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
LHPP_chr10_124456823_124619141	124471486	A A	ATATATAT others(390): Show ATATATATAAATTTTTTTATATTTATATATTTTTTATATATTTATATATA TTACATATATTTTTATATTTTATATATATTTATATATTTATATATTTATA TATTTTTTATATATTTATATATTTATATATATATTTATATATATTTATGT ATATTTATATATATATTTATATATATTTATGTATATTTATATATATATTT ATATATATTTATGTATATTTATATATATTTATATATTTATGTATATATTT ATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATTT ATATATATTTATATGTATTTATATATATTTATATATTTATATGTATTTAT ACATATATATTTATATGTATTTATATATATTTATATATATTTTTTATG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0260 a0003c0003t0002g0260	1	209	0.0048	397	c.125 others(414): Show c.125+9502_125+9503insATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTATATATTTATATATTTTTTATATATTTATATATTTATATATAT ATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATGT ATATTTATATATATATTTATATATATTTATGTATATTTATATATATTTAT ATATTTATGTATATATTTATATATATTTATATATTTATGTATAAATTTAT ATATATTTATATGTATTTATATATATTTATATGTATTTATATATATTTAT ATATTTATATGTATTTATACATATATATTTATATGTATTTATATATATTT ATATATATTTTTTATGTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124610422	A A	AGGGTGAG others(390): Show AGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGT GGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGC GGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTG GAGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCG GGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGG AGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGGTGAGGGAGCG GGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGG AGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGC	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	98	0.0102	397	c.717 others(414): Show c.717-2828_717-2827insGTGGAGCGGGTGAGGGTGCGGGTGAGGG TGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTG AGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGT GCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGA GGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTG CTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGGTGA GGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTG CTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAG GGTGCGGGTGAGGGTGCTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	858262	A A	AGTGGTGT others(390): Show AGTGGTGTCACGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGCGTG GTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGT CTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCT CGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGG ATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATG GGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGT GTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTG AGTGGTGACTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0005 a0005	a0005c0025 a0005c0025	a0005c0025t0007 a0005c0025t0007	a0005c0025t0007g0294 a0005c0025t0007g0294	1	272	0.0037	397	c.153 others(416): Show c.1530-3557_1530-3556insGCACACCCATCCCGAGACACCACTGC ACACCCATCCCGAGTCACCACTCACACCCATCCCGAGACACCACTCACAC CCATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTCACACCCA TCCCGAGACACCACTGCACACCCATCCCGAGACACCACTGCACACCCATC CCGAGACACCACGCACACCCATCCCGAGACACCACTCACACCCATCCCGT GACACCACTCACACCCATCCCGAGACACCACTGCACACCCATCCCGAGAC ACCACTGCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACACC ACTCACACCCATCCCGAGACACCACGCACACCCATCCCGAGACACCACGC ACACCCATCCCGTGACACCAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858916	C C	CAGTGGTG others(390): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAG TGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGT CTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCAC GGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGA TGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGACGG GTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGT GCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0099 a0001c0012t0001g0099	1	290	0.0034	397	c.153 others(416): Show c.1530-4211_1530-4210insCACACCCGTCCCGTGACACCACTCAC ACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCACACC CGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCATC CCGAGACACCACTGCACACCCATCCCGAGACACCACTCACACCCATCCCG AGACACCACTCACACCCATCCCGTGACACCACTCACACCCATCCCGAGAC ACCACTGCACACCCATCCCGAGACACCACTCACACCCGTCCCGAGACACC ACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCAC GCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858987	G G	GAGTGGTG others(390): Show GAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCG TGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTG GTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTG TCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTC GGGATGGGTGTGAGTGATGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGG ATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATG GGTGTGCAGTGATGTCACGGGATGGGTGTGAGTGGTGTCACGGGATGGGT GTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	243	0.0041	397	c.153 others(416): Show c.1530-4282_1530-4281insACACCCATCCCGTGACACCACTCACA CCCATCCCGAGACACCACTCACACCCATCCCGTGACACCACTCACACCCA TCCCGTGACATCACTGCACACCCATCCCGTGACACCACTCACACCCATCC CGAGACACCACTGCACACCCATCCCGAGACACCACTGCACACCCATCCCG AGACATCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGTGAC ACCACTCACACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACC ACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT GCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACTGCA CACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858987	G G	GAGTGGTG others(390): Show GAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCG TGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTG GTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTG TCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTC GGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGG ATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATG GGTGTGCAGTGATGTCACGGGATGGGTGTGAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0290 a0001c0006t0001g0290	1	243	0.0041	397	c.153 others(416): Show c.1530-4282_1530-4281insACACCCGTCCCGTGACACCACTCACA CCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCA TCCCGTGACATCACTGCACACCCATCCCGTGACACCACTCACACCCATCC CGAGACACCACTGCACACCCATCCCGAGACACCACTGCACACCCATCCCG AGACACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGTGAC ACCACTCACACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACC ACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT GCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACTGCA CACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858987	G G	GAGTGGTG others(390): Show GAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCG TGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTG GTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTG TCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTC GGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGG ATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATG GGTGTGCAGTGATGTCACGGGATGGGTGTGAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02970.hp1 HG02486.hp2 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0284 a0001c0002t0001g0021 a0001c0002t0001g0284	2	244	0.0082	397	c.153 others(416): Show c.1530-4282_1530-4281insACACCCGTCCCGTGACACCACTCACA CCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCA TCCCGTGACATCACTGCACACCCATCCCGTGACACCACTCACACCCATCC CGAGACACCACTGCACACCCATCCCGAGACACCACTGCACACCCATCCCG AGACACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGTGAC ACCACTCACACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACC ACTCACACCCATCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT GCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACTGCA CACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858987	G G	GAGTGGTG others(390): Show GAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCG TGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTG GTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTG TCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTC GGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGG ATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATG GGTGTGCAGTGATGTCACGGGATGGGTGTGAGTGGTGTCACGGGATGGGT GTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02559.hp1 HG02004.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0251 a0001c0001t0001g0106 a0001c0001t0001g0251	2	244	0.0082	397	c.153 others(416): Show c.1530-4282_1530-4281insACACCCATCCCGTGACACCACTCACA CCCATCCCGAGACACCACTCACACCCATCCCGTGACACCACTCACACCCA TCCCGTGACATCACTGCACACCCATCCCGTGACACCACTCACACCCATCC CGAGACACCACTGCACACCCATCCCGAGACACCACTGCACACCCATCCCG AGACACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGTGAC ACCACTCACACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACC ACTCACACCCATCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT GCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACTGCA CACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858987	G G	GAGTGGTG others(390): Show GAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCG TGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTG GTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTG TCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTC GGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGG ATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCACGGGATG GGTGTGCAGTGATGTCACGGGATGGGTGTGAGTGGTGTCACGGGATGGGT GTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0003 a0003	a0003c0032 a0003c0032	a0003c0032t0001 a0003c0032t0001	a0003c0032t0001g0007 a0003c0032t0001g0007	1	243	0.0041	397	c.153 others(416): Show c.1530-4282_1530-4281insACACCCATCCCGTGACACCACTCACA CCCATCCCGAGACACCACTCACACCCATCCCGTGACACCACTCACACCCA TCCCGTGACATCACTGCACACCCATCCCGTGACACCACGCACACCCATCC CGAGACACCACTGCACACCCATCCCGAGACACCACTGCACACCCATCCCG AGACACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGTGAC ACCACTCACACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACC ACTCACACCCATCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT GCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACTGCA CACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LOC102723971_chr9_135609183_135624893	135619921	A A	ATCTCCCC others(390): Show ATCTCCCCCTTCTCCCCCTACTCCCCTTCTCCCCCTTCTCCCCCATCTGC CCAGTATCCCCTTCTCCCCCTTCTTCCCCTACTCCCCCTACTCCCCCATC TCCCTCTTCTCCCCTATCTCCCCCTTCTCCCCCTACTCCCCCTTCTCCCC CGTCTCCCCTGTCTGCCCAGTCTCCCCCATCTCCCCCTACTCCCCCTTCT CCCCCTACTCCTTCTCCCCCTTCTCCACCTTCCCCCTCTACTCCCCCTTC TCCCCCTACTCCCCCGTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCC CTTCTCCCCCTACTCCCCCGTCTCCCCCGTCTCCCCCTTCTCCCCCTACT CCTTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCCCGTCTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0001 a0001c0001t0020g0001	1	434	0.0023	397	c.96 others(406): Show c.969_*970insTCTCCCCCTTCTCCCCCTACTCCCCTTCTCCCCCTT CTCCCCCATCTGCCCAGTATCCCCTTCTCCCCCTTCTTCCCCTACTCCCC CTACTCCCCCATCTCCCTCTTCTCCCCTATCTCCCCCTTCTCCCCCTACT CCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCAGTCTCCCCCATCTCCCCC TACTCCCCCTTCTCCCCCTACTCCTTCTCCCCCTTCTCCACCTTCCCCCT CTACTCCCCCTTCTCCCCCTACTCCCCCGTCTCCCCCTTCTCCCCCTTCC CCCTCTACTCCCCCTTCTCCCCCTACTCCCCCGTCTCCCCCGTCTCCCCC TTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCC CGTCTCCCCCG	LOC102723971	ENSG00000236543.3	transcript	ENST00000430816.3	protein_coding		29		chr9	TogoVar
LOC102723971_chr9_135609183_135624893	135619921	A A	ATCTCCCC others(390): Show ATCTCCCCCTTCTCCCCCTACTCCCCTTCTCCCCCTTCTCCCCCATCTGC CCAGTATCCCCTTCTCCCCCTTCTTCCCCTACTCCCCCTACTCCCCCATC TCCCTCTTCTCCCCTATCTCCCCCTTCTCCCCCTACTCCCCCTTCTCCCC CGTCTCCCCTGTCTGCCCAGTCTCCCCCATCTCCCCCTACTCCCCCTTCT CCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCCCTTC TCCCCCTACTCCCCCGTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCC CTTCTCCCCCTACTCCCCCGTCTCCCCCGTCTCCCCCTTCTCCCCCTACT CCTTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCCCGTCTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 NA18985.hp1 NA19077.hp2 HG01978.hp2 NA18985.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	436	0.0069	397	c.96 others(406): Show c.969_*970insTCTCCCCCTTCTCCCCCTACTCCCCTTCTCCCCCTT CTCCCCCATCTGCCCAGTATCCCCTTCTCCCCCTTCTTCCCCTACTCCCC CTACTCCCCCATCTCCCTCTTCTCCCCTATCTCCCCCTTCTCCCCCTACT CCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCAGTCTCCCCCATCTCCCCC TACTCCCCCTTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCCCT CTACTCCCCCTTCTCCCCCTACTCCCCCGTCTCCCCCTTCTCCCCCTTCC CCCTCTACTCCCCCTTCTCCCCCTACTCCCCCGTCTCCCCCGTCTCCCCC TTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCC CGTCTCCCCCG	LOC102723971	ENSG00000236543.3	transcript	ENST00000430816.3	protein_coding		29		chr9	TogoVar
MAP3K19_chr2_134959491_135052447	135033820	G G	GGGGGGCT others(390): Show GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCCCCCCTCACCTCCC GGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACACCGCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTG AACGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19030.hp1 NA19043.hp2 others(1): Show HG03130.hp2 NA19030.hp1 NA19043.hp2 NA21309.hp2	a0001 a0024 a0026 a0001 a0024 a0026	a0001c0005 a0024c0034 a0026c0035 a0001c0005 a0024c0034 a0026c0035	a0001c0005t0001 a0001c0005t0002 a0024c0034t0002 others(1): Show a0001c0005t0001 a0001c0005t0002 a0024c0034t0002 a0026c0035t0002	a0001c0005t0001g0130 a0001c0005t0002g0128 a0024c0034t0002g0119 others(1): Show a0001c0005t0001g0130 a0001c0005t0002g0128 a0024c0034t0002g0119 a0026c0035t0002g0118	4	327	0.0122	397	c.-28 others(416): Show c.-283-3321_-283-3320insGCCCGGCCAGCCACCCCGTCCGGGAG GTGAGGGGCGCCTCTGCCCGTTCACCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGCGGTGTGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGGGCCTCTGCCCAGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCGCCCGGCCAGCCACCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCAGCCACCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCC	MAP3K19	ENSG00000176601.14	transcript	ENST00000392915.7	protein_coding	2/12			chr2	TogoVar
MEGF6_chr1_3482951_3616508	3587876	C C	CTAGGAGG others(390): Show CTAGGAGGAGACAGGACCGGCCAGGAGTGGCCAGGAGTGGACAGGAGGAG ACAGGAGGGGACAGGAGTGGATAGGAGGAGATAGGAGGGGACAGGAGTGG ACAGAAGGAGACAGGAGGGGACAGGAGTGGATAGGAGTGGACAGGAGGAG ACAGGAGGGGCCAGGAGTGGACAGGAGTGGACAGGAGACAGGAGGGGACA GGAGTGGATAGGAGTGGACAGGAGGAGACAGGAATGGCCAAGAGGGGACA GGAGTGGCCAGGAGGGGGCAGAAGTGGCCAGGAGTGGGCAGGAGGGGGCA GGACAGGCCAGGAGGAGGCAGGAGGGGGCAGGAGGGGACAGGAGGGGGCA GGAGGGGACAGGAGGGGGCAGGAGTGGCCAGGAGGGGGCAGGAGGGGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG02004.hp1 others(13): Show HG00558.hp2 HG00609.hp2 HG02004.hp1 HG02015.hp2 HG02976.hp1 NA18959.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp2 NA18980.hp2 NA19003.hp2 NA19066.hp2 NA19070.hp1 NA19088.hp2 NA19090.hp2	a0001 a0003 a0006 others(9): Show a0001 a0003 a0006 a0007 a0008 a0010 a0011 a0012 a0020 a0029 a0038 a0046	a0001c0001 a0003c0003 a0006c0006 others(9): Show a0001c0001 a0003c0003 a0006c0006 a0007c0008 a0008c0021 a0010c0010 a0011c0011 a0012c0103 a0020c0041 a0029c0101 a0038c0039 a0046c0071	a0001c0001t0001 a0001c0001t0007 a0003c0003t0001 others(11): Show a0001c0001t0001 a0001c0001t0007 a0003c0003t0001 a0003c0003t0009 a0006c0006t0016 a0007c0008t0001 a0008c0021t0001 a0010c0010t0001 a0011c0011t0064 a0012c0103t0003 a0020c0041t0002 a0029c0101t0003 a0038c0039t0008 a0046c0071t0039	a0001c0001t0001g0043 a0001c0001t0001g0223 a0001c0001t0001g0228 others(13): Show a0001c0001t0001g0043 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0007g0227 a0003c0003t0001g0151 a0003c0003t0009g0109 a0006c0006t0016g0224 a0007c0008t0001g0226 a0008c0021t0001g0182 a0010c0010t0001g0225 a0011c0011t0064g0292 a0012c0103t0003g0222 a0020c0041t0002g0083 a0029c0101t0003g0221 a0038c0039t0008g0051 a0046c0071t0039g0061	16	217	0.0737	397	c.376 others(414): Show c.376+7461_376+7462insTCCCCTCCTGCCCCCTCCTGGCCACTCC TGCCCCCTCCTGTCCCCTCCTGCCCCCTCCTGTCCCCTCCTGCCCCCTCC TGCCTCCTCCTGGCCTGTCCTGCCCCCTCCTGCCCACTCCTGGCCACTTC TGCCCCCTCCTGGCCACTCCTGTCCCCTCTTGGCCATTCCTGTCTCCTCC TGTCCACTCCTATCCACTCCTGTCCCCTCCTGTCTCCTGTCCACTCCTGT CCACTCCTGGCCCCTCCTGTCTCCTCCTGTCCACTCCTATCCACTCCTGT CCCCTCCTGTCTCCTTCTGTCCACTCCTGTCCCCTCCTATCTCCTCCTAT CCACTCCTGTCCCCTCCTGTCTCCTCCTGTCCACTCCTGGCCACTCCTGG CCGGTCCTGTCTCCTCCTA	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
METRNL_chr17_83074609_83100122	83090506	A A	ACCCCCGC others(390): Show ACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACCCCCGCCCCGCCCCAG GGTGGGAACCACACACACACCCCCCACCCCCCGCCCCAGGGTGGGAACCA CACACACACCCCCCACCCCCCGCCCCAGGGTGGGAGCCACACACACACAC CCCCCCCACACACACACCCCGCCCCACACACACACCCCCCGCCCCACACA CACACACCCCGCCCCACACACACACCCCCCGCCCCACACACACACACACC CCCGCCCCACACACACACACCCCCGCCCCACACACACACACCCCCGCCCC GCCCCAGGGTGGGAGCCACACACCCCCGCCCCGCCCCAGGGTGGGAACCA CACACACACCCCCCACCCCCCGCCCCAGGGTGGGAGCCACACACACAC	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0341 a0001c0001t0005g0341	1	255	0.0039	397	c.557 others(414): Show c.557-2651_557-2650insGCCCCAGGGTGGGAGCCACACACCCCCG CCCCGCCCCAGGGTGGGAACCACACACACACCCCCCACCCCCCGCCCCAG GGTGGGAACCACACACACACCCCCCACCCCCCGCCCCAGGGTGGGAGCCA CACACACACACCCCCCCCACACACACACCCCGCCCCACACACACACCCCC CGCCCCACACACACACACCCCGCCCCACACACACACCCCCCGCCCCACAC ACACACACACCCCCGCCCCACACACACACACCCCCGCCCCACACACACAC ACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACCCCCGCCCCGCCCCAG GGTGGGAACCACACACACACCCCCCACCCCCCGCCCCAGGGTGGGAGCCA CACACACACCCCCCGCCCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
METRNL_chr17_83074609_83100122	83090506	A A	ACCCCCGC others(390): Show ACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCC CGCCCCAGGGTGGGAGCCACACACACACACCCCCCCCCACACACACCCCG CCCCACACACACACCCCCCGCCCCACACACACACACCCCGCCCCACACAC ACACACACCCCCGCCCCACACACACACACCCCCCGCCCCACACACACACA CCCCCGCCCCACACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCAC ACACACACCCCCCACCCCCCGCCCCAGGGTGGGAGCCACACACACACCCC CCACCCCCCGCCCCAGGGTGGGAGCCACACACACACACACCCCCCCACAC ACACACCCCCCGCCCCACACACACACCCCCCGCCCCACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0104 a0001c0001t0017g0104	1	255	0.0039	397	c.557 others(414): Show c.557-2652_557-2651insTGCCCCAGGGTGGGAGCCACACACACAC CCCCCACCCCCCCGCCCCAGGGTGGGAGCCACACACACACACCCCCCCCC ACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACACACACCC CGCCCCACACACACACACACCCCCGCCCCACACACACACACCCCCCGCCC CACACACACACACCCCCGCCCCACACACACACACCCCCGCCCCGCCCCAG GGTGGGAGCCACACACACACCCCCCACCCCCCGCCCCAGGGTGGGAGCCA CACACACACCCCCCACCCCCCGCCCCAGGGTGGGAGCCACACACACACAC ACCCCCCCACACACACACCCCCCGCCCCACACACACACCCCCCGCCCCAC ACACACACACCCCCCGCCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MLIP_chr6_54106443_54271280	54251554	G G	GTATATAT others(390): Show GTATATATTTATATATATAATATATATTATATAATATATAATATATATTA TATAATATAAAATATATATTATATTATATTATATTATGTATTATATAATA TAATATATAATATTATATATTATAATATATATTATAATATATAATATTAT ATATTATAATATATATTATAATATATAATATATAATATTATATATTATAA TATATATTATATTATATAATATTATATATTATATTATATAATACATAATA TAATATAATATATTATATTATATAATATTATATAATATATAATATTATAT ATTATATTATATATTATATATTATATTATATAATATATAATATTATATAT ATTATAACATAATATATAATATAAATATATATTATAGCATATAATATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0159 a0002c0003t0002g0159	1	145	0.0069	397	c.292 others(416): Show c.2923-5752_2923-5751insTATATTTATATATATAATATATATTA TATAATATATAATATATATTATATAATATAAAATATATATTATATTATAT TATATTATGTATTATATAATATAATATATAATATTATATATTATAATATA TATTATAATATATAATATTATATATTATAATATATATTATAATATATAAT ATATAATATTATATATTATAATATATATTATATTATATAATATTATATAT TATATTATATAATACATAATATAATATAATATATTATATTATATAATATT ATATAATATATAATATTATATATTATATTATATATTATATATTATATTAT ATAATATATAATATTATATATATTATAACATAATATATAATATAAATATA TATTATAGCATATAATATATA	MLIP	ENSG00000146147.15	transcript	ENST00000502396.6	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
MSLN_chr16_755734_773862	767566	T T	TGCGTGGA others(390): Show TGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTG GGGGGCGTGGAGGAGGGGTGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGA GGAGGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTG GAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGG GGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAG GAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGT GGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGG GGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	246	0.0041	397	c.159 others(414): Show c.1596+163_1596+164insTGCGTGGAGGGGGCCGTGTGGGGGGGCG TGGAGGAGGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGG CGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCAT GGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGT GGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGC GCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGT GTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGG GCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGT GGGGGGCGTGGAGGAGGGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767753	C C	CGCGTGGG others(390): Show CGCGTGGGGGGTGTGTGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGT GCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGCGTGGAGGAGGG GCGCGTGGAGGGGGCGCGTGGGGGGGCGTGGGAGGAGGGGCGCGTGGAGG GGGGCGCCGTGGGGGGGTGTGGAGGGGGCGCGTGGGGGTGTGTGGGGGGG CACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCTGGAGG AGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGT GGAGGAGGGGCGCGTGGAGGGGGGCACGTGGGGGGGTGTGGAGGGGGGCG CGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	364	0.0027	397	c.159 others(414): Show c.1596+289_1596+290insGGGGTGTGTGGGGGGGCACGTGGAGGGG GGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGG GGGCGTGGAGGAGGGGCGCGTGGAGGGGGCGCGTGGGGGGGCGTGGGAGG AGGGGCGCGTGGAGGGGGGCGCCGTGGGGGGGTGTGGAGGGGGCGCGTGG GGGTGTGTGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAG GAGGGGCGCTGGAGGAGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGC CGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCACGTGGGGGG GTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGG CGTGTGGGGGGGTGCGTGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767880	G G	GGGGGGGG others(390): Show GGGGGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGTGT GGGGGGGGGCGCGTGGAGGGGGCGCGTGGAGGGGGCGCGTGGGGGGGCGT GGAGGGGGGGCGAGTGGAGGGGGGCGCGTGGGGGGGCGCATGGGGGGGTG TGGAGGGGGGCGCGTGGAGGGGGCGCGTGGAGGGGGGAGCGTGGGGGGGC GTGGAGGGGGGCGCGTGGAGGGGGGGCGAGTGGAGGGGGGCGCGTGGGGG GGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCGCGTGGAGGG GGGAGCGTGGGGGTGCGTGGAGGGGGGCGCGTGGAGGGGGGAGCATGGGG GGGCGTGGAGGAGGGGCGCGTGGAGGGGGGGCGAGTGGAGGGGGGCGC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0021 a0002c0003t0004g0021	1	381	0.0026	397	c.159 others(414): Show c.1596+411_1596+412insGGGGGGCGCGTGGAGGGGGGCGCGTGGG GGGGGCGCATGGGGGGGTGTGGGGGGGGGCGCGTGGAGGGGGCGCGTGGA GGGGGCGCGTGGGGGGGCGTGGAGGGGGGGCGAGTGGAGGGGGGCGCGTG GGGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCGCGTGG AGGGGGGAGCGTGGGGGGGCGTGGAGGGGGGCGCGTGGAGGGGGGGCGAG TGGAGGGGGGCGCGTGGGGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCG TGGAGGGGGCGCGTGGAGGGGGGAGCGTGGGGGTGCGTGGAGGGGGGCGC GTGGAGGGGGGAGCATGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGG GCGAGTGGAGGGGGGCGCG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MXRA8_chr1_1347691_1363555	1351426	G G	GGAGGGGG others(390): Show GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGTCCTGGACGGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGTCCTGGACGGGGCGGGAGCGACGGGGGGAGTGAGGAGGGGTCC TGGACGGGGCGGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC GGGAGCGACGGGGGGAGTGAGGAGGGGTCCTGGACGGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACGGGGCTGGAGCGGTGGGGAGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02970.hp1 HG02109.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0008 a0001c0001t0007g0008	2	313	0.0064	397	c.21 others(408): Show c.2177_*2178insACTCTCCCCACCGCTCCAGCCCCGTCCAGGCCCC CTCCTCACTCCCCCCGTCGCTCCTGCCCCGTCCAGGACCCCTCCTCACTC CCCCCGTCGCTCCCGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCGTCGC TCCCGCCCCGTCCAGGACCCCTCCTCACTCCCCCCGTCGCTCCCGCCCCG TCCAGGACCCCTCCTCACTCCCCCCGTCGCTCCTGCCCCGTCCAGGACCC CTCCTCACTCCCCCCGTCGCTCCTGCCCCGTCCAGGCCCCCTCCTCACTC CCCCCGTCGCTCCTGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCGTCGC TCCTGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCGTCGCTCCTGCCCCG TCCAGGCCCCCTC	MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding		1264		chr1	TogoVar
MYL2_chr12_110905845_110925579	110905917	A A	ATATATAA others(390): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATAATATATATTATATAAAATATATA TTATATTATATAATATATATTTTATAAAATATATATTATATTATATAATA TATATTTTATAAAATATATATTATATTATATAATATATATTTTATAAAAT ATATATTATATTATATATAATATATATTATATAAAATATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	117	0.0085	397	c.51 others(408): Show c.5159_*5160insATATAATATATATTTTATATAATATATATTATAT ATAATATAATATATATTTTATAAAATATATATTATATAATATAATATATA TTTTATAAAATATATATTATATAATATAATATATATTTTATAAAATATAT ATTATATAATATAATATATATTTTATATAATATATATTATATAATATAAT ATATATTTTATATAATATATATTATATATAATATAATATATATTTTATAT AATATATATTATATATAATATAATATATATTTTATATAATATATATTATA TATAATATAATATATATTTTATATAATATATATTATATATAATATAATAT ATATTTTATATAATATATATTATATATAATATAATATATATTATATATAA TATATATTATATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4927		chr12	TogoVar
MYL2_chr12_110905845_110925579	110905917	A A	ATATATAA others(390): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATAATATATATTATATAAAATATATA TTATATTATATAATATATATTTTATAAAATATATATTATATTATATAATA TATATTTTATAAAATATATATTATATTATATATAATATATTTTATAAAAT ATATATTATATTATATATAATATATATTATATAAAATATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	117	0.0085	397	c.51 others(408): Show c.5159_*5160insATATAATATATATTTTATATAATATATATTATAT ATAATATAATATATATTTTATAAAATATATTATATATAATATAATATATA TTTTATAAAATATATATTATATAATATAATATATATTTTATAAAATATAT ATTATATAATATAATATATATTTTATATAATATATATTATATAATATAAT ATATATTTTATATAATATATATTATATATAATATAATATATATTTTATAT AATATATATTATATATAATATAATATATATTTTATATAATATATATTATA TATAATATAATATATATTTTATATAATATATATTATATATAATATAATAT ATATTTTATATAATATATATTATATATAATATAATATATATTATATATAA TATATATTATATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4927		chr12	TogoVar
MYT1_chr20_64159452_64247253	64174331	C C	CAGCATCT others(390): Show CAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTG TAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAG CATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAG CATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAG CATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCGTCTCCTCCTG CAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAG CATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAG CATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03516.hp2 HG02976.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0091 a0001c0002t0002g0092	2	193	0.0104	397	c.-99 others(414): Show c.-99+9641_-99+9642insTAGCATCTTTCCTAGTTGTGTCCATTTC CCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTC CCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTC CCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTC CCCTCCCTGGCGTCTCCTCCTGCAGCATCTTTCCTAGTTGTGTCCATTTC CCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTC CCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTC CCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTC CCCTCCCTGGCTTCTCCTG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NAV3_chr12_77825894_78218010	77990098	A A	ACCTTGTA others(390): Show ACCTTGTAAATGACTGTGAAACTTCAGGGAAACTGACATGATGAAAGATC ATTTTCTTAAAAAGTTTAAAATGTAAAAGAAGAGTATGAGATGACAGTCA TTAGTTCCTTTAGTAAACTCTTCTAATTTGCTTTTTTCAATCTAAATATT ATTTCGAAAGCCAAATGATTAAATAATCTGGTTTCTGTCTAATAAGTTAT TGCTGATCTCTAGTACTAAATTGTTTTCAAGGAAGTCAATAAAAGATGTT TTGTCTTGGGGAAGATCTATATAAAAACAGAAATTAAAGTGGGCTTAAGT TCTTCATAAACAACTTAACAAATACTAATGACAATTTCTGGGCATTCTTG AATTACATTTCTCAATGATTTTTTAAATCAAAATCTTTGTTCAAAGGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00558.hp1 others(69): Show HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00673.hp2 HG00741.hp1 HG01071.hp1 HG01074.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01884.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02300.hp1 HG02451.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG04184.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18959.hp1 NA18962.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18998.hp2 NA18999.hp1 NA19006.hp2 NA19072.hp2 NA19074.hp2 NA19079.hp1 NA19085.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0014 a0001c0016 a0001c0018 a0001c0020 a0001c0055 a0002c0029 a0002c0031 a0002c0032 a0002c0033 a0003c0015 a0004c0043 a0005c0042 a0008c0028 a0009c0044	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(62): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0039 a0001c0001t0047 a0001c0001t0051 a0001c0001t0059 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0013 a0001c0002t0017 a0001c0002t0018 a0001c0002t0048 a0001c0002t0049 a0001c0002t0052 a0001c0002t0056 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0008 a0001c0003t0041 a0001c0004t0001 a0001c0004t0006 a0001c0004t0010 a0001c0004t0036 a0001c0004t0038 a0001c0004t0050 a0001c0005t0002 a0001c0005t0003 a0001c0005t0006 a0001c0005t0021 a0001c0005t0045 a0001c0005t0053 a0001c0006t0002 a0001c0006t0003 a0001c0006t0007 a0001c0006t0035 a0001c0006t0055 a0001c0007t0010 a0001c0007t0014 a0001c0014t0005 a0001c0014t0014 a0001c0016t0016 a0001c0018t0011 a0001c0018t0024 a0001c0020t0002 a0001c0055t0008 a0002c0029t0029 a0002c0031t0030 a0002c0032t0015 a0002c0033t0015 a0003c0015t0005 a0004c0043t0016 a0005c0042t0022 a0008c0028t0032 a0009c0044t0003	a0001c0001t0001g0048 a0001c0001t0001g0168 a0001c0001t0003g0039 others(69): Show a0001c0001t0001g0048 a0001c0001t0001g0168 a0001c0001t0003g0039 a0001c0001t0003g0071 a0001c0001t0003g0141 a0001c0001t0004g0052 a0001c0001t0005g0149 a0001c0001t0007g0040 a0001c0001t0013g0162 a0001c0001t0017g0166 a0001c0001t0019g0027 a0001c0001t0039g0014 a0001c0001t0047g0160 a0001c0001t0051g0154 a0001c0001t0059g0067 a0001c0002t0002g0185 a0001c0002t0004g0046 a0001c0002t0005g0158 a0001c0002t0007g0103 a0001c0002t0009g0045 a0001c0002t0010g0076 a0001c0002t0013g0002 a0001c0002t0013g0186 a0001c0002t0017g0100 a0001c0002t0018g0056 a0001c0002t0048g0165 a0001c0002t0049g0161 a0001c0002t0052g0164 a0001c0002t0056g0012 a0001c0003t0001g0106 a0001c0003t0002g0102 a0001c0003t0004g0080 a0001c0003t0008g0079 a0001c0003t0041g0043 a0001c0004t0001g0064 a0001c0004t0006g0085 a0001c0004t0010g0063 a0001c0004t0036g0065 a0001c0004t0038g0066 a0001c0004t0050g0152 a0001c0005t0002g0181 a0001c0005t0003g0013 a0001c0005t0006g0088 a0001c0005t0021g0098 a0001c0005t0045g0148 a0001c0005t0053g0184 a0001c0006t0002g0032 a0001c0006t0002g0175 a0001c0006t0003g0051 a0001c0006t0007g0055 a0001c0006t0035g0117 a0001c0006t0055g0169 a0001c0007t0010g0061 a0001c0007t0010g0062 a0001c0007t0014g0153 a0001c0014t0005g0157 a0001c0014t0005g0179 a0001c0014t0014g0167 a0001c0016t0016g0147 a0001c0018t0011g0142 a0001c0018t0024g0034 a0001c0020t0002g0099 a0001c0055t0008g0090 a0002c0029t0029g0004 a0002c0031t0030g0178 a0002c0032t0015g0010 a0002c0033t0015g0001 a0003c0015t0005g0057 a0004c0043t0016g0003 a0005c0042t0022g0159 a0008c0028t0032g0008 a0009c0044t0003g0033	72	184	0.3913	397	c.672 others(414): Show c.672-4705_672-4704insCCTTGTAAATGACTGTGAAACTTCAGGG AAACTGACATGATGAAAGATCATTTTCTTAAAAAGTTTAAAATGTAAAAG AAGAGTATGAGATGACAGTCATTAGTTCCTTTAGTAAACTCTTCTAATTT GCTTTTTTCAATCTAAATATTATTTCGAAAGCCAAATGATTAAATAATCT GGTTTCTGTCTAATAAGTTATTGCTGATCTCTAGTACTAAATTGTTTTCA AGGAAGTCAATAAAAGATGTTTTGTCTTGGGGAAGATCTATATAAAAACA GAAATTAAAGTGGGCTTAAGTTCTTCATAAACAACTTAACAAATACTAAT GACAATTTCTGGGCATTCTTGAATTACATTTCTCAATGATTTTTTAAATC AAAATCTTTGTTCAAAGGC	NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	5/39			chr12	TogoVar
NCAM2_chr21_20993409_21548329	21411142	A A	ACATATAT others(390): Show ACATATATATATATACCTTAGTGAAAAGCTCAGGTTAGATTTAACTTGTT TTGTGTAGTGTGTAGTCTCCTTGAATACTTTAATAAAATACTATAGACAG GATGGTTGAAATCACAGAAATTTGTTCTGAGTTCTGGAGGATAGAGGTTC AATATCATGGTGCCTGCCAGGTTGCTTTCTATAGAGGACTCTTCCCTGGA CTTGTACTTGGCCGCCTTCTTGCTGTGTCCTCACATGCCCTTTCCTCTGT GCGCACACAGAGTTCTAGTGTCTTCCTTTTCTTGTAAGGATACCAGTCCT GTTGGATTAGGTCCCACTCTTATTACCTCGTTTAACCTTAATTACCTTCT TAAAGATCCTATCTCCAAATTCATTCACACCGGAATTTAGGGTTTCAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0002 a0004c0013t0002	a0004c0013t0002g0014 a0004c0013t0002g0014	1	120	0.0083	397	c.138 others(414): Show c.1383+681_1383+682insCATATATATATATACCTTAGTGAAAAGC TCAGGTTAGATTTAACTTGTTTTGTGTAGTGTGTAGTCTCCTTGAATACT TTAATAAAATACTATAGACAGGATGGTTGAAATCACAGAAATTTGTTCTG AGTTCTGGAGGATAGAGGTTCAATATCATGGTGCCTGCCAGGTTGCTTTC TATAGAGGACTCTTCCCTGGACTTGTACTTGGCCGCCTTCTTGCTGTGTC CTCACATGCCCTTTCCTCTGTGCGCACACAGAGTTCTAGTGTCTTCCTTT TCTTGTAAGGATACCAGTCCTGTTGGATTAGGTCCCACTCTTATTACCTC GTTTAACCTTAATTACCTTCTTAAAGATCCTATCTCCAAATTCATTCACA CCGGAATTTAGGGTTTCAG	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	10/17			chr21	TogoVar
NCAM2_chr21_20993409_21548329	21411142	A A	ACATATAT others(390): Show ACATATATATATATACCTTAGTGAAAAGCTCAGGTTAGATTTAACTTGTT TTGTGTAGTGTGTAGTCTCCTTGAATACTTTAATAAAATACTATAGACAG GATGGTTGAAATCACAGAAATTTGTTCTGAGTTCTGGAGGATAGAGGTTC AATATCATGGTGCCTGCCAGGTTGCTTTCTATAGAGGACTCTTCCCTGGA CTTGTACTTGGCCGCCTTCTTGCTGTGTCCTCACATGCCCTTTCCTCTGT GCGCACACAGAGTTCTGGTGTCTTCCTTTTCTTGTAAGGATACCAGTCCT GTTGGATTAGGTCCCACTCTTATTACCTCGTTTAACCTTAATTACCTTCT TAAAGATCCTATCTCCAAATTCATTCACACCGGAATTTAGGGTTTCAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01346.hp1 HG02293.hp1 others(7): Show HG00639.hp2 HG01346.hp1 HG02293.hp1 HG03139.hp2 HG03195.hp2 HG03471.hp2 HG03831.hp1 HG03927.hp2 HG04228.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0022 a0001c0001t0029 a0001c0001t0038 a0001c0004t0007	a0001c0001t0001g0017 a0001c0001t0001g0043 a0001c0001t0002g0072 others(7): Show a0001c0001t0001g0017 a0001c0001t0001g0043 a0001c0001t0002g0072 a0001c0001t0002g0109 a0001c0001t0006g0067 a0001c0001t0011g0035 a0001c0001t0022g0102 a0001c0001t0029g0061 a0001c0001t0038g0053 a0001c0004t0007g0077	10	129	0.0775	397	c.138 others(414): Show c.1383+681_1383+682insCATATATATATATACCTTAGTGAAAAGC TCAGGTTAGATTTAACTTGTTTTGTGTAGTGTGTAGTCTCCTTGAATACT TTAATAAAATACTATAGACAGGATGGTTGAAATCACAGAAATTTGTTCTG AGTTCTGGAGGATAGAGGTTCAATATCATGGTGCCTGCCAGGTTGCTTTC TATAGAGGACTCTTCCCTGGACTTGTACTTGGCCGCCTTCTTGCTGTGTC CTCACATGCCCTTTCCTCTGTGCGCACACAGAGTTCTGGTGTCTTCCTTT TCTTGTAAGGATACCAGTCCTGTTGGATTAGGTCCCACTCTTATTACCTC GTTTAACCTTAATTACCTTCTTAAAGATCCTATCTCCAAATTCATTCACA CCGGAATTTAGGGTTTCAG	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	10/17			chr21	TogoVar
NEU4_chr2_241804193_241822413	241805676	C C	CTCCCTCC others(390): Show CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC TCAACCCAGAGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGAGACCTCCGCAGGC CACCTTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTC CCCCCTCAACCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCTCAGCCC AGGGACGTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0164 a0002c0003t0002g0164	1	306	0.0033	397	c.-36 others(408): Show c.-3602_-3601insTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCTCAACCCAGAGACCTCCGCAGGCCACCCTCCCTCC CCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCA GAGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAACCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAACCCAGGGACGTCTGCAGGCCACCCTC CCTCCCCCTCAGCCCAGGGACGTCCGCAGGCCACCCTCCCTCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTC TGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCTCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3516		chr2	TogoVar
NFATC1_chr18_79390930_79534323	79427386	A A	AGTGGGTA others(390): Show AGTGGGTAGGGGGGAGCTGGACGGCTGGCCTCTGTGCGGTGGGTAGGGGG GAGCTGGACGGCTGGCCTCTGTGCGGTGGGTGGGGGGGAGCTGGACGGCT GGCCTCTGTGCAGTGGGTGGGGGGAGCTGGACGGCTGGCCTCTGTGCAGT GGGTCGGGGGGAGCTGGATGGCTGGCCTCTGTGCAGCGGGTGGGGGAGAG CTGGACAGCTGGCCTCTGTGCGGTGGAGGCTGGACGGCTGGCCTCTGTGC GGTGGGTAGGGGGGAGCTGGACGGCTGGCCTCTGTGCAGTGGGTGGGGGG AGCTGGATGGCTGGCCTCTGTGCGGTGGGTAGGGGGGAGCTGGACGGCTG GCCTCTGTGCAGTGGGTTGGGGGGAGCTGGATGGCTGGCCTCTGTGCG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0265 a0002c0002t0015g0265	1	225	0.0044	397	c.122 others(416): Show c.1227-6187_1227-6186insAGGGGGGAGCTGGACGGCTGGCCTCT GTGCGGTGGGTAGGGGGGAGCTGGACGGCTGGCCTCTGTGCGGTGGGTGG GGGGGAGCTGGACGGCTGGCCTCTGTGCAGTGGGTGGGGGGAGCTGGACG GCTGGCCTCTGTGCAGTGGGTCGGGGGGAGCTGGATGGCTGGCCTCTGTG CAGCGGGTGGGGGAGAGCTGGACAGCTGGCCTCTGTGCGGTGGAGGCTGG ACGGCTGGCCTCTGTGCGGTGGGTAGGGGGGAGCTGGACGGCTGGCCTCT GTGCAGTGGGTGGGGGGAGCTGGATGGCTGGCCTCTGTGCGGTGGGTAGG GGGGAGCTGGACGGCTGGCCTCTGTGCAGTGGGTTGGGGGGAGCTGGATG GCTGGCCTCTGTGCGGTGGGT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC2_chr20_51381963_51547719	51500818	A A	ACCACCCC others(390): Show ACCACCCCCCACCACCCCCACCCTCACCCCCACCCCACCCTCACCCCCAC CCCACCCTCACCCTCACCCCACCCCCACCCTCACCCCCACCCCACCCTCA CCCCCACTACCCCCACCCTCACCCCACCCTCACCCTCACCCCCACCCCAC CCTCACCCTCACCCCCACCCCACCCCCACCCTCACCCCCACTACCCCCAC CCTCACCCCACCCTCACCCTCACCCCACCCTCACCCCCACCCCACCCTCA CCCTCACCCCACCCCCACCCTCACCCCCACCCCACCCTCACCCTCACCCC ACCCTCACCCTCACCCTCACCCCACCCTCACCCTCACCCCCACCCCACCC CCACCCTCACCCTCACCCCCATCCTCACCCTCACCCTCACCCCCACCC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0017 a0001c0001t0010g0017	1	33	0.0303	397	c.133 others(418): Show c.1332+15965_1332+15966insGGGTGGGGGTGAGGGTGAGGGTGA GGATGGGGGTGAGGGTGAGGGTGGGGGTGGGGTGGGGGTGAGGGTGAGGG TGGGGTGAGGGTGAGGGTGAGGGTGGGGTGAGGGTGAGGGTGGGGTGGGG GTGAGGGTGGGGGTGGGGTGAGGGTGAGGGTGGGGTGGGGGTGAGGGTGG GGTGAGGGTGAGGGTGGGGTGAGGGTGGGGGTAGTGGGGGTGAGGGTGGG GGTGGGGTGGGGGTGAGGGTGAGGGTGGGGTGGGGGTGAGGGTGAGGGTG GGGTGAGGGTGGGGGTAGTGGGGGTGAGGGTGGGGTGGGGGTGAGGGTGG GGGTGGGGTGAGGGTGAGGGTGGGGTGGGGGTGAGGGTGGGGTGGGGGTG AGGGTGGGGGTGGTGGGGGGTGG	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	3/10			chr20	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(390): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGTGGGG GGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGGTGAGG GAGTCGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGGTGGGGGTGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	157	0.0064	397	c.91+ others(410): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGG GGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGGTGGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGT GGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTG GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGTGG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NRIP1_chr21_14956235_15070000	15031239	G G	GCACGGAG others(390): Show GCACGGAGGATCACCACATTCCCTTTCTATGTGTATACACTCTGGAAGGC GGTTGGAGGATCACTACCTTCCCCTTCTATGTGTGTACACTCTGGAAGGC GCTCGGAGGATCACCACATTCCCTTTCTATGTGTGTACACTCTGGAAGGC GCTCGGAGGGTCACTACATTCCCTTTCTATGTGTGTACACTCTGGAAGGC ACTCAGAGGATCACCACATTCCCTTTCTATGTGTATACACTCTGGAAGGT GTTCAGAGGTTCACCACATTCCCTTTCTATGTGTATACTCTGGAAGGCGG TTGGAGGTTCACTACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGC ACGGAGGATCACCACATTCCCTTTCTATGTGTGTACACTCTGGAAGGC	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0106 a0001c0001t0004g0106	1	389	0.0026	397	c.-45 others(418): Show c.-458+12255_-458+12256insGCCTTCCAGAGTGTACACACATAG AAAGGGAATGTGGTGATCCTCCGTGCGCCTTCCAGAGTGTATACACATAG AAAGGGAATGTAGTGAACCTCCAACCGCCTTCCAGAGTATACACATAGAA AGGGAATGTGGTGAACCTCTGAACACCTTCCAGAGTGTATACACATAGAA AGGGAATGTGGTGATCCTCTGAGTGCCTTCCAGAGTGTACACACATAGAA AGGGAATGTAGTGACCCTCCGAGCGCCTTCCAGAGTGTACACACATAGAA AGGGAATGTGGTGATCCTCCGAGCGCCTTCCAGAGTGTACACACATAGAA GGGGAAGGTAGTGATCCTCCAACCGCCTTCCAGAGTGTATACACATAGAA AGGGAATGTGGTGATCCTCCGTG	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
PAK2_chr3_196734857_196837647	196811321	T T	TCCTTCCT others(390): Show TCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTC CTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTTC CTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCT CCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTC CTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	62	0.0161	397	c.773 others(412): Show c.773+674_773+675insTTCCCTTCCCTCCCTTCCTTCCCTCCCTTC CTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCC TCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCC CTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTT CCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCC CTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCC TTCCTTCCCTCCCTTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDCD6_chr5_266646_319974	318239	A A	ACCCTGCA others(390): Show ACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCC CTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCT CCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCC ATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCTT CATCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACC CTTACCCTGCACCTCTCCCCATCTTTTACCTCCCCCCACCCTCCATCTCC CCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCCACTCACCCTCCACC TCCCCCCCACCCTGCACCTCCCCCCTCCCCCCTGCACCTCCCGCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0044	1	332	0.0030	397	c.37 others(408): Show c.3724_*3725insCCCTGCACCTCCCCCAATCCTTCACCTCCCCCCT CCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCACCTCCC CCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTAC CTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTC ACCTCCCCCCTCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCAC CCTGCACCTCCCACCCTTACCCTGCACCTCTCCCCATCTTTTACCTCCCC CCACCCTCCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCC CACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCCTCCCCCCTGC ACCTCCCGCCCTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3266		chr5	TogoVar
PDIA2_chr16_278164_292215	285909	C C	CCCAACCC others(390): Show CCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTT CTCCCAACCCCAACCCCGCAGTTCTCCCAACCCCAACCCCGCAGTTCTCC CAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAAC CCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCA ACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCGCGGT TCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTC CCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAA CCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0027 a0003c0027	a0003c0027t0001 a0003c0027t0001	a0003c0027t0001g0117 a0003c0027t0001g0117	1	417	0.0024	397	c.111 others(414): Show c.1119+214_1119+215insAACCCCAACCCCAACCCCGCGGTTCTCC CAACCCCGCGGTTCTCCCAACCCCAACCCCGCAGTTCTCCCAACCCCAAC CCCGCAGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTC TCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCC AACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTC CCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAA CCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCC GCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCC CAACCCCAACACCAACCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(390): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA AGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAGGAAAGA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0079 a0002c0079	a0002c0079t0007 a0002c0079t0007	a0002c0079t0007g0089 a0002c0079t0007g0089	1	41	0.0244	397	c.575 others(418): Show c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCT CCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCCCTCCTT CCTTCCTTCCTTCCTTCCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989907	G G	GGAAGGAA others(390): Show GGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGAAGGA AGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0036 a0036	a0036c0051 a0036c0051	a0036c0051t0004 a0036c0051t0004	a0036c0051t0004g0055 a0036c0051t0004g0055	1	125	0.0080	397	c.575 others(418): Show c.5751+20401_5751+20402insTTTCCTTCCTTTCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTC CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCC CTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCC CTCCTTCCTTCCTTCCTTCCTTC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKP3_chr11_389209_409908	401950	C C	CCCGCTCA others(390): Show CCCGCTCACACCCGACCCGCTCACACCCGACCGGCTCACCCCCGACCCGC TCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCACC CCGGACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACACC CGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCC CCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGC TCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCGGCCCCG CTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCA CACCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGGGCCCCGCTCA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0019 a0019	a0019c0032 a0019c0032	a0019c0032t0001 a0019c0032t0001	a0019c0032t0001g0144 a0019c0032t0001g0144	1	183	0.0055	397	c.173 others(416): Show c.1738-1126_1738-1125insGCTCACACCCGACCCGCTCACACCCG ACCGGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCAGCCCCG CTCACCCCCGACCCGCTCACCCCGGACCCCGCTCACACCGGACCCCGCTC ACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCC CCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCCGG CCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGGCCCC GCTCACCCCGGCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCC GCTCACCCGGGACCCCGCTCACACCCGCCCCGCTCACCCCGGACCCCGCT CACCCCCGGGCCCCGCTCACC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLEKHN1_chr1_961482_980865	977466	G G	GCTCCCCC others(390): Show GCTCCCCCCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGG AACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACGACCCCC AATCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGAGAACCGCCTCC CACGACCCCCAATCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGG AACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCTCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0005 a0001c0011t0005	a0001c0011t0005g0009 a0001c0011t0005g0009	1	107	0.0093	397	c.28 others(408): Show c.2891_*2892insCTCCCCCCGCAACCCCGGGAACCGCCTGCCCCCA CCGACCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCG CCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACCACCCCGCCAACC CCGAGAACCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACTCC CCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCCA ACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGG GAACCGCCTCCCA	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1602		chr1	TogoVar
PRKG1_chr10_51069487_52303350	51449643	A A	AACAGCAT others(390): Show AACAGCATATCATATATATATATATATATATATATATATATATATATATA TATTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGATGGAGTCTCGCTCTGT CACCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCTGC CTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTTGTAT TATAGGCACCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACTGTGTTGCCAGGCTGGTCTCAAACTCCTGGCCTAGTGA TCCGCCCACCTCGACCTCCCAAAGTGTTGGGATTACAAGCGTGAGCCACC GTGCCCAGCCAGCATATCATATTTATATTCTGAATTTTCACATATTAG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	20	0.0500	397	c.479 others(416): Show c.479-18077_479-18076insGCATATCATATATATATATATATATA TATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTA AAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCGTGATCT CGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCA GCCTCCCGAGTAGCTTGTATTATAGGCACCCGCCACCATGCCCAGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGCCAGGCTGGTC TCAAACTCCTGGCCTAGTGATCCGCCCACCTCGACCTCCCAAAGTGTTGG GATTACAAGCGTGAGCCACCGTGCCCAGCCAGCATATCATATTTATATTC TGAATTTTCACATATTAGACA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51449643	A A	AACAGCAT others(390): Show AACAGCATATCATATATATATATATATATATATATATATATATATATTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGATGGAGTCTCGCTCTGT CACCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCTGC CTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTTGTAT TATAGGCACCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACTGTGTTGCCAGGCTGGTCTCAAACTCCTGGCCTAGTGA TCCGCCCACCTCGACCTCCCAAAGTGTTGGGATTACAAGCGTGAGCCACC GTGCCCAGCCAGCATATCATATTTATATTCTGAATTTTCACATATTAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	20	0.0500	397	c.479 others(416): Show c.479-18077_479-18076insGCATATCATATATATATATATATATA TATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTA AAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCGTGATCT CGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCA GCCTCCCGAGTAGCTTGTATTATAGGCACCCGCCACCATGCCCAGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGCCAGGCTGGTC TCAAACTCCTGGCCTAGTGATCCGCCCACCTCGACCTCCCAAAGTGTTGG GATTACAAGCGTGAGCCACCGTGCCCAGCCAGCATATCATATTTATATTC TGAATTTTCACATATTAGACA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
RAB11FIP3_chr16_420649_528011	468296	G G	GGGAGGAG others(390): Show GGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGAAGTCAGGGAGG AGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGC AGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGAA GTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGATGCTGGGACGTCAGG GAGGAGGTCCTTGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAG GTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTG GGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGG CGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0022 a0004c0007t0022	a0004c0007t0022g0067 a0004c0007t0022g0067	1	294	0.0034	397	c.809 others(414): Show c.809-2991_809-2990insTGCTGGGGCGTCAGGGAGGAGGTGCAGG GAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTC AGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAG GAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGATG CTGGGACGTCAGGGAGGAGGTCCTTGGGCGTCAGGGAGGAGGTGCTGGGG CGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAG GGAGGAGGTGCTGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGA GGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGT GCAGGGGCGTCGGAGGAGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RFC1_chr4_39282456_39371362	39348428	A A	AAAAGGAA others(390): Show AAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG GAAAGGAAAGGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAA AAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAA GGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGG AAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAA AGGAAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0065 a0001c0003t0001g0065	1	264	0.0038	397	c.132 others(414): Show c.132+2919_132+2920insCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTTCCTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTT TTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTT CCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCC TTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTT TTCCTTTTCCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RNF139_chr8_124469880_124493618	124483108	T T	TATTATTT others(390): Show TATTATTTAAATATATATATATTTAAAAATATATATATTAAAAATATATA TATTTAAATATATATATTTTTAAATATGTATATTTAAATTATATAATTTA AATATATATTAATATACATATTTTAATATATATAATTTAAATATATATAT TTAAATATATATTAATATATATATTTAAAGATATATATTAAATTATATAT ATTAAAATATGTATATTAATATATATTTAAATTATATAATTTAAATATAC ATATTTAAAAATATATATATTTAAATATATATATTTTTAATATATATATT TTTAAATATATATATTTATATATATATTTTTATATATATATTTATATATA TATTTATATATATATATATTTATATATATATTTTTAAATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	364	0.0027	397	c.182 others(414): Show c.182-2723_182-2722insATTATTTAAATATATATATATTTAAAAA TATATATATTAAAAATATATATATTTAAATATATATATTTTTAAATATGT ATATTTAAATTATATAATTTAAATATATATTAATATACATATTTTAATAT ATATAATTTAAATATATATATTTAAATATATATTAATATATATATTTAAA GATATATATTAAATTATATATATTAAAATATGTATATTAATATATATTTA AATTATATAATTTAAATATACATATTTAAAAATATATATATTTAAATATA TATATTTTTAATATATATATTTTTAAATATATATATTTATATATATATTT TTATATATATATTTATATATATATTTATATATATATATATTTATATATAT ATTTTTAAATATATATATA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1			chr8	TogoVar
RNF139_chr8_124469880_124493618	124483108	T T	TATTATTT others(390): Show TATTATTTAAATATATATATATTTAAAAATATATATATTAAAAATATATA TATTTAAATATATATATTTTTAAATATGTATATTTAAATTATATAATTTA AATATATATTAATATACATATTTTAATATATATAATTTAAATATATATAT TTAAATATATATTAATATATATATTTAAAGATATATATTAAATTATATAT ATTAAAATATGTATATTAATATATATTTAAATTATATAATTTAAATATAC ATATTTAAAAATATATATATTTAAATATATATATTTTTAATATATATATT TTTAAATATATATATTTATATATATATTTTTATATATATATTTATATATA TATTTTTATATATATATATTTATATATATATTTTTAAATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	364	0.0027	397	c.182 others(414): Show c.182-2723_182-2722insATTATTTAAATATATATATATTTAAAAA TATATATATTAAAAATATATATATTTAAATATATATATTTTTAAATATGT ATATTTAAATTATATAATTTAAATATATATTAATATACATATTTTAATAT ATATAATTTAAATATATATATTTAAATATATATTAATATATATATTTAAA GATATATATTAAATTATATATATTAAAATATGTATATTAATATATATTTA AATTATATAATTTAAATATACATATTTAAAAATATATATATTTAAATATA TATATTTTTAATATATATATTTTTAAATATATATATTTATATATATATTT TTATATATATATTTATATATATATTTTTATATATATATATTTATATATAT ATTTTTAAATATATATATA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1			chr8	TogoVar
RTN1_chr14_59590983_59875776	59750664	T T	TATATCTA others(390): Show TATATCTATAATATATATATTATATCTATAATATATAATATATCTATAAT ATATAATATATCTATAATATATATATTATATATATAATATATAATATATT ATATATATAATATATAATATATTATATATATAATATATAATATATTATAT CTATAATATATTATATGTAATATATATATGTTATATCTATAATATATATT ATATCTATAATATATAATATATTATATCTATAATATATAATATATTATAT CTATAATATATAATATATTATATCTATAATATATAATATATTATATCTAT AAATATAATATATTATATCTATAATATATAATATATTATATCTATATATA TAATATATATATTATATCTATAATATATATATTATATCTATAAATATA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	82	0.0122	397	c.242 others(414): Show c.242-4184_242-4183insTATATTTATAGATATAATATATATATTA TAGATATAATATATATATTATATATATAGATATAATATATTATATATTAT AGATATAATATATTATATTTATAGATATAATATATTATATATTATAGATA TAATATATTATATATTATAGATATAATATATTATATATTATAGATATAAT ATATTATATATTATAGATATAATATATATTATAGATATAACATATATATA TTACATATAATATATTATAGATATAATATATTATATATTATATATATAAT ATATTATATATTATATATATAATATATTATATATTATATATATAATATAT ATATTATAGATATATTATATATTATAGATATATTATATATTATAGATATA ATATATATATTATAGATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TATAACAT others(390): Show TATAACATATAATATATAATATATATTATATATAATATATTATATATAAT ATATTATATATAATATATAATATATATTATATGTTATATATAATATATAT TATATGTTATATATAATATATATTTATATGTTATATATAATATATATTAT ATATTATATATAATATATAATATATATTACATATAATATATAATATATAA TATATATTATATATTATATATTATATATTATATATAATATATTTATATAT TATATATAATATATAAATATATTATATATAATATATAATATATAAATATA TATTATATATTATATATAATATATAAATATATATTATATATATTTATATA TATTTTATATATAAATATATATTATATATATAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0042	1	29	0.0345	397	c.193 others(416): Show c.193-29585_193-29584insTATATAAAATATATATTATATATATA ATATATATTTATATATAAAATATATATAAATATATATAATATATATTTAT ATATTATATATAATATATAATATATATTTATATATTATATATTATATATA ATATATTTATATATTATATATAATATATAAATATATTATATATAATATAT AATATATAATATATAATATATATTATATATTATATATTATATGTAATATA TATTATATATTATATATAATATATAATATATATTATATATAACATATAAA TATATATTATATATAACATATAATATATATTATATATAACATATAATATA TATTATATATTATATATAATATATTATATATAATATATTATATATAATAT ATATTATATATTATATGTTAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SARDH_chr9_133658560_133743352	133669269	C C	CTCTCTCC others(390): Show CTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCC CTCACCCTCCATCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCC CTCATCCTCCCTCACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCTT CCCTCTCCCTTACCCTCCATCTCCCTCACCCTCCCTCTCCCCTTACCCTC CCTCTCCCTCACCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCCTCCC TCTCCCTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCTTACCCTCCATC TCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCTCACCTTCCCTCT CCCTTACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCTTCCCTCT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0061 a0002c0008t0002g0061	1	256	0.0039	397	c.249 others(416): Show c.2495+1314_2495+1315insAGAGGGAAGGTGAGGGAGAGGGAGGG TGAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTA AGGGGAGAGGGAGGGTGAGGGAGATGGAGGGTAAGGGAGAGGGAAGGTGA GGGAGAGGGAAGGTGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTAAGG GAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGGAGAGGGAGGGTGAGGG AGATGGAGGGTAAGGGAGAGGGAAGGTGAGGGAGAGGGAAGGTGAGGGAG AGGGAGGGTGAGGGAGGATGAGGGGAGAGGGAGGGTAAGGGGAGAGGGAG GGTGAGGGAGATGGAGGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGG TAAGGGAGAGGGAAGGAGAGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SIGIRR_chr11_400716_419999	401950	C C	CCCGCTCA others(390): Show CCCGCTCACACCCGACCCGCTCACACCCGACCGGCTCACCCCCGACCCGC TCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCACC CCGGACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACACC CGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCC CCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGC TCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCGGCCCCG CTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCA CACCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGGGCCCCGCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0071 a0005c0009t0001g0071	1	201	0.0050	397	c.39 others(408): Show c.3945_*3946insTGAGCGGGGCCCGGGGGTGAGCGGGGTCCGGGGT GAGCGGGGCGGGTGTGAGCGGGGTCCCGGGTGAGCGGGGCGGGTGTGAGC GGGGCCGGGGTGAGCGGGGCCGGGCCGGGGTGAGCGGGGCCGGGGGTGAG CGGGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGG GCGGGTGTGAGCGGGGCCCGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGG GGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGTCCGGTG TGAGCGGGGTCCGGGGTGAGCGGGTCGGGGGTGAGCGGGGCTGGGGTGAG CGGGTCGGGGGTGAGCGGGTCGGGGGTGAGCCGGTCGGGTGTGAGCGGGT CGGGTGTGAGCGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3765		chr11	TogoVar
SLC25A21_chr14_36672921_37177606	36789846	A A	ATTTAATA others(390): Show ATTTAATATTATATATATTTATATATATTTATATATATATTTATATATAT TTATATATTTATATATATTTATATATATATTTATATATATTTATATATTT ATATATATTTATATATATATTTATATATATTTATATATTTATATATATTT ATATATAATATATTTTTATTATATATATATTATATATATAATATATATAA ATATATTATATATATATATATTATATATATAATATATTTATATATATTAT ATATTATATATATAATATATTTATATATATATATATATTATATATATAAT ATATTTATATATATTTATATATTTATATATAATATATTTTTATATATTTT TATATAAATTTATATATATATTTTATATATATTTATATATAAATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0021 a0001c0001t0021g0021	1	138	0.0072	397	c.203 others(416): Show c.203+24071_203+24072insATATATTTATATATAAATATATATAA AATATATATATAAATTTATATAAAAATATATAAAAATATATTATATATAA ATATATAAATATATATAAATATATTATATATATAATATATATATATATAT AAATATATTATATATATAATATATAATATATATAAATATATTATATATAT AATATATATATATATAATATATTTATATATATTATATATATAATATATAT ATAATAAAAATATATTATATATAAATATATATAAATATATAAATATATAT AAATATATATATAAATATATATAAATATATAAATATATATAAATATATAT ATAAATATATATAAATATATAAATATATATAAATATATATATAAATATAT ATAAATATATATAATATTAAA	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLX9_chr21_44935029_44981973	44981816	G G	GGGGCCCT others(390): Show GGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGACAGCGGGG CCTGGACGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGGGGGGACA GCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGA GGGGACAGCGGGGCCTGGACGGGCCCTGCACACAGAGCCTGCGTGTGGTG TTCAGGGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCG TGTGGTGTTCAGAGGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAG AGCCTGCGTGTGGTGTTCAGGGGGGACAGCGGGGCCTGGACGGGGCCCTG CACACAGAGCCTGCGTGTGGTGTTCAGAGGGGACAGCGGGGCCTGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	328	0.0030	397	c.50 others(408): Show c.5013_*5014insGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCA GAGGGGACAGCGGGGCCTGGACGGGCCCTGCACACAGAGCCTGCGTGTGG TGTTCAGGGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTG CGTGTGGTGTTCAGAGGGGACAGCGGGGCCTGGACGGGCCCTGCACACAG AGCCTGCGTGTGGTGTTCAGGGGGGACAGCGGGGCCTGGACGGGGCCCTG CACACAGAGCCTGCGTGTGGTGTTCAGAGGGGGACAGCGGGGCCTGGACG GGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGGGGGGACAGCGGGGC CTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGACA GCGGGGCCTGGAC	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		4844		chr21	TogoVar

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