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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
POLA1_chrX_24688918_25001986	24921892	T T	TTGTGTGT others(31): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03195.hp2 NA20300.hp2 HG02615.hp2 HG03195.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0018	3	197	0.0152	38	c.416 others(57): Show c.4165-8545_4165-8544insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTG	POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	35/36		INFO_REALIGN_3_PRIME	chrX	TogoVar
POLD3_chr11_74587582_74648076	74632877	T T	TACACACA others(31): Show TACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0270 a0001c0002t0002g0270	1	400	0.0025	38	c.100 others(57): Show c.1007-1686_1007-1649dupCACACACACACACACACACACACACA CACACACACACA	POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
POLDIP2_chr17_28341633_28362527	28353520	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02523.hp1 HG00099.hp2 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0170 a0001c0002t0001g0052 a0001c0001t0002g0170 a0001c0002t0001g0052	2	340	0.0059	38	c.438 others(53): Show c.438+174_438+175insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	POLDIP2	ENSG00000004142.12	transcript	ENST00000540200.6	protein_coding	4/10			chr17	TogoVar
POLG_chr15_89311320_89339824	89325041	T T	TGAGAGTG others(31): Show TGAGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0015 a0015	a0015c0026 a0015c0026	a0015c0026t0001 a0015c0026t0001	a0015c0026t0001g0061 a0015c0026t0001g0061	1	398	0.0025	38	c.194 others(55): Show c.1949+408_1949+409insTCTCACTCACTCACTCACTCACTCACTC TCTCACTCTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
POLG_chr15_89311320_89339824	89325077	T T	TGAGAGAG others(31): Show TGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0242 a0002c0002t0001g0242	1	398	0.0025	38	c.194 others(55): Show c.1949+372_1949+373insTCTCTCACTCACTCACTCTCTCACTCAC TCACTCTCTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
POLG_chr15_89311320_89339824	89325243	T T	TGAGTGAG others(31): Show TGAGTGAGTGAGTGAGAGTGAGTGAGTGAGTGAGTGAGA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	398	0.0025	38	c.194 others(55): Show c.1949+206_1949+207insTCTCACTCACTCACTCACTCACTCTCAC TCACTCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
POLR2L_chr11_834721_847529	843713	C C	CTCCTTGG others(31): Show CTCCTTGGAGGTGCGAGGGCAGTGAGAGGCAAAGAAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(267): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18987.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0002t0003	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0023 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0048 a0001c0001t0002g0002 a0001c0001t0002g0024 a0001c0001t0002g0032 a0001c0001t0004g0003 a0001c0001t0004g0007 a0001c0001t0004g0011 a0001c0001t0004g0038 a0001c0001t0006g0008 a0001c0001t0008g0017 a0001c0001t0009g0018 a0001c0001t0011g0041 a0001c0001t0013g0040 a0001c0001t0014g0039 a0001c0002t0003g0004 a0001c0002t0003g0005 a0001c0002t0003g0013	270	436	0.6193	38	c.-12 others(49): Show c.-1206_-1205insACCTTCTTTGCCTCTCACTGCCCTCGCACCTCCA AGGA	POLR2L	ENSG00000177700.6	transcript	ENST00000322028.5	protein_coding		1185		chr11	TogoVar
POLR3E_chr16_22292409_22340096	22303639	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	358	0.0028	38	c.36+ others(51): Show c.36+653_36+654insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	POLR3E	ENSG00000058600.16	transcript	ENST00000299853.10	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
POLR3F_chr20_18462390_18489646	18486137	A A	AATATAAA others(31): Show AATATAAATATATATATAAATATATATAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0012 a0001c0012t0012	a0001c0012t0012g0056 a0001c0012t0012g0056	1	452	0.0022	38	c.25 others(49): Show c.2579_*2580insATATAAATATATATATAAATATATATAAATATAT ATAT	POLR3F	ENSG00000132664.13	transcript	ENST00000377603.5	protein_coding		1492		chr20	TogoVar
POLR3G_chr5_90469864_90519557	90514755	A A	AACACACA others(31): Show AACACACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	366	0.0027	38	c.26 others(49): Show c.2616_*2617insACACACACACACACACACACACACACACACACAC ACAC	POLR3G	ENSG00000113356.13	transcript	ENST00000651687.1	protein_coding		199		chr5	TogoVar
POLRMT_chr19_612221_638537	626696	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0008 a0002c0013t0008	a0002c0013t0008g0342 a0002c0013t0008g0342	1	422	0.0024	38	c.823 others(55): Show c.823-1443_823-1442insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding	3/20			chr19	TogoVar
POLRMT_chr19_612221_638537	626898	C C	CACACACA others(31): Show CACACACACACACACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0003 a0006c0008t0003	a0006c0008t0003g0333 a0006c0008t0003g0333	1	422	0.0024	38	c.823 others(55): Show c.823-1645_823-1644insATGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding	3/20			chr19	TogoVar
POTEG_chr14_19397486_19439341	19434973	T T	TGCACGTG others(31): Show TGCACGTGCAAGCCATTACAAGCCAGCCAAGCCACTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0005 a0006c0005t0005	a0006c0005t0005g0021 a0006c0005t0005g0021	1	111	0.0090	38	c.-68 others(47): Show c.-685_-684insGGCAGTGGCTTGGCTGGCTTGTAATGGCTTGCACGT GC	POTEG	ENSG00000187537.13	transcript	ENST00000547848.5	protein_coding		633		chr14	TogoVar
POTEG_chr14_19397486_19439341	19434973	T T	TGCACGTG others(31): Show TGCACGTGCAAGCCGTTACAAGCCAGCCAAGCCACTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01192.hp2 HG02083.hp1 others(1): Show HG00323.hp1 HG01192.hp2 HG02083.hp1 HG03471.hp1	a0004 a0006 a0027 a0004 a0006 a0027	a0004c0004 a0004c0034 a0006c0005 others(1): Show a0004c0004 a0004c0034 a0006c0005 a0027c0017	a0004c0004t0007 a0004c0034t0012 a0006c0005t0005 others(1): Show a0004c0004t0007 a0004c0034t0012 a0006c0005t0005 a0027c0017t0011	a0004c0004t0007g0010 a0004c0034t0012g0014 a0006c0005t0005g0022 others(1): Show a0004c0004t0007g0010 a0004c0034t0012g0014 a0006c0005t0005g0022 a0027c0017t0011g0003	4	111	0.0360	38	c.-68 others(47): Show c.-685_-684insGGCAGTGGCTTGGCTGGCTTGTAACGGCTTGCACGT GC	POTEG	ENSG00000187537.13	transcript	ENST00000547848.5	protein_coding		633		chr14	TogoVar
POTEG_chr14_19397486_19439341	19434986	T T	TGCACGTG others(31): Show TGCACGTGCAAGCCGTTACAAGCCAGCCAAGCCACTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0029 a0029	a0029c0033 a0029c0033	a0029c0033t0007 a0029c0033t0007	a0029c0033t0007g0005 a0029c0033t0007g0005	1	111	0.0090	38	c.-69 others(47): Show c.-698_-697insGGCAGTGGCTTGGCTGGCTTGTAACGGCTTGCACGT GC	POTEG	ENSG00000187537.13	transcript	ENST00000547848.5	protein_coding		646		chr14	TogoVar
POTEM_chr14_18962434_19008752	18966743	C C	CGCACGCC others(31): Show CGCACGCCGCACGCGCACGCCGCACGCGCACGCCGCACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	67	0.0149	38	c.-74 others(47): Show c.-743_-742insGCACGCCGCACGCGCACGCCGCACGCGCACGCCGCA CG	POTEM	ENSG00000222036.8	transcript	ENST00000547889.6	protein_coding		690		chr14	TogoVar
POTEM_chr14_18962434_19008752	18966796	C C	CGCGGCAG others(31): Show CGCGGCAGTGGCTTGGCTGGCTTGTAACGGCTTGCACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG03098.hp1 HG03834.hp2 HG01243.hp2 HG03098.hp1 HG03834.hp2	a0008 a0010 a0011 a0008 a0010 a0011	a0008c0010 a0010c0014 a0011c0008 a0008c0010 a0010c0014 a0011c0008	a0008c0010t0015 a0010c0014t0013 a0011c0008t0012 a0008c0010t0015 a0010c0014t0013 a0011c0008t0012	a0008c0010t0015g0004 a0010c0014t0013g0066 a0011c0008t0012g0065 a0008c0010t0015g0004 a0010c0014t0013g0066 a0011c0008t0012g0065	3	67	0.0448	38	c.-69 others(47): Show c.-690_-689insGCGGCAGTGGCTTGGCTGGCTTGTAACGGCTTGCAC GT	POTEM	ENSG00000222036.8	transcript	ENST00000547889.6	protein_coding		637		chr14	TogoVar
POTEM_chr14_18962434_19008752	18966809	C C	CGCGGCAG others(31): Show CGCGGCAGTGGCTTGGCTGGCTTGTAACGGCTTGCACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG03654.hp2 HG02083.hp2 HG03654.hp2	a0004 a0015 a0004 a0015	a0004c0004 a0015c0016 a0004c0004 a0015c0016	a0004c0004t0034 a0015c0016t0032 a0004c0004t0034 a0015c0016t0032	a0004c0004t0034g0008 a0015c0016t0032g0038 a0004c0004t0034g0008 a0015c0016t0032g0038	2	67	0.0299	38	c.-67 others(47): Show c.-677_-676insGCGGCAGTGGCTTGGCTGGCTTGTAACGGCTTGCAC GT	POTEM	ENSG00000222036.8	transcript	ENST00000547889.6	protein_coding		624		chr14	TogoVar
POU2AF3_chr11_111293546_111313735	111307989	A A	ACTCACCC others(31): Show ACTCACCCTTACACAAAATGACATCAAAAAAATCGTAGC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0061 a0003c0006t0004g0061	1	468	0.0021	38	c.388 others(51): Show c.388-80_388-79insCTCACCCTTACACAAAATGACATCAAAAAAAT CGTAGC	POU2AF3	ENSG00000214290.9	transcript	ENST00000610738.6	protein_coding	4/4			chr11	TogoVar
POU2F1_chr1_167215886_167432340	167429373	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0114 a0001c0001t0026g0114	1	292	0.0034	38	c.13 others(51): Show c.13563_*13564insTATATATATATATATATATATATATATATATA TATATA	POU2F1	ENSG00000143190.23	transcript	ENST00000367866.7	protein_coding		2034		chr1	TogoVar
POU2F3_chr11_120235140_120324945	120304339	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02080.hp1 HG02074.hp2 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0145 a0001c0001t0001g0105 a0001c0001t0001g0145	2	320	0.0063	38	c.445 others(53): Show c.445-689_445-688insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAGAA	POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU6F2_chr7_38972909_39473601	39005484	C C	CTGTGTGT others(31): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	170	0.0059	38	c.105 others(57): Show c.105+27457_105+27458insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPA2_chr4_105364077_105479062	105460856	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02004.hp1 HG01099.hp2 HG02004.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0002 a0001c0001t0001 a0003c0007t0002	a0001c0001t0001g0213 a0003c0007t0002g0338 a0001c0001t0001g0213 a0003c0007t0002g0338	2	366	0.0055	38	c.158 others(55): Show c.158-4112_158-4111insATATATATATATATATATATATATATAT ATATATATAT	PPA2	ENSG00000138777.20	transcript	ENST00000341695.10	protein_coding	1/11			chr4	TogoVar
PPFIA1_chr11_70265690_70389396	70277060	A A	ATATATTA others(31): Show ATATATTATAATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03516.hp2 HG02486.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0047 a0001c0003t0003g0281 a0001c0003t0003g0047 a0001c0003t0003g0281	2	282	0.0071	38	c.264 others(55): Show c.264+4625_264+4626insATATTATAATATATATATATATATATAT ATATATTTTT	PPFIA1	ENSG00000131626.19	transcript	ENST00000253925.12	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIA1_chr11_70265690_70389396	70277060	A A	ATATTATA others(31): Show ATATTATAATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0017 a0001c0003t0003g0017	1	282	0.0036	38	c.264 others(55): Show c.264+4625_264+4626insATTATAATATATATATATATATATATAT ATATTTTTTT	PPFIA1	ENSG00000131626.19	transcript	ENST00000253925.12	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIA2_chr12_81252975_81764350	81584996	A A	AATATATT others(31): Show AATATATTATATATTAATTATATTTATATATAATATATT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02630.hp1 NA18953.hp1 others(8): Show HG02080.hp2 HG02630.hp1 NA18953.hp1 NA18957.hp1 NA18973.hp1 NA18994.hp2 NA19005.hp1 NA19060.hp1 NA19062.hp2 NA19084.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0005t0001	a0001c0001t0002g0130 a0001c0001t0004g0128 a0001c0001t0004g0162 others(8): Show a0001c0001t0002g0130 a0001c0001t0004g0128 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0002t0001g0045 a0001c0002t0001g0064 a0001c0002t0001g0131 a0001c0002t0003g0009 a0001c0002t0004g0085 a0001c0005t0001g0100 a0001c0005t0001g0105	11	168	0.0655	38	c.303 others(57): Show c.303+91794_303+91795insAATATATTATATATAAATATAATTAA TATATAATATAT	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32			chr12	TogoVar
PPL_chr16_4877507_4942148	4920341	G G	GAAAGAAA others(31): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02970.hp2 HG02818.hp2 HG02970.hp2	a0002 a0002	a0002c0016 a0002c0018 a0002c0016 a0002c0018	a0002c0016t0009 a0002c0018t0018 a0002c0016t0009 a0002c0018t0018	a0002c0016t0009g0299 a0002c0018t0018g0370 a0002c0016t0009g0299 a0002c0018t0018g0370	2	372	0.0054	38	c.63- others(53): Show c.63-9393_63-9392insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	PPL	ENSG00000118898.16	transcript	ENST00000345988.7	protein_coding	1/21			chr16	TogoVar
PPL_chr16_4877507_4942148	4920345	G G	GAGAGAAA others(31): Show GAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02071.hp2 NA19065.hp1 HG02055.hp1 HG02071.hp2 NA19065.hp1	a0003 a0011 a0052 a0003 a0011 a0052	a0003c0003 a0011c0014 a0052c0035 a0003c0003 a0011c0014 a0052c0035	a0003c0003t0002 a0011c0014t0001 a0052c0035t0002 a0003c0003t0002 a0011c0014t0001 a0052c0035t0002	a0003c0003t0002g0085 a0011c0014t0001g0096 a0052c0035t0002g0329 a0003c0003t0002g0085 a0011c0014t0001g0096 a0052c0035t0002g0329	3	372	0.0081	38	c.63- others(53): Show c.63-9397_63-9396insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTCT	PPL	ENSG00000118898.16	transcript	ENST00000345988.7	protein_coding	1/21			chr16	TogoVar
PPM1H_chr12_62638994_62940150	62673715	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0151 a0001c0001t0005g0151	1	252	0.0040	38	c.124 others(57): Show c.1246-6387_1246-6386insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	PPM1H	ENSG00000111110.12	transcript	ENST00000228705.7	protein_coding	8/9			chr12	TogoVar
PPM1L_chr3_160751231_161083902	160808383	C C	CTCTGTGT others(31): Show CTCTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	206	0.0049	38	c.399 others(57): Show c.399+51677_399+51678insCTGTGTGTGTGTGTGTGTGTGTGCGC GCGCGCGCGCGT	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP1R13B_chr14_103728195_103852575	103848846	A A	ACCGCCTC others(31): Show ACCGCCTCCGCCACACCCTCGCCTGGGATCCTAAACAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG01074.hp2 HG01175.hp1 others(24): Show HG00544.hp1 HG01074.hp2 HG01175.hp1 HG01891.hp1 HG02015.hp2 HG02083.hp1 HG02257.hp2 HG02280.hp1 HG02622.hp2 HG02630.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02965.hp2 HG02976.hp1 HG03130.hp1 HG03139.hp2 HG03225.hp2 HG03540.hp1 HG03579.hp2 NA18948.hp2 NA18954.hp2 NA18962.hp2 NA18974.hp2 NA19074.hp1 NA19088.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0003c0004t0001 a0001c0001t0001 a0001c0001t0003 a0003c0004t0001	a0001c0001t0001g0031 a0001c0001t0001g0046 a0001c0001t0001g0047 others(24): Show a0001c0001t0001g0031 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0068 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0003g0026 a0001c0001t0003g0321 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0003g0328 a0003c0004t0001g0013 a0003c0004t0001g0030 a0003c0004t0001g0048 a0003c0004t0001g0051	27	332	0.0813	38	c.-15 others(49): Show c.-1540_-1539insCTTGTTTAGGATCCCAGGCGAGGGTGTGGCGGAG GCGG	PPP1R13B	ENSG00000088808.18	transcript	ENST00000202556.14	protein_coding		1272		chr14	TogoVar
PPP1R16B_chr20_38800697_38928024	38855982	A A	AGAGAGAG others(31): Show AGAGAGAGAGAGAGAAGGAGGAGGAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02922.hp1 HG02145.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0176 a0001c0001t0006g0182 a0001c0001t0001g0176 a0001c0001t0006g0182	2	244	0.0082	38	c.250 others(57): Show c.250+19807_250+19808insGAGAGAGAGAGAGAAGGAGGAGGAGG AGGAGGAGGAGG	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	2/10			chr20	TogoVar
PPP1R26_chr9_135474782_135493892	135475603	G G	GGTATAAA others(31): Show GGTATAAAAGAAGACAACACCAAAAGACAACACCAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0004 a0003c0003t0003g0004	1	462	0.0022	38	c.-47 others(49): Show c.-4748_-4747insGTATAAAAGAAGACAACACCAAAAGACAACACCA AAAC	PPP1R26	ENSG00000196422.11	transcript	ENST00000356818.7	protein_coding		4178		chr9	TogoVar
PPP1R3F_chrX_49264793_49293090	49291316	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 NA18979.hp2 NA19000.hp1 others(3): Show HG00438.hp2 NA18979.hp2 NA19000.hp1 NA19003.hp2 NA19068.hp1 NA19077.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0014 a0005c0006 others(1): Show a0001c0001 a0001c0014 a0005c0006 a0007c0017	a0001c0001t0001 a0001c0014t0001 a0005c0006t0001 others(1): Show a0001c0001t0001 a0001c0014t0001 a0005c0006t0001 a0007c0017t0001	a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0113 others(3): Show a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0113 a0001c0014t0001g0009 a0005c0006t0001g0009 a0007c0017t0001g0099	6	288	0.0208	38	c.42 others(49): Show c.4226_*4227insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTG TCTG	PPP1R3F	ENSG00000049769.14	transcript	ENST00000055335.11	protein_coding		3227		chrX	TogoVar
PPP2R2B_chr5_146575742_146883757	146812815	A A	ATATGTAT others(31): Show ATATGTATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0095	a0001c0001t0095g0115 a0001c0001t0095g0115	1	170	0.0059	38	c.70+ others(55): Show c.70+65186_70+65187insCATATATATATATATATATATATATATA TATATACATA	PPP2R2B	ENSG00000156475.19	transcript	ENST00000394411.9	protein_coding	2/9			chr5	TogoVar
PPP2R2C_chr4_6315581_6477614	6337112	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0054 a0001c0002t0003g0054	1	298	0.0034	38	c.791 others(55): Show c.791-3382_791-3381insTATATATATATATATATATATATACACA CACACACACA	PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	6/8			chr4	TogoVar
PPP2R3B_chrX_328933_391907	329114	C C	CCTCTCTC others(31): Show CCTCTCTCCCCGTCCCCCCTCCTCTCCCCGTCCCCCCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	25	0.0400	38	c.52 others(49): Show c.5252_*5253insTAGGGGGGACGGGGAGAGGAGGGGGGACGGGGAG AGAG	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding		4818		chrX	TogoVar
PPP2R3B_chrX_328933_391907	339472	G G	GGGGGTGA others(31): Show GGGGGTGAGGGGAGGAGCCGGGGGGTGAGGGGAGGAGCC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0016 a0001c0001t0007g0016	1	25	0.0400	38	c.135 others(55): Show c.1352-577_1352-576insGGCTCCTCCCCTCACCCCCCGGCTCCTC CCCTCACCCC	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	10/12			chrX	TogoVar
PPP2R3B_chrX_328933_391907	356938	G G	GAGCCCCA others(31): Show GAGCCCCACGGTAACCACGCCTTGGCCAGCCACACAGCA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0008 a0008	a0008c0005 a0008c0005	a0008c0005t0003 a0008c0005t0003	a0008c0005t0003g0006 a0008c0005t0003g0006	1	25	0.0400	38	c.510 others(55): Show c.510+4466_510+4467insTGCTGTGTGGCTGGCCAAGGCGTGGTTA CCGTGGGGCT	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	2/12			chrX	TogoVar
PPP2R5C_chr14_101756709_101932977	101782260	C C	CCCCTCTC others(31): Show CCCCTCTCTCCCCCTTCCCCTCCCTCTCCCCCTTCCCCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0098 a0002c0002t0001g0098	1	138	0.0073	38	c.94- others(53): Show c.94-3754_94-3753insCTCTCCCCCTTCCCCTCCCTCTCCCCCTTC CCCTCCCT	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP2R5C_chr14_101756709_101932977	101924445	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02083.hp1 HG06807.hp2 others(3): Show HG00408.hp2 HG02083.hp1 HG06807.hp2 NA18612.hp1 NA18963.hp1 NA19012.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0004c0005t0001 a0001c0001t0001 a0001c0001t0002 a0004c0005t0001	a0001c0001t0001g0056 a0001c0001t0001g0067 a0001c0001t0001g0078 others(3): Show a0001c0001t0001g0056 a0001c0001t0001g0067 a0001c0001t0001g0078 a0001c0001t0001g0109 a0001c0001t0002g0125 a0004c0005t0001g0101	6	138	0.0435	38	c.160 others(55): Show c.1609-684_1609-683insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP3CA_chr4_101018418_101352526	101106453	G G	GAAAGAAA others(31): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0157 a0001c0001t0061g0157	1	192	0.0052	38	c.384 others(55): Show c.384+2500_384+2501insTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	3/13			chr4	TogoVar
PPP5C_chr19_46342087_46395975	46389336	C C	CACACACA others(31): Show CACACACACACACACACACACACACACACTCTCCAGCCT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0364 a0001c0001t0003g0364	1	394	0.0025	38	c.135 others(55): Show c.1355+605_1355+606insACACACACACACACACACACACACACAC TCTCCAGCCT	PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding	11/12			chr19	TogoVar
PPP5C_chr19_46342087_46395975	46389394	C C	CACACACA others(31): Show CACACACACACACAGTGTTGAGTAAGACTCCATCTCAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	394	0.0025	38	c.135 others(55): Show c.1356-644_1356-643insGTGTTGAGTAAGACTCCATCTCAAAACA CACACACACA	PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPP6C_chr9_125141573_125194803	125161942	T T	TTACACTT others(31): Show TTACACTTGAAATAAAATTATCATTTAAACTTTTAACAC	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	394	0.0025	38	c.172 others(55): Show c.172-1037_172-1036insGTGTTAAAAGTTTAAATGATAATTTTAT TTCAAGTGTA	PPP6C	ENSG00000119414.12	transcript	ENST00000373547.9	protein_coding	2/6			chr9	TogoVar
PPP6R2_chr22_50338327_50450090	50340634	A A	ACAGTGAC others(31): Show ACAGTGACCAGGGAAACCCCCACAGGGAAGGGCACAGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0249 a0001c0003t0008g0249	1	340	0.0029	38	c.-30 others(49): Show c.-3064_-3063insCAGTGACCAGGGAAACCCCCACAGGGAAGGGCAC AGTG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding		2692		chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50424322	T T	TGTCCGCG others(31): Show TGTCCGCGTGTGGAAGGTCCGTCCGCGTGTGGAAGGTCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02165.hp1 NA19064.hp1 others(1): Show HG00423.hp2 HG02165.hp1 NA19064.hp1 NA19090.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0012 a0001c0001 a0008c0012	a0001c0001t0001 a0008c0012t0020 a0001c0001t0001 a0008c0012t0020	a0001c0001t0001g0074 a0008c0012t0020g0043 a0008c0012t0020g0078 others(1): Show a0001c0001t0001g0074 a0008c0012t0020g0043 a0008c0012t0020g0078 a0008c0012t0020g0079	4	340	0.0118	38	c.112 others(55): Show c.1125+711_1125+712insCGCGTGTGGAAGGTCCGTCCGCGTGTGG AAGGTCCGTC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50424323	G G	GTCCGCGT others(31): Show GTCCGCGTGTGGAAGGTCCGTCCGCGTGTGGAAGGTCCA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0030 a0004c0009t0030	a0004c0009t0030g0041 a0004c0009t0030g0041	1	340	0.0029	38	c.112 others(55): Show c.1125+711_1125+712insCGCGTGTGGAAGGTCCGTCCGCGTGTGG AAGGTCCATC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50424345	C C	CGCGTGTG others(31): Show CGCGTGTGGAAGGTCCGTCCGCGTGTGGAAGGTCTGTCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0009 a0009	a0009c0030 a0009c0030	a0009c0030t0027 a0009c0030t0027	a0009c0030t0027g0069 a0009c0030t0027g0069	1	340	0.0029	38	c.112 others(55): Show c.1125+764_1125+765insTGTCAGCGTGTGGAAGGTCCGTCCGCGT GTGGAAGGTC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R3_chr11_68455752_68620334	68506414	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0229 a0001c0001t0005g0229	1	252	0.0040	38	c.-15 others(59): Show c.-157-13053_-157-13052insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar

Search by Variant

Search

Search Results (Total: 5880 hits)