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
KIF1A_chr2_240708767_240825219	240812924	A A	AGCCTTCA others(600): Show AGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTC GGAGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCT TCACCTCAGGGATCTGCCTTCACCTCAAGGATCCGCCTTCACCTCAAGGA TCCACCTTCACCTCAGGGATCAGCCTTCACCTCGAGATCCACCTTCACCT CAGGCAGGGATCAGCCTTCACCTCAGGGATCTGCCTTCACCTCGGGGATC CGCCTTCACCTCGGGATCTGCCTTCACCTCTGGGTCCGCCTTCACCTCAA GATCCACCTTCACCTCAGGGATCAGCCTTCACCTCGGGGATCTGCCTTCA CCTCGGGGATCAGCCATCACTCGGGGATCCGCCTTCACCTCGGGGATCCG CCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGG GGATCCGCCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCCGCCTTC ACCTCAAGGATCCACCTTCACCTCGGGGATCAGCCTTCACCTCGGGGATC CGCCTTCACCTCGGGGATCAGCCTTCACCTCAAGGATCCGCCTTCACCTC GGGGATCC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0120 a0002c0002t0003g0120	1	330	0.0030	607	c.-61 others(624): Show c.-61+7197_-61+7198insGGATCCCCGAGGTGAAGGCGGATCCTTG AGGTGAAGGCTGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTG ATCCCCGAGGTGAAGGTGGATCCTTGAGGTGAAGGCGGATCCCCGAGGTG AAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTGATCCC CGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGC GGATCCCCGAGTGATGGCTGATCCCCGAGGTGAAGGCAGATCCCCGAGGT GAAGGCTGATCCCTGAGGTGAAGGTGGATCTTGAGGTGAAGGCGGACCCA GAGGTGAAGGCAGATCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCAG ATCCCTGAGGTGAAGGCTGATCCCTGCCTGAGGTGAAGGTGGATCTCGAG GTGAAGGCTGATCCCTGAGGTGAAGGTGGATCCTTGAGGTGAAGGCGGAT CCTTGAGGTGAAGGCAGATCCCTGAGGTGAAGGCGGATCCCCGAGGTGAA GGCGGATCCCCGAGGTGAAGGCAGATCTCCGAGGTGAAGGCGGATCCCCG AGGTGAAGGCGGATCCCCGAGGTGAAGGC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240812924	A A	AGCCTTCA others(600): Show AGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTC GGAGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCT TCACCTCGGGGATCTGCCTTCACCTCAAGGATCCGCCTTCACCTCAAGGA TCCACCTTCACCTCAGGGATCAGCCTTCACCTCGAGATCCACCTTCACCT CAGGCAGGGATCAGCCTTCACCTCAGGGATCTGCCTTCACCTCGGGGATC CGCCTTCACCTCGGGATCTGCCTTCACCTCTGGGTCCGCCTTCACCTCAA GATCCACCTTCACCTCAGGGATCAGCCTTCACCTCAGGGATCTGCCTTCA CCTCGGGGATCAGCCATCACTCGGGGATCCGCCTTCACCTCGGGGATCCG CCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGG GGATCCGCCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCCGCCTTC ACCTCAAGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGGGGATC CGCCTTCACCTCGGGGATCAGCCTTCACCTCAAGGATCCGCCTTCACCTC GGGGATCC	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0029 a0001c0006t0002g0029	1	330	0.0030	607	c.-61 others(624): Show c.-61+7197_-61+7198insGGATCCCCGAGGTGAAGGCGGATCCTTG AGGTGAAGGCTGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTG ATCCCCGAGGTGAAGGCGGATCCTTGAGGTGAAGGCGGATCCCCGAGGTG AAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTGATCCC CGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGC GGATCCCCGAGTGATGGCTGATCCCCGAGGTGAAGGCAGATCCCTGAGGT GAAGGCTGATCCCTGAGGTGAAGGTGGATCTTGAGGTGAAGGCGGACCCA GAGGTGAAGGCAGATCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCAG ATCCCTGAGGTGAAGGCTGATCCCTGCCTGAGGTGAAGGTGGATCTCGAG GTGAAGGCTGATCCCTGAGGTGAAGGTGGATCCTTGAGGTGAAGGCGGAT CCTTGAGGTGAAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAA GGCGGATCCCCGAGGTGAAGGCAGATCTCCGAGGTGAAGGCGGATCCCCG AGGTGAAGGCGGATCCCCGAGGTGAAGGC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240812924	A A	AGCCTTCA others(600): Show AGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTC GGAGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCT TCACCTCGGGGATCTGCCTTCACCTCAAGGATCCGCCTTCACCTCAAGGA TCCACCTTCACCTCAGGGATCAGCCTTCACCTCGAGATCCACCTTCACCT CAGGCAGGGATCAGCCTTCACCTCAGGGATCTGCCTTCACCTCGGGGATC CGCCTTCACCTCGGGATCTGCCTTCACCTCTGGGTCCGCCTTCACCTCAA GATCCACCTTCACCTCAGGGATCAGCCTTCACCTCGGGGATCTGCCTTCA CCTCGGGGATCAGCCATCACTCGGGGATCCGCCTTCACCTCGGGGATCCG CCTTCACCTCGGGGATCCACCTTCACCTCGGGGATCAGCCTTCACCTCGG GGATCCGCCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCCGCCTTC ACCTCAAGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGGGGATC CGCCTTCACCTCGGGGATCAGCCTTCACCTCAAGGATCCGCCTTCACCTC GGGGATCC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 NA20905.hp2 HG01257.hp2 HG01258.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0288 a0002c0002t0002g0286 a0002c0002t0002g0287 a0002c0002t0001g0288 a0002c0002t0002g0286 a0002c0002t0002g0287	3	330	0.0091	607	c.-61 others(624): Show c.-61+7197_-61+7198insGGATCCCCGAGGTGAAGGCGGATCCTTG AGGTGAAGGCTGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTG ATCCCCGAGGTGAAGGCGGATCCTTGAGGTGAAGGCGGATCCCCGAGGTG AAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTGATCCC CGAGGTGAAGGTGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGC GGATCCCCGAGTGATGGCTGATCCCCGAGGTGAAGGCAGATCCCCGAGGT GAAGGCTGATCCCTGAGGTGAAGGTGGATCTTGAGGTGAAGGCGGACCCA GAGGTGAAGGCAGATCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCAG ATCCCTGAGGTGAAGGCTGATCCCTGCCTGAGGTGAAGGTGGATCTCGAG GTGAAGGCTGATCCCTGAGGTGAAGGTGGATCCTTGAGGTGAAGGCGGAT CCTTGAGGTGAAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAA GGCGGATCCCCGAGGTGAAGGCAGATCTCCGAGGTGAAGGCGGATCCCCG AGGTGAAGGCGGATCCCCGAGGTGAAGGC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240812924	A A	AGCCTTCA others(600): Show AGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTC GGAGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCT TCACCTCGGGGATCTGCCTTCACCTCAAGGATCCGCCTTCACCTCAAGGA TCCACCTTCACCTCAGGGATCAGCCTTCACCTCGAGATCCACCTTCACCT CAGGCAGGGATCAGCCTTCACCTCAGGGATCTGCCTTCACCTCGGGGATC CGCCTTCACCTCGGGATCTGCCTTCACCTCTGGGTCCGCCTTCACCTCAA GATCCACCTTCACCTCAGGGATCAGCCTTCACCTCGGGGATCTGCCTTCA CCTCGGGGATCAGCCATCACTCGGGGATCCGCCTTCACCTCGGGGATCCG CCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGG GGATCCACCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCCGCCTTC ACCTCAAGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGGGGATC CGCCTTCACCTCGGGGATCAGCCTTCACCTCAAGGATCCGCCTTCACCTC GGGGATCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02647.hp1 HG02818.hp1 others(1): Show HG02258.hp2 HG02647.hp1 HG02818.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0004 a0001c0005t0001 a0001c0001t0004 a0001c0005t0001	a0001c0001t0004g0209 a0001c0005t0001g0207 a0001c0005t0001g0208 others(1): Show a0001c0001t0004g0209 a0001c0005t0001g0207 a0001c0005t0001g0208 a0001c0005t0001g0210	4	330	0.0121	607	c.-61 others(624): Show c.-61+7197_-61+7198insGGATCCCCGAGGTGAAGGCGGATCCTTG AGGTGAAGGCTGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTG ATCCCCGAGGTGAAGGCGGATCCTTGAGGTGAAGGCGGATCCCCGAGGTG AAGGCAGATCCCCGAGGTGAAGGTGGATCCCCGAGGTGAAGGCTGATCCC CGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGC GGATCCCCGAGTGATGGCTGATCCCCGAGGTGAAGGCAGATCCCCGAGGT GAAGGCTGATCCCTGAGGTGAAGGTGGATCTTGAGGTGAAGGCGGACCCA GAGGTGAAGGCAGATCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCAG ATCCCTGAGGTGAAGGCTGATCCCTGCCTGAGGTGAAGGTGGATCTCGAG GTGAAGGCTGATCCCTGAGGTGAAGGTGGATCCTTGAGGTGAAGGCGGAT CCTTGAGGTGAAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAA GGCGGATCCCCGAGGTGAAGGCAGATCTCCGAGGTGAAGGCGGATCCCCG AGGTGAAGGCGGATCCCCGAGGTGAAGGC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240812924	A A	AGCCTTCA others(600): Show AGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTC GGAGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCT TCACCTCGGGGATCTGCCTTCACCTCAAGGATCCGCCTTCACCTCAAGGA TCCACCTTCACCTCAGGGATCAGCCTTCACCTCGAGATCCACCTTCACCT CAGGCAGGGATCAGCCTTCACCTCAGGGATCTGCCTTCACCTCGGGGATC CGCCTTCACCTCGGGATCTGCCTTCACCTCTGGGTCCGCCTTCACCTCAA GATCCACCTTCACCTCAGGGATCAGCCTTCACCTCGGGGATCTGCCTTCA CCTCGGGGATCAGCCATCACTCGGGGATCCGCCTTCACCTCGGGGATCCG CCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGG GGATCCGCCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCCGCCTTC ACCTCAAGGATCCACCTTCACCTCGGGGATCAGCCTTCACCTCGGGGATC CGCCTTCACCTCGGGGATCAGCCTTCACCTCAAGGATCCGCCTTCACCTC GGGGATCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp1 others(52): Show HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00597.hp2 HG00642.hp1 HG00673.hp2 HG01069.hp1 HG01074.hp1 HG01168.hp1 HG01175.hp1 HG01358.hp2 HG01943.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp1 HG02083.hp1 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02257.hp1 HG02451.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02809.hp1 HG02895.hp2 HG02965.hp1 HG03195.hp1 HG03209.hp2 HG03490.hp1 HG03492.hp2 HG06807.hp1 NA18939.hp2 NA18948.hp2 NA18950.hp2 NA18959.hp1 NA18961.hp1 NA18963.hp2 NA18964.hp2 NA18969.hp2 NA18980.hp2 NA18990.hp2 NA18993.hp1 NA18995.hp2 NA18999.hp1 NA19009.hp1 NA19010.hp1 NA19043.hp1 NA19054.hp2 NA19067.hp1 NA19091.hp2 NA20129.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0001c0003 a0001c0004 others(11): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0012 a0001c0018 a0001c0051 a0002c0002 a0002c0014 a0002c0047 a0003c0038 a0004c0016 a0008c0041	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0001t0016 a0001c0001t0026 a0001c0001t0047 a0001c0003t0001 a0001c0003t0003 a0001c0003t0008 a0001c0003t0011 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0004t0012 a0001c0004t0021 a0001c0004t0037 a0001c0006t0002 a0001c0007t0001 a0001c0007t0008 a0001c0012t0005 a0001c0012t0006 a0001c0018t0002 a0001c0051t0017 a0002c0002t0001 a0002c0002t0007 a0002c0014t0002 a0002c0047t0001 a0003c0038t0031 a0004c0016t0015 a0008c0041t0002	a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 others(52): Show a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0107 a0001c0001t0002g0080 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0003g0086 a0001c0001t0004g0068 a0001c0001t0004g0088 a0001c0001t0005g0069 a0001c0001t0005g0081 a0001c0001t0005g0087 a0001c0001t0005g0102 a0001c0001t0005g0104 a0001c0001t0005g0110 a0001c0001t0005g0128 a0001c0001t0006g0114 a0001c0001t0015g0084 a0001c0001t0015g0085 a0001c0001t0016g0116 a0001c0001t0026g0079 a0001c0001t0047g0083 a0001c0003t0001g0089 a0001c0003t0003g0112 a0001c0003t0008g0103 a0001c0003t0011g0118 a0001c0004t0001g0071 a0001c0004t0002g0073 a0001c0004t0002g0074 a0001c0004t0005g0070 a0001c0004t0005g0077 a0001c0004t0012g0100 a0001c0004t0021g0072 a0001c0004t0037g0004 a0001c0006t0002g0095 a0001c0007t0001g0075 a0001c0007t0008g0076 a0001c0007t0008g0078 a0001c0012t0005g0109 a0001c0012t0006g0062 a0001c0012t0006g0113 a0001c0018t0002g0097 a0001c0018t0002g0098 a0001c0051t0017g0101 a0002c0002t0001g0082 a0002c0002t0001g0099 a0002c0002t0001g0105 a0002c0002t0007g0111 a0002c0014t0002g0117 a0002c0047t0001g0115 a0003c0038t0031g0119 a0004c0016t0015g0094 a0008c0041t0002g0093	55	330	0.1667	607	c.-61 others(624): Show c.-61+7197_-61+7198insGGATCCCCGAGGTGAAGGCGGATCCTTG AGGTGAAGGCTGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTG ATCCCCGAGGTGAAGGTGGATCCTTGAGGTGAAGGCGGATCCCCGAGGTG AAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTGATCCC CGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGC GGATCCCCGAGTGATGGCTGATCCCCGAGGTGAAGGCAGATCCCCGAGGT GAAGGCTGATCCCTGAGGTGAAGGTGGATCTTGAGGTGAAGGCGGACCCA GAGGTGAAGGCAGATCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCAG ATCCCTGAGGTGAAGGCTGATCCCTGCCTGAGGTGAAGGTGGATCTCGAG GTGAAGGCTGATCCCTGAGGTGAAGGTGGATCCTTGAGGTGAAGGCGGAT CCTTGAGGTGAAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAA GGCGGATCCCCGAGGTGAAGGCAGATCTCCGAGGTGAAGGCGGATCCCCG AGGTGAAGGCGGATCCCCGAGGTGAAGGC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240812924	A A	AGCCTTCA others(600): Show AGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTC GGAGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCT TCACCTCGGGGATCTGCCTTCACCTCAAGGATCCGCCTTCACCTCAAGGA TCCACCTTCACCTCAGGGATCAGCCTTCACCTCGAGATCCACCTTCACCT CAGGCAGGGATCAGCCTTCACCTCAGGGATCTGCCTTCACCTCGGGGATC CGCCTTCACCTCGGGATCTGCCTTCACCTCTGGGTCCGCCTTCACCTCAA GATCCACCTTCACCTCAGGGATCAGCCTTCACCTCGGGGATCTGCCTTCA CCTCGGGGATCAGCCATCACTCGGGGATCCGCCTTCACCTCGGGGATCCG CCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGG GGATCCGCCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCCGCCTTC ACCTCAAGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGGGGATC CGCCTTCACCTCGGGGATCAGCCTTCACCTCAAGGATCCGCCTTCACCTC GGGGATCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(153): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02735.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18950.hp1 NA18951.hp2 NA18959.hp2 NA18960.hp2 NA18963.hp1 NA18967.hp1 NA18967.hp2 NA18973.hp1 NA18973.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19074.hp2 NA19077.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0003 a0001c0004 others(23): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0015 a0001c0019 a0001c0022 a0001c0031 a0001c0034 a0001c0042 a0001c0043 a0001c0045 a0002c0002 a0002c0010 a0002c0013 a0002c0021 a0002c0026 a0003c0009 a0003c0036 a0004c0016 a0005c0029 a0006c0040 a0007c0039	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(66): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0001t0040 a0001c0001t0045 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0008 a0001c0003t0018 a0001c0003t0030 a0001c0004t0001 a0001c0004t0004 a0001c0004t0005 a0001c0004t0006 a0001c0004t0012 a0001c0004t0025 a0001c0005t0007 a0001c0006t0001 a0001c0006t0005 a0001c0006t0006 a0001c0006t0013 a0001c0007t0017 a0001c0008t0001 a0001c0008t0004 a0001c0008t0009 a0001c0015t0009 a0001c0019t0010 a0001c0022t0006 a0001c0031t0003 a0001c0034t0001 a0001c0042t0020 a0001c0043t0022 a0001c0045t0006 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0008 a0002c0002t0011 a0002c0002t0012 a0002c0002t0013 a0002c0002t0021 a0002c0002t0023 a0002c0002t0042 a0002c0002t0046 a0002c0010t0001 a0002c0010t0004 a0002c0013t0003 a0002c0013t0011 a0002c0021t0002 a0002c0026t0011 a0003c0009t0006 a0003c0009t0007 a0003c0036t0008 a0004c0016t0004 a0005c0029t0001 a0006c0040t0003 a0007c0039t0003	a0001c0001t0001g0197 a0001c0001t0001g0293 a0001c0001t0002g0232 others(152): Show a0001c0001t0001g0197 a0001c0001t0001g0293 a0001c0001t0002g0232 a0001c0001t0002g0277 a0001c0001t0003g0170 a0001c0001t0003g0257 a0001c0001t0004g0065 a0001c0001t0005g0064 a0001c0001t0005g0066 a0001c0001t0006g0198 a0001c0001t0007g0063 a0001c0001t0009g0291 a0001c0001t0010g0005 a0001c0001t0010g0006 a0001c0001t0010g0016 a0001c0001t0010g0017 a0001c0001t0010g0018 a0001c0001t0014g0122 a0001c0001t0014g0123 a0001c0001t0014g0124 a0001c0001t0014g0125 a0001c0001t0016g0199 a0001c0001t0040g0236 a0001c0001t0045g0228 a0001c0003t0001g0184 a0001c0003t0001g0202 a0001c0003t0001g0296 a0001c0003t0002g0217 a0001c0003t0002g0218 a0001c0003t0003g0189 a0001c0003t0003g0190 a0001c0003t0003g0200 a0001c0003t0003g0203 a0001c0003t0003g0204 a0001c0003t0003g0205 a0001c0003t0003g0206 a0001c0003t0003g0211 a0001c0003t0003g0212 a0001c0003t0003g0213 a0001c0003t0003g0226 a0001c0003t0008g0195 a0001c0003t0018g0191 a0001c0003t0030g0185 a0001c0004t0001g0011 a0001c0004t0001g0024 a0001c0004t0001g0178 a0001c0004t0001g0234 a0001c0004t0004g0002 a0001c0004t0004g0201 a0001c0004t0005g0009 a0001c0004t0005g0010 a0001c0004t0005g0237 a0001c0004t0006g0023 a0001c0004t0006g0134 a0001c0004t0006g0135 a0001c0004t0006g0275 a0001c0004t0012g0225 a0001c0004t0025g0148 a0001c0005t0007g0008 a0001c0006t0001g0027 a0001c0006t0001g0028 a0001c0006t0005g0026 a0001c0006t0006g0022 a0001c0006t0013g0021 a0001c0006t0013g0025 a0001c0007t0017g0182 a0001c0007t0017g0183 a0001c0008t0001g0001 a0001c0008t0004g0292 a0001c0008t0009g0012 a0001c0008t0009g0013 a0001c0015t0009g0015 a0001c0019t0010g0003 a0001c0022t0006g0133 a0001c0022t0006g0136 a0001c0031t0003g0233 a0001c0034t0001g0281 a0001c0042t0020g0294 a0001c0043t0022g0276 a0001c0045t0006g0284 a0002c0002t0001g0171 a0002c0002t0001g0173 a0002c0002t0001g0223 a0002c0002t0001g0231 a0002c0002t0001g0240 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0254 a0002c0002t0001g0256 a0002c0002t0001g0258 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0271 a0002c0002t0001g0278 a0002c0002t0001g0283 a0002c0002t0001g0285 a0002c0002t0001g0289 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0230 a0002c0002t0002g0243 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0282 a0002c0002t0003g0177 a0002c0002t0003g0242 a0002c0002t0003g0250 a0002c0002t0003g0253 a0002c0002t0003g0260 a0002c0002t0003g0264 a0002c0002t0003g0265 a0002c0002t0003g0295 a0002c0002t0004g0238 a0002c0002t0004g0255 a0002c0002t0004g0262 a0002c0002t0005g0224 a0002c0002t0006g0215 a0002c0002t0006g0216 a0002c0002t0006g0251 a0002c0002t0008g0172 a0002c0002t0008g0235 a0002c0002t0008g0248 a0002c0002t0008g0252 a0002c0002t0011g0279 a0002c0002t0012g0239 a0002c0002t0013g0270 a0002c0002t0021g0259 a0002c0002t0023g0227 a0002c0002t0023g0261 a0002c0002t0042g0241 a0002c0002t0046g0229 a0002c0010t0001g0129 a0002c0010t0001g0130 a0002c0010t0004g0181 a0002c0013t0003g0214 a0002c0013t0011g0169 a0002c0021t0002g0269 a0002c0021t0002g0272 a0002c0026t0011g0280 a0003c0009t0006g0126 a0003c0009t0007g0127 a0003c0036t0008g0290 a0004c0016t0004g0007 a0004c0016t0004g0014 a0005c0029t0001g0196 a0006c0040t0003g0249 a0007c0039t0003g0263	156	330	0.4727	607	c.-61 others(624): Show c.-61+7197_-61+7198insGGATCCCCGAGGTGAAGGCGGATCCTTG AGGTGAAGGCTGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTG ATCCCCGAGGTGAAGGCGGATCCTTGAGGTGAAGGCGGATCCCCGAGGTG AAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTGATCCC CGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGC GGATCCCCGAGTGATGGCTGATCCCCGAGGTGAAGGCAGATCCCCGAGGT GAAGGCTGATCCCTGAGGTGAAGGTGGATCTTGAGGTGAAGGCGGACCCA GAGGTGAAGGCAGATCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCAG ATCCCTGAGGTGAAGGCTGATCCCTGCCTGAGGTGAAGGTGGATCTCGAG GTGAAGGCTGATCCCTGAGGTGAAGGTGGATCCTTGAGGTGAAGGCGGAT CCTTGAGGTGAAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAA GGCGGATCCCCGAGGTGAAGGCAGATCTCCGAGGTGAAGGCGGATCCCCG AGGTGAAGGCGGATCCCCGAGGTGAAGGC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240812924	A A	AGCCTTCA others(600): Show AGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTC GGAGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCT TCACCTCGGGGATCTGCCTTCACCTCAAGGATCCGCCTTCACCTCAAGGA TCCACCTTCACCTCAGGGATCAGCCTTCACCTCGAGATCCACCTTCACCT CAGGCAGGGATCAGCCTTCACCTCAGGGATCTGCCTTCACCTCGGGGATC CGCCTTCACCTCGGGATCTGCCTTCACCTCTGGGTCCGCCTTCACCTCAA GATCCACCTTCACCTCAGGGATCAGCCTTCACCTCGGGGATCTGCCTTCA CCTCGGGGATCAGCCATCACTCGGGGATCTGCCTTCACCTCGGGGATCCG CCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGG GGATCCGCCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCCGCCTTC ACCTCAAGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGGGGATC CGCCTTCACCTCGGGGATCAGCCTTCACCTCAAGGATCCGCCTTCACCTC GGGGATCC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01978.hp2 HG01928.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0187 a0001c0001t0003g0186 a0001c0001t0002g0187 a0001c0001t0003g0186	2	330	0.0061	607	c.-61 others(624): Show c.-61+7197_-61+7198insGGATCCCCGAGGTGAAGGCGGATCCTTG AGGTGAAGGCTGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTG ATCCCCGAGGTGAAGGCGGATCCTTGAGGTGAAGGCGGATCCCCGAGGTG AAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTGATCCC CGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGC AGATCCCCGAGTGATGGCTGATCCCCGAGGTGAAGGCAGATCCCCGAGGT GAAGGCTGATCCCTGAGGTGAAGGTGGATCTTGAGGTGAAGGCGGACCCA GAGGTGAAGGCAGATCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCAG ATCCCTGAGGTGAAGGCTGATCCCTGCCTGAGGTGAAGGTGGATCTCGAG GTGAAGGCTGATCCCTGAGGTGAAGGTGGATCCTTGAGGTGAAGGCGGAT CCTTGAGGTGAAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAA GGCGGATCCCCGAGGTGAAGGCAGATCTCCGAGGTGAAGGCGGATCCCCG AGGTGAAGGCGGATCCCCGAGGTGAAGGC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240812924	A A	AGCCTTCA others(600): Show AGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTC GGAGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCT TCACCTCGGGGATCTGCCTTCACCTCAAGGATCCGCCTTCACCTCAAGGA TCCACCTTCACCTCAGGGATCAGCCTTCACCTCGAGATCCACCTTCACCT CAGGCAGGGATCAGCCTTCACCTCAGGGATCTGCCTTCACCTCGGGGATC CGCCTTCACCTCGGGATCTGCCTTCACCTCTGGGTCTGCCTTCACCTCAA GATCCACCTTCACCTCAGGGATCAGCCTTCACCTCGGGGATCTGCCTTCA CCTCGGGGATCAGCCATCACTCGGGGATCCGCCTTCACCTCGGGGATCCG CCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGG GGATCCGCCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCCGCCTTC ACCTCAAGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGGGGATC CGCCTTCACCTCGGGGATCAGCCTTCACCTCAAGGATCCGCCTTCACCTC GGGGATCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0012 a0001c0006t0012	a0001c0006t0012g0020 a0001c0006t0012g0020	1	330	0.0030	607	c.-61 others(624): Show c.-61+7197_-61+7198insGGATCCCCGAGGTGAAGGCGGATCCTTG AGGTGAAGGCTGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTG ATCCCCGAGGTGAAGGCGGATCCTTGAGGTGAAGGCGGATCCCCGAGGTG AAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTGATCCC CGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGC GGATCCCCGAGTGATGGCTGATCCCCGAGGTGAAGGCAGATCCCCGAGGT GAAGGCTGATCCCTGAGGTGAAGGTGGATCTTGAGGTGAAGGCAGACCCA GAGGTGAAGGCAGATCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCAG ATCCCTGAGGTGAAGGCTGATCCCTGCCTGAGGTGAAGGTGGATCTCGAG GTGAAGGCTGATCCCTGAGGTGAAGGTGGATCCTTGAGGTGAAGGCGGAT CCTTGAGGTGAAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAA GGCGGATCCCCGAGGTGAAGGCAGATCTCCGAGGTGAAGGCGGATCCCCG AGGTGAAGGCGGATCCCCGAGGTGAAGGC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240812924	A A	AGCCTTCA others(600): Show AGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTC GGAGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCT TCACCTCGGGGATCTGCCTTCACCTCAAGGATCCGCGTTCACCTCAAGGA TCCACCTTCACCTCAGGGATCAGCCTTCACCTCGAGATCCACCTTCACCT CAGGCAGGGATCAGCCTTCACCTCAGGGATCTGCCTTCACCTCGGGGATC CGCCTTCACCTCGGGATCTGCCTTCACCTCTGGGTCCGCCTTCACCTCAA GATCCACCTTCACCTCAGGGATCAGCCTTCACCTCGGGGATCTGCCTTCA CCTCGGGGATCAGCCATCACTCGGGGATCCGCCTTCACCTCGGGGATCCG CCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGG GGATCCGCCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCCGCCTTC ACCTCAAGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGGGGATC CGCCTTCACCTCGGGGATCAGCCTTCACCTCAAGGATCCGCCTTCACCTC GGGGATCC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0219 a0002c0002t0001g0219	1	330	0.0030	607	c.-61 others(624): Show c.-61+7197_-61+7198insGGATCCCCGAGGTGAAGGCGGATCCTTG AGGTGAAGGCTGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTG ATCCCCGAGGTGAAGGCGGATCCTTGAGGTGAAGGCGGATCCCCGAGGTG AAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTGATCCC CGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGC GGATCCCCGAGTGATGGCTGATCCCCGAGGTGAAGGCAGATCCCCGAGGT GAAGGCTGATCCCTGAGGTGAAGGTGGATCTTGAGGTGAAGGCGGACCCA GAGGTGAAGGCAGATCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCAG ATCCCTGAGGTGAAGGCTGATCCCTGCCTGAGGTGAAGGTGGATCTCGAG GTGAAGGCTGATCCCTGAGGTGAAGGTGGATCCTTGAGGTGAACGCGGAT CCTTGAGGTGAAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAA GGCGGATCCCCGAGGTGAAGGCAGATCTCCGAGGTGAAGGCGGATCCCCG AGGTGAAGGCGGATCCCCGAGGTGAAGGC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240812924	A A	AGCCTTCA others(600): Show AGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTT GGAGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCT TCACCTCGGGGATCTGCCTTCACCTCAAGGATCCGCCTTCACCTCAAGGA TCCACCTTCACCTCAGGGATCAGCCTTCACCTCGAGATCCACCTTCACCT CAGGCAGGGATCAGCCTTCACCTCAGGGATCTGCCTTCACCTCGGGGATC CGCCTTCACCTCGGGATCTGCCTTCACCTCTGGGTCCGCCTTCACCTCAA GATCCACCTTCACCTCAGGGATCAGCCTTCACCTCGGGGATCTGCCTTCA CCTCGGGGATCAGCCATCACTCGGGGATCCGCCTTCACCTCGGGGATCCG CCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGG GGATCCGCCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCCGCCTTC ACCTCAAGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGGGGATC TGCCTTCACCTCGGGGATCAGCCTTCACCTCAAGGATCCGCCTTCACCTC GGGGATCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02080.hp1 HG02698.hp2 others(14): Show HG00558.hp1 HG02080.hp1 HG02698.hp2 HG03831.hp1 HG04228.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18964.hp1 NA18966.hp2 NA18979.hp1 NA18986.hp2 NA18993.hp2 NA18994.hp1 NA19000.hp2 NA19056.hp2 NA19079.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0007 a0002c0002 others(3): Show a0001c0003 a0001c0007 a0002c0002 a0002c0013 a0002c0014 a0003c0037	a0001c0003t0001 a0001c0003t0003 a0001c0003t0018 others(9): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0018 a0001c0007t0001 a0001c0007t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0013t0008 a0002c0014t0004 a0002c0014t0024 a0003c0037t0002	a0001c0003t0001g0046 a0001c0003t0001g0057 a0001c0003t0003g0047 others(14): Show a0001c0003t0001g0046 a0001c0003t0001g0057 a0001c0003t0003g0047 a0001c0003t0003g0048 a0001c0003t0003g0053 a0001c0003t0018g0051 a0001c0007t0001g0058 a0001c0007t0003g0052 a0002c0002t0001g0049 a0002c0002t0002g0050 a0002c0002t0005g0056 a0002c0013t0008g0054 a0002c0013t0008g0055 a0002c0014t0004g0060 a0002c0014t0024g0043 a0002c0014t0024g0044 a0003c0037t0002g0045	17	330	0.0515	607	c.-61 others(624): Show c.-61+7197_-61+7198insGGATCCCCGAGGTGAAGGCGGATCCTTG AGGTGAAGGCTGATCCCCGAGGTGAAGGCAGATCCCCGAGGTGAAGGCTG ATCCCCGAGGTGAAGGCGGATCCTTGAGGTGAAGGCGGATCCCCGAGGTG AAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTGATCCC CGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGC GGATCCCCGAGTGATGGCTGATCCCCGAGGTGAAGGCAGATCCCCGAGGT GAAGGCTGATCCCTGAGGTGAAGGTGGATCTTGAGGTGAAGGCGGACCCA GAGGTGAAGGCAGATCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCAG ATCCCTGAGGTGAAGGCTGATCCCTGCCTGAGGTGAAGGTGGATCTCGAG GTGAAGGCTGATCCCTGAGGTGAAGGTGGATCCTTGAGGTGAAGGCGGAT CCTTGAGGTGAAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAA GGCGGATCCCCGAGGTGAAGGCAGATCTCCAAGGTGAAGGCGGATCCCCG AGGTGAAGGCGGATCCCCGAGGTGAAGGC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
KRT82_chr12_52388931_52411335	52409037	C C	CCTCCTCT others(600): Show CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCCT CTCCCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0023 a0003c0003t0004g0023	1	370	0.0027	607	c.-27 others(618): Show c.-2761_-2760insTGAGGGAGAGGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2703		chr12	TogoVar
LRRC24_chr8_144517388_144532033	144531174	T T	TGAAGGGC others(600): Show TGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACT GGACACAGCAGGCACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGG CTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTG GGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGG TGGGGAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCA GGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAG CAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGC AGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACAGCAGAAAG GCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAA GGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAG AAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAG GCACGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	398	0.0025	607	c.-42 others(618): Show c.-4275_-4274insTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCC CACTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAG CCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGC TATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCT GCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCC TTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGC CTTTCTGCCGTGCCTGCTGTGTCCAGTCCACACCCCACCTGCTGCTCCCT GCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTC	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4142		chr8	TogoVar
LY75_chr2_159798355_159909756	159874319	G G	GTTTTGTA others(600): Show GTTTTGTAAATATATATAAATATATATATGTTTTGTAAATATATATAAAT ATATGTTTTGTAAATATATATAAATATATATGTTTTGTAAATATACATAA ATATATATGTTTTGTAAATATATATAAATATATATATGTTTTGTAAATAT ATAAATATATATTTTGTAAATATATATATATTTTGTAAATATATATATAT TTTGTAAATATATATTGTAAATATATATAAATATATATTTTGTGAATTAT ATATATATTGTAAATTATATATATATTTTGTAAATATATATAGTAAATAT ATATATTTTGTAAATATGTATATATATTTTGTAAATATATATATTTTGTA AATATGTATATATATTTTGTAAATATATACATTTTGTAAATATATAAATA TATACATTTTGTAAATATATAAATATATACATTTTGTAAATATATAAAAA TATATACATTTTGTAAATATATAAAAATATATGTTGTAAATATATAAAAA TATATATATTTTGTAAATATATAAATATATATATTTTGTAAATATATACA TATTTTGTAAATATATATAAATATATACATATTTTGTAAATATATAAATA TATACATA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18975.hp1 NA18979.hp1 others(6): Show NA18973.hp1 NA18975.hp1 NA18979.hp1 NA18981.hp2 NA18987.hp1 NA19003.hp2 NA19081.hp2 NA19085.hp1 NA19090.hp2	a0002 a0014 a0002 a0014	a0002c0011 a0014c0041 a0002c0011 a0014c0041	a0002c0011t0002 a0014c0041t0003 a0002c0011t0002 a0014c0041t0003	a0002c0011t0002g0049 a0002c0011t0002g0050 a0002c0011t0002g0051 others(6): Show a0002c0011t0002g0049 a0002c0011t0002g0050 a0002c0011t0002g0051 a0002c0011t0002g0053 a0002c0011t0002g0054 a0002c0011t0002g0055 a0002c0011t0002g0056 a0002c0011t0002g0057 a0014c0041t0003g0052	9	330	0.0273	607	c.197 others(626): Show c.1974+1124_1974+1125insTATGTATATATTTATATATTTACAAA ATATGTATATATTTATATATATTTACAAAATATGTATATATTTACAAAAT ATATATATTTATATATTTACAAAATATATATATTTTTATATATTTACAAC ATATATTTTTATATATTTACAAAATGTATATATTTTTATATATTTACAAA ATGTATATATTTATATATTTACAAAATGTATATATTTATATATTTACAAA ATGTATATATTTACAAAATATATATACATATTTACAAAATATATATATTT ACAAAATATATATACATATTTACAAAATATATATATTTACTATATATATT TACAAAATATATATATAATTTACAATATATATATAATTCACAAAATATAT ATTTATATATATTTACAATATATATTTACAAAATATATATATATTTACAA AATATATATATATTTACAAAATATATATTTATATATTTACAAAACATATA TATATTTATATATATTTACAAAACATATATATTTATGTATATTTACAAAA CATATATATTTATATATATTTACAAAACATATATTTATATATATTTACAA AACATATATATATTTATATATATTTACAAAA	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(600): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTG CCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCA CATGGGCTCCTGGCGAGTGTGCCCCCCGCGCCTCCTCACATGGGCTCCTG GCGAGTGTGCCCCCTGTGCCTCACATAGGCTCCTGGCGAGTGTGCCCCCC CCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCC TCACATGGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCTCCTCACATGGGC TCCTGGCGAGTGTGCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAGTG TGCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCGC CTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACGCCTCCTCACATGG GCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGA GTGTGCCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCC CCACGCCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0006 a0006	a0006c0029 a0006c0029	a0006c0029t0001 a0006c0029t0001	a0006c0029t0001g0118 a0006c0029t0001g0118	1	292	0.0034	607	c.218 others(622): Show c.2189-97_2189-96insAGGCGTGGGGGGCACACTCGCCAGGAGCCC ATGTGAGGAGGCGCGGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGA GGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGTGGGGGG CACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGCACACTCGCCAG GAGCCCATGTGAGGAGGTGCGGGGGGCACACTCGCCAGGAGCCCATGTGA GGAGGTGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCCGGG GGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACT CGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGC CTATGTGAGGCACAGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCG CGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTC GCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATGT GAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGTGGGGG GCACACTCGCCAGGAGCCCATGTGAGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(600): Show GCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCCCTCCCCTCCCTCCTCCTCCCCTCCCCCCTCCCCTCCCCCCTCCGC CCTTCCCTCCCCCCCTCCCCTCCCCCCTCACCCCTTCCCCTCCCCTCCAC CCTCCCCCTCTCCTCCCCTCCCTTCCCCTCCCCTCCCCTCCCTTCCCCTC CCCTCCCCTTCCCTCCCGCCTCCCCTTCCCCCCTCCCCTCCCCTCCCCCT CCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTTCCC CTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCCCTTCGCCTCCCCTCCC CTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTTCCCTCCCTTCCCCTC CCCTCACCTCCCCTTCCCTCCCCCTCCCTTCTCCTCCCCTCCCCCCTCCT CCCCCTCCCTTCCCCTCTGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCT CCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTC TCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCACCCCTCCC CTCCCCAC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0231 a0001c0001t0003g0231	1	278	0.0036	607	c.115 others(624): Show c.1157+156_1157+157insCCTCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCCCTCCCCTCCCTCCTCCTCCCCTCCCCCCTCCCCTCCCCCCTC CGCCCTTCCCTCCCCCCCTCCCCTCCCCCCTCACCCCTTCCCCTCCCCTC CACCCTCCCCCTCTCCTCCCCTCCCTTCCCCTCCCCTCCCCTCCCTTCCC CTCCCCTCCCCTTCCCTCCCGCCTCCCCTTCCCCCCTCCCCTCCCCTCCC CCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTT CCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCCCTTCGCCTCCCCT CCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTTCCCTCCCTTCCC CTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCTCCTCCCCTCCCCCCT CCTCCCCCTCCCTTCCCCTCTGCTTGCCCCTTCCCTCCCCTCTCCTCTCC CCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCC CTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCACCCCT CCCCTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCGCTAC others(600): Show CCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCT CACCCGCTAACCCCCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCC GGCTCTCACCCGCTACCACCGGCCCCCGGCTCTCACCCCCTACCCCGGCC CCCGGCTCTCACCCCCTATCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCCGGCTCTCACCCCCTACCCCCGGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTA CCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCT ACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTC CTACCCCGGCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACC TCCTACCCCGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCAC CCGCTACCCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCT CACCCCCTACCCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGG CTCTCACT	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	394	0.0025	607	c.-8+ others(620): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGG GGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGGTA GCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCC GGGGGTAGGGGGTGAGAGCCGGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCCGGGATAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCG GGGGCCGGTGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAG CCGGGGGCCGGGGGGGTTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGGCCGGGGTAGCGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(600): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGC CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGGTC GGCCCTCCTGCCCTGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCAGGATGGAGGTGGGGGGGGGGTCAGTCCCCCCGCCCGGCCAGC CGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCC GTGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCACGTCC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	256	0.0039	607	c.241 others(626): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGA CTGACCCCCCCCCCACCTCCATCCTGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCAGGGCAGGAGGGCCGACCCCCCCCACACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCC TCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(600): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATAAATATATAAAAATTTATATT TATATATCATAAATATAAATATATAAAAATTTATATTTATATATCATAAA TATAAATATATAAAAATTTATATTTATATATAATAAATATATAAAAATTT ATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATATATC ATATATAAAAATTTATATATATCATATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0053 a0001c0002t0002g0053	1	350	0.0029	607	c.-28 others(618): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATAT ATAAAAATTTATATTTATATATCATAAATATAAATATATAAAAATTTATA TTTATATATCATAAATATAAATATATAAAAATTTATATTTATATATAATA AATATATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTAT ATATCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTATAT TTATATATCATATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAA AAATTTATATATATCATATATAAAAATTTATATATATCATATATAAAAAT TTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(600): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATATA GTTTTAAACTATATAGTTTATATATAGTTTAAAACTATATAGTTTATATA GTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGT TTAAAACTATATAGTTTATATAGTTTTAAACTATATAGTTTAAACTACAT AGTTTTAAACTATATAAACTATATAGTTTTAAACTAGTTTATATATAGTT TTAAACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTT ATGTAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTTA AACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTA TATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAG TTTTAAACTATATAGTTCATGTAGTTTTAAACTATATAGTTTAAAACTAT ATAGTTTATGTAGTTTTAAACTAGTTTATATTTTTTTATATAGTTTAAAC TATATAGT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19083.hp1 NA19011.hp1 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0063 a0001c0002t0001g0059 a0001c0002t0001g0063	2	244	0.0082	607	c.342 others(626): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAG TTTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAA AACTACATAAACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAA CTACATAAACTATATAGTTTAAACTAGTTTAAAACTATATATAAACTAGT TTAAAACTATATAGTTTATATAGTTTAAAACTATGTAGTTTAAACTATAT AGTTTAAAACTATATAAACTATATAGTTTTAAACTATATAAACTATATAG TTTTAAACTATATAAACTATATAGTTTTAAACTATATAAACTATATAGTT TTAAACTATATATAAACTATATAGTTTAAAACTATATATAAACTATATAG TTTAAAACTATATATAAACTATATAGTTTAAAACTATATATAAACTATAT AGTTTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(600): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATATA GTTTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATA GTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGT TTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTAAACTATAT AGTTTTAAACTATATAAACTATATAGTTTTAAACTAGTTTATATATAGTT TTAAACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTT ATGTAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTTA AACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTA TATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAG TTTTAAACTATATAGTTCATGTAGTTTTAAACTATATAGTTTAAAACTAT ATAGTTTATGTAGTTTTAAACTAGTTTATATTTTTTTATATAGTTTAAAC TATATAGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01175.hp2 HG00099.hp2 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0061 a0001c0002t0001g0057 a0001c0002t0001g0061	2	244	0.0082	607	c.342 others(626): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAG TTTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAA AACTACATAAACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAA CTACATAAACTATATAGTTTAAACTAGTTTAAAACTATATATAAACTAGT TTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTAAACTATAT AGTTTTAAACTATATAAACTATATAGTTTTAAACTATATAAACTATATAG TTTTAAACTATATAAACTATATAGTTTTAAACTATATAAACTATATAGTT TAAAACTATATATAAACTATATAGTTTAAAACTATATATAAACTATATAG TTTAAAACTATATATAAACTATATAGTTTAAAACTATATATAAACTATAT AGTTTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(600): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATATA GTTTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATA GTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGT TTAAAACTATATAGTTTATATAGTTTTAAACTATATAGTTTAAACTATAT AGTTTTAAACTATATAAACTATATAGTTTTAAACTAGTTTATATATAGTT TTAAACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTT ATGTAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTTA AACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTA TATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAG TTTTAAACTATATAGTTCATGTAGTTTTAAACTATATAGTTTAAAACTAT ATAGTTTATGTAGTTTTAAACTAGTTTATATTTTTTTATATAGTTTAAAC TATATAGT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0215 a0001c0017t0001g0215	1	244	0.0041	607	c.342 others(626): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAG TTTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAA AACTACATAAACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAA CTACATAAACTATATAGTTTAAACTAGTTTAAAACTATATATAAACTAGT TTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTAAACTATAT AGTTTAAAACTATATAAACTATATAGTTTTAAACTATATAAACTATATAG TTTTAAACTATATAAACTATATAGTTTTAAACTATATAAACTATATAGTT TAAAACTATATATAAACTATATAGTTTAAAACTATATATAAACTATATAG TTTAAAACTATATATAAACTATATAGTTTAAAACTATATATAAACTATAT AGTTTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
P2RX5_chr17_3668227_3701155	3685978	T T	TCCCCCGC others(600): Show TCCCCCGCCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCC CCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACAC ACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCCGCCCAG CCTCAGAACAGGAGAACGCACAGCGGGACCCCCAGGGACCCTCCCAACGT CCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGAC CCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACAC AGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCT CAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCC CCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAAC GCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCA GCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACG TCCCCCGC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0205 a0002c0002t0001g0205	1	362	0.0028	607	c.981 others(624): Show c.981+2033_981+2034insGCGGGGGACGTTGGGAGGGTCCCTGGGG GCCCCGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACG TTGGGAGGGTCCCTGGGGGCCCCGCTGTGCGTTCTCCTGTTCTGAGGCTG GGCGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCAGCTGTGTGT TCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGTCCCT GGGGGCCCAGCTGTGTGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGG GACGTTGGGAGGGTCCCTGGGGGCCCAGCTGTGTGTTCTCCTGTTCTGAG GCTGGGCGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCAGCTGT GTGTTCTCCTGTTCTCAGGCTGGGAGGGGGACGTTGGGAGGGTCCCTGGG GGTCCCGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGGCGGGGGA CGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGTGTTCTCCTGTTCTCAGGC TGGGAGGGGGACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGCGTTCTCC TGTTCTGAGGCTGGGCGGGGGGGCGGGGG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RY8_chrX_1457581_1542185	1468777	C C	CTCCCCTC others(600): Show CTCCCCTCTCTCCTCTCCCCTCTCCCCTCCCCTTCCCCTCTCCCTCTCCC CTCCCCTTCCCTCTCCCCTCTCCCCTCCCTTCCCTCTCCCCTCTCCCCTC CCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCC TCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTC CCTCTCCCCTCACCCTCCCCCTTCCCTCTCCTTCCCTCTCCCCTCTCCCC TCCCCTTCCCTCTCTCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCC CCTCTCCTTCCCTCTCCCCTCACCCCTCCCCTTCCTCTCCCCTCACCCCT CCCCTTCCCTCTCCCCTCTCCCCTCCCCCTTCCCTCTCCCCTCTCCCCTC CCCTTCCCTCTCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCTCCT CTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCTTCCCTCTCCC CTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCT CCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCC CCTCCCCT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0006 a0002c0002t0009g0006	1	114	0.0088	607	c.-24 others(624): Show c.-24-2196_-24-2195insAGGGGAGGGGAGAGGGGAGAGGGAAGGG GAGGGGAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGA GGGGAGAGGGGAGAGGGAAGGGGAGGGGAGGGGAGAGGGAAGGAGAGGGG AGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGAGAGAGGGAAGGGGAGG GGAGAGGGGAGAGGGAAGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGA AGGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGGGTGAGGGGAGAGGAAG GGGAGGGGTGAGGGGAGAGGGAAGGAGAGGGGAGAGGGGAGAGGGGAGAG GGGAGAGGGGAGAGGAGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAG GAGAGGGAAGGGGGAGGGTGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGA GAGGGAAGGGGAGGGGAGAGGGGAGAGGGAGGGGAGGGGAGAGGGGAGAG GGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGAGGGGAGAGGGGAGAGGGA AGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGAGAGGGGAAGG GGAGGGGAGAGGGGAGAGGAGAGAGGGGA	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PACS2_chr14_105309748_105403147	105349875	A A	AGCGTGGC others(600): Show AGCGTGGCTAATAGCAGGACCCCGAGAACTTCCGGGAGCGCGTGGCTAAT AGCAGGACCCCGAGAACTTCCAGGAGAGCGTGGCTAATAGCAGGACCCCG AGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCCCGAGAACTTCCGGG AGCGCGTGGCTAATAGCAGGACCCCGAGAACTTCCAGGAGAGCGTGGCTA ATAGCAGGACCCCGAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCC CGAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCCCGAGAACTTCCA GGAGAGCGTGGCTAATAGCAGGACCCCGAGAACTTCCGGGAGCGCGTGGC TAATAGCAGGACCCCGAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGAC CCCGAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCCCGAGAACTTC CAGGAGCGCGTGGCTAATGCAGGACCCCGAGAACTTCCAGGAGAGCGTGG CTAATAGCAGGACCCCGAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGA CCCCGAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCCCGAGAACTT CCGGGAGC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0169 a0002c0003t0002g0169	1	210	0.0048	607	c.207 others(624): Show c.207+1327_207+1328insGGGAGCGCGTGGCTAATAGCAGGACCCC GAGAACTTCCAGGAGAGCGTGGCTAATAGCAGGACCCCGAGAACTTCCGG GAGCGCGTGGCTAATAGCAGGACCCCGAGAACTTCCGGGAGCGCGTGGCT AATAGCAGGACCCCGAGAACTTCCAGGAGAGCGTGGCTAATAGCAGGACC CCGAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCCCGAGAACTTCC GGGAGCGCGTGGCTAATAGCAGGACCCCGAGAACTTCCAGGAGAGCGTGG CTAATAGCAGGACCCCGAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGA CCCCGAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCCCGAGAACTT CCGGGAGCGCGTGGCTAATAGCAGGACCCCGAGAACTTCCAGGAGCGCGT GGCTAATGCAGGACCCCGAGAACTTCCAGGAGAGCGTGGCTAATAGCAGG ACCCCGAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCCCGAGAACT TCCGGGAGCGCGTGGCTAATAGCAGGACCCCGAGAACTTCCGGGAGCGCG TGGCTAATAGCAGGACCCCGAGAACTTCC	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
PDCD6_chr5_266646_319974	318212	A A	ACCTCCCC others(600): Show ACCTCCCCCCACCCTCCATCTCCCCCAACCCTGCACCTCCCCCAATCCTT CACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCAC CCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCC CCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTC CCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCAC CTCCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCTCCCCAT CTTTTACCTCCCCCCACCCTCCATCTCCCCCAACCCTGCACCTCCCCCAT CCTTCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCC CCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTAC CTCCCCCCATCTTTTACCTCCCCCCACCCTCCATCTCCCCCCAACCCTGC ACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCC TCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCTC CCCATCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0334 a0001c0002t0001g0334	1	360	0.0028	607	c.36 others(618): Show c.3697_*3698insCCTCCCCCCACCCTCCATCTCCCCCAACCCTGCA CCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCT CCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCT CACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCC CCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCC CCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTTACCC TGCACCTCTCCCCATCTTTTACCTCCCCCCACCCTCCATCTCCCCCAACC CTGCACCTCCCCCATCCTTCACCTCCCCCACTCACCCTCCACCTCCCCCC CACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCT CCCCCCATCCTTTACCTCCCCCCATCTTTTACCTCCCCCCACCCTCCATC TCCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCA TCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCT TACCCTGCACCTCTCCCCATCTT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3239		chr5	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAGAAAG others(600): Show CAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAGAGAAAGAAAGAAAGAAAGAAGAAGAAAGAAAGA AAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGGAAAAGAAAAGAAAAAAAGAAAGAA AGAAAGAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0191 a0002c0002t0001g0191	1	342	0.0029	607	c.20- others(622): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTTTTTCTTTTCTT TTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTCTTCTTTCTT TCTTTCTTTCTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDXK_chr21_43714129_43767299	43741419	G G	GGGGGGCT others(600): Show GGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGG GCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTC GCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGG GGCTGGCGGGGGGCTCGCCGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCG CGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGG GCTCGCCGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTGG CGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGG GGGCTCGCCGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTG GCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGG GCGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGGC TCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCG GGGGGCTCGCGGGGGGGCTCGCGGGGGGCCTCGCGGGGGGGGCTCGCGGG GGGCTCGC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0323 a0001c0001t0006g0323	1	358	0.0028	607	c.143 others(622): Show c.143-243_143-242insCTCGCAGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGG CTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCG GGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCCGGGGGCTCGCGGGGGGC TGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTCGCCGGGGGCTCGCGGGGGGCTGGCGGGGGGGC TCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGC GGGGGGCTCGCGGGGGGCTCGCCGGGGGCTCGCGGGGGGCTGGCGGGGGG CTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGC GGGGGGCTCGCGGGGCGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGG GCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTC GCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCCTCGCGG GGGGGGCTCGCGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PGAP6_chr16_365788_386978	370388	C C	CCCGCTAC others(600): Show CCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCT CACCCGCTAACCCCCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCC GGCTCTCACCCGCTACCACCGGCCCCCGGCTCTCACCCCCTACCCCGGCC CCCGGCTCTCACCCCCTATCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCCGGCTCTCACCCCCTACCCCCGGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTA CCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCT ACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTC CTACCCCGGCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACC TCCTACCCCGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCAC CCGCTACCCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCT CACCCCCTACCCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGG CTCTCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	376	0.0027	607	c.15 others(618): Show c.1598_*1599insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTG AGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGGTAGC GGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAG CGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGT AGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGG GGGTAGGGGGTGAGAGCCGGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CCGGGATAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGG GGCCGGTGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGGGGTTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTG AGAGCCGGGGGCCGGGGTAGCGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		399		chr16	TogoVar
PKP3_chr11_389209_409908	398485	T T	TGCGTCAC others(600): Show TGCGTCACCTCCGTACCCCCGCACACACCTCTGTCACCTCCCTACCCCCG CACACACCTGCATCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCA TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTG CGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCA CACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTA CCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCA CCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACAC CTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCC GCACACAC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	216	0.0046	607	c.106 others(624): Show c.1069-507_1069-506insGCGTCACCTCCGTACCCCCGCACACACC TCTGTCACCTCCCTACCCCCGCACACACCTGCATCACCTCCGTACCCCCG CACACACCTGTGTCACCTCCATACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTG CGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCA CACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTA CCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCA CCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACAC CTCCGTCACCTCCGTACCCCCGCACACAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12			chr11	TogoVar
PKP3_chr11_389209_409908	398485	T T	TGCGTCAC others(600): Show TGCGTCACCTCCGTACCCCCGCACACACCTCTGTCACCTCCCTACCCCCG CACACACCTGCATCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCA TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTG CGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCA CACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTA CCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCA CCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACAC CTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCC GCACACAC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0059 a0001c0018t0001g0059	1	216	0.0046	607	c.106 others(624): Show c.1069-507_1069-506insGCGTCACCTCCGTACCCCCGCACACACC TCTGTCACCTCCCTACCCCCGCACACACCTGCATCACCTCCGTACCCCCG CACACACCTGTGTCACCTCCATACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTG CGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCA CACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTA CCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCA CCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACAC CTGCGTCACCTCCCTACCCCCGCACACAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12			chr11	TogoVar
PRKCZ_chr1_2045411_2190395	2106663	T T	TGTCACCA others(600): Show TGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACC TCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGG GCGAGGACCTCCATGCGTGTCACCAGGCCAGGTGACTCTCAGCAAGCCCC TCCACACGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCAGTGGG CGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCC TCTGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTAACTCTCAG CAAGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTG ACTCTTCAGCAAGCCCCTCTGGTGGGCGAGGACCTCCACGTGTGTCACCA GGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACG TGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGAC CTCCATGCGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGG GCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAAGCCC CTCCACAC	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0084 a0001c0003t0001g0084	1	286	0.0035	607	c.335 others(626): Show c.335-28597_335-28596insCACCAGGCCAGGTAACTCTCAGCAAG CCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTC TTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCC AGGTGACTCTCAGCAAGCCCCTCCACACGTGTCACCAGGCCAGGTAACTC TCAGCAAGCCCCTCCAGTGGGCGAGGACCTCCACACGTGTCACCAGGCCA GGTGACTCTTCAGCAGGCCCCTCTGGTGGGCGAGGACCTCCACACGTGTC ACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCA TGCGTGTCACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCTGGTGGGCGA GGACCTCCACGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCG GTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAG GCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTAACT CTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCC AGGTGACTCTTCAGCAAGCCCCTCCACACGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(600): Show GTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGT GGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGA TGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGG TGATGATGGTGATGGTGATGGTGATGGTGGTGATAATGGTGATGGTGATG GTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGAT GGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGG GGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGATGATGATGGTG GTGGTGGTGATAATGGTGATGGTGGTGATGGTGGTGGTAATGGTGATGGT GATGATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGT AGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGGTGG TGGTGGTGATAATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTG ATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGT GGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0001 a0002c0002t0011g0001	1	374	0.0027	607	c.-46 others(618): Show c.-4663_-4662insTGATGATGGTGATGGTGATGATGGTGGTGGTGGT GATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGG GGGTGGTGGTAATGGTGATGATGGTGATGGTGATGGTGATGGTGGTGATA ATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGAT GGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGA TGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATG GTGATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGATGGTGGT GGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGTGATAAT GGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGG TGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTG GTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGT AGTGGTGATGGGGGTGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
RAB11FIP3_chr16_420649_528011	504418	C C	CCTCACCT others(600): Show CCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCC TCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCT CACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTT GTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCCA CCTCCTCCTGTACCCCCTCACCTCCTGTACCCCCTCACCTCCTGTACCCC CTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCC TTGTGCACCCCCTCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCC TCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTC CTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCA CCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGT GCACCCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCA CCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTG TACCCCCT	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0252 a0001c0001t0003g0252	1	295	0.0034	607	c.139 others(626): Show c.1396-1105_1396-1104insTCACCTCCTCCTGTACCCCCTCACCT CCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCAC CCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCC TCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCT CACCTCCTCCTGTACCCCCCCACCTCCTCCTGTACCCCCTCACCTCCTGT ACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCT CCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCC CCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCC TCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCC CCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTC CTGTACCCCCTCACCTCCTTGTGCACCCCCCTCACCTCCTGTACCCCCTC ACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCC TGTACCCCCTCACCTCCTCCTGTACCCCCTC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RABL6_chr9_136802948_136846187	136803080	G G	GGGGGCCC others(600): Show GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0013 a0001c0005t0001g0013	1	330	0.0030	607	c.-51 others(618): Show c.-5117_-5116insGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4867		chr9	TogoVar
RABL6_chr9_136802948_136846187	136803080	G G	GGGGGCCC others(600): Show GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	330	0.0030	607	c.-51 others(618): Show c.-5117_-5116insGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4867		chr9	TogoVar
RABL6_chr9_136802948_136846187	136803080	G G	GGGGGCCC others(600): Show GGGGGCCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCCGGGGCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0238 a0001c0005t0001g0238	1	330	0.0030	607	c.-51 others(618): Show c.-5117_-5116insGGGGCCCCCCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGC CAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4867		chr9	TogoVar
RABL6_chr9_136802948_136846187	136803145	G G	GCCGGGGG others(600): Show GCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCTCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0230 a0001c0010t0001g0230	1	330	0.0030	607	c.-50 others(618): Show c.-5052_-5051insCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4802		chr9	TogoVar
RIN3_chr14_92508781_92693994	92547356	T T	TATTATAA others(600): Show TATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTT TATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAA ATTATCTTTATTTTATTATTATAAAATAAATTATCTTTTATTATAAAATA AATTATCTTTTATTATAAAATAAATTATCTTTTATTATAAAATAAATTAT CTTTTATTATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTTA TTATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTATTTTATA ATTATAAAATAAATTATCTTTATTTTATAATTATAAAATAAATTATCTTT ATTTTATAATTATAAAATTATCTTTATTTTATAATTATAAAATAATCTTT ATTTTATAATTATAAAATAATCTTTATTTTATAATTATAAAATAATCTTT ATTTTATAATTATAAAATAATCTTTATTTTATAATTATAAAATAATCTTT ATTTTATAATTATAAAATAATCTTTATTTTATAATTATAAAATAATCTTT ATTTTATTATTATAAAATAATCTTTATTTTATTATTATAATAAATTATCT TTATTACA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0047 a0004c0004t0001g0047	1	334	0.0030	607	c.45- others(622): Show c.45-8393_45-8392insTATAAAATAAATTATCTTTATTTTATTATT ATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATT TTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTA TCTTTTATTATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTT ATTATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTTATTATA AAATAAATTATCTTTTATTATAAAATAAATTATCTTTTATTATAAAATAA ATTATCTTTATTTTATAATTATAAAATAAATTATCTTTATTTTATAATTA TAAAATAAATTATCTTTATTTTATAATTATAAAATTATCTTTATTTTATA ATTATAAAATAATCTTTATTTTATAATTATAAAATAATCTTTATTTTATA ATTATAAAATAATCTTTATTTTATAATTATAAAATAATCTTTATTTTATA ATTATAAAATAATCTTTATTTTATAATTATAAAATAATCTTTATTTTATA ATTATAAAATAATCTTTATTTTATTATTATAAAATAATCTTTATTTTATT ATTATAATAAATTATCTTTATTACAAT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
SARDH_chr9_133658560_133743352	133668519	C C	CTCACCCT others(600): Show CTCACCCTCCCACTCCCTCACCCTCCCTCTCCCCTCACCCTCTCTCTCCC TCACCCTCCCTCTCCCCCTCGCCCTCCCACTCCCCTCGCCCTCCCTCTCC CCTCACCCTCACCCTCCCTCTCCCACCCCTCACCCTCCCTCACCCCTCAC CCTCCCACTCCCCTCCCCTCCCTCCCCCACCCCATCCACCCTCTCCCTCA CCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCACA ACCTCCCTCTCCCACACCCTCCCACTCCCCTTACCCTCCCCCTCCCTCAC CCTCCCTCTCCCTCACCCCCCCCCTCCCACCCCTCCCCCTCCCCTCACCT CCCTCTCCCCTCACCCTCACCTCACCCCTCACCTCACCCTCCCTCCCCAC ACCCACCCTCACCCTCACCTCCCTCCCTCACCCTCCCTCACCCTCACCCT CCCTCACTCTCCCAACCCTCCATCCCTCACCCTCCCTCTCCCCTCACCCT CCCACTCCCACACCTCCCTCTCCCTAACCCTCCCTCTCCCTCACCCTCCC TCTCCCTTACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTC ACCTCCCT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0003 a0001c0016t0003	a0001c0016t0003g0187 a0001c0016t0003g0187	1	262	0.0038	607	c.249 others(626): Show c.2496-1650_2496-1649insAGGGAGGTGAGGGAGGGTGAGGGAGA GGGAGGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAGGGTGAGGGAGAGG GAGGGTTAGGGAGAGGGAGGTGTGGGAGTGGGAGGGTGAGGGGAGAGGGA GGGTGAGGGATGGAGGGTTGGGAGAGTGAGGGAGGGTGAGGGTGAGGGAG GGTGAGGGAGGGAGGTGAGGGTGAGGGTGGGTGTGGGGAGGGAGGGTGAG GTGAGGGGTGAGGTGAGGGTGAGGGGAGAGGGAGGTGAGGGGAGGGGGAG GGGTGGGAGGGGGGGGGTGAGGGAGAGGGAGGGTGAGGGAGGGGGAGGGT AAGGGGAGTGGGAGGGTGTGGGAGAGGGAGGTTGTGGGGAGAGGGAGGGT GAGGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGAGAGGGTGGATG GGGTGGGGGAGGGAGGGGAGGGGAGTGGGAGGGTGAGGGGTGAGGGAGGG TGAGGGGTGGGAGAGGGAGGGTGAGGGTGAGGGGAGAGGGAGGGCGAGGG GAGTGGGAGGGCGAGGGGGAGAGGGAGGGTGAGGGAGAGAGAGGGTGAGG GGAGAGGGAGGGTGAGGGAGTGGGAGGGTGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SDHA_chr5_213320_262082	261105	C C	CAGCATTA others(600): Show CAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGC TCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCAACAGAGC ATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCG CCTCCCCACAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTA CCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTC CCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGT GTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCGTC AGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAG CTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAG CATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCC GCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATT ACCGTGTGAGCTCCGCCTCCCGACAGAGCATTACCGTGTGAGCTCCGCCT CCCGCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	266	0.0038	607	c.46 others(618): Show c.4685_*4686insAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAG CATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCC GCCTCCCAACAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATT ACCGTGTGAGCTCCGCCTCCCCACAGAGCATTACCGTGTGAGCTCCGCCT CCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCG TGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCG GCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTG AGCTCCGCCTCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGA GCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTC CGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCAT TACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCC TCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGACAGAGCATTACC GTGTGAGCTCCGCCTCCCGCCAG	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4024		chr5	TogoVar
SLC45A1_chr1_8313114_8349165	8331445	A A	AAACACTT others(600): Show AAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTA AAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTT TAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATT TTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATA TTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAA TATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAA AATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAA AAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTT AAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTT TTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACAC TTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAAC ACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAA ACACTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03453.hp2 HG01891.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0025 a0001c0001 a0001c0025	a0001c0001t0003 a0001c0025t0001 a0001c0001t0003 a0001c0025t0001	a0001c0001t0003g0200 a0001c0025t0001g0184 a0001c0001t0003g0200 a0001c0025t0001g0184	2	388	0.0052	607	c.144 others(624): Show c.1443+511_1443+512insCACTTTTAAAAAATATTTTTAAAAAACA CTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAA CACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAA AACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAA AAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTT AAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTT TTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATAT TTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAAT ATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAA ATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAA AAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTA AAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTT TAAAAAATATTTTTAAAAAACACTTTTAA	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNX9_chr6_157818246_157950077	157827089	C C	CATATATT others(600): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATAT AAACATATATTATAGTTTATATAATATATAAACATATAGTTTATATAATA TATAAACATATAGTTTATATAATATATAAACATATAGTTTATATAATATA TAAACATATAGTTTATATAATATATAAACATATAGTTTATATAATATATA AACATATAGTTTATATAATATATAAACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAA TATATAAA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	302	0.0033	607	c.12+ others(622): Show c.12+3669_12+3670insAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATA TATTATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAAC ATATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACAT ATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACATAT AGTTTATATAATATATAAACATATATTATAGTTTATATAATATATACACA TATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATA TATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTT ATATAATATATACACATATATTATAGTTTATATAATATATACACATATAT TATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATAA AATATATTATAGTTTATATAATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(600): Show TGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGG GGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGG GAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGG GGCCCAGCAGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0013 a0001c0001t0005g0013	1	422	0.0024	607	c.64 others(618): Show c.6483_*6484insCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCC AGGCAACTCCACCCCTGCTGGGCCCCCCCCCCACAGGCAACTCCACCCCC GCTGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAG GCAACTCCACCCCCGCTGGGCCCCCCCCCCCAGGCAACTCCACCCCCGCT GGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCATC CCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCA CAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCT GGGCACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCT GGGCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
STKLD1_chr9_133371366_133411096	133383293	T T	TGATGATG others(600): Show TGATGATGATGGTGGTGATGGTGATGATGATGGTAATGATGGTGATGATG GCGGTGATGGTGATGGTGATGATGGTGGTAATGATGGTAATGATGGTGAT GATAGTGGTGATGGTGACAGTGGTGATGGGTGTGATGGTGGTAATGGTAG TGGTGGTGTGATGATGGTAATGATGGTGATGTGATGGTGACGGTGGTGGT GATAGTGTGATGGTGGTAATGGTGATGGTGTGATGATGGTAATGATGGTG ATAATAGTGGTGATGGTGATGGTGGTGGTGATGGAGTGATGGTGGTAATG GTAGTGATGGTGGTGTGATGATGGTGATGGTGGTGATGGTGATGGCAGTG ATGATGGTGGTAATGTTGATGGTAATGATGGTGATGATAGTGGTGATGGT GACGGTGGAGGTCATGGAGTGATGGTGGTAACAGTGGTGGTGTGATGATG GTGATGATGGTGGTGATGGTGGTGGTGATGATGGTAATGATGGTGACGAC AGTGGTGATGGTGATGATGGTAATGATGGTGATGATGGCAGTGATGATGA AGGTGGTAATGATGGTGTTAATGATGGTGATGATAGTGGTGATGGTGGTG GTGATGGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA19043.hp1 HG02886.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0031 a0002c0002 a0002c0031	a0002c0002t0007 a0002c0031t0007 a0002c0002t0007 a0002c0031t0007	a0002c0002t0007g0261 a0002c0031t0007g0260 a0002c0002t0007g0261 a0002c0031t0007g0260	2	356	0.0056	607	c.175 others(622): Show c.175-562_175-561insATGATGATGGTGGTGATGGTGATGATGATG GTAATGATGGTGATGATGGCGGTGATGGTGATGGTGATGATGGTGGTAAT GATGGTAATGATGGTGATGATAGTGGTGATGGTGACAGTGGTGATGGGTG TGATGGTGGTAATGGTAGTGGTGGTGTGATGATGGTAATGATGGTGATGT GATGGTGACGGTGGTGGTGATAGTGTGATGGTGGTAATGGTGATGGTGTG ATGATGGTAATGATGGTGATAATAGTGGTGATGGTGATGGTGGTGGTGAT GGAGTGATGGTGGTAATGGTAGTGATGGTGGTGTGATGATGGTGATGGTG GTGATGGTGATGGCAGTGATGATGGTGGTAATGTTGATGGTAATGATGGT GATGATAGTGGTGATGGTGACGGTGGAGGTCATGGAGTGATGGTGGTAAC AGTGGTGGTGTGATGATGGTGATGATGGTGGTGATGGTGGTGGTGATGAT GGTAATGATGGTGACGACAGTGGTGATGGTGATGATGGTAATGATGGTGA TGATGGCAGTGATGATGAAGGTGGTAATGATGGTGTTAATGATGGTGATG ATAGTGGTGATGGTGGTGGTGATGGAG	STKLD1	ENSG00000198870.8	transcript	ENST00000371957.4	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(600): Show GATTATAAAATATAATTATATATAATATATGATTATAAAATATAATTATA TATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAA TATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATA ATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTA TATATTATATATGATTATAAAATATAATTATATATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	268	0.0037	607	c.75 others(618): Show c.7501_*7502insATTATAAAATATAATTATATATAATATATGATTA TAAAATATAATTATATATTATATATGATTATAAAATATAATTATATATTA TATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATA TGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGAT TATAAAATATAATTATATATTATATATGATTATAAAATATAATTATATAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT ATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(600): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTCTCTCTTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTG TCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTC TGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTC TCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTC TCTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTC TCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTC TCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTGTCTCTTTCTCTC TCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTCTCTGTCTCTTTC TCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTGTCTCTC TCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTC TCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTC TCTGTCTC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0013 a0001c0020t0001g0013	1	256	0.0039	607	c.924 others(624): Show c.924-2424_924-2423insGAGACAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGA GAGACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGA GAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGA GACAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGA GAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGA GAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGACAGAGA GAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGA GAGACAGAGAGAGAGAGACAGAAGAGAGAGAGAGAGAGACAGAGAGAGAG ACAGAGAGAGAGAGAGAGAGAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TMPRSS6_chr22_37060436_37114713	37097815	G G	GAGGGCCA others(600): Show GAGGGCCACCGTCCTGTAACGGAGGGGGAGGAGAGGGCCACCGTCCTGTA ACGGAGGGGGAGGAGAGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGG GCCACCGTCCTGTAACGGAGGGGGAGGAGCGGGCCACCGTCCTGTAACGG AGGGGGAGGAGCGGGCCACCGTCCTGTAACGGAGGGGGAGGAGCGGGCCA CCGTCCTGTAACGGAGGGGGAGGGGCGGGCCACCGTCCTGTAACGGAGGG GGAGGGGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGCCACCGTC CTGTAACGGAGGGGGAGGAGCGGGCCACCGTCCTGTAACGGAGGGGGAGG AGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGT AACGGAGGGGGAGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCG GCCACCGTCCTGTAACGGAGGGGGAGGGGCGGGCCACCGTCCTGTAACGG AGGGGGAGGGGCGGGCCACCGTCCTGTAACGGAGGGGCAGGGGCGGGCCA CCGTCCTGTAACGGAGGGGGAGGGGCGGGCCACCGTCCTGTAACGGAGGG GCAGGGGC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0007 a0007	a0007c0028 a0007c0028	a0007c0028t0001 a0007c0028t0001	a0007c0028t0001g0024 a0007c0028t0001g0024	1	348	0.0029	607	c.336 others(622): Show c.336+600_336+601insGCCCCTGCCCCTCCGTTACAGGACGGTGGC CCGCCCCTCCCCCTCCGTTACAGGACGGTGGCCCGCCCCTGCCCCTCCGT TACAGGACGGTGGCCCGCCCCTCCCCCTCCGTTACAGGACGGTGGCCCGC CCCTCCCCCTCCGTTACAGGACGGTGGCCGCTCCTGCCCCTCCGTTACAG GACGGTGGCCCGCTCCTCCCCCTCCGTTACAGGACGGTGGCCCGCTCCTG CCCCTCCGTTACAGGACGGTGGCCCGCTCCTCCCCCTCCGTTACAGGACG GTGGCCCGCTCCTCCCCCTCCGTTACAGGACGGTGGCCGCTCCTGCCCCT CCGTTACAGGACGGTGGCCCGCCCCTCCCCCTCCGTTACAGGACGGTGGC CCGCCCCTCCCCCTCCGTTACAGGACGGTGGCCCGCTCCTCCCCCTCCGT TACAGGACGGTGGCCCGCTCCTCCCCCTCCGTTACAGGACGGTGGCCCGC TCCTCCCCCTCCGTTACAGGACGGTGGCCCGCTCCTGCCCCTCCGTTACA GGACGGTGGCCCTCTCCTCCCCCTCCGTTACAGGACGGTGGCCCTCTCCT CCCCCTCCGTTACAGGACGGTGGCCCT	TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	3/17			chr22	TogoVar
TMPRSS9_chr19_2355265_2431261	2377592	C C	CTCTCCCC others(600): Show CTCTCCCCTCCCCTCTCCCCCCCCTCCCCTCTCCTCTCTCCCCTCCCCTC TCCCCTCCCCTCTCCCCCTCCCCCTCTCCCCTCTCCCCCTCCCCTCTCCC CTCTCCCCTCCCCCTCCCCTCACCCCTCCCCTCTCCCCTCTCCCCTCTCC CCTCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCC CTCTCCCCTACCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCC CTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTGTCCTCCCCTCCTCTCTCT TCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCCTCTCCTCCCCTCTCCCC TCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCCCCTCGC CCTTCCCCTCTTCCCTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCATCT CCCCTCTCATCTCCCCTCTCCCCTCCCCTCTCCCCTTCCCTCCCGTCCCC TCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCC CTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCCCCCTCCCCC CTCCCCCT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0003 a0004c0003t0003g0003	1	114	0.0088	607	c.-25 others(626): Show c.-25-12167_-25-12166insTCCCCTCCCCTCTCCCCCCCCTCCCC TCTCCTCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCCTCCCCCTCTCC CCTCTCCCCCTCCCCTCTCCCCTCTCCCCTCCCCCTCCCCTCACCCCTCC CCTCTCCCCTCTCCCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCTCCCCTCTCCCCTACCCTCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCT CTGTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTC CCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCC TCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCCTCCTCTCCC CTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCCCT CTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCC TTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCT CCCCTCCCCTCCCCCTCCCCCCTCCCCCTTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TWIST2_chr2_238843085_238915534	238870297	C C	CAAACCAC others(600): Show CAAACCACACACCCCACACACACCACACACACCACACCCCACACACACCA CACCCCACACACACCACACACCCCACACACACCACACACCCCCCACACAC CACACACCCATACACACCACACCCCACACACACCACACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACACCCCACACACACCACACCCCATACACACC ACACCCCACACACACCACACACCCCACACACACCACACCCCATACACACC ACACACACCACACACCCCACACACACCACACCCCACACACCCCACACACA CCACACCCCATACACACCACACCCCACACACACCACACACCACACCCCAT ACACACCACACCCCACACACCCCCCACACACCACACCCCATACACACCAC ACCCCACACACCCCCCACACACCACACCCCATACACACCACACCCCACAC ACACCACACCCCACACACACCACACACCCCACACACACCACACCCCATAC ACACCACACCCCACACACACCACACCCCACACACACCACACCCCACACAC ACCACACA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	338	0.0030	607	c.35 others(626): Show c.35+21564_*35+21565insAAACCACACACCCCACACACACCACA CACACCACACCCCACACACACCACACCCCACACACACCACACACCCCACA CACACCACACACCCCCCACACACCACACACCCATACACACCACACCCCAC ACACACCACACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCAC ACACACCACACCCCATACACACCACACCCCACACACACCACACACCCCAC ACACACCACACCCCATACACACCACACACACCACACACCCCACACACACC ACACCCCACACACCCCACACACACCACACCCCATACACACCACACCCCAC ACACACCACACACCACACCCCATACACACCACACCCCACACACCCCCCAC ACACCACACCCCATACACACCACACCCCACACACCCCCCACACACCACAC CCCATACACACCACACCCCACACACACCACACCCCACACACACCACACAC CCCACACACACCACACCCCATACACACCACACCCCACACACACCACACCC CACACACACCACACCCCACACACACCACACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
WDR25_chr14_100371485_100535303	100526932	A A	ACCACCAT others(600): Show ACCACCATCACCACTACCACCACCATTATCACCAGCACCAGCACCATCAG CATCACTACCACCACCAGTGTCATCACCGCCACCACCACCAGTACCACCA TCAGCATCACTATCTCTATACCCACCACCTCCACTGTCATCATTGTCACT ACCACCACTACTGTCATCATCACCATTATCACCAGCACCAGCACCATCAG CATCACTATCTCTATACCCACCACCACCACCATCATCACCGGCACCACCG CCATTATCACCAGCACCACTGCCATCAGCATCACTATCTCTATACCCACC ACCACCACAGTCATCATTGTCACTACTACCACTCCTGTCATCACCAGCAC CACCGCCATTATCACCAGCACCACTGCCATCAGCATCACCATCACCATCT TTGTACTCATCACCATCATCGTCACCACCGCGCCACCACCATCACTGCCA CCACTATTATCACTAGCACTACCACCATCAGCATCAGCATCACCATCTGT ATACTCACCACCATTACCATCATCGTCATCACTGCCACCACCATCACCAC TGTCCTCTTTATCTCCAGCACCACCATCATCGTCACTGTCACCATACCAC TCTCATCT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA19003.hp2 NA18974.hp1 NA19003.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0108 a0002c0002t0001g0203 a0001c0001t0001g0108 a0002c0002t0001g0203	2	228	0.0088	607	c.127 others(624): Show c.1272+892_1272+893insCCACCATCACCACTACCACCACCATTAT CACCAGCACCAGCACCATCAGCATCACTACCACCACCAGTGTCATCACCG CCACCACCACCAGTACCACCATCAGCATCACTATCTCTATACCCACCACC TCCACTGTCATCATTGTCACTACCACCACTACTGTCATCATCACCATTAT CACCAGCACCAGCACCATCAGCATCACTATCTCTATACCCACCACCACCA CCATCATCACCGGCACCACCGCCATTATCACCAGCACCACTGCCATCAGC ATCACTATCTCTATACCCACCACCACCACAGTCATCATTGTCACTACTAC CACTCCTGTCATCACCAGCACCACCGCCATTATCACCAGCACCACTGCCA TCAGCATCACCATCACCATCTTTGTACTCATCACCATCATCGTCACCACC GCGCCACCACCATCACTGCCACCACTATTATCACTAGCACTACCACCATC AGCATCAGCATCACCATCTGTATACTCACCACCATTACCATCATCGTCAT CACTGCCACCACCATCACCACTGTCCTCTTTATCTCCAGCACCACCATCA TCGTCACTGTCACCATACCACTCTCATCT	WDR25	ENSG00000176473.14	transcript	ENST00000402312.8	protein_coding	5/6			chr14	TogoVar

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