Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
MSLN_chr16_755734_773862	767711	G G	GGCGTGGA others(351): Show GGCGTGGAGGAGGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGG GGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGC GCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTC GCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAG GGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGG GTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGG AGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTG GAGGGGGGC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	388	0.0026	358	c.159 others(375): Show c.1596+253_1596+254insGGCGTGTGGAGGGGGGCGCGTGGGGGGG GCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGG AGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGT GGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGC GTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGG CGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGT GCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGG GGGGGCGTGGAGGGGGGCGCGTGGAGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(351): Show GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGT GGCGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTGGTGGTAGTGGTGGTGGTGGTGATGGTGGTGGTGGTAGTGGTAAT GATGGTGGTGACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGG TGGTGGTGATGGTGGTAGTGTTCTGGTGGTAGTAGTGTTGGTTGTGGTGG TAGTCGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGTG GTAGTGTTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 NA18952.hp2 others(2): Show HG00438.hp1 HG00558.hp2 NA18952.hp2 NA18977.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0040 a0001c0001t0002 a0001c0001t0040	a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0057 others(2): Show a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0057 a0001c0001t0002g0084 a0001c0001t0040g0075	5	384	0.0130	358	c.160 others(375): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ACCAGCAGCACTACCACTACCACCACGACTACCACCACAACCAACACTAC TACCACCAGAACACTACCACCATCACCACCACCACCACCAGCAGCACTAC CACTACCACCACCATCATGGTCACCACCATCATTACCACTACCACCACCA CCATCACCACCACCACCACTACCACCACCACCACCACCACCACCATCACC ACCACCACCATCACCACCACCACCACCATCACCACCACCACCACCATCAC CACCACCACCACCACCACCACCACCACCGCCACCACCACCACCACCACCA CCACCACCATCACCACCACCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYT1L_chr2_1784113_2336275	1798080	A A	ATCCGGCA others(351): Show ATCCGGCACAGGCGCGGCGGTCTCCCCCCATCCGGCACAGGCGTGGCGGT CTCCCTCTTCTCCGGCACAGGCGCGGCGGTCTCCCCCTCCATCCGGCACA GGCGCGGCGGTCTCCCCCCATCCGGCACAGGCGTGGCGGTCTCCCTCTTC TCCGGCACAGGCGCGGCGGTCTCCCCCTCCATCCGGCACAGGCGCGGCGG TCTCCCCCCATCCGGCACAGGCGCGGCGGTCTCCCTCTTCTCCGGCACAG GCGCGGCGGTCTCCCCCTCCATCCGGCACAGGCGTGGCGGTCTCCCCCCA TCCGGCACAGGCGTGGCGGTCTCCCCCCATCCGGCACAGGCGCGGCGGTC TCCCTCTTC	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA20300.hp2 HG02735.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0002 a0001c0007t0018 a0001c0002t0002 a0001c0007t0018	a0001c0002t0002g0054 a0001c0007t0018g0068 a0001c0002t0002g0054 a0001c0007t0018g0068	2	104	0.0192	358	c.327 others(377): Show c.3276+3615_3276+3616insGAAGAGGGAGACCGCCGCGCCTGTGC CGGATGGGGGGAGACCGCCACGCCTGTGCCGGATGGGGGGAGACCGCCAC GCCTGTGCCGGATGGAGGGGGAGACCGCCGCGCCTGTGCCGGAGAAGAGG GAGACCGCCGCGCCTGTGCCGGATGGGGGGAGACCGCCGCGCCTGTGCCG GATGGAGGGGGAGACCGCCGCGCCTGTGCCGGAGAAGAGGGAGACCGCCA CGCCTGTGCCGGATGGGGGGAGACCGCCGCGCCTGTGCCGGATGGAGGGG GAGACCGCCGCGCCTGTGCCGGAGAAGAGGGAGACCGCCACGCCTGTGCC GGATGGGGGGAGACCGCCGCGCCTGTGCCGGA	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	23/24			chr2	TogoVar
NLGN1_chr3_173392744_174299372	174086282	T T	TACATATA others(351): Show TACATATATATATTTATGTATGTGCATACATATATATATTTATGTATGTG CATACATATATATATTTATGTATGTGCATACATATATATATTTATGTATG TGCATACATAAATATATTTATGTATGTGCATACATATATATTTATGTATG TGCATACATATATATATATTTATGTATGTGCATAAATATATATATATATT TATGTATGTGCATAAATATATATATATTTATGTATGTGCATAAATATATA TATATTTATGTATGTGCATAAATATATATATATTTATGTATGTGCATAAA TATATATATATATTTATGTATGTGCATAAATATATATATATATTTATGTA TGTGCATAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0030 a0001c0001t0014g0030	1	44	0.0227	358	c.707 others(379): Show c.707-189032_707-189031insCATATATATATTTATGTATGTGCA TACATATATATATTTATGTATGTGCATACATATATATATTTATGTATGTG CATACATATATATATTTATGTATGTGCATACATAAATATATTTATGTATG TGCATACATATATATTTATGTATGTGCATACATATATATATATTTATGTA TGTGCATAAATATATATATATATTTATGTATGTGCATAAATATATATATA TTTATGTATGTGCATAAATATATATATATTTATGTATGTGCATAAATATA TATATATTTATGTATGTGCATAAATATATATATATATTTATGTATGTGCA TAAATATATATATATATTTATGTATGTGCATAAA	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(351): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGT GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	356	0.0028	358	c.91+ others(371): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTG GGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOC3L_chr10_94328226_94367939	94330119	T T	TGAAAAGA others(351): Show TGAAAAGACTCGTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	380	0.0026	358	c.40 others(369): Show c.4057_*4058insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCT CCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCGAGACGAGTCTTTTC	NOC3L	ENSG00000173145.11	transcript	ENST00000371361.3	protein_coding		3106		chr10	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGGGG others(351): Show GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGT GGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGA GTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAAT GGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCA ATGGGTGCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG01192.hp1 HG00280.hp1 HG00642.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243	3	324	0.0093	358	c.140 others(375): Show c.140+8514_140+8515insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGAT CCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCC GGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCCCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(351): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATAAAGTATATATATAATATATATAATATATATTATATAT AAAGTATATATATAATATATATAATATATATTATATATATAAAGTATATA TATAATATATATAATATATATTATATATATAAAGTATATATATAATATAT ATAATATATATTATATATATAAAGTATATATATAATATATATAATATATA TTATATATATAAAGTATATATATAATATATAATATATATTATATATAAAG TATATATATAATATATATTATATATATATAAAATATATAATATATATTAT ATATATAAG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01257.hp2 HG02683.hp2 others(2): Show HG01168.hp2 HG01257.hp2 HG02683.hp2 HG02698.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0002 a0002c0005t0002 a0001c0003t0002 a0002c0005t0002	a0001c0003t0002g0147 a0001c0003t0002g0294 a0001c0003t0002g0295 others(2): Show a0001c0003t0002g0147 a0001c0003t0002g0294 a0001c0003t0002g0295 a0001c0003t0002g0296 a0002c0005t0002g0280	5	308	0.0162	358	c.730 others(375): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATTATATATATACTTTATATATATAATATATATTATATATATTAT ATATATACTTTATATATATAATATATATTATATATATTATATATATACTT TATATATATAATATATATTATATATATTATATATATACTTTATATATATA ATATATATTATATATATTATATATATACTTTATATATAATATATATTATA TATATTATATATATACTTTATATATAATATATATTATATATATTATATAT ATACTTTATATATATAATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NUP93_chr16_56725129_56855286	56739527	A A	ACTCCCCC others(351): Show ACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCCGGGGGCTG ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGTGGGGGGGCTGACTCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACATCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGG GGGCTGACC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	378	0.0027	358	c.-14 others(375): Show c.-14-8706_-14-8705insTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCCGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGAC TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC ATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGGCTGACCC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739527	A A	ACTCCCCC others(351): Show ACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCCGGGGGCTG ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGTGGGGGGGCTGACTCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACATCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGG GGGGCTGAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0170 a0001c0002t0001g0170	1	378	0.0027	358	c.-14 others(375): Show c.-14-8706_-14-8705insTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCCGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGAC TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC ATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGGGCTGACC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NXN_chr17_794310_984776	949354	C C	CCCTGCCT others(351): Show CCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTC CTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCGGC CTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCC CCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTC CTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCAG CCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCC CCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTC CTCTCCCCG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	242	0.0041	358	c.360 others(377): Show c.360+29964_360+29965insCGGGGAGAGGAGGAGGCAGGGGGAGA GGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGG GGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCTGCGGGGAGAGGAGGA GGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAG AGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGG GGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGG AGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAG AGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(351): Show ACTGAATGTACATTATTATTATTATTATTATTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGCT TCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0243 a0001c0001t0002g0243	1	438	0.0023	358	c.-29 others(373): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT AATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OSBPL9_chr1_51612092_51794219	51711466	A A	ACCCCCCC others(351): Show ACCCCCCCACCTCCCTCCCGGACGGGGAAGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCCGGGGGGCTGATCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGACGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGGG GCTGACCCC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18982.hp2 NA18980.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0037 a0001c0001t0001g0039	2	186	0.0108	358	c.242 others(375): Show c.242-2511_242-2510insAAGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCCGGGGGGCTGATCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGACGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCCCCCACCTCCCTCCCGGACGGGG	OSBPL9	ENSG00000117859.19	transcript	ENST00000428468.6	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
OSBPL9_chr1_51612092_51794219	51711466	A A	ACCCCCCC others(351): Show ACCCCCCCACCTCCCTCCCGGACGGGGAAGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCGCACCTGCCCGATGGGGCGGCTGGCCGGGCGGGGG GCTGACCCC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0048 a0006c0007t0001g0048	1	186	0.0054	358	c.242 others(375): Show c.242-2511_242-2510insAAGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCGCACCTGCCCGATGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCCCCCACCTCCCTCCCGGACGGGG	OSBPL9	ENSG00000117859.19	transcript	ENST00000428468.6	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
OSBPL9_chr1_51612092_51794219	51711466	A A	ACCCCCCC others(351): Show ACCCCCCCACCTCCCTCCCGGACGGGGAAGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGGG GCTGACCCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00673.hp1 others(39): Show HG00423.hp1 HG00423.hp2 HG00673.hp1 HG00738.hp2 HG01069.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01243.hp2 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG02004.hp1 HG02145.hp1 HG02293.hp1 HG02647.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp2 HG03579.hp1 HG03704.hp2 HG04228.hp1 NA18906.hp1 NA18941.hp2 NA18959.hp2 NA18963.hp1 NA18965.hp1 NA18983.hp1 NA18990.hp2 NA19000.hp2 NA19001.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp2 NA19074.hp1 NA20129.hp2 NA20805.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0022 a0004c0005t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 others(39): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0161 a0001c0001t0003g0129 a0001c0001t0010g0020 a0001c0001t0010g0021 a0001c0001t0011g0157 a0001c0001t0015g0053 a0001c0001t0022g0041 a0004c0005t0001g0028	42	186	0.2258	358	c.242 others(375): Show c.242-2511_242-2510insAAGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCCCCCACCTCCCTCCCGGACGGGG	OSBPL9	ENSG00000117859.19	transcript	ENST00000428468.6	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
OSBPL9_chr1_51612092_51794219	51711466	A A	ACCCCCCC others(351): Show ACCCCCCCACCTCCCTCCCGGACGGGGAAGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGG GGCTGACCC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0135 a0001c0001t0003g0135	1	186	0.0054	358	c.242 others(375): Show c.242-2511_242-2510insAAGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCCCACCTCCCTCCCGGACGGGG	OSBPL9	ENSG00000117859.19	transcript	ENST00000428468.6	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
OSBPL9_chr1_51612092_51794219	51711466	A A	ACCCCCCC others(351): Show ACCCCCCCACCTCCCTCCCGGACGGGGAAGCTGGCCGGGCGGGGGGCTGA CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGG GGCTGACCC	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0158 a0001c0001t0011g0158	1	186	0.0054	358	c.242 others(375): Show c.242-2511_242-2510insAAGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCCCACCTCCCTCCCGGACGGGG	OSBPL9	ENSG00000117859.19	transcript	ENST00000428468.6	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
OSBPL9_chr1_51612092_51794219	51711466	A A	ACCCCCCC others(351): Show ACCCCCCCACCTCCCTCCCGGACGGGGAAGCTGGCCGGGCGGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGG GGCTGACCC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	186	0.0054	358	c.242 others(375): Show c.242-2511_242-2510insAAGCTGGCCGGGCGGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCCCACCTCCCTCCCGGACGGGG	OSBPL9	ENSG00000117859.19	transcript	ENST00000428468.6	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
OSBPL9_chr1_51612092_51794219	51711473	C C	CACCTCCC others(351): Show CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCCG	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19240.hp2 HG02630.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0004 a0002c0002t0013g0005 a0002c0002t0013g0004 a0002c0002t0013g0005	2	186	0.0108	358	c.242 others(375): Show c.242-2515_242-2514insAGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCCCGACCTCCCTCCCGGAC	OSBPL9	ENSG00000117859.19	transcript	ENST00000428468.6	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
OSTN_chr3_191194241_191270615	191257227	T T	TTTACATG others(351): Show TTTACATGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0201 a0001c0001t0006g0201	1	402	0.0025	358	c.13 others(375): Show c.13-5625_*13-5624insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTTACATGCCTTTTT	OSTN	ENSG00000188729.7	transcript	ENST00000682035.1	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
PADI3_chr1_17244098_17289233	17265342	T T	TAGACAAG others(351): Show TAGACAAGAATGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCTGAGATT GCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0011 a0001c0010t0011	a0001c0010t0011g0098 a0001c0010t0011g0098	1	368	0.0027	358	c.347 others(373): Show c.347-304_347-303insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCT GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAGACAAGAATGTT	PADI3	ENSG00000142619.4	transcript	ENST00000375460.3	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PCDH15_chr10_53797771_54806231	54146907	G G	GTGTATAT others(351): Show GTGTATATATATAGTGTATATATATATAGTGTATATATATAGTGTATATA TATATAATGTATATATATAGTGTATATATATATAATGTATATATAGTGTA TATATATATAATGTATATATATAGTGTATATATATATAATGTATATATAT AGTGTATATATATATAATGTATATATATAGTGTATATATATAATGTATAT ATATAGTGTATATATATATAATGTATATATATAGTGTATATATATAATGT ATATATATAGTGTATATATATAATGTATATATATAGTGTATATATATATA TAATGTATATATATAGTGTATATATATATAATGTATATATATAGTGTATA TATATATAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0030 a0030	a0030c0036 a0030c0036	a0030c0036t0004 a0030c0036t0004	a0030c0036t0004g0061 a0030c0036t0004g0061	1	102	0.0098	358	c.178 others(377): Show c.1784+6192_1784+6193insTTATATATATATACACTATATATATA CATTATATATATATACACTATATATATACATTATATATATATATACACTA TATATATACATTATATATATACACTATATATATACATTATATATATACAC TATATATATACATTATATATATATACACTATATATATACATTATATATAT ACACTATATATATACATTATATATATATACACTATATATATACATTATAT ATATATACACTATATATATACATTATATATATATACACTATATATACATT ATATATATATACACTATATATATACATTATATATATATACACTATATATA TACACTATATATATATACACTATATATATACA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	14/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54146907	G G	GTGTATAT others(351): Show GTGTATATATATAGTGTATATATATATAGTGTATATATATAGTGTATATA TATATAATGTATATATATAGTGTATATATATATAATGTATATATAGTGTA TATATATATAATGTATATATATAGTGTATATATATATAATGTATATATAT AGTGTATATATATATAATGTATATATATAGTGTATATATATAATGTATAT ATATAGTGTATATATATATAATGTATATATATAGTGTATATATATAATGT ATATATATAGTGTATATATATAATGTATATATATAGTGTATATATATATA TAATGTATATATATAGTGTATATATATATAATGTATATATATAGTGTATA TATATATAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0025 a0025	a0025c0041 a0025c0041	a0025c0041t0002 a0025c0041t0002	a0025c0041t0002g0057 a0025c0041t0002g0057	1	94	0.0106	358	c.178 others(377): Show c.1784+6192_1784+6193insTTATATATATATACACTATATATATA CATTATATATATATACACTATATATATACATTATATATATATATACACTA TATATATACATTATATATATACACTATATATATACATTATATATATACAC TATATATATACATTATATATATATACACTATATATATACATTATATATAT ACACTATATATATACATTATATATATATACACTATATATATACATTATAT ATATATACACTATATATATACATTATATATATATACACTATATATACATT ATATATATATACACTATATATATACATTATATATATATACACTATATATA TACACTATATATATATACACTATATATATACA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	14/32			chr10	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(351): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCACC TCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCT CCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTAC CCTGCACCTCCCCCCATCTTTTACCTCCCCCTCACCCTGCACCTCCCTCT CGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCT CCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCC CCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0323 a0001c0002t0001g0323	1	360	0.0028	358	c.35 others(369): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCC CCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGC ACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCTCAC CCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATC CTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCC CCCCTCCACCTCCCCCCTCACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(351): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCCTTTCCACCTCCCCCCTCCACC TCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCT CACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACC TCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCC TGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCT GCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCC CCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02965.hp2 HG03195.hp1 HG02886.hp1 HG02965.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171	3	360	0.0083	358	c.35 others(369): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCCTTTCCA CCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCC CCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCC CCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTA CCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCC TCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCC ACCTTCCACCTCCCCCCTCACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PHLDA1_chr12_76020447_76036776	76028066	T T	TAAAAATA others(351): Show TAAAAATATAGTACTATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAAGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0121 a0001c0001t0096g0121	1	462	0.0022	358	c.20 others(369): Show c.2052_*2053insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTATTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCG GACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCATGATCC ACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCCATAGTACTATATTTTT	PHLDA1	ENSG00000139289.15	transcript	ENST00000266671.10	protein_coding	2/2	2469		chr12	TogoVar
PIP4K2A_chr10_22529854_22719578	22578645	T T	TTTGTTTA others(351): Show TTTGTTTACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC CGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCT GCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0037 a0001c0008t0037	a0001c0008t0037g0186 a0001c0008t0037g0186	1	206	0.0049	358	c.493 others(375): Show c.493-5189_493-5188insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGCAGGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAGAAATGTAAACAA	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	4/9			chr10	TogoVar
PITPNM3_chr17_6446263_6561555	6455713	G G	GGGGAGGA others(351): Show GGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGG GGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGG AAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGGAGGGGGAAGAGGGGAAG GGAGGGGAGGGGGAAGAGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGA GGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGG AAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGGAAGAG GGGATGGGA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0192 a0001c0001t0093g0192	1	218	0.0046	358	c.262 others(373): Show c.2620-71_2620-70insTCCCATCCCCTCTTCCCCCTTCCCTCCTCT CCCCTCCCCTCCTCTCCCCTTCCCCTCTTCCCCCCTTCCCCTCTTCCCCC TCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTC CCCTCCCTTCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCC CTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCT CCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCC CCTCTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTCCCCCTCCCCTCCCT TCCCCTCTTCCCCCTCCCATCTCCTCCC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGG others(351): Show GGAGGGGGAAGAGGGGAAGGGAGGGGGAGGGGGGAATAGGGGAGGGGAGA GGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGGAAGAGGGGAAGGGAGGG GAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGGAAGGGGGGGAAGAGG GGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATG GGAGGGGAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0084 a0001c0001t0005g0084	1	218	0.0046	358	c.262 others(373): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCTCCTCTCCCCTTCCCCTCTTCCCCCCCTTCCCCCT CTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCT TCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTC CCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCCTCCCTTCCCCTCTTCC CCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCC CCTCCCCTCCCCTCTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTCCCCC CTCCCCCTCCCTTCCCCTCTTCCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6561372	T T	TCCTCCTC others(351): Show TCCTCCTCCTCTTCCTCCTCCTTCTCCTCTTCCTCCTCCTAGTCCTCCTC CTCCTCCCCTCCTCCTCTTCCTCCTCCTCCTTCTCATTATCCTCCTTCTC ATTCTCTCCCTTCTCCTCCTCTTCCTTCTCCTCCTCTTCTCCTTCTTCTC CTTTTCCTCCTCCTTCTCTTCTTCCTCTTCTTCTTCCTCCTCCTCCCCTC CTTTTCCTCCTCCTCCTCTTTCTTCTCCTCTTCCTCCTCCTCCGCCCCCT CTTCCTCCTTCTCCTCATCCTCCTTCCCTCCTCTTCCTCCTTTTCCTCCT TCTCCTCCCCTCTTCCTCCTCTTCCTCCTCCTCCTCCCCTCCTCCTCCCC TCTTCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0146 a0001c0002t0011g0146	1	218	0.0046	358	c.-49 others(369): Show c.-4967_-4966insGGAGGAAGAGGGGAGGAGGAGGGGAGGAGGAGGA GGAAGAGGAGGAAGAGGGGAGGAGAAGGAGGAAAAGGAGGAAGAGGAGGG AAGGAGGATGAGGAGAAGGAGGAAGAGGGGGCGGAGGAGGAGGAAGAGGA GAAGAAAGAGGAGGAGGAGGAAAAGGAGGGGAGGAGGAGGAAGAAGAAGA GGAAGAAGAGAAGGAGGAGGAAAAGGAGAAGAAGGAGAAGAGGAGGAGAA GGAAGAGGAGGAGAAGGGAGAGAATGAGAAGGAGGATAATGAGAAGGAGG AGGAGGAAGAGGAGGAGGGGAGGAGGAGGAGGACTAGGAGGAGGAAGAGG AGAAGGAGGAGGAAGAGGAGGAGG	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4818		chr17	TogoVar
PKD1L1_chr7_47769614_47953466	47793047	T T	TAAAAAAA others(351): Show TAAAAAAAAAACTATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ACAAAACAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0040 a0008c0010t0001g0040	1	306	0.0033	358	c.835 others(375): Show c.8356-251_8356-250insTTGTTTTGTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCAATAGTTTTTTTTTT	PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	55/56			chr7	TogoVar
PKP3_chr11_389209_409908	401560	A A	ACACCCGC others(351): Show ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACA CCCGCCCCGCTCACCCCCGGCCCGCTCACACCCCGCCCCCGCTCACCCCC GGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCC CCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCC GCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTC ACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACAC CCGCCCCGCTCACCCCCGGCCCGCTCACACCCGGCCCGCTCACCCCCCGG CCCGCTCAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0214 a0001c0016t0001g0214	1	216	0.0046	358	c.173 others(375): Show c.1737+856_1737+857insACCCGCCCCGCTCACCCCCGGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACA CCCCGCCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCC CGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGG CCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCC CGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCT CACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACAC CCGGCCCGCTCACCCCCCGGCCCGCTCACC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCB1_chr20_8127266_8889900	8661960	T T	TAATTATT others(351): Show TAATTATTTATTATATAATTATATATAATTATATAATTATTTATTATATA ATTATATATAATTATATAATTATTTATTATATAATTATATATAATTATAT AATTATTTATTATATAATTATATATAATTATATAATTATTTATTATATAA TTATATATAATTATATAATTATTTATTATATAATTATATATAATTATATA ATTATTTATTATATAATTATATATAATATACAATTATTTATTATATAATT ATATATAATATACAATTATTTATTATATAATTATATATAATATACAATTA TTTATTATATAATTATATATAATATACAATTATTTATTATATAATTATAT ATAATATAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	106	0.0094	358	c.862 others(375): Show c.862+3317_862+3318insTATATAATTATTTATTATATAATTATAT ATAATTATATAATTATTTATTATATAATTATATATAATTATATAATTATT TATTATATAATTATATATAATTATATAATTATTTATTATATAATTATATA TAATTATATAATTATTTATTATATAATTATATATAATATACAATTATTTA TTATATAATTATATATAATATACAATTATTTATTATATAATTATATATAA TATACAATTATTTATTATATAATTATATATAATATACAATTATTTATTAT ATAATTATATATAATATACAATTATTTATTATATAATTATATATAATTAT ATAATTATTTATTATATAATTATATATAAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCE1_chr10_93988931_94337823	94330119	T T	TGAAAAGA others(351): Show TGAAAAGACTCGTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0030 a0003c0002t0030	a0003c0002t0030g0110 a0003c0002t0030g0110	1	118	0.0085	358	c.21 others(369): Show c.2191_*2192insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAGAAAAGACTCGTCTC	PLCE1	ENSG00000138193.17	transcript	ENST00000371380.8	protein_coding	33/33	5055	INFO_REALIGN_3_PRIME	chr10	TogoVar
PLPP1_chr5_55419854_55539964	55433460	T T	TTCAGTAA others(351): Show TTCAGTAAAGTTTTTTGTTTTTTTTTGTTTTGTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGGA CTGAGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCC ACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGCG CCCGGCCAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	294	0.0034	358	c.550 others(375): Show c.550-7422_550-7421insGTGGCCGGGCGCGGTGGCTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCTCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC AAAACAAAAAAAAACAAAAAACTTTACTGA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	4/5			chr5	TogoVar
PLPP1_chr5_55419854_55539964	55433460	T T	TTCAGTAA others(351): Show TTCAGTAAAGTTTTTTGTTTTTTTTTGTTTTTTTTTGTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGGA CTGAGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCC ACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGCG CCCGGCCAC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	294	0.0034	358	c.550 others(375): Show c.550-7422_550-7421insGTGGCCGGGCGCGGTGGCTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCTCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAA AAAACAAAAAAAAACAAAAAACTTTACTGA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	4/5			chr5	TogoVar
POGZ_chr1_151397724_151464494	151410449	T T	TGATCACA others(351): Show TGATCACACCCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCC GGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0042 a0001c0002t0002g0042	1	320	0.0031	358	c.192 others(377): Show c.1926+1175_1926+1176insGGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG ATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAGAAAAGGGTGTGATC	POGZ	ENSG00000143442.24	transcript	ENST00000271715.7	protein_coding	12/18			chr1	TogoVar
PPP1R14C_chr6_150138044_150255392	150167969	T T	TCTCCCCT others(351): Show TCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCT CCCCTTCTCTCCTCCCCCTTTCTCCCCTCCCCCTTTCTCCCCTTCTCTCC TCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCC CCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTC CTCCCCTTC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0006 a0001c0001t0009g0006	1	312	0.0032	358	c.306 others(377): Show c.306+24474_306+24475insCCCTTCTCTCCTCCCCTCTTTCTCTC CTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTCC CCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCT TTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCT CCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCC TTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCT CTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCT CCCCTTTCTCCCCTTCTCTCCTCCCCTTCCTC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP1R3A_chr7_113871777_113924009	113909427	G G	GTAATAAT others(351): Show GTAATAATAGTACCTCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA AAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCGGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA TTATAATAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0001 a0012c0011t0001	a0012c0011t0001g0165 a0012c0011t0001g0165	1	294	0.0034	358	c.782 others(375): Show c.782+8787_782+8788insTTATTATAATTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCCGGC GGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTGGAGGTACTATTATTA	PPP1R3A	ENSG00000154415.8	transcript	ENST00000284601.4	protein_coding	1/3			chr7	TogoVar
PPP2R2D_chr10_131896008_131964834	131952078	A A	ACAGTGAC others(351): Show ACAGTGACTTGCGGGTGTGCAGGGGGGTTCGCTGTCTTAGCAGTGACTTG CGGGTGTGCGGGGGGGTTCACTGTCTTAGCAGTGACTTGCGGGTGTGCAG GGGGTTTCACTGTCTTAGCAGTGACTTGCGGGTGTGCGGGGGGGTTCACT GTCTTAGCAGTGACTTGGGGGGTCCCTGTCTTAGCAGTGACTTGCGGGTG TGCGGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCGGGGGGTTCACTG TCTTAGTGATTTGCATGTGTGGGGGGGGTTCACTGTCTTAGTGACTTGCG GGTGTGCGGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCGGGGGTTCA CTGTCTTAG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02735.hp1 HG02698.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0280 a0001c0001t0005g0283 a0001c0001t0005g0280 a0001c0001t0005g0283	2	394	0.0051	358	c.108 others(377): Show c.1083-3595_1083-3238dupCGGGTGTGCAGGGGGGTTCGCTGTCT TAGCAGTGACTTGCGGGTGTGCGGGGGGGTTCACTGTCTTAGCAGTGACT TGCGGGTGTGCAGGGGGTTTCACTGTCTTAGCAGTGACTTGCGGGTGTGC GGGGGGGTTCACTGTCTTAGCAGTGACTTGGGGGGTCCCTGTCTTAGCAG TGACTTGCGGGTGTGCGGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGC GGGGGGTTCACTGTCTTAGTGATTTGCATGTGTGGGGGGGGTTCACTGTC TTAGTGACTTGCGGGTGTGCGGGGGTTCACTGTCTTAGTGACTTGCGGGT GTGCGGGGGTTCACTGTCTTAGCAGTGACTTG	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRPSAP2_chr17_18853131_18936287	18888563	A A	AGGCAGAG others(351): Show AGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCGCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCGCGGACGGGGC AGCTGGCCG	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0384 a0001c0001t0001g0384	1	392	0.0026	358	c.529 others(375): Show c.529-1159_529-1158insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCGCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCC CACCTCCCTCGCGGACGGGGCAGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCAGGGGGGCTGACCCCCCCC	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAB11FIP3_chr16_420649_528011	468218	G G	GCAGGGGC others(351): Show GCAGGGGCGTCAGGGAGGAGATGCTGGGACGTCAGGGAGGAGGTCCTTGG GCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCA GGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGG AGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGC TGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGC GTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTC AGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAG GAGGAGGTC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0044 a0001c0001t0018g0044	1	295	0.0034	358	c.809 others(375): Show c.809-3076_809-3075insAGGGGCGTCAGGGAGGAGATGCTGGGAC GTCAGGGAGGAGGTCCTTGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGG GAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAG GTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTG GGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGT CAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAG GGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGA GGTGCAGGGGCGTCAGGGAGGAGGAGGTCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP4_chr17_31386675_31543211	31515456	A A	ATATTGCC others(351): Show ATATTGCCATCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0062 a0001c0003t0062	a0001c0003t0062g0067 a0001c0003t0062g0067	1	310	0.0032	358	c.337 others(375): Show c.337-2178_337-2177insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTATTGCCATCTATTTTT	RAB11FIP4	ENSG00000131242.18	transcript	ENST00000621161.5	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RERE_chr1_8347404_8822640	8441930	T T	TCAATACA others(351): Show TCAATACACACACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCT TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACT ACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGCCACC GCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0083 a0001c0004t0005g0083	1	204	0.0049	358	c.120 others(379): Show c.1204-19124_1204-19123insGCCGGGCGCGGTGGCTCACGCCTG TAGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAGTGTGTGTATTG	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	11/22			chr1	TogoVar
RIN3_chr14_92508781_92693994	92640736	G G	GTTTGCTG others(351): Show GTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGCCTGACTGT GTGTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGCCTGACT GTGCGTTTGCTGGGAGATGCCTGACTGTGTGTTCGTCAGGGGCTGCCTGA CTGTGCGTTTGCTGGGAGATGCCTGACTGTGTGTTCGTCAGGGGCTGCCT GACTGTGCGTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGC CTGACTGCATTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGC CTGACTGCATTTGCTGGGAGATGCCTGACTGTGTGTTCGTCGGGGGCTGC CTGACTGCA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp2 HG01175.hp2 others(1): Show HG00323.hp2 HG00741.hp2 HG01175.hp2 NA20805.hp2	a0002 a0009 a0010 a0002 a0009 a0010	a0002c0002 a0009c0008 a0010c0009 a0002c0002 a0009c0008 a0010c0009	a0002c0002t0001 a0009c0008t0001 a0010c0009t0001 a0002c0002t0001 a0009c0008t0001 a0010c0009t0001	a0002c0002t0001g0300 a0009c0008t0001g0088 a0009c0008t0001g0108 others(1): Show a0002c0002t0001g0300 a0009c0008t0001g0088 a0009c0008t0001g0108 a0010c0009t0001g0090	4	334	0.0120	358	c.441 others(373): Show c.441-454_441-453insTGTGTTTGCTGGGAGATGCCTGACTGTGTG TTCATCGGGGGCTGCCTGACTGTGCGTTTGCTGGGAGATGCCTGACTGTG TGTTCGTCAGGGGCTGCCTGACTGTGCGTTTGCTGGGAGATGCCTGACTG TGTGTTCGTCAGGGGCTGCCTGACTGTGCGTTTGCTGGGAGATGCCTGAC TGTGTGTTCATCGGGGGCTGCCTGACTGCATTTGCTGGGAGATGCCTGAC TGTGTGTTCATCGGGGGCTGCCTGACTGCATTTGCTGGGAGATGCCTGAC TGTGTGTTCGTCGGGGGCTGCCTGACTGCATTTGCTGGGAGATGCCTGAC TGTGTGTTCATCGGGGGCTGCCTGACTG	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(351): Show AATATATATATTTAAATATATATATTTTTAAATATGTATATTTAAATTAT ATAATTTAAATATATATTAATATACATATTTTAATATATATAATTTAATA TATATCTTTAAATATATATATTAATATATATTTTATATATTAATATATAT ATTTAAAGATATATATTAAATTATATATATTAAAATATGTATATTAATAT ATATTTAAATTATATAATTTAAATATACATATTTAAAAATATATATATTT AAATATATATATTTTTAATATATATATTTTTAAATATATATATATTTATA TATATATTTTTAAATATATATATATTTATATATATATTTTTAAATATATA TATATATTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03130.hp2 HG02630.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0213 a0001c0002t0001g0222 a0001c0002t0001g0213 a0001c0002t0001g0222	2	408	0.0049	358	c.182 others(375): Show c.182-2703_182-2702insTATATATATTTTTAAATATGTATATTTA AATTATATAATTTAAATATATATTAATATACATATTTTAATATATATAAT TTAATATATATCTTTAAATATATATATTAATATATATTTTATATATTAAT ATATATATTTAAAGATATATATTAAATTATATATATTAAAATATGTATAT TAATATATATTTAAATTATATAATTTAAATATACATATTTAAAAATATAT ATATTTAAATATATATATTTTTAATATATATATTTTTAAATATATATATA TTTATATATATATTTTTAAATATATATATATTTATATATATATTTTTAAA TATATATATATATTTATATATATATTTAAA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF223_chr1_1065967_1079306	1077001	G G	GGAGGCTG others(351): Show GGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGA CTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGTGGCTGAG GCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGG GGTGGCTGAGGCTATGGGGACTCCGTGGGGGGTGGCTGAGGCTATGGGGA CTCCGTGGGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAG GCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCGG GGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGA CTCCGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0051 a0001c0001t0022g0051	1	324	0.0031	358	c.-29 others(369): Show c.-2996_-2995insGGCACGGAGTCCCCATAGCCTCAGCCTCCCCGCA CGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAGCCTCAG CCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCC ATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCCTCAGCCACCCCCCA CGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCCTCAG CCTCCCCCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCC ATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCA CGGAGTCCCCATAGCCTCAGCCTC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2696		chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289111	T T	TCCCGTGT others(351): Show TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0020 a0020	a0020c0030 a0020c0030	a0020c0030t0002 a0020c0030t0002	a0020c0030t0002g0103 a0020c0030t0002g0103	1	290	0.0035	358	c.166 others(377): Show c.1662+1082_1662+1083insTCTGCCCCGTCCCCCGTGTCTCTGCC CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTC TGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCC CGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCC GTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTC TCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289219	T T	TCCGTCCC others(351): Show TCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0006 a0001c0036t0006	a0001c0036t0006g0123 a0001c0036t0006g0123	1	290	0.0035	358	c.166 others(377): Show c.1663-1045_1663-1044insGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289263	C C	CCCCGTGT others(351): Show CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGT CTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCCCGAGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCC CTGCCCCGT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0038 a0002c0003t0002g0038	1	290	0.0035	358	c.166 others(376): Show c.1663-1000_1663-999insTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTCCCCCGAGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCCCCGTCCCCCGAGTCTCTGCCCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC CCCGTCCCGTGTCCCTGCCCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results