Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ABCB11_chr2_168915781_169036324	168975324	T T	TATAAATA others(953): Show TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATATAAATATTTATATATTTATA GATAAATATATATATATAAATATTTATATATTTATAGATAAATATATAAA TATATAAATATTTATATATTTATAGATAAATATATAAATATATAAATATT TATAGATAAATATATAAATATATAAATATTTATATATTTATAGATAAATA TATAAATATTTATATATTTATCTATAAATATATAAATATTTATATATTTA TAGATAAATATATAAATATTTATATATTTATAGATAAATATATAAATATA TAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATA GATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTT TATATTTATAG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	271	0.0037	960	c.130 others(979): Show c.1308+1252_1308+1253insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTT ATCTATAAATATATAAATATTTATATATTTATCTATAAATATATAAATAT TTATATATTTATAGATAAATATATAAATATTTATATATTTATCTATAAAT ATATAAATATTTATATATTTATATATTTATCTATAAATATTTATATATTT ATATATTTATCTATAAATATATAAATATTTATATATTTATATATTTATCT ATAAATATATAAATATTTATATATATATATTTATCTATAAATATATAAAT ATTTATATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTAT		ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27						chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975476	T T	TATAAATA others(953): Show TATAAATATATATATTTATATATTTATAGATAAATATATAAATATATAAA TATTTATAGATAAATATATAAATATATAAATATTTATATATTTATAGATA AATATATAAATATTTATATATTTATCTATAAATATATAAATATTTATATA TTTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAA TATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATT TATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATA TTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAA TATATCAATATATAAATATTTTTATATTTATAGATAAATATATCAATATA TAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATA GATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATA TTTATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTA TATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGA TAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTA TATTTATAGATAAATATATCAATATATAAATATTTTTATATTTATAGATA AATATATCAATATATAAATATTTTTATATTTATAGATAAATATATCAATA TATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGA TAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATT TATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTT TATATTTATAG	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	228	0.0044	960	c.130 others(979): Show c.1308+1100_1308+1101insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTT ATATATTTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATCTATAAATATAAAAATATATATTGATATATTTAT CTATAAATATAAAAATATTTATATATTGATATATTTATCTATAAATATAA AAATATTTATATATTGATATATTTATCTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTAT AAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTAT ATATTTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTGATATATTT ATCTATAAATATAAAAATATTTATATATTGATATATTTATCTATAAATAT AAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTAT CTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTT ATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATAT AAAAATATTTATATATTTATATATTTATCTATAAATATATAAATATTTAT ATATTTATAGATAAATATATAAATATTTATATATTTATCTATAAATATAT AAATATTTATATATTTATATATTTATCTATAAATATTTATATATTTATAT ATTTATCTATAAATATATAAATATATATATTTAT		ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27						chr2	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(953): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG AGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGG GAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAG GGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGA AGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGG GAGGGAGGGAAGGAAAGGAGGGAGGGAGGGAGGGATGGGAGGGAGGGAGG GAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGA GGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGG AGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGAGGGAGGGAGGGATGG GAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAA AGGAGAGATGGGAGGGAGGGAAGGAAAGGATGGGAGGGAGGGAGGGAAGG AAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAG GGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGA GGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGG AGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGG GATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0003 a0004c0008t0003	a0004c0008t0003g0035 a0004c0008t0003g0035	1	25	0.0400	960	c.259 others(981): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCTCCTTTCCT TCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCC CTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTC CCTCCCATCCTTTCCTTCCCTCCCTCCCATCTCTCCTTTCCTTCCCCTCC CTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTC CCTCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCT CCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCT TTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCC CATCCCTCCCTCCCTCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTC CTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCT CCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCC CTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTC CTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCTCCTTTCCTT CCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCC TCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCC CTCCCATCCTTTCCTTCTCTCCCACCCTCCCATCCCTCCTTTCCTTCCCA CCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCTCTCCTTTCCTTCC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21						chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(953): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGATGGAGGGAGGGAAGGAAAGGAGGG ATGGGATGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGA AGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGG GAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAG GGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGAGGGAGGGAGGGATGGGA GGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGG AGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGG GAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGAGGGAG GGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGA GGGGAAGGAAAGGAGAGATGGGAGGGAGGGAAGGAAAGGATGGGAGGGAG GGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGA GGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGG AGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGG GATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0010 a0010	a0010c0037 a0010c0037	a0010c0037t0001 a0010c0037t0001	a0010c0037t0001g0116 a0010c0037t0001g0116	1	25	0.0400	960	c.259 others(981): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCTCCTTTCCT TCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCC TTTCCTTCCCTCCCTCCCATCTCTCCTTTCCTTCCCCTCCCTCCCTCCCA TCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCTCCT TTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCC CATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCT CCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCC TCCCTCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCC CTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTC CTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCT CCCATCCCTCCCTCCCTCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCC TCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCC CTCCCATCCCTCCTTTCCTTCCCTCCCTCCATCCCATCCCTCCTTTCCTT CCCTCCCTCCATCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCC TCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCC CTCCCATCCTTTCCTTCTCTCCCACCCTCCCATCCCTCCTTTCCTTCCCA CCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCTCTCCTTTCCTTCC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21						chr15	TogoVar
AFAP1_chr4_7753714_7944861	7864093	C C	CCATTCCC others(953): Show CCATTCCCAACTTCCCATCACAACCCATTCCCAACTTCCCATCACAACCC ATTCCCAACTTCCCATCACAACACCTTCCCAACTTCCCATCACAACACCT TCCCAACTTCCCATCACAACACCTTCCCAACTTCCCATCACAACACCTTC CCAACTTCCCATCACAACCCATTCCCAACTTCCCATCACAACCCATTCCC AACTTCCCATCACAACCCATTCCCAACTTCCCATCACAACCCATTCCCAA CTTCCCATCACAACCCATTCCCAACTTCCCATCACAACACATTCCCAACT TCCCATCACAACACATTCCCAACTTCCCATCACAACACATTCCCAACTTC CCATCACAACACATTCCCAACTTCCCATCACAACCCATTCCCAACTTCTC ATCACAACCCATTCCCAACTTCTCATCACAACCCATTCCCAACTTCTCAT CACAACACATTCCCAACTTCCCATCACAACACATTCCCAACTTCCCATCA CAACACATTCCCAACTTCCCATCACAACACATTCCCAACTTCCCATCACA ACACATTCCCAACTTCTCATCACAACACATTCCCAACTTCCCATCACAAC ACATTCCCAACTTCCCATCACAACACCTTCCCAACTTCCCATCACAACAC CTTCCCAACTTCCCATCACAACACCTTCCCAACTTCCCATCACAACACAT TCCCAACTTCCCATCACAACACCTTCCCAACTTCCCATCACAACACATTC CCAACTTCTCATCACAACACATTCCCAACTTCTCATCACAACACATTCCC AACTTCTCATCACAACACATTCCCAACTTCCCATCACAACACATTCCCAA CTTCCCATCACAACACCTTCCCAACTTCCCATCACAACACATTCCCAACT TCCCATCACAACACATTCCCAACTTCCCATCACAACACATTCCCAACTTC CCATCACAACA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0127 a0001c0002t0003g0127	1	88	0.0114	960	c.225 others(977): Show c.225+4528_225+4529insTGTTGTGATGGGAAGTTGGGAATGTGTT GTGATGGGAAGTTGGGAATGTGTTGTGATGGGAAGTTGGGAATGTGTTGT GATGGGAAGTTGGGAAGGTGTTGTGATGGGAAGTTGGGAATGTGTTGTGA TGGGAAGTTGGGAATGTGTTGTGATGAGAAGTTGGGAATGTGTTGTGATG AGAAGTTGGGAATGTGTTGTGATGAGAAGTTGGGAATGTGTTGTGATGGG AAGTTGGGAAGGTGTTGTGATGGGAAGTTGGGAATGTGTTGTGATGGGAA GTTGGGAAGGTGTTGTGATGGGAAGTTGGGAAGGTGTTGTGATGGGAAGT TGGGAAGGTGTTGTGATGGGAAGTTGGGAATGTGTTGTGATGGGAAGTTG GGAATGTGTTGTGATGAGAAGTTGGGAATGTGTTGTGATGGGAAGTTGGG AATGTGTTGTGATGGGAAGTTGGGAATGTGTTGTGATGGGAAGTTGGGAA TGTGTTGTGATGGGAAGTTGGGAATGTGTTGTGATGAGAAGTTGGGAATG GGTTGTGATGAGAAGTTGGGAATGGGTTGTGATGAGAAGTTGGGAATGGG TTGTGATGGGAAGTTGGGAATGTGTTGTGATGGGAAGTTGGGAATGTGTT GTGATGGGAAGTTGGGAATGTGTTGTGATGGGAAGTTGGGAATGTGTTGT GATGGGAAGTTGGGAATGGGTTGTGATGGGAAGTTGGGAATGGGTTGTGA TGGGAAGTTGGGAATGGGTTGTGATGGGAAGTTGGGAATGGGTTGTGATG GGAAGTTGGGAATGGGTTGTGATGGGAAGTTGGGAAGGTGTTGTGATGGG AAGTTGGGAAGGTGTTGTGATGGGAAGTTGGGAAGGTGTTGTGATGGGAA GTTGGGAAGGTGTTGTGATGGGAAGTTGGGAATGGGTTGTGATGGGAAGT TGGGAATGGGTTGTGATGGGAAGTTGGGAATG		AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	3/17						chr4	TogoVar
AFAP1_chr4_7753714_7944861	7864093	C C	CCATTCCC others(953): Show CCATTCCCAACTTCCCATCACAACCCATTCCCAACTTCCCATCACAACCC ATTCCCAACTTCCCATCACAACACCTTCCCAACTTCCCATCACAACACCT TCCCAACTTCCCATCACAACACCTTCCCAACTTCCCATCACAACACCTTC CCAACTTCCCATCACAACCCATTCCCAACTTCCCATCACAACCCATTCCC AACTTCCCATCACAACCCATTCCCAACTTCCCATCACAACCCATTCCCAA CTTCCCATCACAACCCATTCCCAACTTCCCATCACAACCCATTCCCAACT TCCCATCACAACACATTCCCAACTTCCCATCACAACACATTCCCAACTTC CCATCACAACACATTCCCAACTTCCCATCACAACACATTCCCAACTTCCC ATCACAACACATTCCCAACTTCTCATCACAACCCATTCCCAACTTCTCAT CACAACCCATTCCCAACTTCCCATCACAACACATTCCCAACTTCCCATCA CAACACATTCCCAACTTCCCATCACAACACATTCCCAACTTCCCATCACA ACACATTCCCAACTTCCCATCACAACACATTCCCAACTTCTCATCACAAC ACATTCCCAACTTCCCATCACAACACCTTCCCAACTTCCCATCACAACAC CTTCCCAACTTCCCATCACAACACCTTCCCAACTTCCCATCACAACACAT TCCCAACTTCCCATCACAACACCTTCCCAACTTCCCATCACAACACATTC CCAACTTCTCATCACAACACATTCCCAACTTCTCATCACAACACATTCCC AACTTCCCATCACAACACATTCCCAACTTCCCATCACAACACATTCCCAA CTTCCCATCACAACACCTTCCCAACTTCCCATCACAACACATTCCCAACT TCCCATCACAACACATTCCCAACTTCCCATCACAACACATTCCCAACTTC CCATCACAACA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0062 a0001c0004t0062	a0001c0004t0062g0242 a0001c0004t0062g0242	1	88	0.0114	960	c.225 others(977): Show c.225+4528_225+4529insTGTTGTGATGGGAAGTTGGGAATGTGTT GTGATGGGAAGTTGGGAATGTGTTGTGATGGGAAGTTGGGAATGTGTTGT GATGGGAAGTTGGGAAGGTGTTGTGATGGGAAGTTGGGAATGTGTTGTGA TGGGAAGTTGGGAATGTGTTGTGATGGGAAGTTGGGAATGTGTTGTGATG AGAAGTTGGGAATGTGTTGTGATGAGAAGTTGGGAATGTGTTGTGATGGG AAGTTGGGAAGGTGTTGTGATGGGAAGTTGGGAATGTGTTGTGATGGGAA GTTGGGAAGGTGTTGTGATGGGAAGTTGGGAAGGTGTTGTGATGGGAAGT TGGGAAGGTGTTGTGATGGGAAGTTGGGAATGTGTTGTGATGAGAAGTTG GGAATGTGTTGTGATGGGAAGTTGGGAATGTGTTGTGATGGGAAGTTGGG AATGTGTTGTGATGGGAAGTTGGGAATGTGTTGTGATGGGAAGTTGGGAA TGTGTTGTGATGGGAAGTTGGGAATGGGTTGTGATGAGAAGTTGGGAATG GGTTGTGATGAGAAGTTGGGAATGTGTTGTGATGGGAAGTTGGGAATGTG TTGTGATGGGAAGTTGGGAATGTGTTGTGATGGGAAGTTGGGAATGTGTT GTGATGGGAAGTTGGGAATGTGTTGTGATGGGAAGTTGGGAATGGGTTGT GATGGGAAGTTGGGAATGGGTTGTGATGGGAAGTTGGGAATGGGTTGTGA TGGGAAGTTGGGAATGGGTTGTGATGGGAAGTTGGGAATGGGTTGTGATG GGAAGTTGGGAATGGGTTGTGATGGGAAGTTGGGAAGGTGTTGTGATGGG AAGTTGGGAAGGTGTTGTGATGGGAAGTTGGGAAGGTGTTGTGATGGGAA GTTGGGAAGGTGTTGTGATGGGAAGTTGGGAATGGGTTGTGATGGGAAGT TGGGAATGGGTTGTGATGGGAAGTTGGGAATG		AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	3/17						chr4	TogoVar
ARHGEF10_chr8_1818926_1963641	1833057	G G	GACAGAAG others(953): Show GACAGAAGGAGAGAGAGAGAGACAGAGGCAGAGACAGAGGCAGAGAGAGA CAGAGACAGAGGCAGAGAGAGATAGAGGCAGAGAGAGACAGAGACAGAGG CAGAGACAGAGGCAGAGAGAGACAGAGACGGAGAGAGAGACAGAGGCAGA GAGAGAGACAGAGGCAGAGAGAGACAGAGACAGAGGCAGAGACAGAGGCA GAGAGAGACAGAGACGGAGAGAGAGACAGAGGCAGAGAGAGACAGACAGA GGCAGAGGCAGAGACAGAAATAGACAGAGGCAGAGAGAGACACAGGCAGA GACAGAGAGAGACAGAGACAGAGACAGAGAGAGACAGAGACAGGCAGAGA GAGACACAGGCAGAGACAGAGAGAGACAGAGACAGAGAGAGACAGAGACA GGCAGAGAGAGACAGAGGCAGAGACAGCGACAGGCAGAGACAGAGGCAGA GACAGAGACAGGCAGAGACAGAGGCAGAGAGAGACAGAGGGAGAGACAGA AGCAGAGAGAGAGAGAGAGACAGAGGCAGAGAGAGACAGAGACAGAGGCA GAGACAGAGGCAGAGGCAGAGACAGGCAGAGACAGAGGCAGAGGCAGAGA CAGAAGCAGAGGGAGGCAGAGGGAGACAGAGACAGAGGCAGAGACAGAGG CAGAGAGAGACAGAGGCAGAGGCAGAGGCAGAGACAGAGATAGACAGAGG CAGAGAGAGACACAGGCAGAGACAGACAGAGAGACAGAGACAGGCAGAGA GATACAGAGAGACAGAGACAGAGAGACAGGGACAGGCAGAGAGATACAGA GAGACAGAGGCAGAGAGACAGAGACAGGCAGAGAGAGACAGAGAGAGACA GAGGCAGAGAGAGACAGGCAGAGACAGACAGAGACAGAGACAGAGGCAGA GAGAGACAGAGGCAGAGACAGAGGCAGAGACAGACAGAGAGACAGAGGCA GAGACAGAAGC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01978.hp1 HG01981.hp2 others(10): Show HG00597.hp2 HG01978.hp1 HG01981.hp2 HG02148.hp2 HG02165.hp1 HG03704.hp2 NA18948.hp1 NA18954.hp2 NA18967.hp2 NA19058.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0006 a0001c0011 a0001c0069 others(9): Show a0001c0006 a0001c0011 a0001c0069 a0001c0153 a0001c0156 a0002c0127 a0002c0149 a0002c0150 a0002c0151 a0007c0053 a0007c0147 a0007c0148	a0001c0006t0001 a0001c0011t0001 a0001c0069t0001 others(9): Show a0001c0006t0001 a0001c0011t0001 a0001c0069t0001 a0001c0153t0002 a0001c0156t0002 a0002c0127t0001 a0002c0149t0047 a0002c0150t0001 a0002c0151t0001 a0007c0053t0001 a0007c0147t0002 a0007c0148t0002	a0001c0006t0001g0009 a0001c0011t0001g0016 a0001c0069t0001g0010 others(10): Show a0001c0006t0001g0009 a0001c0011t0001g0016 a0001c0069t0001g0010 a0001c0153t0002g0015 a0001c0156t0002g0006 a0002c0127t0001g0013 a0002c0149t0047g0007 a0002c0150t0001g0008 a0002c0151t0001g0011 a0007c0053t0001g0005 a0007c0053t0001g0014 a0007c0147t0002g0004 a0007c0148t0002g0003	13	329	0.0395	960	c.-48 others(977): Show c.-48+8945_-48+8946insCAGAAGGAGAGAGAGAGAGACAGAGGCA GAGACAGAGGCAGAGAGAGACAGAGACAGAGGCAGAGAGAGATAGAGGCA GAGAGAGACAGAGACAGAGGCAGAGACAGAGGCAGAGAGAGACAGAGACG GAGAGAGAGACAGAGGCAGAGAGAGAGACAGAGGCAGAGAGAGACAGAGA CAGAGGCAGAGACAGAGGCAGAGAGAGACAGAGACGGAGAGAGAGACAGA GGCAGAGAGAGACAGACAGAGGCAGAGGCAGAGACAGAAATAGACAGAGG CAGAGAGAGACACAGGCAGAGACAGAGAGAGACAGAGACAGAGACAGAGA GAGACAGAGACAGGCAGAGAGAGACACAGGCAGAGACAGAGAGAGACAGA GACAGAGAGAGACAGAGACAGGCAGAGAGAGACAGAGGCAGAGACAGCGA CAGGCAGAGACAGAGGCAGAGACAGAGACAGGCAGAGACAGAGGCAGAGA GAGACAGAGGGAGAGACAGAAGCAGAGAGAGAGAGAGAGACAGAGGCAGA GAGAGACAGAGACAGAGGCAGAGACAGAGGCAGAGGCAGAGACAGGCAGA GACAGAGGCAGAGGCAGAGACAGAAGCAGAGGGAGGCAGAGGGAGACAGA GACAGAGGCAGAGACAGAGGCAGAGAGAGACAGAGGCAGAGGCAGAGGCA GAGACAGAGATAGACAGAGGCAGAGAGAGACACAGGCAGAGACAGACAGA GAGACAGAGACAGGCAGAGAGATACAGAGAGACAGAGACAGAGAGACAGG GACAGGCAGAGAGATACAGAGAGACAGAGGCAGAGAGACAGAGACAGGCA GAGAGAGACAGAGAGAGACAGAGGCAGAGAGAGACAGGCAGAGACAGACA GAGACAGAGACAGAGGCAGAGAGAGACAGAGGCAGAGACAGAGGCAGAGA CAGACAGAGAGACAGAGGCAGAGACAGAAGCA		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ARID1B_chr6_156772378_157215779	157147569	C C	CCTCACCT others(953): Show CCTCACCTCCGCCTCCGGCCCTGCCCTCCGTCCCTCACCTCCGCCTCCGG CCCTGCCCGCCGTCCCCCACCCCCGCCTCCGACCCTGCCCTCCGTCCCCC ACCCCAGCCTCCGACCCTGCCCGCCAGCCCTCACCCCCGCCTCCGGCCCT GCCCTCCATCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGGCCCTCACCC CCGCCTCCGACCCTGCCCGCCTTCCCTCACCCCCGCCTCCGGCCCTGCCC TCCGGCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGGCCCTCACCCCCGC CTCCGGCCCTGCCCTCCGGCCCTCACCCCCGCCTCCGACCCTGCCCGCCT TCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCC GGCCCTGCCCTCCGTCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGGCCC TCACCCCAGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCAGCCTCCGACC CTGCCCGCCAGCCCTCACCCCCGCCTCCGACCCTGCCCGCCTTCCCTCAC CCCCGCCTCCGGCCCTGCCCTCCGGCCCTCACCCCAGCCTCCGACCCTGC CCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCTCACCCCC GCCTCCGGCCCTGCCCTCCGTCCCCCACCCCAGCCTCCGGCCCTGCCCTC CGTCCCCCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCT CCGGCCCTGCCCGCCAGCCCTCACCCCCGCCTCCGACCCTGCCCTCCGTC CCTCACCCCCGCCTCCGACCCTGACCTCCGTCCCTCACCCCCGCCTCCGG CCCTGACCTCCGTCCCTCACCTCCGCCTCCGACCCTGCCCTCCGTCCCTC ACCTCCGCCTCCGGCCCTGCCCTCCGTCCCTCACCTCCGCCTCCGGCCCT GCCCTCCGTCG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02922.hp1 HG03041.hp1 others(1): Show HG02630.hp1 HG02922.hp1 HG03041.hp1 HG06807.hp1	a0001 a0003 a0015 others(1): Show a0001 a0003 a0015 a0018	a0001c0001 a0003c0035 a0015c0025 others(1): Show a0001c0001 a0003c0035 a0015c0025 a0018c0041	a0001c0001t0005 a0003c0035t0022 a0015c0025t0005 others(1): Show a0001c0001t0005 a0003c0035t0022 a0015c0025t0005 a0018c0041t0005	a0001c0001t0005g0061 a0003c0035t0022g0043 a0015c0025t0005g0131 others(1): Show a0001c0001t0005g0061 a0003c0035t0022g0043 a0015c0025t0005g0131 a0018c0041t0005g0150	4	147	0.0272	960	c.276 others(979): Show c.2762-1030_2762-1029insTCCGTCCCTCACCTCCGCCTCCGGCC CTGCCCGCCGTCCCCCACCCCCGCCTCCGACCCTGCCCTCCGTCCCCCAC CCCAGCCTCCGACCCTGCCCGCCAGCCCTCACCCCCGCCTCCGGCCCTGC CCTCCATCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGGCCCTCACCCCC GCCTCCGACCCTGCCCGCCTTCCCTCACCCCCGCCTCCGGCCCTGCCCTC CGGCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGGCCCTCACCCCCGCCT CCGGCCCTGCCCTCCGGCCCTCACCCCCGCCTCCGACCCTGCCCGCCTTC CCTCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGG CCCTGCCCTCCGTCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGGCCCTC ACCCCAGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCAGCCTCCGACCCT GCCCGCCAGCCCTCACCCCCGCCTCCGACCCTGCCCGCCTTCCCTCACCC CCGCCTCCGGCCCTGCCCTCCGGCCCTCACCCCAGCCTCCGACCCTGCCC TCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCTCACCCCCGC CTCCGGCCCTGCCCTCCGTCCCCCACCCCAGCCTCCGGCCCTGCCCTCCG TCCCCCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCC GGCCCTGCCCGCCAGCCCTCACCCCCGCCTCCGACCCTGCCCTCCGTCCC TCACCCCCGCCTCCGACCCTGACCTCCGTCCCTCACCCCCGCCTCCGGCC CTGACCTCCGTCCCTCACCTCCGCCTCCGACCCTGCCCTCCGTCCCTCAC CTCCGCCTCCGGCCCTGCCCTCCGTCCCTCACCTCCGCCTCCGGCCCTGC CCTCCGTCGCTCACCTCCGCCTCCGGCCCTGCCC		ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	7/19					INFO_REALIGN_3_PRIME	chr6	TogoVar
ATP9B_chr18_79064394_79383283	79327473	C C	CGTGGTTA others(953): Show CGTGGTTAGCGTGCTCTCCGTGGTTAGTGTGCTCTCTCCATGGTTAGCGT GCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTA ACGTGCCCTCCGTGGTTAGCGTGCCCTCCGTGGTTAGCGTGCCCTCCCTG GTTAGCGTGCTCTCCGTGTTTAGCATGCTCTCCGTGTTTAGCGTGCTCTC CGTGGTTAGCGTGCTCTCCGTGGTTAGTGTGCTCTCTCCATGGTTAGCGT GCTCGCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCTGTGGTTA ACGTGCTCTCCGTGGTTAGTGTGTTCTCCGTGGTTAGCGTGCTCTCCATG GTTAGCGTGCTCTCCATGGATAGTGTGCTCTCCGTGGTTAGCGTGCTCTC CGTGGGTAGCGTGCTCTCCGTGGGTAGCGTGCTCTCCGTGGTTAGCGTGC TCTCCGTGGTTAGCGTGCTCTCTCTGGTTAGCGTGCTCTCCGTGGTTAGC GTGCTCTCCGTGTTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGT TAGTGTGCTCTCTCCATGGTTAGCGTGCTCGCCGTGGTTAGCGTGCTCTC CGTGGTTAGCGTGCTCTCTGTGGTTAACGTGCTCTCCGTGGTTAGCGTGT TCTCCGTGGTTAGCGTGCTCTCCATGGTTAGCGTGCTCTCCATGGATAGC GTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGGTAGCGTGCTCTCTCTGGT TAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCTC TGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTC TCCGTGGTTAGCGTGCTCTCTCTGGTTAGCGTGCTCTCCGTGGTTAGCGT GCTCTCTGTGGTTAGCGTGCTCTCTGTGGTTAGCGTGCTCTCCGTGGATA GCGTGCTCTCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0001 a0004c0008t0001g0001	2	290	0.0069	960	c.177 others(979): Show c.1774-1569_1774-1568insACGTGCCCTCCGTGGTTAGCGTGCCC TCCGTGGTTAGCGTGCCCTCCCTGGTTAGCGTGCTCTCCGTGTTTAGCAT GCTCTCCGTGTTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTA GTGTGCTCTCTCCATGGTTAGCGTGCTCGCCGTGGTTAGCGTGCTCTCCG TGGTTAGCGTGCTCTCTGTGGTTAACGTGCTCTCCGTGGTTAGTGTGTTC TCCGTGGTTAGCGTGCTCTCCATGGTTAGCGTGCTCTCCATGGATAGTGT GCTCTCCGTGGTTAGCGTGCTCTCCGTGGGTAGCGTGCTCTCCGTGGGTA GCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCTCTG GTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGTTTAGCGTGCTCTC CGTGGTTAGCGTGCTCTCCGTGGTTAGTGTGCTCTCTCCATGGTTAGCGT GCTCGCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCTGTGGTTA ACGTGCTCTCCGTGGTTAGCGTGTTCTCCGTGGTTAGCGTGCTCTCCATG GTTAGCGTGCTCTCCATGGATAGCGTGCTCTCCGTGGTTAGCGTGCTCTC CGTGGGTAGCGTGCTCTCTCTGGTTAGCGTGCTCTCCGTGGTTAGCGTGC TCTCCGTGGTTAGCGTGCTCTCTCTGGTTAGCGTGCTCTCCGTGGTTAGC GTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCTCTGGT TAGCGTGCTCTCCGTGGTTAGCGTGCTCTCTGTGGTTAGCGTGCTCTCTG TGGTTAGCGTGCTCTCCGTGGATAGCGTGCTCTCTGTGGTTAGCGTGCTC TCCGTGGTTAGTGTGCTCTCTCCATGGTTAGCGTGCTCTCCGTGGTTAGC GTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTA		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79327473	C C	CGTGGTTA others(953): Show CGTGGTTAGCGTGCTCTCCGTGGTTAGTGTGCTCTCTCCATGGTTAGCGT GCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTA ACGTGCCCTCCGTGGTTAGCGTGCCCTCCGTGGTTAGCGTGCCCTCCCTG GTTAGCGTGCTCTCCGTGTTTAGCATGCTCTCCGTGTTTAGCGTGCTCTC CGTGGTTAGCGTGCTCTCCGTGGTTAGTGTGCTCTCTCCATGGTTAGCGT GCTCGCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCTGTGGTTA ACGTGCTCTCCGTGGTTAGTGTGTTCTCCGTGGTTAGCGTGCTCTCCATG GTTAGCGTGCTCTCCATGGATAGTGTGCTCTCCGTGGTTAGCGTGCTCTC CGTGGGTAGCGTGCTCTCCGTGGGTAGCGTGCTCTCCGTGGTTAGCGTGC TCTCCGTGGTTAGCGTGCTCTCTCTGGTTAGCGTGCTCTCCGTGGTTAGC GTGCTCTCCGTGTTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGT TAGTGTGCTCTCTCCATGGTTAGCGTGCTCGCCGTGGTTAGCGTGCTCTC CGTGGTTAGCGTGCTCTCTGTGGTTAACGTGCTCTCCGTGGTTAGTGTGT TCTCCGTGGTTAGCGTGCTCTCCATGGTTAGCGTGCTCTCCATGGATAGT GTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGGTAGCGTGCTCTCTCTGGT TAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCTC TGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTC TCCGTGGTTAGCGTGCTCTCTCTGGTTAGCGTGCTCTCCGTGGTTAGCGT GCTCTCTGTGGTTAGCGTGCTCTCTGTGGTTAGCGTGCTCTCCGTGGATA GCGTGCTCTCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02735.hp2 HG06807.hp2 others(2): Show HG00099.hp1 HG02735.hp2 HG06807.hp2 NA20752.hp2 NA20805.hp1	a0004 a0004	a0004c0008 a0004c0036 a0004c0008 a0004c0036	a0004c0008t0001 a0004c0036t0001 a0004c0008t0001 a0004c0036t0001	a0004c0008t0001g0269 a0004c0008t0001g0272 a0004c0008t0001g0274 others(2): Show a0004c0008t0001g0269 a0004c0008t0001g0272 a0004c0008t0001g0274 a0004c0008t0001g0275 a0004c0036t0001g0271	5	293	0.0171	960	c.177 others(979): Show c.1774-1569_1774-1568insACGTGCCCTCCGTGGTTAGCGTGCCC TCCGTGGTTAGCGTGCCCTCCCTGGTTAGCGTGCTCTCCGTGTTTAGCAT GCTCTCCGTGTTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTA GTGTGCTCTCTCCATGGTTAGCGTGCTCGCCGTGGTTAGCGTGCTCTCCG TGGTTAGCGTGCTCTCTGTGGTTAACGTGCTCTCCGTGGTTAGTGTGTTC TCCGTGGTTAGCGTGCTCTCCATGGTTAGCGTGCTCTCCATGGATAGTGT GCTCTCCGTGGTTAGCGTGCTCTCCGTGGGTAGCGTGCTCTCCGTGGGTA GCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCTCTG GTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGTTTAGCGTGCTCTC CGTGGTTAGCGTGCTCTCCGTGGTTAGTGTGCTCTCTCCATGGTTAGCGT GCTCGCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCTGTGGTTA ACGTGCTCTCCGTGGTTAGTGTGTTCTCCGTGGTTAGCGTGCTCTCCATG GTTAGCGTGCTCTCCATGGATAGTGTGCTCTCCGTGGTTAGCGTGCTCTC CGTGGGTAGCGTGCTCTCTCTGGTTAGCGTGCTCTCCGTGGTTAGCGTGC TCTCCGTGGTTAGCGTGCTCTCTCTGGTTAGCGTGCTCTCCGTGGTTAGC GTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCTCTGGT TAGCGTGCTCTCCGTGGTTAGCGTGCTCTCTGTGGTTAGCGTGCTCTCTG TGGTTAGCGTGCTCTCCGTGGATAGCGTGCTCTCTGTGGTTAGCGTGCTC TCCGTGGTTAGTGTGCTCTCTCCATGGTTAGCGTGCTCTCCGTGGTTAGC GTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTA		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCGTGCA others(953): Show TGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	223	0.0045	960	c.36 others(971): Show c.3604_*3605insGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGAC		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					3464		chr19	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCGTGCA others(953): Show TGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	223	0.0045	960	c.36 others(971): Show c.3604_*3605insGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGAC		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					3464		chr19	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(953): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGT GATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGG TAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTA GTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGT ATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0252 a0002c0002t0008g0252	1	66	0.0152	960	c.-25 others(971): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTACCA CCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACC TCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTC TTAATACTACCACCTCTTAATACTATCACCTCTTAATACTACCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ACCACCTCTTAATACTACCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTACCACCTC TTAATACTACCACCTCTTAATACTACCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTACCACCTCTTAATA CTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACT ACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTAC CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTAT		CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding					2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(953): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTA GTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAG GTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGT GGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGG TAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTA GTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGT ATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0067 a0003c0005t0002g0067	1	66	0.0152	960	c.-25 others(971): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCA CCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACC TCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTC TTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTT AATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAA TACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTAC CACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCA CCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTAT		CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding					2168		chr11	TogoVar
CFAP61_chr20_20047532_20365698	20320519	A A	AATATATG others(953): Show AATATATGTAATATATATTATATATGTAATATAATATATGTAATATATAT TATATATGTAATATATATTACATATATTATATATGCAATATATATTATAT ATATTATATATGCAATATATATTATATATATTATATATGCAATATATATT ATATATGCAATATATATTATATATATTATATATGCAATATATATTATATA TATTACATATGTAATATATATTACATATGTAATATATAATATATTATATA TTACATATGTAATATATAATATATATTACATATGTAATATATTATATATA TTACATATGTAATATATAATATATATTACATATGTAATATATTATATATT ACATATGTAATATATATAATATATTACATATGTAATATATAATATATTAT ATATGTAATATATATTACATATATAATATATATAATATATATGTAATATA TTATATATATTATATATGTAATATATATTACATATATAATATATATTATA TATATTACATATATTATATATGTAATATATATTACATATGTAATATATGT AATATATATTACATATGTAATATATATTACATATATTATATATGTAATAT ATATTATATATATTATATATGTAATGTATAATATATATATTATATATGTA ATATATATTATATATAATATATGTAATATATATTATATATGTAATGTATA TTATATATATTATATATGTAATGTATATTATATATAATATATGTAATGTA TATTATATATGTAATATATATTATATATATTATATATGTAATATATATTA TATATATTATATATGTAATATATATTATATATATTATATATGTAATATAT ATTATATATATTATATATGTAATATATATTATATATATTATATATGTAAT ATATATTATATATATTATATATGTAATATATATTATATATATTATATATG TAATATATATT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0024 a0024	a0024c0044 a0024c0044	a0024c0044t0001 a0024c0044t0001	a0024c0044t0001g0058 a0024c0044t0001g0058	1	177	0.0056	960	c.342 others(981): Show c.3423-21306_3423-21305insGTAATATATATTATATATGTAATA TAATATATGTAATATATATTATATATGTAATATATATTACATATATTATA TATGCAATATATATTATATATATTATATATGCAATATATATTATATATAT TATATATGCAATATATATTATATATGCAATATATATTATATATATTATAT ATGCAATATATATTATATATATTACATATGTAATATATATTACATATGTA ATATATAATATATTATATATTACATATGTAATATATAATATATATTACAT ATGTAATATATTATATATATTACATATGTAATATATAATATATATTACAT ATGTAATATATTATATATTACATATGTAATATATATAATATATTACATAT GTAATATATAATATATTATATATGTAATATATATTACATATATAATATAT ATAATATATATGTAATATATTATATATATTATATATGTAATATATATTAC ATATATAATATATATTATATATATTACATATATTATATATGTAATATATA TTACATATGTAATATATGTAATATATATTACATATGTAATATATATTACA TATATTATATATGTAATATATATTATATATATTATATATGTAATGTATAA TATATATATTATATATGTAATATATATTATATATAATATATGTAATATAT ATTATATATGTAATGTATATTATATATATTATATATGTAATGTATATTAT ATATAATATATGTAATGTATATTATATATGTAATATATATTATATATATT ATATATGTAATATATATTATATATATTATATATGTAATATATATTATATA TATTATATATGTAATATATATTATATATATTATATATGTAATATATATTA TATATATTATATATGTAATATATATTATATATATTATATATGTAATATAT ATTATATATATTATATATGTAATATATATTATATAT		CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26					INFO_REALIGN_3_PRIME	chr20	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CTCCCTCT others(953): Show CTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTTCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTC CCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTC TCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCT CCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCT CCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCC CTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCT CTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTC CCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCC CTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTC CACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCC TCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCC TCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCT CCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTC CCCTCTCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	68	0.0147	960	c.-42 others(971): Show c.-4215_-4214insTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCTCCACCTCCCCTCTCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTC CCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTC TCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTC CCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTC TCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCT CCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTC CTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGT CTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCT GTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACC TCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCC TCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTC CCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCC TCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCT CCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCT CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCT CCCTCTCTCCACCTCCCCTCTCTCTG		CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding					3932		chr19	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(953): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCC TCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCT CTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCC TGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCC TCTCCCCCTCTCCCTCTCCCCCCCCTCCCTCTCTCCCTCACGTCCTCTCT CTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCCCTCC TCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCTCTCT CTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTACCTCT CCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTCCTCT CTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCCCTCT CCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTCCCTCTCCCCCTCT CTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTGCCTCTCCTCCTCTCC CTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTCCCTCTCCCCATCT CCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCCCTT CTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCATCTCCCCCTCTTC TCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTCCTCTCCCTCTCTCCCTG TCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCCTTCTC CTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCTCCCCCTCCCT CTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	6	0.1667	960	c.380 others(977): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCA TCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCC CTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACA TCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCCCTCCCTCTCTC CCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTC CCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTC CCTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTC TCCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTC GTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTG TCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTC TCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTG CCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTT TCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTC CTCTCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCC CATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTCCT CTCCCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCC ATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTC CCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC		CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613670	T T	TCTCCCTC others(953): Show TCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTCTCCCTCTCTCCCTC TCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCCTCTCCCCTCTCCCT CTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCTCTCCCTCTCTCCTC CTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCCTGTCTCCCCCTCTC CTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCCTCTCCCCCTCTCCC TCTCCCCCTCCCTCTCTCCCTCTCCCTCACGTCCTCTCTCTCTCCCCCCT CCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCCCTCCTCCTCCCCCTC TCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCTCTCTCTCTCCCCCTC TCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTACCTCTCCCCCTCTACC TCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTCCTCTCTCTCTCCCCC TCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCCCTCTCCCCCTCCTCC TCTCCCTCTCCCCCTCCCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTC CCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTC TTCCCCTCTCCCCCTCTCCCTCTTTCCCTCTCCCCATCTCCCTCTCCCCC CCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCCCTCCCCCTCTCCCT TCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCTCT TCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTCCTCTCCCTCTCTCCC TGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCCTTC TCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCTCCCCCTCC CTCTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA20129.hp1 HG02622.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0006 a0001c0001t0001 a0002c0002t0006	a0001c0001t0001g0132 a0002c0002t0006g0031 a0001c0001t0001g0132 a0002c0002t0006g0031	2	316	0.0063	960	c.380 others(977): Show c.380-7759_380-7758insCTCCCTCTCCCTCACCTCCTCTCTCTCT CCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCC CCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTC CCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCT CTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCT CTCCCCCTCTCCCCCTCTCCCTCTCCCCCTCCCTCTCTCCCTCTCCCTCA CGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCT CTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCA CGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCT CTCTACCTCTCCCCCTCTACCTCTCCCCGTCTCCCTCTCTCCCTCGTCCT CTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCT CTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTCCCT CTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCT CCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTCCCT CTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTC CCTCTCCCTCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCC CTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCT CTCCTCCTCTCCCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCC TCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTC CCTCTCTCCCCCTCCCCCTCCCTCTCCCCCTC		CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10						chr1	TogoVar
CNTN5_chr11_99015949_100363885	99819302	T T	TCCCTCCC others(953): Show TCCCTCCCCTCTTCTCCCCTCCCCTCCCCTCCCCTCTTGTCCCCTCCCCT CTTCTCCCCTCCCCTCCCCTCCCCTCTTGTCCCCTCCTCTCTTCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCT CTCCTCCCCTCCCCTCTCCTCCCCTCTCCTCCCCTCCCCTCTCCTCTCCT CCCCTGTTCTCCCCTCCCCTCTCCTCCCCTGTTCTCCCCTCCCCTCCCCT CTTGTCCCCTCCCCTCCCCTCTTGTCCCCTCCCCTCCCCTCTTGTCCCCT CCCCTCTTCTCCCCTCCCCTCCCCTCTTGTCCCCTCCCCTCCCCTCTTGT CCCCTCCCCTCTTCTCCCCTCCCCTCCCCTCTTCTCCCCTCCCCTCCCGT CCCCTCCCCTCCCCTCCCGTCCCCTCCTCTCTTCTCCCCTCCCCTCCCCT CCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTCTCCTCCCCTCCCCT CTCCTCCCCTGTTCTCCCCTCCCCTCTCCTCCCCTGTTCTCCCCTCCCCT CTCCTCCCCTGTTCTCCCCTCCCCTCTCCTCCCCTGTTCTCCCCTCCCCT CTCCTCCCCTGTTCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCT CTCCTCTCTACTCCTCCCCTCTCCTCTCCTCCCCTCCCCTCCCCTCTCCT CTCCTCCCCTGTTCTCCCCTCTCCTCCCCTGTTCTCCCCTCCCCTCTCCT CCCCTGTTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCT CCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCTCCTCCCCT CTCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCCT CCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCTT CCCCTGTTCTC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0049 a0001c0001t0016g0049	1	32	0.0313	960	c.56- others(973): Show c.56-231_56-230insTCTCCCCTCCCCTCCCCTCCCCTCTTGTCCCC TCCCCTCTTCTCCCCTCCCCTCCCCTCCCCTCTTGTCCCCTCCTCTCTTC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCC TCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTCTCCTCCCCTCCCCTCTCC TCTCCTCCCCTGTTCTCCCCTCCCCTCTCCTCCCCTGTTCTCCCCTCCCC TCCCCTCTTGTCCCCTCCCCTCCCCTCTTGTCCCCTCCCCTCCCCTCTTG TCCCCTCCCCTCTTCTCCCCTCCCCTCCCCTCTTGTCCCCTCCCCTCCCC TCTTGTCCCCTCCCCTCTTCTCCCCTCCCCTCCCCTCTTCTCCCCTCCCC TCCCGTCCCCTCCCCTCCCCTCCCGTCCCCTCCTCTCTTCTCCCCTCCCC TCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTCTCCTCCCC TCCCCTCTCCTCCCCTGTTCTCCCCTCCCCTCTCCTCCCCTGTTCTCCCC TCCCCTCTCCTCCCCTGTTCTCCCCTCCCCTCTCCTCCCCTGTTCTCCCC TCCCCTCTCCTCCCCTGTTCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCC TCCCCTCTCCTCTCTACTCCTCCCCTCTCCTCTCCTCCCCTCCCCTCCCC TCTCCTCTCCTCCCCTGTTCTCCCCTCTCCTCCCCTGTTCTCCCCTCCCC TCTCCTCCCCTGTTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCCCC TCCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCTCC TCCCCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCTCC TCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCC TCTCTTCCCCTGTTCTCCCCTCCCCTCT		CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	3/24					INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99819302	T T	TCCCTCCC others(953): Show TCCCTCCCCTCTTCTCCCCTCCCCTCCCCTCCCCTCTTGTCCCCTCCCCT CTTCTCCCCTCCCCTCCCCTCCCCTCTTGTCCCCTCCTCTCTTCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCT CTCCTCCCCTCCCCTCTCCTCCCCTCTCCTCCCCTCCCCTCTCCTCTCCT CCCCTGTTCTCCCCTCCCCTCTCCTCCCCTGTTCTCCCCTCCCCTCCCCT CTTGTCCCCTCCCCTCCCCTCTTGTCCCCTCCCCTCCCCTCTTGTCCCCT CCCCTCTTCTCCCCTCCCCTCCCCTCTTGTCCCCTCCCCTCCCCTCTTGT CCCCTCCCCTCTTCTCCCCTCCCCTCCCCTCTTCTCCCCTCCCCTCCCGT CCCCTCCCCTCCCCTCCCGTCCCCTCCTCTCTTCTCCCCTCCCCTCCCCT CCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTCTCCTCCCCTCCCCT CTCCTCCCCTGTTCTCCCCTCCCCTCTCCTCCCCTGTTCTCCCCTCCCCT CTCCTCCCCTGTTCTCCCCTCCCCTCTCCTCCCCTGTTCTCCCCTCCCCT CTCCTCCCCTGTTCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCT CTCCTCTCTACTCCTCCCCTCTCCTCTCCTCCCCTCCCCTCCCCTCTCCT CTCCTCCCCTGTTCTCCCCTCTCCTCCCCTGTTCTCCCCTCCCCTCTCCT CCCCTGTTCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCT CCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCCCCT CTCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCCT CCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCTT CCCCTGTTCTC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0015 a0003c0003t0002g0015	1	32	0.0313	960	c.56- others(973): Show c.56-231_56-230insTCTCCCCTCCCCTCCCCTCCCCTCTTGTCCCC TCCCCTCTTCTCCCCTCCCCTCCCCTCCCCTCTTGTCCCCTCCTCTCTTC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCC TCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTCTCCTCCCCTCCCCTCTCC TCTCCTCCCCTGTTCTCCCCTCCCCTCTCCTCCCCTGTTCTCCCCTCCCC TCCCCTCTTGTCCCCTCCCCTCCCCTCTTGTCCCCTCCCCTCCCCTCTTG TCCCCTCCCCTCTTCTCCCCTCCCCTCCCCTCTTGTCCCCTCCCCTCCCC TCTTGTCCCCTCCCCTCTTCTCCCCTCCCCTCCCCTCTTCTCCCCTCCCC TCCCGTCCCCTCCCCTCCCCTCCCGTCCCCTCCTCTCTTCTCCCCTCCCC TCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTCTCCTCCCC TCCCCTCTCCTCCCCTGTTCTCCCCTCCCCTCTCCTCCCCTGTTCTCCCC TCCCCTCTCCTCCCCTGTTCTCCCCTCCCCTCTCCTCCCCTGTTCTCCCC TCCCCTCTCCTCCCCTGTTCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCC TCCCCTCTCCTCTCTACTCCTCCCCTCTCCTCTCCTCCCCTCCCCTCCCC TCTCCTCTCCTCCCCTGTTCTCCCCTCTCCTCCCCTGTTCTCCCCTCCCC TCTCCTCCCCTGTTCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCC TCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCC TCCCCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCTCC TCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCC TCTCTTCCCCTGTTCTCCCCTCCCCTCT		CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	3/24					INFO_REALIGN_3_PRIME	chr11	TogoVar
COL4A2_chr13_110302284_110518209	110385428	A A	ACAGTGTG others(953): Show ACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTAC AGTGTGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTG CGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCTGTGGTTACAGTGTG TGGATAGACTGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTGTGTG GATAGGCCGTGGTTACAGTGCGTGGATAGACTGTGGTTACAGTGTCTGGA TAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATA GGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGG CCGTGGTTACAGCGTGTGGATAGACCGTGGTTACAGCGTGTGGATAGGCT GTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGGCCGT GGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGG TTACAGCGTGTCGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGGTC ACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGGTTAC AGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAG TGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTG CGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTG TGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTGTGTG GATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTGGA TAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATA GACCGTGGCTG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0275 a0001c0002t0004g0275	1	369	0.0027	960	c.180 others(979): Show c.180+27881_180+27882insTGTGGATAGGCCGTGGTTACAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATAGACCGTGGTTACAGTGTGTG GATAGGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGA TAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATA GGCTGTGGTTACAGTGTGTGGATAGACTGTGGTTACAGTGCGTGGATAGA CCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACT GTGGTTACAGTGTCTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGT GGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGG TTACAGTGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGACCGTGGTT ACAGCGTGTGGATAGGCTGTGGTTACAGCGTGTGGATAGGCCGTGGTTAC AGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAG CGTGTGGATAGGCCGTGGTTACAGCGTGTCGATGGGCCGTGGTCACAGCG TGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTG TGGATGGGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTG GATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGA TAGACCGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATA GGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGA CCGTGGTTACAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCC GTGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGT GGCTGCAGTGTGTGGATAGACCGTGGCTGCAGTG		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385930	T T	TTACAGTG others(953): Show TTACAGTGTGTGGATGGGCCGTGGCTGCAGTGTGTGGATGGGCCGTGGTT ACAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTAC AGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAG TGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATGGGCCGTGGTTACAGCG TGTGGATGGGCCGTGGTTACAGCGTGTGGATGGGCCGTGGTTACAGTGTG TGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTG GATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGA TAGGCCGTGGTTACAGTGTGTGGATAGACTGTGGTTACAGTGTGTGGATA GGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGA CCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCC GTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGT GGTTACAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGG TTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTT ACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGCTGC AGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTG TGTGGATAGGCCGTGGCTACAGTGTGTGGATGGGCCGTGGTTACAGTGTG TGGATGGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTG GATGGGCCGTGGCTACAGTGTGTGGATGGACCGTGGCTACAGTGTGTGGA TGGGCCGTGGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0002 a0004c0012t0002	a0004c0012t0002g0277 a0004c0012t0002g0277	1	184	0.0054	960	c.180 others(979): Show c.180+28383_180+28384insTGTGTGGATGGGCCGTGGCTGCAGTG TGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGTGTG TGGATGGACCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTG GATGGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGA TGGGCCGTGGTTACAGCGTGTGGATGGGCCGTGGTTACAGCGTGTGGATG GGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGG CCGTGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCC GTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGACTGT GGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGG TTACAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTT ACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTAC AGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGCTGCAG TGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTG TGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTG TGGATGGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTG GATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGA TAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGCTACAGTGTGTGGATG GGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGA CCGTGGTTACAGTGTGTGGATGGGCCGTGGCTACAGTGTGTGGATGGACC GTGGCTACAGTGTGTGGATGGGCCGTGGCTACAG		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385930	T T	TTACAGTG others(953): Show TTACAGTGTGTGGATGGGCCGTGGCTGCAGTGTGTGGATGGGCCGTGGTT ACAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTAC AGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGCTGCAG TGTGTGGATGGGCCGTGGTTACAGCGTGTGGATGGGCCGTGGTTACAGCG TGTGGATGGGCCGTGGTTACAGCGTGTGGATGGGCCGTGGTTGCAGTGTG TGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTG GATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGA TAGACTGTGGTTACAGTGTGTGGATAGACTGTGGTTACAGTGTGTGGATA GGCCGTGGTTACAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGG CCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACC GTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGT GGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGG TTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATGGACCGTGGTT ACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGCTGC AGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTG TGTGGATAGGCCGTGGCTACAGTGTGTGGATGGGCCGTGGTTACAGTGTG TGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGCTACAGTGTGTG GATGGGCCGTGGCTACAGTGTGTGGATGGACCGTGGCTACAGTGTGTGGA TGGGCCGTGGC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0004 a0003c0010t0004	a0003c0010t0004g0268 a0003c0010t0004g0268	1	184	0.0054	960	c.180 others(979): Show c.180+28383_180+28384insTGTGTGGATGGGCCGTGGCTGCAGTG TGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGTGTG TGGATGGACCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGTGTGTG GATAGGCCGTGGCTGCAGTGTGTGGATGGGCCGTGGTTACAGCGTGTGGA TGGGCCGTGGTTACAGCGTGTGGATGGGCCGTGGTTACAGCGTGTGGATG GGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGG CCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCC GTGGTTACAGTGTGTGGATAGACTGTGGTTACAGTGTGTGGATAGACTGT GGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGG CTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTT ACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTAC AGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTG TGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTG TGGATGGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTG GATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGA TAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGCTACAGTGTGTGGATG GGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGG CCGTGGCTACAGTGTGTGGATGGGCCGTGGCTACAGTGTGTGGATGGACC GTGGCTACAGTGTGTGGATGGGCCGTGGCTACAG		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385930	T T	TTACAGTG others(953): Show TTACAGTGTGTGGATGGGCCGTGGCTGCAGTGTGTGGATGGGCCGTGGTT ACAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTAC AGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGCTGCAG TGTGTGGATGGGCCGTGGTTACAGCGTGTGGATGGGCCGTGGTTACAGCG TGTGGATGGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTGCAGTGTG TGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTG GATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGA TAGACTGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATA GGCCGTGGTTACAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGG CCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACC GTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGT GGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGG TTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTT ACAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGACCGTGGCTGC AGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTG TGTGGATAGGCCGTGGCTACAGTGTGTGGATGGGCCGTGGTTACAGTGTG TGGATGGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTG GATGGGCCGTGGCTACAGTGTGTGGATGGACCGTGGCTACAGTGTGTGGA TGGGCCGTGGC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0012 a0001c0002t0008g0012	1	184	0.0054	960	c.180 others(979): Show c.180+28383_180+28384insTGTGTGGATGGGCCGTGGCTGCAGTG TGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGTGTG TGGATGGACCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGTGTGTG GATAGGCCGTGGCTGCAGTGTGTGGATGGGCCGTGGTTACAGCGTGTGGA TGGGCCGTGGTTACAGCGTGTGGATGGGCCGTGGTTACAGTGTGTGGATA GGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGG CCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCC GTGGTTACAGTGTGTGGATAGACTGTGGTTACAGTGTGTGGATAGGCCGT GGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGACCGTGG CTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTT ACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTAC AGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAG TGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTG TGTGGATAGGCCGTGGTTACAGTGTGTGGATAGACCGTGGCTGCAGTGTG TGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTG GATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGA TAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGCTACAGTGTGTGGATG GGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGA CCGTGGTTACAGTGTGTGGATGGGCCGTGGCTACAGTGTGTGGATGGACC GTGGCTACAGTGTGTGGATGGGCCGTGGCTACAG		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COMMD9_chr11_36267292_36294424	36287125	A A	ACTATGTA others(953): Show ACTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAG TATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTA TGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATG TATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTA CATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATA CTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATC ATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTAC ATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATAT AGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGC TATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTA TGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATG TACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTA TACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACA TCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACT ACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCAT ATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACAT GCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAG TATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTA TGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATG TATACTACATG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02735.hp2 HG01891.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0103 a0001c0001t0002g0020 a0001c0001t0002g0103	2	349	0.0057	960	c.51+ others(975): Show c.51+2236_51+2237insCATGTAGTATACATACTATATGATGTACAT AGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATAC TATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCA TGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATA TGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTAT ACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTAC ATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACAT ACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAG CATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTA TATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATG TAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATG ATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGT ATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGT ACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATAC ATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACAT AGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATAC TATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCA TGTAGTATACATACTATATGATGTACATAG		COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5						chr11	TogoVar
CYP4F11_chr19_15907377_15939529	15933085	G G	GAGAGGAA others(953): Show GAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGAG GAGAGGAGTGAGTGAGCGAGCAGAGGAGTGAGTGAGCGAGCAGAGGAGTG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGG CAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG CAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG CAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGG GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGGAGAGGAGTGAGTGAGCGAGGAGAGGAGTGAGTGAGCGAG CAGAGGAGTGAGTGAGCGAGAAGAGGAGTGAGTGAGCGAGAAGAGGAGTG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0358 a0002c0001t0002g0358	1	330	0.0030	960	c.198 others(977): Show c.198+1125_198+1126insGCCCGCTCACTCATTCCTCTGCCCGCTC ACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCACTCCTCTTCTCGCTC ACTCACTCCTCTTCTCGCTCACTCACTCCTCTGCTCGCTCACTCACTCCT CTCCTCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTC ACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCT CTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTC ACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTCCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTC ACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCT CTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTC ACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTC ACTCATTCCTCTCCTCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCT CTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTC ACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCT CTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCACTCCTCTGCTCGCTC ACTCACTCCTCTGCTCGCTCACTCACTCCTCTCCTCGCTCACTCACTCCT CTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTC ACTCATTCCTCTGCCCGCTCACTCATTCCTCT		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933465	G G	GAGAGGAA others(953): Show GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG CAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGG CAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGG GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGAGCAGAGGAGTG AGTGAGCGAGCAGAGGAGTGAGTGAGCGAGCAGAGGAGTGAGTGAGCGAG CAGAGGAATGAGTGAGCGAGAAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGG CAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGG CAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGC	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0033 a0002c0001t0033	a0002c0001t0033g0352 a0002c0001t0033g0352	1	355	0.0028	960	c.198 others(975): Show c.198+745_198+746insGCCCGCTCACTCATTCCTCTGCCCGCTCAC TCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCT GCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCT GCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCAC TCATTCCTCTTCTCGCTCACTCATTCCTCTGCTCGCTCACTCACTCCTCT GCTCGCTCACTCACTCCTCTGCTCGCTCACTCACTCCTCTGCTCGCTCAC TCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCT CCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCAC TCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCT GCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCAC TCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCT		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
DGKB_chr7_14140049_14907751	14212196	T T	TTTTACTC others(953): Show TTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTAC TCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATG TTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGT GATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTT ACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCA TGTTTTGTGATATTTACTCTCATGTTTTGTGATGTTTACTCTCATGTTTT GTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATAT TTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCT CATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTT TTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGA TATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTA CTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCAT GTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTG TGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATAT TTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTC TCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTT TTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGAT ATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTAC TCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCAT GTTTTGTGATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0083 a0001c0003t0004g0083	1	111	0.0090	960	c.212 others(981): Show c.2123-34046_2123-34045insTATCACAAAACATGAGAGTAAATA TCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAATATCACAA AACATGAGAGTAAATATCACAAAACATGAGAGTAAATATCACAAAACATG AGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAACATGAGAGTAA ATATCACAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAATATCAC AAAACATGAGAGTAAATATCACAAAACATGAGAGTAAATATCACAAAACA TGAGAGTAAATATCACAAAACATGAGAGTAAATATCACAAAACATGAGAG TAAATATCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAAAT CACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAATATCACAAA ACATGAGAGTAAATATCACAAAACATGAGAGTAAATATCACAAAACATGA GAGTAAATATCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAA ATATCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAATATCA CAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAATATCACAAAACA TGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAACATGAGAGT AAACATCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAATAT CACAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAATATCACAAAA CATGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAACATGAGA GTAAATATCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAAA TCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAATATCACAA AACATGAGAGTAAATATCACAAAACATGAGAGTAAA		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25						chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377500	T T	TGCTGTGT others(953): Show TGCTGTGTTGTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGC GAGCTCTTCTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCAAGGAG GAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTGTGTGAATGACCC TGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGATGCTGTGT TGTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTT CTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGC AGGCGCGAGCTCTTCTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTC ATGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGATGCTGTGTTGTGTGAA TGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAG CTGTGTTGTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGA GCTCTTCTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCATGGAGGA AGGAGCAGGCGCGAGCTCTTCTGGGATGCTGTGTTGTGTGAATGACCCTG GGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCTGTGTTG TGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCTCTTCT GGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAG GCGCGAGCTCTTCTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCAT GGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGATGCTGTGTTGTGTGAATG ACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGATGCT GTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGT GCTGCTGGGAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0027 a0001c0005t0001g0027	1	370	0.0027	960	c.215 others(977): Show c.2154+455_2154+456insTGGAGGAAGGAGCAGGCGCGAGCTCTTC TGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCA GGCGCGAGCGCTCCTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCA AGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGATGCTGTGTTGTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGATGC TGTGTTGTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTTCTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCTCTTCTGGGATGCTGTGTTGTGTGAATGACCCTGG GTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCTGTGTTGT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTTCTG GGATGCTGTGTTGTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCTCTTCTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCAAG GAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCTGTGTTGTGTGAATGA CCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGATGCTG TGTTGTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCT CTTCTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCATGGAGGAAGG AGCAGGCGCGAGCTCTTCTGGGATGCTGTGTTGTGTGAATGACCCTGGGT GTCATGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGATGCTGTGTTGTGT GAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGTGCTGCTGGG AAGCTGTGTTGTGTGAATGACCCTGGGTGTCA		EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377531	A A	AGGAGGAA others(953): Show AGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTTCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATG GAGGAAGGAGCAGGCGCGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGA CCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTG TGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCT CTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGG AGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGT GTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGG AATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACC CTGGGTGTCAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	264	0.0038	960	c.215 others(977): Show c.2154+472_2154+473insGCGAGCGCTCCTGGGATGCTGTGTTCTG TGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGG GAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGC GCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGG AGGAAGGAGCAGGCGCGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGAC CCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGT GTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTC TTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGA GCAGGCGCGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTG TCATGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGAATCCGTGTTCTGTG AATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGA TGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGC GAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAG GAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCC TGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGT TCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTC CTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGC AGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTC ATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAA TGACCCTGGGTGTCATGGAGGAAGGAGCAGGC		EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377567	T T	TGTGTTCT others(953): Show TGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCAAGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTTCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATG GAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGA CCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTG TGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCT CTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGG AGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGT GTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGG AATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACC CTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTG TTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCT CCTGGGAATCC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0126 a0001c0001t0001g0128	2	272	0.0074	960	c.215 others(977): Show c.2154+583_2154+584insTGGAGGAAGGAGCAGGCGCGAGCTCTCC TGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCA GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGC TGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTG GGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATG GAGGAAGGAGCAGGCGCGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGA CCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTG TGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCT CTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGG AGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGT GTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGG AATCCGTGTTCTGTGAATGACCCTGGGTGTCA		EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377659	A A	AGGAGGAA others(953): Show AGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGAAGCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAA GGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATG GAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGA CCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTG TGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCT CTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGG AGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGT GTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGG AATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCGCTCCTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACC CTGGGTGTCAT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0007 a0001c0003t0001g0007	1	139	0.0072	960	c.215 others(977): Show c.2154+606_2154+607insTCTCCTGGGAATCCGTGTTCTGTGAATG ACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCC GTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGC GCTCCTGGGAAGCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAG GAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGG TGTCATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTG TGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGG GAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGC GCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGG AGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGAC CCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGT GTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTC TCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGA GCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTG TCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTG AATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGA ATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGC GAGCGCTCCTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCATGGAG GAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCC TGGGTGTCATGGAGGAAGGAGCAGGCGCGAGC		EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
EML1_chr14_99788413_99947060	99928008	G G	GTGATGGT others(953): Show GTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGA GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTG GTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTG ATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGT GGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGT GATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0282 a0001c0003t0001g0282	1	230	0.0043	960	c.190 others(979): Show c.1909+7133_1909+7134insATGGTGGTGGTGGTGATGGTGGTGGT GGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATG GTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGAGGTGATGGTGGTGATGGTGGTGGTGGTGATGGT GGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGA TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGG TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGAT GGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGAGGTGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGA GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATG		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
FOXP1_chr3_70949708_71588728	71435687	G G	GGGACGGA others(953): Show GGGACGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGGA GGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGG GAGGGAAGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAAGGA GGGAAGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAAGGAGGGACGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGG GAGGGAAGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGA GGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGA GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGACGGAGGGAGG GAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGA CGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGG GAGGAAGGGACGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGAAGGGA CGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGG GAAGGAGGGAAGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGA CGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGG GAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGA CGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGG GAAGAAGGGAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19043.hp1 HG01884.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0036 a0001c0001t0024 a0001c0001t0036	a0001c0001t0024g0056 a0001c0001t0036g0048 a0001c0001t0024g0056 a0001c0001t0036g0048	2	12	0.1667	960	c.-16 others(981): Show c.-168+57738_-168+57739insGTCCCTTCTTCCCTCCCTCCGTCC CTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCT CCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCC CTTCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCT CCCTCCGTCCCTTCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCCGTCC CTTCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCT CCCTCCTTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCC CTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCCTCCCT CCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCC CTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCT CCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCC CTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCT CCGTCCCTCCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTC TTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCT CCTTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTC CTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCT CCGTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCC TTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCT CCGTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTC CTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCCGTCC		FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20						chr3	TogoVar
GALR1_chr18_77244848_77282900	77252986	C C	CCACCACC others(953): Show CCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCAC CACCACCACCACCACCACCACCACCACCATCACCACCACCATCACCACCA TCACCACCACCACCATCACCACCACCACCACCACCATCACCACCACCACC ACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCAC CACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCA CCACCATCACCACCACCACCATCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCAC CATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCA TCACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCACC ACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCAC CACCATCACCACCATCACCACCACCACCATCACCACCACCACCATCACCA CCATCACCACCACCACCATCACCACCACCACCACCACCACCACCACCATC ACCACCACCACCATCACCACCACCACCATCACCACCATCACCACCACCAC CACCACCACCACCACCACCATCACCACCACCACCATCACCACCATCACCA CCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCATC ACCACCATCACCACCACCACCACCACCATCACCACCATCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACC ATCACCACCAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0006 a0001c0002t0032g0006	1	346	0.0029	960	c.666 others(977): Show c.666+1774_666+1775insCCACCACCACCACCATCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATC ACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCAC CACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCA CCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCACC ACCATCACCACCACCACCATCACCACCACCACCATCACCACCATCACCAC CACCACCATCACCACCACCACCACCACCACCACCACCACCACCATCACCA CCATCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATC ACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCAC CACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCATCA CCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCACC ACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCACCAC CACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCATCA CCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCACCAC CACCACCATCACCACCACCATCACCACCATCA		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
GAS6_chr13_113815549_113869076	113817317	T T	TCCTCCCC others(953): Show TCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCC CTCCCCCCACGGGACACATCCCTCCTCCCCCCACGGGACACATCCCCCCT CCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCC CCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCT CCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCC ACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAG GGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGG GACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGA CACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCAGGGGACA CATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACA TCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATC CCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACACATCCC CCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCC CTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCT CCCTCCTCAGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCC CCCCACGGGACACATCCCCCCTCCCCCCAGGGGACACATCCCCCCTCCCT CCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCC ACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAG GGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGG GACACATCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0022 a0002c0005t0001g0022	1	58	0.0172	960	c.35 others(971): Show c.3546_*3547insGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGC CCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGTATGTGTCC CGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCC TGGAGGGAGGGGGGATGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCCTG GGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCCTGGA GGGAGGGGGGATGTGCCCTGAGGAGGGAGGGGGGATGTGTCCCGTGGGGG GAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCCTGGAGGGA GGGGGGATGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGG GGGTATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGG GGATGTGTCCCCTGGAGGGAGGGGGGATGTGCCCCGAGGAGGGAGGGGGG ATGTGTCCCCTGGAGGGAGGGGGTATGTGTCCCCTGGGGGGAGGGGGGAT GTGTCCCGTGGGGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGT GCCCCGAGGAGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGT CCCGTGGGGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGTCC CGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCG AGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGTCCCGTG GGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGAGGA GGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGTCCCGTGGGGG GAGGAGGGATGTGTCCCGTGGGGGGAGGGGGTATGTGTCCCGTGGGGGGA GGGGGGATGTGTCCCGTGGGGGGAGG		GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding					3231		chr13	TogoVar
GAS6_chr13_113815549_113869076	113824415	C C	CGCGCGGT others(953): Show CGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTG AGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCG CGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCT GTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGT CTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCG GGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGG GGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAG CACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTC TGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACG CGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAG CTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCG GTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGT CGGGAGCACGCGAGGTCTGGGGTCTGAGCTGTCGGGAGCACCCGCGGTCT GGGGTCTGAGCTGTCGGGAGCACGCGAGGTCTGGGGTCTGAGCTGTCGGG AGCACCCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACCCGCGGTCTGGGG TCTGAGCTGTCGGGAGCACCCGCGGTCTGGGGTCTGAGCTGTCGGGAGCA CCCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACCTATGGTCTGGGGTCTG AGCTGTCGGGAGCACGCGCAGTCTGGGGTCTGAGCTGTCGGGAGCACGCG GGGTCTGGGGTCTGAGCTGTCGGGAGCACCTGCGGTCTGGGGTCTGAGCT GTCGGGAGCAT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0004 a0001c0003t0005g0004	1	79	0.0127	960	c.147 others(977): Show c.1478-866_1478-865insATGCTCCCGACAGCTCAGACCCCAGACC GCAGGTGCTCCCGACAGCTCAGACCCCAGACCCCGCGTGCTCCCGACAGC TCAGACCCCAGACTGCGCGTGCTCCCGACAGCTCAGACCCCAGACCATAG GTGCTCCCGACAGCTCAGACCCCAGACCGCGGGTGCTCCCGACAGCTCAG ACCCCAGACCGCGGGTGCTCCCGACAGCTCAGACCCCAGACCGCGGGTGC TCCCGACAGCTCAGACCCCAGACCGCGGGTGCTCCCGACAGCTCAGACCC CAGACCTCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGGGTGCTCCC GACAGCTCAGACCCCAGACCTCGCGTGCTCCCGACAGCTCAGACCCCAGA CCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACA GCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGC GCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTC AGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGT GCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGAC CCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTC CCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCA GACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGA CAGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACC GCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGC TCAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGC GTGCTCCCGACAGCTCAGACCCCAGACCGCGC		GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14						chr13	TogoVar
GMDS_chr6_1618806_2250605	2201390	A A	AAACCATC others(953): Show AAACCATCTAGGCAGTGAGGGCAGCATGTTAGCAGAGAGGTGAAGGATGA AGAGAGAGCACCACATGCACATCTGAGATGAAACCATCTAGGCAGTGAGG GCAGCATGTTAGCAGAGAGGTGAAGGATGAAGAGAGAGCACCACATGGGC ATCCGAGATGAAACCATCTAGGCAGTGAGGGCAGCATGTTAGCAGAGAGG TGAAGGATGAAGACAGAACACCACATGGACATCCGAGATGAAACCATCTA GGCAGTGAGGGCAGCATGTTAGCAGAGAGGTGAAGGATGAAGAGAGAGCA CCACATGGGCATCCGAGATGAAACCATCTAGGCAGTGAGGGCAGCATGTT AGCAGAGAGGTGAAGGATGAAGACAGAGCACCACATGGGCATCCGAGATG TAACCATCTAGGCAGTGAGGACAGCATGTTAGCAGAGAGGCGAAGGATGA AGAGAGAGCACCACATGGGCATCCGAGATGAAACCATCTAGGCAGTGAGG GCAGCATGTTAGCAGGGAGGTGAAGGATGAAGAGAGAGCACCACATGGAC ATCCGAGATGAAACCATCTAGGCAGTGAGGGCAGCATGTTAGCAGAGAGG TGAAGGATGAAGAGAGAGCACCACATGGGCATCCGAGATGAAACCATCTA GGCAGTGAGGGCAGCGCGTTAGCAGAGAGGTGAAGGATGAAGAGAGAGCA CCACATGCACATCCGAGATGTAACCATCTAGGCAGTGAGGGCAGCATGTT AGCAGAGAGGTGAAGGATGAAGAGAGAGCACCACATGGACATCCGAGATG TAACCATCTAGGCAGTGAGGGCAGCATGTTAGCAGAGAGGTGAAGGATGA AGAGAGAGCACCACATGCACATCTGAGATGAAACCATCTAGGCAGTGAGG GCAGCATGTTAGCAGAGAGGTGAAGGATGAAGAGAGAGCACCACATGGAC ATCCGAGATGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02723.hp1 HG02970.hp1 others(2): Show HG02486.hp1 HG02723.hp1 HG02970.hp1 HG03195.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0084 a0001c0001t0002g0085 a0001c0001t0002g0089 others(2): Show a0001c0001t0001g0084 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0002t0001g0090 a0001c0002t0001g0116	5	159	0.0314	960	c.102 others(979): Show c.102+43930_102+43931insACATCTCGGATGTCCATGTGGTGCTC TCTCTTCATCCTTCACCTCTCTGCTAACATGCTGCCCTCACTGCCTAGAT GGTTTCATCTCAGATGTGCATGTGGTGCTCTCTCTTCATCCTTCACCTCT CTGCTAACATGCTGCCCTCACTGCCTAGATGGTTACATCTCGGATGTCCA TGTGGTGCTCTCTCTTCATCCTTCACCTCTCTGCTAACATGCTGCCCTCA CTGCCTAGATGGTTACATCTCGGATGTGCATGTGGTGCTCTCTCTTCATC CTTCACCTCTCTGCTAACGCGCTGCCCTCACTGCCTAGATGGTTTCATCT CGGATGCCCATGTGGTGCTCTCTCTTCATCCTTCACCTCTCTGCTAACAT GCTGCCCTCACTGCCTAGATGGTTTCATCTCGGATGTCCATGTGGTGCTC TCTCTTCATCCTTCACCTCCCTGCTAACATGCTGCCCTCACTGCCTAGAT GGTTTCATCTCGGATGCCCATGTGGTGCTCTCTCTTCATCCTTCGCCTCT CTGCTAACATGCTGTCCTCACTGCCTAGATGGTTACATCTCGGATGCCCA TGTGGTGCTCTGTCTTCATCCTTCACCTCTCTGCTAACATGCTGCCCTCA CTGCCTAGATGGTTTCATCTCGGATGCCCATGTGGTGCTCTCTCTTCATC CTTCACCTCTCTGCTAACATGCTGCCCTCACTGCCTAGATGGTTTCATCT CGGATGTCCATGTGGTGTTCTGTCTTCATCCTTCACCTCTCTGCTAACAT GCTGCCCTCACTGCCTAGATGGTTTCATCTCGGATGCCCATGTGGTGCTC TCTCTTCATCCTTCACCTCTCTGCTAACATGCTGCCCTCACTGCCTAGAT GGTTTCATCTCAGATGTGCATGTGGTGCTCTCTCTTCATCCTTCACCTCT CTGCTAACATGCTGCCCTCACTGCCTAGATGGTT		GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	1/10						chr6	TogoVar
HPCAL1_chr2_10297904_10432604	10399220	C C	CCACCACC others(953): Show CCACCACCACCGCCGCTGCCGCTACCACCATCACCACCGCCACCACCACC ACCACCATCACCACCACCACCATCACCACCACCACCACCATCACCACCAC CATCACCATCATCACCGCCACCACCACCACCACCACCACCACCACCACCA TCACCACCACCATCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCACCACCACCACCATCACCACCATCACCACCACCATCATCACCAC CATCACCACCACCACCACCACCACCATCACCACCACCACCATCACCATCA TCACCACCACCACCACCATCACCACCACCACCACCACCATCACCACCACC ACCACCACCATCACCACCACCATCACCACCACCACCACCACCATCACCAC CACCACCACCACCATCACCACCATCACCACCACCATCATCACCACCATCA CCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCACC ACCATCACCACCACCATCACCATCATCACCACCACCACCACCACCATCAC CACCACCATCACCATCACCATCACCATCACCACCACCATCATCACCACCA CCACCACCGCCACCACCACCACCATCACCACCACCACCACCACCACCATC ACCACCACCATCATCACCACCATCACCACCACCACCATCACCACCACCAC CACCATCACCACCACCATCACCATCATCACCGCCACCACCACCACCATCA CCACCACCATCACCACCACCACCACCATCACCACCACCATCACCATCATC ACCGCCACCACCACCACCACCACCACCACCACCACCATCACCACCACCAT CACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCA CCATCACCACCATCACCACCACCATCATCACCACCATCACCACCACCACC ACCACCACCAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA20300.hp2 HG02809.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0112 a0001c0001t0005g0273 a0001c0001t0003g0112 a0001c0001t0005g0273	2	289	0.0069	960	c.-25 others(977): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCG CCACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCACC ATCACCACCACCATCACCATCATCACCGCCACCACCACCACCACCACCAC CACCACCACCATCACCACCACCATCACCACCACCATCACCACCACCACCA CCACCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACC ATCATCACCACCATCACCACCACCACCACCACCACCATCACCACCACCAC CATCACCATCATCACCACCACCACCACCATCACCACCACCACCACCACCA TCACCACCACCACCACCACCATCACCACCACCATCACCACCACCACCACC ACCATCACCACCACCACCACCACCATCACCACCATCACCACCACCATCAT CACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCATCA CCACCACCACCACCATCACCACCACCATCACCATCATCACCACCACCACC ACCACCATCACCACCACCATCACCATCACCATCACCATCACCACCACCAT CATCACCACCACCACCACCGCCACCACCACCACCATCACCACCACCACCA CCACCACCATCACCACCACCATCATCACCACCATCACCACCACCACCATC ACCACCACCACCACCATCACCACCACCATCACCATCATCACCGCCACCAC CACCACCATCACCACCACCATCACCACCACCACCACCATCACCACCACCA TCACCATCATCACCGCCACCACCACCACCACCACCACCACCACCACCATC ACCACCACCATCACCACCACCATCACCACCACCACCACCACCACCACCAC CACCACCACCACCATCACCACCATCACCACCACCATCATCACCACCATCA CCACCACCACCACCACCACCATCACCACCACC		HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
IFNAR1_chr21_33319970_33364864	33323045	C C	CGTATGGA others(953): Show CGTATGGAATATATATATGGAATATATACGTATGGAATATATATATGGAA TATATACGTATGGAATATATATATATGGAATATATACGTATGGAATATAT ATATGGAATATATACGTATGGAATATATATATATGGAATATATACGTATG GAATATATATATATGGAATATATACGTATGGAATATATATATATGGAATA TATACGTATGGAATATATATATGGAATATATACGTATGGAATATATATAT GGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAATAT ATATATATATGGAATATACGTATGGAATATATATATATGGAATATACGTA TGGAATATATATATATGGAATATACGTATGGAATATATATATATGGAATA TATATGTATGGAATATATATATGGAATATATATGTATGGAATATATATAT GGAATATATATATATGGAATATATATGTATGGAATATATATATATGGAAT ATATGTATGGAATATATATGTATGGAATATATATATGGAATATATATGTA TGGAATATATATATGGAATATATATGTATGGAATATATATATGGAATATA TATATGGAATATATATATGGAATATATATATGGAATATATATATGGAATA TATATATGGAATATATATGTATGGAATATATATATGGAATATATATGTAT GGAATATACATATGGAATATATATGTATGGAATATACATATGGAATATAT ATGTATGGAATATACATATGGAATATATATGTATGGAATATATATATATG GAATATATGTATGGAATATATATATGGAATATATGTATGGAATATATATA TATGGAATATATGTATGGAATATATATATATGGAATATATGTATGGAATA TATATATATGGAATATATGTATGGAATATATATATATGGAATATATGTAT GGAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0200 a0002c0002t0002g0200	1	100	0.0100	960	c.-20 others(971): Show c.-2011_-2010insGTATGGAATATATATATGGAATATATACGTATGG AATATATATATGGAATATATACGTATGGAATATATATATATGGAATATAT ACGTATGGAATATATATATGGAATATATACGTATGGAATATATATATATG GAATATATACGTATGGAATATATATATATGGAATATATACGTATGGAATA TATATATATGGAATATATACGTATGGAATATATATATGGAATATATACGT ATGGAATATATATATGGAATATATACGTATGGAATATATATATGGAATAT ATACGTATGGAATATATATATATATGGAATATACGTATGGAATATATATA TATGGAATATACGTATGGAATATATATATATGGAATATACGTATGGAATA TATATATATGGAATATATATGTATGGAATATATATATGGAATATATATGT ATGGAATATATATATGGAATATATATATATGGAATATATATGTATGGAAT ATATATATATGGAATATATGTATGGAATATATATGTATGGAATATATATA TGGAATATATATGTATGGAATATATATATGGAATATATATGTATGGAATA TATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAA TATATATATGGAATATATATATGGAATATATATGTATGGAATATATATAT GGAATATATATGTATGGAATATACATATGGAATATATATGTATGGAATAT ACATATGGAATATATATGTATGGAATATACATATGGAATATATATGTATG GAATATATATATATGGAATATATGTATGGAATATATATATGGAATATATG TATGGAATATATATATATGGAATATATGTATGGAATATATATATATGGAA TATATGTATGGAATATATATATATGGAATATATGTATGGAATATATATAT ATGGAATATATGTATGGAATATATAT		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					1924		chr21	TogoVar
KIRREL3_chr11_126418358_127005770	126632686	G G	GCCACAAG others(953): Show GCCACAAGCCTCCTTCCCTGTGCAGCTGCTTTTCTGTCCTGCCCAAGAGC AGCCCTGGGGAGGGGGCAATTGAGTGAGGGACTGCGAATGCCAGAAAACA TGGGTGAGAAGCATGTCCGCACCTCCCACCCAACCTGGTGGGAATCCTGT AAAGCCTGCCTGAACTCTTGTTCATATCGTTGCTGCATACTGGGCATTGG GAGATAAAAATTGATGAGGAGACATTAGTATACTTGTTACAGCAGTGGCT AATATGCAGTGGAGGAGGCTTGTGGGGAGAGAGAGAGAGAGAGAGAAAAG AAGAAGAAAAAGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAGGAGGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA GGAAGGAACGGTAGCGGCTATCCAAGGTGCGGACAACAGCCCTTATAGCC CTTATGCAGCTCAGATGCCCACTCCATGACAGGTATGAGCTGACCTGGGC ATGCATTCTCTGCAGGGAGACAATTACTGTTGCTGTGTGTGACAGGGTTG ATACATCCTGCTGAAGGTAGGCATCTCTGTGTTTCCTTATTTTGTAATCC TTTCAAGCCTTCTGAATCCAGCCTCTGTCTCCAGCTGTCCAGTTCTGGAC AAGCCTGCTACTCAGTGGAACCCCTCGTTTCTACCCCCAGGTGGTCTAGG CACTGAGGCTACAGAGGGCTATAAGGGCTGTTGTCCGCACCTTGGATAGC CGCTACCGTTCCTTCCTTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTT CCTTCCTTTCCCTTCCTTTCCTTTCTTTTTCTTCTTCTTTTCTCTCTCTC TCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0029 a0001c0004t0029	a0001c0004t0029g0029 a0001c0004t0029g0029	1	16	0.0625	960	c.56- others(977): Show c.56-69775_56-69774insGGAGAGAGAGAGAGAGAGAGAAAAGAAG AAGAAAAAGAAAGGAAAGGAAGGGAAAGGAAGGAAAGGAAGGAGGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGGAGGAAGGAAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA GGAAGGAAGGAAGGAAAGGAAGGAACGGTAGCGGCTATCCAAGGTGCGGA CAACAGCCCTTATAGCCCTCTGTAGCCTCAGTGCCTAGACCACCTGGGGG TAGAAACGAGGGGTTCCACTGAGTAGCAGGCTTGTCCAGAACTGGACAGC TGGAGACAGAGGCTGGATTCAGAAGGCTTGAAAGGATTACAAAATAAGGA AACACAGAGATGCCTACCTTCAGCAGGATGTATCAACCCTGTCACACACA GCAACAGTAATTGTCTCCCTGCAGAGAATGCATGCCCAGGTCAGCTCATA CCTGTCATGGAGTGGGCATCTGAGCTGCATAAGGGCTATAAGGGCTGTTG TCCGCACCTTGGATAGCCGCTACCGTTCCTTCCTTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTTCCT TCCTTTCCTTTCCTTTCCTTTCTTTTTCTTCTTCTTTTCTCTCTCTCTCT CTCTCTCCCCACAAGCCTCCTCCACTGCATATTAGCCACTGCTGTAACAA GTATACTAATGTCTCCTCATCAATTTTTATCTCCCAATGCCCAGTATGCA GCAACGATATGAACAAGAGTTCAGGCAGGCTTTACAGGATTCCCACCAGG TTGGGTGGGAGGTGCGGACATGCTTCTCACCCATGTTTTCTGGCATTCGC AGTCCCTCACTCAATTGCCCCCTCCCCAGGGCTGCTCTTGGGCAGGACAG AAAAGCAGCTGCACAGGGAAGGAGGCTTGTGG		KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16						chr11	TogoVar
KIRREL3_chr11_126418358_127005770	126632686	G G	GCCACAAG others(953): Show GCCACAAGCCTCCTTCCCTGTGCAGCTGCTTTTCTGTCCTGCCCAAGAGC AGCCCTGGGGAGGGGGCAATTGAGTGAGGGACTGCGAATGCCAGAAAACA TGGGTGAGAAGCATGTCCGCACCTCCCACCCAACCTGGTGGGAATCCTGT AAAGCCTGCCTGAACTCTTGTTCATATCGTTGCTGCATACTGGGCATTGG GAGATAAAAATTGATGAGGAGACATTAGTATACTTGTTACAGCAGTGGCT AATATGCAGTGGAGGAGGCTTGTGGGGAGAGAGAGAGAGAGAGAGAAAAG AAGAAGAAAAAGAAAGGAAAGGAAAGGAAGGAAAGGAAGGAGGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAACGGTAGCGG CTATCCAAGGTGCGGACAACAGCCCTTATAGCCCTTATGCAGCTCAGATG CCCACTCCATGACAGGTATGAGCTGACCTGGGCATGCATTCTCTGCAGGG AGACAATTACTGTTGCTGTGTGTGACAGGGTTGATACATCCTGCTGAAGG TAGGCATCTCTGTGTTTCCTTATTTTGTAATCCTTTCAAGCCTTCTGAAT CCAGCCTCTGTCTCCAGCTGTCCAGTTCTGGACAAGCCTGCTACTCAGTG GAACCCCTCGTTTCTACCCCCAGGTGGTCTAGGCACTGAGGCTACAGAGG GCTATAAGGGCTGTTGTCCGCACCTTGGATAGCCGCTACCGTTCCTTCCT TTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTT CCTTCCTTTCCTTTCCTTTCCTTTCTTTTTCTTCTTCTTTTCTCTCTCTC TCTCTCTCTCC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0083 a0001c0004t0014g0083	1	16	0.0625	960	c.56- others(977): Show c.56-69775_56-69774insGGAGAGAGAGAGAGAGAGAGAAAAGAAG AAGAAAAAGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAGGAGGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA GGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAAGGAAGGAACGGTAGCG GCTATCCAAGGTGCGGACAACAGCCCTTATAGCCCTCTGTAGCCTCAGTG CCTAGACCACCTGGGGGTAGAAACGAGGGGTTCCACTGAGTAGCAGGCTT GTCCAGAACTGGACAGCTGGAGACAGAGGCTGGATTCAGAAGGCTTGAAA GGATTACAAAATAAGGAAACACAGAGATGCCTACCTTCAGCAGGATGTAT CAACCCTGTCACACACAGCAACAGTAATTGTCTCCCTGCAGAGAATGCAT GCCCAGGTCAGCTCATACCTGTCATGGAGTGGGCATCTGAGCTGCATAAG GGCTATAAGGGCTGTTGTCCGCACCTTGGATAGCCGCTACCGTTCCTTCC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCT TTCCTTCCTTTCCTTTCCTTTCTTTTTCTTCTTCTTTTCTCTCTCTCTCT CTCTCTCCCCACAAGCCTCCTCCACTGCATATTAGCCACTGCTGTAACAA GTATACTAATGTCTCCTCATCAATTTTTATCTCCCAATGCCCAGTATGCA GCAACGATATGAACAAGAGTTCAGGCAGGCTTTACAGGATTCCCACCAGG TTGGGTGGGAGGTGCGGACATGCTTCTCACCCATGTTTTCTGGCATTCGC AGTCCCTCACTCAATTGCCCCCTCCCCAGGGCTGCTCTTGGGCAGGACAG AAAAGCAGCTGCACAGGGAAGGAGGCTTGTGG		KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16						chr11	TogoVar
LKAAEAR1_chr20_64078376_64089398	64088656	A A	AGGGCAGG others(953): Show AGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTATGCAGGGAGGGCAGGGTCTGTGCAGAGTGGCCAGGGTCTTTGCAGGG TGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGGGAGGGCAGGGTCTGTGCAGAGTGGCCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGG AGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGGGAAGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGAT CTGTGCAGAGTGGCCAGGATCTGTGAAGAGTGGCCAGGATCTGTGCAGGG AGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGGGAGGGTAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGCAGCCAGGAT CTGTGCAGAGTGGCCAGGATCTGTGCAGGGAAGGCAGGATCTGTGCAGAG TGGCCAGGATCCGTGCAGAGTGGCCAGGATCCGTGCAGGGAGGCCATGAT CTGTGCAGGGAGGGCAGGGTCTGTGCAGAGTGGCCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGAAGAGTGGCCAGGAT CTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGAT CTGTGCAGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	64	0.0156	960	c.-44 others(971): Show c.-4438_-4437insACTCTGCACAGATCCTGGCCTCCCTGCACAGATC CTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTC TGCACAGATCCTGCCCTCCCTGCACAGATCCTGGCCACTCTTCACAGATC CTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTC TGCACAGACCCTGCCCTCCCTGCACAGATCATGGCCTCCCTGCACGGATC CTGGCCACTCTGCACGGATCCTGGCCACTCTGCACAGATCCTGCCTTCCC TGCACAGATCCTGGCCACTCTGCACAGATCCTGGCTGCTCTGCACAGATC CTGCCCTCCCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTC TGCACAGATCCTACCCTCCCTGCACAGATCCTGGCCACTCTGCACAGATC CTGGCCACTCTGCACAGATCCTGCCCTCCCTGCACAGATCCTGGCCACTC TTCACAGATCCTGGCCACTCTGCACAGATCCTGCCCTCCCTGCACAGATC CTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTC TGCACAGATCCTGCCTTCCCTGCACAGATCCTGGCCACTCTGCACAGATC CTGGCCACTCTGCACAGATCCTGCCCTCCCTGCACAGATCCTGGCCACTC TGCACAGATCCTGGCCTCCCTGCACAGATCCTGGCCACTCTGCACAGATC CTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTC TGCACAGACCCTGCCCTCCCTGCACAGATCCTGGCCACTCTGCACAGATC CTGGCCTCCCTGCACAGATCCTGGCCACCCTGCAAAGACCCTGGCCACTC TGCACAGACCCTGCCCTCCCTGCATAGATCCTGGCCACTCTGCACAGATC CTGGCCACTCTGCACAGATCCTGCCC		LKAAEAR1	ENSG00000171695.11	transcript	ENST00000302096.5	protein_coding					4259		chr20	TogoVar
LUC7L_chr16_183990_234449	186118	G G	GGGAGGAA others(953): Show GGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGC GACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAA CAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAG CGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGA CACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGA GGAACAGCGACACGGGGGAGGAACAGCGACACGGGAGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGGAGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAAC AGCGACACGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	342	0.0029	960	c.30 others(971): Show c.3079_*3080insTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCC TCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCG CTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCGTGTC GCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCC GTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCC CGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCT CCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTG TTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCGTGT CGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCG TGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTC CCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGT TCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTC GCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCC CGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCC CCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTT CCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGT CGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCG TGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCC CTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCTCC		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2871		chr16	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(953): Show GCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTGCCCTCCCCCCTCCCCTCC CTCCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTC CCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCC CTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCT CCCCCTCCCCTCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTC CCCTCCCCCCTCCCCCCTTCCCTCCCCCCTCCCCCCTTCCCTCCCCCCTC CCCCCTTCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCTTCCCCTCCCCTC CACCCTCCCCCTCTCCTCCCCTCCCTTCCCCTCCCCTCCCCTCCCTTCCC CTCCCCTCCCCTTCCCTCCCGCCTCCCCTTCCCCCCTCCCCTCCCCTCCC CCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTT CCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCCCTTCGCCTCCCCT CCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTTCCCTCCCTTCCC CTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCCTCCCCCCT CCTCCCCCTCCCTTCCCCTCTGCTTGCCCCTTCCCTCCCCTCTCCTCTCC CCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCC CTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCACCCCT CCCCTCCCCAC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0036 a0002c0036	a0002c0036t0001 a0002c0036t0001	a0002c0036t0001g0232 a0002c0036t0001g0232	1	8	0.1250	960	c.115 others(977): Show c.1157+156_1157+157insCCTCCCCTCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTGCCCTCCCCCCTCCCC TCCCTCCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCC CTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCC CCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCTCCCCCTCCCCTCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCC CTCCCCTCCCCCCTCCCCCCTTCCCTCCCCCCTCCCCCCTTCCCTCCCCC CTCCCCCCTTCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCTTCCCCTCCC CTCCACCCTCCCCCTCTCCTCCCCTCCCTTCCCCTCCCCTCCCCTCCCTT CCCCTCCCCTCCCCTTCCCTCCCGCCTCCCCTTCCCCCCTCCCCTCCCCT CCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCC CTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCCCTTCGCCTCC CCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTTCCCTCCCTT CCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCCTCCCC CCTCCTCCCCCTCCCTTCCCCTCTGCTTGCCCCTTCCCTCCCCTCTCCTC TCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCT TCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCACC CCTCCCCTCCCCACCCCTCCCCTCCCCTCCCC		MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(953): Show GCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTTCCCCTCCCCTCCCCCCTC CCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTTCCCTCCCCTCCCCCCTCC CCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTTCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCCTCCCCCCTCCCCCTCCCCTCCCTTCCCCCC TCCCCTCCCCTCCCTTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCC CCCCTTCCCCTCCCCTCCACCCTCCCCCTCTCCTCCCCTCCCTTCCCCTC CCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCGTCCCCCCTCCCCTTCCC CCTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTC CCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCC CCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCC CTTTCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTC CCCTCCCCTCCCCCTCCTCCCCCTCCCTTCCCCTCTGCTTGCCCCTTCCC TCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCC CCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCT CCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0025	a0002c0002t0025g0274 a0002c0002t0025g0274	1	8	0.1250	960	c.115 others(977): Show c.1157+156_1157+157insCCTCCCCTCCCTTCCCCTCCCCTCCCCC CTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTC CCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTTCCCTCCCCTCCCCCC TCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTTCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCCCTCCCCCCTCCCCCTCCCCTCCCTTCCC CCCTCCCCTCCCCTCCCTTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCC TCCCCCCTTCCCCTCCCCTCCACCCTCCCCCTCTCCTCCCCTCCCTTCCC CTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCGTCCCCCCTCCCCTT CCCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCC CTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCC TCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCC TCCCTTTCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCC TTCCCCTCCCCTCCCCCTCCTCCCCCTCCCTTCCCCTCTGCTTGCCCCTT CCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTC CCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCC CCTCCCCTCCCCACCCCTCCCCTCCCCTCCCC		MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr17	TogoVar
MOCS1_chr6_39899170_39939462	39926745	G G	GAAGGAGG others(953): Show GAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAG AAGGGGAGGGGCAGGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAA GGGGCGGGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAG GGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGG GGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGGGAGGGGAGGGGAGGGGATGGGAGGGGAGGGGAGGGGGGAGGGGGA GGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGA GGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGA GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGA GGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGA GGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAG GGAGGAGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGG GAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGAGGGGAGTGGAGGGGGAGG GGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGG AGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGG GGAGGGAGGGT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	213	0.0047	960	c.250 others(975): Show c.250+583_250+584insACCCTCCCTCCCCCTCCCCTCCCTCCCCCT CCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCC TCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCCT CCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCT CCCCCTCCCCCTCCACTCCCCTCCCTCCTCCCTCCCCCTCCACTCCCCTC CCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTCT CTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCT CTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCC TCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCT CCCCTCCCATCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTC CCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCAC CCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTC CCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCC CCTTTTCCCCCTCCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGC CTTCCTCCTTCCCCCTCCTTCCCCCTCCTT		MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10						chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926745	G G	GAAGGAGG others(953): Show GAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAG AAGGGGAGGGGCAGGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAA GGGGCGGGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAG GGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGG GGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGGGAGGGGAGGGGAGGGGATGGGAGGGGAGGGGAGGGGGAG GGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAG GGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGA GGGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAG GGGAGGGGGAGGGGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGG GAGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGG AGGGAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAG GGAGGAGGGAGGGAGTGGAGGGGGAGGGGGAGGGAGGGGGAGGGGAGGGG GAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGAGGGGAGTGGAGGGGGAGG GGGGAGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGG AGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGG GGAGGGAGGGT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	213	0.0047	960	c.250 others(975): Show c.250+583_250+584insACCCTCCCTCCCCCTCCCCTCCCTCCCCCT CCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCC TCCCCCTCCACTCCCATCCCTCCTCCTCCCCCCTCCCCCTCCACTCCCCT CCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCCTCCC TCCCCCTCCCCCTCCACTCCCTCCCTCCTCCCTCCCCCTCCACTCCCCTC CCCTCCCTCCCCCTCCCCTCCCTCCCTCCCTCCCCCTCCCCCTCCCTCTC TTCCCTCCCCCTCCCCCTCCCTCTCTTCCTCCCCCTCCCCCTCCCTCTCT TCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCC CCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCATCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTC CCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCAC CCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTC CCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCC CCTTTTCCCCCTCCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGC CTTCCTCCTTCCCCCTCCTTCCCCCTCCTT		MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10						chr6	TogoVar
MPPED1_chr22_43407014_43512848	43432640	A A	AAAGGGAG others(953): Show AAAGGGAGGAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAA AGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATA AAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAG AGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAG AGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAG AGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGG AGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAG AGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGAAAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAG AGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGA GAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAA AGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGG AGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAA AGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01106.hp2 HG01175.hp1 others(5): Show HG01081.hp1 HG01106.hp2 HG01175.hp1 HG03704.hp2 HG04184.hp2 HG04204.hp2 NA18968.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0021 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0021 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0025	a0001c0001t0021g0095 a0001c0002t0001g0072 a0001c0002t0001g0075 others(5): Show a0001c0001t0021g0095 a0001c0002t0001g0072 a0001c0002t0001g0075 a0001c0002t0002g0087 a0001c0002t0003g0078 a0001c0002t0003g0092 a0001c0002t0007g0104 a0001c0002t0025g0083	8	71	0.1127	960	c.225 others(977): Show c.225-2394_225-2393insAAGGGAGGAGAGAGAGGGAAAGAGAGAG AGAAGGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAG AGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGG AAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGA GGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAG GGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAG GAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAA GGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGAAAGGGAGGAGAGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAG ATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGG GAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAT AAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGA GAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6						chr22	TogoVar
MUC4_chr3_195741771_195816929	195783262	T T	TCGGTAAC others(953): Show TCGGTAACATGAAGAGGGGTGGCGTGACCTGTGGATAATGAGGAAGCATT GGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTGG TGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGGAGTGTCGGTG ACAGGTAGAGGGGTGGTGTGACCTGTAGATGCTGAGGAAGGGCTGGTGAC AGGAAGACGGGTGGTGTCACCTGTGGATACTGACGAAGCGTCGGTGACAA GAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGCCAGGA AGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAG AGGGGTGGCATGACCTGTGGATGCCGAGGAAACGTTGGTGACAGGAAGAC GGGTGGTGTCACCTGTGGAAGCTGAGGAAAGGCCGGTGACAGGAAGATGG GTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGT GGTGTCACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGG TGTGACCTGAGGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGTG TGACCTGAGGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTC ACCTGTGGATACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTGAC CTGAGGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTCACCT GTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGAGGTGGCGTGACCTGT GGACACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGG ATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGTCCTGTGGAT GCTGAGGAAGTGTCGGTGACAAGAAGAAGGATGGCGTGACCTGTGGATGC TGAGGAAGGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG00099.hp1	a0026 a0026	a0026c0048 a0026c0048	a0026c0048t0001 a0026c0048t0001	a0026c0048t0001g0096 a0026c0048t0001g0096	1	234	0.0043	960	c.831 others(969): Show c.8317_8318insGCCCTTCCTCAGCATCCACAGGTCACGCCATCCTTC TTCTTGTCACCGACACTTCCTCAGCATCCACAGGACAGGCCACCCCTCTT CCTGTCACCAGCCTTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCC TGTCACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTCTTCCTG TCACCAGCCTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTC ACCAGCCCTTCCTCAGCATCCTCAGGTCACACCACCCCTCTTCCTGTCAC CGACGCTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACCA GCCCTTCCTCAGCATCCTCAGGTCACACCACCCCTCTTCCTGTCACCAGC CCTTCCTCAGCATCCTCAGGTCACACCACCCCTCTTCCTGTCACCGACGC TTCCTCAGCATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACACTT CCTCAGCATCCACAGGTCACGCCACCCATCTTCCTGTCACCGGCCTTTCC TCAGCTTCCACAGGTGACACCACCCGTCTTCCTGTCACCAACGTTTCCTC GGCATCCACAGGTCATGCCACCCCTCTTCCTGTCACCAGCACTTCCTCAG CATCCACAGGTGACACCACCCCTCTTCCTGGCACCGACACTTCCTCAGTA TCCACAGGTCACACCACCCCTCTTCTTGTCACCGACGCTTCGTCAGTATC CACAGGTGACACCACCCGTCTTCCTGTCACCAGCCCTTCCTCAGCATCTA CAGGTCACACCACCCCTCTACCTGTCACCGACACTCCCTCAGCATCCACA GGTGACACCACCCCTCTTCCTGTCACCAGCCCTTCCTCAGCATCCACAGG TCACGCCACCCCTCTTCCTGTCACCAATGCTTCCTCATTATCCACAGGTC ACGCCACCCCTCTTCATGTTACCG	p.Asn others(973): Show p.Asn2773delinsSerProSerSerAlaSerThrGlyHisAlaIleLe uLeuLeuValThrAspThrSerSerAlaSerThrGlyGlnAlaThrProL euProValThrSerLeuSerSerAlaSerThrGlyAspThrThrProLeu ProValThrAspAlaSerSerValSerThrGlyHisAlaThrSerLeuPr oValThrSerLeuSerSerValSerThrGlyAspThrThrProLeuProV alThrSerProSerSerAlaSerSerGlyHisThrThrProLeuProVal ThrAspAlaSerSerValSerThrGlyAspThrThrProLeuProValTh rSerProSerSerAlaSerSerGlyHisThrThrProLeuProValThrS erProSerSerAlaSerSerGlyHisThrThrProLeuProValThrAsp AlaSerSerAlaSerThrGlyAspThrThrProLeuProValThrAspTh rSerSerAlaSerThrGlyHisAlaThrHisLeuProValThrGlyLeuS erSerAlaSerThrGlyAspThrThrArgLeuProValThrAsnValSer SerAlaSerThrGlyHisAlaThrProLeuProValThrSerThrSerSe rAlaSerThrGlyAspThrThrProLeuProGlyThrAspThrSerSerV alSerThrGlyHisThrThrProLeuLeuValThrAspAlaSerSerVal SerThrGlyAspThrThrArgLeuProValThrSerProSerSerAlaSe rThrGlyHisThrThrProLeuProValThrAspThrProSerAlaSerT hrGlyAspThrThrProLeuProValThrSerProSerSerAlaSerThr GlyHisAlaThrProLeuProValThrAsnAlaSerSerLeuSerThrGl yHisAlaThrProLeuHisValThrAsp	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8429/16756	8317/16239	2773/5412			chr3	TogoVar

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