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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PCSK6_chr15_101298933_101494707	101426740	C C	CGGCTGCA others(40): Show CGGCTGCAGCCACCCTCACCAAGGCTCGGTGGCAGAACGGCAGAAAGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18906.hp1 NA21309.hp2 HG02280.hp2 NA18906.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0008 a0001c0001 a0001c0002 a0002c0008	a0001c0001t0002 a0001c0002t0005 a0002c0008t0001 a0001c0001t0002 a0001c0002t0005 a0002c0008t0001	a0001c0001t0002g0248 a0001c0002t0005g0187 a0002c0008t0001g0020 a0001c0001t0002g0248 a0001c0002t0005g0187 a0002c0008t0001g0020	3	336	0.0089	47	c.823 others(64): Show c.823+1105_823+1151dupACTTTCTGCCGTTCTGCCACCGAGCCTT GGTGAGGGTGGCTGCAGCC		PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	6/21						chr15	TogoVar
PDGFA_chr7_492258_524846	511336	T T	TGGCAGGG others(40): Show TGGCAGGGGCAGAGGGGAACTTAGTCCAGGTGCGGCCAGTGGCTGGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00609.hp1 others(46): Show HG00099.hp1 HG00544.hp1 HG00609.hp1 HG01106.hp2 HG01175.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01891.hp2 HG01934.hp1 HG02040.hp1 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02486.hp1 HG02602.hp1 HG03130.hp2 HG03492.hp2 HG03704.hp2 HG04115.hp1 HG04184.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18959.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp2 NA18995.hp2 NA18999.hp2 NA19004.hp1 NA19007.hp1 NA19043.hp1 NA19057.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19084.hp1 NA19090.hp1 NA19240.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(25): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0001t0023 a0001c0001t0027 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0041 a0001c0001t0044 a0001c0001t0095 a0001c0001t0098 a0001c0001t0101 a0001c0001t0106 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0001c0001t0124 a0001c0001t0127 a0001c0001t0128 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010	a0001c0001t0001g0005 a0001c0001t0001g0166 a0001c0001t0001g0189 others(45): Show a0001c0001t0001g0005 a0001c0001t0001g0166 a0001c0001t0001g0189 a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0001g0215 a0001c0001t0001g0221 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0268 a0001c0001t0005g0193 a0001c0001t0007g0197 a0001c0001t0007g0199 a0001c0001t0007g0202 a0001c0001t0014g0198 a0001c0001t0023g0271 a0001c0001t0027g0093 a0001c0001t0027g0094 a0001c0001t0034g0280 a0001c0001t0036g0257 a0001c0001t0037g0236 a0001c0001t0037g0237 a0001c0001t0039g0225 a0001c0001t0041g0214 a0001c0001t0041g0216 a0001c0001t0044g0006 a0001c0001t0095g0227 a0001c0001t0098g0269 a0001c0001t0101g0251 a0001c0001t0106g0196 a0001c0001t0121g0212 a0001c0001t0122g0228 a0001c0001t0123g0213 a0001c0001t0124g0226 a0001c0001t0127g0230 a0001c0001t0128g0229 a0001c0002t0001g0224 a0001c0002t0002g0026 a0001c0002t0002g0054 a0001c0002t0002g0056 a0001c0002t0006g0030 a0001c0002t0006g0051 a0001c0002t0007g0252 a0001c0002t0008g0027 a0001c0002t0008g0055 a0001c0002t0010g0031	49	302	0.1623	47	c.266 others(62): Show c.266-341_266-340insCTCCAGCCACTGGCCGCACCTGGACTAAGT TCCCCTCTGCCCCTGCC		PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	3/5						chr7	TogoVar
PDGFA_chr7_492258_524846	511336	T T	TGGCAGGG others(40): Show TGGCAGGGGCAGAGGGGAACTTAGTCCAGGTGCGGCCGGTGGCTGGAG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03453.hp2 HG03471.hp2 others(1): Show HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0033 a0001c0001t0048 a0001c0001t0061 others(1): Show a0001c0001t0033 a0001c0001t0048 a0001c0001t0061 a0001c0002t0033	a0001c0001t0033g0154 a0001c0001t0048g0009 a0001c0001t0061g0020 others(1): Show a0001c0001t0033g0154 a0001c0001t0048g0009 a0001c0001t0061g0020 a0001c0002t0033g0171	4	302	0.0133	47	c.266 others(62): Show c.266-341_266-340insCTCCAGCCACCGGCCGCACCTGGACTAAGT TCCCCTCTGCCCCTGCC		PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	3/5						chr7	TogoVar
PDGFA_chr7_492258_524846	511336	T T	TGGCGGGG others(40): Show TGGCGGGGGCAGAGGGGAACCTAGTCCAGGTGCGGCCAGTGGCTGGAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01361.hp2 HG02055.hp1 others(4): Show HG00738.hp2 HG01361.hp2 HG02055.hp1 HG02258.hp2 HG03492.hp1 HG03710.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0035 a0001c0002t0045 others(3): Show a0001c0002t0031 a0001c0002t0035 a0001c0002t0045 a0001c0002t0056 a0001c0002t0083 a0001c0002t0084	a0001c0002t0031g0178 a0001c0002t0031g0179 a0001c0002t0035g0152 others(4): Show a0001c0002t0031g0178 a0001c0002t0031g0179 a0001c0002t0035g0152 a0001c0002t0045g0008 a0001c0002t0056g0089 a0001c0002t0083g0079 a0001c0002t0084g0180	7	302	0.0232	47	c.266 others(62): Show c.266-341_266-340insCTCCAGCCACTGGCCGCACCTGGACTAGGT TCCCCTCTGCCCCCGCC		PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	3/5						chr7	TogoVar
PDGFA_chr7_492258_524846	511336	T T	TGGCGGGG others(40): Show TGGCGGGGGCAGAGGGGAACTTAGTCCAGGTGCGGCCAGTGGCTGGAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0260 a0001c0001t0035g0260	1	302	0.0033	47	c.266 others(62): Show c.266-341_266-340insCTCCAGCCACTGGCCGCACCTGGACTAAGT TCCCCTCTGCCCCCGCC		PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	3/5						chr7	TogoVar
PDGFA_chr7_492258_524846	511383	C C	CGGGGGGA others(40): Show CGGGGGGAAGGGGGACTTAGTCCAGGTGGGGCCAGTGGCTGGGGGAGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG02129.hp2 others(7): Show HG00099.hp1 HG00544.hp1 HG02129.hp2 NA18948.hp2 NA18966.hp1 NA18967.hp2 NA18981.hp1 NA18995.hp2 NA19074.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0014 a0001c0001t0095 others(6): Show a0001c0001t0007 a0001c0001t0014 a0001c0001t0095 a0001c0001t0106 a0001c0001t0121 a0001c0001t0122 a0001c0001t0124 a0001c0002t0001 a0001c0002t0006	a0001c0001t0007g0197 a0001c0001t0007g0199 a0001c0001t0014g0198 others(7): Show a0001c0001t0007g0197 a0001c0001t0007g0199 a0001c0001t0014g0198 a0001c0001t0095g0227 a0001c0001t0106g0196 a0001c0001t0121g0212 a0001c0001t0122g0228 a0001c0001t0124g0226 a0001c0002t0001g0224 a0001c0002t0006g0051	10	302	0.0331	47	c.266 others(62): Show c.266-388_266-387insCCTCCCCCAGCCACTGGCCCCACCTGGACT AAGTCCCCCTTCCCCCC		PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	3/5						chr7	TogoVar
PDGFD_chr11_103902189_104169147	104084812	T T	TTATAAAA others(40): Show TTATAAAATATATATTTTATAAGTATTATAAAATATATATTTTATAAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03471.hp1 HG02976.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0001 a0001c0001t0010 a0001c0002t0001	a0001c0001t0010g0129 a0001c0002t0001g0111 a0001c0001t0010g0129 a0001c0002t0001g0111	2	200	0.0100	47	c.124 others(66): Show c.124+78991_124+78992insCTTATAAAATATATATTTTATAATAC TTATAAAATATATATTTTATA		PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6						chr11	TogoVar
PDIA2_chr16_278164_292215	285925	T T	TCCCAACC others(40): Show TCCCAACCCCAACCCCAACACCAACCCCGCGGTTCTCCCAACCCCAAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01243.hp2 HG01346.hp2 HG01192.hp2 HG01243.hp2 HG01346.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0046 a0008c0007t0001g0141 a0008c0007t0001g0046 a0008c0007t0001g0141	3	436	0.0069	47	c.111 others(64): Show c.1119+240_1119+241insACCAACCCCGCGGTTCTCCCAACCCCAA CCCCAACCCCAACCCCAAC		PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
PDLIM1_chr10_95232572_95296003	95256976	A A	AGAAAGAA others(40): Show AGAAAGAAAGAAAGGAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01978.hp1 others(1): Show HG01256.hp1 HG01258.hp1 HG01978.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0285 others(1): Show a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0285 a0001c0002t0002g0299	4	338	0.0118	47	c.533 others(64): Show c.533+6887_533+6888insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TCTTTCCTTTCTTTCTTTC		PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6						chr10	TogoVar
PDLIM7_chr5_177478394_177502604	177486931	C C	CAGCCTGG others(40): Show CAGCCTGGACAACATAGTGAGGCTTTGTCTCTACAAAAGATTAAAAAA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0144 a0001c0002t0001g0144	1	440	0.0023	47	c.105 others(66): Show c.1050+1136_1050+1137insTTTTTTAATCTTTTGTAGAGACAAAG CCTCACTATGTTGTCCAGGCT		PDLIM7	ENSG00000196923.14	transcript	ENST00000355841.7	protein_coding	10/12						chr5	TogoVar
PDPN_chr1_13578832_13622957	13588571	T T	TATATATA others(40): Show TATATATAATATAAATATATAACTATATATTATATATTTACATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG00738.hp1 others(66): Show HG00140.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG02109.hp1 HG02155.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02922.hp2 HG02965.hp1 HG03098.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03688.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA18961.hp1 NA18963.hp2 NA18980.hp2 NA18987.hp1 NA18991.hp1 NA19030.hp1 NA19063.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0019 a0001c0001t0021 a0001c0001t0026 a0001c0001t0029 a0001c0001t0047 a0001c0001t0050 a0001c0001t0057 a0001c0001t0060 a0001c0002t0026 a0002c0003t0055	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0010 others(61): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0144 a0001c0001t0002g0006 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0077 a0001c0001t0002g0081 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0004g0030 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0069 a0001c0001t0004g0071 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0082 a0001c0001t0004g0086 a0001c0001t0004g0089 a0001c0001t0004g0091 a0001c0001t0005g0207 a0001c0001t0007g0072 a0001c0001t0007g0108 a0001c0001t0008g0037 a0001c0001t0009g0028 a0001c0001t0009g0029 a0001c0001t0009g0090 a0001c0001t0010g0215 a0001c0001t0019g0216 a0001c0001t0019g0413 a0001c0001t0021g0106 a0001c0001t0026g0096 a0001c0001t0029g0085 a0001c0001t0029g0103 a0001c0001t0047g0076 a0001c0001t0050g0073 a0001c0001t0057g0109 a0001c0001t0060g0098 a0001c0002t0026g0093 a0002c0003t0055g0087	69	446	0.1547	47	c.67+ others(62): Show c.67+4519_67+4565dupATATATAATATAAATATATAACTATATATT ATATATTTACATATATA		PDPN	ENSG00000162493.17	transcript	ENST00000621990.5	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
PDPN_chr1_13578832_13622957	13588612	A A	ATATATAA others(40): Show ATATATAATATATAATATAAATATATAACTATATATTATATATTTACG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03579.hp2 HG02809.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0059 a0001c0001t0001 a0001c0001t0059	a0001c0001t0001g0111 a0001c0001t0059g0110 a0001c0001t0001g0111 a0001c0001t0059g0110	2	446	0.0045	47	c.67+ others(62): Show c.67+4558_67+4559insGTATATAATATATAATATAAATATATAACT ATATATTATATATTTAC		PDPN	ENSG00000162493.17	transcript	ENST00000621990.5	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
PDXK_chr21_43714129_43767299	43741151	G G	GGCGGGGG others(40): Show GGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0229 a0001c0003t0008g0229	1	358	0.0028	47	c.143 others(62): Show c.143-508_143-507insGCTCGCGGGGGGCTCGCGGGGGGGCTCGCG GGGGGGCTCGCGGGGGG		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741211	C C	CGGGGGGC others(40): Show CGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0028 a0001c0002t0003g0028	1	358	0.0028	47	c.143 others(62): Show c.143-439_143-438insGCTCGCGGGGGGCTCGCGGGGGGGCTCGCG GGGGGGCTCGCGGGGGG		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741211	C C	CGGGGGGG others(40): Show CGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0357 a0001c0001t0007g0357	1	358	0.0028	47	c.143 others(62): Show c.143-450_143-449insGCTCGCGGGGGGGCTCGCGGGGGGCTCGCG GGGGGCTCGCGGGGGGG		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741211	C C	CGGGGGGG others(40): Show CGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	358	0.0028	47	c.143 others(62): Show c.143-450_143-449insGCTCGCGGGGGGGCTCGCGGGGGGCTGGCG GGGGGCTCGCGGGGGGG		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741280	G G	GGGGGGGC others(40): Show GGGGGGGCTCGCGGGGGGCTGGCGGGGGGGGCTCGCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	358	0.0028	47	c.143 others(62): Show c.143-370_143-369insCTGGCGGGGGGGGCTCGCGGGGGGGCTCGC GGGGGGCTCGCGGGGGG		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PEX5_chr12_7184686_7216459	7196626	A A	AATAATTA others(40): Show AATAATTATATGTCATACATAATGTAATAATTATATGTCATACATAAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01346.hp2 HG00621.hp2 HG01346.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0005 a0001c0001t0005 a0002c0002t0005	a0001c0001t0005g0208 a0002c0002t0005g0322 a0001c0001t0005g0208 a0002c0002t0005g0322	2	428	0.0047	47	c.449 others(64): Show c.449-2375_449-2374insGTCATACATAATGTAATAATTATATGTC ATACATAATATAATTATAT		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7196653	A A	AATAATTA others(40): Show AATAATTATATGTCATACATAATGTAATAATTATATGTCATACATAAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0318 a0002c0002t0005g0318	1	428	0.0023	47	c.449 others(64): Show c.449-2348_449-2347insGTCATACATAATGTAATAATTATATGTC ATACATAATATAATTATAT		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7196680	A A	AATAATTA others(40): Show AATAATTATATGTCATACATAATGTAATAATTATATGTCATACATAAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0310 a0002c0002t0005g0310	1	428	0.0023	47	c.449 others(64): Show c.449-2321_449-2320insGTCATACATAATGTAATAATTATATGTC ATACATAATATAATTATAT		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197365	T T	TATATGTC others(40): Show TATATGTCATATACAATGTAATAATTATATATGTCATATACAATGTAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0322 a0002c0002t0005g0322	1	428	0.0023	47	c.449 others(64): Show c.449-1646_449-1645insATATGTCATATACAATGTAATAATTATA TATGTCATATACAATGTAA		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15						chr12	TogoVar
PFKP_chr10_3062548_3141802	3085283	C C	CCCCCTCC others(40): Show CCCCCTCCCCAGCACAGTCCCCCACCCCCTCCCCAGCACAGTCCCCCA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0258 a0001c0009t0001g0258	1	402	0.0025	47	c.186 others(64): Show c.186+2822_186+2823insCCCCTCCCCAGCACAGTCCCCCACCCCC TCCCCAGCACAGTCCCCCA		PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21						chr10	TogoVar
PFKP_chr10_3062548_3141802	3085308	C C	CCCCCTCC others(40): Show CCCCCTCCCCAGCACAGTCCCCCACCCCCTCCCCAGCACAGTCCCCCA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00558.hp1 others(62): Show HG00423.hp1 HG00438.hp1 HG00558.hp1 HG01257.hp2 HG01261.hp1 HG01928.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02071.hp1 HG02129.hp1 HG02148.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02735.hp1 HG02735.hp2 HG02965.hp1 HG03453.hp2 HG03491.hp1 HG03654.hp2 HG03688.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18962.hp2 NA18968.hp1 NA18971.hp1 NA18973.hp1 NA18981.hp1 NA18988.hp1 NA18993.hp2 NA18995.hp1 NA18999.hp1 NA19002.hp2 NA19010.hp2 NA19012.hp2 NA19057.hp2 NA19058.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19081.hp1 NA19082.hp2 NA19087.hp1 NA19240.hp2	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0014 a0001c0020 a0001c0022 a0001c0027 a0001c0029 a0001c0037 a0001c0046 a0001c0057 a0001c0067 a0006c0035 a0009c0054	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(26): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 a0001c0003t0012 a0001c0004t0006 a0001c0005t0002 a0001c0005t0006 a0001c0005t0008 a0001c0006t0001 a0001c0007t0005 a0001c0008t0001 a0001c0008t0005 a0001c0009t0001 a0001c0010t0001 a0001c0014t0004 a0001c0020t0001 a0001c0022t0001 a0001c0027t0005 a0001c0029t0001 a0001c0037t0002 a0001c0046t0003 a0001c0057t0009 a0001c0067t0005 a0006c0035t0005 a0009c0054t0003	a0001c0001t0002g0266 a0001c0001t0002g0298 a0001c0001t0002g0338 others(62): Show a0001c0001t0002g0266 a0001c0001t0002g0298 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0277 a0001c0001t0003g0286 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0315 a0001c0001t0003g0317 a0001c0001t0003g0319 a0001c0001t0003g0323 a0001c0001t0003g0341 a0001c0001t0006g0127 a0001c0001t0006g0312 a0001c0001t0008g0300 a0001c0002t0002g0309 a0001c0002t0004g0311 a0001c0002t0004g0318 a0001c0003t0001g0021 a0001c0003t0001g0085 a0001c0003t0001g0135 a0001c0003t0001g0159 a0001c0003t0001g0259 a0001c0003t0001g0262 a0001c0003t0001g0268 a0001c0003t0001g0276 a0001c0003t0001g0284 a0001c0003t0001g0301 a0001c0003t0001g0302 a0001c0003t0001g0313 a0001c0003t0012g0263 a0001c0004t0006g0293 a0001c0005t0002g0282 a0001c0005t0002g0310 a0001c0005t0002g0326 a0001c0005t0006g0307 a0001c0005t0008g0306 a0001c0006t0001g0065 a0001c0006t0001g0291 a0001c0006t0001g0327 a0001c0007t0005g0093 a0001c0008t0001g0267 a0001c0008t0005g0299 a0001c0008t0005g0342 a0001c0008t0005g0362 a0001c0009t0001g0322 a0001c0010t0001g0163 a0001c0014t0004g0162 a0001c0014t0004g0273 a0001c0020t0001g0324 a0001c0022t0001g0280 a0001c0022t0001g0294 a0001c0022t0001g0305 a0001c0027t0005g0321 a0001c0029t0001g0275 a0001c0029t0001g0304 a0001c0037t0002g0219 a0001c0046t0003g0062 a0001c0057t0009g0332 a0001c0067t0005g0270 a0006c0035t0005g0269 a0009c0054t0003g0265	65	402	0.1617	47	c.186 others(64): Show c.186+2847_186+2848insCCCCTCCCCAGCACAGTCCCCCACCCCC TCCCCAGCACAGTCCCCCA		PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21						chr10	TogoVar
PFKP_chr10_3062548_3141802	3085333	C C	CCCCCTCC others(40): Show CCCCCTCCCCAGCACAGTCCCCCACCCCCTCCCCAGCACAGTCCCCCA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0316 a0001c0003t0001g0316	1	402	0.0025	47	c.186 others(64): Show c.186+2872_186+2873insCCCCTCCCCAGCACAGTCCCCCACCCCC TCCCCAGCACAGTCCCCCA		PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21						chr10	TogoVar
PFKP_chr10_3062548_3141802	3085455	A A	ACCCCTTC others(40): Show ACCCCTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGCACAATCCCCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0029 a0001c0002t0002g0029	1	402	0.0025	47	c.186 others(64): Show c.186+2994_186+2995insCCCCTTCCCCAGCACAGTCCCCCACCCC TTCCCCAGCACAATCCCCC		PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21						chr10	TogoVar
PFKP_chr10_3062548_3141802	3085697	C C	CCCCTTCC others(40): Show CCCCTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGCACAGTCCCCCA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18950.hp1 NA18747.hp2 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0039 a0001c0002 a0001c0039	a0001c0002t0002 a0001c0039t0005 a0001c0002t0002 a0001c0039t0005	a0001c0002t0002g0345 a0001c0039t0005g0372 a0001c0002t0002g0345 a0001c0039t0005g0372	2	402	0.0050	47	c.186 others(64): Show c.186+3236_186+3237insCCCTTCCCCAGCACAGTCCCCCACCCCT TCCCCAGCACAGTCCCCCA		PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21						chr10	TogoVar
PFKP_chr10_3062548_3141802	3085757	C C	CAGCACAG others(40): Show CAGCACAGTCCCCCACTCCACTCCAGCACAGTCCTCCACCCCCTCCCT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0003 a0001c0033t0003	a0001c0033t0003g0077 a0001c0033t0003g0077	1	402	0.0025	47	c.186 others(64): Show c.186+3306_186+3307insCCCACTCCACTCCAGCACAGTCCTCCAC CCCCTCCCTAGCACAGTCC		PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3115259	T T	TGGGGTGA others(40): Show TGGGGTGAAAGTGTGTGTCCCACGGCGGAGGACAGGACTGGGGATGCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0011 a0001c0017t0011	a0001c0017t0011g0396 a0001c0017t0011g0396	1	402	0.0025	47	c.137 others(66): Show c.1372-1471_1372-1470insCGGGGTGAAAGTGTGTGTCCCACGGC GGAGGACAGGACTGGGGATGC		PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	13/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3115284	C C	CGGAGGAC others(40): Show CGGAGGACAGGACTGGGGATGCCGGGGTGAAGGTGTGTGTCCCGCGGT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02717.hp2 NA18612.hp1 HG02135.hp2 HG02717.hp2 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0026 a0001c0029 a0001c0002 a0001c0026 a0001c0029	a0001c0002t0010 a0001c0026t0001 a0001c0029t0001 a0001c0002t0010 a0001c0026t0001 a0001c0029t0001	a0001c0002t0010g0023 a0001c0026t0001g0400 a0001c0029t0001g0304 a0001c0002t0010g0023 a0001c0026t0001g0400 a0001c0029t0001g0304	3	402	0.0075	47	c.137 others(66): Show c.1372-1471_1372-1470insCGGGGTGAAGGTGTGTGTCCCGCGGT GGAGGACAGGACTGGGGATGC		PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	13/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3115374	G G	GCGGTGGA others(40): Show GCGGTGGAGGACAGGACTGGGGATGCCGGGGTGAAAGTGTGTGTCCCA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0065 a0001c0065	a0001c0065t0001 a0001c0065t0001	a0001c0065t0001g0165 a0001c0065t0001g0165	1	402	0.0025	47	c.137 others(66): Show c.1372-1401_1372-1400insGGTGGAGGACAGGACTGGGGATGCCG GGGTGAAAGTGTGTGTCCCAC		PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	13/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3115403	G G	GGTGAAGG others(40): Show GGTGAAGGTGTGTGTCCCGCCGTGGAGGACAGGACTGGGGATGCTGGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02257.hp1 HG02970.hp2 others(2): Show HG00438.hp1 HG02257.hp1 HG02970.hp2 HG03831.hp1 NA19043.hp1	a0001 a0001	a0001c0011 a0001c0014 a0001c0011 a0001c0014	a0001c0011t0004 a0001c0011t0006 a0001c0014t0002 others(2): Show a0001c0011t0004 a0001c0011t0006 a0001c0014t0002 a0001c0014t0004 a0001c0014t0006	a0001c0011t0004g0196 a0001c0011t0006g0188 a0001c0014t0002g0272 others(2): Show a0001c0011t0004g0196 a0001c0011t0006g0188 a0001c0014t0002g0272 a0001c0014t0004g0273 a0001c0014t0006g0390	5	402	0.0124	47	c.137 others(66): Show c.1372-1353_1372-1352insGTGGAGGACAGGACTGGGGATGCTGG AGTGAAGGTGTGTGTCCCGCC		PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	13/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3115430	G G	GACAGGAC others(40): Show GACAGGACTGGGGATGCTGGAGTGAAGGTGTGTGTCCCGCAGCTGAGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01099.hp2 HG01243.hp1 others(12): Show HG00642.hp2 HG01099.hp2 HG01243.hp1 HG01243.hp2 HG01346.hp2 HG02647.hp1 HG02723.hp1 HG03098.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03579.hp2 HG04199.hp1 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0011 a0001c0014 others(5): Show a0001c0004 a0001c0011 a0001c0014 a0001c0017 a0001c0024 a0001c0026 a0001c0059 a0002c0013	a0001c0004t0004 a0001c0011t0004 a0001c0014t0004 others(6): Show a0001c0004t0004 a0001c0011t0004 a0001c0014t0004 a0001c0014t0006 a0001c0017t0011 a0001c0024t0001 a0001c0026t0001 a0001c0059t0004 a0002c0013t0004	a0001c0004t0004g0234 a0001c0011t0004g0391 a0001c0014t0004g0162 others(12): Show a0001c0004t0004g0234 a0001c0011t0004g0391 a0001c0014t0004g0162 a0001c0014t0006g0213 a0001c0014t0006g0353 a0001c0017t0011g0357 a0001c0024t0001g0356 a0001c0026t0001g0171 a0001c0059t0004g0240 a0002c0013t0004g0005 a0002c0013t0004g0026 a0002c0013t0004g0249 a0002c0013t0004g0252 a0002c0013t0004g0253 a0002c0013t0004g0335	15	402	0.0373	47	c.137 others(66): Show c.1372-1330_1372-1329insTGGAGTGAAGGTGTGTGTCCCGCAGC TGAGAACAGGACTGGGGATGC		PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	13/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3115561	C C	CGCCACGG others(40): Show CGCCACGGAGAACAGGACTGGGGATGCCGGGGTGAAGGTGTGTGTCCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18906.hp1 NA19030.hp2 HG02145.hp2 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0044 a0001c0045 a0001c0058 a0001c0044 a0001c0045 a0001c0058	a0001c0044t0009 a0001c0045t0003 a0001c0058t0010 a0001c0044t0009 a0001c0045t0003 a0001c0058t0010	a0001c0044t0009g0181 a0001c0045t0003g0364 a0001c0058t0010g0215 a0001c0044t0009g0181 a0001c0045t0003g0364 a0001c0058t0010g0215	3	402	0.0075	47	c.137 others(66): Show c.1372-1215_1372-1214insGCCACGGAGAACAGGACTGGGGATGC CGGGGTGAAGGTGTGTGTCCT		PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	13/21						chr10	TogoVar
PGAP3_chr17_39666122_39693057	39685945	T T	TGGGGGGG others(40): Show TGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	frameshift_variant frameshift_variant	HIGH	HG00609.hp1 HG00609.hp1	a0008 a0008	a0008c0005 a0008c0005	a0008c0005t0001 a0008c0005t0001	a0008c0005t0001g0122 a0008c0005t0001g0122	1	376	0.0027	47	c.255 others(54): Show c.255_256insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACCC CCCCCCCCC	p.Lys others(4): Show p.Lys86fs	PGAP3	ENSG00000161395.14	transcript	ENST00000300658.9	protein_coding	2/8	298/2687	255/963	85/320			chr17	TogoVar
PGBD5_chr1_230309490_230431332	230419276	A A	AGGTCATT others(40): Show AGGTCATTATCCTAAGTGAACTAATGCAGGAATAGAAAACCAAACACT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp2 HG01069.hp1 others(54): Show HG00609.hp2 HG00673.hp2 HG01069.hp1 HG01071.hp1 HG01258.hp2 HG01261.hp1 HG01496.hp2 HG01928.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02080.hp1 HG02135.hp1 HG02258.hp1 HG02293.hp2 HG02451.hp1 HG02559.hp1 HG02622.hp1 HG02647.hp2 HG02818.hp1 HG02896.hp1 HG03130.hp2 HG03209.hp1 HG03669.hp2 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18940.hp2 NA18944.hp2 NA18952.hp2 NA18953.hp2 NA18955.hp2 NA18956.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp2 NA18971.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18984.hp2 NA18995.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19056.hp1 NA19057.hp2 NA19063.hp2 NA19077.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008	a0001c0001t0006 a0001c0001t0010 a0001c0001t0017 others(36): Show a0001c0001t0006 a0001c0001t0010 a0001c0001t0017 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0041 a0001c0001t0073 a0001c0001t0090 a0001c0001t0091 a0001c0001t0126 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0001t0133 a0001c0001t0134 a0001c0001t0135 a0001c0001t0136 a0001c0001t0137 a0001c0001t0138 a0001c0001t0139 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0002t0003 a0001c0002t0027 a0001c0002t0124 a0001c0002t0125 a0001c0002t0140 a0001c0002t0141 a0001c0002t0142 a0001c0002t0143 a0001c0002t0144 a0001c0004t0018 a0001c0005t0036 a0001c0008t0115	a0001c0001t0006g0023 a0001c0001t0010g0019 a0001c0001t0010g0024 others(54): Show a0001c0001t0006g0023 a0001c0001t0010g0019 a0001c0001t0010g0024 a0001c0001t0017g0020 a0001c0001t0025g0257 a0001c0001t0025g0263 a0001c0001t0025g0281 a0001c0001t0026g0244 a0001c0001t0026g0247 a0001c0001t0026g0272 a0001c0001t0028g0018 a0001c0001t0041g0264 a0001c0001t0041g0279 a0001c0001t0073g0021 a0001c0001t0090g0009 a0001c0001t0091g0017 a0001c0001t0126g0256 a0001c0001t0127g0286 a0001c0001t0128g0270 a0001c0001t0129g0265 a0001c0001t0130g0276 a0001c0001t0131g0269 a0001c0001t0132g0278 a0001c0001t0133g0277 a0001c0001t0134g0280 a0001c0001t0135g0258 a0001c0001t0136g0261 a0001c0001t0137g0282 a0001c0001t0138g0255 a0001c0001t0139g0252 a0001c0001t0145g0250 a0001c0001t0146g0273 a0001c0001t0147g0287 a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0248 a0001c0002t0003g0259 a0001c0002t0003g0262 a0001c0002t0003g0267 a0001c0002t0003g0268 a0001c0002t0003g0271 a0001c0002t0003g0275 a0001c0002t0003g0283 a0001c0002t0003g0285 a0001c0002t0027g0254 a0001c0002t0027g0266 a0001c0002t0027g0274 a0001c0002t0124g0242 a0001c0002t0125g0243 a0001c0002t0140g0260 a0001c0002t0141g0253 a0001c0002t0142g0284 a0001c0002t0143g0251 a0001c0002t0144g0249 a0001c0004t0018g0022 a0001c0005t0036g0010 a0001c0008t0115g0016	57	288	0.1979	47	c.331 others(64): Show c.331+6275_331+6321dupAGTGTTTGGTTTTCTATTCCTGCATTAG TTCACTTAGGATAATGACC		PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	1/6						chr1	TogoVar
PGBD5_chr1_230309490_230431332	230419276	A A	AGGTCATT others(40): Show AGGTCATTATCCTATGTGAACTAATGCAGGAATAGAAAACCAAACACT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01169.hp1 HG02735.hp2 others(4): Show HG00099.hp2 HG01169.hp1 HG02735.hp2 HG03688.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp2	a0002 a0002	a0002c0003 a0002c0012 a0002c0003 a0002c0012	a0002c0003t0002 a0002c0003t0013 a0002c0003t0021 others(2): Show a0002c0003t0002 a0002c0003t0013 a0002c0003t0021 a0002c0003t0063 a0002c0012t0015	a0002c0003t0002g0237 a0002c0003t0013g0241 a0002c0003t0021g0236 others(4): Show a0002c0003t0002g0237 a0002c0003t0013g0241 a0002c0003t0021g0236 a0002c0003t0021g0238 a0002c0003t0021g0240 a0002c0003t0063g0235 a0002c0012t0015g0239	7	288	0.0243	47	c.331 others(64): Show c.331+6321_331+6322insAGTGTTTGGTTTTCTATTCCTGCATTAG TTCACATAGGATAATGACC		PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	1/6						chr1	TogoVar
PGPEP1_chr19_18335598_18374950	18364103	T T	TCTTTCTT others(40): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTGCTTTCTTTCTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0144 a0001c0001t0144	a0001c0001t0144g0135 a0001c0001t0144g0135	1	412	0.0024	47	c.53 others(56): Show c.531_*532insTCTTTCTTTCTTTCTTTCTTCTTGCTTTCTTTCTTG CTTTCTTTCTT		PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	5/5				532	INFO_REALIGN_3_PRIME	chr19	TogoVar
PHF2_chr9_93571584_93684587	93587487	T T	TGATGGAG others(40): Show TGATGGAGGAGCCCCCGGTGAGGGATGATGGAGGAGTCCCAGATGGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp2 HG01069.hp1 others(12): Show HG00639.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01109.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp2 HG02155.hp2 HG02165.hp1 NA18968.hp2 NA19065.hp2 NA19079.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0002c0002 a0001c0003 a0001c0004 a0002c0002	a0001c0003t0003 a0001c0004t0005 a0001c0004t0010 others(1): Show a0001c0003t0003 a0001c0004t0005 a0001c0004t0010 a0002c0002t0001	a0001c0003t0003g0065 a0001c0004t0005g0002 a0001c0004t0005g0066 others(9): Show a0001c0003t0003g0065 a0001c0004t0005g0002 a0001c0004t0005g0066 a0001c0004t0005g0067 a0001c0004t0005g0068 a0001c0004t0005g0070 a0001c0004t0005g0071 a0001c0004t0005g0072 a0001c0004t0005g0074 a0001c0004t0010g0004 a0002c0002t0001g0069 a0002c0002t0001g0073	15	350	0.0429	47	c.98+ others(64): Show c.98+10630_98+10631insCGGTGAGGGATGATGGAGGAGTCCCAGA TGGTGGATGGAGGAGCCCC		PHF2	ENSG00000197724.12	transcript	ENST00000359246.9	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr9	TogoVar
PHF2_chr9_93571584_93684587	93587487	T T	TGATGGAG others(40): Show TGATGGAGGAGCCCCGGGTGAGGGATGATGGAGGAGTCCCAGATGGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(272): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0007	a0001c0001 a0001c0003 a0001c0005 others(17): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0012 a0001c0013 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0001c0026 a0002c0002 a0002c0009 a0002c0011 a0002c0024 a0004c0010 a0004c0016 a0005c0008 a0007c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0003t0003 a0001c0003t0007 a0001c0003t0008 a0001c0003t0009 a0001c0005t0005 a0001c0005t0010 a0001c0005t0014 a0001c0007t0001 a0001c0007t0012 a0001c0012t0005 a0001c0013t0001 a0001c0019t0002 a0001c0020t0002 a0001c0021t0002 a0001c0022t0002 a0001c0023t0003 a0001c0026t0003 a0002c0002t0001 a0002c0002t0004 a0002c0002t0017 a0002c0009t0006 a0002c0011t0001 a0002c0024t0001 a0004c0010t0009 a0004c0016t0009 a0005c0008t0008 a0007c0018t0004	a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0273 others(264): Show a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0284 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0323 a0001c0001t0002g0001 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0150 a0001c0001t0002g0157 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0180 a0001c0001t0002g0185 a0001c0001t0002g0215 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0293 a0001c0001t0002g0313 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0325 a0001c0001t0002g0327 a0001c0001t0002g0329 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0337 a0001c0001t0008g0291 a0001c0001t0008g0292 a0001c0001t0011g0177 a0001c0001t0011g0232 a0001c0001t0011g0243 a0001c0001t0013g0324 a0001c0001t0015g0122 a0001c0001t0016g0223 a0001c0001t0018g0199 a0001c0001t0021g0272 a0001c0001t0022g0314 a0001c0001t0024g0129 a0001c0003t0003g0003 a0001c0003t0003g0008 a0001c0003t0003g0012 a0001c0003t0003g0015 a0001c0003t0003g0018 a0001c0003t0003g0019 a0001c0003t0003g0021 a0001c0003t0003g0064 a0001c0003t0003g0194 a0001c0003t0003g0195 a0001c0003t0003g0196 a0001c0003t0003g0197 a0001c0003t0003g0198 a0001c0003t0003g0204 a0001c0003t0003g0206 a0001c0003t0003g0212 a0001c0003t0003g0230 a0001c0003t0003g0262 a0001c0003t0003g0263 a0001c0003t0003g0264 a0001c0003t0003g0265 a0001c0003t0003g0266 a0001c0003t0003g0267 a0001c0003t0003g0269 a0001c0003t0003g0270 a0001c0003t0007g0152 a0001c0003t0007g0217 a0001c0003t0007g0255 a0001c0003t0007g0261 a0001c0003t0007g0286 a0001c0003t0007g0287 a0001c0003t0007g0326 a0001c0003t0007g0330 a0001c0003t0008g0288 a0001c0003t0009g0318 a0001c0005t0005g0056 a0001c0005t0005g0059 a0001c0005t0010g0058 a0001c0005t0010g0061 a0001c0005t0010g0063 a0001c0005t0014g0209 a0001c0005t0014g0210 a0001c0007t0001g0336 a0001c0007t0012g0321 a0001c0007t0012g0331 a0001c0012t0005g0010 a0001c0012t0005g0011 a0001c0013t0001g0024 a0001c0019t0002g0328 a0001c0020t0002g0128 a0001c0021t0002g0335 a0001c0022t0002g0322 a0001c0023t0003g0268 a0001c0026t0003g0156 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0017 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0047 a0002c0002t0001g0050 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0130 a0002c0002t0001g0132 a0002c0002t0001g0145 a0002c0002t0001g0184 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0205 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0211 a0002c0002t0001g0213 a0002c0002t0001g0216 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0231 a0002c0002t0001g0242 a0002c0002t0001g0244 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0271 a0002c0002t0001g0297 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0004g0006 a0002c0002t0004g0153 a0002c0002t0004g0154 a0002c0002t0004g0155 a0002c0002t0004g0175 a0002c0002t0004g0178 a0002c0002t0004g0181 a0002c0002t0004g0182 a0002c0002t0004g0183 a0002c0002t0004g0186 a0002c0002t0004g0191 a0002c0002t0004g0200 a0002c0002t0004g0201 a0002c0002t0004g0202 a0002c0002t0004g0203 a0002c0002t0004g0214 a0002c0002t0004g0218 a0002c0002t0004g0219 a0002c0002t0004g0221 a0002c0002t0004g0224 a0002c0002t0004g0260 a0002c0002t0017g0222 a0002c0009t0006g0022 a0002c0009t0006g0248 a0002c0009t0006g0249 a0002c0011t0001g0025 a0002c0011t0001g0279 a0002c0024t0001g0020 a0004c0010t0009g0280 a0004c0010t0009g0285 a0004c0016t0009g0078 a0005c0008t0008g0043 a0005c0008t0008g0044 a0005c0008t0008g0046 a0005c0008t0008g0334 a0007c0018t0004g0220	275	350	0.7857	47	c.98+ others(64): Show c.98+10659_98+10660insGGTGGATGGAGGAGCCCCGGGTGAGGGA TGATGGAGGAGTCCCAGAT		PHF2	ENSG00000197724.12	transcript	ENST00000359246.9	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr9	TogoVar
PHF2_chr9_93571584_93684587	93587521	A A	AGTCCCAG others(40): Show AGTCCCAGATGGTGGATGGAGGAGCCCCGGGTGAGGGATGATGGAGGC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG03927.hp1 HG01993.hp2 HG03927.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0225 a0002c0002t0001g0226 a0001c0001t0002g0225 a0002c0002t0001g0226	2	350	0.0057	47	c.98+ others(64): Show c.98+10659_98+10660insGGTGGATGGAGGAGCCCCGGGTGAGGGA TGATGGAGGCGTCCCAGAT		PHF2	ENSG00000197724.12	transcript	ENST00000359246.9	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr9	TogoVar
PHKA1_chrX_72573814_72719306	72681897	G G	GGGGGGTC others(40): Show GGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	237	0.0042	47	c.537 others(64): Show c.537+2600_537+2601insACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCC		PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31						chrX	TogoVar
PHLDB2_chr3_111854265_111981517	111866014	A A	ATTTTTTT others(40): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0210 a0001c0005t0001g0210	1	286	0.0035	47	c.-15 others(64): Show c.-15+6462_-15+6463insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT		PHLDB2	ENSG00000144824.21	transcript	ENST00000431670.7	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
PHRF1_chr11_571470_617222	589968	A A	AATGTCTG others(40): Show AATGTCTGCAAACGGGCATGGAGCGTGCAGGGTTCAGCCTGAGAGGGT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0016 a0016	a0016c0020 a0016c0020	a0016c0020t0009 a0016c0020t0009	a0016c0020t0009g0249 a0016c0020t0009g0249	1	279	0.0036	47	c.421 others(64): Show c.421-1416_421-1415insATGTCTGCAAACGGGCATGGAGCGTGCA GGGTTCAGCCTGAGAGGGT		PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	4/17						chr11	TogoVar
PHTF2_chr7_77793773_77962225	77938557	C C	CGTCTCTA others(40): Show CGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGAAACCCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0307 a0001c0001t0003g0307	1	314	0.0032	47	c.136 others(64): Show c.1365+743_1365+789dupATTAGCCAGGCGTGGTGAAACCCTGTCT CTACTAAAAATACAAAAAA		PHTF2	ENSG00000006576.17	transcript	ENST00000422959.8	protein_coding	12/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
PIAS4_chr19_4002736_4044386	4012007	T T	TGTGGGGT others(40): Show TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02280.hp2 others(18): Show HG02145.hp1 HG02145.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02615.hp2 HG02630.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0004 a0001c0004t0008 others(2): Show a0001c0004t0003 a0001c0004t0004 a0001c0004t0008 a0001c0004t0011 a0001c0004t0012	a0001c0004t0003g0005 a0001c0004t0003g0246 a0001c0004t0003g0250 others(15): Show a0001c0004t0003g0005 a0001c0004t0003g0246 a0001c0004t0003g0250 a0001c0004t0003g0251 a0001c0004t0003g0252 a0001c0004t0003g0253 a0001c0004t0003g0254 a0001c0004t0003g0255 a0001c0004t0003g0256 a0001c0004t0003g0257 a0001c0004t0003g0258 a0001c0004t0003g0259 a0001c0004t0003g0301 a0001c0004t0004g0248 a0001c0004t0004g0249 a0001c0004t0008g0300 a0001c0004t0011g0004 a0001c0004t0012g0004	21	334	0.0629	47	c.28- others(60): Show c.28-913_28-912insGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTG		PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr19	TogoVar
PID1_chr2_229018973_229276287	229184803	G G	GTATATAT others(40): Show GTATATATATCCCGTATATATATATATCCCGTATATATATATCCCGTA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02965.hp2 HG03579.hp1 others(1): Show HG01192.hp1 HG02965.hp2 HG03579.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0010 a0001c0001t0002g0100 a0001c0001t0002g0174 others(1): Show a0001c0001t0001g0010 a0001c0001t0002g0100 a0001c0001t0002g0174 a0001c0001t0002g0184	4	256	0.0156	47	c.31- others(64): Show c.31-28840_31-28839insTACGGGATATATATATACGGGATATATA TATATACGGGATATATATA		PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	1/2						chr2	TogoVar
PIEZO2_chr18_10665247_11154569	10886487	C C	CATATATA others(40): Show CATATATATATATAATGTGTGTATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA20805.hp1 HG03017.hp2 NA20805.hp1	a0001 a0012 a0001 a0012	a0001c0088 a0012c0079 a0001c0088 a0012c0079	a0001c0088t0001 a0012c0079t0002 a0001c0088t0001 a0012c0079t0002	a0001c0088t0001g0130 a0012c0079t0002g0122 a0001c0088t0001g0130 a0012c0079t0002g0122	2	158	0.0127	47	c.330 others(66): Show c.330-15073_330-15072insATATATATATATATATATATATATAT ACACACATTATATATATATAT		PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55						chr18	TogoVar
PIGU_chr20_34555542_34682092	34623256	A A	AACAAGTG others(40): Show AACAAGTGAGACTGCCCAGGAGGAGGAGGAGATCCTGGGGGCAGGGCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA19240.hp1 HG02615.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0282 a0001c0001t0001g0262 a0001c0001t0001g0282	2	320	0.0063	47	c.530 others(64): Show c.530-7164_530-7118dupGGCCCTGCCCCCAGGATCTCCTCCTCCT CCTGGGCAGTCTCACTTGT		PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	6/11						chr20	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(40): Show AAAAAAAAAAATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	384	0.0026	47	c.18 others(56): Show c.185_*186insATATATATATATATATATATATATATATATATATAT ATTTTTTTTTT		PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding					112		chr11	TogoVar
PIWIL2_chr8_22270316_22362568	22290974	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0009	1	296	0.0034	47	c.118 others(64): Show c.1181+629_1181+630insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTT		PIWIL2	ENSG00000197181.12	transcript	ENST00000356766.11	protein_coding	10/22					INFO_REALIGN_3_PRIME	chr8	TogoVar

Search by Variant

Search

Search Results (Total: 1792 hits)