Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPESP1_chr15_68925525_68951811	68943247	T T	TAAAACCC others(42): Show TAAAACCCAGCCAAACTGCACAGAACGACAAGAACAACCAAAACACTAAA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0054 a0002c0002t0001g0054	1	402	0.0025	49	c.65- others(64): Show c.65-2352_65-2351insAAAACCCAGCCAAACTGCACAGAACGACAA GAACAACCAAAACACTAAA	SPESP1	ENSG00000258484.4	transcript	ENST00000310673.4	protein_coding	1/1			chr15	TogoVar
SPG7_chr16_89503403_89562766	89541008	C C	CTAGAAGA others(42): Show CTAGAAGAGCTGAAACTGGTGTATCCTTATCACGGTGTTGTACGCAGAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03225.hp2 HG03453.hp1 HG02886.hp1 HG03225.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0240 a0001c0001t0001g0327 a0001c0001t0001g0223 a0001c0001t0001g0240 a0001c0001t0001g0327	3	358	0.0084	49	c.132 others(68): Show c.1325-3552_1325-3504dupGTACGCAGAAATAGAAGAGCTGAAAC TGGTGTATCCTTATCACGGTGTT	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPG7_chr16_89503403_89562766	89541145	C C	CTACGCAG others(42): Show CTACGCAGAAATAGAAGAGCTGAAACTGGTGTATCCTTATCACGGTGTTG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	358	0.0028	49	c.132 others(68): Show c.1325-3455_1325-3454insGTACGCAGAAATAGAAGAGCTGAAAC TGGTGTATCCTTATCACGGTGTT	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPICE1_chr3_113437718_113520156	113480931	A A	AGAAAGAA others(42): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01192.hp1 others(2): Show HG01070.hp1 HG01071.hp1 HG01192.hp1 NA18981.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0007 a0001c0002t0003 a0001c0002t0007	a0001c0002t0003g0275 a0001c0002t0003g0301 a0001c0002t0003g0309 others(2): Show a0001c0002t0003g0275 a0001c0002t0003g0301 a0001c0002t0003g0309 a0001c0002t0003g0310 a0001c0002t0007g0260	5	364	0.0137	49	c.611 others(66): Show c.611+8013_611+8014insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTC	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17			chr3	TogoVar
SPINK13_chr5_148263794_148291255	148264087	A A	ACTGGTCC others(42): Show ACTGGTCCCTCCCACAACATGAGGAAATTATGGGAGCTACAATTCGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	376	0.0027	49	c.-48 others(60): Show c.-4835_-4834insCTGGTCCCTCCCACAACATGAGGAAATTATGGGA GCTACAATTCGAGAT	SPINK13	ENSG00000214510.10	transcript	ENST00000398450.5	protein_coding		4706		chr5	TogoVar
SPINK2_chr4_56804861_56826701	56821746	A A	AGGGCGGG others(42): Show AGGGCGGGGAAAGGGGCGGGGGAAGGGGCGGGGGGAAGGGGCGGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02258.hp2 HG02572.hp1 HG01891.hp2 HG02258.hp2 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0048 a0002c0002t0002g0198 a0002c0002t0002g0212 a0002c0002t0002g0048 a0002c0002t0002g0198 a0002c0002t0002g0212	3	428	0.0070	49	c.-85 others(56): Show c.-85_-84insCTTCCCCCGCCCCTTCCCCCCGCCCCTTCCCCCGCCCC TTTCCCCGCCC	SPINK2	ENSG00000128040.13	transcript	ENST00000506738.6	protein_coding		46		chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167205307	T T	TATTATAG others(42): Show TATTATAGATATAAAATATATATATTATATATTTTATATATAATATATTA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	144	0.0069	49	c.189 others(68): Show c.189+28677_189+28678insTAATATATTATATATAAAATATATAA TATATATATTTTATATCTATAAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167205520	A A	ATATATTA others(42): Show ATATATTATATATTATATAATATATATAATATATATTATATAATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	144	0.0069	49	c.189 others(68): Show c.189+28464_189+28465insATATATATTATATAATATATATTATA TATATTATATAATATATAATATA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPON2_chr4_1161932_1177583	1175015	G G	GCCCTCCA others(42): Show GCCCTCCACGAGTCCCCAGACTGCCCCTGGCCCAGGCCCTCCCTCAGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0075 a0004c0005t0001g0075	1	432	0.0023	49	c.-24 others(60): Show c.-2476_-2475insGGGCTGAGGGAGGGCCTGGGCCAGGGGCAGTCTG GGGACTCGTGGAGGG	SPON2	ENSG00000159674.12	transcript	ENST00000290902.10	protein_coding		2433		chr4	TogoVar
SPRED2_chr2_65305851_65437599	65339119	T T	TCCCGGCC others(42): Show TCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(139): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02145.hp2 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp2 HG03688.hp1 HG03927.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18959.hp2 NA18960.hp2 NA18966.hp1 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18999.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19058.hp1 NA19068.hp1 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0009 a0002c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(20): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0020 a0001c0001t0022 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0013 a0001c0002t0015 a0001c0002t0016 a0001c0002t0017 a0001c0002t0018 a0001c0003t0003 a0001c0007t0001 a0001c0009t0001 a0002c0008t0001	a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 others(139): Show a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0039 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0003g0123 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0171 a0001c0001t0003g0179 a0001c0001t0003g0187 a0001c0001t0003g0193 a0001c0001t0003g0200 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0212 a0001c0001t0003g0226 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0252 a0001c0001t0003g0259 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0005g0119 a0001c0001t0005g0211 a0001c0001t0005g0214 a0001c0001t0005g0216 a0001c0001t0005g0217 a0001c0001t0005g0218 a0001c0001t0005g0219 a0001c0001t0006g0210 a0001c0001t0007g0261 a0001c0001t0008g0197 a0001c0001t0008g0198 a0001c0001t0008g0260 a0001c0001t0009g0001 a0001c0001t0012g0008 a0001c0001t0014g0208 a0001c0001t0020g0215 a0001c0001t0022g0194 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0131 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0199 a0001c0002t0001g0204 a0001c0002t0001g0262 a0001c0002t0003g0128 a0001c0002t0003g0129 a0001c0002t0003g0130 a0001c0002t0004g0021 a0001c0002t0004g0061 a0001c0002t0004g0074 a0001c0002t0004g0075 a0001c0002t0013g0178 a0001c0002t0015g0117 a0001c0002t0016g0108 a0001c0002t0017g0094 a0001c0002t0018g0158 a0001c0003t0003g0220 a0001c0003t0003g0222 a0001c0003t0003g0223 a0001c0003t0003g0224 a0001c0003t0003g0225 a0001c0007t0001g0201 a0001c0009t0001g0221 a0002c0008t0001g0132	142	276	0.5145	49	c.205 others(66): Show c.205-4347_205-4346insCGGGGGGCTGACCCCCCCACCTCCCTCC CAGACGGGGCGGCTGGCCGGG	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	2/5			chr2	TogoVar
SPRED2_chr2_65305851_65437599	65339130	C C	CGCCCCGT others(42): Show CGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01167.hp2 others(41): Show HG01069.hp1 HG01071.hp1 HG01167.hp2 HG01243.hp1 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18991.hp1 NA19043.hp2 NA19084.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0021 a0001c0001t0023 a0001c0002t0019 a0001c0004t0002 a0001c0004t0025 a0001c0005t0001	a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 others(41): Show a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0003g0203 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0235 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0253 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0006g0234 a0001c0001t0006g0236 a0001c0001t0006g0237 a0001c0001t0006g0238 a0001c0001t0006g0265 a0001c0001t0006g0269 a0001c0001t0007g0209 a0001c0001t0007g0251 a0001c0001t0021g0268 a0001c0001t0023g0270 a0001c0002t0019g0229 a0001c0004t0002g0004 a0001c0004t0002g0072 a0001c0004t0002g0073 a0001c0004t0025g0276 a0001c0005t0001g0122	44	276	0.1594	49	c.205 others(66): Show c.205-4358_205-4357insAGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCAGACGGGGC	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	2/5			chr2	TogoVar
SRCIN1_chr17_38525031_38610952	38556676	G G	GGGGGGTC others(42): Show GGGGGGTCAGGGAGGTCCCTGGAAAAAGAAAAAAGAGAAGTAGGGTAGGA	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	261	0.0038	49	c.220 others(68): Show c.2201+1550_2201+1551insTCCTACCCTACTTCTCTTTTTTCTTT TTCCAGGGACCTCCCTGACCCCC	SRCIN1	ENSG00000277363.5	transcript	ENST00000617146.5	protein_coding	11/18			chr17	TogoVar
SRP68_chr17_76033785_76077517	76062566	T T	TTATATAA others(42): Show TTATATAATATACATTATATATTATATAATATACATTATATATTATATAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01099.hp1 others(13): Show HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01109.hp1 HG01515.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02074.hp1 HG02145.hp2 HG02683.hp2 HG03195.hp1 HG03942.hp1 NA18941.hp1 NA18954.hp2 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0002 a0005c0007t0001 a0001c0001t0002 a0005c0007t0001	a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0056 others(11): Show a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0083 a0001c0001t0002g0095 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0177 a0001c0001t0002g0178 a0005c0007t0001g0028	16	365	0.0438	49	c.562 others(64): Show c.562-993_562-992insTTATATAATATATAATGTATATTATATAAT ATATAATGTATATTATATA	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP68_chr17_76033785_76077517	76062578	C C	CATTATAT others(42): Show CATTATATATTATATAATATACATTATATATTATATAATATACATTATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	365	0.0027	49	c.562 others(66): Show c.562-1005_562-1004insATATAATGTATATTATATAATATATAAT GTATATTATATAATATATAAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP68_chr17_76033785_76077517	76062606	T T	TAATATAC others(42): Show TAATATACATTATATATTATATAATATACATTATATAATATATAATATAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	365	0.0027	49	c.562 others(66): Show c.562-1033_562-1032insGTATATTATATATTATATAATGTATATT ATATAATATATAATGTATATT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP68_chr17_76033785_76077517	76062740	T T	TATATATA others(42): Show TATATATATATATATATAAAATATATATATATATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0285 a0001c0002t0001g0285	1	365	0.0027	49	c.562 others(66): Show c.562-1167_562-1166insTTTTATATATATATATATATATATATAT ATTTTATATATATATATATAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0005 a0005	a0005c0073 a0005c0073	a0005c0073t0001 a0005c0073t0001	a0005c0073t0001g0355 a0005c0073t0001g0355	1	412	0.0024	49	c.138 others(66): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATATATATATATTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA19002.hp2 HG02155.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0285 a0001c0001t0001g0105 a0001c0001t0001g0285	2	412	0.0049	49	c.138 others(66): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATATATTTTTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSX2B_chrX_52746252_52766536	52748038	T T	TTTTATAT others(42): Show TTTTATATGCTTAACCATTGATCCTTCCTAAAATTCAATGAAAACAATGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	55	0.0182	49	c.-33 others(60): Show c.-3301_-3300insTTTATATGCTTAACCATTGATCCTTCCTAAAATT CAATGAAAACAATGA	SSX2B	ENSG00000268447.6	transcript	ENST00000596480.6	protein_coding		3213		chrX	TogoVar
ST7_chr7_116948501_117235176	117027463	A A	AAAAGTAA others(42): Show AAAAGTAAAAGTAAAAGTAAAAGTAAAAGTAAAGTAAAGTAAAGTAAAGT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02970.hp1 HG02647.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0089 a0001c0001t0001g0092	2	188	0.0106	49	c.152 others(68): Show c.152-72291_152-72290insAGTAAAAGTAAAAGTAAAAGTAAAGT AAAGTAAAGTAAAGTAAAGTAAA	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
STAB2_chr12_103582273_103771719	103643940	C C	CTGTCTGG others(42): Show CTGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0033 a0033	a0033c0055 a0033c0055	a0033c0055t0002 a0033c0055t0002	a0033c0055t0002g0238 a0033c0055t0002g0238	1	256	0.0039	49	c.104 others(68): Show c.1040+3684_1040+3685insTGTCTGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding	9/68			chr12	TogoVar
STAB2_chr12_103582273_103771719	103643941	C C	CGTCCGGG others(42): Show CGTCCGGGAGGGAGGTCGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0032 a0032	a0032c0095 a0032c0095	a0032c0095t0001 a0032c0095t0001	a0032c0095t0001g0050 a0032c0095t0001g0050	1	256	0.0039	49	c.104 others(68): Show c.1040+3695_1040+3696insGAGGTCGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCAGGTCCGGGAGG	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding	9/68		INFO_REALIGN_3_PRIME	chr12	TogoVar
STAB2_chr12_103582273_103771719	103643941	C C	CGTCCGGG others(42): Show CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp2 HG02109.hp2 others(18): Show HG01081.hp2 HG02055.hp2 HG02109.hp2 HG02572.hp1 HG02572.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03139.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 NA19030.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp1	a0001 a0004 a0006 others(8): Show a0001 a0004 a0006 a0011 a0013 a0014 a0026 a0036 a0037 a0047 a0049	a0001c0004 a0001c0039 a0001c0096 others(13): Show a0001c0004 a0001c0039 a0001c0096 a0004c0016 a0004c0076 a0004c0080 a0006c0099 a0011c0025 a0013c0051 a0013c0053 a0014c0024 a0026c0050 a0036c0049 a0037c0052 a0047c0140 a0049c0139	a0001c0004t0001 a0001c0004t0004 a0001c0039t0001 others(14): Show a0001c0004t0001 a0001c0004t0004 a0001c0039t0001 a0001c0096t0001 a0004c0016t0002 a0004c0076t0002 a0004c0080t0004 a0006c0099t0004 a0011c0025t0002 a0013c0051t0002 a0013c0053t0001 a0014c0024t0005 a0026c0050t0001 a0036c0049t0002 a0037c0052t0002 a0047c0140t0001 a0049c0139t0001	a0001c0004t0001g0098 a0001c0004t0004g0012 a0001c0039t0001g0038 others(17): Show a0001c0004t0001g0098 a0001c0004t0004g0012 a0001c0039t0001g0038 a0001c0039t0001g0039 a0001c0096t0001g0074 a0004c0016t0002g0092 a0004c0016t0002g0100 a0004c0076t0002g0239 a0004c0080t0004g0014 a0006c0099t0004g0013 a0011c0025t0002g0032 a0011c0025t0002g0033 a0013c0051t0002g0026 a0013c0053t0001g0027 a0014c0024t0005g0001 a0026c0050t0001g0048 a0036c0049t0002g0049 a0037c0052t0002g0030 a0047c0140t0001g0217 a0049c0139t0001g0055	21	256	0.0820	49	c.104 others(68): Show c.1040+3695_1040+3696insGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCAGGTCCGGGAGG	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding	9/68		INFO_REALIGN_3_PRIME	chr12	TogoVar
STAB2_chr12_103582273_103771719	103643941	C C	CGTCTGGG others(42): Show CGTCTGGGAGGGAGGTCGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0019 a0019	a0019c0144 a0019c0144	a0019c0144t0001 a0019c0144t0001	a0019c0144t0001g0216 a0019c0144t0001g0216	1	256	0.0039	49	c.104 others(68): Show c.1040+3688_1040+3689insTGGGAGGGAGGTCGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCAGGTC	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding	9/68		INFO_REALIGN_3_PRIME	chr12	TogoVar
STAB2_chr12_103582273_103771719	103643941	C C	CGTCTGGG others(42): Show CGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(166): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18982.hp1 NA18989.hp2 NA18993.hp1 NA18997.hp1 NA19000.hp1 NA19007.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19088.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(31): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0015 a0016 a0017 a0018 a0020 a0021 a0023 a0027 a0028 a0029 a0030 a0031 a0034 a0035 a0038 a0039 a0040 a0041 a0042 a0043 a0044 a0046 a0048	a0001c0001 a0001c0002 a0001c0003 others(100): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0012 a0001c0014 a0001c0018 a0001c0020 a0001c0033 a0001c0036 a0001c0038 a0001c0041 a0001c0042 a0001c0044 a0001c0046 a0001c0066 a0001c0081 a0001c0084 a0001c0085 a0001c0086 a0001c0088 a0001c0097 a0001c0104 a0001c0106 a0001c0107 a0001c0117 a0001c0122 a0001c0126 a0001c0127 a0001c0128 a0001c0130 a0001c0133 a0002c0005 a0002c0007 a0002c0008 a0002c0009 a0002c0011 a0002c0034 a0002c0035 a0002c0037 a0002c0045 a0002c0064 a0002c0065 a0002c0102 a0002c0105 a0002c0114 a0002c0129 a0002c0132 a0003c0013 a0003c0026 a0003c0028 a0003c0031 a0003c0048 a0003c0058 a0003c0061 a0003c0063 a0003c0134 a0003c0135 a0004c0016 a0004c0040 a0004c0113 a0004c0115 a0005c0027 a0005c0029 a0005c0056 a0005c0057 a0005c0059 a0005c0062 a0006c0098 a0006c0118 a0006c0119 a0007c0010 a0007c0077 a0008c0023 a0009c0071 a0010c0043 a0012c0078 a0012c0120 a0015c0141 a0015c0143 a0016c0030 a0017c0060 a0018c0067 a0020c0054 a0021c0072 a0023c0103 a0027c0100 a0028c0073 a0029c0138 a0030c0075 a0031c0142 a0034c0131 a0035c0083 a0038c0137 a0039c0111 a0040c0074 a0041c0101 a0042c0090 a0043c0047 a0044c0124 a0046c0125 a0048c0091	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(105): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0012t0001 a0001c0014t0001 a0001c0018t0001 a0001c0018t0002 a0001c0018t0007 a0001c0020t0001 a0001c0033t0001 a0001c0036t0001 a0001c0038t0001 a0001c0041t0002 a0001c0042t0001 a0001c0044t0001 a0001c0046t0001 a0001c0066t0001 a0001c0081t0001 a0001c0084t0002 a0001c0085t0001 a0001c0086t0001 a0001c0088t0001 a0001c0097t0001 a0001c0104t0001 a0001c0106t0001 a0001c0107t0001 a0001c0117t0001 a0001c0122t0001 a0001c0126t0002 a0001c0127t0001 a0001c0128t0004 a0001c0130t0001 a0001c0133t0001 a0002c0005t0001 a0002c0007t0001 a0002c0008t0001 a0002c0009t0001 a0002c0011t0001 a0002c0034t0001 a0002c0035t0001 a0002c0035t0006 a0002c0037t0001 a0002c0045t0001 a0002c0064t0001 a0002c0065t0001 a0002c0102t0001 a0002c0105t0001 a0002c0114t0001 a0002c0129t0001 a0002c0132t0001 a0003c0013t0001 a0003c0026t0001 a0003c0028t0001 a0003c0031t0001 a0003c0048t0001 a0003c0058t0001 a0003c0061t0001 a0003c0063t0001 a0003c0134t0003 a0003c0135t0001 a0004c0016t0002 a0004c0040t0002 a0004c0113t0002 a0004c0115t0001 a0005c0027t0001 a0005c0029t0001 a0005c0056t0001 a0005c0057t0001 a0005c0059t0001 a0005c0062t0001 a0006c0098t0001 a0006c0118t0001 a0006c0119t0001 a0007c0010t0001 a0007c0077t0001 a0008c0023t0001 a0008c0023t0002 a0009c0071t0001 a0010c0043t0001 a0012c0078t0001 a0012c0120t0001 a0015c0141t0002 a0015c0143t0002 a0016c0030t0001 a0017c0060t0001 a0018c0067t0001 a0020c0054t0001 a0021c0072t0001 a0023c0103t0001 a0027c0100t0001 a0028c0073t0002 a0029c0138t0001 a0030c0075t0001 a0031c0142t0003 a0034c0131t0001 a0035c0083t0002 a0038c0137t0002 a0039c0111t0001 a0040c0074t0001 a0041c0101t0001 a0042c0090t0001 a0043c0047t0002 a0044c0124t0001 a0046c0125t0001 a0048c0091t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0095 others(164): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0095 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0133 a0001c0001t0001g0144 a0001c0001t0001g0155 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0195 a0001c0001t0001g0208 a0001c0002t0001g0020 a0001c0002t0001g0104 a0001c0002t0001g0118 a0001c0002t0001g0128 a0001c0002t0001g0138 a0001c0002t0003g0135 a0001c0002t0003g0159 a0001c0003t0001g0021 a0001c0003t0001g0107 a0001c0003t0001g0109 a0001c0003t0001g0164 a0001c0004t0001g0070 a0001c0004t0001g0243 a0001c0004t0001g0244 a0001c0004t0001g0246 a0001c0004t0001g0247 a0001c0006t0001g0042 a0001c0006t0001g0058 a0001c0006t0001g0101 a0001c0006t0001g0108 a0001c0006t0001g0215 a0001c0012t0001g0065 a0001c0012t0001g0253 a0001c0014t0001g0194 a0001c0014t0001g0196 a0001c0018t0001g0007 a0001c0018t0002g0009 a0001c0018t0007g0005 a0001c0020t0001g0126 a0001c0020t0001g0168 a0001c0020t0001g0212 a0001c0033t0001g0153 a0001c0033t0001g0186 a0001c0036t0001g0093 a0001c0036t0001g0145 a0001c0038t0001g0022 a0001c0041t0002g0124 a0001c0042t0001g0031 a0001c0044t0001g0121 a0001c0046t0001g0177 a0001c0046t0001g0190 a0001c0066t0001g0072 a0001c0081t0001g0044 a0001c0084t0002g0252 a0001c0085t0001g0081 a0001c0086t0001g0245 a0001c0088t0001g0113 a0001c0097t0001g0006 a0001c0104t0001g0123 a0001c0106t0001g0129 a0001c0107t0001g0197 a0001c0117t0001g0232 a0001c0122t0001g0084 a0001c0126t0002g0136 a0001c0127t0001g0035 a0001c0128t0004g0011 a0001c0130t0001g0137 a0001c0133t0001g0174 a0002c0005t0001g0082 a0002c0005t0001g0178 a0002c0005t0001g0179 a0002c0005t0001g0191 a0002c0005t0001g0241 a0002c0007t0001g0059 a0002c0007t0001g0166 a0002c0007t0001g0173 a0002c0008t0001g0106 a0002c0008t0001g0111 a0002c0009t0001g0110 a0002c0009t0001g0112 a0002c0009t0001g0131 a0002c0011t0001g0203 a0002c0011t0001g0207 a0002c0011t0001g0210 a0002c0034t0001g0185 a0002c0034t0001g0187 a0002c0035t0001g0015 a0002c0035t0006g0218 a0002c0037t0001g0161 a0002c0037t0001g0205 a0002c0045t0001g0103 a0002c0045t0001g0150 a0002c0064t0001g0139 a0002c0065t0001g0119 a0002c0102t0001g0158 a0002c0105t0001g0211 a0002c0114t0001g0209 a0002c0129t0001g0242 a0002c0132t0001g0167 a0003c0013t0001g0122 a0003c0013t0001g0132 a0003c0013t0001g0140 a0003c0026t0001g0091 a0003c0026t0001g0141 a0003c0028t0001g0147 a0003c0028t0001g0148 a0003c0031t0001g0086 a0003c0031t0001g0162 a0003c0048t0001g0067 a0003c0058t0001g0102 a0003c0061t0001g0160 a0003c0063t0001g0097 a0003c0134t0003g0037 a0003c0135t0001g0036 a0004c0016t0002g0073 a0004c0040t0002g0008 a0004c0040t0002g0237 a0004c0113t0002g0046 a0004c0115t0001g0125 a0005c0027t0001g0063 a0005c0027t0001g0146 a0005c0029t0001g0003 a0005c0056t0001g0193 a0005c0057t0001g0181 a0005c0059t0001g0105 a0005c0062t0001g0142 a0006c0098t0001g0004 a0006c0118t0001g0079 a0006c0119t0001g0151 a0007c0010t0001g0071 a0007c0077t0001g0019 a0008c0023t0001g0056 a0008c0023t0001g0057 a0008c0023t0002g0054 a0009c0071t0001g0045 a0010c0043t0001g0023 a0010c0043t0001g0064 a0012c0078t0001g0154 a0012c0120t0001g0116 a0015c0141t0002g0052 a0015c0143t0002g0051 a0016c0030t0001g0002 a0017c0060t0001g0149 a0018c0067t0001g0204 a0020c0054t0001g0088 a0021c0072t0001g0041 a0023c0103t0001g0016 a0027c0100t0001g0078 a0028c0073t0002g0069 a0029c0138t0001g0053 a0030c0075t0001g0157 a0031c0142t0003g0248 a0034c0131t0001g0029 a0035c0083t0002g0028 a0038c0137t0002g0043 a0039c0111t0001g0060 a0040c0074t0001g0066 a0041c0101t0001g0034 a0042c0090t0001g0222 a0043c0047t0002g0047 a0044c0124t0001g0214 a0046c0125t0001g0087 a0048c0091t0001g0156	169	256	0.6602	49	c.104 others(68): Show c.1040+3688_1040+3689insTGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCAGGTC	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding	9/68		INFO_REALIGN_3_PRIME	chr12	TogoVar
STAB2_chr12_103582273_103771719	103643941	C C	CGTCTGGG others(42): Show CGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCAG	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA20129.hp1 HG03195.hp1 NA20129.hp1	a0001 a0001	a0001c0012 a0001c0042 a0001c0012 a0001c0042	a0001c0012t0001 a0001c0042t0003 a0001c0012t0001 a0001c0042t0003	a0001c0012t0001g0240 a0001c0042t0003g0010 a0001c0012t0001g0240 a0001c0042t0003g0010	2	256	0.0078	49	c.104 others(68): Show c.1040+3688_1040+3689insTGGGAGGGAGGTGGGGGGGTCAGCCC CCTGCCCGGCCAGCCGCCAGGTC	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding	9/68		INFO_REALIGN_3_PRIME	chr12	TogoVar
STAMBP_chr2_73823961_73872168	73846666	G G	GTATAAGT others(42): Show GTATAAGTTTGGATCTGGTTCTATTTTATAGCCTTACTTGAAATATAGAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0039 a0001c0002t0006g0039	1	368	0.0027	49	c.376 others(64): Show c.376-717_376-669dupAAGTTTGGATCTGGTTCTATTTTATAGCCT TACTTGAAATATAGAATAT	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	384	0.0026	49	c.762 others(68): Show c.762+35592_762+35593insAAAAAAAAATATATATATATATATAT ATATATATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	384	0.0026	49	c.762 others(68): Show c.762+35592_762+35593insAAAAAAAAAAAAAAATATATATATAT ATATATATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0250 a0002c0002t0002g0250	1	384	0.0026	49	c.762 others(68): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAAAAATATATAT ATATATATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP4_chr7_88265892_88311894	88266123	C C	CTCCCTCC others(42): Show CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0038 a0003c0003t0003g0038	1	318	0.0031	49	c.13 others(62): Show c.13274_*13275insAGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGA	STEAP4	ENSG00000127954.13	transcript	ENST00000380079.9	protein_coding		4768		chr7	TogoVar
STK10_chr5_172037079_172193224	172076207	T T	TGTTGTGG others(42): Show TGTTGTGGGGGCTGTCCTGTGCGTTAGTTGTGGGGGCGTCCTGTGCGTTA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0006 a0006	a0006c0028 a0006c0028	a0006c0028t0026 a0006c0028t0026	a0006c0028t0026g0222 a0006c0028t0026g0222	1	232	0.0043	49	c.198 others(68): Show c.1989+6118_1989+6119insTAACGCACAGGACGCCCCCACAACTA ACGCACAGGACAGCCCCCACAAC	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	12/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172076390	C C	CGTCCTGT others(42): Show CGTCCTGTGCATTTGTTGTGGGGGCGTCCTGTGCGTTAGTTGTGGGGGCT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03225.hp2 HG03098.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0015 a0001c0001t0010 a0001c0001t0015	a0001c0001t0010g0009 a0001c0001t0015g0048 a0001c0001t0010g0009 a0001c0001t0015g0048	2	232	0.0086	49	c.198 others(68): Show c.1989+5887_1989+5935dupAGCCCCCACAACTAACGCACAGGACG CCCCCACAACAAATGCACAGGAC	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	12/18			chr5	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0160 a0003c0003t0001g0160	1	404	0.0025	49	c.483 others(66): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATATATATATTTTTTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18999.hp1 NA19070.hp1 others(1): Show NA18979.hp2 NA18999.hp1 NA19070.hp1 NA19091.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0025 a0003c0003t0001g0094 a0003c0003t0001g0106 others(1): Show a0003c0003t0001g0025 a0003c0003t0001g0094 a0003c0003t0001g0106 a0003c0003t0001g0163	4	404	0.0099	49	c.483 others(66): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0084 a0003c0003t0001g0084	1	404	0.0025	49	c.483 others(66): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23750067	T T	TCCCCCCC others(42): Show TCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0152 a0003c0003t0001g0152	1	404	0.0025	49	c.101 others(68): Show c.1018-2642_1018-2641insCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCC	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK38L_chr12_27239286_27330959	27240998	C C	CTATGTAT others(42): Show CTATGTATAGTTGTATAGTTATATATATTACATATATCACTATGTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0041 a0001c0001t0015g0041	1	374	0.0027	49	c.-33 others(60): Show c.-3346_-3345insTATGTATAGTTGTATAGTTATATATATTACATAT ATCACTATGTATAGT	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		3287		chr12	TogoVar
STK39_chr2_167949022_168252595	167950975	T T	TTCTAGTG others(42): Show TTCTAGTGCTATGAAGTTTCATAAATTAAAATTGTCGCAACTTGCTTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0087 a0002c0002t0002g0087	1	270	0.0037	49	c.45 others(60): Show c.4520_*4521insGAGAAGCAAGTTGCGACAATTTTAATTTATGAAA CTTCATAGCACTAGA	STK39	ENSG00000198648.12	transcript	ENST00000355999.5	protein_coding		3046		chr2	TogoVar
STOML3_chr13_38960925_38995831	38988193	A A	AATATATT others(42): Show AATATATTTTATATCATATATTTTATAAATAATATATTATATTTTATATC	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18747.hp1 NA18975.hp2 others(3): Show HG02698.hp1 NA18747.hp1 NA18975.hp2 NA19003.hp2 NA19057.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0014 a0001c0001t0001g0059 a0001c0001t0001g0069 others(2): Show a0001c0001t0001g0014 a0001c0001t0001g0059 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0002g0060	6	396	0.0152	49	c.52+ others(64): Show c.52+2476_52+2477insGATATAAAATATAATATATTATTTATAAAA TATATGATATAAAATATAT	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988194	T T	TTATATTT others(42): Show TTATATTTTATATCATATATTTTATATATAATATATTATATTTTATATCA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03098.hp2 HG03471.hp1 HG02615.hp1 HG03098.hp2 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0046 a0001c0001t0004g0047 a0002c0002t0001g0048 a0001c0001t0004g0046 a0001c0001t0004g0047 a0002c0002t0001g0048	3	396	0.0076	49	c.52+ others(64): Show c.52+2475_52+2476insTGATATAAAATATAATATATTATATATAAA ATATATGATATAAAATATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988320	T T	TGATATTT others(42): Show TGATATTTTATATCATATATTTTATATAAAATATATGATATTTTATATCA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0244 a0002c0002t0008g0244	1	396	0.0025	49	c.52+ others(64): Show c.52+2349_52+2350insTGATATAAAATATCATATATTTTATATAAA ATATATGATATAAAATATC	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988320	T T	TGATATTT others(42): Show TGATATTTTATATCATATATTTTATATAAAATGTATGATATTTTATATCA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0241 a0001c0001t0001g0242	2	396	0.0051	49	c.52+ others(64): Show c.52+2349_52+2350insTGATATAAAATATCATACATTTTATATAAA ATATATGATATAAAATATC	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988320	T T	TTATATTT others(42): Show TTATATTTTATATCATATATTTTATATATAATATATTATATTTTATATCA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0050 a0001c0001t0004g0050	1	396	0.0025	49	c.52+ others(64): Show c.52+2349_52+2350insTGATATAAAATATAATATATTATATATAAA ATATATGATATAAAATATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988444	T T	TTATATTT others(42): Show TTATATTTTATATCATATATTTTATATATAATATATTATATTTTATATCA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	396	0.0025	49	c.52+ others(64): Show c.52+2225_52+2226insTGATATAAAATATAATATATTATATATAAA ATATATGATATAAAATATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STON1_chr2_48525154_48603513	48555327	C C	CCCCCCAC others(42): Show CCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCGGGGGGCTGACG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00408.hp1 others(219): Show HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18969.hp1 NA18970.hp2 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18990.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp2 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0007 a0010 a0013 a0014 a0015 a0016 a0019 a0021	a0001c0001 a0001c0003 a0001c0008 others(16): Show a0001c0001 a0001c0003 a0001c0008 a0001c0017 a0001c0020 a0002c0002 a0003c0004 a0004c0007 a0004c0009 a0004c0010 a0005c0006 a0007c0011 a0010c0024 a0013c0016 a0014c0022 a0015c0018 a0016c0013 a0019c0019 a0021c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(38): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0026 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0007 a0001c0003t0008 a0001c0003t0012 a0001c0003t0013 a0001c0003t0014 a0001c0003t0017 a0001c0003t0025 a0001c0003t0031 a0001c0003t0033 a0001c0003t0035 a0001c0008t0004 a0001c0008t0014 a0001c0017t0005 a0001c0020t0005 a0002c0002t0001 a0003c0004t0004 a0004c0007t0001 a0004c0007t0012 a0004c0009t0003 a0004c0010t0004 a0005c0006t0011 a0007c0011t0012 a0010c0024t0001 a0013c0016t0001 a0014c0022t0001 a0015c0018t0003 a0016c0013t0001 a0019c0019t0001 a0021c0014t0028	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0011 others(219): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0198 a0001c0001t0001g0207 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0286 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0308 a0001c0001t0001g0332 a0001c0001t0001g0338 a0001c0001t0001g0348 a0001c0001t0001g0352 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0370 a0001c0001t0003g0021 a0001c0001t0003g0050 a0001c0001t0003g0059 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0090 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0107 a0001c0001t0003g0110 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0168 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0240 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0345 a0001c0001t0003g0353 a0001c0001t0004g0188 a0001c0001t0004g0191 a0001c0001t0004g0306 a0001c0001t0004g0307 a0001c0001t0006g0343 a0001c0001t0006g0344 a0001c0001t0006g0349 a0001c0001t0006g0350 a0001c0001t0006g0351 a0001c0001t0006g0356 a0001c0001t0006g0361 a0001c0001t0006g0371 a0001c0001t0010g0264 a0001c0001t0010g0268 a0001c0001t0010g0285 a0001c0001t0010g0303 a0001c0001t0010g0336 a0001c0001t0015g0337 a0001c0001t0015g0373 a0001c0001t0016g0025 a0001c0001t0016g0091 a0001c0001t0018g0154 a0001c0001t0026g0256 a0001c0003t0001g0041 a0001c0003t0001g0057 a0001c0003t0001g0111 a0001c0003t0001g0184 a0001c0003t0001g0204 a0001c0003t0001g0271 a0001c0003t0001g0293 a0001c0003t0001g0294 a0001c0003t0001g0310 a0001c0003t0001g0311 a0001c0003t0002g0004 a0001c0003t0002g0037 a0001c0003t0002g0039 a0001c0003t0002g0040 a0001c0003t0002g0042 a0001c0003t0002g0043 a0001c0003t0002g0044 a0001c0003t0002g0045 a0001c0003t0002g0046 a0001c0003t0002g0095 a0001c0003t0002g0103 a0001c0003t0002g0106 a0001c0003t0002g0108 a0001c0003t0002g0122 a0001c0003t0002g0141 a0001c0003t0002g0151 a0001c0003t0002g0175 a0001c0003t0002g0183 a0001c0003t0002g0205 a0001c0003t0002g0206 a0001c0003t0002g0210 a0001c0003t0002g0239 a0001c0003t0002g0272 a0001c0003t0002g0273 a0001c0003t0002g0299 a0001c0003t0005g0274 a0001c0003t0005g0280 a0001c0003t0005g0287 a0001c0003t0005g0288 a0001c0003t0005g0298 a0001c0003t0005g0300 a0001c0003t0007g0056 a0001c0003t0007g0062 a0001c0003t0007g0092 a0001c0003t0007g0112 a0001c0003t0007g0157 a0001c0003t0007g0231 a0001c0003t0008g0135 a0001c0003t0008g0162 a0001c0003t0008g0164 a0001c0003t0008g0165 a0001c0003t0012g0269 a0001c0003t0013g0329 a0001c0003t0013g0331 a0001c0003t0014g0136 a0001c0003t0017g0281 a0001c0003t0017g0289 a0001c0003t0025g0109 a0001c0003t0031g0363 a0001c0003t0033g0180 a0001c0003t0035g0027 a0001c0008t0004g0368 a0001c0008t0004g0369 a0001c0008t0014g0372 a0001c0017t0005g0195 a0001c0020t0005g0279 a0002c0002t0001g0226 a0003c0004t0004g0237 a0003c0004t0004g0313 a0003c0004t0004g0314 a0003c0004t0004g0315 a0003c0004t0004g0316 a0003c0004t0004g0317 a0003c0004t0004g0318 a0003c0004t0004g0319 a0003c0004t0004g0320 a0003c0004t0004g0321 a0003c0004t0004g0323 a0003c0004t0004g0324 a0003c0004t0004g0325 a0003c0004t0004g0326 a0003c0004t0004g0327 a0003c0004t0004g0328 a0003c0004t0004g0330 a0003c0004t0004g0366 a0004c0007t0001g0265 a0004c0007t0001g0267 a0004c0007t0012g0266 a0004c0009t0003g0048 a0004c0009t0003g0063 a0004c0010t0004g0238 a0004c0010t0004g0244 a0005c0006t0011g0211 a0005c0006t0011g0212 a0005c0006t0011g0301 a0005c0006t0011g0304 a0005c0006t0011g0335 a0007c0011t0012g0193 a0007c0011t0012g0270 a0010c0024t0001g0249 a0013c0016t0001g0305 a0014c0022t0001g0038 a0015c0018t0003g0105 a0016c0013t0001g0254 a0019c0019t0001g0174 a0021c0014t0028g0376	222	376	0.5904	49	c.-48 others(68): Show c.-48+25130_-48+25131insCGGGGCTGCTGGCCGGGCGGGGGGCT GACGCCCCCACCTCCCTCCCGGA	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48555327	C C	CCCCCCAC others(42): Show CCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCGGGGGGCTGATG	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA19030.hp1 HG03453.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0179 a0001c0003t0002g0185 a0001c0003t0002g0179 a0001c0003t0002g0185	2	376	0.0053	49	c.-48 others(68): Show c.-48+25130_-48+25131insCGGGGCTGCTGGCCGGGCGGGGGGCT GATGCCCCCACCTCCCTCCCGGA	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STXBP3_chr1_108741674_108814523	108771655	T T	TATATATA others(42): Show TATATATATAATATATAAATATGATATATATCTATATATATCATATATAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01081.hp2 HG01192.hp2 others(6): Show HG00140.hp1 HG01081.hp2 HG01192.hp2 HG01243.hp2 HG01346.hp1 HG02300.hp1 HG02738.hp1 HG04115.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 others(6): Show a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193	9	334	0.0270	49	c.439 others(66): Show c.439-1002_439-1001insAATATATAAATATGATATATATCTATAT ATATCATATATAAATATATAT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP3_chr1_108741674_108814523	108771719	T T	TATATAAA others(42): Show TATATAAATATATATGATATATATCTATATATCATATATAAATATATATG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp1 HG00741.hp1 others(15): Show HG00280.hp2 HG00735.hp1 HG00741.hp1 HG01516.hp1 HG01891.hp2 HG02074.hp2 HG02109.hp1 HG02257.hp1 HG02451.hp1 HG02886.hp1 HG03130.hp2 HG03139.hp2 HG03239.hp1 HG03486.hp1 NA18952.hp1 NA18998.hp2 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0161 a0001c0001t0001g0164 others(12): Show a0001c0001t0001g0002 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0195	18	334	0.0539	49	c.439 others(64): Show c.439-944_439-943insATAAATATATATGATATATATCTATATATC ATATATAAATATATATGAT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP3_chr1_108741674_108814523	108771727	T T	TATATATA others(42): Show TATATATATAATATATAAATATGATATATATCTATATATATCATATATAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	334	0.0030	49	c.439 others(64): Show c.439-930_439-929insAATATATAAATATGATATATATCTATATAT ATCATATATAAATATATAT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar

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