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATG GGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCG GAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGG TCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGG GGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGA CGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCT CGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
URB2_chr1_229621247_229665200	229628163	T T	TTATACAT others(356): Show TTATACATATACATATTATATATGTATATATATTATACATATACATATTA TATATGTATATATATTATACATATACATATTATATATGTATATATATTAT ACATATACATATTATATATGTATATATATTATACATATACATATTATATA TGTATATATATTATACATATACATATTATATATGTATATATATTATACAT ATACATATTATATATGTATATATATTATACATATACATATTATATATGTA TATATATTATACATATACATATTATATATGTATATATATTATACATATAC ATATTATATATGTATATATATTATACATATACATATTATATATGTATATA TATTATACATATAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0012 a0001c0012t0012	a0001c0012t0012g0118 a0001c0012t0012g0118	1	356	0.0028	363	c.126 others(378): Show c.126+404_126+405insTATACATATACATATTATATATGTATATAT ATTATACATATACATATTATATATGTATATATATTATACATATACATATT ATATATGTATATATATTATACATATACATATTATATATGTATATATATTA TACATATACATATTATATATGTATATATATTATACATATACATATTATAT ATGTATATATATTATACATATACATATTATATATGTATATATATTATACA TATACATATTATATATGTATATATATTATACATATACATATTATATATGT ATATATATTATACATATACATATTATATATGTATATATATTATACATATA CATATTATATATGTATATATATTATACATATAC	URB2	ENSG00000135763.10	transcript	ENST00000258243.7	protein_coding	2/9			chr1	TogoVar
ZNF182_chrX_47969851_48008989	47971480	T T	TGTATACG others(356): Show TGTATACGTATACATATGTATATACACGTGTATACGTATACATATGTATA TACACGTGTATACGTATACATATGTATATACACGTGTATACGTATACATA TGTATATACACGTGTATACGTATACATATGTATATACACGTGTATACGTA TACATATGTATATACACGTGTATACGTATACATATGTATATACACGTGTA TACGTATACATATGTATAGTACACGTGTATACGTATACATATGTATATAC ACGTGTATACGTATACATATGTATATACACGTGTATACGTATACATATGT ATATACACGTGTATACGTATACATATGTATATACACGTGTATACGTATAC ATATGTATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0102 a0001c0001t0004g0102	1	270	0.0037	363	c.46 others(374): Show c.4686_*4687insGTGTATATACATATGTATACGTATACACGTGTAT ATACATATGTATACGTATACACGTGTATATACATATGTATACGTATACAC GTGTATATACATATGTATACGTATACACGTGTATATACATATGTATACGT ATACACGTGTACTATACATATGTATACGTATACACGTGTATATACATATG TATACGTATACACGTGTATATACATATGTATACGTATACACGTGTATATA CATATGTATACGTATACACGTGTATATACATATGTATACGTATACACGTG TATATACATATGTATACGTATACACGTGTATATACATATGTATACGTATA CACGTGTATATACATATGTATACGTATAC	ZNF182	ENSG00000147118.12	transcript	ENST00000376943.8	protein_coding		3370		chrX	TogoVar
ZNF778_chr16_89212703_89242141	89224967	T T	TAAGATGC others(356): Show TAAGATGCATTCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0096 a0001c0001t0004g0096	1	434	0.0023	363	c.328 others(378): Show c.328+179_328+180insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAGATGCATTCTGG	ZNF778	ENSG00000170100.14	transcript	ENST00000433976.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF862_chr7_149833375_149872479	149858875	A A	ATGGGCCA others(356): Show ATGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGG GCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCG TGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGG CAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGT GGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGC AGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTG GGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCA GAGGGGCACACGCG	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0202 a0001c0005t0005g0202	1	412	0.0024	363	c.111 others(380): Show c.1118-515_1118-514insGTGGGCCAGCTGTGGGGGCAGAGGGGCA CACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTG TGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCAC ACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGT GGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACA CGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTG GGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACAC GCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGC	ZNF862	ENSG00000106479.11	transcript	ENST00000223210.5	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF862_chr7_149833375_149872479	149859037	C C	CGCGTGGG others(356): Show CGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTG GGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACAC GCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGG GGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACG CGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGG GGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGC GTGGGCCAGCTGTGGGGGCAGAGGGGCACGTGCGTGGGCCAGCTGTGGGG GCAGAGGGGCACGT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0150 a0001c0001t0005g0150	1	412	0.0024	363	c.111 others(380): Show c.1118-334_1118-333insGGCAGAGGGGCACACGCGTGGGCCAGCT GTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCA CACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTG TGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCAC ACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGT GGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACG TGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACGTGCGTGGGCCAGCTGTG GGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGG	ZNF862	ENSG00000106479.11	transcript	ENST00000223210.5	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF862_chr7_149833375_149872479	149859070	C C	CGCGTGGG others(356): Show CGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTG GGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACAC GCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGG GGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACG CGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGG GGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGC GTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGG GCAGAGGGGCACGT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0060 a0001c0005t0002g0060	1	412	0.0024	363	c.111 others(380): Show c.1118-334_1118-333insGGCAGAGGGGCACACGCGTGGGCCAGCT GTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCA CACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTG TGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCAC ACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGT GGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACA CGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTG GGGGCAGAGGGGCACGTGCGTGGGCCAGCTGTGGG	ZNF862	ENSG00000106479.11	transcript	ENST00000223210.5	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF862_chr7_149833375_149872479	149859070	C C	CGCGTGGG others(356): Show CGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTG GGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACAC GCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGG GGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACG CGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGG GGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGC GTGGGCCAGCTGTGGGGGCAGAGGGGCACGTGCGTGGGCCAGCTGTGGGG GCAGAGGGGCACGT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02071.hp2 HG00408.hp1 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0036 a0001c0001t0005g0036	2	412	0.0049	363	c.111 others(380): Show c.1118-334_1118-333insGGCAGAGGGGCACACGCGTGGGCCAGCT GTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCA CACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTG TGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCAC ACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGT GGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACA CGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACGTGCGTGGGCCAGCTGTG GGGGCAGAGGGGCACGTGCGTGGGCCAGCTGTGGG	ZNF862	ENSG00000106479.11	transcript	ENST00000223210.5	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar

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