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
NLRP13_chr19_55890945_55937336	55931710	A A	AAAGAAAG others(172): Show AAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGACAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAA AGACAGAAAGAAAGACAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0056 a0002c0003t0001g0056	1	440	0.0023	179	c.319 others(194): Show c.319+282_319+283insCTTTCTTTCTTTCTGTCTTTCTTTCTGTCT TTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTGTCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTT	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP13_chr19_55890945_55937336	55931710	A A	AAAGAAAG others(172): Show AAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGACAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAA AGACAGAAAGAAAGACAGAAAGAAAGACAG	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA19000.hp1 NA18961.hp2 NA19000.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0019 a0002c0003t0001g0020	2	440	0.0046	179	c.319 others(194): Show c.319+282_319+283insCTGTCTTTCTTTCTGTCTTTCTTTCTGTCT TTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTGTCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTT	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP13_chr19_55890945_55937336	55931710	A A	AAAGAAAG others(172): Show AAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGACAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG ACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGAC AGAAAGAAAGACAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0070 a0002c0003t0001g0070	1	440	0.0023	179	c.319 others(194): Show c.319+282_319+283insCTTTCTTTCTTTCTTTCTGTCTTTCTTTCT GTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTGTCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTT	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP13_chr19_55890945_55937336	55931710	A A	AAAGAAAG others(172): Show AAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGACAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGACAGAAAGAAAGACAG AAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAA AGAAAGACAGAAAGAAAGACAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0017 a0017	a0017c0038 a0017c0038	a0017c0038t0001 a0017c0038t0001	a0017c0038t0001g0175 a0017c0038t0001g0175	1	440	0.0023	179	c.319 others(194): Show c.319+282_319+283insCTTTCTTTCTGTCTTTCTTTCTGTCTTTCT TTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTT CTGTCTTTCTTTCTGTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTGTCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTT	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP13_chr19_55890945_55937336	55931710	A A	AAAGAAAG others(172): Show AAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGACAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGACAGAAAGAAAGACAGAAAG AAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAA AGACAGAAAGAAAGACAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0037 a0002c0003t0001g0037	1	440	0.0023	179	c.319 others(194): Show c.319+282_319+283insCTTTCTTTCTTTCTGTCTTTCTTTCTGTCT TTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTT CTTTCTGTCTTTCTTTCTGTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTGTCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTT	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP13_chr19_55890945_55937336	55931710	A A	AAAGAAAG others(172): Show AAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGACAGAAAGAAAGAAAGAA AGACAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAA AGACAGAAAGAAAGACAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0043 a0002c0003t0001g0043	1	440	0.0023	179	c.319 others(194): Show c.319+282_319+283insCTTTCTTTCTTTCTGTCTTTCTTTCTGTCT TTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTGTCT TTCTTTCTTTCTTTCTGTCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTT	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP13_chr19_55890945_55937336	55931716	A A	AGAAAGAC others(172): Show AGAAAGACAGAAAGAAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAA AGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAG AAAGACAGAAAGAAAGACAGAAAGAAAGAC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0111 a0002c0007t0001g0111	1	440	0.0023	179	c.319 others(194): Show c.319+276_319+277insGTCTTTCTTTCTGTCTTTCTTTCTGTCTTT CTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCT TTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTTTCTTTCTGTCTTTC	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NOD1_chr7_30419527_30483784	30471102	G G	GCCACCTA others(172): Show GCCACCTATTTTAGAGATGGGAAAACAGAGGCCCTGGGCAGGGCCCTGGA CTTGTCCGGATCAATCAAAACTAGCATCCAAGTCTCCTGGCTGCGAGACA GTTGCTTCTTTTGTCTACTTCTGGCCAGAGTAGCCTCCTCAGTAGCCAAA CATTTCCTCCATCCCCCCAGCGGGGATGTC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02647.hp1 HG02976.hp2 others(2): Show HG01978.hp1 HG02647.hp1 HG02976.hp2 HG03471.hp1 HG03471.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0006 a0004c0006t0001 a0004c0006t0006	a0004c0006t0001g0187 a0004c0006t0001g0188 a0004c0006t0006g0185 others(2): Show a0004c0006t0001g0187 a0004c0006t0001g0188 a0004c0006t0006g0185 a0004c0006t0006g0186 a0004c0006t0006g0269	5	358	0.0140	179	c.-35 others(198): Show c.-352+7503_-352+7504insGACATCCCCGCTGGGGGGATGGAGGA AATGTTTGGCTACTGAGGAGGCTACTCTGGCCAGAAGTAGACAAAAGAAG CAACTGTCTCGCAGCCAGGAGACTTGGATGCTAGTTTTGATTGATCCGGA CAAGTCCAGGGCCCTGCCCAGGGCCTCTGTTTTCCCATCTCTAAAATAGG TGG	NOD1	ENSG00000106100.11	transcript	ENST00000222823.9	protein_coding	1/13			chr7	TogoVar
NPBWR2_chr20_64098802_64112565	64105725	G G	GATGATGG others(172): Show GATGATGGGGGTGATGGTGGGGGTGGTGGTGGGGGTGGGGGTGATGGTGG GCGTGATGGTGGGGGTGATGGGGGTGGGCGTGATGGTGGATGTGATGGGG GTGGGCATGATGATGGGCATGATGATGGGCGTGATGATGGGGGTGATGGT GGGGGTGGTGGTGGGCGTGATGATGGGGGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0107 a0001c0001t0072g0107	1	355	0.0028	179	c.10 others(188): Show c.104_*105insACCCCCATCATCACGCCCACCACCACCCCCACCATC ACCCCCATCATCACGCCCATCATCATGCCCATCATCATGCCCACCCCCAT CACATCCACCATCACGCCCACCCCCATCACCCCCACCATCACGCCCACCA TCACCCCCACCCCCACCACCACCCCCACCATCACCCCCATCAT	NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2	104		chr20	TogoVar
NPBWR2_chr20_64098802_64112565	64105725	G G	GATGATGG others(172): Show GATGATGGGGGTGATGGTGGGGGTGGTGGTGGGGGTGGGGGTGATGGTGG GGGTGGGGGTGGGGGTGATGGGGGTGGGCGTGATGGTGGATGTGATGGGG GTGGGCATGATGATGGGCGTGATGATGGGGGTGGTGGTGGGGGTGATGGT GGGGGTGGTGGTGGGCGTGATGATGGGGGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01106.hp1 HG01123.hp1 HG02004.hp1 others(2): Show HG01106.hp1 HG01123.hp1 HG02004.hp1 HG04184.hp2 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0011 a0001c0005t0011 a0001c0002t0011 a0001c0005t0011	a0001c0002t0011g0015 a0001c0005t0011g0129 a0001c0002t0011g0015 a0001c0005t0011g0129	5	355	0.0141	179	c.10 others(188): Show c.104_*105insACCCCCATCATCACGCCCACCACCACCCCCACCATC ACCCCCACCACCACCCCCATCATCACGCCCATCATCATGCCCACCCCCAT CACATCCACCATCACGCCCACCCCCATCACCCCCACCCCCACCCCCACCA TCACCCCCACCCCCACCACCACCCCCACCATCACCCCCATCAT	NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2	104		chr20	TogoVar
NPIPA8_chr16_18312919_18341736	18341433	G G	GGGAGGGG others(172): Show GGGAGGGGGATGAGGATGGGAATTGGGGGAGCGGGATGAGGATGGGAATT GGGGGAGGGGGATGAGGATGGGAATTGGGGGAGCGGGATGAGGATGGGAA TTGGGGGAGGGGGATAAGGATGGGAATTGGGGGAGCGGGATGAGGATGGG AATTGGGGGAGCGGGATGAGGATGGGAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0032 a0002c0005t0004g0032	1	40	0.0250	179	c.-51 others(190): Show c.-5127_-5126insAATTCCCATCCTCATCCCGCTCCCCCAATTCCCA TCCTCATCCCGCTCCCCCAATTCCCATCCTTATCCCCCTCCCCCAATTCC CATCCTCATCCCGCTCCCCCAATTCCCATCCTCATCCCCCTCCCCCAATT CCCATCCTCATCCCGCTCCCCCAATTCCCATCCTCATCCCCCTCC	NPIPA8	ENSG00000214940.9	transcript	ENST00000525596.6	protein_coding		4698		chr16	TogoVar
NR5A2_chr1_200022710_200182415	200107812	T T	TTTTTTTT others(172): Show TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCA CTACGCCCGGCTAATTTTTTGTATTTTTAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0064 a0001c0003t0009g0064	1	286	0.0035	179	c.111 others(198): Show c.1111-3390_1111-3389insTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAG	NR5A2	ENSG00000116833.14	transcript	ENST00000367362.8	protein_coding	5/7			chr1	TogoVar
NT5C2_chr10_103083038_103198272	103129541	C C	CCGCCCGG others(172): Show CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC CTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC TGCCCCTACTGGGAAGTGAGGAGCCCCTCT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0324 a0001c0002t0005g0324	1	340	0.0029	179	c.175 others(196): Show c.175+9864_175+9865insAGAGGGGCTCCTCACTTCCCAGTAGGGG CAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC AGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC G	NT5C2	ENSG00000076685.19	transcript	ENST00000404739.8	protein_coding	4/18			chr10	TogoVar
NT5C2_chr10_103083038_103198272	103129541	C C	CGCCCGGC others(172): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC CTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC TGCCCCTACTGGGAAGTGAGGAGCCCCTCT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01952.hp2 HG00673.hp1 HG01952.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0005 a0002c0003t0004 a0001c0002t0005 a0002c0003t0004	a0001c0002t0005g0325 a0002c0003t0004g0234 a0001c0002t0005g0325 a0002c0003t0004g0234	2	340	0.0059	179	c.175 others(196): Show c.175+9864_175+9865insAGAGGGGCTCCTCACTTCCCAGTAGGGG CAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC AGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG C	NT5C2	ENSG00000076685.19	transcript	ENST00000404739.8	protein_coding	4/18			chr10	TogoVar
NT5C2_chr10_103083038_103198272	103129541	C C	CGCCCGGC others(172): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCC CTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC TGCCCCTACTGGGAAGTGAGGAGCCCCTCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02647.hp2 HG03831.hp1 HG02055.hp2 HG02647.hp2 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006	a0001c0002t0004g0022 a0001c0002t0005g0335 a0001c0002t0006g0200 a0001c0002t0004g0022 a0001c0002t0005g0335 a0001c0002t0006g0200	3	340	0.0088	179	c.175 others(196): Show c.175+9864_175+9865insAGAGGGGCTCCTCACTTCCCAGTAGGGG CAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC AGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG C	NT5C2	ENSG00000076685.19	transcript	ENST00000404739.8	protein_coding	4/18			chr10	TogoVar
NT5C2_chr10_103083038_103198272	103129541	C C	CTGCCCGG others(172): Show CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC CTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC TGCCCCTACTGGGAAGTGAGGAGCCCCTCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01255.hp2 HG00642.hp1 HG01255.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0225 a0002c0003t0004g0232 a0002c0003t0004g0225 a0002c0003t0004g0232	2	340	0.0059	179	c.175 others(196): Show c.175+9864_175+9865insAGAGGGGCTCCTCACTTCCCAGTAGGGG CAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC AGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC A	NT5C2	ENSG00000076685.19	transcript	ENST00000404739.8	protein_coding	4/18			chr10	TogoVar
NT5C2_chr10_103083038_103198272	103129547	G G	GCCAGCCG others(172): Show GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGC	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0009 a0002c0003t0004g0009	1	340	0.0029	179	c.175 others(196): Show c.175+9858_175+9859insGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTG G	NT5C2	ENSG00000076685.19	transcript	ENST00000404739.8	protein_coding	4/18			chr10	TogoVar
NT5C2_chr10_103083038_103198272	103129622	T T	TGGGGGGG others(172): Show TGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0013 a0001c0002t0015g0013	1	340	0.0029	179	c.175 others(196): Show c.175+9783_175+9784insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCC C	NT5C2	ENSG00000076685.19	transcript	ENST00000404739.8	protein_coding	4/18			chr10	TogoVar
NUP93_chr16_56725129_56855286	56739654	C C	CGGCTGGC others(172): Show CGGCTGGCCGGGCAGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGG GCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGA CAGAGGCGCCCCTCACCTCCCAGACGGGGT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0194 a0001c0001t0007g0194	1	378	0.0027	179	c.-14 others(196): Show c.-14-8568_-14-8567insAGGGGGCCGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGATCCCCCCCACCTCCCTC CCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGACAGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGG C	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUSAP1_chr15_41327881_41386046	41383298	T T	TGCCCCTA others(172): Show TGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCTGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	292	0.0034	179	c.31 others(190): Show c.3112_*3113insGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCTGCCC GGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGCC	NUSAP1	ENSG00000137804.14	transcript	ENST00000559596.6	protein_coding		2253		chr15	TogoVar
NUTM2F_chr9_94313198_94333644	94313262	T T	TATAATAT others(172): Show TATAATATATATTATATATATATTATATATATTATATAATATATAATATA ATATTATATAATATTAGTAATATAATATATTATTATCATAATATATTATA TAATATAATATATATTATATAATATATAATATAATATATATTATATAATA TATAATATAATATATATTATATAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	322	0.0031	179	c.52 others(190): Show c.5202_*5203insTATATATTATATAATATATATTATATTATATATT ATATAATATATATTATATTATATATTATATAATATATATTATATTATATA ATATATTATGATAATAATATATTATATTACTAATATTATATAATATTATA TTATATATTATATAATATATATAATATATATATAATATATATTAT	NUTM2F	ENSG00000130950.15	transcript	ENST00000253262.9	protein_coding		4935		chr9	TogoVar
NWD1_chr19_16714847_16822953	16737964	C C	CAAAAGAA others(172): Show CAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0039 a0039	a0039c0052 a0039c0052	a0039c0052t0001 a0039c0052t0001	a0039c0052t0001g0254 a0039c0052t0001g0254	1	300	0.0033	179	c.198 others(196): Show c.198+1214_198+1215insAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA A	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	4/18			chr19	TogoVar
NXN_chr17_794310_984776	949221	G G	GTGGCCTC others(172): Show GTGGCCTCCTCCTCTCCCCCTGCCTCCCTCCTCTCCCCCCTGCCTCCTCC TCTCCCCCGTGGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCCTG CCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCTCCCCCCCTGCCCTCCTC CTCTCCCCCGCGGCCTCCTCCTCTCCCCCC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0091 a0001c0001t0028g0091	1	242	0.0041	179	c.360 others(198): Show c.360+30097_360+30098insGGGGGGAGAGGAGGAGGCCGCGGGGG AGAGGAGGAGGGCAGGGGGGGAGGAGAGGAGGAGGCCGCGGGGAGAGGAG GAGGCAGGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCCACGGGG GAGAGGAGGAGGCAGGGGGGAGAGGAGGGAGGCAGGGGGAGAGGAGGAGG CCA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OBI1_chr13_78609289_78664155	78659308	A A	AGAAAGAA others(172): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAGAAGGAA GGAAGGAAGGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	296	0.0034	179	c.-18 others(188): Show c.-189_-188insCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTT CTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		154		chr13	TogoVar
OMP_chr11_77097840_77108331	77098068	C C	CTCCCGGA others(172): Show CTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGGCTGACCCCCCCCACCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(217): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19063.hp1 NA19064.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0003c0004 a0007c0007	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0003c0004t0001 a0007c0007t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0005t0001g0000 others(2): Show a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0005t0001g0000 a0003c0004t0001g0000 a0007c0007t0001g0000	220	440	0.5000	179	c.-47 others(190): Show c.-4772_-4771insTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCT	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4771		chr11	TogoVar
OMP_chr11_77097840_77108331	77098068	C C	CTCCCGGA others(172): Show CTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGGCTGACCTCCCCCACCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp2 NA19000.hp1 NA18959.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	440	0.0046	179	c.-47 others(190): Show c.-4772_-4771insTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCTCCCCCACCTCCT	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4771		chr11	TogoVar
OMP_chr11_77097840_77108331	77098068	C C	CTCCCGGA others(172): Show CTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCC GGGCGGGGGGGCTGACCCCCCCCACCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG06807.hp2 HG03453.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	440	0.0046	179	c.-47 others(190): Show c.-4772_-4771insTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCT	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4771		chr11	TogoVar
OMP_chr11_77097840_77108331	77098068	C C	CTCCCGGA others(172): Show CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGGCTGACCCCCCCCACCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	440	0.0023	179	c.-47 others(190): Show c.-4772_-4771insTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCT	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4771		chr11	TogoVar
OR4F5_chr1_60419_76585	66249	A A	ATATATAA others(172): Show ATATATAATATATATATATTATATATATTATATATATTATATATATAATA TATATAATATATATAATATAATATATTTTATATATATATAATATATTATA TAATATAATATATATATTATATATATAATATATATATAATATAATATAAT ATAATATATTATATTATATAATATATATTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18939.hp1 NA18956.hp2 others(4): Show HG00544.hp1 NA18939.hp1 NA18956.hp2 NA19011.hp2 NA19062.hp1 NA19070.hp1 NA19085.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0014 a0003c0007t0003 a0001c0001t0014 a0003c0007t0003	a0001c0001t0014g0049 a0003c0007t0003g0007 a0001c0001t0014g0049 a0003c0007t0003g0007	7	215	0.0326	179	c.9+6 others(190): Show c.9+678_9+679insTATAATATATATATATTATATATATTATATATAT TATATATATAATATATATAATATATATAATATAATATATTTTATATATAT ATAATATATTATATAATATAATATATATATTATATATATAATATATATAT AATATAATATAATATAATATATTATATTATATAATATATATTTTA	OR4F5	ENSG00000186092.7	transcript	ENST00000641515.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
OR52N2_chr11_5803924_5826483	5812330	T T	TAAAAATA others(172): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03654.hp2 HG01081.hp1 HG03654.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0027 a0004c0005t0006g0027	2	402	0.0050	179	c.-55 others(196): Show c.-55+3281_-55+3282insTACAAAAAATTAGCCGGGCGTAGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA A	OR52N2	ENSG00000180988.3	transcript	ENST00000317037.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr11	TogoVar
OR6J1_chr14_22625929_22649352	22637460	C C	CGCCTCTG others(172): Show CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGGGGGAGGGGGGGGTCAGCCCCCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0230 a0002c0002t0002g0230	1	362	0.0028	179	c.-27 others(196): Show c.-27-2623_-27-2622insACCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGGGGGCTGACCCCCCCCTCCCCCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG C	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637460	C C	CGCCTCTG others(172): Show CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG GCCAGCCGCCCCGTCCGGGAGGGGGGAGGGGGGGGTCAGCCCCCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0047 a0002c0002t0047	a0002c0002t0047g0211 a0002c0002t0047g0211	1	362	0.0028	179	c.-27 others(196): Show c.-27-2623_-27-2622insACCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGGGGGCTGACCCCCCCCTCCCCCCTCCCGGACGGGGCGGCTG GCCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG C	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637535	A A	AGGGGGGG others(172): Show AGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGGGGAG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0068 a0002c0002t0002g0068	1	362	0.0028	179	c.-27 others(196): Show c.-27-2698_-27-2697insCTCCCCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCAC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCAC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCC C	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637535	A A	AGGGGGGG others(172): Show AGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGGGGGAG	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0074 a0002c0002t0002g0074	1	362	0.0028	179	c.-27 others(196): Show c.-27-2698_-27-2697insCTCCCCCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCA CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCA CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCC C	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OSBPL10_chr3_31655825_31986262	31857789	G G	GAGAGACA others(172): Show GAGAGACAAGGAGGTGGGGGAGAGGGGGGGAGAGACGAGGAGGTGGGGGA GGGGGGGGAGGGGGGGGAGAGGGAGGAAGGGGTTAGGGGAAGAGGGAGAG GAGAGAGAGGGAGTAAAGGGGAGGGGGGGGAGAGAGAGACGGGGGGAGAG AGAGGGAGAAAAGGAGAGGGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0137 a0001c0002t0001g0137	1	186	0.0054	179	c.537 others(198): Show c.537+18643_537+18644insTCTCTCTCCCCCCTCTCCTTTTCTCC CTCTCTCTCCCCCCGTCTCTCTCTCCCCCCCCTCCCCTTTACTCCCTCTC TCTCCTCTCCCTCTTCCCCTAACCCCTTCCTCCCTCTCCCCCCCCTCCCC CCCCTCCCCCACCTCCTCGTCTCTCCCCCCCTCTCCCCCACCTCCTTGTC TCT	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	3/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31857789	G G	GAGAGACA others(172): Show GAGAGACAAGGAGGTGGGGGAGAGGGGGGGAGAGACGAGGAGGTGGGGGA GGGGGGGGGAGGGGGGGAGAGGGAGGAAGGGGTTAGGGGAAGAGGGAGAG GAGAGAGAGGGAGTAAAGGGGAGGGGGGGAGAGAGAGACGGGGGGAGAGA GAGGGAGAAAAGGAGAGGGGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0158 a0002c0003t0001g0158	1	186	0.0054	179	c.537 others(198): Show c.537+18643_537+18644insTCTCTCTCCCCCCCTCTCCTTTTCTC CCTCTCTCTCCCCCCGTCTCTCTCTCCCCCCCTCCCCTTTACTCCCTCTC TCTCCTCTCCCTCTTCCCCTAACCCCTTCCTCCCTCTCCCCCCCTCCCCC CCCCTCCCCCACCTCCTCGTCTCTCCCCCCCTCTCCCCCACCTCCTTGTC TCT	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	3/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31857789	G G	GAGAGACA others(172): Show GAGAGACAAGGAGGTGGGGGAGAGGGGGGGAGAGACGAGGAGGTGGGGGA GGGGGGGGGAGGGGGGGAGAGGGAGGAAGGGGTTAGGGGAAGAGGGAGAG GAGAGAGAGGGAGTAAAGGGGAGGGGGGGGAGAGAGAGACGGGGGGAGAG AGAGGGAGAAAAGGAGAGGGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03471.hp1 HG03130.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0152 a0001c0001t0001g0023 a0001c0001t0001g0152	2	186	0.0108	179	c.537 others(198): Show c.537+18643_537+18644insTCTCTCTCCCCCCTCTCCTTTTCTCC CTCTCTCTCCCCCCGTCTCTCTCTCCCCCCCCTCCCCTTTACTCCCTCTC TCTCCTCTCCCTCTTCCCCTAACCCCTTCCTCCCTCTCCCCCCCTCCCCC CCCCTCCCCCACCTCCTCGTCTCTCCCCCCCTCTCCCCCACCTCCTTGTC TCT	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	3/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31857789	G G	GAGAGACA others(172): Show GAGAGACAAGGAGGTGGGGGAGAGGGGGGGAGAGACGAGGAGGTGGGGGA GGGGGGGGGAGGGGGGGGAGAGGGAGGAAGGGGTTAGGGGAAGAGGGAGA GGAGAGAGAGGGAGTAAAGGGGAGGGGGGGAGAGAGAGACGGGGGGAGAG AGAGGGAGAAAAGGAGAGGGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18966.hp1 HG02071.hp1 NA18966.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0013 a0002c0003 a0003c0013	a0002c0003t0003 a0003c0013t0002 a0002c0003t0003 a0003c0013t0002	a0002c0003t0003g0173 a0003c0013t0002g0012 a0002c0003t0003g0173 a0003c0013t0002g0012	2	186	0.0108	179	c.537 others(198): Show c.537+18643_537+18644insTCTCTCTCCCCCCTCTCCTTTTCTCC CTCTCTCTCCCCCCGTCTCTCTCTCCCCCCCTCCCCTTTACTCCCTCTCT CTCCTCTCCCTCTTCCCCTAACCCCTTCCTCCCTCTCCCCCCCCTCCCCC CCCCTCCCCCACCTCCTCGTCTCTCCCCCCCTCTCCCCCACCTCCTTGTC TCT	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	3/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31857789	G G	GAGAGACA others(172): Show GAGAGACAAGGAGGTGGGGGAGAGGGGGGGGAGAGACGAGGAGGTGGGGG AGGGGGGGGGAGGGGGGGAGAGGGAGGAAGGGGTTAGGGGAAGAGGGAGA GGAGAGAGAGGGAGTAAAGGGGAGGGGGGGAGAGAGAGACGGGGGGAGAG AGAGGGAGAAAAGGAGAGGGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0118 a0002c0004t0001g0118	1	186	0.0054	179	c.537 others(198): Show c.537+18643_537+18644insTCTCTCTCCCCCCTCTCCTTTTCTCC CTCTCTCTCCCCCCGTCTCTCTCTCCCCCCCTCCCCTTTACTCCCTCTCT CTCCTCTCCCTCTTCCCCTAACCCCTTCCTCCCTCTCCCCCCCTCCCCCC CCCTCCCCCACCTCCTCGTCTCTCCCCCCCCTCTCCCCCACCTCCTTGTC TCT	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	3/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31857789	G G	GGAGAGAC others(172): Show GGAGAGACGAGGAGGTGGGGGAGAGTGGGGGAGAGACGAGGAGGTGGGGG AGGGGGGGAGGGGGGGGAGAGGGAGGAAGGGGTTAGGGGAAGAGGGAGAG GAGAGAGAGGGAGTAAAGGGGAGGGGGGGGAGAGAGAGACGGGGGGAGAG AGAGGGAGAAAAGGAGAGGGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	186	0.0054	179	c.537 others(198): Show c.537+18643_537+18644insTCTCTCTCCCCCCTCTCCTTTTCTCC CTCTCTCTCCCCCCGTCTCTCTCTCCCCCCCCTCCCCTTTACTCCCTCTC TCTCCTCTCCCTCTTCCCCTAACCCCTTCCTCCCTCTCCCCCCCCTCCCC CCCTCCCCCACCTCCTCGTCTCTCCCCCACTCTCCCCCACCTCCTCGTCT CTC	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	3/11			chr3	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(172): Show AGGGAAGGGAAGAGGGGGGGGAAAGGGAAGGGAAGGGGAGGGGAGGGGGG AGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAGG GGAGGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGAAGGAAGGGAAGGGGAGGGAAG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG03704.hp2 HG01071.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0096 a0001c0001t0001g0097	2	302	0.0066	179	c.155 others(196): Show c.1551+378_1551+379insCTTCCCTCCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTTCCCTTCCCTTTCCCCCCCCTCTTCCCTTCC C	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PASD1_chrX_151558675_151681739	151562917	G G	GGGGGGTC others(172): Show GGGGGGTCGGTGGTCCGGGCGGGGGCGGGGGGGCAGCTGGGGCGGGGGGC GGGGGGGGGCGGGGGGGGGCGGGGGGGCGGGGGGGGGCGGGGGGGGGCGG GGGGGCGGGGGGGCGGGGGGCGGGGGGGCGGGGGGGGCGGGGGGGGCGGG GGGCGGGGGGGGCGGGGGGGGCGGGGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	221	0.0045	179	c.-95 others(188): Show c.-950_-949insGGGGGTCGGTGGTCCGGGCGGGGGCGGGGGGGCAGC TGGGGCGGGGGGCGGGGGGGGGCGGGGGGGGGCGGGGGGGCGGGGGGGGG CGGGGGGGGGCGGGGGGGCGGGGGGGCGGGGGGCGGGGGGGCGGGGGGGG CGGGGGGGGCGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGCC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		757		chrX	TogoVar
PATL1_chr11_59631716_59674037	59632725	A A	ATATATAT others(172): Show ATATATATCTATATATATCTATATATATTATCTATATATATCTATATATA TCTATATATATATCTATATATATCTATATATATCTATATATATATCTATA TATATCTATATATATATCTATATATATCTATATATATATCTATATATATC TATATATATCTATATATATCAATATATATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	276	0.0036	179	c.56 others(190): Show c.5664_*5665insGATATATATTGATATATATAGATATATATAGATA TATATAGATATATATATAGATATATATAGATATATATATAGATATATATA GATATATATATAGATATATATAGATATATATAGATATATATATAGATATA TATAGATATATATAGATAATATATATAGATATATATAGATATATA	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding		3990		chr11	TogoVar
PCBP3_chr21_45638725_45947450	45746719	T T	TGGTGTCA others(172): Show TGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTG TCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGC ATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGC CGTGTCAGTCCATTGACGTAGCGCCACATG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	292	0.0034	179	c.-16 others(198): Show c.-161-8697_-161-8696insGTGTCAGCATCGCCGTGTCAGTCCAT TGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACG TAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCG CACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCCACA TGG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46413085	C C	CGGGAGAG others(172): Show CGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGC GAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCG GGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCAGCAGCAAGGT GTGGGGAGGGGGAAGGCGTGAGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	332	0.0030	179	c.615 others(196): Show c.6150+140_6150+141insGCGAGGTCCCCCCGGGAGAGGCTGGACA CGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAG AGGCTGGACACGCAGCAGCAAGGTGTGGGGAGGGGGAAGGCGTGAGGCCC CCCTGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGG C	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46413145	C C	CGGGAGAG others(172): Show CGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGC GAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCG GGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCAGCAGCAAGGT GTGGGGAGGGGGAAGGCGTGAGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02280.hp2 HG02886.hp2 HG01192.hp2 HG02280.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0279 a0001c0001t0001g0317 a0001c0001t0001g0318	3	332	0.0090	179	c.615 others(196): Show c.6150+200_6150+201insGCGAGGTCCCCCCGGGAGAGGCTGGACA CGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAG AGGCTGGACACGCAGCAGCAAGGTGTGGGGAGGGGGAAGGCGTGAGGCCC CCCTGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGG C	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46413194	C C	CGAGGTCC others(172): Show CGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGC GGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCAGCAGCAAGG TGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGC GGCAGCAAGGTGTGGGGAGGGGGAAGGCGT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	332	0.0030	179	c.615 others(196): Show c.6150+206_6150+207insTCCCCCCGGGAGAGGCTGGACACGCGGC AGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTG GACACGCAGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCG GGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGGGGGAAGGCGTGAG G	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46413205	C C	CGGGAGAG others(172): Show CGGGAGAGGCTGGACACGCAGCAGCAAGGTGTGGGGAGCGGGGAAGGCGC GAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCG GGGAAGGCGTGAGGCCCCCCTGGGAGAGGCTGGACACGCAGCAGCAAGGT GTGGGGAGGGGGAAGGCGTGAGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0054 a0002c0002t0001g0054	1	332	0.0030	179	c.615 others(196): Show c.6150+250_6150+251insCGGGGAAGGCGCGAGGTCCCCCCGGGAG AGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGTGAGGCC CCCCTGGGAGAGGCTGGACACGCAGCAGCAAGGTGTGGGGAGGGGGAAGG CGTGAGGCCCCCCTGGGAGAGGCTGGACACGCAGCAGCAAGGTGTGGGGA G	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46413313	C C	CGAGGTCC others(172): Show CGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGC GGGGAAGGCGCGAGGCCCACCCGGGAGAGGCTGGACACGCAGCAGCAAGG TGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGC AGCAGCAAGGTGTGGGGAGGGGGAAGGCGT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0074 a0009c0011t0001g0074	1	332	0.0030	179	c.615 others(196): Show c.6150+325_6150+326insTCCCCCCGGGAGAGGCTGGACACGCGGC AGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGCCCACCCGGGAGAGGCTG GACACGCAGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCG GGAGAGGCTGGACACGCAGCAGCAAGGTGTGGGGAGGGGGAAGGCGTGAG G	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE11A_chr2_177618244_178077777	177946887	C C	CGCCTCTG others(172): Show CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAAGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0009 a0004c0012t0009	a0004c0012t0009g0053 a0004c0012t0009g0053	1	170	0.0059	179	c.107 others(200): Show c.1072-41701_1072-41700insACCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCTTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGC	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19			chr2	TogoVar

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