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
PCBP3_chr21_45638725_45947450	45909853	G G	GCCCACCC others(418): Show GCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACG GACCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCC AGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCA CTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCC CACCCACTGCCCAGATACGGACCCCCCCCCCACCCACTGCCCAGATACGG ACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAG ATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACT GCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCC ACCCACTGCCCAGATACGGACCCCCT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	292	0.0034	425	c.471 others(440): Show c.471+369_471+370insCACCCACTGCCCAGATACGGACCCCCCCCA CCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACC CGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATA CGGACCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCC CAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCAC CCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCC CCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACG GACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCA GATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCTCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCSK5_chr9_75885673_76367975	76063865	G G	GTGGCCGG others(418): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGA CACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCC TCTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGACGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACC CCCACCTCCCTCCCGGACGGGGCAGC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0026 a0026	a0026c0095 a0026c0095	a0026c0095t0004 a0026c0095t0004	a0026c0095t0004g0051 a0026c0095t0004g0051	1	166	0.0060	425	c.633 others(442): Show c.633-4052_633-4051insGGCCAGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGACACCCCCACCTCCCTCC CGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGGGGCTGGCCGGGC AGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGACGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGA CGGGGCAGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK6_chr15_101298933_101494707	101312088	C C	CCCCTCAC others(418): Show CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCTCACCCCATCGTCA CCCCTCACAGCTCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCATCA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0275 a0001c0010t0001g0275	1	336	0.0030	425	c.269 others(444): Show c.2699+1287_2699+1288insTGATGATGGGGTGGGCTGTGAGGGGT GACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGT GACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGT GACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGT GACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGT GACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGT GACGATGGGGTGGGCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAGGGG TGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGAGCTGTGAGGGG TGACGATGGGGTGAGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PIEZO1_chr16_88710338_88790220	88728741	C C	CATGCTGG others(418): Show CATGCTGGGGAACCCAGGACATGCTGAACTCACAGCCCCATCTGCCACAG AGGGAACCTCGCGACACAAAAACAAAGTGACCCTCCATGCTGGGGAACCC AGGACATGCTGAACTCACAGCCCCATCTGCCACAGAGGGAACCTCGCGAC CCAAAAACAAAGTGACCCTCGATGTTGGGGAACCCAGGACATGCTGATCT CACAGCCCCATCTGCCACAGAGGGAACCTCGTGACCCAAAAACAAAGTGA CCCTCGATGCTGGGGAACCCAGGACATGCTGAACCCACAGCCCCATCTGC CACAGAGGGAACCTCGCGACCCAAAAACAAAGTGACCCTCGATGCTGGGG AACCCAGGACATGCTGAACTCACAGCCCCATCTGCCACAGAGGGAACCTC GCGACACAAAAACAAAGTGACCCTCG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0083 a0083	a0083c0105 a0083c0105	a0083c0105t0001 a0083c0105t0001	a0083c0105t0001g0242 a0083c0105t0001g0242	1	282	0.0036	425	c.319 others(444): Show c.3197-1081_3197-1080insCGAGGGTCACTTTGTTTTTGTGTCGC GAGGTTCCCTCTGTGGCAGATGGGGCTGTGAGTTCAGCATGTCCTGGGTT CCCCAGCATCGAGGGTCACTTTGTTTTTGGGTCGCGAGGTTCCCTCTGTG GCAGATGGGGCTGTGGGTTCAGCATGTCCTGGGTTCCCCAGCATCGAGGG TCACTTTGTTTTTGGGTCACGAGGTTCCCTCTGTGGCAGATGGGGCTGTG AGATCAGCATGTCCTGGGTTCCCCAACATCGAGGGTCACTTTGTTTTTGG GTCGCGAGGTTCCCTCTGTGGCAGATGGGGCTGTGAGTTCAGCATGTCCT GGGTTCCCCAGCATGGAGGGTCACTTTGTTTTTGTGTCGCGAGGTTCCCT CTGTGGCAGATGGGGCTGTGAGTTCAGCATGTCCTGGGTTCCCCAGCAT	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	22/50			chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88729312	C C	CGACCCAA others(418): Show CGACCCAAAAACAAAGTGACCCTCGATGTTGGGGAACCCAGGACATGCTG ATCTCACAGCCCCATCTGCCACAGAGGGAACCTCGCGACACAAAAACAAA GTGACCCTCGATGCTGGGGAACCCAGGACATGCTGAACCCACAGCCCCAT CTGCCACAGAGGGAACCTCGCGACCCAAAAACAAAGTGACCCTCGATGCT GGGGAACCCAGGACATTCTGAACCCACAGCCCCATCTGCCACAGAGGGAA CCTCGCGACCCAAAAACAAAGTGACCCTCGATGCTGGGGAACCCAGGACA GGCTGAACCCACAGCCCCATCTGCCACAGAGGGAACCTTGCGACCCAAAA ACAAAGTGACCCTCGATGCTGGGGAACCCAGGACATGCTGAACCCACAGC CCCATCTGCCACAGAGGGAACCTCGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp1 HG01256.hp2 others(17): Show HG00639.hp2 HG01081.hp1 HG01256.hp2 HG01346.hp2 HG01433.hp2 HG02717.hp1 HG02717.hp2 HG03492.hp2 HG04115.hp1 NA18612.hp1 NA18747.hp1 NA18944.hp2 NA18946.hp2 NA18950.hp1 NA18970.hp2 NA18980.hp2 NA18983.hp2 NA18995.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0006 others(7): Show a0001 a0002 a0006 a0018 a0019 a0022 a0049 a0080 a0089 a0092	a0001c0005 a0001c0022 a0001c0109 others(12): Show a0001c0005 a0001c0022 a0001c0109 a0002c0003 a0002c0017 a0002c0134 a0006c0057 a0018c0091 a0018c0095 a0019c0032 a0022c0052 a0049c0115 a0080c0159 a0089c0101 a0092c0133	a0001c0005t0001 a0001c0005t0022 a0001c0022t0001 others(13): Show a0001c0005t0001 a0001c0005t0022 a0001c0022t0001 a0001c0109t0001 a0002c0003t0001 a0002c0017t0001 a0002c0134t0001 a0006c0057t0001 a0018c0091t0001 a0018c0095t0001 a0019c0032t0001 a0022c0052t0001 a0049c0115t0001 a0080c0159t0001 a0089c0101t0001 a0092c0133t0001	a0001c0005t0001g0034 a0001c0005t0022g0276 a0001c0022t0001g0098 others(17): Show a0001c0005t0001g0034 a0001c0005t0022g0276 a0001c0022t0001g0098 a0001c0109t0001g0206 a0002c0003t0001g0045 a0002c0003t0001g0057 a0002c0003t0001g0065 a0002c0003t0001g0075 a0002c0003t0001g0085 a0002c0017t0001g0243 a0002c0134t0001g0241 a0006c0057t0001g0101 a0018c0091t0001g0168 a0018c0095t0001g0186 a0019c0032t0001g0235 a0022c0052t0001g0099 a0049c0115t0001g0119 a0080c0159t0001g0150 a0089c0101t0001g0264 a0092c0133t0001g0190	20	282	0.0709	425	c.319 others(444): Show c.3197-1652_3197-1651insACGAGGTTCCCTCTGTGGCAGATGGG GCTGTGGGTTCAGCATGTCCTGGGTTCCCCAGCATCGAGGGTCACTTTGT TTTTGGGTCGCAAGGTTCCCTCTGTGGCAGATGGGGCTGTGGGTTCAGCC TGTCCTGGGTTCCCCAGCATCGAGGGTCACTTTGTTTTTGGGTCGCGAGG TTCCCTCTGTGGCAGATGGGGCTGTGGGTTCAGAATGTCCTGGGTTCCCC AGCATCGAGGGTCACTTTGTTTTTGGGTCGCGAGGTTCCCTCTGTGGCAG ATGGGGCTGTGGGTTCAGCATGTCCTGGGTTCCCCAGCATCGAGGGTCAC TTTGTTTTTGTGTCGCGAGGTTCCCTCTGTGGCAGATGGGGCTGTGAGAT CAGCATGTCCTGGGTTCCCCAACATCGAGGGTCACTTTGTTTTTGGGTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	22/50			chr16	TogoVar
PIK3C2B_chr1_204417633_204499805	204471093	T T	TTGGTATT others(418): Show TTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0178 a0001c0003t0004g0178	1	302	0.0033	425	c.-84 others(442): Show c.-84-1632_-84-1208dupGTGAAGCCATCATGTGAGAATACCAGTG AAGCCATCATGTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAGTG AAGCCATCATGTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAGTG AAGCCATCATGTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAGTG AAGCCATCATGTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAGTG AAGCCATCATGTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAGTG AAGCCATCATGTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAGTG AAGCCATCATGTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAGTG AAGCCATCATGTGAGAATACCAGTGAAGCCATCATGTGAGAATACCA	PIK3C2B	ENSG00000133056.14	transcript	ENST00000684373.1	protein_coding	1/32			chr1	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(418): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGG AAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGA GGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGG GGAAGGGGGGGAAGAGGGGAAGGGGAAAGGAGGGGAGGGGAGAGGAGGGA AGGGGGAAGAGGGGATGGGAGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	312	0.0032	425	c.53 others(436): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAG GGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGG GAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAG GGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGG AGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAG GGGAGGGGGAAGAGGGGAAGGGGGGGAAGAGGGGAAGGGGAAAGGAGGGG AGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGG others(418): Show GGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGG AGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGA GGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGG GGAAGGGGGGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGA AGGGGGAAGAGGGGATGGGAGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	312	0.0032	425	c.53 others(436): Show c.5377_*5378insGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAT AGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAG GGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAG GGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGG AGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAG GGGAGGGGGAAGAGGGGAAGGGGGGGAAGAGGGGAAGGGGAGAGGAGGGG AGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGA others(418): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGG AAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGA GGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGG GGAAGGGGGGGAAGAGGGGAAGGGGAAAGGAGGGGAGGGGAGAGGAGGGA AGGGGGAAGAGGGGATGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0087 a0001c0039t0087	a0001c0039t0087g0127 a0001c0039t0087g0127	1	218	0.0046	425	c.262 others(440): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCTCCTTTCCCCTTCCCCTCTTCCCCCCCTTCCCCTC TTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTT CCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCC CCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCC CTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCCTCTTCCCTCTTCCCT CCTCTCCCCTCCCCTATTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCC CATCTCCTCCCCTCCCCTCTTCCCCCTCCCCTCCCCTCCCCTCTTCCCCC TCCCCTCCCCTCCCCTCTTCCCCCTCCCCTCTTCCCCCTCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGG others(418): Show GGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGG AGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGA GGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGG GGAAGGGGGGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGA AGGGGGAAGAGGGGATGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	218	0.0046	425	c.262 others(440): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCTCCTCTCCCCTTCCCCTCTTCCCCCCCTTCCCCTC TTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTT CCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCC CCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCC CTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCT CCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCC CCTCCCTTCCCCTCTTCCCCCTCCCCTCCCCTCTTCCCTCTTCCCTCCTC TCCCCTCCCCTATTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PJA2_chr5_109329722_109414974	109354509	T T	TATAGATT others(418): Show TATAGATTAGATATCTGTGATATCTAGAGATATCTATAGATTGGATATCT ATATCTAGAGATATCTATAGATTGGATATCTATGATATCTAGAGATATCT ATAGATTAGATGTCTATGATATCTAGAGATATCTATAGATTAGATAGATA TCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATATCTATA GATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATATCTATGA TATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATATCTA TAGATTGGATATCTATATCTAGAGATATCTATAGATTAGATATCTATGAT ATCTAGAGATATCTATAGATTCGATATCTATGATATCTAGAGATATCTAT AGATTAGATATCTATGATATCTAGAG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0053 a0003c0003t0002g0053	1	346	0.0029	425	c.176 others(444): Show c.1764+1405_1764+1406insCTCTAGATATCATAGATATCTAATCT ATAGATATCTCTAGATATCATAGATATCGAATCTATAGATATCTCTAGAT ATCATAGATATCTAATCTATAGATATCTCTAGATATAGATATCCAATCTA TAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTCTAGATA TCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATCTAATC TATAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTCTAGA TATCTATCTAATCTATAGATATCTCTAGATATCATAGACATCTAATCTAT AGATATCTCTAGATATCATAGATATCCAATCTATAGATATCTCTAGATAT AGATATCCAATCTATAGATATCTCTAGATATCACAGATATCTAATCTAT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(418): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA AAGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAG GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAG GAAGGAAGAAAGGAAGGAAAGAAGGA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0093 a0001c0093	a0001c0093t0001 a0001c0093t0001	a0001c0093t0001g0127 a0001c0093t0001g0127	1	134	0.0075	425	c.575 others(446): Show c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC TTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCT TCTTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCT TCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCC T	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PPM1L_chr3_160751231_161083902	160945046	A A	ATAACTAT others(418): Show ATAACTATATATAACATGTTATATATAACTATATATAACATGTTATATAT AACTATATATAACATGTTATATATAACTATATATAACATGTTATATATAA CTATATATAACATGTTATATATAACTATATATAACATGTTATATATAACT ATATATAACATGTTATATATAACTATATATAACATGTTATATATAACTAT ATATAACATGTTATATATAACTATATATAACATGTTATATATAACTATAT ATAACATGTTATATATAACTATATATAACATGTTATATATAACTATATAT AACATGTTATATATAACTATATATAACATGTTATATATAACTATATATAA CATGTTATATATAACTATATATAACATGTTATATATAACTATATATAACA TGTTATATATAACTATATATAACATG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0173 a0001c0001t0004g0173	1	206	0.0049	425	c.400 others(444): Show c.400-16689_400-16688insAACTATATATAACATGTTATATATAA CTATATATAACATGTTATATATAACTATATATAACATGTTATATATAACT ATATATAACATGTTATATATAACTATATATAACATGTTATATATAACTAT ATATAACATGTTATATATAACTATATATAACATGTTATATATAACTATAT ATAACATGTTATATATAACTATATATAACATGTTATATATAACTATATAT AACATGTTATATATAACTATATATAACATGTTATATATAACTATATATAA CATGTTATATATAACTATATATAACATGTTATATATAACTATATATAACA TGTTATATATAACTATATATAACATGTTATATATAACTATATATAACATG TTATATATAACTATATATAACATGTTATATATAACTATATATAACATGT	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PRKN_chr6_161342417_162732766	162011198	T T	TATATTAT others(418): Show TATATTATATATAATATAGTATATTTTATAATATATACTATATTATATAT AGTATATTTTATAATATATACTATATTATATATAATATAGTATATTTTAT AATATATACTATATTATATATAATATAGTATATTTTATAATATATACTAT ATTATATATAATATAGTATATATTTATAATATATACTATATATAATATAG TATATATTTATAATATATACTATATATAATATAGTATATATTTATAATAT ATACTATATATAATATAGTATATTTTATAATATATACTATATATAATATG GTATATATTTATAATATATACTATATATAATATGGTATATATTTATAATA TATACTATATATAATATGGTATATATTTATAATATATACTATATATAATA TAGTATATATTTATAATATATATACC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	32	0.0313	425	c.619 others(444): Show c.619-37782_619-37781insGGTATATATATTATAAATATATACTA TATTATATATAGTATATATTATAAATATATACCATATTATATATAGTATA TATTATAAATATATACCATATTATATATAGTATATATTATAAATATATAC CATATTATATATAGTATATATTATAAAATATACTATATTATATATAGTAT ATATTATAAATATATACTATATTATATATAGTATATATTATAAATATATA CTATATTATATATAGTATATATTATAAATATATACTATATTATATATAAT ATAGTATATATTATAAAATATACTATATTATATATAATATAGTATATATT ATAAAATATACTATATTATATATAATATAGTATATATTATAAAATATACT ATATATAATATAGTATATATTATAAAATATACTATATTATATATAATAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	5/11			chr6	TogoVar
RASA3_chr13_113972783_114137623	114044463	C C	CCGCCCCC others(418): Show CCGCCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCCCCCGCC CCGCCTCACTCGCTGAGCTCACCCCCCGCCTCACTCGCTGAGCACCCCCC CGCCCCGCCTCACTCGCTGAGCCCCCGCCCCGCCTCACTCGCTGAGCTCC CCCCCACGCCTCACTCGCTGAGCTCCCCCCCCCGCCTCACTCGCTGAGCC CCCCCGCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGA GCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCCCCGCCTCACTCGCT GAGCTCCCCCCCCCGCCTCACTCGCTGAGCTCCCCCCCCCGCCTCACTCG CTGAGCTCCCCCCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCAC TCGCTGAGCCCCCCCGCCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0063 a0001c0007t0002g0063	1	67	0.0149	425	c.278 others(442): Show c.278-3370_278-3369insCGGGGGGGGGCGGGGGGGCTCAGCGAGT GAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGGGGGGGAGCTCAGCG AGTGAGGCGGGGGGGGGAGCTCAGCGAGTGAGGCGGGGGGGGGAGCTCAG CGAGTGAGGCGGGGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGGGCTC AGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGG CTCAGCGAGTGAGGCGGGGGGGGGAGCTCAGCGAGTGAGGCGTGGGGGGG AGCTCAGCGAGTGAGGCGGGGCGGGGGCTCAGCGAGTGAGGCGGGGCGGG GGGGTGCTCAGCGAGTGAGGCGGGGGGTGAGCTCAGCGAGTGAGGCGGGG CGGGGGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGGCG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(418): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCTGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGGT GGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAG GGGGTCGGCGTGGGCGGTGGGGGAGA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0143 a0002c0005t0001g0143	1	412	0.0024	425	c.205 others(440): Show c.2059-89_2059-88insTCTCCCCCACCGCCCACGCCGACCCCCTCC TCTCTCCCCACCGCCCACGCCGACCCCTCCTCTCTCCCCACCGCCCACCG CCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCCTCCTCACTCCC CACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCT CCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAC AGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCC CCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCACAGGCCGACCCC TCCTCACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACTGCCCA CGCCGACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
REEP6_chr19_1486181_1502927	1500842	A A	AGGGGAGG others(418): Show AGGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGG AGGGGGAGGGGGAGGAGGGAGGAGGGGAGAGGGAGGAGGGGAGGGGGGGA GGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAG GAGGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGGAGGGGGGAGGAGGGA GGAGGGGAGGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGGAGGG GGAGGAGGGAAGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGAGGAGGGA AGGGGGAGGGGGAGGAGGGGAGGAGGGGGAGGGGGAGGAGGGGAAGGGGA GGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGA GGAGGGGACGGGGGAGGAGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	318	0.0031	425	c.36 others(436): Show c.3631_*3632insGGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGG AGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGAGGGAG GAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAG GAGGGGAGGGGGGAGGAGGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGG AGGGGGGAGGAGGGAGGAGGGGAGGGGGGGAGAGGGGGGAGGGGGAGAGG GGAGGAGGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGGAGGAGGG GAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGGAGGGGG AGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGG AGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2916		chr19	TogoVar
RNF139_chr8_124469880_124493618	124483108	T T	TATTATTT others(418): Show TATTATTTAAATATATATATATTTAAAAATATATATATTAAAAATATATA TATTTAAATATATATATTTTTAAATATGTATATTTAAATTATATAATTTA AATATATATTAATATACATATTTTAATATATATAATTTAAATATATATAT TTAAATATATATTAATATATATATTTAAAGATATATATTAAATTATATAT ATTAAAATATGTATATTAATATATATTTAAATTATATAATTTAAATATAC ATATTTAAAAATATATATATTTAAATATATATATTTTTAATATATATATT TTTAAATATATATATATTTATATATATATTTTTATATATATATTTATATA TATATTTTTATATATATATTTATATATATATTTTTATATATATATATTTA TATATATATTTTTAAATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0162 a0001c0002t0003g0162	1	408	0.0025	425	c.182 others(442): Show c.182-2723_182-2722insATTATTTAAATATATATATATTTAAAAA TATATATATTAAAAATATATATATTTAAATATATATATTTTTAAATATGT ATATTTAAATTATATAATTTAAATATATATTAATATACATATTTTAATAT ATATAATTTAAATATATATATTTAAATATATATTAATATATATATTTAAA GATATATATTAAATTATATATATTAAAATATGTATATTAATATATATTTA AATTATATAATTTAAATATACATATTTAAAAATATATATATTTAAATATA TATATTTTTAATATATATATTTTTAAATATATATATATTTATATATATAT TTTTATATATATATTTATATATATATTTTTATATATATATTTATATATAT ATTTTTATATATATATATTTATATATATATTTTTAAATATATATATA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1			chr8	TogoVar
RPH3AL_chr17_207389_357807	356169	T T	TTGCTAAC others(418): Show TTGCTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTGCTAACAGT CGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAG GCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCA CCACACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACA GTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCAC AGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCG CACCACACATACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTA CTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGT CTTCACAGGCGACCGCGCACCACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0067 a0001c0001t0031g0067	1	133	0.0075	425	c.-36 others(436): Show c.-3671_-3670insTGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGT TAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTG GTGCGCGGTCGCCTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCG CCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGAC GACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTA AGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTGTGGTGCGCGGT CGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAG ACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAG CAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGCA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3363		chr17	TogoVar
RPH3AL_chr17_207389_357807	356244	C C	CACTTACT others(418): Show CACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAAC AGTCGTCTTCACAGGCGACCGCGCACCACACTAACAGTCGTCTTCACAGG CGACCGCGCACCACACTAACAGTCGTCTTCACAGGCGACCGCGCACCACA CATACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTAACAG TCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACA GGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGC ACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTAC TAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGTC TTCACAGGCGACCGCGCACCACACTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 NA18522.hp2 HG02055.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0104 a0001c0001t0006g0105 a0001c0001t0001g0104 a0001c0001t0006g0105	2	133	0.0150	425	c.-37 others(436): Show c.-3746_-3745insAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTG TTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGT GGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTC GCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGA CGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGT ATGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTATGTGTGGTGC GCGGTCGCCTGTGAAGACGACTGTTAGTGTGGTGCGCGGTCGCCTGTGAA GACGACTGTTAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAA GTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3438		chr17	TogoVar
SARDH_chr9_133658560_133743352	133668443	T T	TACCCTCC others(418): Show TACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCTCTCTCCCTC ACCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCT CACCCTCACCCTCCCTCTCCCTCACCCTCACCCTCCCTCTCCCTCACCCT CCCTCTCCCCTCACCCTCTCTCTCCCTCACCCTCCCTCTCCCCTCGCCCT CCCTCTCCCCTCGCCCTCCCTCTCCCCTCACCCTCACCCTCCCTCTCCCT CACCCTCACCCTCCTCTCCCCTCACCCTCCCTCTCCCCTCGCCCTCCCTC TCCCCTCACCCTCATCCTCCCTCTCCCTCACCTCATCTCCCCTCACCCTC CCTCTCCCTCACCCTCCCTCTCCCCTCATCCTCCCTCTCCCTCACCCTCC CTCTCCCCTTACCCTCCCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0239 a0002c0004t0004g0239	1	262	0.0038	425	c.249 others(444): Show c.2496-1574_2496-1573insGAGGGAGGGGGAGGGTAAGGGGAGAG GGAGGGTGAGGGAGAGGGAGGATGAGGGGAGAGGGAGGGTGAGGGAGAGG GAGGGTGAGGGGAGATGAGGTGAGGGAGAGGGAGGATGAGGGTGAGGGGA GAGGGAGGGCGAGGGGAGAGGGAGGGTGAGGGGAGAGGAGGGTGAGGGTG AGGGAGAGGGAGGGTGAGGGTGAGGGGAGAGGGAGGGCGAGGGGAGAGGG AGGGCGAGGGGAGAGGGAGGGTGAGGGAGAGAGAGGGTGAGGGGAGAGGG AGGGTGAGGGAGAGGGAGGGTGAGGGTGAGGGAGAGGGAGGGTGAGGGTG AGGGGAGAGGGAGGGCGAGGGGAGAGGGAGGGCGAGGGGAGAGGGAGGGT GAGGGAGAGAGAGGGTGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78430203	T T	TTGTTTAT others(418): Show TTGTTTATAAATACTGTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATA AATACTGTATTTATTTATAAATACTG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0228 a0003c0004t0001g0229 a0003c0004t0001g0228 a0003c0004t0001g0229	2	332	0.0060	425	c.632 others(442): Show c.632+8244_632+8245insGTTTATAAATACTGTATTTATAAATACT GTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTAT TTATAAATACTGTATTTATAAATACTGTATTTATTTATAAATACTGT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430203	T T	TTGTTTAT others(418): Show TTGTTTATAAATACTGTGTTTATAAATACTGTATTTATTTATAAATACTG TATTTATTAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTAT TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	332	0.0030	425	c.632 others(442): Show c.632+8244_632+8245insGTTTATAAATACTGTGTTTATAAATACT GTATTTATTTATAAATACTGTATTTATTAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATT TATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGT ATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAA ATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTA TTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACT GTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430203	T T	TTGTTTAT others(418): Show TTGTTTATAAATACTGTGTTTATAAATACTGTATTTGTTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATA AATACTGTATTTATTTATAAATACTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	332	0.0030	425	c.632 others(442): Show c.632+8244_632+8245insGTTTATAAATACTGTGTTTATAAATACT GTATTTGTTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTAT TTATAAATACTGTATTTATAAATACTGTATTTATTTATAAATACTGT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SEL1L2_chr20_13844247_13995614	13934358	C C	CATATATA others(418): Show CATATATATATATATTCCATATATATATTCCATATATATATATTCCATAT ATATATATATTCCATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATTCCATATATATAT ATATTCCATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATTCCATATATATATTCCA TATATATATATATTCCATATATATATATTCCATATATATATTCCATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATTCCAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	324	0.0031	425	c.115 others(442): Show c.115-2588_115-2587insATGGAATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATGGAATATATATATGGAATATATATATATGGAATATATATATATATG GAATATATATATGGAATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATGGAATATAT ATATATATGGAATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATGGAATATATATATAT ATGGAATATATATATATGGAATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SHISA5_chr3_48462876_48509174	48486344	G G	GTATTATA others(418): Show GTATTATATATTATATAATATATAATATATAATGTATTATATATTATATA ATATATAATATATAATGTATTATATATTATATAATATATAATGTATTATA TATTATATATTATATAATATATAATGTATTATATATTATATATTATATAA TATATAATGTATTATATATTATATAATATATAATATAATGTATTATATAT TATATAATATATAATATATAATGTATTATTATATAATATATAATATATAG TGTATTATTATATAATATATAATGTATTATATATTATATAATATATAATA TATAATATATAATGTATTATATATTATATAATATATAATGTATTATATAT TATATAATATATAATATATAATGTATTATATATTATATAATATATAATAT ATAATGTATTATATATTATATAATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0089 a0001c0001t0007g0089	1	290	0.0035	425	c.234 others(442): Show c.234-7088_234-7087insATATTATATAATATATAATACATTATAT ATTATATATTATATAATATATAATACATTATATATTATATATTATATAAT ATATAATACATTATATATTATATAATATATAATACATTATATATTATATA TTATATATTATATAATATATAATACATTATATATTATATAATAATACACT ATATATTATATATTATATAATAATACATTATATATTATATATTATATAAT ATATAATACATTATATTATATATTATATAATATATAATACATTATATATT ATATAATATATAATATATAATACATTATATATTATATAATATATAATATA TAATACATTATATATTATATAATATATAATACATTATATATTATATATTA TATAATATATAATACATTATATATTATATATTATATAATATATAATA	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(418): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCGG GGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGGGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCCGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTCGCCGG GCGGGGGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGG CCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	314	0.0032	425	c.209 others(442): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCC GGCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCGGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCC GGCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(418): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCGG GGGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGGGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCCGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTCGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGG CCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01167.hp2 HG01175.hp2 others(10): Show HG00735.hp2 HG01167.hp2 HG01175.hp2 HG02015.hp2 HG02074.hp2 HG02080.hp2 HG02155.hp2 HG02486.hp2 HG02572.hp2 HG02615.hp1 NA18943.hp1 NA18949.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0099 a0001c0001t0002g0149 others(10): Show a0001c0001t0002g0090 a0001c0001t0002g0099 a0001c0001t0002g0149 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0169 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0192 a0001c0001t0002g0200 a0001c0001t0002g0226 a0001c0001t0002g0308	13	314	0.0414	425	c.209 others(442): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCGGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCCC GGCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(418): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCGG GGGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTTGGGGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCCGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTCGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGG CCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01099.hp2 HG01975.hp1 others(11): Show HG00140.hp1 HG01099.hp2 HG01975.hp1 HG02040.hp2 HG02080.hp1 NA18942.hp2 NA18962.hp2 NA18966.hp2 NA18972.hp2 NA18982.hp1 NA18995.hp1 NA19056.hp2 NA19088.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0161 others(11): Show a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0161 a0001c0001t0002g0164 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0190 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0004g0146	14	314	0.0446	425	c.209 others(442): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCGGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCCCCAACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCCC GGCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(418): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGTTTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCG GGGGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGGGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGTTTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTCGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGG CCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	314	0.0032	425	c.209 others(442): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAAACGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC AGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCCCG GCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCCGG CCAAACGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC35F1_chr6_117902264_118322671	118071064	G G	GTGTATAT others(418): Show GTGTATATATATACACATAGTATATATATTCTACGTATATATATACACAT AGTATATATATTCTACGTGTGTGTATATATATACACATAGTATATATATT CTACGTATATATATACACATAGTATATATATTCTACGTATATATATACAC ATAGTATATATATTCTACGTATATATATACACATAGTATATATATTCTAC GTGTGTATATATATACACATAGTATATATATTCTACGTGTGTATATATAT ACACATAGTATATATATTCTACGTGTATGTATACACATATATACATAGAA TATATATACTATGTGTATATATATACGTAGAATATATATACTATGTGTAT ATATACGTAGAATATATATACTATGTGTGTATATATACGTAGAATATATA TACTATGTGTATATATATACGTAGAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0115 a0001c0001t0051g0115	1	182	0.0055	425	c.174 others(444): Show c.174-83380_174-83379insGTATATATATACACATAGTATATATA TTCTACGTATATATATACACATAGTATATATATTCTACGTGTGTGTATAT ATATACACATAGTATATATATTCTACGTATATATATACACATAGTATATA TATTCTACGTATATATATACACATAGTATATATATTCTACGTATATATAT ACACATAGTATATATATTCTACGTGTGTATATATATACACATAGTATATA TATTCTACGTGTGTATATATATACACATAGTATATATATTCTACGTGTAT GTATACACATATATACATAGAATATATATACTATGTGTATATATATACGT AGAATATATATACTATGTGTATATATACGTAGAATATATATACTATGTGT GTATATATACGTAGAATATATATACTATGTGTATATATATACGTAGAAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLCO3A1_chr15_91848708_92170903	92143358	C C	CATATATA others(418): Show CATATATATATTATATAATATATATATAAAATATATATATATTATATAAT ATATATATAAAATATATATATATTATATATAAAATATATATATTATATAA TATATATATAAAATATATATATTATATAATATATATATAAAATATATATA TTATATAATATATATATAAAATATATATATTATATAATATATATATAAAA TATATATATTATATAATATATGTAATATTATATATAATATATATATTATA TATATTATATATTATATATATTATATATATTATATATAATATATATTATA TATTATATATATTATATATATTATATATAATATATTATATATAATATATA TAATATATATAATATATATATTATATATAATATATATAATATATATAAAA AATATATATATTATATAATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18612.hp1 HG03139.hp2 NA18612.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0005 a0002c0003t0011 a0001c0002t0005 a0002c0003t0011	a0001c0002t0005g0097 a0002c0003t0011g0017 a0001c0002t0005g0097 a0002c0003t0011g0017	2	190	0.0105	425	c.151 others(444): Show c.1513-3601_1513-3600insTAAAATATATATATATTATATAATAT ATATATAAAATATATATATATTATATATAAAATATATATATTATATAATA TATATATAAAATATATATATTATATAATATATATATAAAATATATATATT ATATAATATATATATAAAATATATATATTATATAATATATATATAAAATA TATATATTATATAATATATGTAATATTATATATAATATATATATTATATA TATTATATATTATATATATTATATATATTATATATAATATATATTATATA TTATATATATTATATATATTATATATAATATATTATATATAATATATATA ATATATATAATATATATATTATATATAATATATATAATATATATAAAAAA TATATATATTATATAATATATATAATATATATATTATATAATATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(418): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAG GGGGAAGCGGGAACGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGG AGGGGGAAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGGGG AAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGG GGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGG AGGGGGGAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGG GGGAGGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGG AGGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	251	0.0040	425	c.34 others(434): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCC ATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTC CCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCC CTTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTTCCCCCTCCCCTCCCCC TCCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCGTT CCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCC TCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(418): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGG GAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAACGGGGG AGGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGGG GAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAG GGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGG GAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGGAAGG GGGAGGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGG AGGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	251	0.0040	425	c.34 others(434): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCC TCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCA TCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCC CCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCC TTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCCTCCCCCGTTCC CGCTTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCC TCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCC TCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(418): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGG GAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGGAAGCGGGAACGGGG GAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGGG GAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAG GGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGG GAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGGG GGAGGGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGG AGGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	251	0.0040	425	c.34 others(434): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCCTCCCCCTTCCCCC TCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCA TCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCC CCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCC TTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCGTTCCC GCTTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCC TCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCC TCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGAGGG others(418): Show AGAGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGG GGAGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGA GGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGG GGGGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAG AGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGG GGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGA GGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGG GGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAG AGAGGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0031 a0001c0004t0031	a0001c0004t0031g0063 a0001c0004t0031g0063	1	276	0.0036	425	c.-18 others(444): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCC TCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCC CCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCTCCCC CCCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCC TCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTCC CCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTCCCTCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGAGG others(418): Show AGAGGAGGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGGG GGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGAG AGGGGGAGGAGGGGGGAGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGG GGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGA GGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGG GGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAG AGAGGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0149 a0001c0002t0021g0149	1	276	0.0036	425	c.-18 others(444): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCC TCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCC CCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCTCCCCCCTCCTCCCCCT CTCTCTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCTCC CCCCCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTC CCTCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCT CCCCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCCTCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(418): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGGG GGGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGA GAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGG GAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAG GGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG GAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGA GAGGGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0162 a0001c0001t0004g0162	1	276	0.0036	425	c.-18 others(444): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCCTC TCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTC CCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCC CTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTC TCTCTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCTCCC CCCCCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTC CCTCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCT CCCCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(418): Show AGAGGGAGGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGG GAGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAG GGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGG GGGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGA GAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGG GAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAG GGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG GAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGA GAGGGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0093 a0001c0001t0033g0093	1	276	0.0036	425	c.-18 others(444): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCCTC TCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTC CCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCC CTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTC TCTCTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCTCCC CCCCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCC CTCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTC CCCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672773	G G	GGGGGGGG others(418): Show GGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGGAGGGGG AGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGGGAGGGG GGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGGGGGAGAG AGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGAGAGGGGG AGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGAGAGAG AGGGGGAGGGAGGGAGGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGA GAGAGAGGGGGAGGGAGGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAG AGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGGG GGGGGAGAGAGAGGGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0067 a0001c0002t0005g0067	1	276	0.0036	425	c.-18 others(444): Show c.-18+37484_-18+37485insTCCCTCCCTCCCCCTCTCTCTCCCCC CCCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCCTCCCTCCCCCTCTCTC TCCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCCTCCCTCCCTCCCCCT CTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCT CCCCCTCTCTCTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCT CTCTCCCCCCCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCT CCCCCTCCCCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TGM2_chr20_38122385_38170270	38124007	T T	TATATATA others(418): Show TATATATAATATACCTATTATATACATTATATATAATATACCTATTATAT GCATTATATATAATATACCTATTATATGCATTATATATAATATACCTATT ATATGCATTATATATAATATACCTATTATATGCATTATATATAATATACC TATTATATGCATTATATAATATATTATATATAATATGCATATTATATGTA TTATATATTATATATTATATATATAATATACATATTATATGTATTATATA TTATATATTATATATATAATATACATATTATATGTATTATATATTATATA TAATATACATATTATATATTATATATTATATACATATTATATATTATATA TTATATACATATTATATATTATATACATATTATATATTATATATTATATA CATATTATACATTATATATATCTAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18982.hp2 NA18942.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0177 a0001c0001t0003g0209 a0001c0001t0003g0177 a0001c0001t0003g0209	2	360	0.0056	425	c.62 others(436): Show c.6211_*6212insTTTAGATATATATAATGTATAATATGTATATAAT ATATAATATATAATATGTATATAATATATAATATGTATATAATATATAAT ATATAATATGTATATAATATATAATATATAATATGTATATTATATATAAT ATATAATACATATAATATGTATATTATATATATAATATATAATATATAAT ACATATAATATGTATATTATATATATAATATATAATATATAATACATATA ATATGCATATTATATATAATATATTATATAATGCATATAATAGGTATATT ATATATAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTA TATTATATATAATGCATATAATAGGTATATTATATATAATGCATATAATA GGTATATTATATATAATGTATATAATAGGTATATTATATAT	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3377		chr20	TogoVar
THBS3_chr1_155190588_155212897	155190951	G G	GTGTCCGG others(418): Show GTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCG GGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGC GGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGG CTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGT GACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCG GGGCCGAGGTGACACCGTGGGCTGCGGGGCGCGGTGGAGCCCGGGGCCGG CCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGC CCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGC GCGGTGGAGCCCGGGGCCGGCCTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	298	0.0034	425	c.48 others(436): Show c.4889_*4890insAGCAGGCCGGCCCCGGGCTCCACCGCGCCCGCAG CCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCACC GCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCC GGGCTCCACCGCGCCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGC AGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTCGGC CCCGGACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGT GTCACCTCGGCCCCGGACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCC CAGCCCACGGTGTCACCTCGGCCCCGGACACCAGGCCGGCCCCGGGCTCC ACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGGACA	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4636		chr1	TogoVar
THEG_chr19_356747_381026	377080	C C	CTCTGTGC others(418): Show CTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCT CTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCA GCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCAC CCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCC CCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGT GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCC GTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCT CTGTACCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0296 a0002c0002t0001g0296	1	370	0.0027	425	c.-11 others(436): Show c.-1111_-1110insAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAG AGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACGGGGGGGG AGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAG AGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGG GGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGG TGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCT GGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1055		chr19	TogoVar
TM4SF19_chr3_196318547_196343388	196334825	G G	GATGCCCT others(418): Show GATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGG GTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTAGGAGA AGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCT GAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGT AGGAGAGGGAAGGGTGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGG TGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTG GGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGG AAGGGTGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGG AGGGTGGGTGTAGGAGAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01192.hp2 HG03669.hp1 HG00733.hp2 HG01192.hp2 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0053 a0002c0002t0001g0019 a0002c0002t0001g0053	3	370	0.0081	425	c.-2+ others(440): Show c.-2+3438_-2+3439insTCCCTTCCCTCTCCTACACCCACCCTCCCA GTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGGGCACCCTTCCCT CTCCTACACCCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCACC TTCTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACCCC TCCCTTCTCCTAACCCCCACCTTCTCAGGGCACCCTTCCCTCTCCTACAC CCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGGG CATCCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACCCCTCCCTTCTC CTAACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTC CCAGTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGGGCAT	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TP73_chr1_3647516_3741201	3694660	G G	GACCCTTC others(418): Show GACCCTTCCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGC AATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCCATGC AGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGACCCTTC CTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAG CCCTGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCAG CCCCTCCTCCTGCAATCCCACCCATGCAGCCTCAGCCCCTCCTCCCGCAA TCCCACCCATGCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGC CTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCC TGCAATCCCAGCCATGCAGCCTCAGC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	358	0.0028	425	c.186 others(444): Show c.186+11480_186+11481insACCCTTCCTCCCACAATCCCACCCAT GCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCC TCCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCC AGCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATGCAGCCTC AGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCCTCCTCCCA CAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCACCCATGC AGCCTCAGCCCCTCCTCCCGCAATCCCACCCATGCATCTTCAGCCCCTCC TCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGC CCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13			chr1	TogoVar
TRIM28_chr19_58539064_58555715	58539989	A A	AAACACCC others(418): Show AAACACCCTGCTTCCCTCCGCAGACAGGATTCTCCCCACAGAGACCCTGC TTCCCTCCTCAGACAGGATGCTCCCCACACACACCCTGCTTCCCTCCTCA GACAGGATTCTTCTCACACACACCCTGCTTCCCTCCTCAGACAGGATTCT CCCCACACACACCCCACTTCCCTCAGACAGGATTCTCCCCACACAGACCC TGCTTCCCTCCTCAGACAGGATTTTCCCCACACAGACCCTGCTTCCCTCC TCAGACAGGATTCTCCCCACACAGACCCTGCTTCCCTCCTCAGACAGGAT TTTCCCCACACAGACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACAC AGACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACAGACCCTGCTT CCCTCCTCAGACAGGATTCTCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	402	0.0025	425	c.-47 others(436): Show c.-4769_-4768insAACACCCTGCTTCCCTCCGCAGACAGGATTCTCC CCACAGAGACCCTGCTTCCCTCCTCAGACAGGATGCTCCCCACACACACC CTGCTTCCCTCCTCAGACAGGATTCTTCTCACACACACCCTGCTTCCCTC CTCAGACAGGATTCTCCCCACACACACCCCACTTCCCTCAGACAGGATTC TCCCCACACAGACCCTGCTTCCCTCCTCAGACAGGATTTTCCCCACACAG ACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACAGACCCTGCTTCC CTCCTCAGACAGGATTTTCCCCACACAGACCCTGCTTCCCTCCTCAGACA GGATTCTCCCCACACAGACCCTGCTTCCCTCCTCAGACAGGATTCTCCCC ACACAGACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCCC	TRIM28	ENSG00000130726.12	transcript	ENST00000253024.10	protein_coding		4074		chr19	TogoVar
TRIM28_chr19_58539064_58555715	58540026	A A	ACAGAGAC others(418): Show ACAGAGACCCTGCTTCCCTCCTCAGACAGGATGCTCCCCACACACACCCT GCTTCCCTCCTCAGACAGGATTCTTCTCACACACACCCTGCTTCCCTCCT CAGACAGGATTCTCCCCACACACACCCCACTTCCCTCAGACAGGATTCTC CCCACACAGACCCTGCTTCCCTCCTCAGACAGGATTTTCCCCACACAGAC CCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACAGACCCTGCTTCCCT CCTCAGACAGGATTTTCCCCACACAGACCCTGCTTCCCTCCTCAGACAGG ATTCTCCCCACACAGACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCAC ACAGACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCCCACACCCTGCTT CCCTCCTCAGACAGGATTCTCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	402	0.0025	425	c.-47 others(436): Show c.-4732_-4731insCAGAGACCCTGCTTCCCTCCTCAGACAGGATGCT CCCCACACACACCCTGCTTCCCTCCTCAGACAGGATTCTTCTCACACACA CCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACACACCCCACTTCCC TCAGACAGGATTCTCCCCACACAGACCCTGCTTCCCTCCTCAGACAGGAT TTTCCCCACACAGACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACAC AGACCCTGCTTCCCTCCTCAGACAGGATTTTCCCCACACAGACCCTGCTT CCCTCCTCAGACAGGATTCTCCCCACACAGACCCTGCTTCCCTCCTCAGA CAGGATTCTCCCCACACAGACCCTGCTTCCCTCCTCAGACAGGATTCTCC CCCCACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCCC	TRIM28	ENSG00000130726.12	transcript	ENST00000253024.10	protein_coding		4037		chr19	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(418): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC CTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCC TCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCC CTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTTTCTCCCTTCCCCCTTACCCCCTTCCTCTCTTC CCCCTTCCTCCCTCCTCCTTTCCTTTCTCCCTCCTCCCTTCCGCCCTCCT CCCCTTCCCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0011 a0011	a0011c0032 a0011c0032	a0011c0032t0001 a0011c0032t0001	a0011c0032t0001g0249 a0011c0032t0001g0249	1	334	0.0030	425	c.657 others(440): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCC TCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCC CCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTC CCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTCCCCCTTAC CCCCTTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCCTCCT CCCTTCCGCCCTCCTCCCCTTCCCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TXNDC16_chr14_52425596_52557505	52530556	A A	ATATTATA others(418): Show ATATTATATATAATAATATAATATATATTATTATATATTATTATATATAA TAATATAATATATATTATTATATATTATTATATATAATATAATATATATT ATTATATATTATTATATATAATATAATATATATTATTATATATTATTATA TATAATATAATATATATTATTATATATTATTATATATAATATAATATATA TTATTATATATTATTATATATAATATAATATATATTATTATATATTATTA TATATAATATAATATATATTATTATATATTATTATATATAATAATATATA ATATATATTATTATATATTATTATATATAATAATATAATATATATTATTA TATATAATAATATAATATATATTATTATATATTATTATATATAATATAAT ATATATTATTATATATTATTATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01168.hp2 HG02257.hp1 others(8): Show HG00280.hp1 HG01168.hp2 HG02257.hp1 HG02683.hp1 HG02922.hp1 NA18950.hp2 NA18964.hp2 NA18971.hp2 NA18983.hp2 NA19079.hp2 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0008 a0001c0002t0001 a0001c0002t0008	a0001c0002t0001g0003 a0001c0002t0001g0082 a0001c0002t0001g0083 others(7): Show a0001c0002t0001g0003 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0008g0073 a0001c0002t0008g0118	11	238	0.0462	425	c.392 others(442): Show c.392+6162_392+6163insATATATAATAATATATAATAATATATAT TATATTATATATAATAATATATAATAATATATATTATATTATTATATATA ATAATATATATTATATTATTATATATAATAATATATAATAATATATATTA TATATTATTATATATAATAATATATAATAATATATATTATATTATATATA ATAATATATAATAATATATATTATATTATATATAATAATATATAATAATA TATATTATATTATATATAATAATATATAATAATATATATTATATTATATA TAATAATATATAATAATATATATTATATTATATATAATAATATATAATAA TATATATTATATTATATATAATAATATATAATAATATATATTATATTATT ATATATAATAATATATAATAATATATATTATATTATTATATATAATA	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
WDR64_chr1_241647281_241807777	241674987	C C	CCCTCCCT others(418): Show CCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTT CCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCC CTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCC TCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTC CCTCCTTCCTGCCTCCCTCCCTCCTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0015 a0015	a0015c0027 a0015c0027	a0015c0027t0001 a0015c0027t0001	a0015c0027t0001g0122 a0015c0027t0001g0122	1	326	0.0031	425	c.483 others(440): Show c.483+243_483+244insCCCTCCTTCCTGCCTCCCTCCCTCCTTCCT GCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTC CTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCC CTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTGCCTCCCTCCCT CCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCT	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar

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