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 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
PSPC1_chr13_19697500_19787945	19779527	C C	CGGCCAGC others(42): Show CGGCCAGCCGCCCCATCCCGGAGGGAGGTGGGGGGGTCAGCCCCCCGCAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp2 HG00673.hp2 others(33): Show HG00323.hp2 HG00621.hp2 HG00673.hp2 HG01175.hp2 HG01256.hp1 HG01433.hp1 HG01496.hp2 HG02040.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp1 HG03195.hp1 HG03225.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 NA18940.hp2 NA18982.hp1 NA18987.hp2 NA18995.hp2 NA19000.hp1 NA19007.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp2 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0002t0003	a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0004 others(32): Show a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0028 a0001c0001t0003g0031 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0008g0013 a0001c0001t0009g0012 a0001c0001t0010g0030 a0001c0001t0012g0033 a0001c0002t0003g0032	36	258	0.1395	49	c.372 others(66): Show c.372+2858_372+2859insATGCGGGGGGCTGACCCCCCCACCTCCC TCCGGGATGGGGCGGCTGGCC	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8			chr13	TogoVar
PSPC1_chr13_19697500_19787945	19779527	C C	CGGCCAGC others(42): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG06807.hp1 NA18522.hp1 others(1): Show HG02717.hp2 HG06807.hp1 NA18522.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 others(1): Show a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0110	4	258	0.0155	49	c.372 others(66): Show c.372+2858_372+2859insATGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCC	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8			chr13	TogoVar
PSPC1_chr13_19697500_19787945	19779527	C C	CGGCCAGC others(42): Show CGGCCAGCCGCCCCGTCCTGGAGGGAGGTGGGGGGGTCAGCCCCCCGCAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	258	0.0039	49	c.372 others(66): Show c.372+2858_372+2859insATGCGGGGGGCTGACCCCCCCACCTCCC TCCAGGACGGGGCGGCTGGCC	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8			chr13	TogoVar
PSPC1_chr13_19697500_19787945	19779545	C C	CGGAGGGA others(42): Show CGGAGGGAGGTGGGGGGGTCAGCCCCCCGCATGGCCAGCCGCCCCGTCCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(177): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18961.hp1 NA18961.hp2 NA18969.hp1 NA18969.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA19000.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp2 NA19084.hp1 NA19086.hp2 NA19088.hp1 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013	a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 others(177): Show a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0074 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0120 a0001c0001t0005g0040 a0001c0001t0005g0041 a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0001t0006g0059 a0001c0001t0006g0060 a0001c0001t0006g0061 a0001c0001t0007g0138 a0001c0001t0013g0121	180	258	0.6977	49	c.372 others(66): Show c.372+2840_372+2841insCGGACGGGGCGGCTGGCCATGCGGGGGG CTGACCCCCCCACCTCCCTCC	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8			chr13	TogoVar
PSPC1_chr13_19697500_19787945	19779545	C C	CGGAGGGA others(42): Show CGGAGGGAGGTTGGGGGGTCAGCCCCCCGCATGGCCAGCCGCCCCGTCCG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	258	0.0039	49	c.372 others(66): Show c.372+2840_372+2841insCGGACGGGGCGGCTGGCCATGCGGGGGG CTGACCCCCCAACCTCCCTCC	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8			chr13	TogoVar
PSPC1_chr13_19697500_19787945	19779562	G G	GTCAGCCC others(42): Show GTCAGCCCCCCGCATGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	258	0.0039	49	c.372 others(66): Show c.372+2823_372+2824insACCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCATGCGGGGGGCTGA	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8			chr13	TogoVar
PTBP1_chr19_792452_817312	800135	T T	TTCGAACA others(42): Show TTCGAACATTGTTGGCCAGGCTGGTCTGGAACACAGGTGATGCACCCCCC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0075 a0001c0001t0015g0075	1	388	0.0026	49	c.39+ others(62): Show c.39+692_39+693insTCGAACATTGTTGGCCAGGCTGGTCTGGAACA CAGGTGATGCACCCCCC	PTBP1	ENSG00000011304.22	transcript	ENST00000356948.11	protein_coding	2/14			chr19	TogoVar
PTDSS2_chr11_445279_496399	485862	C C	CGGGCGCG others(42): Show CGGGCGCGCGTGTGCTCACCGTGCGCGCAGGCGAGCGTAAACAGTGCACG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0128 a0001c0002t0001g0128	1	346	0.0029	49	c.436 others(66): Show c.436-1074_436-1026dupGCGCGCGTGTGCTCACCGTGCGCGCAGG CGAGCGTAAACAGTGCACGGG	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTPN12_chr7_77532295_77645069	77533807	A A	ACGCCGCC others(42): Show ACGCCGCCACCTCCCTCCCGGACGGGCGGCTGGCCGGGCAGGGGGCTGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 NA19082.hp1 HG04199.hp2 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0044 a0002c0002t0001g0061 a0002c0002t0001g0044 a0002c0002t0001g0061	2	310	0.0065	49	c.-37 others(60): Show c.-3740_-3739insCGCCGCCACCTCCCTCCCGGACGGGCGGCTGGCC GGGCAGGGGGCTGAC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding		3487		chr7	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	370	0.0027	49	c.859 others(66): Show c.859-5436_859-5435insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	370	0.0027	49	c.859 others(66): Show c.859-5436_859-5435insATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN4_chr2_119754922_119989899	119844099	A A	AGGGCTCA others(42): Show AGGGCTCATCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCAGGCGGG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01978.hp2 HG02055.hp2 others(2): Show HG01192.hp1 HG01978.hp2 HG02055.hp2 HG02148.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0209 a0001c0001t0002g0224 others(2): Show a0001c0001t0002g0173 a0001c0001t0002g0209 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0231	5	252	0.0198	49	c.139 others(68): Show c.139-18432_139-18431insCATCCCCCCACCTCCCTCCCAGACGG GGCGGCTGGCCAGGCGGGGGGCT	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119844099	A A	AGGGCTCA others(42): Show AGGGCTCATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00639.hp1 others(54): Show HG00323.hp2 HG00544.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp1 HG01175.hp1 HG01192.hp2 HG01257.hp2 HG01261.hp2 HG01884.hp2 HG02056.hp2 HG02080.hp2 HG02132.hp2 HG02165.hp1 HG02257.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03834.hp1 HG04115.hp2 NA18612.hp1 NA18946.hp1 NA18972.hp1 NA18977.hp1 NA19030.hp1 NA19070.hp1 NA19085.hp2 NA20129.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0006 a0004c0009 others(1): Show a0001c0001 a0001c0006 a0004c0009 a0005c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(21): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0044 a0001c0001t0050 a0001c0001t0055 a0001c0001t0056 a0001c0006t0003 a0004c0009t0001 a0005c0008t0005	a0001c0001t0001g0027 a0001c0001t0001g0056 a0001c0001t0001g0095 others(54): Show a0001c0001t0001g0027 a0001c0001t0001g0056 a0001c0001t0001g0095 a0001c0001t0001g0111 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0143 a0001c0001t0001g0158 a0001c0001t0001g0252 a0001c0001t0003g0031 a0001c0001t0003g0099 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0142 a0001c0001t0005g0019 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0036 a0001c0001t0005g0038 a0001c0001t0005g0039 a0001c0001t0008g0008 a0001c0001t0008g0009 a0001c0001t0008g0010 a0001c0001t0008g0013 a0001c0001t0008g0014 a0001c0001t0009g0114 a0001c0001t0009g0115 a0001c0001t0009g0150 a0001c0001t0009g0151 a0001c0001t0010g0001 a0001c0001t0010g0002 a0001c0001t0010g0003 a0001c0001t0012g0011 a0001c0001t0012g0012 a0001c0001t0012g0015 a0001c0001t0013g0108 a0001c0001t0013g0145 a0001c0001t0013g0146 a0001c0001t0030g0033 a0001c0001t0032g0006 a0001c0001t0033g0007 a0001c0001t0034g0032 a0001c0001t0036g0034 a0001c0001t0037g0018 a0001c0001t0039g0037 a0001c0001t0040g0107 a0001c0001t0041g0141 a0001c0001t0044g0109 a0001c0001t0050g0120 a0001c0001t0055g0070 a0001c0001t0056g0072 a0001c0006t0003g0106 a0004c0009t0001g0110 a0005c0008t0005g0035	57	252	0.2262	49	c.139 others(68): Show c.139-18432_139-18431insCATCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCAGGCGGGGGGCT	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119844099	A A	AGGGCTCA others(42): Show AGGGCTCATCCCCCCACCTCCCTCCCGGACGTGGCGGCTGGCCAGGCGGG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0027 a0002c0003t0027	a0002c0003t0027g0026 a0002c0003t0027g0026	1	252	0.0040	49	c.139 others(68): Show c.139-18432_139-18431insCATCCCCCCACCTCCCTCCCGGACGT GGCGGCTGGCCAGGCGGGGGGCT	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN9_chr15_75458251_75584315	75481798	T T	TGCCCGGC others(42): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0005 a0001c0001t0010g0005	1	326	0.0031	49	c.106 others(68): Show c.1063-1885_1063-1884insGGGGGGCTGACCTCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGC	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
PTPN9_chr15_75458251_75584315	75537753	C C	CAAAAAAA others(42): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	326	0.0031	49	c.64- others(66): Show c.64-10493_64-10492insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTT	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12			chr15	TogoVar
PTPRA_chr20_2868481_3043669	3018858	T T	TCCCCCCA others(42): Show TCCCCCCACCTCCCTCCCGGATGGCGCGGCTGGCCGGGGTGGGGGGCTGA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0174 a0001c0004t0004g0174	1	356	0.0028	49	c.104 others(66): Show c.1041+965_1041+966insTGGCGCGGCTGGCCGGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGA	PTPRA	ENSG00000132670.21	transcript	ENST00000399903.7	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPRK_chr6_127963785_128525599	128445206	A A	ATATATAT others(42): Show ATATATATATATATAATTTATATATAATAGTATAAATACTATATATAATT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02647.hp2 HG03209.hp2 HG02559.hp1 HG02647.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0003t0002 a0001c0005t0003 a0001c0001t0001 a0001c0003t0002 a0001c0005t0003	a0001c0001t0001g0030 a0001c0003t0002g0032 a0001c0005t0003g0036 a0001c0001t0001g0030 a0001c0003t0002g0032 a0001c0005t0003g0036	3	53	0.0566	49	c.101 others(68): Show c.101-47567_101-47519dupAATTATATATAGTATTTATACTATTA TATATAAATTATATATATATATA	PTPRK	ENSG00000152894.15	transcript	ENST00000368226.9	protein_coding	1/29			chr6	TogoVar
PTPRT_chr20_42067756_43194906	42633972	A A	AATATATA others(42): Show AATATATATATAATATTATATATAATATATTATAATATATATATAATATT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03540.hp1 NA19240.hp2 HG02886.hp1 HG03540.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0006 a0001c0003 a0003c0006	a0001c0003t0001 a0001c0003t0029 a0003c0006t0008 a0001c0003t0001 a0001c0003t0029 a0003c0006t0008	a0001c0003t0001g0038 a0001c0003t0029g0048 a0003c0006t0008g0054 a0001c0003t0001g0038 a0001c0003t0029g0048 a0003c0006t0008g0054	3	62	0.0484	49	c.115 others(70): Show c.1153+43893_1153+43894insAATATTATATATATATTATAATAT ATTATATATAATATTATATATATAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30			chr20	TogoVar
PXDNL_chr8_51314577_51814445	51534763	G G	GCCCGGCC others(42): Show GCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp2 HG02818.hp2 others(4): Show HG02559.hp2 HG02615.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG03209.hp2	a0004 a0006 a0022 others(1): Show a0004 a0006 a0022 a0034	a0004c0041 a0006c0006 a0022c0042 others(1): Show a0004c0041 a0006c0006 a0022c0042 a0034c0019	a0004c0041t0001 a0006c0006t0001 a0022c0042t0001 others(1): Show a0004c0041t0001 a0006c0006t0001 a0022c0042t0001 a0034c0019t0001	a0004c0041t0001g0057 a0006c0006t0001g0042 a0006c0006t0001g0043 others(4): Show a0004c0041t0001g0057 a0006c0006t0001g0042 a0006c0006t0001g0043 a0006c0006t0001g0045 a0006c0006t0001g0046 a0022c0042t0001g0044 a0034c0019t0001g0090	7	122	0.0574	49	c.380 others(68): Show c.380+22076_380+22077insTGGGGGGCTGATCCCCCCACCTCCCT CCCGGACTGGGCGGCTGGCCGGG	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	4/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51534766	C C	CGGCCAGC others(42): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0080 a0003c0003t0001g0080	1	122	0.0082	49	c.380 others(68): Show c.380+22073_380+22074insAGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCC	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	4/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51534815	C C	TGGCCAGC others(42): Show TGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCC	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18966.hp1 NA18947.hp2 NA18966.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0028 a0003c0003 a0005c0028	a0003c0003t0001 a0005c0028t0001 a0003c0003t0001 a0005c0028t0001	a0003c0003t0001g0081 a0005c0028t0001g0083 a0003c0003t0001g0081 a0005c0028t0001g0083	2	122	0.0164	49	c.380 others(68): Show c.380+22025_380+22026insGGCGGGGGGCTGATCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCA	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	4/22			chr8	TogoVar
PXDN_chr2_1626887_1749515	1635000	T T	TGGGACAG others(42): Show TGGGACAGGGCCAGTGGTGGGCAGGTCAGTGTTTACCCACCAGCTCTGCA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02717.hp2 HG02809.hp1 HG02647.hp1 HG02717.hp2 HG02809.hp1	a0001 a0001	a0001c0006 a0001c0014 a0001c0006 a0001c0014	a0001c0006t0013 a0001c0014t0013 a0001c0006t0013 a0001c0014t0013	a0001c0006t0013g0310 a0001c0014t0013g0145 a0001c0014t0013g0248 a0001c0006t0013g0310 a0001c0014t0013g0145 a0001c0014t0013g0248	3	322	0.0093	49	c.432 others(66): Show c.4320+359_4320+407dupTGCAGAGCTGGTGGGTAAACACTGACCT GCCCACCACTGGCCCTGTCCC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	22/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1710746	A A	ACTCTCCA others(42): Show ACTCTCCACCAGCACCCGCTCTACCAGCACCCACTCTATGAACACCCACT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0103 a0001c0002t0003g0103	1	322	0.0031	49	c.201 others(68): Show c.201-17613_201-17612insAGTGGGTGTTCATAGAGTGGGTGCTG GTAGAGCGGGTGCTGGTGGAGAG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1710855	A A	ACTCTCCA others(42): Show ACTCTCCACCAGCACCCACTCTATGAACACCCGCTCCACCAGTACCCACT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0020 a0008c0025t0020	a0008c0025t0020g0172 a0008c0025t0020g0172	1	322	0.0031	49	c.201 others(68): Show c.201-17722_201-17721insAGTGGGTACTGGTGGAGCGGGTGTTC ATAGAGTGGGTGCTGGTGGAGAG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1710943	A A	ACACCCGC others(42): Show ACACCCGCTCCACCAGTACCCACTCTCCACCAGCACCCGCTCTCCACCAG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02109.hp1 HG02135.hp1 others(7): Show HG02080.hp2 HG02109.hp1 HG02135.hp1 HG02523.hp1 HG02572.hp2 HG02622.hp2 HG03492.hp2 HG04184.hp1 NA18997.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0045	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0004t0004 a0001c0045t0002	a0001c0001t0001g0070 a0001c0001t0001g0162 a0001c0001t0001g0214 others(7): Show a0001c0001t0001g0070 a0001c0001t0001g0162 a0001c0001t0001g0214 a0001c0001t0002g0030 a0001c0001t0002g0271 a0001c0002t0003g0111 a0001c0002t0003g0112 a0001c0002t0003g0159 a0001c0004t0004g0245 a0001c0045t0002g0119	10	322	0.0311	49	c.201 others(68): Show c.201-17810_201-17809insCTGGTGGAGAGCGGGTGCTGGTGGAG AGTGGGTACTGGTGGAGCGGGTG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1719898	C C	CAGAGAGA others(42): Show CAGAGAGAGAGGGAGGGATGCAGAGAGAGAGGGAGGGGAGGGATGTAGAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00558.hp1 others(53): Show HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00642.hp2 HG00738.hp2 HG01243.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02135.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03491.hp2 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18946.hp1 NA18952.hp2 NA18955.hp1 NA18962.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp2 NA18991.hp1 NA18997.hp1 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19012.hp2 NA19056.hp1 NA19074.hp1 NA19079.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0016 a0001c0026 a0001c0033 a0001c0040 a0013c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0031 a0001c0001t0033 a0001c0002t0003 a0001c0003t0002 a0001c0003t0012 a0001c0008t0002 a0001c0016t0005 a0001c0026t0001 a0001c0033t0001 a0001c0040t0030 a0013c0021t0002	a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0182 others(53): Show a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0222 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0299 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0174 a0001c0001t0002g0192 a0001c0001t0002g0200 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0228 a0001c0001t0002g0249 a0001c0001t0002g0262 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0003g0180 a0001c0001t0003g0196 a0001c0001t0009g0181 a0001c0001t0031g0215 a0001c0001t0033g0185 a0001c0002t0003g0097 a0001c0002t0003g0183 a0001c0002t0003g0187 a0001c0002t0003g0197 a0001c0002t0003g0217 a0001c0002t0003g0296 a0001c0003t0002g0012 a0001c0003t0002g0033 a0001c0003t0002g0317 a0001c0003t0012g0255 a0001c0008t0002g0298 a0001c0016t0005g0001 a0001c0026t0001g0261 a0001c0033t0001g0216 a0001c0040t0030g0088 a0013c0021t0002g0251	56	322	0.1739	49	c.200 others(68): Show c.200+24357_200+24358insCTCTACATCCCTCCCCTCCCTCTCTC TCTGCATCCCTCCCTCTCTCTCT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXMP2_chr12_132682587_132709985	132693994	C C	CCAGTTAG others(42): Show CCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01070.hp1 HG01071.hp1 others(6): Show HG00544.hp2 HG01070.hp1 HG01071.hp1 HG01243.hp2 HG03490.hp1 HG03492.hp2 NA18977.hp1 NA18986.hp2 NA19084.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0008 a0001c0003t0003 a0001c0003t0008	a0001c0003t0003g0042 a0001c0003t0003g0043 a0001c0003t0003g0149 others(4): Show a0001c0003t0003g0042 a0001c0003t0003g0043 a0001c0003t0003g0149 a0001c0003t0003g0150 a0001c0003t0003g0154 a0001c0003t0003g0169 a0001c0003t0008g0155	9	350	0.0257	49	c.237 others(66): Show c.237-1868_237-1867insGCCAGTTAGTTAGTGAGCTCCCTTAGTC AGTTAGTTAGTGAGCTCCCTT	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
PYM1_chr12_55896413_55932894	55905889	T T	TTATATAT others(42): Show TTATATATATCTATTAGATATATATATTATATATATCTATTAGATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	344	0.0029	49	c.38- others(64): Show c.38-2410_38-2409insTATATATCTAATAGATATATATAATATATA TATCTAATAGATATATATA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
QPCT_chr2_37339630_37378322	37347231	C C	CATATATA others(42): Show CATATATATAACATATATATATAACATATATATATAACATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02647.hp2 HG00597.hp1 HG02647.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0002 a0001c0001t0001 a0003c0004t0002	a0001c0001t0001g0214 a0003c0004t0002g0097 a0001c0001t0001g0214 a0003c0004t0002g0097	2	442	0.0045	49	c.120 others(66): Show c.120+2389_120+2390insACATATATATATAACATATATATATAAC ATATATATATATATATATATA	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB1A_chr2_65081854_65135106	65105511	C C	CAAAAAAA others(42): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	340	0.0029	49	c.24- others(62): Show c.24-706_24-705insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	1/5			chr2	TogoVar
RAB20_chr13_110518066_110566722	110530435	G G	GCCCCGGG others(42): Show GCCCCGGGGAGGCAGGTCCCACCCGCCCCCACCTCTACACAGACACAGGA	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0054 a0001c0002t0002g0054	1	426	0.0024	49	c.173 others(66): Show c.173-6239_173-6238insTCCTGTGTCTGTGTAGAGGTGGGGGCGG GTGGGACCTGCCTCCCCGGGG	RAB20	ENSG00000139832.5	transcript	ENST00000267328.5	protein_coding	1/1			chr13	TogoVar
RAB7A_chr3_128721183_128819798	128795751	C C	CTTTTTTT others(42): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	314	0.0032	49	c.53+ others(62): Show c.53+348_53+349insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT	RAB7A	ENSG00000075785.14	transcript	ENST00000265062.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RABGAP1L_chr1_174154520_175000308	174349403	G G	GGGGGCTG others(42): Show GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18982.hp2 NA18962.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0039 a0001c0001t0001g0042	2	272	0.0074	49	c.146 others(70): Show c.1466-21545_1466-21544insGGGCGGCTGGCCAGGCGTGGGGCT GACCCCCCCACCTCCCTCCCGGACG	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174833466	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG03710.hp2 HG04199.hp1 others(3): Show HG00673.hp1 HG03710.hp2 HG04199.hp1 NA18957.hp2 NA19009.hp2 NA19064.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0035 a0003c0004t0001 a0001c0001t0001 a0001c0001t0035 a0003c0004t0001	a0001c0001t0001g0015 a0001c0001t0001g0030 a0001c0001t0001g0053 others(3): Show a0001c0001t0001g0015 a0001c0001t0001g0030 a0001c0001t0001g0053 a0001c0001t0001g0069 a0001c0001t0035g0070 a0003c0004t0001g0051	6	272	0.0221	49	c.234 others(70): Show c.2340+21508_2340+21509insTATATATATATATATATATATATA TATATATATATATATATATATATTA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RADIL_chr7_4792055_4888716	4886300	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATACATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0027 a0027	a0027c0052 a0027c0052	a0027c0052t0039 a0027c0052t0039	a0027c0052t0039g0014 a0027c0052t0039g0014	1	292	0.0034	49	c.-27 others(60): Show c.-2770_-2769insAAATATATATATATATGTATATATATATATATAT ATATATATATATATA	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding		2585		chr7	TogoVar
RADIL_chr7_4792055_4888716	4886301	T T	TATATATA others(42): Show TATATATATATATATATATATACATATATACATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0025 a0003c0025	a0003c0025t0030 a0003c0025t0030	a0003c0025t0030g0015 a0003c0025t0030g0015	1	292	0.0034	49	c.-27 others(60): Show c.-2771_-2770insTATATATATATATATATATGTATATATGTATATA TATATATATATATAT	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding		2586		chr7	TogoVar
RAE1_chr20_57346255_57384202	57350857	C C	CGGGGGAC others(42): Show CGGGGGACGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGACGGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	342	0.0029	49	c.-57 others(58): Show c.-573_-572insGGGGGACGGGGGGCGGGGGGGGCGGGGGGGGCGGGG GGGACGGGGGGCG	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding		397		chr20	TogoVar
RAPGEF4_chr2_172730845_173057893	173056623	T T	TGGGGTGG others(42): Show TGGGGTGGGGTAGTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	178	0.0056	49	c.48 others(60): Show c.4856_*4857insGGGGTGGGGTAGTTGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGG	RAPGEF4	ENSG00000091428.18	transcript	ENST00000397081.8	protein_coding		3731		chr2	TogoVar
RASA1_chr5_87262883_87396916	87338535	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	282	0.0036	49	c.101 others(66): Show c.1017+444_1017+445insTATATATATATATATATATATATATATA TATATATATATATATATTTTT	RASA1	ENSG00000145715.15	transcript	ENST00000274376.11	protein_coding	5/24			chr5	TogoVar
RASA3_chr13_113972783_114137623	113995803	T T	TGGGGGGG others(42): Show TGGGGGGGCCCAGCTGATGGGGGCCCTGCTGATGGGGGGCCCGGCTGACG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	67	0.0149	49	c.214 others(66): Show c.2141+727_2141+728insCGTCAGCCGGGCCCCCCATCAGCAGGGC CCCCATCAGCTGGGCCCCCCC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	21/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114021012	A A	AGCTCAGG others(42): Show AGCTCAGGGTCCCACTTTCGCCCAGGATCAGACCCTGCGAGCTGCTCGCG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02300.hp1 HG01433.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0001t0006g0011 a0001c0001t0006g0012	2	67	0.0299	49	c.785 others(64): Show c.785+343_785+391dupCGCGAGCAGCTCGCAGGGTCTGATCCTGGG CGAAAGTGGGACCCTGAGC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	9/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114044097	C C	CCCCCGCC others(42): Show CCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCCCGCCTCACTCGCTGAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	67	0.0149	49	c.278 others(66): Show c.278-3004_278-3003insCTCAGCGAGTGAGGCGGGGGGGGAGCTC AGCGAGTGAGGCGGGGCGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114070811	C C	CTTACACG others(42): Show CTTACACGTGGGCAGGGCTGCCGGCGTCCACGCTAAACGGCGCCACAGTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00639.hp1 others(30): Show HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01361.hp1 HG01433.hp1 HG01943.hp2 HG01981.hp2 HG02148.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp2 HG02559.hp1 HG02723.hp1 HG02738.hp1 HG03130.hp2 HG03209.hp2 HG03490.hp1 HG03490.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18945.hp1 NA18954.hp1 NA18973.hp2 NA18975.hp2 NA19079.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0010 a0003c0008 a0004c0006	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0001c0007t0002 a0001c0010t0002 a0003c0008t0002 a0004c0006t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(30): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0002t0001g0058 a0001c0002t0002g0004 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0067 a0001c0005t0001g0015 a0001c0005t0001g0016 a0001c0007t0002g0063 a0001c0010t0002g0052 a0003c0008t0002g0006 a0004c0006t0002g0053	33	67	0.4925	49	c.173 others(66): Show c.173+2860_173+2908dupAACTGTGGCGCCGTTTAGCGTGGACGCC GGCAGCCCTGCCCACGTGTAA	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114070969	G G	GCAGGGCT others(42): Show GCAGGGCTGCCGGCGTCCACGCTAAACGGCGCCACAGTTTTACACGTGGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	67	0.0149	49	c.173 others(66): Show c.173+2750_173+2751insTCCACGTGTAAAACTGTGGCGCCGTTTA GCGTGGACGCCGGCAGCCCTG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114099750	C C	CCCCACAG others(42): Show CCCCACAGCCCCCCACAGCCCCCACAGCCCCCACAGCAGCCCCCCCACAG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0006 a0003c0008t0002g0006	1	67	0.0149	49	c.56- others(66): Show c.56-25914_56-25913insCTGTGGGGGGGCTGCTGTGGGGGCTGTG GGGGCTGTGGGGGGCTGTGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114099856	G G	GCCCCCCA others(42): Show GCCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0026 a0001c0002t0002g0026	1	67	0.0149	49	c.56- others(66): Show c.56-26020_56-26019insGCTGTGGGGGGGCTGCTGTGGGGGGCTG TGGGGGGGCTGCTGTGGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RBBP8_chr18_22928328_23031486	23022602	A A	AAAAATAA others(42): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0302 a0001c0004t0004g0302	1	330	0.0030	49	c.259 others(66): Show c.2596+370_2596+371insATAAAATAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAA	RBBP8	ENSG00000101773.19	transcript	ENST00000327155.10	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr18	TogoVar
RBFOX1_chr16_6014024_7718340	7022030	T T	TCCCCCTC others(42): Show TCCCCCTCCCCTTCCCCCTCCCCTTCCCCCTCCCCTTCCCCCTCCCCTTC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03098.hp2 HG03209.hp2 others(2): Show HG02976.hp1 HG03098.hp2 HG03209.hp2 HG03453.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 others(2): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0019 a0001c0002t0028	a0001c0001t0008g0034 a0001c0001t0009g0036 a0001c0001t0011g0035 others(2): Show a0001c0001t0008g0034 a0001c0001t0009g0036 a0001c0001t0011g0035 a0001c0001t0019g0055 a0001c0002t0028g0031	5	68	0.0735	49	c.-15 others(68): Show c.-15-30023_-15-30022insCTCCCCTTCCCCCTCCCCTTCCCCCT CCCCTTCCCCCTCCCCTTCCCCC	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79611130	T T	TCTCTCTC others(42): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 NA18970.hp1 HG03098.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0067 a0001c0001t0003g0035 a0001c0001t0001g0067 a0001c0001t0003g0035	2	154	0.0130	49	c.-62 others(58): Show c.-625_-624insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		80		chr17	TogoVar

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Search Results (Total: 2057 hits)