Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
MUC4_chr3_195741771_195816929	195777105	TCATACCT others(83): Show TCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACATCCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACACC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02027.hp2 HG02074.hp1 others(12): Show HG00423.hp2 HG02027.hp2 HG02074.hp1 NA18947.hp1 NA18959.hp2 NA18960.hp2 NA18973.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18988.hp2 NA18999.hp1 NA19074.hp2 NA19081.hp1 NA19086.hp2	a0001 a0043 a0047 a0001 a0043 a0047	a0001c0001 a0001c0157 a0043c0160 others(1): Show a0001c0001 a0001c0157 a0043c0160 a0047c0161	a0001c0001t0002 a0001c0157t0002 a0043c0160t0002 others(1): Show a0001c0001t0002 a0001c0157t0002 a0043c0160t0002 a0047c0161t0002	a0001c0001t0002g0001 a0001c0001t0002g0029 a0001c0001t0002g0032 others(11): Show a0001c0001t0002g0001 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0157t0002g0038 a0043c0160t0002g0042 a0047c0161t0002g0043	15	249	0.0602	-90	c.129 others(111): Show c.12943+1108_12943+1197delGGTGTGGAAGGTATGGGTGTGGAA GGTATGGGTGTGGAAGGTATGGATGTGGAAGGTATGGGTGTGGAAGGTAT GGGTGTGGAAGGTATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777392	ATACCTTC others(83): Show ATACCTTCCACACCCTTACCTTCCACACCCATACCTTCCACACCCATACC TTCCACACCCATACCTTCCACACCCATACCTTCCACACCCT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA19004.hp1 HG01261.hp2 NA19004.hp1	a0021 a0164 a0021 a0164	a0021c0097 a0164c0049 a0021c0097 a0164c0049	a0021c0097t0001 a0164c0049t0001 a0021c0097t0001 a0164c0049t0001	a0021c0097t0001g0118 a0164c0049t0001g0054 a0021c0097t0001g0118 a0164c0049t0001g0054	2	249	0.0080	-90	c.129 others(109): Show c.12943+821_12943+910delAGGGTGTGGAAGGTATGGGTGTGGAA GGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTAA GGGTGTGGAAGGTA	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUSK_chr9_110663791_110811558	110701675	ATTTTTTT others(83): Show ATTTTTTTTACTTTACTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0029 a0001c0001t0010g0029	1	326	0.0031	-90	c.628 others(107): Show c.628+4213_628+4302delTTTTTACTTTACTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYDGF_chr19_4652545_4675342	4663503	ACTCTCCA others(83): Show ACTCTCCACCCACCCCATCCTCATTCTACACAGCCTCCAATCTATCCTCC CCACCCACCCCACCCTCATTCTACACAGCCTCCAATCTACC	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	410	0.0024	-90	c.287 others(107): Show c.287+1283_287+1372delGGTAGATTGGAGGCTGTGTAGAATGAGG GTGGGGTGGGTGGGGAGGATAGATTGGAGGCTGTGTAGAATGAGGATGGG GTGGGTGGAGAG	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYDGF_chr19_4652545_4675342	4671880	TATATATA others(83): Show TATATATATATTCATATATTCACATATGTGAATATATATATTCATATATT CACATATGTGAATATATATATTCATATATTCACATATGTGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01884.hp2 HG02015.hp2 others(19): Show HG00609.hp1 HG01884.hp2 HG02015.hp2 HG02132.hp2 HG02523.hp1 HG03486.hp1 NA18943.hp1 NA18944.hp1 NA18946.hp2 NA18954.hp1 NA18963.hp2 NA18969.hp1 NA18973.hp2 NA18977.hp1 NA18982.hp1 NA18984.hp1 NA19005.hp2 NA19057.hp2 NA19064.hp1 NA19074.hp2 NA19079.hp2 NA19086.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0005 a0003c0004 a0002c0002 a0002c0005 a0003c0004	a0002c0002t0002 a0002c0005t0001 a0003c0004t0002 a0002c0002t0002 a0002c0005t0001 a0003c0004t0002	a0002c0002t0002g0019 a0002c0002t0002g0112 a0002c0002t0002g0113 others(18): Show a0002c0002t0002g0019 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0121 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0139 a0002c0002t0002g0140 a0002c0002t0002g0143 a0002c0002t0002g0145 a0002c0005t0001g0126 a0003c0004t0002g0111	22	410	0.0537	-90	c.-16 others(101): Show c.-1636_-1547delTCACATATGTGAATATATGAATATATATATTCAC ATATGTGAATATATGAATATATATATTCACATATGTGAATATATGAATAT ATATAT	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding		1539		chr19	TogoVar
MYO1F_chr19_8515778_8582442	8543696	GTGGTGGT others(83): Show GTGGTGGTGGTGCTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGCT GGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGC	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	342	0.0029	-90	c.152 others(107): Show c.1524+511_1524+600delGCACCACCAGCACCACCAGCACCACCAC CACCACCACCACCAGCACCACCAGCACCACCAGCACCACCACCACCACCA GCACCACCACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
NCAPH2_chr22_50503224_50529780	50507735	CCCCAGGC others(83): Show CCCCAGGCCCCGCCTCCTCACCGCCCCGCCCGCCCAATCCGTGGCAGCCC CAAGCCCCGCCTCCTCGGCCCGCCCGCCCGCCCGCGGCAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG02165.hp1 HG02647.hp2 others(8): Show HG01167.hp1 HG02165.hp1 HG02647.hp2 HG02922.hp2 HG03098.hp2 HG03239.hp2 HG03669.hp1 HG04184.hp2 NA19005.hp2 NA19030.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0015	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0002t0001 a0001c0006t0002 a0001c0015t0005	a0001c0001t0002g0047 a0001c0001t0002g0212 a0001c0001t0005g0024 others(8): Show a0001c0001t0002g0047 a0001c0001t0002g0212 a0001c0001t0005g0024 a0001c0001t0005g0049 a0001c0001t0005g0053 a0001c0001t0005g0054 a0001c0001t0008g0024 a0001c0001t0010g0051 a0001c0002t0001g0048 a0001c0006t0002g0231 a0001c0015t0005g0050	11	384	0.0287	-90	c.-60 others(99): Show c.-602_-513delCCCAGGCCCCGCCTCCTCACCGCCCCGCCCGCCCAA TCCGTGGCAGCCCCAAGCCCCGCCTCCTCGGCCCGCCCGCCCGCCCGCGG CAGT	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		488		chr22	TogoVar
NCOR2_chr12_124319415_124572612	124373744	AGTGGACA others(83): Show AGTGGACAATCATGAGGCCAGTGCGTGTGCAGGGGCCCTGGGCACGGTGG ACAATCATGAGGCCAGTGCGTGTGCAGGGGCCCTGGGCACG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0014 a0014	a0014c0103 a0014c0103	a0014c0103t0054 a0014c0103t0054	a0014c0103t0054g0006 a0014c0103t0054g0006	1	234	0.0043	-90	c.221 others(107): Show c.2218+579_2218+668delCGTGCCCAGGGCCCCTGCACACGCACTG GCCTCATGATTGTCCACCGTGCCCAGGGCCCCTGCACACGCACTGGCCTC ATGATTGTCCAC	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	21/48			chr12	TogoVar
NEU4_chr2_241804193_241822413	241807845	ACCCTCCC others(83): Show ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCC CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0016 a0001c0004t0001g0016	1	319	0.0031	-90	c.-14 others(101): Show c.-1432_-1343delCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACC CTCCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1347		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807884	ACCTTCCC others(83): Show ACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCC CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0109 a0001c0004t0001g0109	1	319	0.0031	-90	c.-13 others(101): Show c.-1393_-1304delCCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTC TGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1308		chr2	TogoVar
NKX1-1_chr4_1397932_1411442	1398077	AGGGTGTT others(83): Show AGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGT GTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0002 a0002c0002t0000g0002	1	382	0.0026	-90	c.47 others(101): Show c.4765_*4854delGGCATCCAACCTGATCTACCCACATCCAGATGCC CGAAAACACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAA ACACCC	NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding		4854		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398193	GGTAGATC others(83): Show GGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG02622.hp1 NA18965.hp1 HG01981.hp2 HG02622.hp1 NA18965.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0008 a0001c0001 a0009c0008	a0001c0001t0000 a0009c0008t0000 a0001c0001t0000 a0009c0008t0000	a0001c0001t0000g0001 a0009c0008t0000g0020 a0001c0001t0000g0001 a0009c0008t0000g0020	3	382	0.0079	-90	c.46 others(101): Show c.4649_*4738delTCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTG ATCTAC	NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding		4738		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398347	AGGGTGTT others(83): Show AGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCCGGGT GTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01993.hp1 HG03654.hp2 HG01496.hp1 HG01993.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0006 a0001c0001t0000g0027 a0001c0001t0000g0001 a0001c0001t0000g0006 a0001c0001t0000g0027	3	382	0.0079	-90	c.44 others(101): Show c.4495_*4584delGGCATCCAACCTGATCTACCCACATCCAGATGCC CGAAAACACCCGGCATCCAACCTGATCTACTCACATCCAGATGCCCGAAA ACACCC	NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding		4584		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398373	AGTAGATC others(83): Show AGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 NA18982.hp2 HG02258.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	2	382	0.0052	-90	c.44 others(101): Show c.4469_*4558delCCACATCCAGATGCCCGAAAACACCCGGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTG ATCTAC	NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding		4558		chr4	TogoVar
NOP14_chr4_2932936_2968406	2960736	TAATATAT others(83): Show TAATATATTAATATTATAATCACATTAATATTAATATATTAATATTATAA TCACATTAATATTAATATATTAATATTATAATCACATTATC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03139.hp2 HG06807.hp2 HG02145.hp2 HG03139.hp2 HG06807.hp2	a0009 a0010 a0009 a0010	a0009c0012 a0010c0008 a0009c0012 a0010c0008	a0009c0012t0013 a0010c0008t0014 a0009c0012t0013 a0010c0008t0014	a0009c0012t0013g0060 a0009c0012t0013g0061 a0010c0008t0014g0055 a0009c0012t0013g0060 a0009c0012t0013g0061 a0010c0008t0014g0055	3	422	0.0071	-90	c.195 others(107): Show c.195+2299_195+2388delGATAATGTGATTATAATATTAATATATT AATATTAATGTGATTATAATATTAATATATTAATATTAATGTGATTATAA TATTAATATATT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NRCAM_chr7_108142649_108461436	108177631	ATATATAT others(83): Show ATATATATATATATATATATATATATATATGTATATACGTGTATATATAT ACGTGTATATATATATACACGTATATATATATATACGTGTG	A A	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0154 a0001c0002t0001g0154	1	208	0.0048	-90	c.297 others(107): Show c.2974+269_2974+358delCACACGTATATATATATATACGTGTATA TATATATACACGTATATATATACACGTATATACATATATATATATATATA TATATATATATA	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	26/32			chr7	TogoVar
NRIP3_chr11_8975576_9009001	8978622	AGGTGGGG others(83): Show AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGA GGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCATCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01074.hp2 HG01361.hp2 others(4): Show HG00280.hp1 HG01074.hp2 HG01361.hp2 HG01515.hp2 HG02698.hp2 HG03654.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0020 a0001c0001t0004g0243 a0001c0001t0004g0012 a0001c0001t0004g0020 a0001c0001t0004g0243	7	406	0.0172	-90	c.48 others(101): Show c.4833_*4922delGGATGGGGCGGCTGGCCGGGCGGAGGGCTGACCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACC	NRIP3	ENSG00000175352.12	transcript	ENST00000309166.8	protein_coding		1953		chr11	TogoVar
NRIP3_chr11_8975576_9009001	8978630	GGGTCAGC others(83): Show GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGG GGTCAGCCCTCCGCCCGGCCAGCCGCCCCATCCGGGAGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0260 a0001c0001t0023g0260	1	406	0.0025	-90	c.48 others(101): Show c.4825_*4914delTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGAGG GCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGG CTGACC	NRIP3	ENSG00000175352.12	transcript	ENST00000309166.8	protein_coding		1945		chr11	TogoVar
NRXN3_chr14_78165373_79873291	79845652	CGGAGACG others(83): Show CGGAGACGGGGAGAGAGACGGAGACGGGGAGAGAGACGGAGACGGGGAGA GAGACGGAGACGGGGAGAGAGAGGGAGACGGGGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0006 a0001c0001t0010g0006	1	24	0.0417	-90	c.409 others(111): Show c.4094-15672_4094-15583delCGGAGACGGGGAGAGAGACGGAGA CGGGGAGAGAGACGGAGACGGGGAGAGAGAGGGAGACGGGGAGAGAGAGG GAGACGGGGAGAGAGA	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79845688	CGGAGACG others(83): Show CGGAGACGGGGAGAGAGACGGAGACGGGGAGAGAGAGGGAGACGGGGAGA GAGAGGGAGACGGGGAGAGAGAGGGAGACGGGGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0005 a0001c0004t0001g0005	1	24	0.0417	-90	c.409 others(111): Show c.4094-15636_4094-15547delCGGAGACGGGGAGAGAGAGGGAGA CGGGGAGAGAGAGGGAGACGGGGAGAGAGAGGGAGACGGGGAGAGAGAGG GAGACGGGGAGAGAGA	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NSMF_chr9_137442570_137464334	137450460	CTTGATCT others(83): Show CTTGATCTCCCCCACCACATGCCTCTTCCCTTTGATCTCCCCCACCACAC GCCTCTTCCCTTTGATCTCCCCCACCACACACCTCTTCCCT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG02258.hp2 others(7): Show HG01891.hp1 HG02145.hp2 HG02258.hp2 HG02451.hp1 HG02809.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0001 a0001c0001t0002 a0001c0001t0014	a0001c0001t0001g0012 a0001c0001t0001g0088 a0001c0001t0001g0151 others(4): Show a0001c0001t0001g0012 a0001c0001t0001g0088 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0002g0154 a0001c0001t0014g0061	10	414	0.0242	-90	c.123 others(107): Show c.1237-295_1237-206delAGGGAAGAGGTGTGTGGTGGGGGAGATC AAAGGGAAGAGGCGTGTGGTGGGGGAGATCAAAGGGAAGAGGCATGTGGT GGGGGAGATCAA	NSMF	ENSG00000165802.23	transcript	ENST00000371475.9	protein_coding	12/15			chr9	TogoVar
NSMF_chr9_137442570_137464334	137450490	TTTGATCT others(83): Show TTTGATCTCCCCCACCACACGCCTCTTCCCTTTGATCTCCCCCACCACAC ACCTCTTCCCTTTGATCTCCCCCACCACACGCCTCTTCCCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00408.hp2 others(158): Show HG00099.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp1 HG02683.hp1 HG02723.hp2 HG02886.hp1 HG02965.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03579.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04199.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18960.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18988.hp1 NA18989.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19240.hp2 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(50): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0115 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0002g0018 a0001c0001t0006g0031 a0001c0001t0006g0057 a0001c0001t0006g0059 a0001c0001t0008g0027 a0001c0001t0013g0060 a0001c0001t0015g0097 a0001c0001t0020g0159 a0001c0001t0021g0117 a0001c0001t0024g0098 a0001c0001t0025g0114 a0001c0001t0026g0064 a0001c0001t0028g0172 a0001c0005t0001g0166	161	414	0.3889	-90	c.123 others(107): Show c.1237-325_1237-236delGGGGAAGAGGCGTGTGGTGGGGGAGATC AAAGGGAAGAGGTGTGTGGTGGGGGAGATCAAAGGGAAGAGGCGTGTGGT GGGGGAGATCAA	NSMF	ENSG00000165802.23	transcript	ENST00000371475.9	protein_coding	12/15			chr9	TogoVar
NT5C1A_chr1_39646229_39677107	39663985	TCTGTCCT others(83): Show TCTGTCCTGATTACGCAGTGTGTATGTCACACAGGTGGTTAAATATTTTT ACGATCAACCCTGCTCCCAAGAATTTGAAATTAGGATTTAA	T T	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	326	0.0031	-90	c.434 others(105): Show c.434-641_434-552delTTAAATCCTAATTTCAAATTCTTGGGAGCA GGGTTGATCGTAAAAATATTTAACCACCTGTGTGACATACACACTGCGTA ATCAGGACAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NXN_chr17_794310_984776	806180	CACAACCC others(83): Show CACAACCCCCTCCCCAGGGCTGCAGCCCCCGCCGTCTGCACCCCAGCACA ACCCCCTCCCCAGGGCTGCAGCCCCCGCCGTCTGCACCCCA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02970.hp1 HG03579.hp1 others(1): Show HG02109.hp2 HG02970.hp1 HG03579.hp1 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0008 a0001c0003t0001 a0001c0003t0008	a0001c0003t0001g0042 a0001c0003t0001g0223 a0001c0003t0008g0022 others(1): Show a0001c0003t0001g0042 a0001c0003t0001g0223 a0001c0003t0008g0022 a0001c0003t0008g0179	4	242	0.0165	-90	c.821 others(106): Show c.821-1023_821-934delTGGGGTGCAGACGGCGGGGGCTGCAGCCC TGGGGAGGGGGTTGTGCTGGGGTGCAGACGGCGGGGGCTGCAGCCCTGGG GAGGGGGTTGT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7			chr17	TogoVar
NXN_chr17_794310_984776	815408	CGATGAGG others(83): Show CGATGAGGGCGAGTGTCCACTCTAGATCCCTAAGCTCTGTAGGTTTTGAA GGCGATGAGGCACTCACAGTTCAGCTGACTTCCATCCGTAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00544.hp2 others(81): Show HG00099.hp2 HG00323.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01167.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01496.hp2 HG01928.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02257.hp2 HG02273.hp2 HG02630.hp2 HG02809.hp2 HG03098.hp1 HG03130.hp1 HG03669.hp1 HG03704.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18943.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp1 NA18955.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18980.hp1 NA18983.hp1 NA18984.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19060.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19088.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0030 a0001c0010t0006	a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0024 others(81): Show a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0131 a0001c0001t0001g0138 a0001c0001t0001g0195 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0002g0021 a0001c0001t0002g0026 a0001c0001t0002g0037 a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0067 a0001c0001t0002g0072 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0112 a0001c0001t0002g0128 a0001c0001t0002g0188 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0003g0020 a0001c0001t0003g0033 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0078 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0097 a0001c0001t0003g0106 a0001c0001t0003g0117 a0001c0001t0003g0127 a0001c0001t0003g0143 a0001c0001t0003g0153 a0001c0001t0003g0165 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0193 a0001c0001t0003g0205 a0001c0001t0003g0210 a0001c0001t0004g0039 a0001c0001t0004g0096 a0001c0001t0004g0129 a0001c0001t0004g0152 a0001c0001t0004g0155 a0001c0001t0004g0224 a0001c0001t0005g0032 a0001c0001t0005g0059 a0001c0001t0006g0099 a0001c0001t0006g0100 a0001c0001t0006g0123 a0001c0001t0006g0144 a0001c0001t0006g0156 a0001c0001t0006g0168 a0001c0001t0006g0184 a0001c0001t0006g0202 a0001c0001t0007g0040 a0001c0001t0007g0073 a0001c0001t0013g0220 a0001c0001t0015g0239 a0001c0001t0015g0240 a0001c0001t0017g0002 a0001c0001t0018g0005 a0001c0001t0020g0164 a0001c0001t0030g0237 a0001c0010t0006g0159	84	242	0.3471	-90	c.820 others(107): Show c.820+3941_820+4030delATACGGATGGAAGTCAGCTGAACTGTGA GTGCCTCATCGCCTTCAAAACCTACAGAGCTTAGGGATCTAGAGTGGACA CTCGCCCTCATC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7			chr17	TogoVar
NXN_chr17_794310_984776	894110	TCCCTGGA others(83): Show TCCCTGGAAGCCAGAGGAAGCATCTCAAACGCCCTGGAAGCCAGAGGAAG CATCTCAAACGCCCTGGAAGCCAGAGGAAGCATCTCAAACG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02886.hp1 HG00735.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0191 a0001c0001t0011g0013 a0001c0001t0002g0191 a0001c0001t0011g0013	2	242	0.0083	-90	c.361 others(109): Show c.361-68122_361-68033delCGTTTGAGATGCTTCCTCTGGCTTCC AGGGCGTTTGAGATGCTTCCTCTGGCTTCCAGGGCGTTTGAGATGCTTCC TCTGGCTTCCAGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OMP_chr11_77097840_77108331	77105639	TCCTCAGG others(83): Show TCCTCAGGCAGCTCCCAACCCCCTCCCAGACTCAGGCCTTCCAGAGTGAA CAGCTTGGTTCTGTGAAGGTCCTTCCAGCCCCACCCTCCAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0000 a0001c0002t0000	a0001c0002t0000g0000 a0001c0002t0000g0000	1	440	0.0023	-90	c.23 others(101): Show c.2309_*2398delCCTCAGGCAGCTCCCAACCCCCTCCCAGACTCAG GCCTTCCAGAGTGAACAGCTTGGTTCTGTGAAGGTCCTTCCAGCCCCACC CTCCAG	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		2309		chr11	TogoVar
OPCML_chr11_132409981_133537501	133458201	CGTGTGTG others(83): Show CGTGTGTGTATATATACACATATATACACGTGTGTGTATATATACACATA TATATACACGTGTGTGTATATATACACACATATATACACGT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	68	0.0147	-90	c.61+ others(107): Show c.61+73973_61+74062delACGTGTATATATGTGTGTATATATACAC ACACGTGTATATATATGTGTATATATACACACACGTGTATATATGTGTAT ATATACACACAC	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OR11H4_chr14_20234286_20249349	20248871	ATACTTTA others(83): Show ATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCATGTTTGTTACATA TGTATACATGTGCCATGTTGGTGTGCTGCATCCATTAACTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0067	1	439	0.0023	-90	c.51 others(101): Show c.5106_*5195delTACTTTAAGTTTTAGGGTACATGTGCACAACGTG CATGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCATCCAT TAACTC	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		4523		chr14	TogoVar
OR14A2_chr1_247717957_247753141	247742275	CACACGCA others(83): Show CACACGCACACACACACACCATGAAGTGGAGACTGTGTTCACCACTGTGG AATGTAATCTGACATCACAAGATTGAAATTTTGTTGATAAT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01243.hp1 HG01346.hp2 others(11): Show HG00741.hp1 HG01243.hp1 HG01346.hp2 HG01361.hp2 HG02257.hp1 HG02451.hp1 HG02486.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02818.hp2 HG03130.hp1 HG03139.hp2 HG03471.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0001 a0004c0004t0001 a0003c0003t0001 a0004c0004t0001	a0003c0003t0001g0011 a0003c0003t0001g0022 a0004c0004t0001g0032 others(5): Show a0003c0003t0001g0011 a0003c0003t0001g0022 a0004c0004t0001g0032 a0004c0004t0001g0065 a0004c0004t0001g0078 a0004c0004t0001g0079 a0004c0004t0001g0082 a0004c0004t0001g0083	14	348	0.0402	-90	c.-43 others(109): Show c.-434+5506_-434+5595delATTATCAACAAAATTTCAATCTTGTG ATGTCAGATTACATTCCACAGTGGTGAACACAGTCTCCACTTCATGGTGT GTGTGTGTGCGTGT	OR14A2	ENSG00000241128.3	transcript	ENST00000366485.2	protein_coding	1/4			chr1	TogoVar
OR14K1_chr1_247733615_247744559	247742275	CACACGCA others(83): Show CACACGCACACACACACACCATGAAGTGGAGACTGTGTTCACCACTGTGG AATGTAATCTGACATCACAAGATTGAAATTTTGTTGATAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01243.hp2 HG01346.hp2 others(10): Show HG00741.hp2 HG01243.hp2 HG01346.hp2 HG01361.hp2 HG02257.hp2 HG02451.hp1 HG02486.hp2 HG02647.hp1 HG02683.hp1 HG02818.hp2 HG03130.hp2 HG03139.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	13	392	0.0332	-90	c.27 others(101): Show c.2717_*2806delACACGCACACACACACACCATGAAGTGGAGACTG TGTTCACCACTGTGGAATGTAATCTGACATCACAAGATTGAAATTTTGTT GATAAT	OR14K1	ENSG00000153230.4	transcript	ENST00000283225.2	protein_coding		2717		chr1	TogoVar
OR2L8_chr1_247943858_247954796	247944295	TAATTATT others(83): Show TAATTATTTTATTGTTTGTTTTTAAGTTTCAGGGTACATATGCAGGATGT GCAGTTTTGTTACATAGGTAACCATGTGGCATGGTGGTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0000 a0004c0007t0000	a0004c0007t0000g0000 a0004c0007t0000g0000	1	379	0.0026	-90	c.-45 others(101): Show c.-4562_-4473delAATTATTTTATTGTTTGTTTTTAAGTTTCAGGGT ACATATGCAGGATGTGCAGTTTTGTTACATAGGTAACCATGTGGCATGGT GGTTTG	OR2L8	ENSG00000279263.1	transcript	ENST00000623922.1	protein_coding		4562		chr1	TogoVar
OR2V2_chr5_181142586_181164285	181160788	CTGGGGGT others(83): Show CTGGGGGTGGGGCCAGGACGAGCATCGTCACTGGGGGTGGGGCCAGGACG AGCATCGTCACTGGGGGTGGGGCCAGGACGAGCATCGTCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA18971.hp2 NA18977.hp1 others(1): Show NA18953.hp1 NA18971.hp2 NA18977.hp1 NA18986.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0010 a0002c0002t0004 a0002c0002t0010	a0002c0002t0004g0003 a0002c0002t0010g0003 a0002c0002t0004g0003 a0002c0002t0010g0003	4	424	0.0094	-90	c.48 others(101): Show c.4899_*4988delTGGGGGTGGGGCCAGGACGAGCATCGTCACTGGG GGTGGGGCCAGGACGAGCATCGTCACTGGGGGTGGGGCCAGGACGAGCAT CGTCGT	OR2V2	ENSG00000182613.3	transcript	ENST00000641492.1	protein_coding		1504		chr5	TogoVar
OTUD7A_chr15_31470398_31875673	31510951	TATATGTA others(83): Show TATATGTATATCTATATGTAACATATGTATATCTATATGTAACATATGTA TATCTATATGTAACATACATGTATATCTATATGTAACATAC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0010 a0001c0001t0011g0010	1	244	0.0041	-90	c.894 others(107): Show c.894-7223_894-7134delGTATGTTACATATAGATATACATGTATG TTACATATAGATATACATATGTTACATATAGATATACATATGTTACATAT AGATATACATAT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
P2RY12_chr3_151331843_151389753	151368614	TATTTTAT others(83): Show TATTTTATTTTATTTTATTTCATTTCATTTCATTTCATTTCATTTCATTT CATTTCATTTCATGTCATTTCATTTTATTTCATTTCATTTC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA21309.hp2 HG02280.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0282 a0001c0001t0001g0141 a0001c0001t0001g0282	2	396	0.0051	-90	c.-18 others(111): Show c.-180+15988_-180+16077delGAAATGAAATGAAATAAAATGAAA TGACATGAAATGAAATGAAATGAAATGAAATGAAATGAAATGAAATGAAA TAAAATAAAATAAAAT	P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2			chr3	TogoVar
PAPPA_chr9_116148791_116407321	116289131	TATATATA others(83): Show TATATATATATATATATATATATATATATAGCATATATATATAGCATATA TGTAGCATATATATAGCATATATATATAGCATATATGTAGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00408.hp2 others(63): Show HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02155.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02615.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02922.hp1 HG03041.hp1 HG03098.hp1 HG03209.hp1 HG03453.hp1 HG03579.hp1 HG03704.hp1 HG03710.hp1 HG04184.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp2 NA18952.hp1 NA18969.hp2 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19088.hp2 NA19091.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0011 a0014 a0018	a0001c0001 a0001c0002 a0001c0005 others(18): Show a0001c0001 a0001c0002 a0001c0005 a0001c0040 a0001c0047 a0002c0003 a0002c0004 a0002c0006 a0002c0016 a0002c0056 a0003c0007 a0003c0020 a0003c0022 a0005c0014 a0006c0034 a0007c0059 a0008c0026 a0009c0013 a0011c0012 a0014c0054 a0018c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0019 a0001c0001t0021 a0001c0001t0030 a0001c0001t0051 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0014 a0001c0002t0017 a0001c0002t0022 a0001c0002t0063 a0001c0005t0002 a0001c0005t0003 a0001c0005t0012 a0001c0005t0062 a0001c0040t0002 a0001c0047t0002 a0002c0003t0001 a0002c0003t0006 a0002c0003t0047 a0002c0004t0004 a0002c0004t0007 a0002c0004t0020 a0002c0006t0006 a0002c0006t0015 a0002c0016t0032 a0002c0056t0058 a0003c0007t0004 a0003c0007t0037 a0003c0020t0011 a0003c0022t0003 a0005c0014t0006 a0006c0034t0020 a0007c0059t0013 a0008c0026t0012 a0009c0013t0001 a0011c0012t0011 a0014c0054t0001 a0018c0037t0003	a0001c0001t0001g0036 a0001c0001t0001g0054 a0001c0001t0001g0110 others(63): Show a0001c0001t0001g0036 a0001c0001t0001g0054 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0124 a0001c0001t0001g0132 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0198 a0001c0001t0002g0013 a0001c0001t0002g0044 a0001c0001t0002g0056 a0001c0001t0003g0050 a0001c0001t0003g0118 a0001c0001t0003g0217 a0001c0001t0005g0151 a0001c0001t0006g0206 a0001c0001t0019g0031 a0001c0001t0019g0177 a0001c0001t0019g0178 a0001c0001t0021g0201 a0001c0001t0030g0074 a0001c0001t0051g0034 a0001c0002t0004g0183 a0001c0002t0004g0228 a0001c0002t0007g0059 a0001c0002t0007g0179 a0001c0002t0008g0071 a0001c0002t0008g0227 a0001c0002t0010g0165 a0001c0002t0014g0109 a0001c0002t0014g0211 a0001c0002t0017g0042 a0001c0002t0022g0121 a0001c0002t0022g0173 a0001c0002t0063g0188 a0001c0005t0002g0101 a0001c0005t0003g0095 a0001c0005t0012g0087 a0001c0005t0062g0105 a0001c0040t0002g0053 a0001c0047t0002g0015 a0002c0003t0001g0197 a0002c0003t0006g0057 a0002c0003t0047g0073 a0002c0004t0004g0027 a0002c0004t0007g0146 a0002c0004t0020g0083 a0002c0006t0006g0164 a0002c0006t0006g0205 a0002c0006t0015g0025 a0002c0016t0032g0011 a0002c0056t0058g0003 a0003c0007t0004g0134 a0003c0007t0004g0137 a0003c0007t0037g0138 a0003c0020t0011g0131 a0003c0022t0003g0199 a0005c0014t0006g0023 a0006c0034t0020g0187 a0007c0059t0013g0221 a0008c0026t0012g0001 a0009c0013t0001g0019 a0011c0012t0011g0136 a0014c0054t0001g0098 a0018c0037t0003g0220	66	234	0.2821	-90	c.295 others(111): Show c.2954-13614_2954-13525delTATATATATATATATATAGCATAT ATATATAGCATATATGTAGCATATATATAGCATATATATATAGCATATAT GTAGCATATATATATA	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PAQR5_chr15_69293912_69412780	69383764	CTCATGGT others(83): Show CTCATGGTGGAGGGTGAGTGGGCCTTTGTGTTCATGGTGGAGGGTGAGTG GGCCTTTGTGTTCATGGTGGAGGGTGAGTGGGCCTTTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(236): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0003t0003 a0001c0003t0011 a0001c0003t0020 a0001c0004t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0009 a0002c0002t0023 a0002c0002t0024	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(236): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0002g0015 a0001c0001t0002g0034 a0001c0001t0002g0067 a0001c0001t0002g0078 a0001c0001t0002g0094 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0144 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0181 a0001c0001t0002g0233 a0001c0001t0002g0236 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0003g0005 a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0004g0139 a0001c0001t0004g0141 a0001c0001t0004g0158 a0001c0001t0004g0162 a0001c0001t0004g0218 a0001c0001t0004g0269 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0005g0189 a0001c0001t0005g0226 a0001c0001t0006g0229 a0001c0001t0006g0244 a0001c0001t0006g0245 a0001c0001t0008g0092 a0001c0001t0008g0095 a0001c0001t0012g0156 a0001c0001t0013g0113 a0001c0001t0014g0006 a0001c0001t0015g0225 a0001c0001t0016g0109 a0001c0001t0017g0053 a0001c0001t0018g0214 a0001c0001t0022g0049 a0001c0003t0003g0248 a0001c0003t0011g0134 a0001c0003t0020g0132 a0001c0004t0001g0029 a0001c0004t0001g0254 a0002c0002t0001g0032 a0002c0002t0001g0044 a0002c0002t0001g0127 a0002c0002t0001g0143 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0180 a0002c0002t0001g0205 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0234 a0002c0002t0002g0004 a0002c0002t0002g0076 a0002c0002t0002g0085 a0002c0002t0002g0097 a0002c0002t0002g0112 a0002c0002t0002g0136 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0155 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0168 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0176 a0002c0002t0002g0191 a0002c0002t0002g0194 a0002c0002t0002g0198 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0247 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0266 a0002c0002t0003g0133 a0002c0002t0003g0135 a0002c0002t0003g0188 a0002c0002t0007g0169 a0002c0002t0007g0200 a0002c0002t0007g0204 a0002c0002t0009g0050 a0002c0002t0009g0227 a0002c0002t0023g0138 a0002c0002t0024g0167	239	284	0.8416	-90	c.180 others(105): Show c.180-802_180-713delGCCTTTGTGTTCATGGTGGAGGGTGAGTGG GCCTTTGTGTTCATGGTGGAGGGTGAGTGGGCCTTTGTGTTCATGGTGGA GGGTGAGTGG	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PCBP3_chr21_45638725_45947450	45798619	CGAATGGA others(83): Show CGAATGGATGTGTACATGGATGAATGCATGGATCCATAGAGAGAGTGAAT GGATGTGTACATGGATGAATGCATGGATCTGTAGAGAGAGT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0097 a0001c0001t0017g0097	1	292	0.0034	-90	c.-12 others(111): Show c.-126+43263_-126+43352delGATGTGTACATGGATGAATGCATG GATCCATAGAGAGAGTGAATGGATGTGTACATGGATGAATGCATGGATCT GTAGAGAGAGTGAATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCSK6_chr15_101298933_101494707	101360480	ACACACTC others(83): Show ACACACTCCTGCCCGGGGGCCTTAGCATCCCCTGGAACACACCAGACACA CTCCTGCCCGGGGGCCTTAGCATCCCCTGGAACACACCAGG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02280.hp2 HG02717.hp1 others(4): Show HG00558.hp2 HG02280.hp2 HG02717.hp1 HG02818.hp2 HG03209.hp2 NA18522.hp2 NA18967.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0007 a0001c0057 others(2): Show a0001c0001 a0001c0007 a0001c0057 a0002c0008 a0003c0024	a0001c0001t0001 a0001c0001t0009 a0001c0007t0005 others(4): Show a0001c0001t0001 a0001c0001t0009 a0001c0007t0005 a0001c0057t0004 a0002c0008t0001 a0002c0008t0002 a0003c0024t0004	a0001c0001t0001g0206 a0001c0001t0009g0295 a0001c0007t0005g0088 others(4): Show a0001c0001t0001g0206 a0001c0001t0009g0295 a0001c0007t0005g0088 a0001c0057t0004g0222 a0002c0008t0001g0020 a0002c0008t0002g0014 a0003c0024t0004g0315	7	336	0.0208	-90	c.185 others(109): Show c.1858+5626_1858+5715delCCTGGTGTGTTCCAGGGGATGCTAAG GCCCCCGGGCAGGAGTGTGTCTGGTGTGTTCCAGGGGATGCTAAGGCCCC CGGGCAGGAGTGTG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	13/21			chr15	TogoVar
PDCD6_chr5_266646_319974	293284	CTGTCAGA others(83): Show CTGTCAGAGATGGAGAAAGGTATGACAGGAAGAGCAGATCAAGAAGACGG GAACAGCACGAGGCACTGGGAGCTGCAAACGCCTGCGATAA	C C	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	360	0.0028	-90	c.164 others(109): Show c.164-10810_164-10721delTGCGATAATGTCAGAGATGGAGAAAG GTATGACAGGAAGAGCAGATCAAGAAGACGGGAACAGCACGAGGCACTGG GAGCTGCAAACGCC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	293474	TGGAGAAA others(83): Show TGGAGAAAGGTATGACAGGAAGAGCAGATCAAGAAGACGGGAACAGCACG AGGCACTGGGAGCTGCAAACGCCCGCGATACTGTCAGAGAC	T T	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	360	0.0028	-90	c.164 others(109): Show c.164-10239_164-10150delACAGGAAGAGCAGATCAAGAAGACGG GAACAGCACGAGGCACTGGGAGCTGCAAACGCCCGCGATACTGTCAGAGA CGGAGAAAGGTATG	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE1A_chr2_182135041_182432036	182385704	GCTCTCCC others(83): Show GCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC	G G	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0161 a0001c0001t0017g0161	1	264	0.0038	-90	c.53+ others(107): Show c.53+40784_53+40873delGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAG	PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	1/14			chr2	TogoVar
PER2_chr2_238239044_238293610	238269484	GGTGCACT others(83): Show GGTGCACTGCTGCAAACACACCAACCTGCAACTGAACACACTCACGGTGC ACTGCTGCAAACACACCAACCTGCAACTGAACACACTCACA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0011 a0003c0007t0011	a0003c0007t0011g0075 a0003c0007t0011g0075	1	370	0.0027	-90	c.773 others(105): Show c.773-600_773-511delTGTGAGTGTGTTCAGTTGCAGGTTGGTGTG TTTGCAGCAGTGCACCGTGAGTGTGTTCAGTTGCAGGTTGGTGTGTTTGC AGCAGTGCAC	PER2	ENSG00000132326.13	transcript	ENST00000254657.8	protein_coding	6/22			chr2	TogoVar
PERM1_chr1_970198_987093	977926	CACCACCC others(83): Show CACCACCCCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGG AACCGCCTCCCAATCCCCCCAACCCCAGGAACCGCCTCCCA	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0004 a0004	a0004c0025 a0004c0025	a0004c0025t0004 a0004c0025t0004	a0004c0025t0004g0060 a0004c0025t0004g0060	1	408	0.0025	-90	c.214 others(107): Show c.2149+865_2149+954delTGGGAGGCGGTTCCTGGGGTTGGGGGGA TTGGGAGGCGGTTCCCGGGGTTGGTCGGTGGGGGCAGGCGGTTCCCGGGG TTGCGGGGTGGT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PHACTR3_chr20_59599540_59852711	59674779	TCTGTTTC others(83): Show TCTGTTTCCCCCCTTCTCCTCTTCCCACCTTCTCCTGTCCCCCACTTCTC CTGTTTCTGCCTTCTCCTGCCTTCTCCTGTTGCCCCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	250	0.0040	-90	c.119 others(109): Show c.119-68323_119-68234delTTCCCCCCTTCTCCTCTTCCCACCTT CTCCTGTCCCCCACTTCTCCTGTTTCTGCCTTCTCCTGCCTTCTCCTGTT GCCCCTTCTCCTGT	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHLDB1_chr11_118602615_118663028	118646330	CAACTTCA others(83): Show CAACTTCATAGCTCTTAGGAACAGAGAAGGCAGCATAGTAACCATTCTCT AACCAATAATTTCCTGTATGGAAACTTCCAGTTTTTGCATG	C C	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0086 a0001c0001t0012g0086	1	356	0.0028	-90	c.350 others(107): Show c.3507+506_3507+595delAACTTCATAGCTCTTAGGAACAGAGAAG GCAGCATAGTAACCATTCTCTAACCAATAATTTCCTGTATGGAAACTTCC AGTTTTTGCATG	PHLDB1	ENSG00000019144.20	transcript	ENST00000600882.6	protein_coding	17/22			chr11	TogoVar
PID1_chr2_229018973_229276287	229139025	AAGAAAGA others(83): Show AAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	256	0.0039	-90	c.177 others(109): Show c.177+16703_177+16792delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCT CTTTCTTTCTTTCT	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2			chr2	TogoVar
PIEZO1_chr16_88710338_88790220	88741716	CCAGGTGC others(83): Show CCAGGTGCGGGTGGGAGTGTGGATGGGTCTCCAGGTGCGGGTGGGAGTGT GGATGGGTCTCCAGGTGCGGGTGAGAGTGTGGATGGGTCTG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG01106.hp1 others(3): Show HG00140.hp1 HG00323.hp1 HG01106.hp1 HG01261.hp1 HG02559.hp1 HG02683.hp2	a0010 a0067 a0010 a0067	a0010c0011 a0010c0080 a0067c0079 a0010c0011 a0010c0080 a0067c0079	a0010c0011t0004 a0010c0080t0004 a0067c0079t0004 a0010c0011t0004 a0010c0080t0004 a0067c0079t0004	a0010c0011t0004g0162 a0010c0011t0004g0163 a0010c0011t0004g0165 others(3): Show a0010c0011t0004g0162 a0010c0011t0004g0163 a0010c0011t0004g0165 a0010c0011t0004g0267 a0010c0080t0004g0166 a0067c0079t0004g0224	6	282	0.0213	-90	c.327 others(105): Show c.327-190_327-101delCAGACCCATCCACACTCTCACCCGCACCTG GAGACCCATCCACACTCCCACCCGCACCTGGAGACCCATCCACACTCCCA CCCGCACCTG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	4/50			chr16	TogoVar
PIK3C2G_chr12_18256518_18653416	18369434	TGATCATA others(83): Show TGATCATATAACGATCGTATAATTGACATATGATCATATAACGATCGTAT AATTGACATATGATCATATAACGATCGTATAATTGACATAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03490.hp2 NA20129.hp1 HG02559.hp2 HG03490.hp2 NA20129.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0005c0042 a0001c0001 a0005c0006 a0005c0042	a0001c0001t0001 a0005c0006t0002 a0005c0042t0002 a0001c0001t0001 a0005c0006t0002 a0005c0042t0002	a0001c0001t0001g0159 a0005c0006t0002g0107 a0005c0042t0002g0174 a0001c0001t0001g0159 a0005c0006t0002g0107 a0005c0042t0002g0174	3	176	0.0171	-90	c.174 others(109): Show c.1749-1656_1749-1567delCGATCATATAACGATCGTATAATTGA CATATGATCATATAACGATCGTATAATTGACATATGATCATATAACGATC GTATAATTGACATA	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIK3C2G_chr12_18256518_18653416	18369747	GTCGTATA others(83): Show GTCGTATAATTGACATATGATCATATAACGATCGTATAATTGACATATGA TCATATAACGATCGTATAATTGACATATGATCATATAACGA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA18977.hp1 NA19043.hp2 HG02896.hp2 NA18977.hp1 NA19043.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0002 a0006c0022 a0001c0001 a0003c0002 a0006c0022	a0001c0001t0001 a0003c0002t0002 a0006c0022t0002 a0001c0001t0001 a0003c0002t0002 a0006c0022t0002	a0001c0001t0001g0033 a0003c0002t0002g0119 a0006c0022t0002g0078 a0001c0001t0001g0033 a0003c0002t0002g0119 a0006c0022t0002g0078	3	176	0.0171	-90	c.174 others(109): Show c.1749-1195_1749-1106delCGATCGTATAATTGACATATGATCAT ATAACGATCGTATAATTGACATATGATCATATAACGATCGTATAATTGAC ATATGATCATATAA	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr12	TogoVar

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