Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(635): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGA GAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAAGAGAGAAG AGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGA GGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGA GTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	350	0.0029	642	c.624 others(657): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCT CCTCCTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTG CCTCCTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCT CTCCTCCTCCCCTCTTCTCTCTTCCTCCCCTCCTTCCTCTCCTCCTCCTC CCCTCCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTC CTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCC CCTCCTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCT TTCTCCCTCCTCCTCCTTCCCTCCTCCTTTCTCTTCTTTTCTCCCACTTC TCCCTCCTCCCCTTCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTT CTCCTCTTTTGTCCCTCCTCTCCCTCCTCCCTTTCACCTTTTCCTCCTCC TCCCCTCCTCCTTTCTCCCTCCCCCTCCCCTCATCTTTTCTCCCTCCTCC TCCTCTCCTCTTTCTCCTCCTCTATTCTCCCTCCTCTCCCTTCTCCCCCT TCACTTCTTCCTTCTCCTTCTTTCCTTCCTCCTCCTCCTCTTTTCTCCCT CCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(635): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGA GAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAG AGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGA GGGGAGGAGGAGACAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGA GTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA19074.hp2 NA19080.hp1 HG02129.hp1 NA19074.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169	3	350	0.0086	642	c.624 others(657): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCT CCTCCTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTG TCTCCTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTC CCCTCCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTC CTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCC CCTCCTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCT TTCTCCCTCCTCCTCCTTCCCTCCTCCTTTCTCTTCTTTTCTCCCACTTC TCCCTCCTCCCCTTCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTT CTCCTCTTTTGTCCCTCCTCTCCCTCCTCCCTTTCACCTTTTCCTCCTCC TCCCCTCCTCCTTTCTCCCTCCCCCTCCCCTCATCTTTTCTCCCTCCTCC TCCTCTCCTCTTTCTCCTCCTCTATTCTCCCTCCTCTCCCTTCTCCCCCT TCACTTCTTCCTTCTCCTTCTTTCCTTCCTCCTCCTCCTCTTTTCTCCCT CCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(635): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGA GAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAG AGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGA GGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGA GTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp1 others(83): Show HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00597.hp2 HG00621.hp1 HG00735.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp2 HG02602.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02970.hp2 HG03491.hp1 HG03492.hp1 HG03710.hp1 HG03831.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18944.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18964.hp1 NA18970.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18990.hp1 NA18990.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19011.hp2 NA19056.hp1 NA19067.hp1 NA19077.hp1 NA19077.hp2 NA19085.hp1 NA19087.hp2 NA19091.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0009 others(2): Show a0001c0001 a0001c0002 a0001c0009 a0002c0003 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0002t0001 a0001c0009t0002 a0002c0003t0002 a0005c0007t0002	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 others(72): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0002g0007 a0001c0001t0002g0014 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0047 a0001c0001t0002g0052 a0001c0001t0002g0059 a0001c0001t0002g0065 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0278 a0001c0001t0002g0290 a0001c0001t0006g0182 a0001c0001t0010g0147 a0001c0002t0001g0279 a0001c0009t0002g0036 a0002c0003t0002g0112 a0005c0007t0002g0045	86	350	0.2457	642	c.624 others(657): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCT CCTCCTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTG CCTCCTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTC CCCTCCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTC CTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCC CCTCCTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCT TTCTCCCTCCTCCTCCTTCCCTCCTCCTTTCTCTTCTTTTCTCCCACTTC TCCCTCCTCCCCTTCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTT CTCCTCTTTTGTCCCTCCTCTCCCTCCTCCCTTTCACCTTTTCCTCCTCC TCCCCTCCTCCTTTCTCCCTCCCCCTCCCCTCATCTTTTCTCCCTCCTCC TCCTCTCCTCTTTCTCCTCCTCTATTCTCCCTCCTCTCCCTTCTCCCCCT TCACTTCTTCCTTCTCCTTCTTTCCTTCCTCCTCCTCCTCTTTTCTCCCT CCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(635): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGGGGG GAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGA GAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAG AGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGA GGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGA GTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	350	0.0029	642	c.624 others(657): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCT CCTCCTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTG CCTCCTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTC CCCTCCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTC CTCTCTCCTCCTCCCCCCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCC CCTCCTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCT TTCTCCCTCCTCCTCCTTCCCTCCTCCTTTCTCTTCTTTTCTCCCACTTC TCCCTCCTCCCCTTCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTT CTCCTCTTTTGTCCCTCCTCTCCCTCCTCCCTTTCACCTTTTCCTCCTCC TCCCCTCCTCCTTTCTCCCTCCCCCTCCCCTCATCTTTTCTCCCTCCTCC TCCTCTCCTCTTTCTCCTCCTCTATTCTCCCTCCTCTCCCTTCTCCCCCT TCACTTCTTCCTTCTCCTTCTTTCCTTCCTCCTCCTCCTCTTTTCTCCCT CCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(635): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATACATAAATATAAAT ATATTATATATATTATATATAAATATAAATATATTATATATTATATAAAT ATAAATATATTATATATAATATATAATATAAATCTATTATATATAATATA TATTATAAATATATTATATATAATATATATAATATATATATTATATATAT TATATATATTATATATAATATAAATATATTATATATAATATATATAATAT AAATATATTATATATAATATATATAATATAAATATATTATATATATTATA TATAATATAAATATATTATATATATTATATATAATATAAATATATTATAT ATATTATATATAATATAAATATATTATATATATTATATATAATATAAATA TATTATATATATTATATATAATATAAATATATTATATATATTATATATAA TATAAATATATTATATATATTATATATAATATAAATATATTATATATATT ATATATAATATAAATATATTATATATATTATATATAATATAAATATATTA TATATAATATATATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0181 a0003c0006t0003g0181	1	346	0.0029	642	c.-70 others(659): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATATTATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATAATATATATAA TATATTTATATTATATATAATATATATAATATATTTATATTATATATATT ATATATAATATATTTATATTATATATATTATATATAATATATTTATATTA TATATAATATATATAATATATATAATATATATATTATATATATTATATAT AATATATTTATAATATATATTATATATAATAGATTTATATTATATATTAT ATATAATATATTTATATTTATATAATATATAATATATTTATATTTATATA TAATATATATAATATATTTATATTTATGTATAATATATATAATATATTTA TATTTATGTATAATATATATAATATATTTATATTTATGTATAATATATAT AATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(635): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGA AGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAG GGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGA GGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGG GAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAGGGGAG GGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAG GGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGAGG GGGAGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGG AGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02922.hp1 HG02976.hp1 others(2): Show HG01109.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	352	0.0142	642	c.12 others(653): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCC CTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCC CCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCCCCC TTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCC TCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCAT CCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCC CTCCCCCTCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCC CGTCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCC TCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCC TCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCC CTCCCCACCCTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCC CTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(635): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGA GGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGG AGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGGAGGGC AGAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGG GGAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAA GGGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGG AGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGG AGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGG GGAAGGGGGGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGG GGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGG GAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGG AGGGGGGAAGGGGGAAGGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAG GGGGAGAGGGGGAGGAGGGAGGGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	642	c.12 others(653): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCTCCCTCCTCCC CCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCCTTCCCCC TTCCCCCCTCCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCC CTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCC CTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTC CCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCC TCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCC CTCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTC CCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCT TCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTC CCCTCCTCTGCCCTCCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCT CACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCAC CCTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(635): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAA GGGAGGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGG GAGGAGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAG GGCAGAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAG AGGGGAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGG GAAGGGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAG GGGAGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAG GGGAGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGG AGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGG AGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGA GGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGG GGGAGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGG AGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	642	c.12 others(653): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCTCCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTT CCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTC CCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTCCCC CCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCC TCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTC CCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCC CTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCC CCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCC TCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACC TCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTC CCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(635): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGG AGGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAG GAGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGC AGAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGG GGAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAA GGGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGA GGAGGGAGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAG GGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGA AGGGGGGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGA GGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAG GGGAAGGGAGGGGAGGGGAGAGGGGAGGGAGGGAGAGGGAGGGGAGGAGG GAGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGAGAGGGGAGGGGGGAGG GGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	642	c.12 others(653): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCTCCCTCCTCCCCCTTCCCCCT TCCCCCCTCCCTCCTCCCCTCCCTCTCCCTCCCTCCCCTCTCCCCTCCCC TCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTT CCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCCCCCTTCCCC TTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCT CCCTCCTCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCC CCTCCCTCCTCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTC CCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCT TCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTC CCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTC ACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACC CTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(635): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGG AGGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAG GAGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGC AGAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGG GGAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAA GGGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGG AGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGG AGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGG GGAAGGGGGGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGG GGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGG GAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGG AGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGG GGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG04228.hp2 HG03239.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	352	0.0057	642	c.12 others(653): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCCTCCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCC CTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCC CTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTC CCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCC TCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCC CTCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTC CCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCT TCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTC CCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTC ACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACC CTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SPATA6_chr1_48290373_48477204	48384325	G G	GGAGGGAG others(635): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG03540.hp2 HG02523.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0176 a0001c0001t0002g0156 a0001c0001t0002g0176	2	322	0.0062	642	c.909 others(657): Show c.909+983_909+984insTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(635): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGC GTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC GGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCA GGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCGACATCGT GTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAGTGCTGGGA TTACAGGCATGAGTCACTGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTT TGAGACAGGTCTCGTTCTGTTGCCAAGGCTGGCACGCAGTTGT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02886.hp1 HG02647.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0284 a0001c0001t0001g0279 a0001c0001t0001g0284	2	356	0.0056	642	c.245 others(659): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGG AGTTCGAGACCAGCGTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAA TACAAAAATTAGCCGGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTC AGGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAG TGAGCCGACATCGTGTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTC CATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ACAAAGTGCTGGGATTACAGGCATGAGTCACTGTGCCTGGCTTTTTTTTT TTTTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGCCAAGGCTGGCACG CAGTTGTGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(635): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGC GTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC GGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCA GGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCGACATCGT GTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAGTGCTGGGAT TACAGGCATGAGTCACTGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTTT TGAGACAGGTCTCGTTCTGTTGCCAAGGCTGGCACGCAGTTGT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	356	0.0028	642	c.245 others(659): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGG AGTTCGAGACCAGCGTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAA TACAAAAATTAGCCGGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTC AGGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAG TGAGCCGACATCGTGTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTC CATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA CAAAGTGCTGGGATTACAGGCATGAGTCACTGTGCCTGGCTTTTTTTTTT TTTTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGCCAAGGCTGGCACG CAGTTGTGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
STK38L_chr12_27239286_27330959	27311587	T T	TATAAAAT others(635): Show TATAAAATTTTCCAGTCTATAACATTTTCACATGATAGTATCTCTAGTAA TTATGTGTCCGAGAAATCAGTGGCAAAATCCCCAAAAGTTACACAAATTT GCTTTAGCTAACATTTATAGATATGGTAGAGGTTTTATATTATAACAATA ATATAACATAAAGTTACTATAATTGTTACTATTTCTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTCTTTTTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC CGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATG TGATCTCATTGTTCAATTCCCACCTATGAGTGAGATTATGCGGTGTTTGG TTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATC CATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTA TTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	374	0.0027	642	c.394 others(657): Show c.394-775_394-774insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTCCTTTCTTTTTTTTTTTTATTATACTCTAA GTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACAT GTGCCATGCTGGTGCACTGCACCCACTAATGTGTCATCTAGCATTAGGTA TATCTCCCAATGCTATCCCTCCCCCCTCCCCCCGACCCCACCACAGTCCC CAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATT CCCACCTATGAGTGAGATTATGCGGTGTTTGGTTTTTTGTTCTTGCGATA GTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGAT ATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTG CCACATTTTCTTAATCCAGTCTATCATAAAATTTTCCAGTCTATAACATT TTCACATGATAGTATCTCTAGTAATTATGTGTCCGAGAAATCAGTGGCAA AATCCCCAAAAGTTACACAAATTTGCTTTAGCTAACATTTATAGATATGG TAGAGGTTTTATATTATAACAATAATATAACATAAAGTTACTATAATTGT TACTATTTCTTT	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
TCF3_chr19_1604292_1657615	1629082	C C	CGGGAAGG others(635): Show CGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGC AGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTG AGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAG CAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGT GAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGAC AGCAGAACTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGG GTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGA CAGCAGAGCTCACGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACAGGG GGTGAGGCGGGAAGGGGACAGAAGAGCTCATGGGGATGGGGTGGGAAGGG GACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAG GGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGGGGCGGGAAGG GGACAGCAGAGCTCATGGGGATGGGGTGGGAAGGGGACAGCAGAGCTCAC GGGTGGGGCGGGAAGGGGACAGAAGAGCTCATGGGGATGGGGT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	352	0.0028	642	c.299 others(659): Show c.299-1657_299-1656insACCCCATCCCCATGAGCTCTTCTGTCCC CTTCCCGCCCCACCCGTGAGCTCTGCTGTCCCCTTCCCACCCCATCCCCA TGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCGTGAGCTCTGCTGTCCCC TTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC GTGAGCTCTGCTGTCCCCTTCCCACCCCATCCCCATGAGCTCTTCTGTCC CCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACC CCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTC CCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCC CCTGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTG TCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCAC CCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCT GTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCT GCTGTCCCCTTCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629129	C C	CAGAGCTC others(635): Show CAGAGCTCACAGGGGGTGGAGCGGGAAGGGGACAGCAGAGCTCACGGGGT GGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGGGGCGGGAAGGGGACA GCAGAGCTCACGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCATGGGGAT GGGGTGGGAAGGGGACAGCAGAGCTCACGGGGTGGGGCGGGAAGGGGACA GCAGAGCTCACAGGGGGTGATGCGGGAAGGGGACAGCAGAGCTCACAGGG GGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGATGCGGGAAGGGG ACAGCAGAGCTCACAGGGGGTGATGCGGGAAGGGGACAGCAGAGCTCACA GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCAC GGGGTGGGGCGGGAAGGGGACAGTAGAGCTCACGGGGTGGGGCGGGAAGG GGACAGTAGAGCTCACAGAGGGTGGGGCGGGAAGGGGACAGCAGAGCTCA CGGGGGGTGGAGCGGGAAGGGGACAGCAGAGCTCATGGGGATGGGGTGGG AAGGGGACAGCAGAGCTCACGGGTGGGGCGGGAAGGGGACAGA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0015 a0015	a0015c0028 a0015c0028	a0015c0028t0072 a0015c0028t0072	a0015c0028t0072g0179 a0015c0028t0072g0179	1	352	0.0028	642	c.299 others(659): Show c.299-1704_299-1703insTCTGTCCCCTTCCCGCCCCACCCGTGAG CTCTGCTGTCCCCTTCCCACCCCATCCCCATGAGCTCTGCTGTCCCCTTC CCGCTCCACCCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCTCTG TGAGCTCTACTGTCCCCTTCCCGCCCCACCCCGTGAGCTCTACTGTCCCC TTCCCGCCCCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGT GAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCT TCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCATCACCCCC TGTGAGCTCTGCTGTCCCCTTCCCGCATCACCCCGTGAGCTCTGCTGTCC CCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCATCACC CCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCGTGAGCTCTGCTG TCCCCTTCCCACCCCATCCCCATGAGCTCTGCTGTCCCCTTCCCGCCCCA CCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCGTGAGCTCTGCTG TCCCCTTCCCGCCCCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCTCCAC CCCCTGTGAGCTCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(635): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGT CTCTCTCTCTCTCTCTCTCTCTGTCGTCTCTCTCTCTGTCTCTCTCTCTC TCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTC TCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTGTCTCTCTCTCTGTC TCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTC TCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTC TCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCTC TCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCTCTT TCCTCTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTGTCTCT CTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCT CTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCT CTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT CTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0128 a0001c0001t0006g0128	1	256	0.0039	642	c.924 others(659): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGA GAGAGACAGAGACAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGA AAGAGACAGAGAGAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGA GAGAAAGAGACAGAGAGAGACAGAGAGAAAGAGACAGAGAGAGACAGAGA GAGAGAGAGAGAGGAAAGAGACAGAGAGAGAGAGAGAGAGAGACAGAGAG AGAGAGAGAGACAGAGAGAGAAAGAGACAGAGAGAGAGAGACAGAGAGAG AGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAG AGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAG AGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGACAGAGAGAGAGACAG AGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAG AGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACGACAGAGAGA GAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGA GAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(635): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCT CTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCT CTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCT CTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCTCTCTGTCTCTCT CTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCT CTCTCTGTCTCTCTCTGTCTCTTTCTCTCTGTCTCTCTCTGTCTCTTTCT CTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTCTCTGTCTCT TTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTGTCTCT CTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCT CTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03704.hp2 NA18951.hp2 HG03017.hp1 HG03704.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0002t0007 a0001c0001t0001 a0001c0002t0004 a0001c0002t0007	a0001c0001t0001g0185 a0001c0002t0004g0112 a0001c0002t0007g0129 a0001c0001t0001g0185 a0001c0002t0004g0112 a0001c0002t0007g0129	3	256	0.0117	642	c.924 others(659): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGAGACAGA GAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAGAAAGAGA CAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGAGAAAGAGACA GAGAGAGACAGAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGA GAGACAGAGAGAGAGAGAGAGACAGAGAGAGAAAGAGACAGAGAGAGAGA GACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGA GACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGA GAGAGACAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGA GAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGA GAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGA GAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(635): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCT CTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCT CTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCT CTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCT CTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCTCTCTGTCTCTCTCT CTCTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCT CTCTCTGTCTCTCTCTGTCTCTTTCTCTCTGTCTCTCTCTGTCTCTTTCT CTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTCTCTGTCTCT TTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTGTCTCT CTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCT CTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02965.hp1 HG01243.hp2 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0009 a0001c0008t0009 a0001c0002t0009 a0001c0008t0009	a0001c0002t0009g0123 a0001c0008t0009g0126 a0001c0002t0009g0123 a0001c0008t0009g0126	2	256	0.0078	642	c.924 others(659): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGAGACAGA GAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAGAAAGAGA CAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGAGAAAGAGACA GAGAGAGACAGAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGA GAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAAAGAGACAGAGAGAGA GAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACA GAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGA GAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGA GAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGA GAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGA GAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TP53AIP1_chr11_128930370_128947871	128930835	G G	GTTAGGGA others(635): Show GTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGG AGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGC CAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGAAGGCCGGG GTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGG AGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGG CTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGG GTTATGGAGGCAGGGATTATGGAGGCAGGGATTAGGGAGGCAGGGATTAG GGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGG CCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCG GGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTT ATGGAGGCAGGGATTATGGAGGCAGGGATTAGGGAGGCAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	466	0.0022	642	c.47 others(653): Show c.4755_*4756insTCCCTGCCTCCCTAATCCCTGCCTCCATAATCCC TGCCTCCATAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCT CCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCC TAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACC CCGGCCTCCCTAATCCCTGCCTCCCTAATCCCTGCCTCCATAATCCCTGC CTCCATAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCC TAACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAAC CCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCGGCCTCCCTAACCCC GGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGT CTCCCTAACCCCGGCCTTCCTAACCCCCAGCCTCCCTACCCTGGCCTCCC TAACCCCTGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAT CCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCC GGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGT CTCCCTAA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4534		chr11	TogoVar
TXNDC16_chr14_52425596_52557505	52530408	T T	TATATATT others(635): Show TATATATTATTATATATAATAATATAATATATATTATTATATATTATTAT ATATAATAACATAATATATATTATTATATATTATTATATATAATAACATA ATATATATTATTATATATAATTATATATAATAATATAATATATATTATAT ATAATTATATATAATAATATAATATATATTATTATATATAATATTATATA ATAATATAATATATATTATTATATATATTATATAATAATATAATATATAT TATTATATATTATTATATATAATTATATATAATAATATAATATATATAAT ATTATTATATATAATAATATAATATATATTATTATATATAATTATATATA ATAATATAATATATATTATTATATATAATTATATATAATAATATATATAT TATTATATATAATTATATATAATATATATATATTATTATATATAATTATA TATAATAATATATATATATTATTATATATAATTATATATAATAATATATA TATATTATTATATATTATTATATATAATATATAATATATTATTATATATT ATTATATATAATAATATAATATATATTATATATTATTATATATAATAATA TAATATATATTATATATTATTATATATAATAATATAATATATA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0151 a0001c0001t0001g0152	2	238	0.0084	642	c.392 others(659): Show c.392+6310_392+6311insTATATATTATATTATTATATATAATAAT ATATAATATATATTATATTATTATATATAATAATATATAATATATATTAT ATTATTATATATAATAATATATAATAATATATTATATATTATATATAATA ATATATAATAATATATATATATTATTATATATAATTATATATAATAATAT ATATATATTATTATATATAATTATATATAATAATATATATATATTATATA TAATTATATATAATAATATATATATTATTATATATAATTATATATAATAA TATATATTATATTATTATATATAATTATATATAATAATATATATTATATT ATTATATATAATAATATTATATATATTATATTATTATATATAATTATATA TAATAATATATAATAATATATATTATATTATTATATAATATATATAATAA TATATATTATATTATTATATAATATTATATATAATAATATATATTATATT ATTATATATAATTATATATAATATATATTATATTATTATATATAATTATA TATAATAATATATATTATGTTATTATATATAATAATATATAATAATATAT ATTATGTTATTATATATAATAATATATAATAATATATATTATATTATTAT ATATAATAATATAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
ZNF516_chr18_76352682_76500242	76401788	C C	CCCCCGCG others(635): Show CCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCCGCACCCC TCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAC CCCCGCGCCGCACCCCTCCACCACCCACACCCCCGCGCCGCACCCCTCCA CCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCC GCGCTCCATCTCTCCACCAACCACACCCCCGCGCCGCACCTCTCCACCAC CAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGC CGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACC CACACCCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCA CCCCTCCACCACCAACCACACCCCCGCGCTCCATCTCTCCACCAACCACA CCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCC TCCACCACCAACCACACCCCCGCGCTCCATCTCTCCACCAACCACACCCC CGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCA CCACCCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0187 a0001c0001t0187	a0001c0001t0187g0089 a0001c0001t0187g0089	1	346	0.0029	642	c.181 others(663): Show c.1811-21486_1811-21485insCTGTGGTTGGTGGTGGAGGGGTGC GGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGT GGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCGCGG GGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTG GAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCGCGGGGGT GTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGTGGAGG GGTGCGGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGG TTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTG CGGCGCGGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGTGTGGT TGGTGGAGAGATGGAGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGC GCGGGGCTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGGTGGT GGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGG GGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTG GAGAGGTGCGGCGCGGGG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(636): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG ATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGA AGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGG GAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAG GGAGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGA GGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGG AGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0005 a0005	a0005c0037 a0005c0037	a0005c0037t0002 a0005c0037t0002	a0005c0037t0002g0140 a0005c0037t0002g0140	1	228	0.0044	643	c.259 others(664): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC TCCCATCCCTCCCTCCCTCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCC CTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTC CCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCT CCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC TCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTC CTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCAT CCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC TCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCTTTCCTTC TCTCCCACCCTCCCATCCCTCCTTTCCTTCCCACCCTCCCATCCCTCCTT TCCTTCCCTCCCTCCCATCTCTCCTTTCCTTCCCCTCCCTCCCTCCCATC CCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADAMTS3_chr4_72275969_72574221	72456223	A A	AGTATGTA others(636): Show AGTATGTACTCTATATATTTTATATATAGTATGTACTATATATTTTATAT ATAGTATGTACTATATATTTTATATATAGTATGTACTATATATTTTATAT ATAGTATGTACTATATATATTTTATATATAGTATGTACTATATATATTTT ATATATAGTATGTACATTGTATATACTATATATATATTTTATGTATAGTA TGTACTATATATATTTTATGTATAGTATGTACATTGTATATACTATATAT ATATTTTATGTATAGTATGTACTATATATATTTTATGTATAGTATATATA CTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTA TATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTAT GTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATA TACTGTATGTACTATATATATTTCATGTATAGTATATATACTGTATGTAC TATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTT ATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATA TATACTGTATGTACTATATATATTTTATGTATAGTATATATACT	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	182	0.0055	643	c.505 others(662): Show c.505-41253_505-41252insAGTATATATACTATACATAAAATATA TATAGTACATACAGTATATATACTATACATAAAATATATATAGTACATAC AGTATATATACTATACATAAAATATATATAGTACATACAGTATATATACT ATACATAAAATATATATAGTACATACAGTATATATACTATACATGAAATA TATATAGTACATACAGTATATATACTATACATAAAATATATATAGTACAT ACAGTATATATACTATACATAAAATATATATAGTACATACAGTATATATA CTATACATAAAATATATATAGTACATACAGTATATATACTATACATAAAA TATATATAGTACATACAGTATATATACTATACATAAAATATATATAGTAC ATACTATACATAAAATATATATATAGTATATACAATGTACATACTATACA TAAAATATATATAGTACATACTATACATAAAATATATATATAGTATATAC AATGTACATACTATATATAAAATATATATAGTACATACTATATATAAAAT ATATATAGTACATACTATATATAAAATATATAGTACATACTATATATAAA ATATATAGTACATACTATATATAAAATATATAGTACATACTATATATAAA ATATATAGAGTACATAC	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADPRHL1_chr13_113394611_113458488	113419038	C C	CCCCTTCC others(636): Show CCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTC TTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTC CCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTT CCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCC TTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCT TCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTC CTTCTTTTCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCT CCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0106 a0002c0001t0001g0106	1	262	0.0038	643	c.106 others(662): Show c.1061+3787_1061+3788insAGGGGAAGGGGAAGAAAGGAAGGAAG GGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGG GAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAA GGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGA AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGG AAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGG GAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAG GGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAG GGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAA AGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAA AAGAAGGAAGGGAAGGG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCT others(636): Show TGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	391	0.0026	643	c.36 others(654): Show c.3604_*3605insGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCT CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
CARD11_chr7_2901142_3048867	2909378	T T	TGCCCCTC others(636): Show TGCCCCTCACCCCTCCGCCCCCCACCCCTCCGCCCCCACCCTCCGCCTCT CATCCCTCCGCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCCTCACCCC TGCGCCCCTCACCTTCCGCCCCCACCCTCCGCCTCTCATCCCTCCACCCC TCGCCCCTCCGCCCCCACCCCTCCGCCCCTCACCCCTCCGCCCCTCACCC CTGCGCCCCTCACCTTCCGCCTCTCACCCCTCCGCCCCCCACCCCTCCGC CCCCCACCCCTCCGCCCCTCACCCTCCGCCTCTCATCCCTCCGCCCCTCG CCCCTCCGCCCCCACCCCTCCGCCCCCACCCTCCGCCTCTCATCCCTCCG CCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCCTCACCCCTGCGCCCCTC ACCCTCCGCCCCTCACCCCTCCGCCCCCCACCCCTCCGCCCCCCACCCCT CTGCCCCTCACCCTCCGCCTCTCATCCCTCCGCCCCTCACCCCTCCGCCC CTCACCCCTGCGCCCCTCACCCCTCCGCCTCTCACCCCTCCGCCCCCCAC CCCTCCGCCCCTCACCCTCCGCCTCTCATCCCTCCGCCCCTCACCCCTCC GCCCCTCACCCCTCCACCCCTCACCCTCTGCCTCTCACCCCTGC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0118 a0001c0003t0001g0118	1	322	0.0031	643	c.326 others(660): Show c.3260+671_3260+672insGCAGGGGTGAGAGGCAGAGGGTGAGGGG TGGAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGGCGGAG GGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGGTGAGAGGCGGAGGGGTGA GGGGCGCAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGGC GGAGGGTGAGGGGCAGAGGGGTGGGGGGCGGAGGGGTGGGGGGCGGAGGG GTGAGGGGCGGAGGGTGAGGGGCGCAGGGGTGAGGGGCGGAGGGGTGGGG GCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGGGCGGAGG GGTGGGGGCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGAGG GGCGGAGGGGTGGGGGGCGGAGGGGTGGGGGGCGGAGGGGTGAGAGGCGG AAGGTGAGGGGCGCAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGGT GGGGGCGGAGGGGCGAGGGGTGGAGGGATGAGAGGCGGAGGGTGGGGGCG GAAGGTGAGGGGCGCAGGGGTGAGGGGCGGAGGGGTGGGGGCGGAGGGGC GAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGGGCGGAGGGGTGGGGGGC GGAGGGGTGAGGGGC	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24			chr7	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(636): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGTGGGGTGGGGTGGGGGAA GGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTGTGTGG GGCTGGGGAGGGGTGGGTAGGGTGGGGGAAGGGTGCGGGTGGGGTTGGGG AGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGGCTGGGGAGGGGTG GGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGGGGCTACTCCCTGG GTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGGGTGGAGG AGGGGTGGGGGAGGGAGGGATGGGGTGGGGGAAGGGTGTGGGTGGGGGAG GGGTGGGGTGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGG GTGGGGTGGGGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGGGTGGGGG AAGGGTGTGGGTGGGGTGGGGTGGGAGGGGTGGGGTGGGGTGGGAGGGGT GGGGTGGGGTGGGAGGGGGTGGGGTGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	284	0.0035	643	c.712 others(660): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCACCCCACCCCTCCCACCCCACCCCACCCCTCCCACCCCA CCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCCCAC CCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTC CCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCATCCC TCCCTCCCCCACCCCTCCTCCACCCCACCTGCACCCTTCCCCCACCCCAC CCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCTCC CCCTCCCACCCCACCCCACCCCTCCCCAGCCCCACCCATACCCTTCCCCC ACTCCACCCCACCCCTCCCCAACCCCACCCGCACCCTTCCCCCACCCTAC CCACCCCTCCCCAGCCCCACACACACCCTTCCCCCACCCCAACCCTCCCC AGCCCCACCCACACCCTTCCCCCACCCCACCCCACCCCCACCCCACCCCA ACCCTCCCCCACCCCACCCCAACCCTCCCCAGCCCCACACACCCTTCCCC CACCCCAACCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCC ACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CECR2_chr22_17364460_17563151	17524554	G G	GGCTAATT others(636): Show GGCTAATTTTTTGTATTGTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCACTTTTTTTCTG TTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTTTCTTA GATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATAACAGA TCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATAAGTGT ATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGATTTGGC TTTTTGAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTGGCTAA GAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAAAGTTA CTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTTTTTTT TTTTTTTTTTCTCGGTTTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCT CGTCTCACTGCAAGCTCCGCATCCCGGGTTCTCGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCACCCACTACCACGCCCA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0017 a0004c0004t0017	a0004c0004t0017g0313 a0004c0004t0017g0313	1	324	0.0031	643	c.110 others(660): Show c.1108+299_1108+300insGTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCACTTTTT TTCTGTTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTT TCTTAGATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATA ACAGATCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATA AGTGTATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGAT TTGGCTTTTTGAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTG GCTAAGAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAA AGTTACTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTT TTTTTTTTTTTTTTTCTCGGTTTGTCGCCCAGGCTGGAGTGCAGTGGCAC GATCTCGTCTCACTGCAAGCTCCGCATCCCGGGTTCTCGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACTACCACGCCCAG CTAATTTTTTGTATT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CNTN4_chr3_2093866_3062959	2705509	A A	ATATATAA others(636): Show ATATATAAATATATATATAATTTTATATAAATATATATAAATATATATAA TTTTATATAAATATATAAATATATAAAATTTTATATATTTATATATAAAC ATATATAACTTTATATATAAATATATATAATTTTATATATAAATATATAT AATTTTATATATTTATATATAAATTTAATTTTATGTATAAATATATATAA TTATATATATATTTATATATAATTTTATATATAAATATATATAATTATAT ATATTTATGTATAAATATAATTTTATATATAAATATATATAATTTTATAT ATATAATTTTATATATAAATATATATAATTATATATTTATATATAAATAT ATATAATTTTATATATAATATATATAATTTTATATATTATATATAAATAT ATATATAATTATATATAAATATATAAAATTATATATAAATATATATAATT ATATATAAATATATATAATTTATATATAAATATGTATAATTTTATATATA TAAATAGATATAATTTTATATATTTATTTATATAAATTTTATATATTTAT ATAAATAAATATATATTTATATATAAAAATTTATATACAAATATATATAA ATATATACAAATATATATATAAATTTATATAAATATATATAAAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp1 NA19043.hp2 HG01243.hp2 HG02451.hp1 NA19043.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0027 a0001c0001 a0001c0002 a0006c0027	a0001c0001t0002 a0001c0002t0002 a0006c0027t0001 a0001c0001t0002 a0001c0002t0002 a0006c0027t0001	a0001c0001t0002g0086 a0001c0002t0002g0102 a0006c0027t0001g0007 a0001c0001t0002g0086 a0001c0002t0002g0102 a0006c0027t0001g0007	3	116	0.0259	643	c.56- others(660): Show c.56-30706_56-30705insTATATAAATATATATATAATTTTATATA AATATATATAAATATATATAATTTTATATAAATATATAAATATATAAAAT TTTATATATTTATATATAAACATATATAACTTTATATATAAATATATATA ATTTTATATATAAATATATATAATTTTATATATTTATATATAAATTTAAT TTTATGTATAAATATATATAATTATATATATATTTATATATAATTTTATA TATAAATATATATAATTATATATATTTATGTATAAATATAATTTTATATA TAAATATATATAATTTTATATATATAATTTTATATATAAATATATATAAT TATATATTTATATATAAATATATATAATTTTATATATAATATATATAATT TTATATATTATATATAAATATATATATAATTATATATAAATATATAAAAT TATATATAAATATATATAATTATATATAAATATATATAATTTATATATAA ATATGTATAATTTTATATATATAAATAGATATAATTTTATATATTTATTT ATATAAATTTTATATATTTATATAAATAAATATATATTTATATATAAAAA TTTATATACAAATATATATAAATATATACAAATATATATATAAATTTATA TAAATATATATAAAT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24			chr3	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(636): Show CAGTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGAT ATGGGGGTGGGGACAGGGTGCAGTTTATAGATGATATGGGGGTGGGGACA GGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATA GATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGC GGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCA GTTTATAGATAATATGGGGGCGGGGCGGGGGTGTAGCTTATAGATAATAT GGGGGCAGGGCCAGAGTATAGTTTATAGATAATATGGAGGCGGGGCGGGG GTACAGTTTATAGATAATATGGAGGCGGGGCGGGGGTGTAGTTTATAGGT AATATGGAGGTGGGGTAGGGGAGTGCAGTGTATAGATAATATGGGGGGCG GGGCAGGGGGTGTACTTTATAGATAATATGGGGGGCGGGGTAGGGGGTGT AGTTTATAGATAATATGGGGGCGGGGCAGAGGGTGCAATTTATAGATAAT ATGAGGGTGGGGCAGGGGTGCAGTTTGTAGATAATATGGGGGGCAGGGCA GGGGGTGCAGTTTATAGATAATATGGGGGTGGGGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01106.hp2 HG02109.hp1 others(3): Show HG01071.hp2 HG01106.hp2 HG02109.hp1 HG02723.hp1 HG02965.hp1 HG03579.hp2	a0001 a0010 a0001 a0010	a0001c0003 a0001c0006 a0001c0017 others(3): Show a0001c0003 a0001c0006 a0001c0017 a0001c0024 a0001c0069 a0010c0038	a0001c0003t0010 a0001c0006t0001 a0001c0017t0022 others(3): Show a0001c0003t0010 a0001c0006t0001 a0001c0017t0022 a0001c0024t0015 a0001c0069t0013 a0010c0038t0012	a0001c0003t0010g0039 a0001c0006t0001g0108 a0001c0017t0022g0231 others(3): Show a0001c0003t0010g0039 a0001c0006t0001g0108 a0001c0017t0022g0231 a0001c0024t0015g0007 a0001c0069t0013g0178 a0010c0038t0012g0008	6	272	0.0221	643	c.109 others(662): Show c.109+14824_109+14825insGATATGGGGGTGGGGAAGGGATGCAG TTTATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTATAGATGATATG GGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGG GTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGAT AATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGG GGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGTAGCT TATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATAGATAATATGGA GGCGGGGCGGGGGTACAGTTTATAGATAATATGGAGGCGGGGCGGGGGTG TAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCAGTGTATAGATA ATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAATATGGGGGGCGG GGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGCAGAGGGTGCAA TTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTGTAGATAATATG GGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGGGGTGGGGTAGG GGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCDC2_chr6_24166755_24363059	24238180	G G	GGGAGGAA others(636): Show GGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAATGAAGG GAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGA GGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGG GAGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAAG GGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGA GGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGGAGAC AGAGGGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAGGGGGAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	216	0.0046	643	c.923 others(662): Show c.923-33079_923-33078insTTCCCCCTCCCCTCTGTCTCCCCCTT CCCCTCCCCCTCCCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCC CCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCT CCCCCTTCCACTCCCCTCCCCCCTCCCCTCCCCCTCCCCATCCCTCCATT CCTCCATTCCTCCCTCCCTCCCTCCCTCCCTCCATTCCTCCCTCCCTCCC TCCCTTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCATTCCTC CCTCCCTCCCTTCCTCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DIP2C_chr10_269201_694668	556156	G G	GCACCCAC others(636): Show GCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCT CCCACAGCCGGATCCGAGGACAGCACCCACCCCTCCCACAGCCGGATCCC AGGACGGCACCCACCCACCCCTCCCACAGCCAGATCCCAGGACGGCACCC ACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCCTC CCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGAT CCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCA CCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCC TCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGG ATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGG CACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACC CCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCC GGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGAC GGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0076 a0001c0007t0002g0076	1	88	0.0114	643	c.86- others(660): Show c.86-69627_86-69626insGGTGCCGTCCTGGGATCCGGCTGTGGGA GGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGG TGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGG ATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGG GAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTG GGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTG GGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGT GGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGG TGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCC TGGGATCCGGCTGTGGGAGGGGGTGGGTGGGTGCCGTCCTGGGATCCGGC TGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCTGGCTGTGGGAGGGGT GGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGCTGTCCT CGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTG TGGGAGGGGTGGGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
EGF_chr4_109907883_110018766	109921253	T T	TAGAAACT others(636): Show TAGAAACTTCAGTTGTTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATT CCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTAC TGGGTATATACCCAAATGACTATAAATCATGCTGCTATAAAGACACATGC ACACGTATGTTTATTGCAGCATTATTCACAATAGCAAAGACTTGGAACCA ACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATAT ACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTT GTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCA AGAACAAAAAACCAAACACCGCATATTCTGACTCATAGGTGGGAATTGAA CAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTG TGGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAAT GCTAGATGACGAGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATAC ATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTA TAATAAAAATAATTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp1 HG02965.hp2 others(1): Show HG02572.hp1 HG02723.hp1 HG02965.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0020 a0001c0001t0034 a0001c0001t0012 a0001c0001t0020 a0001c0001t0034	a0001c0001t0012g0236 a0001c0001t0020g0233 a0001c0001t0020g0237 others(1): Show a0001c0001t0012g0236 a0001c0001t0020g0233 a0001c0001t0020g0237 a0001c0001t0034g0238	4	388	0.0103	643	c.127 others(660): Show c.127+7807_127+7808insAGTTCAACCATTGTGGAAGTCAGTGTGG CGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCC ATTACTGGGTATATACCCAAATGACTATAAATCATGCTGCTATAAAGACA CATGCACACGTATGTTTATTGCAGCATTATTCACAATAGCAAAGACTTGG AACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCA CATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGT CCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTA TCGCAAGAACAAAAAACCAAACACCGCATATTCTGACTCATAGGTGGGAA TTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGG GACTGTGGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATAC CTAATGCTAGATGACGAGTTAGTGGGTGCAGCGCACCAGCATGGCACATG TATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTA AAGTATAATAAAAATAATTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA GAAACTTCAGTTGTT	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
EIF3B_chr7_2349827_2385745	2377913	C C	CATGGAGG others(636): Show CATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAA TCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTT CTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCC TGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCA GGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	384	0.0026	643	c.215 others(660): Show c.2155-776_2155-775insATGGAGGAAGGAGCAGGCGCGAGCTCTC CTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGC AGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTC ATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAA TGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATG CTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGA GCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGA AGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTG GGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTC TGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCT GGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAG GCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAT GGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATG ACCCTGGGTGTCATG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18			chr7	TogoVar
FGF21_chr19_48750524_48763330	48758867	T T	TCCCAGCA others(636): Show TCCCAGCACTTTGGGAGACCCAGGCGGGCAAATCACCTGAGGTCAGGAGT TCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATAC AAAAATTAGCCAGGTGTGGTAGCACATGCCTGTAAATCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATCGCTTGAATCCCGGAGGTGGAGGTTGCAGTG AGCTGAGATCGAGCCATTGCACTCCAGCCTGGGCGACAGAGCAAGACTCA AAAAGTCTCAAAATAAATAAATAAGTAAACAAATAAATAAAATAAGACCA GGCACCATGGCTTACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAG GTGGATTGCCTGAGGTCAGGAGTTAGAGCAGCCTGGCCAACACAGTGAAA CCCCATCTCTACTAAAAATACAAAAACTAGCCAGACGTGGTGGCGGGCAT CTGTTGTCCCAGCTACTCGGGGGGGGGGGGCTGAGGCAGAAGAATCACTT GAACCTGGGAGGTGGAGGTTGCAGGGAGCCGAGATCGTGCCACTGTCCTC CAGCCTGAGTAGTACAGCAAGACTCTGTCTCAAAAAAATAATAAGTTAAT TTAAAAAATACAAATAGCCAGGCGCGGTGGCTCACGCCTGTAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	456	0.0022	643	c.64 others(652): Show c.647_*648insCCCAGCACTTTGGGAGACCCAGGCGGGCAAATCACC TGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCT CTACCAAAAATACAAAAATTAGCCAGGTGTGGTAGCACATGCCTGTAAAT CCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCCGGAGGT GGAGGTTGCAGTGAGCTGAGATCGAGCCATTGCACTCCAGCCTGGGCGAC AGAGCAAGACTCAAAAAGTCTCAAAATAAATAAATAAGTAAACAAATAAA TAAAATAAGACCAGGCACCATGGCTTACGCCTGTAATCCCAGCACTTTGG GAAGCTGAGGCAGGTGGATTGCCTGAGGTCAGGAGTTAGAGCAGCCTGGC CAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAACTAGCCAGACG TGGTGGCGGGCATCTGTTGTCCCAGCTACTCGGGGGGGGGGGGCTGAGGC AGAAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGGGAGCCGAGATCG TGCCACTGTCCTCCAGCCTGAGTAGTACAGCAAGACTCTGTCTCAAAAAA ATAATAAGTTAATTTAAAAAATACAAATAGCCAGGCGCGGTGGCTCACGC CTGTAAA	FGF21	ENSG00000105550.10	transcript	ENST00000593756.6	protein_coding		538		chr19	TogoVar
GDF3_chr12_7684784_7700775	7688838	C C	CTACTCGG others(636): Show CTACTCGGGAGGCTGAGGCAGGATAATCGACTGAACCCAGGGGGCGGAGG CTGCAGAGAGCTGAGATTGTGCCACTACACACCAGCCTGGGTGACAGAGT GAAACCCTGTCTCAAAATATTTCTTTTCTATTTTTTTTTTTTTCGAGACA GAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCT CACTGCAACCTCTGCCTCCCCCAGGTTCAAGCGATTCTCCTGCCTCAGCC TCCCGAGTAGCTGAGATTACAGGCACCCACCACCACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCCGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGG GATTACAGGTGTGAGCCACCGCACCCAGCCCTCAAAATTAAATAAATAAA ATAAAATAAAATTATATGTACAATGAGCCGGGCACGGTGGCTCACCCCTG TAATCCCAGAACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAG ATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGTGTGGTGGTGGGTGCCTGTAGTCCCAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0109 a0002c0002t0001g0109	1	468	0.0021	643	c.10 others(654): Show c.1039_*1040insACTGGGACTACAGGCACCCACCACCACACCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGA TGGTCTCAATCTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGT TCTGGGATTACAGGGGTGAGCCACCGTGCCCGGCTCATTGTACATATAAT TTTATTTTATTTTATTTATTTAATTTTGAGGGCTGGGTGCGGTGGCTCAC ACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGG TCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTAATCTCAG CTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGGGAGGCAGA GGTTGCAGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAG AGTGAAACTCTGTCTCGAAAAAAAAAAAAATAGAAAAGAAATATTTTGAG ACAGGGTTTCACTCTGTCACCCAGGCTGGTGTGTAGTGGCACAATCTCAG CTCTCTGCAGCCTCCGCCCCCTGGGTTCAGTCGATTATCCTGCCTCAGCC TCCCGAGTA	GDF3	ENSG00000184344.4	transcript	ENST00000329913.4	protein_coding		945		chr12	TogoVar
GSE1_chr16_85608322_85681200	85653220	T T	TCCTCCCC others(636): Show TCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCC CCTCCTCCCCCCTCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCT CCCCCCTCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCTCCCCCC TCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCTCCCCCCTCC TCCCCCCTCCTCCCCCCCCTCCCCCCTCCTCCCCCCCTCCCCCCTCCTCC CCCCTCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCTCCCCC CTCCTCCCCCCTCCTCCCCCCCCTCCCCCCTCCCCCCTCCTCCCCCCTCC TCCCCCCTCCTCCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTC CCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCTCCCCCCTCCTCCTC CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCTCCTCCC CCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCTCCCCC CTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTC CTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCC	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0069 a0002c0069	a0002c0069t0002 a0002c0069t0002	a0002c0069t0002g0024 a0002c0069t0002g0024	1	290	0.0035	643	c.427 others(660): Show c.427-1053_427-1052insCCCCTCCTCCCCCCTCCTCCCCCCTCCT CCCCCCTCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCTCCCCCC TCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCTCCCCCCTCCTCC CCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCCC TCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCTCCTCCCC CCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCTCCCCCCTCCTCCCC CCCTCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCTCCC CCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCTCCTCCCCC CTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCC CTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCC TCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCCCC CTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTC CTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCT CCTCCTCCCCCCTCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TAATATAT others(636): Show TAATATATATATGGAATATATATATACGGAATATATATATAATATATATG GAATATATATAAACGGAATATATATATAATATATATACGGAATATATATA TACGGAATATATATAATATATATACGGAATATATATATAATATATATATA ATATATATACGGAATATATATATAATATATAAATGGAATATATATACGGA ATATATATATAATATATAAATGGAATATATATATACGGAATATATATATA ATATATATATGGAATATATATATACGGAATATATATATAATATATATATG GAATATATATATACGGAATATATATATAATATATATATGGAATATATATA TACGGAATATATATATAATATATATATGGAATATATATATACGGAATATA TATATAATATATATATGGAATATATATATACGGAATATATATATAATATA TATATGGAATATATATATATGGAATGTGTATATATGGAATATATATATAT GGAATGTGTATATATGGAATATATATATATGGAATGTGTATATATGGAAT ATATATATGGAATATATATATATGGAATATATATATGGAATATATATATA TGGAATATATATATGGAATATATATATATGGAATATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0134 a0001c0001t0035g0134	1	323	0.0031	643	c.-21 others(654): Show c.-2147_-2146insAATATATATATGGAATATATATATACGGAATATA TATATAATATATATGGAATATATATAAACGGAATATATATATAATATATA TACGGAATATATATATACGGAATATATATAATATATATACGGAATATATA TATAATATATATATAATATATATACGGAATATATATATAATATATAAATG GAATATATATACGGAATATATATATAATATATAAATGGAATATATATATA CGGAATATATATATAATATATATATGGAATATATATATACGGAATATATA TATAATATATATATGGAATATATATATACGGAATATATATATAATATATA TATGGAATATATATATACGGAATATATATATAATATATATATGGAATATA TATATACGGAATATATATATAATATATATATGGAATATATATATACGGAA TATATATATAATATATATATGGAATATATATATATGGAATGTGTATATAT GGAATATATATATATGGAATGTGTATATATGGAATATATATATATGGAAT GTGTATATATGGAATATATATATGGAATATATATATATGGAATATATATA TGGAATATATATATATGGAATATATATATGGAATATATATATATGGAATA TATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(636): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGA GGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGG GCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGA GGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGA GAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATG GGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGC AGGGAGGACGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGG GAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGG GGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGG AGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	204	0.0049	643	c.978 others(660): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGG CAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAG GAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAG AGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGG CAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAG GGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGA GGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GGGGCAGGGAGGAGAGATGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGG GCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGAAACGGGCA GGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGA GGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAG GGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGA GGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(636): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCTCACAGCCACCCCCC CACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCACAGC CGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCCAC AGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCAC CCCCACAGCCGCCCCCCACAGCCACCCCCCCAAAGCCACCTCCCCACAGC CGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCA CAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCCAAAGCCACCTCC CACAGCCATCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACC CCCCACAGCCATCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCC ACCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACA GCCGCCCCCCACAGCCGCCCCCCACAGCCGCCCCCGCAGCCGCCCCCCCA CAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	312	0.0032	643	c.-41 others(658): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCTCACAGCCACCCCC CCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCACAG CCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCCA CAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCC CCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCA CCCCCACAGCCGCCCCCCACAGCCACCCCCCCAAAGCCACCTCCCCACAG CCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCC ACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCCAAAGCCACCTC CCACAGCCATCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCAC CCCCCACAGCCATCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGC CACCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCACAGCCGCCCCCGCAGCCGCCCCCCC ACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCTGCCCC CACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(636): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGA GAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAG AGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGA GGGGAGGAGGAGGAGAGGAAGGAGGAGGGGAGGAGGAGGCAGAAAGGAGG AAGGAGGGGGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0137 a0001c0001t0071g0137	1	386	0.0026	643	c.-46 others(654): Show c.-4676_-4675insTCCCTCCTCCTCCCGGACTCTTTCCTCTCCTCCT CCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTCTCCT CCTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCTCTC CTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTCCCC TCCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTCCTC TCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCT CCTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCTTTC TCCCTCCTCCTCCTTCCCTCCTCCTTTCTCTTCTTTTCTCCCACTTCTCC CTCCTCCCCTTCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTTCTC CTCTTTTGTCCCTCCTCTCCCTCCTCCCTTTCACCTTTTCCTCCTCCTCC CCTCCTCCTTTCTCCCTCCCCCTCCCCTCATCTTTTCTCCCTCCTCCTCC TCTCCTCTTTCTCCTCCTCTATTCTCCCTCCTCTCCCTTCTCCCCCTTCA CTTCTTCCTTCTCCTTCTTTCCTTCCTCCTCCTCCTCTTTTCTCCCTCCA CCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(636): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGG AGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGG AGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGG GGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGG AGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAA GAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGG AGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAG AGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	386	0.0026	643	c.-46 others(654): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCTC CTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTGCCTC CTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCTCTCC TCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTCCCCT CCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTCCTCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTC CTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCTTTCT CCCTCCTCCTCCTTCCCTCCTCCTTTCTCTTCTTTTCTCCCACTTCTCCC TCCTCCCCCTTCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTTCTC CTCTTTTGTCCCTCCTCTCCCTCCTCCCTTTCACCTTTTCCTCCTCCTCC CCTCCTCCTTTCTCCCTCCCCCTCCCCTCATCTTTTCTCCCTCCTCCTCC TCTCCTCTTTCTCCTCCTCTATTCTCCCTCCTCTCCCTTCTCCCCCTTCA CTTCTTCCTTCTCCTTCTTTCCTTCCTCCTCCTCCTCTTTTCTCCCTCCA CCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(636): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAG GGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTG AAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGG AGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGG AGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGG GGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGG AGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAA GAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGG AGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAG AGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0065 a0001c0001t0057g0065	1	386	0.0026	643	c.-46 others(654): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCTC CTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTGCCTC CTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCTCTCC TCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTCCCCT CCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTCCTCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTC CTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCTTTCT CCCTCCTCCTCCTTCCCTCCTCCTTTCTCTTCTTTTCTCCCACTTCTCCC TCCTCCCCTTCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTTCTCC TCTTTTGTCCCTCCTCTCCCTCCTCCCTTTCACCTTTTCCTCCTCCTCCC CCTCCTCCTTTCTCCCTCCCCCTCCCCTCATCTTTTCTCCCTCCTCCTCC TCTCCTCTTTCTCCTCCTCTATTCTCCCTCCTCTCCCTTCTCCCCCTTCA CTTCTTCCTTCTCCTTCTTTCCTTCCTCCTCCTCCTCTTTTCTCCCTCCA CCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KIF25_chr6_167992671_168050091	167997395	A A	ATCTGCAG others(636): Show ATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATC TGCAGAGATGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCT GCAGAGATGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAGTCTGCA GAGATGGGGGCCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	375	0.0027	643	c.-20 others(654): Show c.-2074_-2073insTCTGCAGAGATGGGGCGACGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGGTCGGGGGAATCTGCAGAGATGGCGACGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGG GGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GGGTCGGGGGAATCTGCAGAGATGGCGACGGGGGAATCTGCAGAGATGGG GGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGG GGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGG GCGGGGGAGTCTGCAGAGATGGGGGCCGGGGGAATCTGCAGAGATGGGGG GCGGGGGAG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		275		chr6	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(636): Show AATATATAATTATATTCTATATAGAATATAATTATATAATATATAATTAT ATTCTATATAATATAATTATATAATATATAATTATATTCTATATAATATA ATTATATAATATATAATTATATTCTATATAGAATATAATTATATAATATA TAATTATATTCTATATTATATAATTATAATATAATTATATAATATAATTA TATTATATATAATTATATTAAATATATTATATAATATATAATTATATTAT ATATGATATAATATATAATTATATTATATATGATATCATATATAATTATA TTATATATTATATCATATATAATTATATTATATATTATATCATATATAAT TATATTATATATTATATCATATATAATTATATTATATATTATATCATATA TAATTATATTATATATTATAATACATTTAATATAATTATATTATAGATTA TAATCTATAATATAATTATATTAATAGTATTATAATATATAATATATTAT ATATAATTATATTATAACATATTATATATAATTATATTATAGATCATAAT CTATAATATAATTATATATAATATGTTATAATATATAATTATATTCTATA TATAATTATATATAATATAATTATATTCTATATAGAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0005 a0002c0004t0001g0005	1	288	0.0035	643	c.-32 others(654): Show c.-3200_-3199insAATTATATTCTATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATATGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATGATATAATATATAATATAATTATATATGATATAAT ATATAATATAATTATATATGATATAATATATAATATAATTATATATGATA TAATATATAATATAATTATATATGATATCATATATAATATAATTATATAT TATATCATATATAATATAATTATATATTATATAATATATTTAATATAATT ATATATAATATAATTATATTATATAATTATATTATAATTATATAATATAG AATATAATTATATATTATATAATTATATTCTATATAGAATATAATTATAT ATTATATAATTATATTATATAGAATATAATTATATATTATATAATTATAT TATATAGAATATAATTATATATTATATAATTATATTCTATATAGAATATA ATTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(636): Show CTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATGTATGTAT ACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTAT ACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATAC CGTATATATACACAGTATGTATACTGTGTATATATACACAGTATGTATAC TGCATACAGTATGTATACTGTATACATACTGCATGCAGTATGTATACTGT ATACATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTATG TATACTGTATATATACACTATACAGTATGTATACTGTATATATACACTAT ACAGTATGTATACTGTATATATACACAATACAGTATGTATACTGTATATA TACACAATACAGTATGTATACTGTATATATACACACAGTATGTATACTGT ATATATACACACAGTATGTATACTGTATATATACACACAGTATGTATACT GTATATATACACACAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0110 a0002c0015t0001g0110	1	362	0.0028	643	c.-75 others(662): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTATTGTGTATATATACAGTATACATACTGTATTGTGTATAT ATACAGTATACATACTGTATAGTGTATATATACAGTATACATACTGTATA GTGTATATATACAGTATACATACTGCATGCAGTATGTATACAGTATACAT ACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTATGTATACA GTATACATACTGTATGCAGTATACATACTGTGTATATATACACAGTATAC ATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACAT ACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATAC TGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATACTG TGTATATATACGGTATACATACTGTGTATATATACGGTATACATACATAC AGTATACATACATACAGTATACATACATACAGTATACATGCTGTATACAG TATACATGCTGTATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NKAIN2_chr6_123798865_124830640	124687566	T T	TATATTCC others(636): Show TATATTCCATACATATACATACATGGTATATATTCCATATATACATACAT GGTATATATTCCTATATATACATACATGGTATATATTCCATATATATACA TACATGGTATATATTCCATATATATATACACATACATGGTATATATTCCA TATATATATACACATACATGGTATATATTCCATATATACATACATGGTAT ATATTCCTATATATACATACATGGTATATATTCCTATATATACATACATG GTATATATTCCATATATATACATACATGGTATATATTCCATATATATATA CATACATGGTATATATTCCATATATATACATACATGGAATATATATATTC CATACATGGAATATATATATTCCATATATACATATATATATTCCATATAT ACACATATATATATTCCATATATACACATATACATGGAATATATATCTGT ATATATATGGAATATATATATGTATATATATGAAATATATATGTATATGT ATTTATATTATGTATTTATATTATAAATATATATTATGTATATATATTTA TATTATAAATATATATTATGTATATATATTTATAATATATATATTATGTA TATATATTTATATTATAAATATATATTATGTATATATATTTATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	66	0.0152	643	c.474 others(662): Show c.474+29184_474+29185insTCCATACATATACATACATGGTATAT ATTCCATATATACATACATGGTATATATTCCTATATATACATACATGGTA TATATTCCATATATATACATACATGGTATATATTCCATATATATATACAC ATACATGGTATATATTCCATATATATATACACATACATGGTATATATTCC ATATATACATACATGGTATATATTCCTATATATACATACATGGTATATAT TCCTATATATACATACATGGTATATATTCCATATATATACATACATGGTA TATATTCCATATATATATACATACATGGTATATATTCCATATATATACAT ACATGGAATATATATATTCCATACATGGAATATATATATTCCATATATAC ATATATATATTCCATATATACACATATATATATTCCATATATACACATAT ACATGGAATATATATCTGTATATATATGGAATATATATATGTATATATAT GAAATATATATGTATATGTATTTATATTATGTATTTATATTATAAATATA TATTATGTATATATATTTATATTATAAATATATATTATGTATATATATTT ATAATATATATATTATGTATATATATTTATATTATAAATATATATTATGT ATATATATTTATAATAT	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN2_chr6_123798865_124830640	124687566	T T	TATATTCC others(636): Show TATATTCCATATATATACATACATGGTATATATTCCATATATACATACAT GGTATATATTCCTATATATACATACATGGTATATATTCCATATATATACA TACATGGTATATATTCCATATATATACATACATGGTATATATTCCATATA TATATACATACATGGTATATATTCCATATATATATACACACATACATGGT ATATATTCCATATATACATACATGGTATATATTCCTATATATACATACAT GGTATATATTCCAATATATACATACATGGTATATATTCCATATATATACA TACATGGTATATATTCCATATATATATACATACATGGTATATATTCCATA TATATACATACATGGAATATATATATTCCATACATGGAATATATATATTC CATATATACATATATATATTCCATATATACACAGATATATATTCCATATA TACACATATACATGGAATATATATCTGTATATATATGGAATATATATATG TATATATATGAAATATATATGTATATGTATTTATATTATGTATTTATATT ATAAATATATATTATGTATATATATTTATATTATAAATATATATTATGTA TATATATTTATATTATAAATATATATTATGTATATATATTTATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	66	0.0152	643	c.474 others(662): Show c.474+29184_474+29185insTCCATATATATACATACATGGTATAT ATTCCATATATACATACATGGTATATATTCCTATATATACATACATGGTA TATATTCCATATATATACATACATGGTATATATTCCATATATATACATAC ATGGTATATATTCCATATATATATACATACATGGTATATATTCCATATAT ATATACACACATACATGGTATATATTCCATATATACATACATGGTATATA TTCCTATATATACATACATGGTATATATTCCAATATATACATACATGGTA TATATTCCATATATATACATACATGGTATATATTCCATATATATATACAT ACATGGTATATATTCCATATATATACATACATGGAATATATATATTCCAT ACATGGAATATATATATTCCATATATACATATATATATTCCATATATACA CAGATATATATTCCATATATACACATATACATGGAATATATATCTGTATA TATATGGAATATATATATGTATATATATGAAATATATATGTATATGTATT TATATTATGTATTTATATTATAAATATATATTATGTATATATATTTATAT TATAAATATATATTATGTATATATATTTATATTATAAATATATATTATGT ATATATATTTATAATAT	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NLRP8_chr19_55942832_55993629	55993508	C C	CCCCCTCC others(636): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCCCTCC CCTCCCCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCCCCTCCCCCCCTCCCCTCCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCCCCCTCCCCC CCTCCCCCCCTCCCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCCCT CCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCCCCCCCCTCCCCCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCCCCCTCCCCCCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0017 a0003c0004t0017	a0003c0004t0017g0218 a0003c0004t0017g0218	1	350	0.0029	643	c.55 others(654): Show c.5595_*5596insCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CCCCTCCCCCCCTCCCCTCCCCCCCTCCCCCCCCTCCCCTCCCCTCCCCT CCCCCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCCCTCCCCCCCTC CCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCT CCCCCCCCCTCCCCCCCTCCCCCCCTCCCCCCTCCCCCCCTCCCCTCCCC CTCCCCTCCCCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCCCCCCCCCTCCCCCCCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCCCCC TCCCCCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC CCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4880		chr19	TogoVar

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