Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

Show

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NCK2_chr2_105739912_105899272	105807767	T T	TCTCCCTC others(239): Show TCTCCCTCCCTCCCTCCCTCCCTTCTCTCCCTCCCTCCCTCCCTTCTCTC CCTCCCTCCCTCCCTTCCCTCTATCCCTCCCTCCCTCCCTCCCTTCTCTC TCTCCCTCCCTCCCTCCCTCCCTTCTCTCCCTCCCTCCCTCCCTTCTCTC CCTCCCTCCCTCCCTTCCCTCTATCCCTCCCTCCCTCCCTCCCTTCTCTC CCTCCCTCCCTCCCTTCTCTCCCTCCCTCCCTCCCTTCCCTCTATCC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0162 a0001c0001t0005g0170 a0001c0001t0005g0162 a0001c0001t0005g0170	2	334	0.0060	246	c.-20 others(265): Show c.-200-8645_-200-8644insCCCTTCTCTCCCTCCCTCCCTCCCTT CTCTCCCTCCCTCCCTCCCTTCCCTCTATCCCTCCCTCCCTCCCTCCCTT CTCTCTCTCCCTCCCTCCCTCCCTCCCTTCTCTCCCTCCCTCCCTCCCTT CTCTCCCTCCCTCCCTCCCTTCCCTCTATCCCTCCCTCCCTCCCTCCCTT CTCTCCCTCCCTCCCTCCCTTCTCTCCCTCCCTCCCTCCCTTCCCTCTAT CCCTCCCTCCCTCCCTCCCT	NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
NEDD4L_chr18_58039226_58406539	58171217	A A	AGGACAGA others(239): Show AGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGGGGACAGAA CACTGCTGCCCGCCTCATCACCCCAGCCCAAGGGGACAGAACACTGCTGC CCGCCTCATCACCCCAGCCCAAGGGGACAGAACACTGCTGCCCGCCTCAT CACCCCAGCCCAAGGGGACAGAACACTGCTGCCCGCCTCATCACCCCAGC CCAAGGGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG03704.hp1 HG03704.hp2 others(2): Show HG00673.hp2 HG03704.hp1 HG03704.hp2 NA19004.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0014	a0001c0001t0002g0054 a0001c0001t0004g0038 a0001c0001t0004g0072 others(2): Show a0001c0001t0002g0054 a0001c0001t0004g0038 a0001c0001t0004g0072 a0001c0001t0010g0061 a0001c0001t0014g0074	5	118	0.0424	246	c.122 others(263): Show c.122+5437_122+5438insGGGACAGAACACTGCTGCCCGCCTCATC ACCCCAGCCCAAGGGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCC CAAGGGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGGGGAC AGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGGGGACAGAACACTG CTGCCCGCCTCATCACCCCAGCCCAAGGGGACAGAACACTGCTGCCCGCC TCATCACCCCAGCCCAAG	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEGR1_chr1_71390943_72287539	71793264	A A	ATATATAT others(239): Show ATATATATATATATATACATAATATATATATACACACACACATATATATA CACATATATATTATATATACATATATAATATATTATATATATATAATATA TTATATATACATATATACATATATATTATATATACATATATACATATATT ATATATACATATATACATATATTATATATACATATATACATATATTATAT ATACATATATATACATATATATGTATGTGTGTGTATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01071.hp2 HG01109.hp2 others(6): Show HG00639.hp1 HG01071.hp2 HG01109.hp2 HG01515.hp1 HG01884.hp1 HG02896.hp2 NA18522.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0007 a0001c0001 a0001c0002 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0020 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0020 a0002c0007t0001	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0019 others(6): Show a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0038 a0001c0001t0002g0009 a0001c0001t0002g0035 a0001c0002t0020g0007 a0002c0007t0001g0064	9	64	0.1406	246	c.410 others(265): Show c.410-16968_410-16967insCACACACACATATACACACACATACA TATATATGTATATATATGTATATATAATATATGTATATATGTATATATAA TATATGTATATATGTATATATAATATATGTATATATGTATATATAATATA TATGTATATATGTATATATAATATATTATATATATATAATATATTATATA TGTATATATAATATATATGTGTATATATATGTGTGTGTGTATATATATAT TATGTATATATATATATATA	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NFATC2_chr20_51381963_51547719	51500818	A A	ACCACCCC others(239): Show ACCACCCCCCCACCACCCCCACCCTCACCCCCACCCCACCCTCACCCCCA CCCCACCCTCACCCTCACCCTCACCCCACCCCCACCCTCACCCCCACCCC ACCCTCACCCCCACTACCCCCACCCTCACCCCACCCTCACCCTCACCCCC ACCCCACCCTCACCCTCACCCCACCCTCACCCTCACCCCCACCCCACCCC CACCCTCACCCTCACCCCCATCCTCACCCTCACCCTCACCCCCACCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0173 a0001c0003t0002g0173	1	316	0.0032	246	c.133 others(267): Show c.1332+15965_1332+15966insGGGTGGGGGTGAGGGTGAGGGTGA GGATGGGGGTGAGGGTGAGGGTGGGGGTGGGGTGGGGGTGAGGGTGAGGG TGGGGTGAGGGTGAGGGTGGGGTGGGGGTGAGGGTGAGGGTGGGGTGAGG GTGGGGGTAGTGGGGGTGAGGGTGGGGTGGGGGTGAGGGTGGGGGTGGGG TGAGGGTGAGGGTGAGGGTGGGGTGGGGGTGAGGGTGGGGTGGGGGTGAG GGTGGGGGTGGTGGGGGGGTGG	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	3/10			chr20	TogoVar
NFILZ_chr19_8625633_8686151	8656482	C C	CAGCGCAC others(239): Show CAGCGCACCTCCTCCCTGAAGCCCCCTTCTTCCTGAAGCCCACCTCTTCC CTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACCTTC TCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACC TTCTCTCTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCTCTGAAACCC ACCTCTTTCCGCAGCCCACCTTCTCCTGCAGCCCACCTTCTCCCTGA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0214 a0001c0001t0005g0214	1	366	0.0027	246	c.-16 others(267): Show c.-163-18066_-163-18065insGCACCTCCTCCCTGAAGCCCCCTT CTTCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTCTTCCCTGAAGCCCA CCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGC CCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCTCCCGCA GCCCACCTTCTCTCTGAAACCCACCTCTTTCCGCAGCCCACCTTCTCCTG CAGCCCACCTTCTCCCTGAAGC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8661031	C C	CTCCCTCC others(239): Show CTCCCTCCCTTCCTTCCCCCTCCCTCCCTTCCTTCCCCCTCCCTCCCTTC CTTCCCCCTCCCTCCCTTCCTTCCCCCTCCCTCCCTTCCTCCTTCCTTCC TTCCTTCCTTCCCCCTCCCTCCCTTCCTTCCCCCTCCCTCCCTTCCTTCC CCCTCCCTCCCTTCCTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCCC TCCCTCCCTTCCTTCCCCCTCCCTCCCTTCCTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0197 a0002c0002t0002g0197	1	366	0.0027	246	c.-16 others(267): Show c.-163-13508_-163-13507insTTCCCCCTCCCTCCCTTCCTTCCC CCTCCCTCCCTTCCTTCCCCCTCCCTCCCTTCCTTCCCCCTCCCTCCCTT CCTCCTTCCTTCCTTCCTTCCTTCCCCCTCCCTCCCTTCCTTCCCCCTCC CTCCCTTCCTTCCCCCTCCCTCCCTTCCTCCTTCCTTCCTTCCTTCCCTC CCTTCCTTCCCCCTCCCTCCCTTCCTTCCCCCTCCCTCCCTTCCTCCTTC CTTCCTTCCTTCCCTCCCTTCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NKD2_chr5_1003802_1043943	1023035	T T	TCTGTGGG others(239): Show TCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGC GTCTCAGCCCATTGTACCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCC CATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCCC TGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCC CACCCGCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG03130.hp1 HG03195.hp2 HG02273.hp1 HG03130.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0073 a0001c0001t0013g0074 a0001c0001t0013g0075 a0001c0001t0013g0073 a0001c0001t0013g0074 a0001c0001t0013g0075	3	319	0.0094	246	c.142 others(263): Show c.142-9058_142-9057insATTGTACCTGCTCTTCCCACCCTCTGTG GGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCA GCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGT CCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCT TCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCT CTGTGGGCGTCTCAGCCC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NLRP8_chr19_55942832_55993629	55993488	T T	TCCTCTCC others(239): Show TCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCTCCCCC CTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTC CCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCC CCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCC CTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0000 a0000	a0000c0011 a0000c0011	a0000c0011t0006 a0000c0011t0006	a0000c0011t0006g0020 a0000c0011t0006g0020	1	350	0.0029	246	c.55 others(257): Show c.5575_*5576insCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCTCCC CCCCTCCTCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCT CCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTC CCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCC CCTCCCCTCCCC	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4860		chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993508	C C	CCCCCCCT others(239): Show CCCCCCCTCTCCCCCCCTCTCCCCCCCCCTCCCCCACCTCTCCCCCCTCT CCCCCCCTCCCCCCTCCCCCCCTCCCCCCTCTCCCCCTCCCTCCCTCCCC CCTCTCCCCCTCCCTCCCCCTCCCCCCTCTCCCCCTCCCTCCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0014 a0002c0006t0014	a0002c0006t0014g0163 a0002c0006t0014g0163	1	350	0.0029	246	c.55 others(257): Show c.5595_*5596insCCCCCCTCTCCCCCCCTCTCCCCCCCCCTCCCCC ACCTCTCCCCCCTCTCCCCCCCTCCCCCCTCCCCCCCTCCCCCCTCTCCC CCTCCCTCCCTCCCCCCTCTCCCCCTCCCTCCCCCTCCCCCCTCTCCCCC TCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4880		chr19	TogoVar
NRXN3_chr14_78165373_79873291	79257415	A A	ATGGTGGT others(239): Show ATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGATGGTGGTGGTGGTGGTGGTAGTGATGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTAGTGATGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0012 a0001c0010t0001g0012	1	24	0.0417	246	c.326 others(269): Show c.3263-209798_3263-209797insGTGATGGTGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTAGTGATGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGGTAGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGGTG	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NSUN6_chr10_18540561_18656587	18555911	G G	GGAATGGA others(239): Show GGAATGGAATGGAATGGAATGGAGAATGGAAGGGAATGGAATGGAAAATG GTATGGAATGGAGAATTAAATAGAATGGATAATAGAATGGAATATGGAAT GGAATGAAATGAAGACTGGAATGGAGAATGGTGTGGAATGGAAGGGAAAA TGGAGAATGGAATGGAATCGAGAATTGAATGGAATGGAATGGAGAATAGA ATGCAATTGAATGGGATGGACATGAATGGAGAATGGAATGGAATGGA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0190 a0001c0001t0003g0190	1	346	0.0029	246	c.923 others(263): Show c.923-4186_923-3941dupTCCATTCCATTCCATTCTCCATTCATGT CCATCCCATTCAATTGCATTCTATTCTCCATTCCATTCCATTCAATTCTC GATTCCATTCCATTCTCCATTTTCCCTTCCATTCCACACCATTCTCCATT CCAGTCTTCATTTCATTCCATTCCATATTCCATTCTATTATCCATTCTAT TTAATTCTCCATTCCATACCATTTTCCATTCCATTCCCTTCCATTCTCCA TTCCATTCCATTCCATTC	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	8/10			chr10	TogoVar
NWD2_chr4_37239743_37454463	37330871	A A	ATACAATA others(239): Show ATACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTATACAATAC CACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAAT CATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCT ACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTA TTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02809.hp2 NA19030.hp2 HG02257.hp2 HG02809.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0002 a0001c0009t0002 a0001c0002t0002 a0001c0009t0002	a0001c0002t0002g0182 a0001c0009t0002g0197 a0001c0009t0002g0242 a0001c0002t0002g0182 a0001c0009t0002g0197 a0001c0009t0002g0242	3	296	0.0101	246	c.240 others(263): Show c.240+4969_240+4970insGTACAATACCACCAGAATCATCACCCTA CTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTAT TTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACA ATACCACCAGAATCATCACCCTACTTGAGTATTTCTATACAATACCACCA GAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCA CCCTACTTGAGTATTTCT	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NWD2_chr4_37239743_37454463	37331035	G G	GTACAATA others(239): Show GTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATAC CACCAGAATCATCACCCTACTTGAGTATTTCTATACAATACCACCAGAAT CATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCT ACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTA TTTCTATACAATACCACCGGAATCATCACCCTACTTGAGTATTTCTA	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18994.hp2 NA18999.hp1 others(3): Show HG02015.hp2 NA18994.hp2 NA18999.hp1 NA19009.hp2 NA19064.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0002t0004 a0001c0004t0007	a0001c0001t0001g0075 a0001c0001t0001g0118 a0001c0001t0005g0268 others(3): Show a0001c0001t0001g0075 a0001c0001t0001g0118 a0001c0001t0005g0268 a0001c0001t0007g0252 a0001c0002t0004g0141 a0001c0004t0007g0261	6	296	0.0203	246	c.240 others(263): Show c.240+5229_240+5474dupGGAATCATCACCCTACTTGAGTATTTCT ATACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATAC CACCAGAATCATCACCCTACTTGAGTATTTCTATACAATACCACCAGAAT CATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCT ACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTA TTTCTATACAATACCACC	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NWD2_chr4_37239743_37454463	37331035	G G	GTACAATA others(239): Show GTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATAC CACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAAT CATCACCCTACTTGAGTATTTCTATACAATACCACCAGAATCATCACCCT ACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTA TTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0169 a0001c0002t0015g0169	1	296	0.0034	246	c.240 others(263): Show c.240+5092_240+5093insGTACAATACCACCAGAATCATCACCCTA CTTGAGTATTTCTATACAATACCACCAGAATCATCACCCTACTTGAGTAT TTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACA ATACCACCAGAATCATCACCCTACTTGAGTATTTCTATACAATACCACCA GAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCA CCCTACTTGAGTATTTCT	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NWD2_chr4_37239743_37454463	37331586	C C	CATCACCC others(239): Show CATCACCCTACTTGAGTATTTCTATACAATACCACCAGAATCATCACCCT ACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTA TTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTATAC AATACCACCAGAATCATCACCCTACTTGAGTATTTCTATACAGTACCACC AGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0187 a0002c0003t0006g0187	1	296	0.0034	246	c.240 others(263): Show c.240+5565_240+5566insACCCTACTTGAGTATTTCTATACAATAC CACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAAT CATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCT ACTTGAGTATTTCTATACAATACCACCAGAATCATCACCCTACTTGAGTA TTTCTATACAGTACCACCAGAATCATCACCCTACTTGAGTATTTCTGTAC AATACCACCAGAATAATC	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NXN_chr17_794310_984776	949088	C C	CCTGCCTC others(239): Show CCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCC TCTCCCCCCTGCCTCCTCCTCTCCCCGCTGCCTCCTCCTCTCCCCCCTGC CTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCC CGCGGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCGCGGCCTCCTC CTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	242	0.0041	246	c.360 others(265): Show c.360+30230_360+30231insCGGGGAGAGGAGGAGGCCGCGGGGAG AGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCCG CGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCCGCGGGGAGAGGAG GAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGCGGGGA GAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCA GGGGGGAGAGGAGGAGGCAG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OPTN_chr10_13095163_13143308	13115253	T T	TTATATCT others(239): Show TTATATCTATATTTATATCTATATTTATATATATTTATAAATATAGATAT ATCTATATTTATATATATTTATAAATATAGATATATCTATATTTATATAT ATATATAAATATAGATATATCTATATTTATATATATTTATAAATATAGAT ATATCTATATTTATATATATTTATAAATATAGATATATCTATATTTACAT ATATATATAAATATAGATATATCTATATATATATTTATAAATATAGA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03540.hp2 HG03130.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0015 a0002c0003t0001g0336 a0001c0001t0001g0015 a0002c0003t0001g0336	2	418	0.0048	246	c.553 others(261): Show c.553-997_553-996insCTATATTTATATATATTTATAAATATAGAT ATATCTATATTTATATATATTTATAAATATAGATATATCTATATTTATAT ATATATATAAATATAGATATATCTATATTTATATATATTTATAAATATAG ATATATCTATATTTATATATATTTATAAATATAGATATATCTATATTTAC ATATATATATAAATATAGATATATCTATATATATATTTATAAATATAGAT ATATCTATATTTATAT	OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
OPTN_chr10_13095163_13143308	13115253	T T	TTATATCT others(239): Show TTATATCTATATTTATATCTATATTTATATATATTTATAAATATAGATAT ATCTATATTTATATATATTTATAAATATAGATATATCTATATTTATATAT ATTTATAAATATAGATATATCTATATTTATATATATTTATAAATATAGAT ATATCTATATTTATATATATTTATAAATATAGATATATCTATATTTACAT ATATATATAAATATAGATATATCTATATATATATTTATAAATATAGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG03453.hp1 others(1): Show HG02257.hp2 HG02258.hp1 HG03453.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0371 a0001c0001t0001g0372 others(1): Show a0001c0001t0001g0291 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373	4	418	0.0096	246	c.553 others(261): Show c.553-997_553-996insCTATATTTATATATATTTATAAATATAGAT ATATCTATATTTATATATATTTATAAATATAGATATATCTATATTTATAT ATATTTATAAATATAGATATATCTATATTTATATATATTTATAAATATAG ATATATCTATATTTATATATATTTATAAATATAGATATATCTATATTTAC ATATATATATAAATATAGATATATCTATATATATATTTATAAATATAGAT ATATCTATATTTATAT	OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
OR1F1_chr16_3183204_3211556	3197871	A A	AGGAGAGG others(239): Show AGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGA AGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAAGGAGAGG GAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0087 a0001c0001t0007g0087	1	328	0.0031	246	c.-12 others(263): Show c.-12-6353_-12-6352insAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGA AGGAGAGGGAGAGGGAGA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
PAK1_chr11_77317017_77479094	77332356	A A	AGGGAAGG others(239): Show AGGGAAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGGGAGGGGAGGGG AGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGG GGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAGGGGGG AGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGAG CGGGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0283 a0001c0001t0003g0283	1	302	0.0033	246	c.155 others(263): Show c.1551+373_1551+374insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCGCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCC CTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCCTCCCCTC CCCTCCCCTCCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PALD1_chr10_70473767_70573450	70554954	C C	CCCCTCCC others(239): Show CCCCTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCC CCTCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCT TCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCC CCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0024 a0002c0002t0004g0024	1	308	0.0033	246	c.226 others(265): Show c.2262+7511_2262+7512insTCCCCTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCTC CTCCCCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCC CTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCCCTCCTCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PCNX1_chr14_70902459_71120382	70910040	T T	TCCTCCTC others(239): Show TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTC CTCCTCCCCCTCCTCCTCCTCCCCCTCCCCCTCCCCCTCCTCCTCCTCCT CCTCCTCCCCCTCCTCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCC TCCCCCTCCTCCTCCTCCCCCTCCCCCTCCTCCCCCTCCTCCTCCTCCTC CTCCCCCTCCCCCTCCTCCTCCCCCTCCTCCTCCTCCTCCTCCTCCC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0063 a0014c0015t0063	a0014c0015t0063g0131 a0014c0015t0063g0131	1	352	0.0028	246	c.153 others(263): Show c.153+2060_153+2061insTCCTCCCCCTCCTCCTCCCCCTCCTCCT CCTCCCCCTCCTCCTCCTCCCCCTCCCCCTCCCCCTCCTCCTCCTCCTCC TCCTCCCCCTCCTCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTC CCCCTCCTCCTCCTCCCCCTCCCCCTCCTCCCCCTCCTCCTCCTCCTCCT CCCCCTCCCCCTCCTCCTCCCCCTCCTCCTCCTCCTCCTCCTCCCCCTCC TCCTCCTCCTCCTCCTCC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(239): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCACTTCCCCTCCCTCTCCCCTGCCCTCCCCCTCCC CCTCCCTCATCCCCTCCCCACTCCCCCTCCCCCTCCCCTCCCCATCCCCT CCCCACTCCCCCTCCCCCTCCCCACTCCCCCTCCCCCTCCCCTGCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0014 a0002c0008t0002g0014	1	336	0.0030	246	c.-37 others(257): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGA GGGGAGGGGAGGGGGAGGGCAGGGGAGGGGGAGGGGGAGTGGGGAGGGGG AGGGGGAGTGGGGAGGGGATGGGGAGGGGAGGGGGAGGGGGAGTGGGGAG GGGATGAGGGAGGGGGAGGGGGAGGGCAGGGGAGAGGGAGGGGAAGTGGG GAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGG GGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(239): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCCATCCCCTCCCCACTTCCCCTCCCTCTC CCCTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCCCCACTCCCCCTCCCC CTCCCCTCCCCCATCCCCTCCCCACTCCCCCTCCCCCCTCCCCACTCCCC CTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0067 a0001c0006t0001g0067	1	336	0.0030	246	c.-37 others(257): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGA GGGGGAGGGGGAGGGGGAGTGGGGAGGGGGGAGGGGGAGTGGGGAGGGGA TGGGGGAGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGAGGGAGGGGGAG GGGGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGGGATGGGGGAGGGG GAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGG GGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493383	C C	CCTCCCCC others(239): Show CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCCTCCCCCATCCCCTCCCCACTTCCCCTCCCTCTCCCCTGCCCTCCCCC TCCCCCTCCCTCATCCCCTCCCCACTCCCCCTCCCCCTCCCCTCCCCCAT CCCCTCCCCACTCCCCCTCCCCCTCCCCACTCCCCCTCCCCCTCCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01243.hp2 HG01081.hp2 HG01243.hp2	a0004 a0004	a0004c0014 a0004c0042 a0004c0014 a0004c0042	a0004c0014t0001 a0004c0042t0001 a0004c0014t0001 a0004c0042t0001	a0004c0014t0001g0055 a0004c0042t0001g0049 a0004c0014t0001g0055 a0004c0042t0001g0049	2	336	0.0060	246	c.-37 others(257): Show c.-3714_-3713insAGGGGAGGGAGGGGGAGGGGGAGGGGAGGGGGAG GGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGTGGGGAGGGGGAGGGG GAGTGGGGAGGGGATGGGGGAGGGGAGGGGGAGGGGGAGTGGGGAGGGGA TGAGGGAGGGGGAGGGGGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGG GGATGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGAGGGGGAG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3677		chr15	TogoVar
PDE6B_chr4_620573_675782	660975	A A	AGTTGGAT others(239): Show AGTTGGATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATAGT TGGATAAATGGATGGATGGGTGGGTGGGCCATGGTAGTTGGATGGTTGGA TAAATTGATGGATGGGTGGGTGGGCGGGCCAATGGTAGTTGGATGGTTGG ATAAATGGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATGGTTG GATAAATGGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03516.hp2 HG02559.hp1 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0066 a0001c0004t0001g0085 a0001c0004t0001g0066 a0001c0004t0001g0085	2	308	0.0065	246	c.161 others(263): Show c.1614+379_1614+380insATGGGTGGGTGGGCCAATGGTAGTTGGA TAGTTGGATAAATGGATGGATGGGTGGGTGGGCCATGGTAGTTGGATGGT TGGATAAATTGATGGATGGGTGGGTGGGCGGGCCAATGGTAGTTGGATGG TTGGATAAATGGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATG GTTGGATAAATGGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGAT GGTTGGATAAATGGATGG	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PEX10_chr1_2398974_2417564	2401341	T T	TCTCCCTC others(239): Show TCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTC CTCCCTCCTCCTCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTC CTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCT TCCTCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCT CCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG03471.hp1 HG01884.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0042 a0001c0002t0012g0042	2	358	0.0056	246	c.44 others(257): Show c.4424_*4425insGAAGGAGGAGGGAGGGAGGAGGAGGGAGGAAGGA GGGAGGAGGGGGGAGGAGGGAGGGAGGAGGGGGAGGGAGGAGGGGGAGGA GGGAGGAGGAGGAAGAAGGGAGGAGGAGGGAGGAAGAAGGGAGGAGGGAG GAGGAGGGAGGAGGAGGGAGGAAGGAGGGAGGAGGAGGGAGGGAAGGAGG GAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGGAGGAGGGAGGGAGGA GGGAGGAGGGAG	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2632		chr1	TogoVar
PEX10_chr1_2398974_2417564	2401341	T T	TCTCCCTC others(239): Show TCTCCCTCCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCC TCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCC TCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCCTTCTTCCTCCTCCTCCCT CCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCT CCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	358	0.0028	246	c.44 others(257): Show c.4424_*4425insGAAGGAGGAGGGAGGAAGGAGGAGGGAGGGAGGA GGAGGGAGGAAGGAGGGAGGAGGGGGGAGGAGGGAGGGAGGAGGGGGAGG GAGGAGGGGGAGGAGGGAGGAGGAGGAAGAAGGGAGGAGGGAGGAAGAAG GGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAAGGAGGGAGGAGGAGGG AGGGAAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGGAGGA GGGAGGAGGGAG	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2632		chr1	TogoVar
PHACTR3_chr20_59599540_59852711	59674362	T T	TCCCCTTC others(239): Show TCCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTTCCTCCTTCTCCTGTTCC TTCCCCTTCTCCTGTCCCCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTCC CCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTTCCCCCTTCTCCTGTTCCT TCCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTCCCCCCTTCTCCTGTCCC CCCTTCTCCTGTTCCTCCTTCTCCTGTTCCTTCCCCTTCTCCTGTCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02818.hp1 HG02258.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0051 a0001c0001t0001g0015 a0001c0001t0001g0051	2	250	0.0080	246	c.119 others(265): Show c.119-68646_119-68645insCCCCTTCTCCTGTTCCTTCCCCTTCT CCTGTTCCCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTTCCTTCCCCTTC TCCTGTCCCCCCTTCTCCTGTCCCCCCTTCTCCTGTTCCTCCTTCTCCTG TTCCTTCCCCTTCTCCTGTCCCCCCTTCTCCTGTTCCTTCCCCTTCTCCT GTTCCTCCTTCTCCTGTTCCTTCCCCTTCTCCTGTCCCCCCTTCTCCTGT TCCTTCCCCTTCTCCTGTCC	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PKHD1_chr6_51610299_52092613	51981304	G G	GCTCTCCC others(239): Show GCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02486.hp1 HG01074.hp1 HG02486.hp1	a0006 a0046 a0006 a0046	a0006c0076 a0046c0067 a0006c0076 a0046c0067	a0006c0076t0005 a0046c0067t0003 a0006c0076t0005 a0046c0067t0003	a0006c0076t0005g0088 a0046c0067t0003g0112 a0006c0076t0005g0088 a0046c0067t0003g0112	2	134	0.0149	246	c.575 others(267): Show c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAG	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKP3_chr11_389209_409908	401378	C C	CCCCGGCC others(239): Show CCCCGGCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCC GCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCC CCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCT CACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACC CCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACA	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA19085.hp2 HG02165.hp1 NA19085.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0153 a0001c0003t0001g0156 a0001c0003t0001g0153 a0001c0003t0001g0156	2	216	0.0093	246	c.173 others(263): Show c.1737+681_1737+682insGCTCACACCCGCCCCGCTCACACCCGGC CCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCG CTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCA CACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCC GGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGC CCCGCTCACACCCGGCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLEKHG4B_chr5_87168_194966	165553	C C	CTGACGGG others(239): Show CTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACT AATGCTCTGACGGGGCGGGGCTCACACGCTCTGACGGGGCGGGGCTCAGT AATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCT CACACTAATGGTCTGACGGGGCGGGGCTCACACTAATGCTGTGACGGGGC GGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0011 a0011	a0011c0023 a0011c0023	a0011c0023t0044 a0011c0023t0044	a0011c0023t0044g0187 a0011c0023t0044g0187	1	210	0.0048	246	c.347 others(265): Show c.3476+2016_3476+2017insAGCTCACACTAATGCTCTGACGGGGC GGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACGCTCTGACGGG GCGGGGCTCAGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGA CGGGGCGGAGCTCACACTAATGGTCTGACGGGGCGGGGCTCACACTAATG CTGTGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACA CTAATGCTGTGACGGGGCGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHN1_chr1_961482_980865	977476	C C	CCAACCCG others(239): Show CCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACGCCTG CCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCC CCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCG CCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0001 a0001c0001t0008g0001	1	422	0.0024	246	c.29 others(257): Show c.2901_*2902insCAACCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAAC CGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCAC CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1612		chr1	TogoVar
PLXNB2_chr22_50269979_50312646	50285674	C C	CACCTGAG others(239): Show CACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGTACCTGAGC CTGCCTGTCACCGGCCGGCACCCCTCCCTCCGTACCTGAGCCTGCCTGTC ACCGGCCGGCACCCCTCCCTCCGCACCTTAGCCTGCCTGTCACCAACCGG CACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCC CTCCGTACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0004 a0004	a0004c0021 a0004c0021	a0004c0021t0001 a0004c0021t0001	a0004c0021t0001g0269 a0004c0021t0001g0269	1	302	0.0033	246	c.208 others(263): Show c.2088+125_2088+126insACGGAGGGAGGGGTGCCGGCCGGTGACA GGCAGGCTCAGGTACGGAGGGAGGGGTGCCGGCCGGTGACAGGCAGGCTC AGGTGCGGAGGGAGGGGTGCCGGTTGGTGACAGGCAGGCTAAGGTGCGGA GGGAGGGGTGCCGGCCGGTGACAGGCAGGCTCAGGTACGGAGGGAGGGGT GCCGGCCGGTGACAGGCAGGCTCAGGTACGGAGGGAGGGGTGCCGGCCGG TGACAGGCAGGCTCAGGT	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	11/36			chr22	TogoVar
PNMA5_chrX_152983824_152999116	152998762	T T	TTTATATA others(239): Show TTTATATAAAAATATATAATATATATTTATATAAAAATATATTATATATA ATATAATTATTATATATAAAAATATATTTATATATATTATATTATATATA ATATATTATATATATTATATTATATATAATATATTATATATATTATATTA TATATAATATATTATATATATTATATTATATATAATATATTATATATATT ATAATATATATAATATATTATATATATTATATTATATATTTTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	286	0.0035	246	c.-50 others(257): Show c.-5060_-5059insTATATAAAATATATAATATAATATATATAATATA TTATATATATTATAATATATATAATATATTATATATAATATAATATATAT AATATATTATATATAATATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATAATATAATATATATAAATATATTTTTATAT ATAATAATTATATTATATATAATATATTTTTATATAAATATATATTATAT ATTTTTATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4647		chrX	TogoVar
PPFIA2_chr12_81252975_81764350	81642703	T T	TGTATATA others(239): Show TGTATATATTATATACATACACGTATGTATATATTATATACATACACGTA TGTATATATTATATACATACACGTATGTATATATTATATACATACACGTA TGTATATATTATATACATACACGTATGTATATATTATATACATACGTGTA TGTATATATTATATACATACACGTGTATGTATATATTATATACATACACG TGTATGTATATATTATATACATACACGTGTATGTATATATTATATAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	168	0.0060	246	c.303 others(265): Show c.303+34087_303+34088insGTATATAATATATACATACACGTGTA TGTATATAATATATACATACACGTGTATGTATATAATATATACATACACG TGTATGTATATAATATATACATACACGTATGTATATAATATATACATACG TGTATGTATATAATATATACATACGTGTATGTATATAATATATACATACG TGTATGTATATAATATATACATACGTGTATGTATATAATATATACATACG TGTATGTATATAATATATAC	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32			chr12	TogoVar
PPM1L_chr3_160751231_161083902	160945043	T T	TATTATAT others(239): Show TATTATATATAACTATATATAACATATATTATATATAACTATATATAACA TATATTATATATAACTATATATAACATATATTATATATAACTATATATAA CATATATTATATATAACTATATATAACATGTTATATATAACTATATATAA CATGTTATATATAACTATATATAACATGTTATATATAACTATATATAACA TGTTATATATAACTATATATAACATGTTATATATAACTATATATAAC	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA19070.hp1 NA18956.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0067 a0001c0001t0001g0070	2	206	0.0097	246	c.400 others(265): Show c.400-16691_400-16690insTATATATAACTATATATAACATATAT TATATATAACTATATATAACATATATTATATATAACTATATATAACATAT ATTATATATAACTATATATAACATATATTATATATAACTATATATAACAT GTTATATATAACTATATATAACATGTTATATATAACTATATATAACATGT TATATATAACTATATATAACATGTTATATATAACTATATATAACATGTTA TATATAACTATATATAACAT	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PRKAG2_chr7_151551127_151882115	151855369	A A	ACACACCA others(239): Show ACACACCACCCTCCACACACACCGCCCTCCACACACCGCCCTCCACACAC ACCACTTTACACACACGCCACCCTCCACACACCACCCTACACACACACCA CCCTCCACACACGCCACCCTCCACACACACCACCCTCCACACACACCACG CTCCACACACACCGCCCTCCACACACACCACCCTCCACACACACCACCCT CCACACACACCACCCTCCACACACCACCCTCCACACACACCACCCTC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18995.hp1 NA18954.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0061 a0001c0001t0002g0041 a0001c0001t0002g0061	2	252	0.0079	246	c.114 others(265): Show c.114+21137_114+21138insGAGGGTGGTGTGTGTGGAGGGTGGTG TGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTG TGGAGGGCGGTGTGTGTGGAGCGTGGTGTGTGTGGAGGGTGGTGTGTGTG GAGGGTGGCGTGTGTGGAGGGTGGTGTGTGTGTAGGGTGGTGTGTGGAGG GTGGCGTGTGTGTAAAGTGGTGTGTGTGGAGGGCGGTGTGTGGAGGGCGG TGTGTGTGGAGGGTGGTGTG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKN_chr6_161342417_162732766	161436029	A A	AGGGATGG others(239): Show AGGGATGGGAGGGCAGAGAGCAGGGGGCGGGATGAGAGGGACAGAGAGGA GGGGGCAAGATGGGAGGGACAGAGGGCAGGGGCCAGGATGGCATGGCAGA GGGGAGGGGGCGGGGTAGGAGGGCAGAGAGGAGGAGGCCGGATGGGAAGT ACAGAGAGGAAGGGGTGGGATGGGAGGACAGAGAGGAGGGGGAGGGATGG GAGGACAGAGAGGAGGGGGTGGGATGGGAGGACAGAGAGGAGGGGGT	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18522.hp1 HG02922.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0001 a0001c0003t0003	a0001c0003t0001g0025 a0001c0003t0003g0027 a0001c0003t0001g0025 a0001c0003t0003g0027	2	32	0.0625	246	c.108 others(267): Show c.1084-49153_1084-49152insACCCCCTCCTCTCTGTCCTCCCAT CCCACCCCCTCCTCTCTGTCCTCCCATCCCTCCCCCTCCTCTCTGTCCTC CCATCCCACCCCTTCCTCTCTGTACTTCCCATCCGGCCTCCTCCTCTCTG CCCTCCTACCCCGCCCCCTCCCCTCTGCCATGCCATCCTGGCCCCTGCCC TCTGTCCCTCCCATCTTGCCCCCTCCTCTCTGTCCCTCTCATCCCGCCCC CTGCTCTCTGCCCTCCCATCCC	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	9/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161436029	A A	AGGGATGG others(239): Show AGGGATGGGAGGGCAGAGAGGAGGGGGAGGGATGGGAGGGCAGAGAGCAG GGGGCGGGATGAGAGGGACAGAGAGGAGGGGGCAAGATGGGAGGGACAGA GGGCAGGGGCCAGGATGGCATGGCAGAGGGGAGGGGGCGGGGTAGGAGGG CAGAGAGGAGGAGGCCGGATGGGAAGTACAGAGAGGAAGGGGTGGGATGG GAGGACAGAGAGGAGGGGGAGGGATGGGAGGACAGAGAGGAGGGGGT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp2 HG02602.hp1 HG02602.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0009 a0001c0001t0006 a0002c0002t0009	a0001c0001t0006g0003 a0002c0002t0009g0008 a0001c0001t0006g0003 a0002c0002t0009g0008	2	32	0.0625	246	c.108 others(267): Show c.1084-49153_1084-49152insACCCCCTCCTCTCTGTCCTCCCAT CCCTCCCCCTCCTCTCTGTCCTCCCATCCCACCCCTTCCTCTCTGTACTT CCCATCCGGCCTCCTCCTCTCTGCCCTCCTACCCCGCCCCCTCCCCTCTG CCATGCCATCCTGGCCCCTGCCCTCTGTCCCTCCCATCTTGCCCCCTCCT CTCTGTCCCTCTCATCCCGCCCCCTGCTCTCTGCCCTCCCATCCCTCCCC CTCCTCTCTGCCCTCCCATCCC	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	9/11			chr6	TogoVar
PRR5L_chr11_36291288_36470204	36351047	T T	TTTATATG others(239): Show TTTATATGTATTTTATATATAAATATATATTTATAAATATATGTATTTTA TATATAAATATATATTTATAAATATATGTATTTTATATATAAATATATAT TTATAAATATATGTATTTTATATATAAATATATATTTATAAATATATGTA TTTTATATATAAATATATATTTATAAATATATGTATTTTATATATAAATA TATATTTATAAATATATGTATTTTATATATAAATATATATTTATAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0142 a0001c0001t0003g0142	1	272	0.0037	246	c.-12 others(267): Show c.-125-49949_-125-49948insTATATGTATTTTATATATAAATAT ATATTTATAAATATATGTATTTTATATATAAATATATATTTATAAATATA TGTATTTTATATATAAATATATATTTATAAATATATGTATTTTATATATA AATATATATTTATAAATATATGTATTTTATATATAAATATATATTTATAA ATATATGTATTTTATATATAAATATATATTTATAAATATATGTATTTTAT ATATAAATATATATTTATAAAT	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTPRG_chr3_61556571_62302609	61885680	T T	TCCTCTCC others(239): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCCTCCTCTCCTC TCCTCTCTCCTCTCCTCTCCTCTCCACTCCTCCCCTCCCCTCCCCTCCCC TCTCCTCTCCTCTCCTCTGCTCCCCTCTCCTCCCCCCCCTCCCCTCCCCT CCCCTCCTGTCCCCCTCCCCTCTCCCCTCCCCCTCCCCCTCCCCTCACCC TCCCTCCTCCCCCCTCCCCTCCCCCTCCCTCCTCCCTCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	94	0.0106	246	c.191 others(267): Show c.191-103924_191-103923insCTCTCCTCTCCTCTCCCCTCCTCT CCTCTCCTCTCTCCTCTCCTCTCCTCTCCACTCCTCCCCTCCCCTCCCCT CCCCTCTCCTCTCCTCTCCTCTGCTCCCCTCTCCTCCCCCCCCTCCCCTC CCCTCCCCTCCTGTCCCCCTCCCCTCTCCCCTCCCCCTCCCCCTCCCCTC ACCCTCCCTCCTCCCCCCTCCCCTCCCCCTCCCTCCTCCCTCCTCCCCTC CCCTCTCCTCTCCTCTCCTCTC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PXDN_chr2_1626887_1749515	1679630	G G	GTGTGTGT others(239): Show GTGTGTGTGTCTAAAAATGGTGTGTGTGTAAATGGTGTGTGTGGATGGCA CATGTGTGTGGTCTGTCTCTGCATGTGTGTCTATAAATGCTGTGTGTGTG TGGATGGTGTGTGCGTGTATGTGCGTGTGTGTGGTTTGTATCTGCATGTG TGTGTCTATAAATGGTGTGTGTAAATGGTGTGTGTGTAAATGGTGTGTGT GTGGATGGTGTGTGTGTGTATGTGTGTGTGTGTGGTTTGTGTCTGCA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0239 a0001c0002t0003g0239	1	322	0.0031	246	c.730 others(261): Show c.730+562_730+563insTGCAGACACAAACCACACACACACACATAC ACACACACACCATCCACACACACACCATTTACACACACACCATTTACACA CACCATTTATAGACACACACATGCAGATACAAACCACACACACGCACATA CACGCACACACCATCCACACACACACAGCATTTATAGACACACATGCAGA GACAGACCACACACATGTGCCATCCACACACACCATTTACACACACACCA TTTTTAGACACACACA	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	7/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1679630	G G	GTGTGTGT others(239): Show GTGTGTGTGTCTATAAATGGTGTGTGTGTAAATGGTGTGTGTGGATGGCA CATGTGTGTGGTCTGTGTCTGCATGTGTGTCTATAAATGCTGTGTGTGTG TGGATGGTGTGTGCGTGTATGTGCGTGTGTGTGGTTTGTATCTGCATGTG TGTGTCTATAAATGGTGTGTGTAAATGGTGTGTGTGTAAATGGTGTGTGT GTGGATGGTGTGTGTGTGTATGTGTGTGTGTGTGGTTTGTGTCTGCA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp2 HG00738.hp2 others(28): Show HG00639.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01175.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01928.hp2 HG01981.hp2 HG01993.hp1 HG02040.hp2 HG02257.hp2 HG02486.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02922.hp2 HG03139.hp1 HG03492.hp1 HG03710.hp1 HG03834.hp2 HG06807.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0014 a0001c0034 a0005c0041 a0008c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 a0001c0001t0021 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0004t0004 a0001c0006t0008 a0001c0014t0013 a0001c0034t0003 a0005c0041t0002 a0008c0025t0020	a0001c0001t0001g0009 a0001c0001t0001g0053 a0001c0001t0001g0075 others(28): Show a0001c0001t0001g0009 a0001c0001t0001g0053 a0001c0001t0001g0075 a0001c0001t0002g0059 a0001c0001t0002g0134 a0001c0001t0002g0143 a0001c0001t0002g0228 a0001c0001t0005g0175 a0001c0001t0005g0212 a0001c0001t0015g0037 a0001c0001t0015g0316 a0001c0001t0021g0160 a0001c0002t0002g0082 a0001c0002t0003g0026 a0001c0002t0003g0131 a0001c0002t0003g0314 a0001c0003t0001g0035 a0001c0003t0001g0085 a0001c0003t0001g0110 a0001c0003t0001g0141 a0001c0003t0001g0283 a0001c0003t0001g0290 a0001c0003t0001g0291 a0001c0003t0002g0006 a0001c0003t0002g0033 a0001c0004t0004g0311 a0001c0006t0008g0315 a0001c0014t0013g0145 a0001c0034t0003g0032 a0005c0041t0002g0133 a0008c0025t0020g0172	31	322	0.0963	246	c.730 others(261): Show c.730+562_730+563insTGCAGACACAAACCACACACACACACATAC ACACACACACCATCCACACACACACCATTTACACACACACCATTTACACA CACCATTTATAGACACACACATGCAGATACAAACCACACACACGCACATA CACGCACACACCATCCACACACACACAGCATTTATAGACACACATGCAGA CACAGACCACACACATGTGCCATCCACACACACCATTTACACACACACCA TTTATAGACACACACA	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	7/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1679630	G G	GTGTGTGT others(239): Show GTGTGTGTGTCTATAAATGGTGTGTGTGTAAATGGTGTGTGTGGATGGCA CATGTGTGTGGTCTGTGTCTGCATGTGTGTCTATAAATGCTGTGTGTGTG TGGATGGTGTGTGCGTGTATGTGCGTGTGTGTGGTTTGTATCTGCATGTG TGTGTTTATAAATGGTGTGTGTAAATGGTGTGTGTGTAAATGGTGTGTGT GTGGATGGTGTGTGTGTGTATGTGTGTGTGTGTGGTTTGTGTCTGCA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	322	0.0031	246	c.730 others(261): Show c.730+562_730+563insTGCAGACACAAACCACACACACACACATAC ACACACACACCATCCACACACACACCATTTACACACACACCATTTACACA CACCATTTATAAACACACACATGCAGATACAAACCACACACACGCACATA CACGCACACACCATCCACACACACACAGCATTTATAGACACACATGCAGA CACAGACCACACACATGTGCCATCCACACACACCATTTACACACACACCA TTTATAGACACACACA	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	7/22			chr2	TogoVar
RAD17_chr5_69364818_69419801	69377646	T T	TATGCATA others(239): Show TATGCATATATATGCATATATATGTATGCATATATATATGCATATATATG CATACATATATATGCATATATATGTATACATATATATGCATATATATGTA TGCATATATATGTATACATATATATGCATATATATATGCATACATATATA TGCATATATATATGCATACATATATATGCATACATATATGCATGCATATA TATATGCATACATATATGCATGCATATATATATGCATACATATATGC	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	359	0.0028	246	c.351 others(263): Show c.351+2947_351+2948insGCATATATATGTATGCATATATATATGC ATATATATGCATACATATATATGCATATATATGTATACATATATATGCAT ATATATGTATGCATATATATGTATACATATATATGCATATATATATGCAT ACATATATATGCATATATATATGCATACATATATATGCATACATATATGC ATGCATATATATATGCATACATATATGCATGCATATATATATGCATACAT ATATGCATGCATATATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD17_chr5_69364818_69419801	69377646	T T	TATGCATA others(239): Show TATGCATATATATGCATATATATGTATGCATATATATATGCATATATATG TATACATATATATGCATATATATGTATACATATATATGCATACATATGTA TGCATATATATGTATACATATATATGCATATATATATGCATACATATATA TGCATATATATATGCATACATATATATGCATACATATATGCATGCATATA TATATGCATACATATATGCATGCATATATATATGCATACATATATGC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18984.hp2 NA18954.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0242 a0001c0001t0001g0222 a0001c0001t0001g0242	2	359	0.0056	246	c.351 others(263): Show c.351+2947_351+2948insGCATATATATGTATGCATATATATATGC ATATATATGTATACATATATATGCATATATATGTATACATATATATGCAT ACATATGTATGCATATATATGTATACATATATATGCATATATATATGCAT ACATATATATGCATATATATATGCATACATATATATGCATACATATATGC ATGCATATATATATGCATACATATATGCATGCATATATATATGCATACAT ATATGCATGCATATATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD17_chr5_69364818_69419801	69377646	T T	TATGCATA others(239): Show TATGCATATATATGCATATATATGTATGCATATATATATGCATATATATG TATACATATATATGCATATATATGTATACATATATATGCATATATATGTA TGCATATATATGTATACATATATATGCATATATATATGCATACATATATA TGCATACATATATGCATACATATATATGCATACATATATGCATGCATATA TATATGCATACATATATGCATGCATATATATATGCATACATATATGC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03041.hp1 HG02109.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0218 a0001c0001t0001g0219	2	359	0.0056	246	c.351 others(263): Show c.351+2947_351+2948insGCATATATATGTATGCATATATATATGC ATATATATGTATACATATATATGCATATATATGTATACATATATATGCAT ATATATGTATGCATATATATGTATACATATATATGCATATATATATGCAT ACATATATATGCATACATATATGCATACATATATATGCATACATATATGC ATGCATATATATATGCATACATATATGCATGCATATATATATGCATACAT ATATGCATGCATATATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD17_chr5_69364818_69419801	69377646	T T	TATGCATA others(239): Show TATGCATATATATGCATATATATGTATGCATATATATATGCATATATATG TATACATATATATGCATATATATGTATACATATATATGCATATATATGTA TGCATATATATGTATACATATATATGCATATATATATGCATACATATATA TGCATATATATATGCATACATATATATGCATACATATATGCATGCATATA TATATGCATACATATATGCATGCATATATATATGCATACATATATGC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	359	0.0028	246	c.351 others(263): Show c.351+2947_351+2948insGCATATATATGTATGCATATATATATGC ATATATATGTATACATATATATGCATATATATGTATACATATATATGCAT ATATATGTATGCATATATATGTATACATATATATGCATATATATATGCAT ACATATATATGCATATATATATGCATACATATATATGCATACATATATGC ATGCATATATATATGCATACATATATGCATGCATATATATATGCATACAT ATATGCATGCATATATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASA3_chr13_113972783_114137623	114043968	G G	GCCCCCCC others(239): Show GCCCCCCCCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGC TGAGCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCCCGCCCCGCCTCA CTCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCCCGCCTC ACTCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCACCCGCC TCACTCGCTGAGCCCCCCCCCGCCTCACTCGCTGAGCCCCCCCCGCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0009 a0002c0004t0009	a0002c0004t0009g0010 a0002c0004t0009g0010	1	67	0.0149	246	c.278 others(263): Show c.278-2875_278-2874insGGCGGGGGGGGCTCAGCGAGTGAGGCGG GGGGGGGCTCAGCGAGTGAGGCGGGTGGGGGAGCTCAGCGAGTGAGGCGG GGCGGGGGGCTCAGCGAGTGAGGCGGGGGGGGAGCTCAGCGAGTGAGGCG GGGCGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGGGCTCAGCGAGTG AGGCGGGGCGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGA GTGAGGCGGGGGGGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar

Search by Variant

Search

Search Results