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
NBAS_chr2_15161916_15566334	15379415	T T	TAAGAAGC others(306): Show TAAGAAGCTGATGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACTAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0132 a0010c0013t0001g0132	1	224	0.0045	313	c.359 others(330): Show c.3590+186_3590+187insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTCCATCAGCTTCTT	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	30/51			chr2	TogoVar
NDST4_chr4_114822763_115118620	114947689	T T	TAATTTTG others(306): Show TAATTTTGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGG CTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGA GAATGGCGTGAATCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0085 a0001c0005t0001g0085	1	190	0.0053	313	c.122 others(334): Show c.1222-10187_1222-10186insTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCTGCCTCCCGGATTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCGCAAAATT	NDST4	ENSG00000138653.10	transcript	ENST00000264363.7	protein_coding	4/13			chr4	TogoVar
NDUFA9_chr12_4644114_4699317	4661708	A A	ACTAGAGT others(306): Show ACTAGAGTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGC TCTGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03453.hp1 HG03471.hp1 others(2): Show HG02717.hp2 HG03453.hp1 HG03471.hp1 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0006 a0001c0001t0010	a0001c0001t0006g0034 a0001c0001t0006g0036 a0001c0001t0010g0141 a0001c0001t0006g0034 a0001c0001t0006g0036 a0001c0001t0010g0141	5	362	0.0138	313	c.553 others(328): Show c.553-814_553-813insTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTTTCGCTCTGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTAGAGTTCTT	NDUFA9	ENSG00000139180.11	transcript	ENST00000266544.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
NDUFB4_chr3_120591336_120607507	120600105	T T	TAAGGTTT others(306): Show TAAGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00558.hp1 others(68): Show HG00280.hp1 HG00423.hp1 HG00558.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01496.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02129.hp2 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02523.hp2 HG02683.hp2 HG02698.hp1 HG03486.hp1 HG03491.hp2 HG03834.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18942.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18953.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp2 NA18986.hp1 NA18987.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA19004.hp2 NA19009.hp1 NA19011.hp2 NA19054.hp2 NA19056.hp1 NA19058.hp2 NA19068.hp2 NA19070.hp2 NA19080.hp1 NA19091.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0044 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0002g0003 a0001c0001t0005g0003	71	424	0.1675	313	c.181 others(328): Show c.181-991_181-990insTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCAAGGTTTTTTTTTTT	NDUFB4	ENSG00000065518.8	transcript	ENST00000184266.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
NDUFC1_chr4_139284931_139307477	139289132	C C	CAAAAAAA others(306): Show CAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	376	0.0027	313	c.98 others(322): Show c.980_*981insTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTC GCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCC CCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCTTTTTTTTTTTTTTTT	NDUFC1	ENSG00000109390.13	transcript	ENST00000394223.2	protein_coding		798		chr4	TogoVar
NDUFS6_chr5_1796407_1821048	1812526	T T	TGACTCCT others(306): Show TGACTCCTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACGACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp1 HG00738.hp2 others(29): Show HG00323.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01517.hp1 HG01978.hp2 HG02258.hp2 HG02293.hp1 HG03017.hp2 HG03491.hp2 HG03688.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18964.hp1 NA18970.hp1 NA19043.hp2 NA19055.hp2 NA20129.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0070 others(10): Show a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0070 a0001c0001t0001g0092 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0140	32	444	0.0721	313	c.187 others(330): Show c.187-1801_187-1800insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACGACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCGACTCCTCTTTT	NDUFS6	ENSG00000145494.12	transcript	ENST00000274137.10	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TAATATAT others(306): Show TAATATATATTATATATAAATATATAATATATATAATATATATTATATAT AAATATATAATATATATAATATATATTATATATAAATATATAATATATAT TATATATAAATATATATTATATATTATATATTTATATATTATAATATATA ATATATATAATATATAATATATAATATATAAATATATTATAATATATAAT ATATATTATATATAAATATATAATATATAATGTATATTATATTATATATA TTATATAATATGTAAATATATATTATATATATTATATAATATATAATATA TTATATAATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01258.hp2 HG03579.hp1 others(1): Show HG01109.hp1 HG01258.hp2 HG03579.hp1 NA20905.hp2	a0002 a0005 a0006 a0002 a0005 a0006	a0002c0002 a0005c0013 a0006c0017 a0002c0002 a0005c0013 a0006c0017	a0002c0002t0009 a0005c0013t0009 a0006c0017t0009 a0002c0002t0009 a0005c0013t0009 a0006c0017t0009	a0002c0002t0009g0017 a0002c0002t0009g0052 a0005c0013t0009g0051 others(1): Show a0002c0002t0009g0017 a0002c0002t0009g0052 a0005c0013t0009g0051 a0006c0017t0009g0017	4	348	0.0115	313	c.48+ others(328): Show c.48+1020_48+1021insAATATATATTATATATAAATATATAATATA TATAATATATATTATATATAAATATATAATATATATAATATATATTATAT ATAAATATATAATATATATTATATATAAATATATATTATATATTATATAT TTATATATTATAATATATAATATATATAATATATAATATATAATATATAA ATATATTATAATATATAATATATATTATATATAAATATATAATATATAAT GTATATTATATTATATATATTATATAATATGTAAATATATATTATATATA TTATATAATATATAATATATTATATAATATATA	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3			chr21	TogoVar
NEPRO_chr3_112997444_113024671	113024140	T T	TAAAACAA others(306): Show TAAAACAATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0009 a0003c0003t0003g0009	1	454	0.0022	313	c.-44 others(324): Show c.-4494_-4493insGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG GCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAA AACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAATATTGTTTT	NEPRO	ENSG00000163608.15	transcript	ENST00000314400.10	protein_coding		4470		chr3	TogoVar
NGEF_chr2_232873701_233018256	232981166	C C	CAAAAAGT others(306): Show CAAAAAGTATAACTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp2 HG02630.hp1 others(19): Show HG02145.hp1 HG02280.hp2 HG02630.hp1 HG02647.hp1 HG02895.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp2 NA18522.hp1 NA18973.hp2 NA19000.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0016 a0001c0001t0031 a0001c0002t0003 a0001c0002t0011 a0001c0003t0010 a0001c0004t0004 a0001c0005t0001 a0001c0005t0007 a0001c0013t0001	a0001c0001t0001g0121 a0001c0001t0001g0339 a0001c0001t0002g0029 others(19): Show a0001c0001t0001g0121 a0001c0001t0001g0339 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0057 a0001c0001t0002g0153 a0001c0001t0002g0336 a0001c0001t0006g0277 a0001c0001t0008g0120 a0001c0001t0009g0040 a0001c0001t0016g0238 a0001c0001t0031g0021 a0001c0002t0003g0012 a0001c0002t0003g0240 a0001c0002t0003g0242 a0001c0002t0011g0122 a0001c0003t0010g0335 a0001c0004t0004g0035 a0001c0005t0001g0239 a0001c0005t0007g0338 a0001c0013t0001g0256 a0001c0013t0001g0278	22	362	0.0608	313	c.-74 others(330): Show c.-74-6203_-74-6202insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTCAGTTATACTTTTT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAT others(306): Show CTGTATATGTGTACAGTATGTATACTGCGTACAGCATGTATACTGTATAT ATGTACAGTATGTATACTGTATATATGTACAGTATGTATACTGTATACAG CATGTATACTGTATACAGCATGTATACTGTATACAGCATGTATACTGTAT ATATGTACAGTATGTATACCGTATACAGCATGTATACTGTATATATGTAC AGTATGTATACCGTATACAGTATGTATACCGTATACATATACAGTATGTA TACCGTATACAGTATGTATACCGTATATATACACAGTATGTATACCGTAT ATATATACACAGTA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0332 a0001c0003t0005g0332	1	362	0.0028	313	c.-75 others(332): Show c.-75+17711_-75+17712insTACTGTGTATATATATACGGTATACA TACTGTGTATATATACGGTATACATACTGTATACGGTATACATACTGTAT ATGTATACGGTATACATACTGTATACGGTATACATACTGTACATATATAC AGTATACATGCTGTATACGGTATACATACTGTACATATATACAGTATACA TGCTGTATACAGTATACATGCTGTATACAGTATACATGCTGTATACAGTA TACATACTGTACATATATACAGTATACATACTGTACATATATACAGTATA CATGCTGTACGCAGTATACATACTGTACACATATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NLRP12_chr19_53788741_53829314	53794577	C C	CCCAAAGT others(306): Show CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCATAATTT TTTTTTTTTATATACTGAGTCTTGCTGTCACCCAGGCTGGAGTGGGGTAG TGTGATCTCGGCTCACTGCAACCTCCACGTCCCATGTCCTAGTGATCCTC CCACCTCAGCCTCCCTAGTAGCTGGGACTACAGAGTAGCTGGGACTATAG GTGCGTGCTACCATGCCCAGCTAATTTTTGTATTTTTAGCAGAGACAGGG ATTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTGAAGCAATCT GCTCATCTTGGCCT	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0003 a0005c0011t0003	a0005c0011t0003g0104 a0005c0011t0003g0104	1	416	0.0024	313	c.309 others(330): Show c.3099-442_3099-441insAGGCCAAGATGAGCAGATTGCTTCAGGT CAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAATCCCTGTCTCTGCTA AAAATACAAAAATTAGCTGGGCATGGTAGCACGCACCTATAGTCCCAGCT ACTCTGTAGTCCCAGCTACTAGGGAGGCTGAGGTGGGAGGATCACTAGGA CATGGGACGTGGAGGTTGCAGTGAGCCGAGATCACACTACCCCACTCCAG CCTGGGTGACAGCAAGACTCAGTATATAAAAAAAAAAAATTATGGCCGGG CATGGTGGCTCACGCCTGTAATCCCAGCACTTTGG	NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	9/9			chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993533	C C	CCCCCTCC others(306): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCC CCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCC TCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0042 a0042	a0042c0046 a0042c0046	a0042c0046t0006 a0042c0046t0006	a0042c0046t0006g0260 a0042c0046t0006g0260	1	350	0.0029	313	c.56 others(324): Show c.5620_*5621insCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCC TCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCC CCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCTCCCCCTCCCCCTCCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4905		chr19	TogoVar
NOC4L_chr12_132139457_132157468	132150015	T T	TCACACCA others(306): Show TCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCGGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCACTCACAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0003 a0003	a0003c0035 a0003c0035	a0003c0035t0001 a0003c0035t0001	a0003c0035t0001g0269 a0003c0035t0001g0269	1	294	0.0034	313	c.902 others(328): Show c.902-960_902-959insACACCCCTAATCCCCTCGGTGAGTGCGGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCGGCCGCCTCGCTCCTACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCACTCACACCACACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGGGG others(306): Show GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGC AATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGG GCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAG GGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18975.hp1 HG00621.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0185 a0001c0001t0003g0218 a0001c0001t0003g0185 a0001c0001t0003g0218	2	324	0.0062	313	c.140 others(330): Show c.140+8514_140+8515insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGAT CCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGGGG others(306): Show GGTGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGG TGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGG GTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGG GTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGG GGCAATGGGTGCAGGGTGGGTGGGGGGGGAGCACTCAGGATCCCTCCCAG GGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0170 a0001c0001t0024g0170	1	324	0.0031	313	c.140 others(330): Show c.140+8514_140+8515insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCC TGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCGGGA GGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATT GCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NPFFR2_chr4_72027000_72153305	72093684	T T	TGATTGTT others(306): Show TGATTGTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03139.hp1 NA19043.hp1 HG01891.hp1 HG03139.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0195 a0001c0001t0002g0204 a0001c0001t0004g0206 a0001c0001t0002g0195 a0001c0001t0002g0204 a0001c0001t0004g0206	3	344	0.0087	313	c.-7- others(330): Show c.-7-34890_-7-34889insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGATTGTTTTTT	NPFFR2	ENSG00000056291.19	transcript	ENST00000308744.12	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
NPY4R_chr10_46456099_46470958	46461033	C C	CAGAATTC others(306): Show CAGAATTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0035 a0002c0009t0001g0035	1	290	0.0035	313	c.47 others(322): Show c.474_*475insAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAGAATTCT	NPY4R	ENSG00000204174.8	transcript	ENST00000374312.5	protein_coding		65		chr10	TogoVar
NRF1_chr7_129606720_129762076	129642756	A A	ACTTTTTT others(306): Show ACTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCTTTT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0048 a0001c0001t0006g0048	1	384	0.0026	313	c.-6- others(330): Show c.-6-14590_-6-14589insCTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding	1/10			chr7	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(306): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCC TCCTCTCCCCTCCCCTCCCACCCTCCCCCCCTCCCCTTCCCCTCCCCTCC CCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTTCCCCTCCCCTC CCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCC TTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCC CCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCC TTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0018 a0001c0011t0018	a0001c0011t0018g0240 a0001c0011t0018g0240	1	326	0.0031	313	c.433 others(330): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAG GGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAGGGGAA GGGGAGGGGGGGAGGGTGGGAGGGGAGGGGAGAGGAGGGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664507	T T	TCCTCTCC others(306): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCC CCCCCCTCCCCTCCCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTT CCCCTCCCCTCCCCTTCCCCTCCCCTCTCCCCTCCCCCTTCCCTCCCCCT TCCCCTCCCCTTCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCC CTTCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0074 a0001c0001t0013g0074	1	326	0.0031	313	c.433 others(330): Show c.433+1013_433+1014insGAGGGGAGGGGAAGGGGAGAGGGAAGGG GAAGGGGGAGGGGAAGGGGGAGGGAAGGGGAGGGGAAGGGGGAGGGAAGG GGGAGGGGAGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGGAG GGGAGGGGGGAGGGGGAGGGGGGGAGGGGAGGGGGGGGAGGGGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NUDCD1_chr8_109235919_109339087	109337068	T T	TCATTTAA others(306): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCAC CACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGC CTCCCAAAGTGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	360	0.0028	313	c.-30 others(324): Show c.-3059_-3058insCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAACTTTAAATG	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding		2982		chr8	TogoVar
NUDT3_chr6_34274679_34397669	34298468	T T	TAAGAAAA others(306): Show TAAGAAAAATGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02717.hp2 HG03098.hp2 others(6): Show HG02145.hp1 HG02717.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03540.hp1 HG03579.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0013 a0001c0001t0016 a0001c0001t0009 a0001c0001t0013 a0001c0001t0016	a0001c0001t0009g0108 a0001c0001t0009g0116 a0001c0001t0009g0117 others(6): Show a0001c0001t0009g0108 a0001c0001t0009g0116 a0001c0001t0009g0117 a0001c0001t0013g0112 a0001c0001t0013g0113 a0001c0001t0013g0115 a0001c0001t0016g0110 a0001c0001t0016g0111 a0001c0001t0016g0114	9	270	0.0333	313	c.211 others(330): Show c.211-2784_211-2783insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCTGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTACATTTTTCTT	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	2/4			chr6	TogoVar
NUP93_chr16_56725129_56855286	56808373	A A	ATAAAATA others(306): Show ATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAACTAT ATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAACTAT ATAAAATATATAGTTATATAACTATATAAAATATAGTTATATAACTATAT AAAATATAGTTATATAACTATATAAAATATAGTTATATAACTATATAAAA TATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAAC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA19087.hp2 NA18954.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0019 a0001c0002 a0001c0019	a0001c0002t0001 a0001c0019t0001 a0001c0002t0001 a0001c0019t0001	a0001c0002t0001g0073 a0001c0019t0001g0078 a0001c0002t0001g0073 a0001c0019t0001g0078	2	378	0.0053	313	c.489 others(330): Show c.489+2743_489+2744insAAATATATAGTTATATAACTATATAAAA TATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAA TATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAA TATAGTTATATAACTATATAAAATATAGTTATATAACTATATAAAATATA GTTATATAACTATATAAAATATAGTTATATAACTATATAAAATATATAGT TATATAACTATATAAAATATATAGTTATATAACTATATAAAATATATAGT TATATAACTATATAAAATATATAGTTATATAACTA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808448	A A	ATAAAATA others(306): Show ATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAACTAT ATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAACTAT ATAAAATATATAGTTATATAACTATATAAAATATAGTTATATAACTATAT AAAATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAA AATATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAA AATATATAGTTATGTAACTATAAAATATATAGTTATGTAACTATAAAATA TATAGTTATGTAAC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0106 a0001c0002t0001g0106	1	378	0.0027	313	c.489 others(330): Show c.489+2818_489+2819insAAATATATAGTTATATAACTATATAAAA TATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAA TATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAA TATAGTTATATAACTATATAAAATATAGTTATATAACTATATAAAATATA TAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATATA TAGTTATATAACTATATAAAATATATAGTTATGTAACTATAAAATATATA GTTATGTAACTATAAAATATATAGTTATGTAACTA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NXN_chr17_794310_984776	831917	T T	TAAAAGAG others(306): Show TAAAAGAGATCCTCCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGAGAC CATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp1 HG03516.hp1 HG00642.hp2 HG00741.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0001 a0001c0001t0003 a0001c0001t0011	a0001c0001t0001g0017 a0001c0001t0003g0020 a0001c0001t0011g0174 a0001c0001t0001g0017 a0001c0001t0003g0020 a0001c0001t0011g0174	3	242	0.0124	313	c.361 others(330): Show c.361-5840_361-5839insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTG ACCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCCAGGAGGATCTCTTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	831917	T T	TAAAAGAG others(306): Show TAAAAGAGATCCTCCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	242	0.0041	313	c.361 others(330): Show c.361-5840_361-5839insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCTGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCCAGGAGGATCTCTTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	831917	T T	TAAAAGAG others(306): Show TAAAAGAGATCCTCCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTACAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	242	0.0041	313	c.361 others(330): Show c.361-5840_361-5839insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGTA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCCAGGAGGATCTCTTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	831917	T T	TAAAAGAG others(306): Show TAAAAGAGATCCTCCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00597.hp1 others(60): Show HG00323.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00673.hp2 HG01106.hp1 HG01169.hp1 HG01192.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01975.hp1 HG01975.hp2 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02486.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18943.hp2 NA18948.hp1 NA18952.hp2 NA18964.hp1 NA18970.hp1 NA18983.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA20805.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0012 a0003c0013 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016 a0001c0001t0023 a0001c0001t0024 a0001c0001t0031 a0001c0002t0004 a0001c0003t0001 a0001c0003t0008 a0001c0004t0001 a0001c0004t0002 a0001c0004t0007 a0001c0007t0001 a0001c0012t0004 a0003c0013t0001 a0004c0008t0002	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0064 others(60): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0064 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0139 a0001c0001t0001g0166 a0001c0001t0001g0177 a0001c0001t0001g0201 a0001c0001t0001g0206 a0001c0001t0002g0081 a0001c0001t0002g0087 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0002g0114 a0001c0001t0002g0121 a0001c0001t0002g0133 a0001c0001t0002g0141 a0001c0001t0002g0149 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0003g0065 a0001c0001t0003g0084 a0001c0001t0003g0181 a0001c0001t0003g0208 a0001c0001t0004g0041 a0001c0001t0004g0155 a0001c0001t0005g0007 a0001c0001t0005g0054 a0001c0001t0005g0074 a0001c0001t0005g0209 a0001c0001t0006g0202 a0001c0001t0007g0040 a0001c0001t0008g0176 a0001c0001t0008g0192 a0001c0001t0012g0018 a0001c0001t0012g0066 a0001c0001t0016g0001 a0001c0001t0023g0052 a0001c0001t0024g0011 a0001c0001t0031g0238 a0001c0002t0004g0016 a0001c0002t0004g0043 a0001c0002t0004g0228 a0001c0003t0001g0042 a0001c0003t0001g0223 a0001c0003t0008g0022 a0001c0003t0008g0179 a0001c0004t0001g0235 a0001c0004t0002g0232 a0001c0004t0007g0233 a0001c0007t0001g0089 a0001c0012t0004g0234 a0003c0013t0001g0236 a0004c0008t0002g0194	63	242	0.2603	313	c.361 others(330): Show c.361-5840_361-5839insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCCAGGAGGATCTCTTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	831917	T T	TAAAAGAG others(306): Show TAAAAGAGATCCTCCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03710.hp2 HG03491.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0148 a0001c0001t0005g0132 a0001c0001t0002g0148 a0001c0001t0005g0132	2	242	0.0083	313	c.361 others(330): Show c.361-5840_361-5839insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCCAGGAGGATCTCTTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	831917	T T	TAAAAGAG others(306): Show TAAAAGAGATCCTCCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02698.hp1 HG00735.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0005 a0001c0001t0002 a0001c0006t0005	a0001c0001t0002g0191 a0001c0006t0005g0080 a0001c0001t0002g0191 a0001c0006t0005g0080	2	242	0.0083	313	c.361 others(330): Show c.361-5840_361-5839insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCCAGGAGGATCTCTTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	831917	T T	TAAAAGAG others(306): Show TAAAAGAGATCCTCCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	242	0.0041	313	c.361 others(330): Show c.361-5840_361-5839insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCCAGGAGGATCTCTTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR10H1_chr19_15799549_15820664	15817125	C C	CAAAAGAA others(306): Show CAAAAGAATGGAAAAGGAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACGTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	398	0.0025	313	c.-23 others(324): Show c.-2349_-2348insTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAACGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCCTCCTTTTCCATTCTTTT	OR10H1	ENSG00000186723.4	transcript	ENST00000641419.1	protein_coding		1462		chr19	TogoVar
OR10H1_chr19_15799549_15820664	15817125	C C	CAAAAGAA others(306): Show CAAAAGAATGGAAAAGGAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0044 a0001c0006t0044	a0001c0006t0044g0209 a0001c0006t0044g0209	1	398	0.0025	313	c.-23 others(324): Show c.-2349_-2348insTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCCTCCTTTTCCATTCTTTT	OR10H1	ENSG00000186723.4	transcript	ENST00000641419.1	protein_coding		1462		chr19	TogoVar
OR51A7_chr11_4898783_4914462	4902306	C C	CTAGAATT others(306): Show CTAGAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCG CAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAG GATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAA GTGCTGGGACTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG03195.hp2 HG01433.hp1 HG03195.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0012 a0001c0001 a0006c0012	a0001c0001t0001 a0006c0012t0012 a0001c0001t0001 a0006c0012t0012	a0001c0001t0001g0025 a0006c0012t0012g0055 a0001c0001t0001g0025 a0006c0012t0012g0055	2	452	0.0044	313	c.-15 others(324): Show c.-1570_-1569insTAGAATTTCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTG CGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGC CCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCG CCTCGGCCTCCCAAAGTGCTGGGACTACA	OR51A7	ENSG00000176895.9	transcript	ENST00000641490.1	protein_coding		1476		chr11	TogoVar
OR5T1_chr11_56269154_56281819	56274110	T T	TAAGAATT others(306): Show TAAGAATTCAAATGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCG GGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0009 a0001c0002t0004g0009	1	379	0.0026	313	c.-33 others(322): Show c.-334_-333insAAGAATTCAAATGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAA	OR5T1	ENSG00000181698.5	transcript	ENST00000641665.1	protein_coding		43		chr11	TogoVar
PADI2_chr1_17061761_17124451	17114628	T T	TAAGAAAC others(306): Show TAAGAAACGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTG AAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCG GGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02723.hp2 HG02897.hp2 others(1): Show HG01109.hp1 HG02723.hp2 HG02897.hp2 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0007 a0003c0021 a0001c0007 a0003c0021	a0001c0007t0005 a0001c0007t0033 a0003c0021t0032 a0001c0007t0005 a0001c0007t0033 a0003c0021t0032	a0001c0007t0005g0341 a0001c0007t0005g0343 a0001c0007t0033g0342 others(1): Show a0001c0007t0005g0341 a0001c0007t0005g0343 a0001c0007t0033g0342 a0003c0021t0032g0329	4	356	0.0112	313	c.92+ others(328): Show c.92+4651_92+4652insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCATCGTTTCTT	PADI2	ENSG00000117115.13	transcript	ENST00000375486.9	protein_coding	1/15			chr1	TogoVar
PARD3_chr10_34104561_34820296	34746622	T T	TGAAAATT others(306): Show TGAAAATTGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0015 a0001c0002t0004g0015	1	100	0.0100	313	c.121 others(332): Show c.121-50204_121-50203insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCGACAATTTTC	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	1/24			chr10	TogoVar
PARP14_chr3_122675839_122735840	122726893	T T	TAATTTTA others(306): Show TAATTTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0261 a0001c0001t0002g0261	1	366	0.0027	313	c.494 others(330): Show c.4942-912_4942-911insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAATTTTA	PARP14	ENSG00000173193.15	transcript	ENST00000474629.7	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PATL1_chr11_59631716_59674037	59636010	T T	TAAAAATT others(306): Show TAAAAATTACCCAGGTGTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCACGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01106.hp1 HG00639.hp2 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0192 a0001c0001t0001g0193	2	276	0.0073	313	c.23 others(324): Show c.2379_*2380insTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCGTGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCACACCTGGGTAATTTTT	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding		705		chr11	TogoVar
PCDH15_chr10_53797771_54806231	53801591	T T	TGTGGTGC others(306): Show TGTGGTGCTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0098	1	102	0.0098	313	c.49 others(324): Show c.4987_*4988insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAGAGCACCAC	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding		1179		chr10	TogoVar
PDE11A_chr2_177618244_178077777	177784213	A A	AAAACAGG others(306): Show AAAACAGGATGTGGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGACACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAACG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0017 a0001c0025t0017	a0001c0025t0017g0046 a0001c0025t0017g0046	1	170	0.0059	313	c.173 others(334): Show c.1738-14841_1738-14840insCGTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTGTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTACCACATCCTGTTT	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	9/19			chr2	TogoVar
PDE1C_chr7_31746179_32075407	31852977	T T	TTAATTTC others(306): Show TTAATTTCACTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC ATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	1	262	0.0038	313	c.751 others(330): Show c.751-2237_751-2236insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CTGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAGTGAAATTA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	7/17			chr7	TogoVar
PDE2A_chr11_72571141_72679422	72609864	T T	TAAAAGAC others(306): Show TAAAAGACCACAGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 NA18973.hp1 others(1): Show HG00423.hp1 HG00438.hp2 NA18973.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0010 a0001c0001t0001g0148 a0001c0001t0001g0150	4	292	0.0137	313	c.145 others(330): Show c.145-1114_145-1113insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACTGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCAACTGTGGTCTTTT	PDE2A	ENSG00000186642.16	transcript	ENST00000334456.10	protein_coding	2/30			chr11	TogoVar
PDE2A_chr11_72571141_72679422	72609864	T T	TAAAAGAC others(306): Show TAAAAGACCACAGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00621.hp2 others(44): Show HG00099.hp2 HG00280.hp2 HG00621.hp2 HG00642.hp1 HG00733.hp2 HG00738.hp1 HG01081.hp1 HG01123.hp1 HG01256.hp1 HG01358.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02155.hp2 HG02523.hp1 HG02615.hp1 HG03017.hp2 HG03239.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG04204.hp2 NA18951.hp2 NA18963.hp1 NA18967.hp1 NA18981.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp1 NA18998.hp1 NA18999.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19085.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0014 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0014 a0001c0003t0001 a0002c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0033 a0001c0001t0001g0049 others(43): Show a0001c0001t0001g0009 a0001c0001t0001g0033 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0208 a0001c0001t0001g0238 a0001c0001t0001g0249 a0001c0001t0014g0146 a0001c0003t0001g0209 a0002c0004t0001g0070	47	292	0.1610	313	c.145 others(330): Show c.145-1114_145-1113insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACTGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCAACTGTGGTCTTTT	PDE2A	ENSG00000186642.16	transcript	ENST00000334456.10	protein_coding	2/30			chr11	TogoVar
PDE2A_chr11_72571141_72679422	72609864	T T	TAAAAGAC others(306): Show TAAAAGACCACAGTTGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	292	0.0034	313	c.145 others(330): Show c.145-1114_145-1113insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACTGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCAGCCAACTGTGGTCTTTT	PDE2A	ENSG00000186642.16	transcript	ENST00000334456.10	protein_coding	2/30			chr11	TogoVar
PDIA2_chr16_278164_292215	285871	G G	GGCGGTTC others(306): Show GGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAAC CCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGGT TCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACC CCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGC GGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACACCAACCCC GCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTC CCAACCCCAACCCC	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0164 a0008c0009t0001g0164	1	436	0.0023	313	c.111 others(330): Show c.1119+187_1119+188insCCCCGCGGTTCTCCCAACCCCAACCCCA ACCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCG GTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAA CCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCC GCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACACCAACC CCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGGTTC TCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAA	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDZRN4_chr12_41183320_41579745	41429793	T T	TCTTATTT others(306): Show TCTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTTGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0013 a0013	a0013c0033 a0013c0033	a0013c0033t0006 a0013c0033t0006	a0013c0033t0006g0093 a0013c0033t0006g0093	1	206	0.0049	313	c.844 others(332): Show c.844-76653_844-76652insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAGTGGC GCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCTTATTTTTT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PFKFB3_chr10_6197932_6240532	6229149	G G	GAAAAGAA others(306): Show GAAAAGAATGACTGGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCACGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGATTCCGTCTCAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01346.hp2 HG01361.hp1 others(15): Show HG00558.hp2 HG01346.hp2 HG01361.hp1 HG02083.hp2 HG02135.hp2 HG02523.hp1 HG02615.hp2 HG02717.hp2 HG02818.hp1 HG03209.hp1 HG03453.hp2 HG03486.hp2 HG06807.hp2 NA18612.hp2 NA18968.hp2 NA18990.hp2 NA19060.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0017 a0001c0001t0018 others(7): Show a0001c0001t0009 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0032 a0001c0001t0037 a0001c0001t0043 a0001c0002t0021 a0001c0002t0044 a0001c0002t0045	a0001c0001t0009g0059 a0001c0001t0009g0122 a0001c0001t0009g0218 others(14): Show a0001c0001t0009g0059 a0001c0001t0009g0122 a0001c0001t0009g0218 a0001c0001t0009g0257 a0001c0001t0009g0296 a0001c0001t0009g0382 a0001c0001t0009g0403 a0001c0001t0017g0101 a0001c0001t0018g0317 a0001c0001t0022g0258 a0001c0001t0032g0168 a0001c0001t0037g0370 a0001c0001t0043g0034 a0001c0002t0021g0015 a0001c0002t0021g0199 a0001c0002t0044g0016 a0001c0002t0045g0020	18	432	0.0417	313	c.151 others(332): Show c.1515+2799_1515+2800insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCACGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGATTCC GTCTCAAAAAAAAAAAAAAAAAAAAAGAATGACTGGC	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKFB3_chr10_6197932_6240532	6229149	G G	GAAAAGAA others(306): Show GAAAAGAATGACTGGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCACGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGATTCCGTCTCAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0131 a0001c0001t0085g0131	1	432	0.0023	313	c.151 others(332): Show c.1515+2799_1515+2800insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCACGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGATTCC GTCTCAAAAAAAAAAAAAAAAAAAAAGAATGACTGGC	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PHACTR4_chr1_28364740_28505364	28395818	A A	ATTTTTTT others(306): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTAC AGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCTGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03453.hp1 HG03471.hp2 others(1): Show HG02970.hp2 HG03453.hp1 HG03471.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0037 a0002c0002t0038 a0002c0002t0039 others(1): Show a0002c0002t0037 a0002c0002t0038 a0002c0002t0039 a0002c0002t0043	a0002c0002t0037g0150 a0002c0002t0038g0126 a0002c0002t0039g0151 others(1): Show a0002c0002t0037g0150 a0002c0002t0038g0126 a0002c0002t0039g0151 a0002c0002t0043g0153	4	228	0.0175	313	c.-38 others(332): Show c.-38-11568_-38-11567insTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACA GGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCTGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar

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