Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	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
PLPP2_chr19_276043_296403	282391	ACCTGCCA others(88): Show ACCTGCCAGGCGCTCCCCCTCCCCCTGCACAGACGTGTTAGCCTGTGCAC CTGCCAGGCGCTCCCCCTCCCCCTGCACAGACGTGTTAGCCTTGCG	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02132.hp2 HG03654.hp2 HG01978.hp2 HG02132.hp2 HG03654.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0099 a0001c0001t0001g0107 a0002c0002t0001g0160 a0001c0001t0001g0099 a0001c0001t0001g0107 a0002c0002t0001g0160	3	354	0.0085	-95	c.541 others(109): Show c.541-176_541-82delCGCAAGGCTAACACGTCTGTGCAGGGGGAGG GGGAGCGCCTGGCAGGTGCACAGGCTAACACGTCTGTGCAGGGGGAGGGG GAGCGCCTGGCAGG		PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding	4/5						chr19	TogoVar
PLVAP_chr19_17346455_17382342	17349149	TCTTTCTT others(88): Show TCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 NA18992.hp2 HG03942.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0194 a0001c0001t0002g0123 a0001c0001t0001g0194 a0001c0001t0002g0123	2	436	0.0046	-95	c.31 others(106): Show c.3118_*3212delGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA AAGAAAGAAAG		PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding					2305		chr19	TogoVar
PLXNA4_chr7_132118340_132581470	132132442	GTTCTGTT others(88): Show GTTCTGTTCTGTTCTGTTCTGTTCTGCTCTGCTCTGCTCTGCTCTGCTCT ATTCTTTTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18906.hp1 NA18906.hp2 HG01081.hp2 NA18906.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0030 a0001c0034 a0001c0001 a0001c0030 a0001c0034	a0001c0001t0016 a0001c0030t0017 a0001c0034t0006 a0001c0001t0016 a0001c0030t0017 a0001c0034t0006	a0001c0001t0016g0047 a0001c0030t0017g0065 a0001c0034t0006g0082 a0001c0001t0016g0047 a0001c0030t0017g0065 a0001c0034t0006g0082	3	88	0.0341	-95	c.558 others(112): Show c.5589+512_5589+606delTAGAATAGAATAGAATAGAATAGAATAG AATAGAATAGAAAAGAATAGAGCAGAGCAGAGCAGAGCAGAGCAGAACAG AACAGAACAGAACAGAA		PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	31/31						chr7	TogoVar
PRDM16_chr1_3064203_3443621	3287506	CCCCGCCA others(88): Show CCCCGCCACGCGGGCATCCAGGATTGCATTTACCGGGGCTGGAGCCGCCC CCTGCCACGCGGGCATCCAGGATTGCATTTACCGGGGCTGGAGCTG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03130.hp1 HG02615.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0021 a0001c0001 a0001c0021	a0001c0001t0001 a0001c0021t0049 a0001c0001t0001 a0001c0021t0049	a0001c0001t0001g0006 a0001c0021t0049g0023 a0001c0001t0001g0006 a0001c0021t0049g0023	2	210	0.0095	-95	c.438 others(114): Show c.438+43373_438+43467delGCCACGCGGGCATCCAGGATTGCATT TACCGGGGCTGGAGCCGCCCCCTGCCACGCGGGCATCCAGGATTGCATTT ACCGGGGCTGGAGCTGCCC		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2110021	TCGGGGCC others(88): Show TCGGGGCCCTCCCTGGGGGCAGCCAAGGACCTAAAACCAATGGGTCCCAA CCAAGAGGATCCCAGAGGTGAGACACAGAACGGCCAGGGCTGAATC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(229): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18961.hp2 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18983.hp1 NA18993.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0008 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0010 a0001c0003t0014 a0001c0003t0018 a0001c0006t0001 a0002c0008t0001 a0003c0005t0016	a0001c0001t0001g0003 a0001c0001t0001g0048 a0001c0001t0001g0049 others(229): Show a0001c0001t0001g0003 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0277 a0001c0001t0002g0002 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0004g0063 a0001c0001t0004g0079 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0006g0016 a0001c0001t0008g0241 a0001c0001t0012g0058 a0001c0001t0015g0014 a0001c0001t0017g0019 a0001c0002t0001g0013 a0001c0002t0001g0070 a0001c0002t0001g0087 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0100 a0001c0002t0001g0103 a0001c0002t0001g0148 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0166 a0001c0002t0001g0197 a0001c0002t0001g0203 a0001c0002t0001g0205 a0001c0002t0001g0207 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0233 a0001c0002t0001g0238 a0001c0002t0001g0243 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0267 a0001c0002t0001g0271 a0001c0002t0001g0276 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0035 a0001c0002t0002g0041 a0001c0002t0004g0149 a0001c0002t0004g0215 a0001c0003t0001g0001 a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0059 a0001c0003t0001g0062 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0084 a0001c0003t0001g0088 a0001c0003t0001g0109 a0001c0003t0001g0110 a0001c0003t0001g0111 a0001c0003t0001g0114 a0001c0003t0001g0115 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0128 a0001c0003t0001g0130 a0001c0003t0001g0132 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0138 a0001c0003t0001g0139 a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0147 a0001c0003t0001g0155 a0001c0003t0001g0194 a0001c0003t0001g0196 a0001c0003t0001g0227 a0001c0003t0001g0250 a0001c0003t0001g0255 a0001c0003t0001g0258 a0001c0003t0001g0259 a0001c0003t0001g0262 a0001c0003t0001g0263 a0001c0003t0001g0264 a0001c0003t0001g0266 a0001c0003t0001g0273 a0001c0003t0001g0274 a0001c0003t0001g0275 a0001c0003t0001g0283 a0001c0003t0002g0020 a0001c0003t0002g0021 a0001c0003t0003g0184 a0001c0003t0003g0185 a0001c0003t0003g0186 a0001c0003t0003g0187 a0001c0003t0003g0188 a0001c0003t0003g0189 a0001c0003t0003g0190 a0001c0003t0003g0191 a0001c0003t0003g0192 a0001c0003t0003g0193 a0001c0003t0003g0198 a0001c0003t0003g0199 a0001c0003t0003g0200 a0001c0003t0003g0212 a0001c0003t0003g0231 a0001c0003t0003g0232 a0001c0003t0004g0129 a0001c0003t0004g0156 a0001c0003t0010g0195 a0001c0003t0014g0117 a0001c0003t0018g0265 a0001c0006t0001g0131 a0002c0008t0001g0282 a0003c0005t0016g0180	232	286	0.8112	-95	c.335 others(114): Show c.335-25073_335-24979delCACAGAACGGCCAGGGCTGAATCCGG GGCCCTCCCTGGGGGCAGCCAAGGACCTAAAACCAATGGGTCCCAACCAA GAGGATCCCAGAGGTGAGA		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PSMG1_chr21_39169769_39188451	39186746	CTTGCATT others(88): Show CTTGCATTCTGGAAAGGAATAGTAGTCTTATAGCAGGCCATTTGTCTTTT CTTTCCACCTCTCCACCTACAGACTCTGCAATTTATTTCCTCCTCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	392	0.0026	-95	c.-34 others(106): Show c.-3456_-3362delTGAGGAGGAAATAAATTGCAGAGTCTGTAGGTGG AGAGGTGGAAAGAAAAGACAAATGGCCTGCTATAAGACTACTATTCCTTT CCAGAATGCAA		PSMG1	ENSG00000183527.12	transcript	ENST00000331573.8	protein_coding					3296		chr21	TogoVar
PTPN9_chr15_75458251_75584315	75504080	GGGGATCA others(88): Show GGGGATCAGCACCCCGCCCGGACAGCCGCCCCGTCCGGGAGGGAGGTGGG GAGGTCAGCCCCCCGCCCGGACAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0245	1	326	0.0031	-95	c.968 others(112): Show c.968+1500_968+1594delACCTCCCTCCCGGACGGGGCGGCTGTCC GGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCG GGCGGGGTGCTGATCCC		PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	7/12						chr15	TogoVar
PTPRT_chr20_42067756_43194906	42633975	ATATTATA others(88): Show ATATTATATATTATATTATATATATTATATATATATAATATATATATAAT ATATATATTATATATATTATATATATATTATAAATATATAATATAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp1 HG02109.hp1 others(6): Show HG00438.hp1 HG00741.hp1 HG02109.hp1 HG02965.hp2 HG03195.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0002 a0001c0003 a0001c0007 others(5): Show a0001c0002 a0001c0003 a0001c0007 a0001c0018 a0002c0001 a0002c0013 a0004c0024 a0009c0017	a0001c0002t0002 a0001c0002t0003 a0001c0003t0020 others(6): Show a0001c0002t0002 a0001c0002t0003 a0001c0003t0020 a0001c0007t0001 a0001c0018t0003 a0002c0001t0026 a0002c0013t0001 a0004c0024t0005 a0009c0017t0017	a0001c0002t0002g0058 a0001c0002t0003g0040 a0001c0003t0020g0047 others(6): Show a0001c0002t0002g0058 a0001c0002t0003g0040 a0001c0003t0020g0047 a0001c0007t0001g0061 a0001c0018t0003g0030 a0002c0001t0026g0012 a0002c0013t0001g0016 a0004c0024t0005g0032 a0009c0017t0017g0022	9	62	0.1452	-95	c.115 others(116): Show c.1153+43796_1153+43890delATATATTATATATTTATAATATAT ATATAATATATATAATATATATATTATATATATATTATATATATATAATA TATATAATATAATATATAATA		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30						chr20	TogoVar
PUM1_chr1_30926506_31070717	30972264	AAAAGAAG others(88): Show AAAAGAAGGGAAGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	334	0.0030	-95	c.150 others(114): Show c.1506+2292_1506+2386delCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTT CCCTTCCCTTCCCTTCTTT		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21						chr1	TogoVar
PUM1_chr1_30926506_31070717	30972274	AAGGGAAG others(88): Show AAGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0329 a0001c0001t0006g0329	1	334	0.0030	-95	c.150 others(114): Show c.1506+2282_1506+2376delCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTTCCCTTCCCT		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21						chr1	TogoVar
PUM1_chr1_30926506_31070717	30972372	GGGAGGGG others(88): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGAAGAGAAGAGAAGAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03654.hp1 NA19057.hp1 HG02165.hp1 HG03654.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0058 a0001c0001t0005g0115 a0001c0001t0005g0184 a0001c0001t0005g0058 a0001c0001t0005g0115 a0001c0001t0005g0184	3	334	0.0090	-95	c.150 others(114): Show c.1506+2184_1506+2278delTCTTCTCTTCTCTTCTCTTCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCC		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21						chr1	TogoVar
RAB11FIP3_chr16_420649_528011	524773	GCTGGACC others(88): Show GCTGGACCCCCTCAGCGGCCCCCCGGATGTGGGTGCAGAGCCCCTCACAT GAGGACCGCCCCAGCCTGCCTCTGCTGAAGGGCAGGTATAGGAAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0039 a0001c0014t0039	a0001c0014t0039g0112 a0001c0014t0039g0112	1	295	0.0034	-95	c.39 others(106): Show c.3935_*4029delCTGGACCCCCTCAGCGGCCCCCCGGATGTGGGTG CAGAGCCCCTCACATGAGGACCGCCCCAGCCTGCCTCTGCTGAAGGGCAG GTATAGGAAGT		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding					1763		chr16	TogoVar
RAB22A_chr20_58304715_58372507	58309442	AGGCGGGA others(88): Show AGGCGGGACCGGCAGGGGCGGGGCCCTGCAGACAGGGGCGGGGCCCTGCA GACAGGGGCGGGGCCCTGCAGACAGGGGCGGGGCCCTGCAGACAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0125 a0001c0001t0033g0126 a0001c0001t0033g0125 a0001c0001t0033g0126	2	394	0.0051	-95	c.-53 others(104): Show c.-534_-440delGGCGGGACCGGCAGGGGCGGGGCCCTGCAGACAGGG GCGGGGCCCTGCAGACAGGGGCGGGGCCCTGCAGACAGGGGCGGGGCCCT GCAGACAGG		RAB22A	ENSG00000124209.4	transcript	ENST00000244040.4	protein_coding					272		chr20	TogoVar
RAB3B_chr1_51902956_51995700	51903847	TACTAGGC others(88): Show TACTAGGCAGAAGTACAATGTAGAGGTTAAGGGTGGAAACTCTGGGAGTT CAATCCCAGCTGTGTGTTTACTAACTGTATCACCTTAGGCTGATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0043 a0001c0003t0043	a0001c0003t0043g0060 a0001c0003t0043g0060	1	62	0.0161	-95	c.15 others(108): Show c.15985_*16079delTAATCAGCCTAAGGTGATACAGTTAGTAAACA CACAGCTGGGATTGAACTCCCAGAGTTTCCACCCTTAACCTCTACATTGT ACTTCTGCCTAGT		RAB3B	ENSG00000169213.7	transcript	ENST00000371655.4	protein_coding					4108		chr1	TogoVar
RASGEF1C_chr5_180095795_180214211	180113344	GGGGATGG others(88): Show GGGGATGGACTGAGGGATCCGGGATGGACGGAGGGACCGGGGATGGACGG AGGGACCGGGGATGGACGGAGGGATCGGGGATGGATGGAGGGATCC	G G	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0167 a0001c0001t0007g0167	1	370	0.0027	-95	c.117 others(114): Show c.1179+1007_1179+1101delGGATCCCTCCATCCATCCCCGATCCC TCCGTCCATCCCCGGTCCCTCCGTCCATCCCCGGTCCCTCCGTCCATCCC GGATCCCTCAGTCCATCCC		RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	11/13						chr5	TogoVar
RASSF4_chr10_44954802_45000891	44955041	GAAGGAAG others(88): Show GAAGGAAGGAAGGAAGGAAGGGGATGGAAGGAAGGCAAGCAAGCAGGGAG GGAGGGAGGGAAAGAGGAAGGAAGGAAGGAGAGAGAGAGAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 NA19009.hp1 HG02132.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0199 a0001c0001t0002g0028 a0001c0001t0002g0199	2	396	0.0051	-95	c.-48 others(106): Show c.-4863_-4769delAAGGAAGGAAGGAAGGAAGGGGATGGAAGGAAGG CAAGCAAGCAGGGAGGGAGGGAGGGAAAGAGGAAGGAAGGAAGGAGAGAG AGAGAGAAAGA		RASSF4	ENSG00000107551.21	transcript	ENST00000340258.10	protein_coding					4760		chr10	TogoVar
RGS20_chr8_53846795_53964303	53948615	TGATACAG others(88): Show TGATACAGTACATATTTACATATGCTATATATAAGATACAGTACATATTT ACATATGCTATATAAGATACAGTACATATTTACATATGCTATATAA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0119 a0001c0001t0005g0119	1	258	0.0039	-95	c.743 others(112): Show c.743+1898_743+1992delTAAGATACAGTACATATTTACATATGCT ATATAAGATACAGTACATATTTACATATGCTATATAAGATACAGTACATA TTTACATATGCTATATA		RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
RHBDL3_chr17_32260832_32329659	32276880	GGCCCTAG others(88): Show GGCCCTAGCACCTTACTCCGGCCCTAGCACCTTACTCCAGCCCTAGCACC TTACTCCGGCCCTAGCACCTTACTCCAGCCCTAGCACAGTACTGCA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG02647.hp1 others(2): Show HG01891.hp1 HG02258.hp2 HG02647.hp1 HG02886.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0199 others(2): Show a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202	5	306	0.0163	-95	c.136 others(112): Show c.136-7768_136-7674delCTTACTCCGGCCCTAGCACCTTACTCCA GCCCTAGCACCTTACTCCGGCCCTAGCACCTTACTCCAGCCCTAGCACAG TACTGCAGCCCTAGCAC		RHBDL3	ENSG00000141314.13	transcript	ENST00000269051.9	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	334411	GGGACAGG others(88): Show GGGACAGGGACAAGGCAACCACCCCAGCAAGTGCAGCTCCTTCTCCCCAC GCCTTCTCCGAGGGCCAGCCCATCCACTGCGGAGGGACAGGAACAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	133	0.0075	-95	c.-21 others(112): Show c.-212-572_-212-478delTTGTTCCTGTCCCTCCGCAGTGGATGGG CTGGCCCTCGGAGAAGGCGTGGGGAGAAGGAGCTGCACTTGCTGGGGTGG TTGCCTTGTCCCTGTCC		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9						chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665331	CCCTTTCC others(88): Show CCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp1 HG02683.hp1 HG02258.hp1 HG02486.hp1 HG02683.hp1	a0001 a0001	a0001c0015 a0001c0033 a0001c0049 a0001c0015 a0001c0033 a0001c0049	a0001c0015t0046 a0001c0033t0023 a0001c0049t0011 a0001c0015t0046 a0001c0033t0023 a0001c0049t0011	a0001c0015t0046g0079 a0001c0033t0023g0075 a0001c0049t0011g0078 a0001c0015t0046g0079 a0001c0033t0023g0075 a0001c0049t0011g0078	3	196	0.0153	-95	c.348 others(114): Show c.348+21599_348+21693delTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
SARDH_chr9_133658560_133743352	133669108	CCCTCACC others(88): Show CCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCC CTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCATCT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02818.hp2 HG02630.hp1 HG02818.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0001 a0003c0003t0002	a0003c0003t0001g0143 a0003c0003t0002g0256 a0003c0003t0001g0143 a0003c0003t0002g0256	2	262	0.0076	-95	c.249 others(114): Show c.2495+1381_2495+1475delAGATGGAGGGTGAGGGAGAGGGAAGG TGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGAG AGAGAGAGGGAGGGTGAGG		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20						chr9	TogoVar
SBF2_chr11_9773668_10299219	9839670	TTGTGGGG others(88): Show TTGTGGGGAGCTCACTCTCATCTGAAACTGTGATGGTAGAGACAGATATC GAAGAAATGATTAGCTCAAAGCAATTGAGGTCTTCAGGGTAGTACC	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01975.hp2 HG01981.hp2 HG01993.hp1 others(8): Show HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02135.hp2 HG02148.hp1 NA18939.hp1 NA18944.hp2 NA18951.hp2 NA19063.hp1 NA19066.hp1 NA19068.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0009 a0003c0004t0003g0011 a0003c0004t0003g0022 others(8): Show a0003c0004t0003g0009 a0003c0004t0003g0011 a0003c0004t0003g0022 a0003c0004t0003g0026 a0003c0004t0003g0028 a0003c0004t0003g0032 a0003c0004t0003g0052 a0003c0004t0003g0121 a0003c0004t0003g0132 a0003c0004t0003g0138 a0003c0004t0003g0182	11	224	0.0491	-95	c.325 others(107): Show c.3257-69_3282delGGTACTACCCTGAAGACCTCAATTGCTTTGAGC TAATCATTTCTTCGATATCTGTCTCTACCATCACAGTTTCAGATGAGAGT GAGCTCCCCACA	p.Val others(6): Show p.Val1086fs	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	26/40	3432/7450	3257/5550	1086/1849			chr11	TogoVar
SCGB1C2_chr17_132569_144067	136328	TAACCCCT others(88): Show TAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCCCTAACCC CTAACCCTAACCCTAACCCTAACCCTAACCCTAACCCCTACCCCTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp1 others(185): Show HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01934.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02622.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02818.hp1 HG02886.hp1 HG02976.hp1 HG03017.hp2 HG03130.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18987.hp1 NA18988.hp1 NA18989.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp2 NA19072.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0006 a0001c0001 a0007c0006	a0001c0001t0002 a0007c0006t0002 a0001c0001t0002 a0007c0006t0002	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0006 others(7): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0020 a0001c0001t0002g0026 a0001c0001t0002g0028 a0007c0006t0002g0004	188	402	0.4677	-95	c.-12 others(106): Show c.-1262_-1168delAACCCCTAACCCTAACCCTAACCCTAACCCTAAC CCTAACCCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAAC CCCTACCCCTA		SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding					1240		chr17	TogoVar
SCGB1C2_chr17_132569_144067	141382	GGGGGACC others(88): Show GGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACCTGGGGGGGACCTTG GTGAGGGGAGCATGGTGAGGGGAACATGGGTGGGGAGCCTTGGTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	402	0.0025	-95	c.24 others(106): Show c.2441_*2535delGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGAC CTGGGGGGGACCTTGGTGAGGGGAGCATGGTGAGGGGAACATGGGTGGGG AGCCTTGGTGA		SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding					2316		chr17	TogoVar
SCGB2A2_chr11_62265158_62278160	62277921	CCTCTCGC others(88): Show CCTCTCGCTCTCCGTCTCCCTCTCGCTCTCCCTCTCCCCACGGTCTCCCT CTCATGCGGAGCCGAAGCTGGACTGTACTGCTGCCATCTCGGCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG03041.hp2 HG02922.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0058 a0001c0001t0001g0006 a0001c0001t0001g0058	2	390	0.0051	-95	c.49 others(106): Show c.4927_*5021delCTCTCGCTCTCCGTCTCCCTCTCGCTCTCCCTCT CCCCACGGTCTCCCTCTCATGCGGAGCCGAAGCTGGACTGTACTGCTGCC ATCTCGGCTCA		SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding					4762		chr11	TogoVar
SCML4_chr6_107697154_107829313	107726071	AGTCTCAA others(88): Show AGTCTCAAAAAAAAAAAAAAAAAAGACACCATCAAGAAAGTGAAAGGACA ACTCACAAATTGGGGGAAAATACCTGCAAATTATATATTTGATCAG	A A	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	250	0.0040	-95	c.683 others(112): Show c.683-5173_683-5079delCTGATCAAATATATAATTTGCAGGTATT TTCCCCCAATTTGTGAGTTGTCCTTTCACTTTCTTGATGGTGTCTTTTTT TTTTTTTTTTTTGAGAC		SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	5/7						chr6	TogoVar
SCUBE1_chr22_43192280_43348372	43281312	CCTCTTTG others(88): Show CCTCTTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTC CCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG02074.hp1 others(4): Show HG00408.hp2 HG00597.hp2 HG02074.hp1 HG02129.hp1 NA18954.hp1 NA19079.hp2 NA19087.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0059 a0003c0001 a0002c0002 a0002c0059 a0003c0001	a0002c0002t0001 a0002c0002t0002 a0002c0002t0013 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0013 a0002c0002t0061 a0002c0059t0001 a0003c0001t0001	a0002c0002t0001g0205 a0002c0002t0002g0224 a0002c0002t0013g0100 others(4): Show a0002c0002t0001g0205 a0002c0002t0002g0224 a0002c0002t0013g0100 a0002c0002t0061g0176 a0002c0059t0001g0119 a0003c0001t0001g0046 a0003c0001t0001g0196	7	280	0.0250	-95	c.484 others(112): Show c.484+9639_484+9733delAGGTGACAGGATAGCTGAGGAGGAGATG ACAGAAGGGTGGCCAAGGGAGGTGACAGGGTGACTGAGGAGGAGGTGACA GGAGGGTGGCCAAAGAG		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SIGIRR_chr11_400716_419999	401607	ACACCCGG others(88): Show ACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCAC ACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCCGGCCCCGCTCAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG02922.hp2 NA18964.hp1 others(1): Show HG00621.hp1 HG02922.hp2 NA18964.hp1 NA19043.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0001 a0006c0011t0001 a0001c0001t0001 a0006c0011t0001	a0001c0001t0001g0113 a0001c0001t0001g0140 a0001c0001t0001g0207 others(1): Show a0001c0001t0001g0113 a0001c0001t0001g0140 a0001c0001t0001g0207 a0006c0011t0001g0190	4	242	0.0165	-95	c.41 others(106): Show c.4194_*4288delGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGGGTG AGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGC GGGGCCGGGTG		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					4108		chr11	TogoVar
SIGIRR_chr11_400716_419999	401629	GGCCCCGC others(88): Show GGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGCC CCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG03516.hp1 HG02970.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0141 a0001c0001t0001g0142	2	242	0.0083	-95	c.41 others(106): Show c.4172_*4266delTCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCC GGGGGTGAGCGGGGCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGT GTGAGCGGGGC		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					4086		chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1069990	CGCAGCCC others(88): Show CGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCC CCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02055.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0003 a0001c0009t0006 a0001c0003t0003 a0001c0009t0006	a0001c0003t0003g0006 a0001c0009t0006g0064 a0001c0003t0003g0006 a0001c0009t0006g0064	2	118	0.0170	-95	c.224 others(114): Show c.2241+3548_2241+3642delATAAGTGTGATGCCCGTGTGCTGGGG GCTCACTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTG GGGGCTCACTGGGGGCTGC		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070034	CAGCCCCC others(88): Show CAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTT ATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGC	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0023 a0001c0007t0006g0023	1	118	0.0085	-95	c.224 others(114): Show c.2241+3504_2241+3598delGCATAAGTGTGATGCCCGTGTGCTGG GGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCAC TGGGGGCTCACTGGGGGCT		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072013	CGGTATCA others(88): Show CGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCA CACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0064 a0001c0009t0006g0064	1	118	0.0085	-95	c.224 others(114): Show c.2241+1525_2241+1619delCGTGTGCTGGGGGCTCACTGGGGGCT GCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTCACTGGGG GCTGCATAAGTGTGATACC		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SLC13A3_chr20_46552828_46656459	46600313	GGGAAGGA others(88): Show GGGAAGGAAGGAAAGGAAGGAAGGAAGGAAAGGAAAAGAAAGGAAAGGAA AGAAAAGGAAGGGAAAGGAAAGGGAGGGAAAGAAAGAAAGAAAGGA	G G	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA19074.hp2 NA18973.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0017 a0001c0001t0003 a0001c0001t0017	a0001c0001t0003g0075 a0001c0001t0017g0290 a0001c0001t0003g0075 a0001c0001t0017g0290	2	390	0.0051	-95	c.542 others(110): Show c.542-371_542-277delTCCTTTCTTTCTTTCTTTCCCTCCCTTTCC TTTCCCTTCCTTTTCTTTCCTTTCCTTTCTTTTCCTTTCCTTCCTTCCTT CCTTTCCTTCCTTCC		SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding	3/12						chr20	TogoVar
SLC13A3_chr20_46552828_46656459	46643209	GGTTAATA others(88): Show GGTTAATATAGATAATGCACCAGCAGATACATAATTAAAACATAATACGT TGCCAGGTAGTGATAAAGACCGTGAAGAAAAATAAGGCAGAATGGA	G G	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0330 a0001c0002t0001g0330	1	390	0.0026	-95	c.111 others(112): Show c.111+8007_111+8101delTCCATTCTGCCTTATTTTTCTTCACGGT CTTTATCACTACCTGGCAACGTATTATGTTTTAATTATGTATCTGCTGGT GCATTATCTATATTAAC		SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding	1/12						chr20	TogoVar
SLC26A3_chr7_107760469_107808223	107770153	CTTTTTTT others(88): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAAAAAAAAAGGGGTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01168.hp1 HG01358.hp2 others(39): Show HG00140.hp2 HG01168.hp1 HG01358.hp2 HG02145.hp2 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG04115.hp2 NA18945.hp1 NA18954.hp1 NA18964.hp1 NA18967.hp1 NA18968.hp2 NA18972.hp2 NA18973.hp1 NA18991.hp2 NA19070.hp2 NA19079.hp1 NA19085.hp2 NA19087.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0009	a0001c0001 a0005c0006 a0006c0008 others(1): Show a0001c0001 a0005c0006 a0006c0008 a0009c0009	a0001c0001t0001 a0001c0001t0002 a0005c0006t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0005c0006t0001 a0006c0008t0001 a0009c0009t0001	a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0079 others(36): Show a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0108 a0001c0001t0001g0124 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0161 a0001c0001t0001g0173 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0264 a0001c0001t0001g0274 a0001c0001t0001g0281 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0322 a0001c0001t0001g0339 a0001c0001t0001g0345 a0001c0001t0001g0354 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0362 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0373 a0001c0001t0001g0390 a0001c0001t0001g0403 a0001c0001t0002g0152 a0005c0006t0001g0410 a0006c0008t0001g0007 a0009c0009t0001g0156	42	436	0.0963	-95	c.206 others(114): Show c.2062+1806_2062+1900delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAACCCCTTTTTTTTTTTAAAAAAAAA AAAAAAAAAAAAAAAAAAA		SLC26A3	ENSG00000091138.13	transcript	ENST00000340010.10	protein_coding	18/20						chr7	TogoVar
SLC39A14_chr8_22362278_22427736	22396405	GAGAGAGA others(88): Show GAGAGAGAGGGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGG GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0007 a0002c0006t0007	a0002c0006t0007g0281 a0002c0006t0007g0281	1	324	0.0031	-95	c.-15 others(112): Show c.-15-8290_-15-8196delAGAGAGAGGGGGGGGGGAGAGAGAGAGA GAGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGA		SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8						chr8	TogoVar
SLC66A2_chr18_79897420_79956653	79915971	TCCCACAG others(88): Show TCCCACAGTGCTTCTGTACCCGCGGTGCTCTCATAGCCGCAGTGCTCCCG TACCCTCCCATACCCACGGTGCTCCCGTACCCATGGCGCTCCCATA	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01934.hp2 HG01978.hp2 HG01361.hp2 HG01934.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0239 a0001c0001t0006g0241 a0001c0001t0006g0243 a0001c0001t0006g0239 a0001c0001t0006g0241 a0001c0001t0006g0243	3	352	0.0085	-95	c.608 others(112): Show c.608+3118_608+3212delTATGGGAGCGCCATGGGTACGGGAGCAC CGTGGGTATGGGAGGGTACGGGAGCACTGCGGCTATGAGAGCACCGCGGG TACAGAAGCACTGTGGG		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	5/5						chr18	TogoVar
SLC6A12_chr12_185081_219157	216019	TTCCTAGC others(88): Show TTCCTAGCCTCCAAGACCCACTTGGTATTCAGACCAGTTAGTAAACTTCT GGAGGCCAGAGACTCTCTAATGTTGAGCCCTTCCTCACTCAAGTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01192.hp2 HG01952.hp1 others(21): Show HG00735.hp1 HG01192.hp2 HG01952.hp1 HG02109.hp1 HG02257.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02976.hp1 HG03041.hp2 HG03209.hp1 HG06807.hp1 NA18522.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0025 a0002c0002 a0002c0003 others(5): Show a0001c0025 a0002c0002 a0002c0003 a0002c0005 a0002c0018 a0002c0020 a0003c0006 a0004c0026	a0001c0025t0021 a0002c0002t0002 a0002c0002t0010 others(14): Show a0001c0025t0021 a0002c0002t0002 a0002c0002t0010 a0002c0002t0014 a0002c0003t0002 a0002c0003t0006 a0002c0003t0010 a0002c0003t0017 a0002c0005t0001 a0002c0005t0002 a0002c0005t0003 a0002c0005t0009 a0002c0005t0026 a0002c0018t0002 a0002c0020t0006 a0003c0006t0005 a0004c0026t0011	a0001c0025t0021g0024 a0002c0002t0002g0390 a0002c0002t0010g0363 others(20): Show a0001c0025t0021g0024 a0002c0002t0002g0390 a0002c0002t0010g0363 a0002c0002t0014g0376 a0002c0003t0002g0377 a0002c0003t0006g0367 a0002c0003t0010g0364 a0002c0003t0017g0019 a0002c0005t0001g0018 a0002c0005t0001g0379 a0002c0005t0001g0381 a0002c0005t0001g0382 a0002c0005t0001g0385 a0002c0005t0001g0387 a0002c0005t0002g0384 a0002c0005t0003g0378 a0002c0005t0009g0388 a0002c0005t0009g0389 a0002c0005t0026g0386 a0002c0018t0002g0365 a0002c0020t0006g0380 a0003c0006t0005g0383 a0004c0026t0011g0025	24	420	0.0571	-95	c.-23 others(106): Show c.-2335_-2241delGAACTTGAGTGAGGAAGGGCTCAACATTAGAGAG TCTCTGGCCTCCAGAAGTTTACTAACTGGTCTGAATACCAAGTGGGTCTT GGAGGCTAGGA		SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding					1863		chr12	TogoVar
SLC6A13_chr12_215622_267836	216019	TTCCTAGC others(88): Show TTCCTAGCCTCCAAGACCCACTTGGTATTCAGACCAGTTAGTAAACTTCT GGAGGCCAGAGACTCTCTAATGTTGAGCCCTTCCTCACTCAAGTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01192.hp2 HG01952.hp2 others(23): Show HG00735.hp2 HG01192.hp2 HG01952.hp2 HG02109.hp1 HG02257.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02976.hp2 HG03041.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG06807.hp1 NA18522.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0009	a0001c0001 a0001c0002 a0001c0009 others(6): Show a0001c0001 a0001c0002 a0001c0009 a0001c0020 a0002c0003 a0002c0007 a0004c0010 a0006c0016 a0009c0012	a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 a0001c0020t0001 a0002c0003t0001 a0002c0007t0001 a0004c0010t0001 a0006c0016t0001 a0009c0012t0001	a0001c0001t0001g0103 a0001c0001t0001g0119 a0001c0001t0001g0148 others(22): Show a0001c0001t0001g0103 a0001c0001t0001g0119 a0001c0001t0001g0148 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0193 a0001c0001t0001g0242 a0001c0002t0001g0013 a0001c0002t0001g0069 a0001c0002t0001g0117 a0001c0009t0001g0244 a0001c0020t0001g0318 a0002c0003t0001g0078 a0002c0003t0001g0092 a0002c0003t0001g0190 a0002c0003t0001g0191 a0002c0003t0001g0366 a0002c0003t0001g0368 a0002c0007t0001g0173 a0004c0010t0001g0162 a0006c0016t0001g0034 a0009c0012t0001g0149	26	442	0.0588	-95	c.48 others(106): Show c.4834_*4928delGAACTTGAGTGAGGAAGGGCTCAACATTAGAGAG TCTCTGGCCTCCAGAAGTTTACTAACTGGTCTGAATACCAAGTGGGTCTT GGAGGCTAGGA		SLC6A13	ENSG00000010379.16	transcript	ENST00000343164.9	protein_coding					4602		chr12	TogoVar
SMIM10L1_chr12_11166194_11181016	11168256	GAAAGAAA others(88): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 NA18906.hp2 HG02559.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	2	397	0.0050	-95	c.-31 others(106): Show c.-3100_-3006delAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGGAAAGAA		SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding					2937		chr12	TogoVar
SMIM2_chr13_44138150_44166257	44142132	CCTCGGCT others(88): Show CCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp2 HG01517.hp2 others(2): Show HG01516.hp1 HG01516.hp2 HG01517.hp2 HG03471.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0008 a0001c0001t0002g0030 a0001c0001t0002g0046 others(1): Show a0001c0001t0001g0008 a0001c0001t0002g0030 a0001c0001t0002g0046 a0001c0001t0002g0116	5	380	0.0132	-95	c.16 others(106): Show c.1691_*1785delCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAG		SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding					1017		chr13	TogoVar
SNAPC4_chr9_136370571_136405170	136403369	CGGGGGAG others(88): Show CGGGGGAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGG GGAAGAAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0149 a0001c0004t0001g0149	1	380	0.0026	-95	c.-33 others(106): Show c.-3340_-3246delCGGCAAACCCCACCCCTTGCTCCCAGGAACCCTG TCCCTTTCTTCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGTCC CTTTCTCCCCC		SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding					3200		chr9	TogoVar
SORCS2_chr4_7187538_7747827	7203418	CGCCTCAA others(88): Show CGCCTCAAAAAAAATTCTTTTTTCTTTAGAGACGGAGATTGCAGTGAGCC GAGATCGTGCCACTGCACTCTGGCCTGGGCGACAGAGCAAGACTCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG00642.hp1 others(28): Show HG00323.hp1 HG00639.hp1 HG00642.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01175.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01884.hp1 HG01934.hp1 HG01952.hp1 HG02040.hp2 HG02056.hp2 HG02602.hp2 HG02630.hp1 HG03017.hp1 HG03688.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA20752.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0017 a0001c0028 a0001c0030 a0001c0034 a0001c0047 a0001c0049 a0002c0004 a0002c0050 a0004c0043	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(27): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0032 a0001c0001t0069 a0001c0002t0003 a0001c0002t0006 a0001c0003t0002 a0001c0003t0008 a0001c0003t0009 a0001c0003t0010 a0001c0003t0015 a0001c0003t0016 a0001c0006t0001 a0001c0006t0005 a0001c0017t0005 a0001c0028t0028 a0001c0030t0040 a0001c0034t0009 a0001c0047t0071 a0001c0049t0001 a0002c0004t0008 a0002c0004t0024 a0002c0004t0056 a0002c0050t0045 a0004c0043t0037	a0001c0001t0003g0053 a0001c0001t0005g0130 a0001c0001t0006g0055 others(28): Show a0001c0001t0003g0053 a0001c0001t0005g0130 a0001c0001t0006g0055 a0001c0001t0010g0129 a0001c0001t0012g0137 a0001c0001t0018g0011 a0001c0001t0020g0052 a0001c0001t0032g0141 a0001c0001t0069g0092 a0001c0002t0003g0131 a0001c0002t0006g0158 a0001c0002t0006g0159 a0001c0003t0002g0073 a0001c0003t0008g0135 a0001c0003t0009g0086 a0001c0003t0010g0001 a0001c0003t0015g0034 a0001c0003t0016g0091 a0001c0006t0001g0054 a0001c0006t0005g0165 a0001c0017t0005g0056 a0001c0028t0028g0152 a0001c0030t0040g0109 a0001c0034t0009g0093 a0001c0047t0071g0051 a0001c0049t0001g0059 a0002c0004t0008g0060 a0002c0004t0024g0057 a0002c0004t0056g0134 a0002c0050t0045g0132 a0004c0043t0037g0058	31	168	0.1845	-95	c.480 others(114): Show c.480+10392_480+10486delCAAAAAAAATTCTTTTTTCTTTAGAG ACGGAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCTGGCCTGGGCG ACAGAGCAAGACTCTGCCT		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SPESP1_chr15_68925525_68951811	68943056	TTACTATA others(88): Show TTACTATATTAAATGATTGGTGTGTGTGTGTGTGTGTGTGTGTATGTGTG TGTGTTTAGTGAGTAAAACATTATAGTTAAAGTCTAAAGTCTCCTC	T T	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0054 a0002c0002t0001g0054	1	402	0.0025	-95	c.65- others(110): Show c.65-2538_65-2444delATATTAAATGATTGGTGTGTGTGTGTGTGT GTGTGTGTATGTGTGTGTGTTTAGTGAGTAAAACATTATAGTTAAAGTCT AAAGTCTCCTCTACT		SPESP1	ENSG00000258484.4	transcript	ENST00000310673.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr15	TogoVar
ST8SIA4_chr5_100801933_100908282	100852100	TTTGCTCC others(88): Show TTTGCTCCACTCTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTA TCACTGTGTCATCCAGGCTGGAGTGCAGTAGCATGAGCTCGGCTCA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03540.hp1 HG03130.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0048 a0001c0001t0033 a0001c0001t0048	a0001c0001t0033g0024 a0001c0001t0048g0166 a0001c0001t0033g0024 a0001c0001t0048g0166	2	298	0.0067	-95	c.797 others(112): Show c.797+3908_797+4002delTGAGCCGAGCTCATGCTACTGCACTCCA GCCTGGATGACACAGTGATACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AAAGAAGAGTGGAGCAA		ST8SIA4	ENSG00000113532.13	transcript	ENST00000231461.10	protein_coding	4/4						chr5	TogoVar
STARD13_chr13_33098137_33290755	33177780	GAAGGAAG others(88): Show GAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA20129.hp1 HG02717.hp1 NA20129.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0025 a0001c0001 a0008c0025	a0001c0001t0010 a0008c0025t0010 a0001c0001t0010 a0008c0025t0010	a0001c0001t0010g0062 a0008c0025t0010g0183 a0001c0001t0010g0062 a0008c0025t0010g0183	2	302	0.0066	-95	c.170 others(114): Show c.170-10253_170-10159delTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTC CTTCCTTCCTTCCTTCCTT		STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13						chr13	TogoVar
STARD13_chr13_33098137_33290755	33177891	GAAGGAAG others(88): Show GAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0061 a0001c0001t0004g0061	1	302	0.0033	-95	c.170 others(114): Show c.170-10364_170-10270delTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTTCCTTCCTTCCTTCCTT		STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13						chr13	TogoVar
STIM1_chr11_3850664_4098208	3895730	CTTTCTTT others(88): Show CTTTCTTTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCCTTCCTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp1 NA18940.hp2 others(3): Show HG02559.hp2 HG02622.hp1 NA18940.hp2 NA18951.hp1 NA19068.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002	a0001c0001t0005g0155 a0001c0001t0005g0161 a0001c0001t0005g0275 others(3): Show a0001c0001t0005g0155 a0001c0001t0005g0161 a0001c0001t0005g0275 a0001c0002t0001g0141 a0001c0002t0001g0163 a0001c0002t0002g0231	6	300	0.0200	-95	c.139 others(114): Show c.139+39329_139+39423delTTCTTTCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCC TTCCTTCTTTCTTTTCTTT		STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
STK38L_chr12_27239286_27330959	27241192	TTATATAT others(88): Show TTATATATATTACATATATGACTCTGTATAGTTATATATATTACATATAT GACTCTGTATAGTTATATATATTACATATATGACTCTGTATAGTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	374	0.0027	-95	c.-31 others(106): Show c.-3151_-3057delTATATATATTACATATATGACTCTGTATAGTTAT ATATATTACATATATGACTCTGTATAGTTATATATATTACATATATGACT CTGTATAGTTA		STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding					3093		chr12	TogoVar
TACC3_chr4_1716521_1750171	1720927	GCGGCCGC others(88): Show GCGGCCGCCGCCCGGCCGCCCGCGGGGCACTCTAGGACATGGAGTCCCGC CGCCCGGCCGCCCGCGGGGCACTCTAGGACATGGAGTCCCGCCGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0063 a0001c0006t0001g0063	1	344	0.0029	-95	c.-71 others(104): Show c.-717_-623delCGGCCGCCGCCCGGCCGCCCGCGGGGCACTCTAGGA CATGGAGTCCCGCCGCCCGGCCGCCCGCGGGGCACTCTAGGACATGGAGT CCCGCCGCC		TACC3	ENSG00000013810.21	transcript	ENST00000313288.9	protein_coding					593		chr4	TogoVar

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