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
NCAPG2_chr7_158626169_158709804	158668042	C C	CCTTACCC others(196): Show CCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCC TCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTAC TGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTT ACCTACCCTGTGGCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCG CCCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0002 a0009c0015t0002	a0009c0015t0002g0130 a0009c0015t0002g0130	1	378	0.0027	203	c.148 others(222): Show c.1480-3293_1480-3292insAGGGCGGAGGGACCCAGTAGTGGGTA AGGGAGGGCGGAGGGCCACAGGGTAGGTAAGGGAGGGCGGAGGGACCCAG TAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGC GGGCGGAGGGACCCAGTAGTGGGTAAG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158668245	C C	CTTACCCA others(196): Show CTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCT CCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTA CTGGGTCCCTCCGCCCTCCTTACCTACCCTGTGGCCCTCCACCCTCTTAC CCACTACTGGGTCCCTCCGCCTTCCTTACCGACCCTGGGTCCCTCCGCCC CCCG	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA21309.hp1 HG02886.hp1 NA21309.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0332 a0003c0006t0001g0334 a0003c0006t0001g0332 a0003c0006t0001g0334	2	378	0.0053	203	c.147 others(222): Show c.1479+3268_1479+3269insCGGGGGGCGGAGGGACCCAGGGTCGG TAAGGAAGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCACAG GGTAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGG CGGGCGGAGGGACCCAGTAGTGGGTAA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCK2_chr2_105739912_105899272	105840978	G G	GGACAGAC others(196): Show GGACAGACCAGTTGTAACTTTAGGTCAGTAATTGAGGTCTACCTTCTAAT TCTCCACACTGATAGTGTGGATTACAAGCTTATCTTCCCAGGTGCAGAAC AAGTCCAGACTCATTTCTTCCACCTACCCAGAGATGACTGCATAATTGTC TCTTCCGACATTCACTTTATCTGATGTAAAATGTAGATTTACTGGGCACT AACC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02970.hp2 HG03041.hp1 others(1): Show HG02895.hp1 HG02970.hp2 HG03041.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 others(1): Show a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0283	4	334	0.0120	203	c.-16 others(222): Show c.-16-14069_-16-13867dupGACAGACCAGTTGTAACTTTAGGTCA GTAATTGAGGTCTACCTTCTAATTCTCCACACTGATAGTGTGGATTACAA GCTTATCTTCCCAGGTGCAGAACAAGTCCAGACTCATTTCTTCCACCTAC CCAGAGATGACTGCATAATTGTCTCTTCCGACATTCACTTTATCTGATGT AAAATGTAGATTTACTGGGCACTAACC	NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCS1_chr9_130167404_130242303	130221958	A A	AATATAAA others(196): Show AATATAAATTATGTATATATAAATATATATACATAATATAAATTATGTAT ATATAAATATATATACATAATATAAATTATGTATATATAAATATATATAC ATAATATAAATTATGTATATATAAATATATATACATAATATAAATTATGT ATATATAAATATATATACATAATATAAATTATGTATATATAAATATATAT ACAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02698.hp2 HG03710.hp2 HG01361.hp1 HG02698.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0073 a0001c0002t0185 a0001c0002t0009 a0001c0002t0073 a0001c0002t0185	a0001c0002t0009g0092 a0001c0002t0073g0028 a0001c0002t0185g0144 a0001c0002t0009g0092 a0001c0002t0073g0028 a0001c0002t0185g0144	3	348	0.0086	203	c.308 others(218): Show c.308-691_308-690insTATAAATTATGTATATATAAATATATATAC ATAATATAAATTATGTATATATAAATATATATACATAATATAAATTATGT ATATATAAATATATATACATAATATAAATTATGTATATATAAATATATAT ACATAATATAAATTATGTATATATAAATATATATACATAATATAAATTAT GTATATATAAATATATATACATA	NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NCS1_chr9_130167404_130242303	130221958	A A	AATATAAA others(196): Show AATATAAATTATGTATATATAAATATATATACATAATATAAATTATGTAT ATATAAATATATATACATAATATAAATTATGTATATATAAATATATATAC ATAATATAAATTATGTATATATAAATATATATACATAATATAAATTATGT ATATATAAATATATATACATAATATAAATTATGTATCTATAAATATATAT ACAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA18959.hp1 HG01934.hp1 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0180 a0001c0002t0011 a0001c0002t0180	a0001c0002t0011g0128 a0001c0002t0180g0257 a0001c0002t0011g0128 a0001c0002t0180g0257	2	348	0.0058	203	c.308 others(218): Show c.308-691_308-690insTATAAATTATGTATATATAAATATATATAC ATAATATAAATTATGTATATATAAATATATATACATAATATAAATTATGT ATATATAAATATATATACATAATATAAATTATGTATATATAAATATATAT ACATAATATAAATTATGTATATATAAATATATATACATAATATAAATTAT GTATCTATAAATATATATACATA	NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NEU4_chr2_241804193_241822413	241805556	A A	ACCCTCCC others(196): Show ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCCCTCCTCAACCC AGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACC TCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA CCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0032 a0002c0003t0002g0032	2	319	0.0063	203	c.-37 others(214): Show c.-3722_-3721insCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCC CTCCCTCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCC CTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GACCTCTGCAGGCCACCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3636		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805963	T T	TCTGCAGG others(196): Show TCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGAGACCTCCGCAGGCCAC TCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCC CCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGA GACCTCCGCAGGCCACTCTCCCTCCCCCTCAGCCCAGAGACCTCTGCAGG CCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0025 a0001c0006t0001g0025	1	319	0.0031	203	c.-33 others(214): Show c.-3315_-3314insCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGAG ACCTCCGCAGGCCACTCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCTTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCT CCCCCTCAGCCCAGAGACCTCCGCAGGCCACTCTCCCTCCCCCTCAGCCC AGAGACCTCTGCAGGCCAC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3229		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806758	A A	ACCCTCCC others(196): Show ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCC CCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA CCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0118 a0001c0004t0001g0118	1	319	0.0031	203	c.-25 others(214): Show c.-2520_-2519insCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GACCTCTGCAGGCCACCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2434		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807214	A A	ACCCTCCC others(196): Show ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCC CCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0019 a0002c0003t0002g0019	2	319	0.0063	203	c.-20 others(214): Show c.-2064_-2063insCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCTCCCTCAGCCCAGG GACCTCCGCAGGCCACCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1978		chr2	TogoVar
NEU4_chr2_241804193_241822413	241812487	C C	CGAGGACA others(196): Show CGAGGACACGGAGGCTCTGTGGAACCCAGGGCCTGGCCACACTAACTGGG GCTGGCCTCCGAGACAGGGGAGGTCCTGAGGACACGGAGGCTCTGTGGAA CCCAGGGCCTGGCCACATGGAGGACACGGAGGCTCTGTGGAACCCAGGGC CTGGCCACACTGAGGACACGGAGGCTCTGTGGAACCCAGGGAACTGGTCA CACT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp2 HG02572.hp1 others(1): Show HG01243.hp1 HG02109.hp2 HG02572.hp1 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0003 a0001c0004t0001 a0002c0003t0002 a0001c0001t0003 a0001c0004t0001 a0002c0003t0002	a0001c0001t0003g0097 a0001c0004t0001g0157 a0002c0003t0002g0044 a0001c0001t0003g0097 a0001c0004t0001g0157 a0002c0003t0002g0044	4	319	0.0125	203	c.-3- others(218): Show c.-3-1965_-3-1964insCCTGGCCACACTAACTGGGGCTGGCCTCCG AGACAGGGGAGGTCCTGAGGACACGGAGGCTCTGTGGAACCCAGGGCCTG GCCACATGGAGGACACGGAGGCTCTGTGGAACCCAGGGCCTGGCCACACT GAGGACACGGAGGCTCTGTGGAACCCAGGGAACTGGTCACACTGAGGACA CGGAGGCTCTGTGGAACCCAGGG	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
NHSL1_chr6_138417043_138504494	138455457	G G	GCTGCAAG others(196): Show GCTGCAAGGAGCCCCGCCTTCACATGCTCCCTGCAAGAAGCCCCGCCTTC ACATGCTCCCTGCAAGAAGCCCCGCCTTCACATGCTCCCTGCAAGGAGCC CCGCCTTCACATGCTCCCTGCAAGGAGCCCCGCCTTCGCATGCTCCCTGC AAGGAGCCCCGCCTTCGCATGCTCCCTGCAAGGAGCCCCGCCTTCGCATG CTCC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0160 a0001c0002t0001g0160	1	332	0.0030	203	c.340 others(220): Show c.340-8265_340-8264insGGAGCATGCGAAGGCGGGGCTCCTTGCA GGGAGCATGCGAAGGCGGGGCTCCTTGCAGGGAGCATGCGAAGGCGGGGC TCCTTGCAGGGAGCATGTGAAGGCGGGGCTCCTTGCAGGGAGCATGTGAA GGCGGGGCTTCTTGCAGGGAGCATGTGAAGGCGGGGCTTCTTGCAGGGAG CATGTGAAGGCGGGGCTCCTTGCAG	NHSL1	ENSG00000135540.12	transcript	ENST00000343505.10	protein_coding	3/7			chr6	TogoVar
NLRP13_chr19_55890945_55937336	55931716	A A	AGAAAGAC others(196): Show AGAAAGACAGAAAGAAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAA AGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAG AAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAA AGAC	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0107 a0001c0009t0001g0107	1	440	0.0023	203	c.319 others(218): Show c.319+276_319+277insGTCTTTCTTTCTGTCTTTCTTTCTGTCTTT CTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCT TTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTT CTGTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTGTCT TTCTTTCTTTCTTTCTGTCTTTC	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NOTCH1_chr9_136489433_136551048	136535597	A A	AGGGGCAA others(196): Show AGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGATCACTCAGGATCCCTC CCGGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCT CCCAGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCT CCCGGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCC TCCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0103 a0001c0002t0005g0103	1	324	0.0031	203	c.140 others(220): Show c.140+8426_140+8427insGGGAGGGATCCTGAGTGCTCCCCTCTCC ACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCGA CCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCTCTC CACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGATCCCCCCT CCACCCACCCTGCACCCATTGCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535755	C C	CGGGGGCA others(196): Show CGGGGGCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCC CAGGGGCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCC CAGGGGCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCC CAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCT CCCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0008 a0008	a0008c0030 a0008c0030	a0008c0030t0014 a0008c0030t0014	a0008c0030t0014g0172 a0008c0030t0014g0172	1	324	0.0031	203	c.140 others(220): Show c.140+8268_140+8269insTGGGAGGGATCCTGAGTGCTCCCCCCTC CACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCC CACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCC CACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCC CACCCACCCTGCACCCATTGCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NSD3_chr8_38264704_38387271	38340182	T T	TAAAAAGA others(196): Show TAAAAAGAGGGTATAGCCAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCT GTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAG GAAGTGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCT GGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0225 a0001c0001t0025g0225	1	226	0.0044	203	c.676 others(220): Show c.676-1576_676-1575insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCACTTCCTGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCT AATTTTTTGGCTATACCCTCTTTTT	NSD3	ENSG00000147548.17	transcript	ENST00000317025.13	protein_coding	2/23			chr8	TogoVar
NTM_chr11_131365615_132341822	131789429	G G	GAAGAAGA others(196): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAGAAGAAGAAG AAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	1	86	0.0116	203	c.83- others(222): Show c.83-122135_83-122134insAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAAGAAGAAGAAGAAAGAAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8			chr11	TogoVar
ODF3_chr11_191761_205258	196258	A A	AGGGGGAC others(196): Show AGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTG GTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTT GGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACC TGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGAC ATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01070.hp2 HG01496.hp2 others(6): Show HG00738.hp1 HG01070.hp2 HG01496.hp2 HG01934.hp1 HG01993.hp1 HG02109.hp2 HG02273.hp1 HG02698.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0004 a0001c0001t0002g0007	9	388	0.0232	203	c.-79 others(212): Show c.-797_-796insGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACAT GGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGACA TGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCT TGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGAC CTGGTGAGGGGACATGG	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		502		chr11	TogoVar
ODF3_chr11_191761_205258	196267	T T	TTGGTGAG others(196): Show TTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGA CCTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGG ACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGG GACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGG ACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	388	0.0026	203	c.-78 others(212): Show c.-788_-787insTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGAC CTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGA CCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGG GACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGG GGACATGGGGGGGACCT	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		493		chr11	TogoVar
OPRL1_chr20_64075082_64105633	64094119	T T	TGGGGGGC others(196): Show TGGGGGGCAGTGTGGGGGTCAGTGTGGGGGCAGTGTGGGGGGCAGTGTGG GGGGCAGTGTGGGGGGCAGTGTGGGGGCAGTGTGGGGGGCAGTGTGGGGG GCAGTGTGGGGGCAGTGTGTGGGTCAGTGTGCGGGCAGTGTGTGGGGGGC AGTGTGGGGGGCAGTGTGGGGGCAGTGTGTGGGTCAGTGTGCGGGCAGTG TGTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	66	0.0152	203	c.233 others(220): Show c.233+1171_233+1172insGCAGTGTGGGGGTCAGTGTGGGGGCAGT GTGGGGGGCAGTGTGGGGGGCAGTGTGGGGGGCAGTGTGGGGGCAGTGTG GGGGGCAGTGTGGGGGGCAGTGTGGGGGCAGTGTGTGGGTCAGTGTGCGG GCAGTGTGTGGGGGGCAGTGTGGGGGGCAGTGTGGGGGCAGTGTGTGGGT CAGTGTGCGGGCAGTGTGTGGGGGG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
OR11H4_chr14_20234286_20249349	20237659	A A	ATAGTATA others(196): Show ATAGTATATAGTATATATAGTATATATAGGATATATAGGATATATATAAT ATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTAT ATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTAT ATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATACT CTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 NA18970.hp1 NA18972.hp1 others(3): Show HG00738.hp1 NA18970.hp1 NA18972.hp1 NA18984.hp1 NA18994.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0207 a0001c0001t0001g0257 a0001c0001t0002g0227 others(2): Show a0001c0001t0001g0207 a0001c0001t0001g0257 a0001c0001t0002g0227 a0001c0003t0001g0002 a0001c0003t0001g0224	6	439	0.0137	203	c.-16 others(214): Show c.-1684_-1683insTAGTATATAGTATATATAGTATATATAGGATATA TAGGATATATATAATATAGTATATATAGTATATATACTCTATAGTATATA TAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATA TATAGTATATATACTCTAT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1626		chr14	TogoVar
OSBPL8_chr12_76346797_76564771	76411500	C C	CAGTGCCT others(196): Show CAGTGCCTAAAGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0073 a0001c0001t0024g0073	1	238	0.0042	203	c.218 others(218): Show c.218-867_218-866insCAAAAAATTAGCCGGGCGTAGTGGCGGGCG CCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACC CGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCC TGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAATACTTTAGGCACT	OSBPL8	ENSG00000091039.17	transcript	ENST00000261183.8	protein_coding	4/23			chr12	TogoVar
OTOF_chr2_26452203_26483124	26476536	C C	CCCTTCCC others(196): Show CCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCACCCCTTCCCCCACCTC CTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCT TCCCCACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTC CCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCC CACG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	330	0.0030	203	c.436 others(218): Show c.436-220_436-219insCGTGGGGGAAGGGGTGGGGAAGGAGGTGGG GGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGG AAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAG GAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGG GTGGGGAAGGAGGTGGGGGAAGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
OTOF_chr2_26452203_26563756	26476536	C C	CCCTTCCC others(196): Show CCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCACCCCTTCCCCCACCTC CTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCT TCCCCACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTC CCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCC CACG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0042 a0002c0042	a0002c0042t0001 a0002c0042t0001	a0002c0042t0001g0144 a0002c0042t0001g0144	1	284	0.0035	203	c.267 others(220): Show c.2677-220_2677-219insCGTGGGGGAAGGGGTGGGGAAGGAGGTG GGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGG GGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGA AGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAG GGGTGGGGAAGGAGGTGGGGGAAGG	OTOF	ENSG00000115155.19	transcript	ENST00000272371.7	protein_coding	22/46			chr2	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCCCC others(196): Show TCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCTC CTTCCTCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCC CCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCC CTCC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0163 a0003c0003t0003g0163	1	308	0.0033	203	c.226 others(222): Show c.2262+7531_2262+7532insCTCCCCTCCCCCTCCTCCCCTTCCTC CCCTCCCCCTCCTCTCCTTCCTCCCCTCCCCCCCTCCTCCCCCCTCCTCC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCC CCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCT CCTCCCCTCCCCTCCCCTCCCCTCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PASD1_chrX_151558675_151681739	151562915	G G	GCGGGGGG others(196): Show GCGGGGGGTCGGTGGTCCGGGCGGGGGCGGGGGGGCAGCTGGGGCGGGGG GCGGGGGGGGGCGGGGGGGCGGGGGGGGGCGGGGGGGGCGGGGGGGCGGG GGGGCGGGGGGCGGGGGGGCGGGGGGGGGGCGGGGGGGCGGGGGGGGCGG GGGGGGCGGGGGGGCGGGGGGGCGGGGGGCGGGGGGGCGGGGGGGGCGGG GGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0156 a0001c0003t0003g0156	1	221	0.0045	203	c.-95 others(212): Show c.-952_-951insCGGGGGGTCGGTGGTCCGGGCGGGGGCGGGGGGGCA GCTGGGGCGGGGGGCGGGGGGGGGCGGGGGGGCGGGGGGGGGCGGGGGGG GCGGGGGGGCGGGGGGGCGGGGGGCGGGGGGGCGGGGGGGGGGCGGGGGG GCGGGGGGGGCGGGGGGGGCGGGGGGGCGGGGGGGCGGGGGGCGGGGGGG CGGGGGGGGCGGGGGGC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		759		chrX	TogoVar
PCDHGA1_chr5_141325514_141517975	141407491	A A	ATTTCTGT others(196): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG CATT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01192.hp2 HG00738.hp2 HG01192.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0237 a0003c0004t0001g0243 a0003c0004t0001g0237 a0003c0004t0001g0243	2	268	0.0075	203	c.242 others(224): Show c.2421+74400_2421+74401insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA1	ENSG00000204956.6	transcript	ENST00000517417.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA2_chr5_141333760_141517975	141407491	A A	ATTTCTGT others(196): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG CATT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01192.hp1 HG00738.hp2 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0122 a0001c0001t0001g0123	2	272	0.0074	203	c.242 others(224): Show c.2424+66110_2424+66111insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA2	ENSG00000081853.15	transcript	ENST00000394576.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA3_chr5_141338829_141517975	141407491	A A	ATTTCTGT others(196): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG CATT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01192.hp1 HG00738.hp2 HG01192.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0041 a0003c0003t0001g0042 a0003c0003t0001g0041 a0003c0003t0001g0042	2	270	0.0074	203	c.242 others(224): Show c.2424+61048_2424+61049insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA3	ENSG00000254245.3	transcript	ENST00000253812.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA4_chr5_141350021_141517975	141407491	A A	ATTTCTGT others(196): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG CATT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01192.hp1 HG00738.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0243 a0002c0002t0001g0244	2	274	0.0073	203	c.251 others(224): Show c.2514+49884_2514+49885insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA4	ENSG00000262576.3	transcript	ENST00000571252.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA5_chr5_141359162_141517975	141407491	A A	ATTTCTGT others(196): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG CATT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01192.hp2 HG00738.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0122 a0001c0002t0001g0123	2	292	0.0069	203	c.242 others(224): Show c.2421+40754_2421+40755insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA5	ENSG00000253485.3	transcript	ENST00000518069.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA6_chr5_141368891_141517975	141407491	A A	ATTTCTGT others(196): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG CATT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01192.hp1 HG00738.hp2 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0273 a0001c0002t0001g0276 a0001c0002t0001g0273 a0001c0002t0001g0276	2	292	0.0069	203	c.242 others(224): Show c.2424+30998_2424+30999insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA6	ENSG00000253731.3	transcript	ENST00000517434.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA7_chr5_141377742_141517975	141407491	A A	ATTTCTGT others(196): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG CATT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01192.hp1 HG00738.hp2 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0169 a0001c0001t0001g0170	2	292	0.0069	203	c.242 others(224): Show c.2424+22182_2424+22183insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA7	ENSG00000253537.3	transcript	ENST00000518325.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA8_chr5_141387633_141517975	141407491	A A	ATTTCTGT others(196): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG CATT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01192.hp2 HG00738.hp1 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0012 a0001c0001t0001g0013	2	302	0.0066	203	c.242 others(224): Show c.2424+12268_2424+12269insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA8	ENSG00000253767.3	transcript	ENST00000398604.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA9_chr5_141397778_141517975	141407491	A A	ATTTCTGT others(196): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG CATT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01192.hp1 HG00738.hp1 HG01192.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0275 a0001c0005t0001g0276 a0001c0005t0001g0275 a0001c0005t0001g0276	2	302	0.0066	203	c.242 others(222): Show c.2424+2129_2424+2130insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA9	ENSG00000261934.3	transcript	ENST00000573521.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB1_chr5_141345099_141517975	141407491	A A	ATTTCTGT others(196): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG CATT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01192.hp2 HG00738.hp2 HG01192.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0026 a0002c0004t0001g0027 a0002c0004t0001g0026 a0002c0004t0001g0027	2	278	0.0072	203	c.240 others(224): Show c.2409+54836_2409+54837insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB1	ENSG00000254221.3	transcript	ENST00000523390.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB2_chr5_141354994_141517975	141407491	A A	ATTTCTGT others(196): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG CATT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01192.hp1 HG00738.hp2 HG01192.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0272 a0003c0003t0001g0273 a0003c0003t0001g0272 a0003c0003t0001g0273	2	288	0.0069	203	c.242 others(224): Show c.2421+44949_2421+44950insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB2	ENSG00000253910.3	transcript	ENST00000522605.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB3_chr5_141365242_141517975	141407491	A A	ATTTCTGT others(196): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG CATT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01192.hp2 HG00738.hp2 HG01192.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0279 a0003c0003t0001g0282 a0003c0003t0001g0279 a0003c0003t0001g0282	2	296	0.0068	203	c.241 others(224): Show c.2415+34696_2415+34697insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB3	ENSG00000262209.3	transcript	ENST00000576222.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB4_chr5_141382698_141517975	141407491	A A	ATTTCTGT others(196): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG CATT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	294	0.0034	203	c.239 others(224): Show c.2397+17224_2397+17225insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB4	ENSG00000253953.3	transcript	ENST00000519479.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB5_chr5_141392947_141517975	141407491	A A	ATTTCTGT others(196): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG CATT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01192.hp1 HG00738.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0011 a0001c0001t0002g0012	2	300	0.0067	203	c.239 others(222): Show c.2397+6981_2397+6982insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB5	ENSG00000276547.2	transcript	ENST00000617380.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB6_chr5_141403021_141517975	141407491	A A	ATTTCTGT others(196): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG CATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01192.hp2 HG00738.hp2 HG01192.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0137 a0002c0003t0001g0180 a0002c0003t0001g0137 a0002c0003t0001g0180	2	302	0.0066	203	c.-71 others(212): Show c.-712_-711insTTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGCATT	PCDHGB6	ENSG00000253305.3	transcript	ENST00000520790.2	protein_coding		529		chr5	TogoVar
PCSK6_chr15_101298933_101494707	101311661	C C	CACCCTCA others(196): Show CACCCTCACAGCTCACCCCATCATCACACCCTCACAGCCCACCCCATCAT CACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGT CACCCCTCACAGCCCACCCCATCATCACCCCTCACAGCTCACCCCATCGT CACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCAT CACA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02004.hp1 HG04184.hp2 HG00733.hp1 HG02004.hp1 HG04184.hp2	a0001 a0001	a0001c0005 a0001c0009 a0001c0012 a0001c0005 a0001c0009 a0001c0012	a0001c0005t0001 a0001c0009t0001 a0001c0012t0001 a0001c0005t0001 a0001c0009t0001 a0001c0012t0001	a0001c0005t0001g0273 a0001c0009t0001g0208 a0001c0012t0001g0102 a0001c0005t0001g0273 a0001c0009t0001g0208 a0001c0012t0001g0102	3	336	0.0089	203	c.269 others(222): Show c.2699+1714_2699+1715insTGTGATGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGAGCTGTGAGGG GTGATGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGATGATGGGGTGGGCTGTGAGGG TGTGATGATGGGGTGAGCTGTGAGGGT	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101312114	C C	CCCCTCAC others(196): Show CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CACCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATCGT CACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGT CACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGT CACA	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA19005.hp1 NA18974.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0001 a0001c0011t0001 a0001c0002t0001 a0001c0011t0001	a0001c0002t0001g0215 a0001c0011t0001g0214 a0001c0002t0001g0215 a0001c0011t0001g0214	2	336	0.0060	203	c.269 others(222): Show c.2699+1261_2699+1262insTGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG TGTGACGATGGGGTGGGCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAG GGGTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(196): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCA CTTCCCCTCCCTCTCCCCTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCC CCCCTCCCCCTCCCCCTCCCCTCCCCCATCCCCTCCCCACTCCCCCTCCC CCTCCCCACTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0289 a0001c0002t0001g0289	1	336	0.0030	203	c.-37 others(214): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGGGGGAG GGGAGGGGGAGGGGGAGGGGGGAGGGGATGAGGGAGGGGGAGGGGGAGGG CAGGGGAGAGGGAGGGGAAGTGGGGAGGGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PDIA2_chr16_278164_292215	285909	C C	CCCAACCC others(196): Show CCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCC CAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCG GTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTC TCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCC AACA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0165 a0007c0009t0001g0165	1	436	0.0023	203	c.111 others(220): Show c.1119+214_1119+215insAACCCCAACCCCAACCCCAACCCCAACC CCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAA CCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCC AACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGG TTCTCCCAACCCCAACACCAACCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PHACTR3_chr20_59599540_59852711	59674593	G G	GTCCCCCC others(196): Show GTCCCCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTCCCCCCTTCTCCTGT TCCTTCCCCTTCTCCTGTCCCCCCTTCTCCTGTTCCTTCCCCTTCTCCTG TCCTCTCTTCTCCTGTTCCCCCTTGTTCTCGTTCCCCTTCTCCTGTTCCC CCTTCTCCTGTCCCCGCTTCTTCTGTCTCCCCTTCTGTTCCCTCCTTCTC CTAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02723.hp2 HG02809.hp1 HG01884.hp2 HG02723.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0091 a0001c0001t0006g0022 a0001c0001t0006g0067 a0001c0001t0003g0091 a0001c0001t0006g0022 a0001c0001t0006g0067	3	250	0.0120	203	c.119 others(222): Show c.119-68509_119-68508insCCTTCTCCTGTTCCTTCCCCTTCTCC TGTCCCCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTCCCCCCTTCTCCTG TTCCTTCCCCTTCTCCTGTCCTCTCTTCTCCTGTTCCCCCTTGTTCTCGT TCCCCTTCTCCTGTTCCCCCTTCTCCTGTCCCCGCTTCTTCTGTCTCCCC TTCTGTTCCCTCCTTCTCCTATTCCCC	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PKD2L1_chr10_100283149_100335228	100314979	G G	GGGAAGGG others(196): Show GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	306	0.0033	203	c.349 others(222): Show c.349+14231_349+14232insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKP3_chr11_389209_409908	398341	C C	CTGTCACC others(196): Show CTGTCACCTCCCTACCCCCGCACACACCTGCATCACCTCCGTACCCCCGC ACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCT ACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTC ACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACA CCTG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	216	0.0046	203	c.106 others(220): Show c.1069-651_1069-650insTGTCACCTCCCTACCCCCGCACACACCT GCATCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGC ACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCT ACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTC ACCTCCCTACCCCCGCACACACCTG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12			chr11	TogoVar
PKP3_chr11_389209_409908	398410	G G	GTACCCCC others(196): Show GTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCTG TCACCTCCCTACCCCCGCACACACCTGCATCACCTCCGTACCCCCGCACA CACCTGTGTCACCTCCATACCCCCGCACACACCTGCGTCACCTCCCTACC CCCGCACACACCTGTGTCACCTCCCTACCCCCGCACACACCTGCGTCACC TCCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0018 a0001c0010t0003g0018	1	216	0.0046	203	c.106 others(220): Show c.1069-554_1069-553insGTACCCCCGCACACACCTCTGTCACCTC CCTACCCCCGCACACACCTGCATCACCTCCGTACCCCCGCACACACCTGT GTCACCTCCATACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTGTGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTAC CCCCGCACACACCTGCGTCACCTCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398642	C C	CTACCCCC others(196): Show CTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCG TCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACA CACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACC CCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACC TCCG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0172	1	216	0.0046	203	c.106 others(220): Show c.1069-333_1069-332insCCGTCACCTCCGTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCG CACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCG TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCGTACCCCCGCACACACCT	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398691	G G	GTCACCTC others(196): Show GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTAC CCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCAC CTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACC TGCA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01981.hp2 HG02004.hp1 HG01975.hp1 HG01981.hp2 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036	3	216	0.0139	203	c.106 others(220): Show c.1069-293_1069-292insCTACCCCCGCACACACCTGCGTCACCTC CCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGC GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTCCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTAC CCCCGCACACACCTGCATCACCTCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar

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Search Results (Total: 10000 hits)