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
IFNAR1_chr21_33319970_33364864	33322968	T T	TATATATA others(485): Show TATATATATGGAATATGTATATATGGAATATATATATGGAATGTATATAT ATGGAATATATATATGGAATGTATATATATGGAATATATATATGGAATAT ATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAAT ATATATATGGAATATATATATATGGAATATATATATGGAATATATATATA TGGAATATATATATGGAATATATATATATGGAATATATATATGGAATATA TATATATGGAATATATATATGGAATATATATATATGGAATATATATATGG AATATATATATATGGAATATATATATGGAATATATATATGGAATATATAC ATATGGAATATATTTATGGAATATATACATATGGAATATATTTATGGAAT ATATACATATGGAATATATATATGGAATATATACATATGGAATATATATA TGGAATATATACATGGAATATATATATGGAATATATACATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	318	0.0031	492	c.-20 others(503): Show c.-2088_-2087insATATATATGGAATATGTATATATGGAATATATAT ATGGAATGTATATATATGGAATATATATATGGAATGTATATATATGGAAT ATATATATGGAATATATATATGGAATATATATATGGAATATATATATGGA ATATATATATGGAATATATATATGGAATATATATATATGGAATATATATA TGGAATATATATATATGGAATATATATATGGAATATATATATATGGAATA TATATATGGAATATATATATATGGAATATATATATGGAATATATATATAT GGAATATATATATGGAATATATATATATGGAATATATATATGGAATATAT ATATGGAATATATACATATGGAATATATTTATGGAATATATACATATGGA ATATATTTATGGAATATATACATATGGAATATATATATGGAATATATACA TATGGAATATATATATGGAATATATACATGGAATATATATATGGAATATA TACATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2001		chr21	TogoVar
IPCEF1_chr6_154149496_154361803	154354415	A A	ACCTCCAC others(485): Show ACCTCCACCACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTC CTCCACCACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCT CCACCACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCC ACCACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCCAC CACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCCACCA CCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCCACCACC ACCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCCACCACCAC CTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCCACCACCACCT CCACCATCTCCTCCACCACCACCTCCACCACCACCTCCACCATCTCCTCC ACCACCACCTCCACCATCTCCTCCACAACCACCTCCACCATCT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02055.hp1 HG03516.hp2 HG01074.hp1 HG02055.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0088 a0001c0001t0005g0128 a0001c0001t0005g0154 a0001c0001t0001g0088 a0001c0001t0005g0128 a0001c0001t0005g0154	3	149	0.0201	492	c.-62 others(509): Show c.-62+2256_-62+2257insAGATGGTGGAGGTGGTTGTGGAGGAGAT GGTGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGTGGTGG TGGAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTG GAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGA GGAGATGGTGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGG AGATGGTGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAG ATGGTGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAGAT GGTGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGG TGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGGTG GAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGGTGGA GGTGGTGGTGGAGG	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	1/11			chr6	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406247	G G	GTGTGTGT others(485): Show GTGTGTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTT CAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCA GGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCT CAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTC CTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTA GTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGA CATCTAGTCTTCCTCAGGCCTTCAATGTGTGTGTGTCACTGAGTGGACCT CTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGT GGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCA CTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0152 a0001c0001t0073g0152	1	258	0.0039	492	c.58 others(501): Show c.586_*587insTTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTC CACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACTAGATGTCACA GAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACTAGAT GTCACAGAGGTCCACTCAGTGACACACACACATTGAAGGCCTGAGGAAGA CTAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGA GGAAGACTAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAG GCCTGAGGAAGACTAGATGTCACAGAGGTCCACTCAGTGACACACACTGA AGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACACACACT GAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACA CACACTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCCACTCAGTGA CACACA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	586		chr2	TogoVar
KCNJ6_chr21_37602373_37921457	37707711	T T	TAGTGTGT others(485): Show TAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATGTGTGCAT GTGTATCCATGTGTGTGTATATTTGTGTGTGCATGTGTATGCACGTGCGT GCATGTATGTGTGTGTATACACGTATATGTATTTGTGTGTGCATGTGTAT GCATGTGTGTGCATGTATGGGCATGTGTGTATACCTGTGTGTATGTGTAT TTGTGTTGCATGTGTGTATATGTGTGTGTATTTACATGTGCATGTGTATA CCTGTGTGTACGTGTATTTGTGCGTGTGTATTTACATGTGCACGTGTATG CATGTGTGTATGTGTATGCATGTGTGTATGTGTGTGCATATGTGTATGCA TGTGTGTATGTGTGCATGTGTATATATGTGTCTATGTACTTGTGTGTATG TGTATGCATGTGTGTGTACATGTATGTATACGTGTGTATTTGTGCATGTG TATGCACGTGTGTGTATGTGTGTAGGAGTGTGTGTGTGTGGGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp2 HG02622.hp2 HG02257.hp2 HG02486.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0031 a0001c0001t0179 a0001c0001t0010 a0001c0001t0031 a0001c0001t0179	a0001c0001t0010g0194 a0001c0001t0031g0142 a0001c0001t0179g0139 a0001c0001t0010g0194 a0001c0001t0031g0142 a0001c0001t0179g0139	3	28	0.1071	492	c.946 others(509): Show c.946+6499_946+6500insCCCCACACACACACACTCCTACACACAT ACACACACGTGCATACACATGCACAAATACACACGTATACATACATGTAC ACACACATGCATACACATACACACAAGTACATAGACACATATATACACAT GCACACATACACACATGCATACACATATGCACACACATACACACATGCAT ACACATACACACATGCATACACGTGCACATGTAAATACACACGCACAAAT ACACGTACACACAGGTATACACATGCACATGTAAATACACACACATATAC ACACATGCAACACAAATACACATACACACAGGTATACACACATGCCCATA CATGCACACACATGCATACACATGCACACACAAATACATATACGTGTATA CACACACATACATGCACGCACGTGCATACACATGCACACACAAATATACA CACACATGGATACACATGCACACATATACACACACACACACACACACACA CACACACACACACT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNK2_chr1_215077737_215242090	215209590	T T	TATATAAA others(485): Show TATATAAAATAGATATATATAAAATATATAAAATAGATATTATATATAAA ATATATATAATATATATATAAAATAGATATTATATATAAAATATATATTA TATATTATATAAAATATATATTATATATTATATAATATATAATATATATT ATATATATTATATATTATATATTAAATATATATTATATATATAAAATATA TATAAAATATATATTATATAAAATATATATAAAATATATATTATATAAAA TATATATAAAAATATATATTATATAAAATATATATTATATATAAAATATA TAATATATATAAAATATATACTATATATAAAATATATAATATATATAAAA TATATACTATATATAAAATATATACTATATATAAAATATATACTATATAT AAAATATATACTATATATAAAATATATACTATATATAAAATATATACTAT ATATAAAATATATATTATATATAAAATATATACTATATATAAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0210 a0001c0001t0003g0210	1	203	0.0049	492	c.963 others(511): Show c.963+14503_963+14504insAAATAGATATATATAAAATATATAAA ATAGATATTATATATAAAATATATATAATATATATATAAAATAGATATTA TATATAAAATATATATTATATATTATATAAAATATATATTATATATTATA TAATATATAATATATATTATATATATTATATATTATATATTAAATATATA TTATATATATAAAATATATATAAAATATATATTATATAAAATATATATAA AATATATATTATATAAAATATATATAAAAATATATATTATATAAAATATA TATTATATATAAAATATATAATATATATAAAATATATACTATATATAAAA TATATAATATATATAAAATATATACTATATATAAAATATATACTATATAT AAAATATATACTATATATAAAATATATACTATATATAAAATATATACTAT ATATAAAATATATACTATATATAAAATATATATTATATATAAAATATATA CTATATATAAAATATA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNMB2_chr3_178531436_178849429	178758189	G G	GATATATA others(485): Show GATATATATATATATATATATCCAAGAGGATATATATATATATATATATC CAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATATA TATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATA TATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATA TATATATATATATATATCCAAGAGGATATATATATATATATATATCCAAG AGGATATATATATATATATCCAAGAGGATATATATATCTATATATATCCA AGAGGATATATATATCTATATATATCCAAGAGGATATATATCTATATATA TCCAAGAGGATATATATATCTATATATCCAAGAGGATATATATATATATA TATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATATATA TATATCCAAGAGGATATATATATATATATATCCAAGAGGATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	173	0.0058	492	c.-67 others(511): Show c.-67-49136_-67-49135insATCCAAGAGGATATATATATATATAT ATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATAT ATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATAT ATATATATATATATATCCAAGAGGATATATATATATATATATATCCAAGA GGATATATATATATATATATATCCAAGAGGATATATATATATATATATAT CCAAGAGGATATATATATATATATCCAAGAGGATATATATATCTATATAT ATCCAAGAGGATATATATATCTATATATATCCAAGAGGATATATATCTAT ATATATCCAAGAGGATATATATATCTATATATCCAAGAGGATATATATAT ATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATAT ATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATAT ATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KDM4B_chr19_4964113_5158598	5131645	G G	GGGCAGGG others(485): Show GGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAG GTGGGGCACAGGGGAGCTGGTGGCGGGGAGGGGGGCAGGGAGGAGGGGGG CAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCT GGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGG GGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGTGGGGGAGGGGGG CAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTG GGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCA GGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGG TGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGG GAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0010 a0010	a0010c0027 a0010c0027	a0010c0027t0027 a0010c0027t0027	a0010c0027t0027g0258 a0010c0027t0027g0258	1	259	0.0039	492	c.178 others(509): Show c.1785+115_1785+116insGGCAGGTGGGGTGGGGCAGGGGAGGAGG GGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGAGGGGGGCAGGGAGGA GGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGG GGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGG GGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGTGGGGGA GGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGG CAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGG GGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGG AGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGG GCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAG GCAGGGAGGAGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
LMF1_chr16_848634_975984	857705	G G	GAGTGGTG others(485): Show GAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGT GTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCT CGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACG GGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTG TGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGC AGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTG GTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	242	0.0041	492	c.153 others(511): Show c.1530-3000_1530-2999insGCACACCCGTCCCGTGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACC CGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCG TCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCC GAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGA CACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACC ACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCAC TGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTG CACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTCAC ACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCC GTCCCGTGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
MAD1L1_chr7_1810795_2237945	1940974	C C	CCCTCCTC others(485): Show CCCTCCTCTTCCTCTCCCAGGCCTCAGCCTCCTCTTCCTCCCCCCGCAGG CCTCACCCTCCTCTTCCTCTCCCAGGCCTCAGCCTCCTCTTCCTCCCCCC GCAGGCCTCACCCTCCTCTTCCTCCCCCCGCAGGCCTCACCCTCCTCTTC CTCTCCCAGGCCTCACCCTCCTCTTCCTCCCCCCGCAGGCCTCACCCTCC TCTTCCTCTCCCAGGCCTCACCCTCCTCTTCCTCTCCCAGGCCTCAGCCT CCTCTTCCTCCCCCCGCAGGCCTCACCCTCCTCTTCCTCTCCCAGGCCTC AGCCTCCTCTTCCTCTCCCAGGCCTCACCCTCCTCTTCCTCTCCCAGGCC TCAGCCTCCTCTTCCTCCCCCCGCAGGCCTCACCCTCCTCTTCCTCCCCC CGCAGGCCTCACCCTCCTCTTCCTCTCCCAGGCCTCACCCTCCTCTTCCT CCCCCCGCAGGCCTCACCCTCCTCTTCCTCTCCCAGGCCTCAG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	162	0.0062	492	c.159 others(511): Show c.1597-4078_1597-4077insCTGAGGCCTGGGAGAGGAAGAGGAGG GTGAGGCCTGCGGGGGGAGGAAGAGGAGGGTGAGGCCTGGGAGAGGAAGA GGAGGGTGAGGCCTGCGGGGGGAGGAAGAGGAGGGTGAGGCCTGCGGGGG GAGGAAGAGGAGGCTGAGGCCTGGGAGAGGAAGAGGAGGGTGAGGCCTGG GAGAGGAAGAGGAGGCTGAGGCCTGGGAGAGGAAGAGGAGGGTGAGGCCT GCGGGGGGAGGAAGAGGAGGCTGAGGCCTGGGAGAGGAAGAGGAGGGTGA GGCCTGGGAGAGGAAGAGGAGGGTGAGGCCTGCGGGGGGAGGAAGAGGAG GGTGAGGCCTGGGAGAGGAAGAGGAGGGTGAGGCCTGCGGGGGGAGGAAG AGGAGGGTGAGGCCTGCGGGGGGAGGAAGAGGAGGCTGAGGCCTGGGAGA GGAAGAGGAGGGTGAGGCCTGCGGGGGGAGGAAGAGGAGGCTGAGGCCTG GGAGAGGAAGAGGAGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	16/18			chr7	TogoVar
MAN2B2_chr4_6570189_6628362	6579325	C C	CCATCACC others(485): Show CCATCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACC ACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCATCAC CACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCACCA CCACCATCACCACCACCACCACCACCACCACCATCACCACCATCACCACC ACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCAC CATCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCA CCACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCACC ACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCAC CACCACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCA TCACCACCACCACCATCACCACCATCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0299 a0002c0002t0001g0299	1	255	0.0039	492	c.391 others(507): Show c.391+829_391+830insTCACCACCACCACCACCACCACCATCACCA CCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCAT CACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCA TCACCACCATCACCACCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCATCAC CACCATCACCACCACCACCACCACCACCACCATCACCACCATCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCAC CACCACCACCATCACCATCACCACCACCACCATCACCACCATCACCACCA CCACCACCATCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MBNL3_chrX_132364320_132494038	132396679	T T	TATATATA others(485): Show TATATATATTCATATATATATTCATATATATATATTCATATATAGATTCA TATATATATTCATATATAGATTCATATATATTCATATATAGATTCATATA TATTCATATATAGATTCATATATATTCATATATAGATTCATATATATATT CATATATAGATTCATATATATATTCATATATATTCATATATAGATTCATA TATATATTCATATATAGATTCATATATATTCATATATATTCATATATATA TTCATATATATATTCATATATATATTCATATATATATTCATATATATATT CATATATATATTCATATATATTCATATATATATTCATATATATATTCATA TATATATTCATATATATTCATATATATATTCATATATATATTCATATATA TATTCATATATATTCATATATATTCATATATATATTCATATATATATTCA TATATATTCATATATATATTCATATATATATTCATATATATTC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0164 a0001c0001t0019g0164	1	129	0.0078	492	c.343 others(509): Show c.343-4346_343-4345insGAATATATATGAATATATATATGAATAT ATATATGAATATATATGAATATATATATGAATATATATATGAATATATAT GAATATATATGAATATATATATGAATATATATATGAATATATATATGAAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATGAATATATATATGAATATATATATGAATATATATATGAATATATATAT GAATATATATATGAATATATATATGAATATATATGAATATATATGAATCT ATATATGAATATATATATGAATCTATATATGAATATATATGAATATATAT ATGAATCTATATATGAATATATATATGAATCTATATATGAATATATATGA ATCTATATATGAATATATATGAATCTATATATGAATATATATGAATCTAT ATATGAATATATATATGAATCTATATATGAATATATATATATGAATATAT ATATGAATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396693	T T	TATATAGA others(485): Show TATATAGATTCATATATATATTCATATATATAGATTCATATATATATTCA TATATATATATTCATATATAGATTCATATATATATTCATATATAGATTCA TATATATTCATATATAGATTCATATATATTCATATATAGATTCATATATA GATTCATATATATTCATATATAGATTCATATATATATTCATATATATATT CATATATATTCATATATATATTCATATATATATTCATATATATATTCATA TATATTCATATATATATTCATATATATTCATATATATATTCATATATATA TTCATATATATATTCATATATATATTCATATATATTCATATATATTCATA TATATATTCATATATATATTCATATATATATTCATATATATATTCATATA TATTCATATATATATTCATATATATATTCATATATATTCATATATATATT CATATATATTCATATATATTCATATATATTCATATATATATTC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	186	0.0054	492	c.343 others(509): Show c.343-4360_343-4359insGAATATATATATGAATATATATGAATAT ATATGAATATATATGAATATATATATGAATATATATGAATATATATATGA ATATATATATGAATATATATGAATATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATGAATATATATGAATATATATAT GAATATATATATGAATATATATATGAATATATATATGAATATATATGAAT ATATATATGAATATATATGAATATATATATGAATATATATATGAATATAT ATATGAATATATATGAATATATATATGAATATATATATGAATCTATATAT GAATATATATGAATCTATATATGAATCTATATATGAATATATATGAATCT ATATATGAATATATATGAATCTATATATGAATATATATATGAATCTATAT ATGAATATATATATATGAATATATATATGAATCTATATATATGAATATAT ATATGAATCTATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(485): Show TATTCATATATAGATTCATATATATTCATATATAGATTCATATATATTCA TATATAGATTCATATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATATTCATATATATATTCATATATATTCATATATATT CATATATATATTCATATATATATTCATATATATTCATATATATATTCATA TATATATTCATATATATATTCATATATATATTCATATATATTCATATATA TTCATATATATATTCATATATATATTCATATATATATTCATATATATTCA TATATATATTCATATATATATTCATATATATATTCATATATATTCATATA TATTCATATATATTCATATATATATTCATATATATTCATATATATATTCA TATATATTCATATATATATTCATATATATATTCATATATATTCATATATA TTCATATATATATTCATATATATATATATTCATATATATATTC	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	109	0.0092	492	c.343 others(509): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATGAATATATATATGAATATATATGAATATATATAT GAATATATATGAATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATATGAATATATATGAATATATATATGAATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATATGAATATATATGAATATATAT ATGAATATATATATGAATATATATGAATATATATGAATATATATATGAAT ATATATATGAATATATATATGAATATATATGAATATATATATGAATATAT ATATGAATCTATATATGAATATATATGAATCTATATATGAATATATATGA ATCTATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MEX3D_chr19_1549672_1573325	1550131	C C	CCCACCCA others(485): Show CCCACCCATCCATCCATCCATCCACCCATCCATTCACTCACCTGCCCATC CACCCATCCATTCACTCACCTGCCCATCCACCCATCCATGCACTCACCTG CCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAAT CATCCACCCACCCATCCATCCATCCATCCAACCATCCACCCACTCATCTA TCCATCCATCCATCCATCCATCCATCCATCCATTTACCCACCCTCTCATC CATCCACCCACCCATCCACTTGTCCACCCATCCACCTGTTCACCCATCCA CCCATCCATCCATCCATCCAACCATCCACCCATCTATCCATCCATCCATC CAACCACTCATCCGTCCATCCATCCATCCATCCATCCATTTACCCACTCT CCCATCCACCCACCCATCGACTTGTCCACCCATACACCTGTTCACCCATC CACCCATCCATCCATCCATCCATCCAACCATCCACCCATCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA18957.hp1 NA19070.hp2 NA18950.hp1 NA18957.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0010 a0001c0001t0005g0011	3	247	0.0121	492	c.54 others(503): Show c.5431_*5432insATGGATGGGTGGATGGTTGGATGGATGGATGGAT GGATGGGTGGATGGGTGAACAGGTGTATGGGTGGACAAGTCGATGGGTGG GTGGATGGGAGAGTGGGTAAATGGATGGATGGATGGATGGATGGACGGAT GAGTGGTTGGATGGATGGATGGATAGATGGGTGGATGGTTGGATGGATGG ATGGATGGGTGGATGGGTGAACAGGTGGATGGGTGGACAAGTGGATGGGT GGGTGGATGGATGAGAGGGTGGGTAAATGGATGGATGGATGGATGGATGG ATGGATGGATAGATGAGTGGGTGGATGGTTGGATGGATGGATGGATGGGT GGGTGGATGATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATAGGCAGGTGAGTGCATGGATGGGTGGATGGGCAGGTGAGTGAAT GGATGGGTGGATGGGCAGGTGAGTGAATGGATGGGTGGATGGATGGATGG ATGGGTGG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4540		chr19	TogoVar
MEX3D_chr19_1549672_1573325	1550131	C C	CCCACCCA others(485): Show CCCACCCATCCATCCATCCATCCACCCATCCATTCACTCACCTGCCCATC CACCCATCCATTCACTCACCTGCCCATCCACCCATCCATGCACTCACCTG CCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CAATCATCCACCCACCCATCCATCCATCCATCCAACCATCCACCCACTCA TCTATCCATCCATCCATCCATCCATCCATCCATTTACCCACCCTCTCATC CATCCACCCACCCATCCACTTGTCCACCCATCCACCTGTTCACCCATCCA CCCATCCATCCATCCATCCAACCATCCACCCATCTATCCATCCATCCATC CAACCACTCATCCGTCCATCCATCCATCCATCCATCCATTTACCCACTCT CCCATCCACCCACCCATCGACTTGTCCACCCATACACCTGTTCACCCATC CACCCATCCATCCATCCATCCATCCAACCATCCACCCATCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00438.hp1 others(25): Show HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00597.hp2 HG00673.hp1 HG01981.hp1 HG02027.hp1 HG02165.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG03486.hp2 HG03490.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp1 HG04184.hp1 HG04228.hp2 NA18747.hp2 NA18953.hp1 NA18966.hp2 NA18971.hp1 NA19011.hp2 NA19056.hp1 NA19057.hp2 NA19068.hp1 NA19085.hp1 NA19088.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0016 a0003c0006 a0001c0001 a0001c0016 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0015 a0001c0001t0021 a0001c0001t0023 a0001c0016t0001 a0003c0006t0003	a0001c0001t0001g0009 a0001c0001t0001g0025 a0001c0001t0001g0073 others(22): Show a0001c0001t0001g0009 a0001c0001t0001g0025 a0001c0001t0001g0073 a0001c0001t0001g0089 a0001c0001t0001g0098 a0001c0001t0001g0175 a0001c0001t0001g0216 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0032 a0001c0001t0003g0065 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0005g0011 a0001c0001t0007g0070 a0001c0001t0007g0074 a0001c0001t0011g0234 a0001c0001t0015g0083 a0001c0001t0015g0084 a0001c0001t0021g0044 a0001c0001t0023g0190 a0001c0016t0001g0066 a0003c0006t0003g0078	28	272	0.1029	492	c.54 others(503): Show c.5431_*5432insATGGATGGGTGGATGGTTGGATGGATGGATGGAT GGATGGGTGGATGGGTGAACAGGTGTATGGGTGGACAAGTCGATGGGTGG GTGGATGGGAGAGTGGGTAAATGGATGGATGGATGGATGGATGGACGGAT GAGTGGTTGGATGGATGGATGGATAGATGGGTGGATGGTTGGATGGATGG ATGGATGGGTGGATGGGTGAACAGGTGGATGGGTGGACAAGTGGATGGGT GGGTGGATGGATGAGAGGGTGGGTAAATGGATGGATGGATGGATGGATGG ATGGATAGATGAGTGGGTGGATGGTTGGATGGATGGATGGATGGGTGGGT GGATGATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATAGGCAGGTGAGTGCATGGATGGGTGGATGGGCAGGTGAGTGAAT GGATGGGTGGATGGGCAGGTGAGTGAATGGATGGGTGGATGGATGGATGG ATGGGTGG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4540		chr19	TogoVar
MGRN1_chr16_4619826_4695972	4648769	C C	CGGGGGCT others(485): Show CGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCTCCGGGGCTCTTCCC GTGGTCACCCGGCTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGCT CCTCCTCCCGGGGGCTCTTCCCCGTGGTCACCCGGCTCCTCCTCCCGGGG CTCTTCCCCGTGGTCACCCGGCTCCTCCTCCCGGGGCTCTTCCCGTGGTC ACCCGGGTCCTCCTCCCGGGGACTCTTCCCATGGTCACCCGGGTCCTCCT CCTGGGGGCTCTTCCCATGGTCACCCGGGTCCTCCTCTCCGGGGCTCTTC CCGTGGTCACCCGGCTCCTCCTCCCGTGGTCACCCGGGTCCTCCTCCCGG GGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGGCTCTTCCCGTG GTCACCCGGCTCCTCCTCCCGAGGGCTCTTCCCCGTGGTCACCCGGCTCC TCCTCCCGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0018 a0001c0001t0004g0018	1	327	0.0031	492	c.89- others(507): Show c.89-1592_89-1591insGCTCTTCCCGTGGTCACCCGGCTCCTCCTC TCCGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGGCTCTTCC CGTGGTCACCCGGCTCCTCCTCCCGGGGGCTCTTCCCCGTGGTCACCCGG CTCCTCCTCCCGGGGCTCTTCCCCGTGGTCACCCGGCTCCTCCTCCCGGG GCTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGACTCTTCCCATGGT CACCCGGGTCCTCCTCCTGGGGGCTCTTCCCATGGTCACCCGGGTCCTCC TCTCCGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGTGGTCACCC GGGTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCG GGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGAGGGCTCTTCCCCG TGGTCACCCGGCTCCTCCTCCCGGGGCTCTTCCCGTGGTCACCCGGCTCC TCCTCCCGGGGG	MGRN1	ENSG00000102858.13	transcript	ENST00000262370.12	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(485): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCC CGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCC CCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGC CCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCACTCC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	6	0.1667	492	c.-8+ others(505): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAG CGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCG GGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGC CGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGG GCAGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MSR1_chr8_16102881_16197651	16189580	T T	TTTTATAT others(485): Show TTTTATATATATAAAATCTTATTTTATATATATTTTATATACATAAAATC TTATTTTATATATATTTTATATACATAAAATCTTATTTTATATATATTTT ATATACATAAAATCTTATTTTATATATATTTTATATACATAAAATCTTAT TTTATATATATTTTATATACATAAAATCTTATTTTATATATATTTTATAT ATAAAATCTTATTTTATATATATTTTATATATAAAATCTTATTTTATATA TATTTTATATATAAAATCTTATTTTATATATATTTTATATATAAAATCTT ATTTTATATATATTTTATATATATTTTATATATATAAAATCTTTATATAT ATTTTATATATATAAAATCTTTATATATATTTTATATATATAAAATCTTT ATATATATTTTATATATATAAAATCTTACTTTATATATATTTTATATATA TAAAATCTTACTTTATATATATTTTATATATATAAAATCTTAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02922.hp2 HG02145.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0038 a0001c0001t0001g0039	2	319	0.0063	492	c.-5+ others(507): Show c.-5+3017_-5+3018insGTAAGATTTTATATATATAAAATATATATA AAGTAAGATTTTATATATATAAAATATATATAAAGTAAGATTTTATATAT ATAAAATATATATAAAGATTTTATATATATAAAATATATATAAAGATTTT ATATATATAAAATATATATAAAGATTTTATATATATAAAATATATATAAA ATATATATAAAATAAGATTTTATATATAAAATATATATAAAATAAGATTT TATATATAAAATATATATAAAATAAGATTTTATATATAAAATATATATAA AATAAGATTTTATATATAAAATATATATAAAATAAGATTTTATGTATATA AAATATATATAAAATAAGATTTTATGTATATAAAATATATATAAAATAAG ATTTTATGTATATAAAATATATATAAAATAAGATTTTATGTATATAAAAT ATATATAAAATAAGATTTTATGTATATAAAATATATATAAAATAAGATTT TATATATATAAA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSR1_chr8_16102881_16197651	16189584	A A	ATATACAT others(485): Show ATATACATAAAATCTTATTTTATATATATTTTATATACATAAAATCTTAT TTTATATATATTTTATATACATAAAATCTTATTTTATATATATTTTATAT ACATAAAATCTTATTTTATATATATTTTATATACATAAAATCTTATTTTA TATATATTTTATATACATAAAATCTTATTTTATATATATTTTATATATAA AATCTTATTTTATATATATTTTATATATAAAATCTTATTTTATATATATT TTATATATAAAATCTTATTTTATATATATTTTATATATATTTTATATATA TAAAATCTTTATATATATTTTATATATATAAAATCTTTATATATATTTTA TATATATAAAATCTTTATATATATTTTATATATATAAAATCTTACTTTAT ATATATTTTATATATATAAAATCTTACTTTATATATATTTTATATATATA AAATCTTACTTTATATATATTTTATATATATAAAATCTTACTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	301	0.0033	492	c.-5+ others(507): Show c.-5+3013_-5+3014insAAGTAAGATTTTATATATATAAAATATATA TAAAGTAAGATTTTATATATATAAAATATATATAAAGTAAGATTTTATAT ATATAAAATATATATAAAGTAAGATTTTATATATATAAAATATATATAAA GATTTTATATATATAAAATATATATAAAGATTTTATATATATAAAATATA TATAAAGATTTTATATATATAAAATATATATAAAATATATATAAAATAAG ATTTTATATATAAAATATATATAAAATAAGATTTTATATATAAAATATAT ATAAAATAAGATTTTATATATAAAATATATATAAAATAAGATTTTATGTA TATAAAATATATATAAAATAAGATTTTATGTATATAAAATATATATAAAA TAAGATTTTATGTATATAAAATATATATAAAATAAGATTTTATGTATATA AAATATATATAAAATAAGATTTTATGTATATAAAATATATATAAAATAAG ATTTTATGTATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MTTP_chr4_99569824_99628997	99588815	A A	ACATATAT others(485): Show ACATATATATGTTCATATATATACACACATATATATGTTCATATATATAC ACACATATATATATGTTCATATATATACACACATATATATGTTCATATAT ATACACACATATATATATGTTCATATATATACACACATATATATGTTCAT ATATATACACACATATATATGTTCATATATATATTCATATATATATGTTC ATGTATATTCATATATATATGTTCATATATATATTCATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0305 a0004c0004t0001g0305	1	316	0.0032	492	c.394 others(507): Show c.394-819_394-818insGTTCATATATATACACACATATATATGTTC ATATATATACACACATATATATATGTTCATATATATACACACATATATAT GTTCATATATATACACACATATATATATGTTCATATATATACACACATAT ATATGTTCATATATATACACACATATATATGTTCATATATATATTCATAT ATATATGTTCATGTATATTCATATATATATGTTCATATATATATTCATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(485): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATATATCATATATA AAAATTTATATATATCATATATAAAAATTTATATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	196	0.0051	492	c.-28 others(503): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAA ATTTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATATATCATATATAAAAATTTATATATATCATATATAAAAATTTATATA TATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
MYO1F_chr19_8515778_8582442	8543684	G G	GTGGTGGT others(485): Show GTGGTGGTGCTGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGT GCTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGG TGGTGGTGCTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGCT GGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGCTGGTGGTGC TGGTGGTGCTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTG GTGCTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGATGGTGGT GGTGCTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGCTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTG CTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0333 a0001c0001t0011g0333	1	312	0.0032	492	c.152 others(509): Show c.1524+612_1524+613insTCACCACCACCACCACCACCATCACCAC CACCACCACCACCAGCACCACCACCACCACCACCACCAGCACCACCACCA CCACCAGCACCACCACCACCACCACCACCACCACCACCACCAGCACCACC AGCACCACCAGCACCACCACCATCACCACCACCACCACCAGCACCACCAC CACCACCACCAGCACCACCACCACCACCACCACCAGCACCACCACCACCA CCACCAGCACCACCAGCACCACCAGCACCACCACCATCACCACCACCACC ACCACCACCACCACCAGCACCACCACCACCACCACCAGCACCACCAGCAC CACCACCACCACCACCACCACCACCACCACCACCAGCACCACCACCACCA CCACCAGCACCACCACCACCACCACCACCACCACCAGCACCACCAGCACC ACCACCACCACCAGCACCACCACCACCACCACCAGCACCACCAGCACCAC CACCAGCACCACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
NCOR2_chr12_124319415_124572612	124320025	G G	GGATGACA others(485): Show GGATGACATCTTTCTTTGGGGGCAGGTGGGATGACCTCTTTCTTTGGGGG CGGGTGGGATGACCTCTTTCTTTGGGGGGAGGTGGGATGACCTCTTTCTT TGGGGGTGGGTGGGATGACATCTTTGGGGGCAGGTGGGATGACCTCTTTC TTTGGGGGCAGGTGGGATGACATCTTTCTTTGGGGGCAGGTGGGATGACA TCTTTCTTTGGGGGCAGGTGGGATGACATCTTTCTTTGGGGGCAGGTGGG ATGACCTCTTTCTTTGGGGGCGGGTGGGATGACCTCTTTCTTTGGGGGGA GGTGGGATGACCTCTTTCTTTGGGGGTGGGTGGGATGACATCTTTGGGGG CAGGTGGGATGACCTCTTTCTTTGGGGGTAGGTGGGATGACATCTTTGGG GGCAGGTGGGATGACCTCTTTCTTTGGGGGCGGGTGGGATGACCTCTTTC TTTGGGGGTAAGTGGGATGACCTCTTTGTTTGCGGGTAGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00544.hp2 others(51): Show HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01496.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02027.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02630.hp1 HG02723.hp1 HG02970.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18943.hp1 NA18948.hp1 NA18979.hp1 NA18990.hp1 NA18993.hp1 NA19000.hp2 NA19012.hp1 NA19043.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19085.hp2 NA19087.hp2 NA19091.hp1 NA20300.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0015 a0019 a0026 a0031	a0001c0003 a0001c0023 a0001c0028 others(34): Show a0001c0003 a0001c0023 a0001c0028 a0001c0038 a0001c0055 a0001c0056 a0001c0057 a0001c0089 a0001c0090 a0001c0131 a0001c0146 a0002c0015 a0002c0016 a0002c0033 a0002c0034 a0002c0059 a0002c0118 a0002c0153 a0002c0154 a0003c0025 a0003c0071 a0003c0074 a0003c0143 a0004c0054 a0004c0083 a0004c0094 a0004c0095 a0004c0096 a0005c0140 a0006c0007 a0006c0041 a0006c0080 a0008c0035 a0015c0137 a0019c0135 a0026c0130 a0031c0111	a0001c0003t0004 a0001c0003t0012 a0001c0003t0016 others(43): Show a0001c0003t0004 a0001c0003t0012 a0001c0003t0016 a0001c0023t0004 a0001c0023t0006 a0001c0028t0033 a0001c0038t0005 a0001c0055t0016 a0001c0056t0004 a0001c0057t0041 a0001c0089t0011 a0001c0090t0004 a0001c0131t0011 a0001c0146t0011 a0002c0015t0005 a0002c0015t0069 a0002c0015t0078 a0002c0016t0004 a0002c0016t0016 a0002c0033t0047 a0002c0033t0056 a0002c0034t0006 a0002c0059t0006 a0002c0118t0005 a0002c0153t0005 a0002c0154t0011 a0003c0025t0011 a0003c0071t0023 a0003c0074t0005 a0003c0143t0005 a0004c0054t0023 a0004c0083t0004 a0004c0094t0063 a0004c0095t0034 a0004c0096t0005 a0005c0140t0012 a0006c0007t0006 a0006c0007t0034 a0006c0041t0006 a0006c0080t0024 a0008c0035t0007 a0008c0035t0010 a0015c0137t0005 a0019c0135t0005 a0026c0130t0016 a0031c0111t0004	a0001c0003t0004g0053 a0001c0003t0004g0072 a0001c0003t0012g0046 others(51): Show a0001c0003t0004g0053 a0001c0003t0004g0072 a0001c0003t0012g0046 a0001c0003t0012g0070 a0001c0003t0012g0105 a0001c0003t0016g0021 a0001c0023t0004g0051 a0001c0023t0006g0019 a0001c0028t0033g0137 a0001c0038t0005g0156 a0001c0038t0005g0199 a0001c0055t0016g0049 a0001c0056t0004g0091 a0001c0057t0041g0106 a0001c0089t0011g0016 a0001c0090t0004g0052 a0001c0131t0011g0064 a0001c0146t0011g0060 a0002c0015t0005g0140 a0002c0015t0069g0227 a0002c0015t0078g0232 a0002c0016t0004g0005 a0002c0016t0004g0011 a0002c0016t0016g0074 a0002c0033t0047g0054 a0002c0033t0056g0043 a0002c0034t0006g0036 a0002c0034t0006g0037 a0002c0059t0006g0020 a0002c0118t0005g0149 a0002c0153t0005g0219 a0002c0154t0011g0063 a0003c0025t0011g0045 a0003c0071t0023g0195 a0003c0074t0005g0127 a0003c0143t0005g0171 a0004c0054t0023g0202 a0004c0083t0004g0093 a0004c0094t0063g0193 a0004c0095t0034g0209 a0004c0096t0005g0166 a0005c0140t0012g0002 a0006c0007t0006g0027 a0006c0007t0006g0028 a0006c0007t0006g0032 a0006c0007t0034g0109 a0006c0041t0006g0001 a0006c0080t0024g0188 a0008c0035t0007g0224 a0008c0035t0010g0225 a0015c0137t0005g0128 a0019c0135t0005g0138 a0026c0130t0016g0047 a0031c0111t0004g0042	54	218	0.2477	492	c.53 others(503): Show c.5376_*5377insTCACCTACCCGCAAACAAAGAGGTCATCCCACTT ACCCCCAAAGAAAGAGGTCATCCCACCCGCCCCCAAAGAAAGAGGTCATC CCACCTGCCCCCAAAGATGTCATCCCACCTACCCCCAAAGAAAGAGGTCA TCCCACCTGCCCCCAAAGATGTCATCCCACCCACCCCCAAAGAAAGAGGT CATCCCACCTCCCCCCAAAGAAAGAGGTCATCCCACCCGCCCCCAAAGAA AGAGGTCATCCCACCTGCCCCCAAAGAAAGATGTCATCCCACCTGCCCCC AAAGAAAGATGTCATCCCACCTGCCCCCAAAGAAAGATGTCATCCCACCT GCCCCCAAAGAAAGAGGTCATCCCACCTGCCCCCAAAGATGTCATCCCAC CCACCCCCAAAGAAAGAGGTCATCCCACCTCCCCCCAAAGAAAGAGGTCA TCCCACCCGCCCCCAAAGAAAGAGGTCATCCCACCTGCCCCCAAAGAAAG ATGTCATC	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding		4389		chr12	TogoVar
NCOR2_chr12_124319415_124572612	124320025	G G	GGATGACA others(485): Show GGATGACATCTTTCTTTGGGGGCAGGTGGGATGACCTCTTTCTTTGGGGG CGGGTGGGATGACCTCTTTCTTTGGGGGGAGGTGGGATGACCTCTTTCTT TGGGGGTGGGTGGGATGACATCTTTGGGGGCAGGTGGGATGACCTCTTTC TTTGGGGGCAGGTGGGATGACATCTTTCTTTGGGGGCAGGTGGGATGACA TCTTTCTTTGGGGGCAGGTGGGATGACATCTTTCTTTGGGGGCAGGTGGG ATGACCTCTTTCTTTGGGGGCGGGTGGGATGACCTCTTTCTTTGGGGGGA GGTGGGATGACCTCTTTCTTTGGGGGTGGGTGGGATGACATCTTTGGGGG CAGGTGGGATGACCTCTTTCTTTGGGGGTAGGTGGGATGACATCTTTGGG GGCAGTTGGGATGACCTCTTTCTTTGGGGGCGGGTGGGATGACCTCTTTC TTTGGGGGTAAGTGGGATGACCTCTTTGTTTGCGGGTAGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01106.hp2 HG04228.hp1 HG00280.hp1 HG01106.hp2 HG04228.hp1	a0001 a0001	a0001c0031 a0001c0048 a0001c0132 a0001c0031 a0001c0048 a0001c0132	a0001c0031t0035 a0001c0048t0064 a0001c0132t0035 a0001c0031t0035 a0001c0048t0064 a0001c0132t0035	a0001c0031t0035g0213 a0001c0048t0064g0182 a0001c0132t0035g0129 a0001c0031t0035g0213 a0001c0048t0064g0182 a0001c0132t0035g0129	3	167	0.0180	492	c.53 others(503): Show c.5376_*5377insTCACCTACCCGCAAACAAAGAGGTCATCCCACTT ACCCCCAAAGAAAGAGGTCATCCCACCCGCCCCCAAAGAAAGAGGTCATC CCAACTGCCCCCAAAGATGTCATCCCACCTACCCCCAAAGAAAGAGGTCA TCCCACCTGCCCCCAAAGATGTCATCCCACCCACCCCCAAAGAAAGAGGT CATCCCACCTCCCCCCAAAGAAAGAGGTCATCCCACCCGCCCCCAAAGAA AGAGGTCATCCCACCTGCCCCCAAAGAAAGATGTCATCCCACCTGCCCCC AAAGAAAGATGTCATCCCACCTGCCCCCAAAGAAAGATGTCATCCCACCT GCCCCCAAAGAAAGAGGTCATCCCACCTGCCCCCAAAGATGTCATCCCAC CCACCCCCAAAGAAAGAGGTCATCCCACCTCCCCCCAAAGAAAGAGGTCA TCCCACCCGCCCCCAAAGAAAGAGGTCATCCCACCTGCCCCCAAAGAAAG ATGTCATC	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding		4389		chr12	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TAATATAA others(485): Show TAATATAATATATATAAATATATAATATATATAATATATATTATATATAA ATATATAATATATATAATATATTATATATATATAATATATAATATATATT ATATATTATATATATTATAATATATAATATATATAATATATATTATATAT TATATATATATAATATATAATATATATTATATATAAATATATAATATATA ATATATATTATATATATATTATATAATATATAATATATTATATATATTAT ATAATATATTGTATATTATATAATATATAATATATAATATATATTATATA TAAATATATAATATATAATATAATATATAATATATAATATATTATATATA TTATATTATATATATTATATTATATATAATATATTATATATTATATATTT ATATATAATATATATATAATATATATTATATATTATATAATATATAATAT ATTATATATTATATAATATATATAATATATTATATAATATATA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0070 a0003c0004t0006g0070	1	202	0.0050	492	c.48+ others(507): Show c.48+1020_48+1021insAATATAATATATATAAATATATAATATATA TAATATATATTATATATAAATATATAATATATATAATATATTATATATAT ATAATATATAATATATATTATATATTATATATATTATAATATATAATATA TATAATATATATTATATATTATATATATATAATATATAATATATATTATA TATAAATATATAATATATAATATATATTATATATATATTATATAATATAT AATATATTATATATATTATATAATATATTGTATATTATATAATATATAAT ATATAATATATATTATATATAAATATATAATATATAATATAATATATAAT ATATAATATATTATATATATTATATTATATATATTATATTATATATAATA TATTATATATTATATATTTATATATAATATATATATAATATATATTATAT ATTATATAATATATAATATATTATATATTATATAATATATATAATATATT ATATAATATATA	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3			chr21	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TAATATAA others(485): Show TAATATAATATATATAAATATATAATATATATAATATATATTATATATAA ATATATAATATATATTATATATTATATATATATAATATATAATATATATT ATATATTATATATATTATAATATATAATATATATAATATATATTATATAT TATATATATATAATATATAATATATATTATATATAAATATATAATATATA ATATATATTATATATATATTATATAATATATAATATATTATATATATTAT ATAATATATTGTATATTATATAATATATAATATATAATATATATTATATA TAAATATATAATATATAATATAATATATAATATATAATATATTATATATA TTATATTATATATATTATATTATATATAATATATTATATATTATATATTT ATATATAATATATATATAATATATATTATATATTATATAATATATTATAT ATTATATATTATATAATATATATAATATATTATATAATATATA	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0017 a0002c0002t0006g0017	1	202	0.0050	492	c.48+ others(507): Show c.48+1020_48+1021insAATATAATATATATAAATATATAATATATA TAATATATATTATATATAAATATATAATATATATTATATATTATATATAT ATAATATATAATATATATTATATATTATATATATTATAATATATAATATA TATAATATATATTATATATTATATATATATAATATATAATATATATTATA TATAAATATATAATATATAATATATATTATATATATATTATATAATATAT AATATATTATATATATTATATAATATATTGTATATTATATAATATATAAT ATATAATATATATTATATATAAATATATAATATATAATATAATATATAAT ATATAATATATTATATATATTATATTATATATATTATATTATATATAATA TATTATATATTATATATTTATATATAATATATATATAATATATATTATAT ATTATATAATATATTATATATTATATATTATATAATATATATAATATATT ATATAATATATA	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3			chr21	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TTATATAT others(485): Show TTATATATAAATATATAATATATATAATATATATTATATATAAATATATA ATATATATTATATATTATATATATTATAATATATATAATATATAATATAT ATTATATATAAATATATATAATATATAATATATATTATATATAAATATAT ATAATATATAATATATATTATATATAAATATATATAATATATAATATATA TTATATATAAATATATATAATATATAATATATATTATATATAAATATATA TAATATATAATATATATTATATATAAATATATATATAATATATAATATAT ATTATATATAAATATATAATATATAATATATATTATATTATATATTATAT AATATGTAAATATATATTATATATATTATATAATATATAATATATTATAT ATATTATATAATATATTATATATAATATAATATATTATATATTATATAAT ATATTATATATTATATAATATATTATATATAATATATAATATA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0205 a0002c0003t0004g0205	1	202	0.0050	492	c.48+ others(507): Show c.48+1021_48+1022insATATATAAATATATAATATATATAATATAT ATTATATATAAATATATAATATATATTATATATTATATATATTATAATAT ATATAATATATAATATATATTATATATAAATATATATAATATATAATATA TATTATATATAAATATATATAATATATAATATATATTATATATAAATATA TATAATATATAATATATATTATATATAAATATATATAATATATAATATAT ATTATATATAAATATATATAATATATAATATATATTATATATAAATATAT ATATAATATATAATATATATTATATATAAATATATAATATATAATATATA TTATATTATATATTATATAATATGTAAATATATATTATATATATTATATA ATATATAATATATTATATATATTATATAATATATTATATATAATATAATA TATTATATATTATATAATATATTATATATTATATAATATATTATATATAA TATATAATATAT	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TTATATAT others(485): Show TTATATATAAATATATAATATATATAATATATATTATATATAAATATATA ATATATATTATATATTATATATATTATAATATATATAATATATAATATAT ATTATATATAAATATATATAATATATAATATATATTATATATAAATATAT ATAATATATAATATATATTATATATAAATATATATAATATATAATATATA TTATATATAAATATATATAATATATAATATATATTATATATAAATATATA TAATATATAATATATATTATATATAAATATATATATAATATATATTATAT ATAAATATATAATATATAATATATATTATATTATATATTATATAATATGT AAATATATATTATATATATTATATAATATATAATATATTATATATATTAT ATAATATATTATATATAATATAATATATTATATATTATATAATATATTAT ATATTATATAATATATTATATATAATATATAATATATTATATA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0028 a0002c0003t0028	a0002c0003t0028g0003 a0002c0003t0028g0003	1	202	0.0050	492	c.48+ others(507): Show c.48+1021_48+1022insATATATAAATATATAATATATATAATATAT ATTATATATAAATATATAATATATATTATATATTATATATATTATAATAT ATATAATATATAATATATATTATATATAAATATATATAATATATAATATA TATTATATATAAATATATATAATATATAATATATATTATATATAAATATA TATAATATATAATATATATTATATATAAATATATATAATATATAATATAT ATTATATATAAATATATATAATATATAATATATATTATATATAAATATAT ATATAATATATATTATATATAAATATATAATATATAATATATATTATATT ATATATTATATAATATGTAAATATATATTATATATATTATATAATATATA ATATATTATATATATTATATAATATATTATATATAATATAATATATTATA TATTATATAATATATTATATATTATATAATATATTATATATAATATATAA TATATTATATAT	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TTATATAT others(485): Show TTATATATAAATATATAATATATATAATATATATTATATATAAATATATA ATATATATTATATATTATATATATTATAATATATATAATATATAATATAT ATTATATATAAATATATATAATATATAATATATATTATATATAAATATAT ATAATATATAATATATATTATATATAAATATATATAATATATAATATATA TTATATATAAATATATATAATATATAATATATATTATATATAAATATATA TAATATATAATATATATTATATATAAATATATATATAATATATATTATAT ATTATATATAAATATATAATATATAATATATATTATATTATATATTATAT AATATGTAAATATATATTATATATATTATATAATATATAATATATTATAT ATATTATATAATATATTATATATAATATAATATATTATATATTATATAAT ATATTATATATTATATAATATATTATATATAATATATTATATA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18983.hp1 NA19070.hp2 NA18954.hp1 NA18983.hp1 NA19070.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0003 a0002c0003t0004g0202 a0002c0003t0004g0003 a0002c0003t0004g0202	3	204	0.0147	492	c.48+ others(507): Show c.48+1021_48+1022insATATATAAATATATAATATATATAATATAT ATTATATATAAATATATAATATATATTATATATTATATATATTATAATAT ATATAATATATAATATATATTATATATAAATATATATAATATATAATATA TATTATATATAAATATATATAATATATAATATATATTATATATAAATATA TATAATATATAATATATATTATATATAAATATATATAATATATAATATAT ATTATATATAAATATATATAATATATAATATATATTATATATAAATATAT ATATAATATATATTATATATTATATATAAATATATAATATATAATATATA TTATATTATATATTATATAATATGTAAATATATATTATATATATTATATA ATATATAATATATTATATATATTATATAATATATTATATATAATATAATA TATTATATATTATATAATATATTATATATTATATAATATATTATATATAA TATATTATATAT	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NEU4_chr2_241804193_241822413	241806347	C C	CCTCAGCC others(485): Show CCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAG GAACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAG GCCTCCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCTCCCTCCCT CCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCC GCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCT CCCTCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCTCA ACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCTCCTCAGCCCAGGAACCTCTGCAGGCCACCCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	314	0.0032	492	c.-29 others(503): Show c.-2931_-2930insCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCT CCCCCCTCAACCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCTCAACC CAGGGACCTCCGCAGGCCTCCCTCCCTCCCCCTCAGCCCAGGGACCTCCG CAGGCCTCCCTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTC AACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACC TCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCCTCCCTCCTCAGCCCAGGAACCTCTGCAGGCCA CCCTCCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2845		chr2	TogoVar
NEXN_chr1_77883624_77948895	77887967	T T	TTCCTCTT others(485): Show TTCCTCTTCCTCTTCCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTCTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCCTTCTTCC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	1	266	0.0038	492	c.-84 others(501): Show c.-845_-844insTCCTCTTCCTCTTCCTTCCTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCT TCTTCCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTTCTTCTTCTTCTTCTTCT TCTTCC	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding		656		chr1	TogoVar
NKD2_chr5_1003802_1043943	1025165	T T	TCTCTGTG others(485): Show TCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGG GCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAG CCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTC CCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTT CCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGC TGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGT CTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGTGTCCCAGCCCG TTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTG CTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCA CCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0057 a0001c0001t0004g0057	1	150	0.0067	492	c.142 others(509): Show c.142-6658_142-6657insTCTGTGGGTGTCCCAGCCCGTTGTCCCT GCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCC ACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCTGT GGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTC AGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTG TCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTC TTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCC GCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGC GTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCC CGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCC TGCTCTTCCCACCC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NXN_chr17_794310_984776	949090	G G	GGCCTCCT others(485): Show GGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTACTC TCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCGCGGCCTCCTACTCTCCCCCCTGCCTCCTCCTCTCCCC CCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCC TCTCCCCCCTGCCTCCTCCTCTCCCCGTGGCCTCCTCCTCTCCCCCTGCC TCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGTGGCCTCCTCCTCTCCC CCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCC TCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGTGGC CTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCC CGCGGCCTCCTCCTCTCCCCCCCTGCCTCCTCCTCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	128	0.0078	492	c.360 others(511): Show c.360+30228_360+30229insAGGGGGGAGAGGAGGAGGCAGGGGGG GAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGG CAGGGGGAGAGGAGGAGGCCACGGGGAGAGGAGGAGGCAGGGGGGAGAGG AGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGG GGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCCACGGGGAGAGGAGGAGG CAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCCACGGGGAGAGG AGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGG GGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGTAGGAG GCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGA GGAGGAGGCAGGGGGGAGAGTAGGAGGCCGCGGGGAGAGGAGGAGGCAGG GGGGAGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
P2RX3_chr11_57333352_57377396	57376393	C C	CCCCTACT others(485): Show CCCCTACTCCCATCCCCCCACCTCCACCCCACCCGACTTCCAACCCCCGC ACCCCTGCACCTCACCATCCCTACAATCCCATCCCCCCCACCCCTACTCC CATCCCCCCACCTCCCACTCCCACCCCTACTCCCAACCCCCCACCTCCCA CCCACACCCCTACTCCCATCCCCCCCACCTCCCCACTCCCACCCCTACTC CCATCCCCACCACCATCTCCCCCACCCCTACTCCCAACCCCTCACCTCCA CCACACCCATCTCTACTCCCATCCCCCCACCTCCCACTCCCACCCCTACT CCCAACCCCTCACCTCCACCAACCCTACCCCTACTCCCATCCCCCCACCT CCCACCCCACCCCTACTCCCATTCCCCCACCTCCCACTCCCACCCCTACT CCCAGTCCCCCACCTCCCACCCTCATCCCTACTCCCATCCCCCCACTTCC CACCCCACCCCTACTCCCAACCCCTCACCTGCACCACACCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0082 a0002c0002t0001g0082	1	352	0.0028	492	c.63 others(503): Show c.6396_*6397insCCCTACTCCCATCCCCCCACCTCCACCCCACCCG ACTTCCAACCCCCGCACCCCTGCACCTCACCATCCCTACAATCCCATCCC CCCCACCCCTACTCCCATCCCCCCACCTCCCACTCCCACCCCTACTCCCA ACCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCCACCTCCCCA CTCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCC AACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCC ACTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACT CCCATCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCC ACTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCC CATCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACC ACACCCAT	P2RX3	ENSG00000109991.10	transcript	ENST00000263314.3	protein_coding		3998		chr11	TogoVar
PAK2_chr3_196734857_196837647	196811326	C C	CTCCTTCC others(485): Show CTCCTTCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTCCCCC TCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTT CCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTC CTTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCC CTCCCTTCCTTCCCTTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCC TTCCCTTCCCTCCCTCCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCC TTCCCTTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTTCC CTCCCTCCCCTCCCTTCCCTCCCTTCCCTCCCTCCTCCTTCCTTCCCTTC CTTCCCTTCCTTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCC TTCCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0059 a0001c0002t0059	a0001c0002t0059g0113 a0001c0002t0059g0113	1	143	0.0070	492	c.773 others(507): Show c.773+673_773+674insTCCTTCCTTCCTTCCCTTCCTTCCCTTCCT TCCCTTCCCTCCCTCCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCC TCCCTTCCCTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTT CCTTCCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTCCCCTC CCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTTC CCTCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTCCCCCTCCCTTCCCTC CCTCCCCTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTTCCCTCCCTTC CTTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTTCCCTCC CTCCTCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTTT CCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCTTTC CTTCCTTTCCTT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14			chr3	TogoVar
PALD1_chr10_70473767_70573450	70554949	T T	TCCCCTCC others(485): Show TCCCCTCCCCCTCCTCCCCCTCCCTTCCCCCTCCTCCCCCTCCCTTCCCC CTCCTCCCCCTCCCTTCCCCCTCCTCCCCCTCCCTTCCCCCTCCTCCCCC TCCCTTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCTTCCCTC CCCCTCCTCCCCCTCCTTCCCTCCCCCTCCTCCCCCTCCCTTCCCCCTCC TCCCCCTCCCCTCCCCCTCCTCCCCCTCCTTCCCTCCCCCTCCTCCCCCT CCTCCCCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCT CCCCCTCCCCTCCCCCTCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTTCCCC TCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCC CCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0129 a0001c0006t0008g0129	1	292	0.0034	492	c.226 others(511): Show c.2262+7505_2262+7506insCCTCCCCCTCCTCCCCCTCCCTTCCC CCTCCTCCCCCTCCCTTCCCCCTCCTCCCCCTCCCTTCCCCCTCCTCCCC CTCCCTTCCCCCTCCTCCCCCTCCCTTCCCCCTCCTCCCCCTCCCCTCCC CCTCCTCCCCCTCCTTCCCTCCCCCTCCTCCCCCTCCTTCCCTCCCCCTC CTCCCCCTCCCTTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCC TTCCCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCTCCTCCC CTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACT CCCCTTCCCCTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCC ACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(485): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	321	0.0031	492	c.-26 others(503): Show c.-2680_-2679insGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCCATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATA GATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2214		chr20	TogoVar
PPP2R3B_chrX_328933_391907	363524	G G	GCAGTGCA others(485): Show GCAGTGCATCTCCATGAGTCCACGATCCCACAATGCATCTCCCCGTGCCC GCAATCCCACAATGCATCTCCCCGAGCCCACCATCCCACAGTCATCTCCC CGTGCCCACCATCCCACAATGCATCTCCCCAAGCCCGCGATCCCACAGTG CATCTCCCCGAGCCCACGATCCCACAGTGCATCTCCCCGAGCCCACCATC CCACAGTGCATCTCCCCGAGCCCACCATCCCACAGTGCATCTCCCCGAGC CCACCATCCCACAGTGCATCTCCCCGAGCCCACCATCCCACAATGCATCT CCCCGAGCCCACCATCCCACAATGCATCTCCCCGAGCCCGCGATCCCACA GTGCATCTCCCCGAGCCCACGATCCCACAGTGCATCTCCCCGAGCCCACC ATCCCACAGTGCATCTCCCCGAGCCCACGATCCCACAGTGCATCTCCCCG AGCCCACGATCCCACAGTGCATCTCCCCGAGCCCACGATCCCA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0016 a0002c0001t0002g0016	1	22	0.0455	492	c.325 others(509): Show c.325-1935_325-1934insTGGGATCGTGGGCTCGGGGAGATGCACT GTGGGATCGTGGGCTCGGGGAGATGCACTGTGGGATCGTGGGCTCGGGGA GATGCACTGTGGGATGGTGGGCTCGGGGAGATGCACTGTGGGATCGTGGG CTCGGGGAGATGCACTGTGGGATCGCGGGCTCGGGGAGATGCATTGTGGG ATGGTGGGCTCGGGGAGATGCATTGTGGGATGGTGGGCTCGGGGAGATGC ACTGTGGGATGGTGGGCTCGGGGAGATGCACTGTGGGATGGTGGGCTCGG GGAGATGCACTGTGGGATGGTGGGCTCGGGGAGATGCACTGTGGGATCGT GGGCTCGGGGAGATGCACTGTGGGATCGCGGGCTTGGGGAGATGCATTGT GGGATGGTGGGCACGGGGAGATGACTGTGGGATGGTGGGCTCGGGGAGAT GCATTGTGGGATTGCGGGCACGGGGAGATGCATTGTGGGATCGTGGACTC ATGGAGATGCACTG	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12			chrX	TogoVar
PXDN_chr2_1626887_1749515	1720178	A A	AGAGGGAG others(485): Show AGAGGGAGGGAGGGATGTAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAG AGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGATGCA GAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAGGGATG TAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGA GGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGA GGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAGGGATGTAGAGAGAGAGA GAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGA GAGAGAGAGGGAGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGC AGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAT GCAGAGAGAGAGAGAGGGAGGGATGCAGAGAGAGAGAGGGAGG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0113 a0001c0002t0003g0113	1	282	0.0035	492	c.200 others(511): Show c.200+24077_200+24078insCCTCCCTCTCTCTCTCTGCATCCCTC CCTCTCTCTCTCTCTGCATCCCTCCCTCTCTCTCTCTCTGCATCCCTCCC TCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATC CCTCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCT GCATCCCTCCCTCCCTCTCTCTCTCTCTACATCCCTCCCTCCCTCTCTCT CTGCATCCCTCCCTCCCTCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCT CTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCT CCCTCTCTCTCTCTCTACATCCCTCCCTCCCTCTCTCTCTGCATCCCTCC CTCCCTCTCTCTCTCTCTGCATCCTCCCTCCCTCTCTCTCTCTCTGCATC CCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTA CATCCCTCCCTCCCTC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(485): Show CTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCC TCCCCTTCCTTCCCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCT TTCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCC TCCTCTCCCCTCCCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCT ACACTTCCCTCCCCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCT ACACTTCCCTTCCCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCT CCCTTCCCATCCCCTTCCCTCCCTTCCCCTCCCCCCACCCTCCCTTCCCC TCCCTTCTTCTCTCCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTC CCCTCCCCTCCCTTTCCCTCCCCTCCCCTCCCCTCCCTTCCCA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0112 a0002c0006t0112	a0002c0006t0112g0205 a0002c0006t0112g0205	1	10	0.1000	492	c.80+ others(509): Show c.80+30515_80+30516insCCCCTTCCCTCCCTTTCCCTCCCCTCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTC TCCCCTCCCTCCCCCTCCCCTTCCTTCCCCTCTCCTTCCTTCCCCTCCCC TCCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTTTCTCCCTT CCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTACACTTCCGT CCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTCCCTTTCCCT CCTCTTCCCTCCCCTCCCTTCCCATCCCCTTCCCTCCCTTCCCCTCCCCC CACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCCTTCCCTC CCTTCCCCTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCCTCCCCTC CCTTCCCATCCCCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(485): Show CTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCT CCCCTTCCTTCCCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTT TCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCT CCTCTCCCCTCCCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTA CACTTCCCTCCCCTCCCCTTCCCCTACACTTCCGTCCCCTCCCCTTCCCT ACACTTCCCTTCCCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCT CCCTTCCCATCCCCTTCCCTCCCTTCCCCTCCCCCCACCCTCCCTTCCCC TCCCTTCTTCTCTCCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTC CCCTCCCCTCCCTTTCCCTCCCCTCCCCTCCCCTCCCTTCCCA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0083 a0001c0002t0083	a0001c0002t0083g0079 a0001c0002t0083g0079	1	10	0.1000	492	c.80+ others(509): Show c.80+30515_80+30516insCCCCTTCCCTCCCTTTCCCTCCCCTCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTC TCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCTCCTTCCTTCCCCTCCCCT CCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCT CCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTTTCTCCCTTC CCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCCTACACTTCCGT CCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTCCCTTTCCCT CCTCTTCCCTCCCCTCCCTTCCCATCCCCTTCCCTCCCTTCCCCTCCCCC CACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCCTTCCCTC CCTTCCCCTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCCTCCCCTC CCTTCCCATCCCCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(485): Show CTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCT CCCCTTCCTTCCCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTT TCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCT CCTCTCCCCTCCCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTA CACTTCCCTCCCCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTA CACTTCCCTTCCCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTC CCTTCCCATCCCCTTCCCTCCCTTCCCCTCCCCCCACCCTCCCTTCCCCT CCCTTCTTCTCTCCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCC CCCTCCCCTCCCTTTCCCTCCCCTCCCCTCCCCTCCCTTCCCA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00544.hp1 HG00544.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0084 a0002c0003t0136 a0001c0001t0084 a0002c0003t0136	a0001c0001t0084g0175 a0002c0003t0136g0128 a0001c0001t0084g0175 a0002c0003t0136g0128	2	11	0.1818	492	c.80+ others(509): Show c.80+30515_80+30516insCCCCTTCCCTCCCTTTCCCTCCCCTCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTC TCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCTCCTTCCTTCCCCTCCCCT CCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCT CCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTTTCTCCCTTC CCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTACACTTCCGTC CCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTCCCTTTCCCTC CTCTTCCCTCCCCTCCCTTCCCATCCCCTTCCCTCCCTTCCCCTCCCCCC ACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCCTTCCCTCC CTTCCCCTCCCCTCCCCCTCCCCTCCCTTTCCCTCCCCTCCCCTCCCCTC CCTTCCCATCCCCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(485): Show CTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCT CCCCTTCCTTCCCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTT TCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCT CCTCTCCCCTCCCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTA CACTTCCCTCCCCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTA CACTTCCCTTCCCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTC CCTTCCCATCCCCTTCCCTCCCTTCCCCTCCCCCCCACCCTCCCTTCCCC TCCCTTCTTCTCTCCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTC CCCTCCCCTCCCTTTCCCTCCCCTCCCCTCCCCTCCCTTCCCA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01981.hp1 HG03942.hp1 others(2): Show HG01099.hp2 HG01981.hp1 HG03942.hp1 NA18966.hp2 NA18983.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0022 a0002c0003 others(1): Show a0001c0002 a0001c0022 a0002c0003 a0002c0012	a0001c0002t0007 a0001c0002t0094 a0001c0022t0033 others(2): Show a0001c0002t0007 a0001c0002t0094 a0001c0022t0033 a0002c0003t0024 a0002c0012t0055	a0001c0002t0007g0187 a0001c0002t0094g0117 a0001c0022t0033g0177 others(2): Show a0001c0002t0007g0187 a0001c0002t0094g0117 a0001c0022t0033g0177 a0002c0003t0024g0183 a0002c0012t0055g0024	5	14	0.3571	492	c.80+ others(509): Show c.80+30515_80+30516insCCCCTTCCCTCCCTTTCCCTCCCCTCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTC TCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCTCCTTCCTTCCCCTCCCCT CCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCT CCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTTTCTCCCTTC CCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTACACTTCCGTC CCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTCCCTTTCCCTC CTCTTCCCTCCCCTCCCTTCCCATCCCCTTCCCTCCCTTCCCCTCCCCCC CACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCCTTCCCTC CCTTCCCCTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCCTCCCCTC CCTTCCCATCCCCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831060	T T	TCCCCTCC others(485): Show TCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCCT CCCTTCCCCTCCCCTCCCTTCCCATCCCCTCCTCTCCCCTCCCTCCCCTC CCCTTCCTTCCCCTCTCCTTCCTTCCCTCCCTCCCCTTCCCTCCCTTTCC CTCCCCTCCCTTCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCTCT CCCCTCCCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACACTT CCCTCCCCTCCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCTACACTT CCCTTCCCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTCCCTTC CCATCCCCTTCCCTCCCTTCCCCTCCCCCCCACCCTCCCTTCCCTCCTCT CTTCTCTCCTCCCCCTCCCCTCCCCTTCCCTCCCTTCCCCCTCCCCTCCC CTCCCCTCCCTTTCCCTCCCCTCCCCTCCCCTCCCTTCCCATC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0067 a0001c0023t0067	a0001c0023t0067g0009 a0001c0023t0067g0009	1	214	0.0047	492	c.80+ others(509): Show c.80+30515_80+30516insCCCCTTCCCTCCCTTTCCCTCCCCTCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCATCCCCTCCTC TCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCTCCTTCCTTCCCTCCCTCC CCTTCCCTCCCTTTCCCTCCCCTCCCTTCCTCCCCTCCCCTTCCCTCCCT TCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTTTCTCCCTTCCCCT CCCATCCCCTACACTTCCCTCCCCTCCCCCTTCCCTACACTTCCGTCCCC TCCCCTTCCTACACTTCCCTTCCCTCCCCTCCCCTCCCTTTCCCTCCTCT TCCCTCCCCTCCCTTCCCATCCCCTTCCCTCCCTTCCCCTCCCCCCCACC CTCCCTTCCCTCCTCTCTTCTCTCCTCCCCCTCCCCTCCCCTTCCCTCCC TTCCCCCTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCCTCCCCTCC CTTCCCATCCCCCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RFLNA_chr12_124290093_124321024	124320025	G G	GGATGACA others(485): Show GGATGACATCTTTCTTTGGGGGCAGGTGGGATGACCTCTTTCTTTGGGGG CGGGTGGGATGACCTCTTTCTTTGGGGGGAGGTGGGATGACCTCTTTCTT TGGGGGTGGGTGGGATGACATCTTTGGGGGCAGGTGGGATGACCTCTTTC TTTGGGGGCAGGTGGGATGACATCTTTCTTTGGGGGCAGGTGGGATGACA TCTTTCTTTGGGGGCAGGTGGGATGACATCTTTCTTTGGGGGCAGGTGGG ATGACCTCTTTCTTTGGGGGCGGGTGGGATGACCTCTTTCTTTGGGGGGA GGTGGGATGACCTCTTTCTTTGGGGGTGGGTGGGATGACATCTTTGGGGG CAGGTGGGATGACCTCTTTCTTTGGGGGTAGGTGGGATGACATCTTTGGG GGCAGGTGGGATGACCTCTTTCTTTGGGGGCGGGTGGGATGACCTCTTTC TTTGGGGGTAAGTGGGATGACCTCTTTGTTTGCGGGTAGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00438.hp2 others(85): Show HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG01070.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01496.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02630.hp1 HG02723.hp1 HG02970.hp1 HG03130.hp2 HG03669.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp2 NA18940.hp2 NA18943.hp1 NA18944.hp1 NA18948.hp1 NA18951.hp1 NA18954.hp2 NA18956.hp2 NA18960.hp2 NA18968.hp2 NA18969.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp2 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA19000.hp2 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19043.hp1 NA19056.hp1 NA19062.hp1 NA19062.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19079.hp1 NA19081.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19089.hp2 NA19091.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0008 a0001c0001t0033 others(8): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0033 a0001c0001t0037 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0016 a0001c0002t0020 a0001c0002t0030 a0001c0007t0002	a0001c0001t0001g0342 a0001c0001t0008g0118 a0001c0001t0033g0032 others(83): Show a0001c0001t0001g0342 a0001c0001t0008g0118 a0001c0001t0033g0032 a0001c0001t0037g0174 a0001c0002t0002g0020 a0001c0002t0002g0027 a0001c0002t0002g0055 a0001c0002t0002g0068 a0001c0002t0002g0074 a0001c0002t0002g0077 a0001c0002t0002g0079 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0084 a0001c0002t0002g0089 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0101 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0152 a0001c0002t0002g0241 a0001c0002t0002g0248 a0001c0002t0002g0251 a0001c0002t0003g0007 a0001c0002t0003g0008 a0001c0002t0003g0137 a0001c0002t0003g0138 a0001c0002t0003g0140 a0001c0002t0003g0142 a0001c0002t0003g0144 a0001c0002t0003g0149 a0001c0002t0003g0150 a0001c0002t0003g0166 a0001c0002t0003g0171 a0001c0002t0003g0175 a0001c0002t0003g0176 a0001c0002t0003g0179 a0001c0002t0003g0195 a0001c0002t0003g0196 a0001c0002t0003g0208 a0001c0002t0003g0209 a0001c0002t0003g0210 a0001c0002t0003g0212 a0001c0002t0003g0213 a0001c0002t0003g0214 a0001c0002t0003g0215 a0001c0002t0003g0219 a0001c0002t0003g0220 a0001c0002t0003g0223 a0001c0002t0003g0224 a0001c0002t0003g0225 a0001c0002t0003g0228 a0001c0002t0003g0233 a0001c0002t0003g0234 a0001c0002t0003g0235 a0001c0002t0004g0043 a0001c0002t0004g0127 a0001c0002t0004g0155 a0001c0002t0004g0163 a0001c0002t0004g0183 a0001c0002t0004g0187 a0001c0002t0004g0188 a0001c0002t0004g0237 a0001c0002t0004g0252 a0001c0002t0004g0253 a0001c0002t0004g0259 a0001c0002t0004g0262 a0001c0002t0004g0263 a0001c0002t0004g0264 a0001c0002t0004g0272 a0001c0002t0004g0274 a0001c0002t0004g0305 a0001c0002t0004g0319 a0001c0002t0016g0135 a0001c0002t0016g0173 a0001c0002t0016g0229 a0001c0002t0016g0230 a0001c0002t0020g0238 a0001c0002t0020g0255 a0001c0002t0030g0011 a0001c0007t0002g0098	88	349	0.2521	492	c.55 others(503): Show c.5500_*5501insGATGACATCTTTCTTTGGGGGCAGGTGGGATGAC CTCTTTCTTTGGGGGCGGGTGGGATGACCTCTTTCTTTGGGGGGAGGTGG GATGACCTCTTTCTTTGGGGGTGGGTGGGATGACATCTTTGGGGGCAGGT GGGATGACCTCTTTCTTTGGGGGCAGGTGGGATGACATCTTTCTTTGGGG GCAGGTGGGATGACATCTTTCTTTGGGGGCAGGTGGGATGACATCTTTCT TTGGGGGCAGGTGGGATGACCTCTTTCTTTGGGGGCGGGTGGGATGACCT CTTTCTTTGGGGGGAGGTGGGATGACCTCTTTCTTTGGGGGTGGGTGGGA TGACATCTTTGGGGGCAGGTGGGATGACCTCTTTCTTTGGGGGTAGGTGG GATGACATCTTTGGGGGCAGGTGGGATGACCTCTTTCTTTGGGGGCGGGT GGGATGACCTCTTTCTTTGGGGGTAAGTGGGATGACCTCTTTGTTTGCGG GTAGGTGA	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding		4002		chr12	TogoVar
RFLNA_chr12_124290093_124321024	124320025	G G	GGATGACA others(485): Show GGATGACATCTTTCTTTGGGGGCAGGTGGGATGACCTCTTTCTTTGGGGG CGGGTGGGATGACCTCTTTCTTTGGGGGGAGGTGGGATGACCTCTTTCTT TGGGGGTGGGTGGGATGACATCTTTGGGGGCAGGTGGGATGACCTCTTTC TTTGGGGGCAGGTGGGATGACATCTTTCTTTGGGGGCAGGTGGGATGACA TCTTTCTTTGGGGGCAGGTGGGATGACATCTTTCTTTGGGGGCAGGTGGG ATGACCTCTTTCTTTGGGGGCGGGTGGGATGACCTCTTTCTTTGGGGGGA GGTGGGATGACCTCTTTCTTTGGGGGTGGGTGGGATGACATCTTTGGGGG CAGGTGGGATGACCTCTTTCTTTGGGGGTAGGTGGGATGACATCTTTGGG GGCAGTTGGGATGACCTCTTTCTTTGGGGGCGGGTGGGATGACCTCTTTC TTTGGGGGTAAGTGGGATGACCTCTTTGTTTGCGGGTAGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01106.hp1 HG01358.hp2 others(6): Show HG00280.hp1 HG01106.hp1 HG01358.hp2 HG01943.hp2 HG03239.hp1 HG03710.hp1 HG03942.hp2 HG04228.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0002c0005t0002 a0001c0001t0002 a0002c0005t0002	a0001c0001t0002g0001 a0001c0001t0002g0014 a0001c0001t0002g0015 others(5): Show a0001c0001t0002g0001 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0021 a0001c0001t0002g0030 a0002c0005t0002g0023	9	270	0.0333	492	c.55 others(503): Show c.5500_*5501insGATGACATCTTTCTTTGGGGGCAGGTGGGATGAC CTCTTTCTTTGGGGGCGGGTGGGATGACCTCTTTCTTTGGGGGGAGGTGG GATGACCTCTTTCTTTGGGGGTGGGTGGGATGACATCTTTGGGGGCAGGT GGGATGACCTCTTTCTTTGGGGGCAGGTGGGATGACATCTTTCTTTGGGG GCAGGTGGGATGACATCTTTCTTTGGGGGCAGGTGGGATGACATCTTTCT TTGGGGGCAGGTGGGATGACCTCTTTCTTTGGGGGCGGGTGGGATGACCT CTTTCTTTGGGGGGAGGTGGGATGACCTCTTTCTTTGGGGGTGGGTGGGA TGACATCTTTGGGGGCAGGTGGGATGACCTCTTTCTTTGGGGGTAGGTGG GATGACATCTTTGGGGGCAGTTGGGATGACCTCTTTCTTTGGGGGCGGGT GGGATGACCTCTTTCTTTGGGGGTAAGTGGGATGACCTCTTTGTTTGCGG GTAGGTGA	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding		4002		chr12	TogoVar
RNF17_chr13_24759169_24884921	24881852	C C	CTATATAG others(485): Show CTATATAGATATATAGATGCATCTATATAGATATATAGATGCATCTATAT AGATATATAATCTATATAGATATATAATCTATATAGATATATAGATACAT CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATAT AGATATATAGATACATCTATATAGATATATAGATACATCTATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT ATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	417	0.0024	492	c.21 others(503): Show c.2126_*2127insTATATAGATATATAGATGCATCTATATAGATATA TAGATGCATCTATATAGATATATAATCTATATAGATATATAATCTATATA GATATATAGATACATCTATATAGATATATAGATACATCTATATAGATATA TAGATACATCTATATAGATATATAGATACATCTATATAGATATATAGATA CATCTATATAGATACATCTATATATAGATACATCTATATATAGATACATC TATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTA TATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1932		chr13	TogoVar
RPTOR_chr17_80539838_80971368	80700730	A A	ATGATGGT others(485): Show ATGATGGTGATGGTGATGGTAGAGATTATGGTGATGGTGGTGGTGGTGAT GGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTAGAGA TGGTGATGGTGGTGATGATGATGGTCGTGGTGATGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGGTGATGGTAGAGATGATGGTGATGGTGATGAT GGAGGTGATGGTGGTGATGGTGATGGTGGTGGTGGTGGTGATGATGGTGA TGGTGATGGTAGAGATGATGGTGATGATGGAGGTGGTGGTGATGGTGATG GTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGATGATGGTGACGGTGAT GGTAGAGATGATAGTGATGGTGGTGGTGATGATGGTGGTGATGGTGGTGG TGGTGATGATGGTGATGGTGATGGTAGAGATGGTGGTGGTGGTGATGATG GTGACGGTGATGGTAGAGATGATGGTGGTGGTGGTGGTGATGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0065 a0001c0021t0065	a0001c0021t0065g0112 a0001c0021t0065g0112	1	8	0.1250	492	c.349 others(509): Show c.349-7103_349-7102insATGGTGATGGTAGAGATTATGGTGATGG TGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGATG GTGATGGTAGAGATGGTGATGGTGGTGATGATGATGGTCGTGGTGATGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAGAGATGATGG TGATGGTGATGATGGAGGTGATGGTGGTGATGGTGATGGTGGTGGTGGTG GTGATGATGGTGATGGTGATGGTAGAGATGATGGTGATGATGGAGGTGGT GGTGATGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGATGA TGGTGACGGTGATGGTAGAGATGATAGTGATGGTGGTGGTGATGATGGTG GTGATGGTGGTGGTGGTGATGATGGTGATGGTGATGGTAGAGATGGTGGT GGTGGTGATGATGGTGACGGTGATGGTAGAGATGATGGTGGTGGTGGTGG TGATGGTGATGGTG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80700730	A A	ATGATGGT others(485): Show ATGATGGTGATGGTGATGGTAGAGATTATGGTGATGGTGGTGGTGGTGAT GGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTAGAGA TGGTGATGGTGGTGATGATGATGGTCGTGGTGATGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGATGGTAGAGATGATGGTGATGGTGATGATGGA GGTGATGGTGGTGATGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGA TGGTAGAGATGATGGTGATGATGGAGGTGGTGGTGATGGTGATGGTGGTG GTGATGGTGATGGTGGTGGTGGTGGTGATGATGGTGACGGTGATGGTAGA GATGATAGTGATAGTGGTGGTGATGATGGTGGTGATGGTGGTGGTGGTGA TGATGGTGATGGTGATGGTAGAGATGGTGGTGGTGGTGGTGGTGATGATG GTGACGGTGATGGTAGAGATGATGGTGGTGGTGGTGGTGATGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0010 a0001c0026t0010	a0001c0026t0010g0044 a0001c0026t0010g0044	1	8	0.1250	492	c.349 others(509): Show c.349-7103_349-7102insATGGTGATGGTAGAGATTATGGTGATGG TGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGATG GTGATGGTAGAGATGGTGATGGTGGTGATGATGATGGTCGTGGTGATGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAGAGATGATGGTGA TGGTGATGATGGAGGTGATGGTGGTGATGGTGATGGTGGTGGTGGTGGTG ATGGTGATGGTGATGGTAGAGATGATGGTGATGATGGAGGTGGTGGTGAT GGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGATGATGGTGA CGGTGATGGTAGAGATGATAGTGATAGTGGTGGTGATGATGGTGGTGATG GTGGTGGTGGTGATGATGGTGATGGTGATGGTAGAGATGGTGGTGGTGGT GGTGGTGATGATGGTGACGGTGATGGTAGAGATGATGGTGGTGGTGGTGG TGATGGTGATGGTG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80700730	A A	ATGGTGAT others(485): Show ATGGTGATGGTGATGGTAGAGATTATGGTGATGGTGGTGGTGGTGATGGT GGTGATGGTGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTAGAGATGG TGATGGTGGTGATGATGATGGTCGTGGTGATGGTGGTGGTGATGGTGGTG GTGGTGGTGGTGGTGATGGTAGAGATGATGGTGATGGTGATGATGGAGGT GATGGTGGTGATGGTGATGGTGGTGGTGGTGGTGATGATGGTGATGGTGA TGGTAGAGATGATGGTGATGATGGAGGTGGTGGTGATGGTGATGGTGGTG GTGATGGTGATGGTGGTGGTGGTGGTGATGATGGTGACGGTGATGGTAGA GATGATAGTGATAGTGGTGGTGATGATGGTGGTGATGGTGGTGGTGGTGA TGATGGTGATGGTGATGGTAGAGATGGTGGTGGTGGTGGTGGTGATGATG GTGACGGTGATGGTAGAGATGATGGTGGTGGTGGTGGTGATGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp1 HG02109.hp2 HG02717.hp1	a0001 a0001	a0001c0009 a0001c0065 a0001c0009 a0001c0065	a0001c0009t0012 a0001c0065t0006 a0001c0009t0012 a0001c0065t0006	a0001c0009t0012g0106 a0001c0065t0006g0104 a0001c0009t0012g0106 a0001c0065t0006g0104	2	9	0.2222	492	c.349 others(509): Show c.349-7109_349-7108insGTGATGGTGATGGTAGAGATTATGGTGA TGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTG ATGGTGATGGTAGAGATGGTGATGGTGGTGATGATGATGGTCGTGGTGAT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTAGAGATGATGG TGATGGTGATGATGGAGGTGATGGTGGTGATGGTGATGGTGGTGGTGGTG GTGATGATGGTGATGGTGATGGTAGAGATGATGGTGATGATGGAGGTGGT GGTGATGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGATGA TGGTGACGGTGATGGTAGAGATGATAGTGATAGTGGTGGTGATGATGGTG GTGATGGTGGTGGTGGTGATGATGGTGATGGTGATGGTAGAGATGGTGGT GGTGGTGGTGGTGATGATGGTGACGGTGATGGTAGAGATGATGGTGGTGG TGGTGGTGATGGTG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar

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