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
ODF3L2_chr19_458361_479983	473750	CCCAGGCA others(78): Show CCCAGGCAGAGATACACGATCACAGATGGGGAGACTGAGGCCTGAGCCTC CCAGAGATACACGGTCACAGATGGGGAAACTGAGGG	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01934.hp1 NA18941.hp1 others(6): Show HG01071.hp2 HG01934.hp1 NA18941.hp1 NA18948.hp2 NA18952.hp1 NA18991.hp1 NA18994.hp2 NA19000.hp1 NA19077.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0017 a0001c0001 a0008c0017	a0001c0001t0001 a0008c0017t0001 a0001c0001t0001 a0008c0017t0001	a0001c0001t0001g0024 a0001c0001t0001g0045 a0001c0001t0001g0149 others(3): Show a0001c0001t0001g0024 a0001c0001t0001g0045 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0008c0017t0001g0049	9	324	0.0278	-85	c.127 others(100): Show c.127+786_127+870delCCCTCAGTTTCCCCATCTGTGACCGTGTAT CTCTGGGAGGCTCAGGCCTCAGTCTCCCCATCTGTGATCGTGTATCTCTG CCTGG	ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding	1/3			chr19	TogoVar
OR4A15_chr11_55362974_55373918	55365367	GGATTCAC others(78): Show GGATTCACTTTTTTGAGTATTTCTTAATTATTTACTTGTTCTCATTGATA TTTTGTAAAAATTGTTACTCTGGGATACCTATCACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	458	0.0022	-85	c.-26 others(96): Show c.-2606_-2522delGATTCACTTTTTTGAGTATTTCTTAATTATTTAC TTGTTCTCATTGATATTTTGTAAAAATTGTTACTCTGGGATACCTATCAC A	OR4A15	ENSG00000181958.5	transcript	ENST00000641526.1	protein_coding		2606		chr11	TogoVar
OTUD7A_chr15_31470398_31875673	31511193	CATATGTA others(78): Show CATATGTATATCTATATGTAACACACATACATATGTATATCTATATGTAA CACACATACATATGTATATCTATATGTAACACACAT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0017 a0001c0001t0083g0017	1	244	0.0041	-85	c.894 others(102): Show c.894-7460_894-7376delATGTGTGTTACATATAGATATACATATG TATGTGTGTTACATATAGATATACATATGTATGTGTGTTACATATAGATA TACATAT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
P2RY12_chr3_151331843_151389753	151368614	TATTTTAT others(78): Show TATTTTATTTTATTTTATTTCATTTCATTTCATTTCATTTCATTTCATTT CATTTCATTTCATGTCATTTCATTTTATTTCATTTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02056.hp1 NA18950.hp2 others(3): Show HG00408.hp2 HG02056.hp1 NA18950.hp2 NA18994.hp2 NA19002.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0136 a0001c0001t0001g0227 others(2): Show a0001c0001t0001g0015 a0001c0001t0001g0136 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0271	6	396	0.0152	-85	c.-18 others(106): Show c.-180+15993_-180+16077delGAAATGAAATAAAATGAAATGACA TGAAATGAAATGAAATGAAATGAAATGAAATGAAATGAAATGAAATAAAA TAAAATAAAAT	P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2			chr3	TogoVar
P2RY12_chr3_151331843_151389753	151368619	TATTTTAT others(78): Show TATTTTATTTTATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTT CATTTCATGTCATTTCATTTTATTTCATTTCATTTC	T T	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0183 a0001c0001t0009g0183	1	396	0.0025	-85	c.-18 others(106): Show c.-180+15988_-180+16072delGAAATGAAATGAAATAAAATGAAA TGACATGAAATGAAATGAAATGAAATGAAATGAAATGAAATGAAATGAAA TAAAATAAAAT	P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2			chr3	TogoVar
P2RY12_chr3_151331843_151389753	151368629	TATTTCAT others(78): Show TATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATGT CATTTCATTTTATTTCATTTCATTTCATTTCATTTC	T T	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0196 a0001c0001t0014g0196	1	396	0.0025	-85	c.-18 others(106): Show c.-180+15978_-180+16062delGAAATGAAATGAAATGAAATGAAA TAAAATGAAATGACATGAAATGAAATGAAATGAAATGAAATGAAATGAAA TGAAATGAAAT	P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2			chr3	TogoVar
PALS2_chr7_24568452_24699193	24584039	ATTTTCTT others(78): Show ATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGT CTTTGCTATTATGAATAATGCCGCAATAAACATACG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00609.hp1 others(19): Show HG00438.hp1 HG00544.hp2 HG00609.hp1 HG01496.hp1 HG02109.hp2 NA18747.hp1 NA18943.hp1 NA18945.hp2 NA18954.hp1 NA18956.hp2 NA18957.hp2 NA18964.hp2 NA18980.hp1 NA18984.hp2 NA18988.hp1 NA18999.hp1 NA19009.hp1 NA19060.hp2 NA19062.hp1 NA19077.hp1 NA19081.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 others(9): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0029 a0001c0001t0030 a0001c0001t0084 a0001c0001t0096 a0001c0001t0102 a0001c0001t0129 a0001c0001t0133 a0001c0002t0010	a0001c0001t0008g0014 a0001c0001t0009g0015 a0001c0001t0009g0022 others(19): Show a0001c0001t0008g0014 a0001c0001t0009g0015 a0001c0001t0009g0022 a0001c0001t0009g0027 a0001c0001t0010g0020 a0001c0001t0010g0021 a0001c0001t0010g0023 a0001c0001t0010g0025 a0001c0001t0014g0016 a0001c0001t0014g0028 a0001c0001t0014g0030 a0001c0001t0014g0032 a0001c0001t0029g0018 a0001c0001t0029g0019 a0001c0001t0029g0024 a0001c0001t0030g0012 a0001c0001t0084g0026 a0001c0001t0096g0031 a0001c0001t0102g0017 a0001c0001t0129g0010 a0001c0001t0133g0029 a0001c0002t0010g0013	22	378	0.0582	-85	c.-3+ others(102): Show c.-3+10448_-3+10532delTTTCTTAATCCAGTCTATCATTGTTGGA CATTTGGGTTGGTTCCAAGTCTTTGCTATTATGAATAATGCCGCAATAAA CATACGT	PALS2	ENSG00000105926.16	transcript	ENST00000222644.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
PCBP3_chr21_45638725_45947450	45909768	CCCACCCA others(78): Show CCCACCCACTGCCCAGATACGGACCCCCCCCCCACCCACTGCCCAGATAC GGACCCGGCCCACCCACTGCCCAGATACGGACCTGG	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02970.hp2 HG03453.hp1 others(1): Show HG02630.hp2 HG02970.hp2 HG03453.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 others(1): Show a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214	4	292	0.0137	-85	c.471 others(100): Show c.471+308_471+392delCCCCCCCACCCACTGCCCAGATACGGACCC GGCCCACCCACTGCCCAGATACGGACCTGGCCACCCACTGCCCAGATACG GACCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCGF3_chr4_700832_775089	736765	ACGGTGTC others(78): Show ACGGTGTCCCCTGAGCGCACGGGACGCGGGAAACCTGGGGTGTCTGCAGG GACAGTGTCGCGGGGAACCTGGGGTGTCTGCAGGGG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03704.hp1 HG01167.hp1 HG03704.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0003 a0001c0001t0004 a0002c0002t0003	a0001c0001t0004g0015 a0002c0002t0003g0038 a0001c0001t0004g0015 a0002c0002t0003g0038	2	366	0.0055	-85	c.207 others(100): Show c.207-671_207-587delAAACCTGGGGTGTCTGCAGGGACAGTGTCG CGGGGAACCTGGGGTGTCTGCAGGGGCGGTGTCCCCTGAGCGCACGGGAC GCGGG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCMT1_chr6_149744741_149816419	149762610	GATATATA others(78): Show GATATATATATATCTATGATATATATATATCTATGATATATATATGATAT ATATATCTATGATATATATATATCTATGATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	334	0.0030	-85	c.56- others(100): Show c.56-8547_56-8463delATATATATCTATGATATATATATATCTATG ATATATATATGATATATATATCTATGATATATATATATCTATGATATATA TATAT	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDC_chr1_186438566_186466114	186464115	ATGGCAAG others(78): Show ATGGCAAGGTTATGTGATCTACATAGGGCTCCCTTTCAGTAGGGGCTGGG GAACTTTTAGTAATAAAGGGTGTAAATGAAGCAGGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	404	0.0025	-85	c.-31 others(96): Show c.-3166_-3082delGCCTGCTTCATTTACACCCTTTATTACTAAAAGT TCCCCAGCCCCTACTGAAAGGGAGCCCTATGTAGATCACATAACCTTGCC A	PDC	ENSG00000116703.14	transcript	ENST00000391997.3	protein_coding		3002		chr1	TogoVar
PERM1_chr1_970198_987093	977753	CCCCACCA others(78): Show CCCCACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCGGGAACTG CCTCCCACCCCCACCAACCCCGGGAACCGCCTCCCA	C C	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA19030.hp1 NA19043.hp2 NA18954.hp2 NA19030.hp1 NA19043.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0015 a0001c0001 a0011c0015	a0001c0001t0003 a0011c0015t0002 a0001c0001t0003 a0011c0015t0002	a0001c0001t0003g0027 a0011c0015t0002g0200 a0001c0001t0003g0027 a0011c0015t0002g0200	3	408	0.0074	-85	c.214 others(104): Show c.2149+1043_2149+1127delTGGGAGGCGGTTCCCGGGGTTGGTGG GGGTGGGAGGCAGTTCCCGGGGTTGGGGGGATTGGGAGGCGGTTCCCGGG GTTGGTGGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977755	CCACCAAC others(78): Show CCACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCGGGAACTGCC TCCCACCCCCACCAACCCCGGGAACCGCCTCCCAAT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01255.hp1 HG01358.hp1 others(11): Show HG01192.hp1 HG01255.hp1 HG01358.hp1 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02273.hp2 NA18960.hp1 NA18964.hp1 NA18967.hp2 NA18971.hp1 NA18998.hp2 NA19068.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0152 a0001c0001t0002g0008 a0001c0001t0002g0106 others(4): Show a0001c0001t0001g0152 a0001c0001t0002g0008 a0001c0001t0002g0106 a0001c0001t0003g0001 a0001c0001t0003g0016 a0001c0001t0003g0029 a0001c0001t0003g0109	14	408	0.0343	-85	c.214 others(104): Show c.2149+1041_2149+1125delATTGGGAGGCGGTTCCCGGGGTTGGT GGGGGTGGGAGGCAGTTCCCGGGGTTGGGGGGATTGGGAGGCGGTTCCCG GGGTTGGTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PIEZO1_chr16_88710338_88790220	88728430	TCACAGCC others(78): Show TCACAGCCCCATCTGCCACAGAGGGAACCTCGCGACCCAAAAGCAAAGTG ACCCTCGATGCTGGGGAACCCAGGACATGCTGAACC	T T	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0013 a0013	a0013c0038 a0013c0038	a0013c0038t0001 a0013c0038t0001	a0013c0038t0001g0151 a0013c0038t0001g0151	1	282	0.0036	-85	c.319 others(102): Show c.3197-854_3197-770delGGTTCAGCATGTCCTGGGTTCCCCAGCA TCGAGGGTCACTTTGCTTTTGGGTCGCGAGGTTCCCTCTGTGGCAGATGG GGCTGTG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	22/50			chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88728513	ACCCACAG others(78): Show ACCCACAGCCCCATCTGCCACAGAGGGAACCTCGCGACCCAAAAACAAAG TGACCCTCGATGTTGGGGAACCCAGGACATGCTGAT	A A	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA20129.hp2 HG02155.hp1 NA20129.hp2	a0012 a0012	a0012c0066 a0012c0139 a0012c0066 a0012c0139	a0012c0066t0001 a0012c0139t0001 a0012c0066t0001 a0012c0139t0001	a0012c0066t0001g0054 a0012c0139t0001g0251 a0012c0066t0001g0054 a0012c0139t0001g0251	2	282	0.0071	-85	c.319 others(102): Show c.3197-937_3197-853delATCAGCATGTCCTGGGTTCCCCAACATC GAGGGTCACTTTGTTTTTGGGTCGCGAGGTTCCCTCTGTGGCAGATGGGG CTGTGGG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	22/50			chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88728551	CCAAAAAC others(78): Show CCAAAAACAAAGTGACCCTCGATGTTGGGGAACCCAGGACATGCTGATCT CACAGCCCCATCTGCCACAGAGGGAACCTCGCGACA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02818.hp1 HG02486.hp2 HG02818.hp1	a0002 a0070 a0002 a0070	a0002c0031 a0070c0073 a0002c0031 a0070c0073	a0002c0031t0020 a0070c0073t0001 a0002c0031t0020 a0070c0073t0001	a0002c0031t0020g0124 a0070c0073t0001g0128 a0002c0031t0020g0124 a0070c0073t0001g0128	2	282	0.0071	-85	c.319 others(102): Show c.3197-975_3197-891delTGTCGCGAGGTTCCCTCTGTGGCAGATG GGGCTGTGAGATCAGCATGTCCTGGGTTCCCCAACATCGAGGGTCACTTT GTTTTTG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	22/50			chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88728915	CTGGGGAA others(78): Show CTGGGGAACCCAGGACATGCTGAACTCACAGCCCCATCTGCCACAGAGGG AACCTCGCGACCCAAAAACAAAGTGACCCTCGATGT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03195.hp2 HG03225.hp2 others(1): Show HG01243.hp1 HG03195.hp2 HG03225.hp2 HG03516.hp2	a0003 a0021 a0077 a0003 a0021 a0077	a0003c0006 a0021c0037 a0077c0155 a0003c0006 a0021c0037 a0077c0155	a0003c0006t0010 a0021c0037t0001 a0077c0155t0001 a0003c0006t0010 a0021c0037t0001 a0077c0155t0001	a0003c0006t0010g0002 a0021c0037t0001g0185 a0021c0037t0001g0193 others(1): Show a0003c0006t0010g0002 a0021c0037t0001g0185 a0021c0037t0001g0193 a0077c0155t0001g0184	4	282	0.0142	-85	c.319 others(104): Show c.3197-1339_3197-1255delACATCGAGGGTCACTTTGTTTTTGGG TCGCGAGGTTCCCTCTGTGGCAGATGGGGCTGTGAGTTCAGCATGTCCTG GGTTCCCCA	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	22/50			chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88729657	CCAAAAAC others(78): Show CCAAAAACAAAGTGACCCTCGATGCTGGGGAACCCAGGACATGCTGAACC CACAGCCCCATCTGCCACAGAGGGAACCTCGCGACA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp2 HG02818.hp1 HG01884.hp2 HG02486.hp2 HG02818.hp1	a0002 a0051 a0070 a0002 a0051 a0070	a0002c0031 a0051c0092 a0070c0073 a0002c0031 a0051c0092 a0070c0073	a0002c0031t0020 a0051c0092t0003 a0070c0073t0001 a0002c0031t0020 a0051c0092t0003 a0070c0073t0001	a0002c0031t0020g0124 a0051c0092t0003g0012 a0070c0073t0001g0128 a0002c0031t0020g0124 a0051c0092t0003g0012 a0070c0073t0001g0128	3	282	0.0106	-85	c.319 others(104): Show c.3196+1964_3197-1997delTGTCGCGAGGTTCCCTCTGTGGCAGA TGGGGCTGTGGGTTCAGCATGTCCTGGGTTCCCCAGCATCGAGGGTCACT TTGTTTTTG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	22/50			chr16	TogoVar
PIGK_chr1_77083989_77224430	77169524	TTGAAGGC others(78): Show TTGAAGGCAATTTAATTATTTTTTTCATATCCTTGTGTACTATATATTTT AAAGTAGAGAAATTAGTGCAATCTGGCATAAAGTTA	T T	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0194 a0001c0001t0005g0194	1	366	0.0027	-85	c.240 others(100): Show c.240-214_240-130delTAACTTTATGCCAGATTGCACTAATTTCTC TACTTTAAAATATATAGTACACAAGGATATGAAAAAAATAATTAAATTGC CTTCA	PIGK	ENSG00000142892.15	transcript	ENST00000370812.8	protein_coding	3/10			chr1	TogoVar
PKP3_chr11_389209_409908	390478	CGTCCTGA others(78): Show CGTCCTGAGGCCAGACCCCAGGAGAACCCCCGGGAGATGCCCCGCCTGCC TCAGACAGACGCCCCCTTCCCCAGAGGAGCGCCGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG02027.hp1 HG02109.hp2 others(12): Show HG00642.hp2 HG02027.hp1 HG02109.hp2 HG02683.hp1 HG02735.hp1 HG02922.hp2 HG02976.hp1 HG04204.hp2 NA18966.hp2 NA18994.hp2 NA18995.hp1 NA19005.hp1 NA19030.hp1 NA19067.hp2 NA21309.hp2	a0001 a0011 a0017 a0001 a0011 a0017	a0001c0001 a0001c0002 a0001c0008 others(3): Show a0001c0001 a0001c0002 a0001c0008 a0001c0032 a0011c0029 a0017c0040	a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 a0001c0032t0001 a0011c0029t0001 a0017c0040t0001	a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0002t0001g0107 others(12): Show a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0002t0001g0107 a0001c0002t0001g0112 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0008t0001g0104 a0001c0008t0001g0128 a0001c0008t0001g0129 a0001c0008t0001g0130 a0001c0032t0001g0123 a0011c0029t0001g0127 a0017c0040t0001g0163	15	216	0.0694	-85	c.-38 others(96): Show c.-3814_-3730delGTCCTGAGGCCAGACCCCAGGAGAACCCCCGGGA GATGCCCCGCCTGCCTCAGACAGACGCCCCCTTCCCCAGAGGAGCGCCGG G	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding		3730		chr11	TogoVar
PKP3_chr11_389209_409908	402198	CCCCCGGC others(78): Show CCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCC CCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGA	C C	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	216	0.0046	-85	c.173 others(102): Show c.1738-872_1738-788delTCCACTGACCCCGGCCCCGCTCACCCCG GACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGA CCCCGGC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	402431	CCCCCGGC others(78): Show CCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCC CCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02056.hp2 HG02717.hp1 others(3): Show HG00733.hp2 HG02056.hp2 HG02717.hp1 HG02897.hp1 HG03834.hp2 NA18995.hp1	a0001 a0012 a0001 a0012	a0001c0007 a0001c0032 a0012c0030 a0001c0007 a0001c0032 a0012c0030	a0001c0007t0001 a0001c0032t0001 a0012c0030t0001 a0001c0007t0001 a0001c0032t0001 a0012c0030t0001	a0001c0007t0001g0003 a0001c0007t0001g0004 a0001c0007t0001g0021 others(3): Show a0001c0007t0001g0003 a0001c0007t0001g0004 a0001c0007t0001g0021 a0001c0007t0001g0213 a0001c0032t0001g0123 a0012c0030t0001g0126	6	216	0.0278	-85	c.173 others(102): Show c.1738-639_1738-555delTCCACTGACCCCGGCCCCGCTCACCCCG GACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGA CCCCGGC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCB3_chr11_64246530_64272923	64271136	TCACACAC others(78): Show TCACACACACACACACACACACACACACCTGGAGTGGGATCTAGACTACA GATCCCAGCATGCCCTGTGACTCACACACACACACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG03139.hp2 NA19043.hp1 HG01934.hp2 HG03139.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0003g0107 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0003g0107	3	382	0.0079	-85	c.35 others(96): Show c.3581_*3665delCACACACACACACACACACACACACACCTGGAGT GGGATCTAGACTACAGATCCCAGCATGCCCTGTGACTCACACACACACAC A	PLCB3	ENSG00000149782.13	transcript	ENST00000279230.12	protein_coding		3214		chr11	TogoVar
PLCL1_chr2_197799593_198154863	197866074	ATATATAT others(78): Show ATATATATATATATAAACTATATATATATATAAACTATATATATATATAA ACTATATATATATATAAACTATATATATATATAAAC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00408.hp2 others(115): Show HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01106.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01978.hp2 HG02027.hp2 HG02040.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02615.hp1 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03491.hp1 HG03710.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18950.hp2 NA18951.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19002.hp2 NA19005.hp1 NA19030.hp1 NA19030.hp2 NA19056.hp2 NA19062.hp2 NA19066.hp2 NA19077.hp1 NA19079.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0002c0002 a0002c0007 a0002c0008 a0002c0009	a0001c0001t0010 a0001c0003t0002 a0001c0003t0006 others(36): Show a0001c0001t0010 a0001c0003t0002 a0001c0003t0006 a0001c0003t0019 a0001c0003t0020 a0001c0003t0026 a0001c0003t0027 a0001c0003t0044 a0001c0003t0045 a0001c0003t0046 a0001c0003t0048 a0001c0003t0049 a0001c0003t0050 a0001c0004t0001 a0001c0004t0003 a0001c0004t0005 a0001c0004t0013 a0001c0004t0025 a0001c0004t0030 a0001c0004t0043 a0001c0005t0001 a0001c0005t0010 a0001c0005t0013 a0001c0005t0025 a0001c0006t0009 a0001c0006t0016 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0008 a0002c0002t0009 a0002c0002t0011 a0002c0002t0013 a0002c0002t0031 a0002c0002t0032 a0002c0002t0033 a0002c0007t0006 a0002c0008t0001 a0002c0009t0008	a0001c0001t0010g0204 a0001c0003t0002g0006 a0001c0003t0002g0007 others(115): Show a0001c0001t0010g0204 a0001c0003t0002g0006 a0001c0003t0002g0007 a0001c0003t0002g0008 a0001c0003t0002g0013 a0001c0003t0002g0016 a0001c0003t0002g0018 a0001c0003t0002g0023 a0001c0003t0002g0025 a0001c0003t0002g0028 a0001c0003t0002g0031 a0001c0003t0002g0033 a0001c0003t0002g0034 a0001c0003t0002g0035 a0001c0003t0002g0036 a0001c0003t0002g0037 a0001c0003t0002g0039 a0001c0003t0002g0040 a0001c0003t0002g0041 a0001c0003t0002g0042 a0001c0003t0002g0137 a0001c0003t0002g0138 a0001c0003t0006g0010 a0001c0003t0006g0014 a0001c0003t0006g0015 a0001c0003t0006g0019 a0001c0003t0006g0021 a0001c0003t0006g0022 a0001c0003t0006g0024 a0001c0003t0006g0027 a0001c0003t0006g0043 a0001c0003t0006g0044 a0001c0003t0006g0045 a0001c0003t0019g0026 a0001c0003t0019g0030 a0001c0003t0019g0038 a0001c0003t0020g0002 a0001c0003t0026g0009 a0001c0003t0026g0020 a0001c0003t0027g0029 a0001c0003t0027g0032 a0001c0003t0044g0051 a0001c0003t0045g0011 a0001c0003t0046g0005 a0001c0003t0048g0046 a0001c0003t0049g0004 a0001c0003t0050g0017 a0001c0004t0001g0119 a0001c0004t0001g0134 a0001c0004t0003g0081 a0001c0004t0005g0059 a0001c0004t0013g0080 a0001c0004t0013g0095 a0001c0004t0025g0122 a0001c0004t0030g0061 a0001c0004t0043g0120 a0001c0005t0001g0064 a0001c0005t0001g0065 a0001c0005t0001g0066 a0001c0005t0001g0067 a0001c0005t0010g0117 a0001c0005t0010g0118 a0001c0005t0010g0135 a0001c0005t0013g0068 a0001c0005t0025g0121 a0001c0006t0009g0050 a0001c0006t0016g0053 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0072 a0002c0002t0001g0082 a0002c0002t0001g0086 a0002c0002t0001g0092 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0102 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0113 a0002c0002t0001g0115 a0002c0002t0001g0139 a0002c0002t0003g0077 a0002c0002t0003g0078 a0002c0002t0003g0079 a0002c0002t0003g0089 a0002c0002t0003g0090 a0002c0002t0003g0099 a0002c0002t0003g0103 a0002c0002t0003g0104 a0002c0002t0003g0105 a0002c0002t0003g0106 a0002c0002t0003g0107 a0002c0002t0003g0123 a0002c0002t0005g0063 a0002c0002t0005g0083 a0002c0002t0005g0094 a0002c0002t0005g0132 a0002c0002t0005g0136 a0002c0002t0008g0058 a0002c0002t0008g0076 a0002c0002t0008g0091 a0002c0002t0008g0111 a0002c0002t0008g0125 a0002c0002t0009g0116 a0002c0002t0009g0130 a0002c0002t0009g0131 a0002c0002t0011g0088 a0002c0002t0011g0093 a0002c0002t0011g0100 a0002c0002t0011g0112 a0002c0002t0013g0108 a0002c0002t0031g0101 a0002c0002t0032g0124 a0002c0002t0033g0060 a0002c0007t0006g0012 a0002c0008t0001g0075 a0002c0009t0008g0085	118	204	0.5784	-85	c.240 others(104): Show c.240+60784_240+60868delAACTATATATATATATAAACTATATA TATATATAAACTATATATATATATAAACTATATATATATATAAACTATAT ATATATATA	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLEKHN1_chr1_961482_980865	977753	CCCCACCA others(78): Show CCCCACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCGGGAACTG CCTCCCACCCCCACCAACCCCGGGAACCGCCTCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 NA18954.hp1 NA19043.hp2 HG03516.hp1 NA18954.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0012 a0002c0017 a0002c0045 a0001c0012 a0002c0017 a0002c0045	a0001c0012t0003 a0002c0017t0006 a0002c0045t0003 a0001c0012t0003 a0002c0017t0006 a0002c0045t0003	a0001c0012t0003g0026 a0002c0017t0006g0005 a0002c0045t0003g0093 a0001c0012t0003g0026 a0002c0017t0006g0005 a0002c0045t0003g0093	3	422	0.0071	-85	c.31 others(96): Show c.3179_*3263delCCCACCAACCCCGGGAACCGCCTCCCAATCCCCC CAACCCCGGGAACTGCCTCCCACCCCCACCAACCCCGGGAACCGCCTCCC A	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1889		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977755	CCACCAAC others(78): Show CCACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCGGGAACTGCC TCCCACCCCCACCAACCCCGGGAACCGCCTCCCAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01358.hp1 HG01516.hp2 others(17): Show HG01123.hp1 HG01358.hp1 HG01516.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02273.hp1 HG02300.hp2 HG03579.hp1 NA18967.hp2 NA18983.hp2 NA18988.hp2 NA18995.hp1 NA19010.hp2 NA19057.hp2 NA19065.hp2 NA19066.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp2	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0018	a0001c0001 a0001c0012 a0001c0018 others(4): Show a0001c0001 a0001c0012 a0001c0018 a0004c0004 a0004c0030 a0006c0013 a0018c0055	a0001c0001t0001 a0001c0001t0007 a0001c0012t0003 others(5): Show a0001c0001t0001 a0001c0001t0007 a0001c0012t0003 a0001c0018t0003 a0004c0004t0003 a0004c0030t0012 a0006c0013t0007 a0018c0055t0008	a0001c0001t0001g0058 a0001c0001t0007g0022 a0001c0012t0003g0033 others(8): Show a0001c0001t0001g0058 a0001c0001t0007g0022 a0001c0012t0003g0033 a0001c0018t0003g0013 a0004c0004t0003g0002 a0004c0004t0003g0020 a0004c0004t0003g0152 a0004c0004t0003g0164 a0004c0030t0012g0039 a0006c0013t0007g0002 a0018c0055t0008g0127	20	422	0.0474	-85	c.31 others(96): Show c.3181_*3265delCACCAACCCCGGGAACCGCCTCCCAATCCCCCCA ACCCCGGGAACTGCCTCCCACCCCCACCAACCCCGGGAACCGCCTCCCAA T	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1891		chr1	TogoVar
PLIN5_chr19_4517531_4540224	4525857	CACGGGGA others(78): Show CACGGGGACAGGATACGGGGACAGCACGGGGACAGGATACGGGGACAGCA CGGGGACAGGATACGGGGACAGCACGGGGACAGGAT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp1 HG02818.hp2 others(2): Show HG02572.hp1 HG02647.hp1 HG02818.hp2 HG02922.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0055 a0001c0001t0003g0068 a0001c0001t0003g0229 others(1): Show a0001c0001t0003g0055 a0001c0001t0003g0068 a0001c0001t0003g0229 a0001c0001t0009g0230	5	412	0.0121	-85	c.521 others(99): Show c.521-110_521-26delATCCTGTCCCCGTGCTGTCCCCGTATCCTGT CCCCGTGCTGTCCCCGTATCCTGTCCCCGTGCTGTCCCCGTATCCTGTCC CCGT	PLIN5	ENSG00000214456.8	transcript	ENST00000381848.7	protein_coding	5/7			chr19	TogoVar
PLXNA4_chr7_132118340_132581470	132132417	GTTCTGTT others(78): Show GTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCT GCTCTGCTCTGCTCTGCTCTGCTCTATTCTTTTCTA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0067 a0001c0003t0002g0067	1	88	0.0114	-85	c.558 others(102): Show c.5589+547_5589+631delTAGAAAAGAATAGAGCAGAGCAGAGCAG AGCAGAGCAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAACAG AACAGAA	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	31/31			chr7	TogoVar
PNPLA7_chr9_137454952_137555402	137494655	GCCCTCAC others(78): Show GCCCTCACCTGTGCCCTGCCCTCACCTGCTCCATGACCTCATCCACTCTG TGCCTTCACCTGCTCTGCGCCCTCACCAGCTCCGCA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	188	0.0053	-85	c.212 others(102): Show c.2127+293_2127+377delTGCGGAGCTGGTGAGGGCGCAGAGCAGG TGAAGGCACAGAGTGGATGAGGTCATGGAGCAGGTGAGGGCAGGGCACAG GTGAGGG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	19/34			chr9	TogoVar
POMGNT2_chr3_43074234_43111079	43100111	TACACTCT others(78): Show TACACTCTTACCCAGATTCACCAACTGCTAATTTGACATCTTTGTTTAAT CATTCTCTCTATATGCAGTCAGCCCTCTATATCTGC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03139.hp1 HG06807.hp2 others(1): Show HG02717.hp1 HG03139.hp1 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0037 a0001c0002t0001g0052 a0001c0002t0001g0055 a0001c0001t0001g0037 a0001c0002t0001g0052 a0001c0002t0001g0055	4	378	0.0106	-85	c.-10 others(104): Show c.-106+5640_-106+5724delGCAGATATAGAGGGCTGACTGCATAT AGAGAGAATGATTAAACAAAGATGTCAAATTAGCAGTTGGTGAATCTGGG TAAGAGTGT	POMGNT2	ENSG00000144647.7	transcript	ENST00000344697.3	protein_coding	1/1			chr3	TogoVar
POMT2_chr14_77269956_77325883	77277923	CGAGAGCT others(78): Show CGAGAGCTCTTCCGGCAGGGGGCCACAGTGACTAAAGAGGGGTGCCCTGT CCCCCATTGCCCCCCGGTTCCCCCCTCCCTCACCCG	C C	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	398	0.0025	-85	c.214 others(102): Show c.2147+386_2148-443delCGGGTGAGGGAGGGGGGAACCGGGGGGC AATGGGGGACAGGGCACCCCTCTTTAGTCACTGTGGCCCCCTGCCGGAAG AGCTCTC	POMT2	ENSG00000009830.13	transcript	ENST00000261534.9	protein_coding	20/20			chr14	TogoVar
PPARG_chr3_12284070_12439344	12309745	TCAGACAA others(78): Show TCAGACAAGTTAGTCTGAGTAAACTGCCCTTGGCCTGCCTTATTATTTAC TTAGGTTCTGGTAAAAATCCCATCCCAGATGTAAAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	294	0.0034	-85	c.-82 others(102): Show c.-82-2634_-82-2550delCAGACAAGTTAGTCTGAGTAAACTGCCC TTGGCCTGCCTTATTATTTACTTAGGTTCTGGTAAAAATCCCATCCCAGA TGTAAAA	PPARG	ENSG00000132170.24	transcript	ENST00000651735.1	protein_coding	1/7			chr3	TogoVar
PRKCZ_chr1_2045411_2190395	2142322	CAGCAGCC others(78): Show CAGCAGCCGAAGCGCCTCCTTTCAATCCAGGGTCCACACATCCAGCAGCC GAAGCGCCCTCCTTTCAATCCAGGGTCCAGGCATCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(127): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01123.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01517.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02622.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18954.hp2 NA18956.hp2 NA18961.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18993.hp1 NA18997.hp1 NA18997.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19055.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0010 a0001c0003t0014 a0001c0003t0018 a0001c0006t0001 a0002c0005t0016	a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 others(127): Show a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0178 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0239 a0001c0001t0001g0244 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0002g0002 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0004g0079 a0001c0001t0012g0058 a0001c0001t0013g0151 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0143 a0001c0002t0001g0166 a0001c0002t0001g0203 a0001c0002t0001g0205 a0001c0002t0001g0211 a0001c0002t0001g0220 a0001c0002t0001g0225 a0001c0002t0001g0233 a0001c0002t0001g0245 a0001c0002t0001g0247 a0001c0002t0001g0267 a0001c0002t0001g0276 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0035 a0001c0002t0002g0041 a0001c0002t0002g0043 a0001c0002t0004g0144 a0001c0003t0001g0001 a0001c0003t0001g0059 a0001c0003t0001g0062 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0084 a0001c0003t0001g0088 a0001c0003t0001g0110 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0128 a0001c0003t0001g0130 a0001c0003t0001g0132 a0001c0003t0001g0133 a0001c0003t0001g0136 a0001c0003t0001g0138 a0001c0003t0001g0141 a0001c0003t0001g0147 a0001c0003t0001g0196 a0001c0003t0001g0227 a0001c0003t0001g0250 a0001c0003t0001g0255 a0001c0003t0001g0258 a0001c0003t0001g0262 a0001c0003t0001g0263 a0001c0003t0001g0264 a0001c0003t0001g0273 a0001c0003t0001g0274 a0001c0003t0001g0275 a0001c0003t0001g0283 a0001c0003t0002g0020 a0001c0003t0003g0184 a0001c0003t0003g0198 a0001c0003t0003g0212 a0001c0003t0010g0195 a0001c0003t0014g0117 a0001c0003t0018g0265 a0001c0006t0001g0131 a0002c0005t0016g0180	130	286	0.4546	-85	c.421 others(102): Show c.421-1830_421-1746delCTCCTTTCAATCCAGGGTCCAGGCATCT AGCAGCCGAAGCGCCTCCTTTCAATCCAGGGTCCACACATCCAGCAGCCG AAGCGCC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTGS1_chr9_122366024_122400703	122391325	TATATGTG others(78): Show TATATGTGTGTGTATATATATACTATATATATACATATATATATATACAT ATATATATATACATATATATATACATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp1 HG01884.hp2 others(18): Show HG00639.hp1 HG01243.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02145.hp1 HG02280.hp1 HG02280.hp2 HG02615.hp1 HG02717.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG06807.hp2 NA19030.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0006 a0001c0012 a0003c0005 others(1): Show a0001c0006 a0001c0012 a0003c0005 a0003c0014	a0001c0006t0007 a0001c0006t0008 a0001c0012t0005 others(4): Show a0001c0006t0007 a0001c0006t0008 a0001c0012t0005 a0001c0012t0013 a0003c0005t0005 a0003c0005t0007 a0003c0014t0005	a0001c0006t0007g0043 a0001c0006t0007g0197 a0001c0006t0007g0198 others(10): Show a0001c0006t0007g0043 a0001c0006t0007g0197 a0001c0006t0007g0198 a0001c0006t0008g0199 a0001c0006t0008g0200 a0001c0006t0008g0216 a0001c0012t0005g0063 a0001c0012t0013g0049 a0003c0005t0005g0003 a0003c0005t0005g0074 a0003c0005t0007g0013 a0003c0014t0005g0072 a0003c0014t0005g0073	21	332	0.0633	-85	c.144 others(102): Show c.1445-859_1445-775delGTGTGTGTATATATATACTATATATATA CATATATATATATACATATATATATATACATATATATATACATATATATA TACATAT	PTGS1	ENSG00000095303.17	transcript	ENST00000362012.7	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PUM1_chr1_30926506_31070717	30972269	AAGGGAAG others(78): Show AAGGGAAGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	334	0.0030	-85	c.150 others(104): Show c.1506+2297_1506+2381delCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCTT CCCTTCCCT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30972274	AAGGGAAG others(78): Show AAGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02040.hp1 others(1): Show HG01070.hp2 HG01071.hp2 HG02040.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0305 a0001c0001t0006g0306 a0001c0001t0006g0325 others(1): Show a0001c0001t0006g0305 a0001c0001t0006g0306 a0001c0001t0006g0325 a0001c0001t0006g0327	4	334	0.0120	-85	c.150 others(104): Show c.1506+2292_1506+2376delCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTT CCCTTCCCT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30972382	GGGAGGGG others(78): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGAAGAGAAGAGAAGAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02071.hp1 HG02280.hp1 others(6): Show HG01109.hp1 HG02071.hp1 HG02280.hp1 HG02809.hp1 NA18747.hp1 NA18980.hp1 NA18998.hp1 NA19003.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0016 a0001c0001t0025	a0001c0001t0002g0018 a0001c0001t0002g0076 a0001c0001t0002g0186 others(6): Show a0001c0001t0002g0018 a0001c0001t0002g0076 a0001c0001t0002g0186 a0001c0001t0002g0266 a0001c0001t0005g0117 a0001c0001t0005g0263 a0001c0001t0008g0116 a0001c0001t0016g0129 a0001c0001t0025g0332	9	334	0.0270	-85	c.150 others(104): Show c.1506+2184_1506+2268delTCTTCTCTTCTCTTCTCTTCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCC	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30972384	GAGGGGAG others(78): Show GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGAAGAGAAGAGAAGAGAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA20129.hp2 HG01255.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0020 a0001c0002t0001 a0001c0001t0020 a0001c0002t0001	a0001c0001t0020g0079 a0001c0002t0001g0050 a0001c0001t0020g0079 a0001c0002t0001g0050	2	334	0.0060	-85	c.150 others(104): Show c.1506+2182_1506+2266delTCTCTTCTCTTCTCTTCTCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
RBFOX3_chr17_79084345_79616051	79198057	GTCGTGTG others(78): Show GTCGTGTGGGGTGGGCTTGTCATCCCGGAAGTGCTACGGTTGCATCGTGT GGGGTGGGCTGTCATCCCGGAAGTGCTACGGTTGCA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	154	0.0065	-85	c.-34 others(104): Show c.-34+37624_-34+37708delTGCAACCGTAGCACTTCCGGGATGAC AGCCCACCCCACACGATGCAACCGTAGCACTTCCGGGATGACAAGCCCAC CCCACACGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79390010	AGGTCTCC others(78): Show AGGTCTCCGCAGCCTCCAGGTCTCCGTAGCCTCCAGGTCTCCGCAGCCGC CGGGTCTCCGCAGCCTCCGGGTCTCCGCAGCCTCCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	154	0.0065	-85	c.-17 others(106): Show c.-174-82271_-174-82187delCGGAGGCTGCGGAGACCCGGAGGC TGCGGAGACCCGGCGGCTGCGGAGACCTGGAGGCTACGGAGACCTGGAGG CTGCGGAGACC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	2/14			chr17	TogoVar
RHPN2_chr19_32973592_33069888	32983077	CACACACA others(78): Show CACACACACACACACACACTCCTGCAATGCGTACCATCACATTCTTTGAA AAGCTTTTCTTGGCCCAGATCTCTACACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0292 a0001c0002t0002g0292	1	326	0.0031	-85	c.180 others(104): Show c.1801-2906_1801-2822delTTGTGTGTGTGTAGAGATCTGGGCCA AGAAAAGCTTTTCAAAGAATGTGATGGTACGCATTGCAGGAGTGTGTGTG TGTGTGTGT	RHPN2	ENSG00000131941.8	transcript	ENST00000254260.8	protein_coding	14/14			chr19	TogoVar
RNF168_chr3_196463783_196508768	196470449	CCAGCCTC others(78): Show CCAGCCTCATCCTCATCTGGACCCGTTTCTGACCAACCACCCAATCAGTT TCAATGATCCAGACTGTCAGTCACCCCATCCAGCCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp2 HG02258.hp1 HG02630.hp1 others(4): Show HG01884.hp2 HG02258.hp1 HG02630.hp1 HG02818.hp2 HG03225.hp2 HG06807.hp1 NA18906.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0025 a0003c0004t0031 a0003c0004t0100 a0003c0004t0025 a0003c0004t0031 a0003c0004t0100	a0003c0004t0025g0249 a0003c0004t0025g0257 a0003c0004t0025g0258 others(4): Show a0003c0004t0025g0249 a0003c0004t0025g0257 a0003c0004t0025g0258 a0003c0004t0031g0284 a0003c0004t0031g0285 a0003c0004t0031g0286 a0003c0004t0100g0322	7	350	0.0200	-85	c.12 others(96): Show c.1285_*1369delAGGCTGGATGGGGTGACTGACAGTCTGGATCATT GAAACTGATTGGGTGGTTGGTCAGAAACGGGTCCAGATGAGGATGAGGCT G	RNF168	ENSG00000163961.4	transcript	ENST00000318037.3	protein_coding	6/6	1285		chr3	TogoVar
RNF185_chr22_31155182_31212019	31183936	TCCCACCT others(78): Show TCCCACCTCCCGGACGGGGCAGCTGTCCAGGCGGGGGCTGCCCCGAGCTC CCGGACGGGGCAGCTGGCCGGGCGGGGGCTGCCCCC	T T	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0039 a0001c0001t0004g0039	1	378	0.0027	-85	c.-48 others(102): Show c.-48-3107_-48-3023delACCTCCCGGACGGGGCAGCTGTCCAGGC GGGGGCTGCCCCGAGCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGCTGC CCCCCCC	RNF185	ENSG00000138942.17	transcript	ENST00000326132.11	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
RPEL1_chr10_103240887_103253016	103249627	TGGCGCAA others(78): Show TGGCGCAATCACAGCTCACTATAGCCTCTACCTCCCGGGCTCAAGTGATT CTCCCACCTCAGCCTCCAAAGTAGCTGGGACTACAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	1	375	0.0027	-85	c.29 others(96): Show c.2945_*3029delGGCGCAATCACAGCTCACTATAGCCTCTACCTCC CGGGCTCAAGTGATTCTCCCACCTCAGCCTCCAAAGTAGCTGGGACTACA G	RPEL1	ENSG00000235376.5	transcript	ENST00000441178.2	protein_coding		1612		chr10	TogoVar
RPS5_chr19_58382269_58399804	58382406	GGGCACTT others(78): Show GGGCACTTGGAGGGCTGCCCGCCTTGTGGGTCCCTTGGTGGCTGAAGAGA GTTGCACAGGAAGGCCTTGACAATTGTCACAGAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	432	0.0023	-85	c.-49 others(96): Show c.-4934_-4850delGGCACTTGGAGGGCTGCCCGCCTTGTGGGTCCCT TGGTGGCTGAAGAGAGTTGCACAGGAAGGCCTTGACAATTGTCACAGAGA A	RPS5	ENSG00000083845.9	transcript	ENST00000196551.8	protein_coding		4862		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80665331	CCCTTTCC others(78): Show CCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01517.hp1 HG01074.hp1 HG01517.hp1	a0001 a0001	a0001c0004 a0001c0011 a0001c0004 a0001c0011	a0001c0004t0023 a0001c0011t0047 a0001c0004t0023 a0001c0011t0047	a0001c0004t0023g0074 a0001c0011t0047g0076 a0001c0004t0023g0074 a0001c0011t0047g0076	2	196	0.0102	-85	c.348 others(104): Show c.348+21609_348+21693delTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1289823	CCCCGTGT others(78): Show CCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0148 a0003c0004t0003g0148	1	290	0.0035	-85	c.166 others(102): Show c.1663-426_1663-342delGTGTCCGTCCCCCGAGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCC CCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	4217157	ACCACCCG others(78): Show ACCACCCGGAGCACCACACCCCCCGGAGCACCCTGCCACCCGGAGCACCA GGCCACCCAGAGCACCAGGCCACCTGGAGCACCAGG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02602.hp2 HG02622.hp2 others(5): Show HG01175.hp1 HG02602.hp2 HG02622.hp2 HG02965.hp1 HG02976.hp2 HG03209.hp1 HG03688.hp2 HG03710.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0007 a0010 a0026	a0001c0014 a0001c0047 a0002c0009 others(4): Show a0001c0014 a0001c0047 a0002c0009 a0004c0048 a0007c0045 a0010c0080 a0026c0023	a0001c0014t0018 a0001c0047t0022 a0002c0009t0004 others(4): Show a0001c0014t0018 a0001c0047t0022 a0002c0009t0004 a0004c0048t0038 a0007c0045t0001 a0010c0080t0054 a0026c0023t0030	a0001c0014t0018g0060 a0001c0014t0018g0062 a0001c0047t0022g0091 others(5): Show a0001c0014t0018g0060 a0001c0014t0018g0062 a0001c0047t0022g0091 a0002c0009t0004g0093 a0004c0048t0038g0082 a0007c0045t0001g0020 a0010c0080t0054g0073 a0026c0023t0030g0113	8	116	0.0690	-85	c.554 others(104): Show c.5540-2941_5540-2857delCACCACACCCCCCGGAGCACCCTGCC ACCCGGAGCACCAGGCCACCCAGAGCACCAGGCCACCTGGAGCACCAGGC CACCCGGAG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	38/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SETD7_chr4_139501038_139561219	139546077	CAAGCGAG others(78): Show CAAGCGAGTAAGGAGCCTCTCCCTCTCAGTGTCCTCAGACAGGGGATGAG AGTAAAATAAAAGAAATCCTGTTGTGAAAAATACTG	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0125 a0001c0001t0009g0125	1	316	0.0032	-85	c.170 others(100): Show c.170+758_170+842delCAGTATTTTTCACAACAGGATTTCTTTTAT TTTACTCTCATCCCCTGTCTGAGGACACTGAGAGGGAGAGGCTCCTTACT CGCTT	SETD7	ENSG00000145391.14	transcript	ENST00000274031.8	protein_coding	2/7			chr4	TogoVar
SGK1_chr6_134164256_134323112	134213530	TAAATAAA others(78): Show TAAATAAATAAATAAATAAAATGTCCTCATGAAACACCTGTGGCTTAGCA TTCCAGCCTGGGTGACAAGAGCAAAACTCTGTCTCA	T T	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0073 a0007c0011t0001g0073	1	250	0.0040	-85	c.286 others(102): Show c.286-6184_286-6100delTGAGACAGAGTTTTGCTCTTGTCACCCA GGCTGGAATGCTAAGCCACAGGTGTTTCATGAGGACATTTTATTTATTTA TTTATTT	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar

Search by Variant

Search

Search Results