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
S1PR4_chr19_3173769_3185332	3175245	GCCCTCAT others(109): Show GCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGG ACACCTGTGTTCTCACGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTC TCATGGGACGCCTGTGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG03669.hp1 others(1): Show HG01070.hp2 HG01071.hp2 HG03669.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	416	0.0096	-116	c.-35 others(11): Show c.-3547_-3432del	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		3523		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3175651	TCTCATGG others(109): Show TCTCATGGGATGCCTGTGCCCCTCATGGGATGCCTGTGCCCTCATGGGAC GCCTGCATTCTCATGGGACACCTGTGCCCTCATGGGATGCCTGTACCCTC ATGGGACGCCTGTGCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02523.hp2 NA18963.hp1 others(1): Show HG02071.hp1 HG02523.hp2 NA18963.hp1 NA19081.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0007c0009t0001 a0001c0001t0001 a0007c0009t0001	a0001c0001t0001g0000 a0007c0009t0001g0000 a0001c0001t0001g0000 a0007c0009t0001g0000	4	378	0.0106	-116	c.-31 others(11): Show c.-3141_-3026del	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		3117		chr19	TogoVar
SCAMP5_chr15_74990563_75026495	74990994	CTCTTTCT others(109): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 NA18972.hp1 HG01993.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0037 a0001c0001t0003g0239 a0001c0001t0001g0037 a0001c0001t0003g0239	2	195	0.0103	-116	c.-47 others(11): Show c.-4727_-4612del	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4568		chr15	TogoVar
SCN9A_chr2_166190185_166380944	166201428	CTATATAT others(109): Show CTATATATAGTATAGAGTATGCGTATACTATATATATAGTATAGAGTATG CGTATACTATATATATAGTATAGAGTATGCGTATACTATATATATAGTAT AGAGTATGCGTATACTA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp2 HG01167.hp1 others(49): Show HG00642.hp2 HG01081.hp2 HG01167.hp1 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG02040.hp2 HG02071.hp1 HG02109.hp2 HG02129.hp1 HG02155.hp2 HG02258.hp2 HG02293.hp2 HG02523.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03225.hp2 HG03453.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18939.hp1 NA18946.hp2 NA18960.hp2 NA18977.hp1 NA18981.hp2 NA18994.hp2 NA19082.hp1 NA19240.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0010 a0013 a0014 a0019 a0021 a0024	a0001c0002 a0001c0003 a0001c0005 others(26): Show a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0011 a0001c0018 a0002c0020 a0002c0036 a0002c0061 a0002c0067 a0003c0013 a0003c0014 a0003c0028 a0003c0033 a0003c0052 a0003c0060 a0003c0064 a0004c0008 a0004c0024 a0005c0016 a0005c0027 a0005c0068 a0010c0048 a0010c0062 a0013c0032 a0014c0031 a0019c0039 a0021c0043 a0024c0046	a0001c0002t0006 a0001c0003t0002 a0001c0003t0006 others(32): Show a0001c0002t0006 a0001c0003t0002 a0001c0003t0006 a0001c0003t0012 a0001c0003t0013 a0001c0005t0002 a0001c0005t0012 a0001c0007t0012 a0001c0011t0006 a0001c0011t0018 a0001c0018t0034 a0002c0020t0007 a0002c0036t0007 a0002c0061t0007 a0002c0067t0007 a0003c0013t0003 a0003c0014t0003 a0003c0028t0003 a0003c0033t0003 a0003c0052t0003 a0003c0060t0003 a0003c0064t0003 a0004c0008t0022 a0004c0024t0002 a0005c0016t0003 a0005c0027t0003 a0005c0027t0020 a0005c0068t0003 a0010c0048t0003 a0010c0062t0003 a0013c0032t0013 a0014c0031t0006 a0019c0039t0003 a0021c0043t0007 a0024c0046t0018	a0001c0002t0006g0269 a0001c0003t0002g0205 a0001c0003t0006g0078 others(49): Show a0001c0002t0006g0269 a0001c0003t0002g0205 a0001c0003t0006g0078 a0001c0003t0006g0274 a0001c0003t0006g0275 a0001c0003t0012g0261 a0001c0003t0013g0289 a0001c0005t0002g0074 a0001c0005t0012g0022 a0001c0007t0012g0018 a0001c0011t0006g0194 a0001c0011t0018g0021 a0001c0018t0034g0290 a0002c0020t0007g0207 a0002c0020t0007g0257 a0002c0020t0007g0287 a0002c0036t0007g0240 a0002c0061t0007g0161 a0002c0067t0007g0028 a0003c0013t0003g0158 a0003c0013t0003g0159 a0003c0013t0003g0160 a0003c0013t0003g0216 a0003c0014t0003g0054 a0003c0014t0003g0055 a0003c0014t0003g0066 a0003c0014t0003g0085 a0003c0028t0003g0053 a0003c0028t0003g0059 a0003c0033t0003g0220 a0003c0033t0003g0230 a0003c0052t0003g0130 a0003c0060t0003g0273 a0003c0064t0003g0039 a0004c0008t0022g0010 a0004c0024t0002g0193 a0005c0016t0003g0214 a0005c0016t0003g0221 a0005c0016t0003g0222 a0005c0016t0003g0225 a0005c0027t0003g0119 a0005c0027t0020g0005 a0005c0068t0003g0224 a0010c0048t0003g0234 a0010c0062t0003g0062 a0013c0032t0013g0082 a0013c0032t0013g0183 a0014c0031t0006g0191 a0014c0031t0006g0192 a0019c0039t0003g0268 a0021c0043t0007g0277 a0024c0046t0018g0019	52	293	0.1775	-116	c.477 others(19): Show c.4775-1680_4775-1565del	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	26/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166201536	CGTATACT others(109): Show CGTATACTATATATATAGTATAGAGTATGCGTATACTATATATATAGTAT AGAGTATGCGTATACTATATATATAGTATAGAGTATGCGTATACTATATA TATAGTATAGAGTATGT	C C	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0266 a0001c0007t0001g0266	1	294	0.0034	-116	c.477 others(19): Show c.4775-1788_4775-1673del	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	26/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166201537	GTATACTA others(109): Show GTATACTATATATATAGTATAGAGTATGCGTATACTATATATATAGTATA GAGTATGCGTATACTATATATATAGTATAGAGTATGCGTATACTATATAT ATAGTATAGAGTATGTA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(137): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp1 HG01175.hp2 HG01256.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG06807.hp2 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18993.hp1 NA18994.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19005.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19086.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0004 a0006 others(11): Show a0001 a0004 a0006 a0008 a0009 a0011 a0012 a0015 a0018 a0020 a0022 a0025 a0026 a0029	a0001c0001 a0001c0002 a0001c0003 others(29): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0011 a0001c0012 a0001c0017 a0001c0018 a0001c0030 a0001c0054 a0001c0063 a0004c0008 a0004c0024 a0004c0038 a0006c0010 a0008c0021 a0008c0044 a0009c0023 a0011c0040 a0011c0041 a0012c0025 a0015c0035 a0015c0045 a0018c0056 a0020c0053 a0022c0047 a0025c0050 a0026c0042 a0029c0065	a0001c0001t0001 a0001c0001t0005 a0001c0001t0030 others(49): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0030 a0001c0002t0001 a0001c0002t0005 a0001c0002t0016 a0001c0002t0021 a0001c0003t0001 a0001c0003t0002 a0001c0003t0014 a0001c0003t0026 a0001c0004t0001 a0001c0004t0005 a0001c0004t0032 a0001c0005t0001 a0001c0006t0001 a0001c0006t0005 a0001c0007t0001 a0001c0007t0005 a0001c0007t0024 a0001c0011t0001 a0001c0011t0005 a0001c0011t0009 a0001c0012t0001 a0001c0012t0014 a0001c0017t0001 a0001c0018t0005 a0001c0018t0033 a0001c0030t0005 a0001c0054t0001 a0001c0063t0029 a0004c0008t0001 a0004c0008t0011 a0004c0008t0019 a0004c0024t0011 a0004c0024t0016 a0004c0038t0009 a0006c0010t0001 a0008c0021t0001 a0008c0044t0001 a0009c0023t0009 a0011c0040t0001 a0011c0041t0011 a0012c0025t0001 a0015c0035t0005 a0015c0045t0005 a0018c0056t0001 a0020c0053t0001 a0022c0047t0005 a0025c0050t0001 a0026c0042t0001 a0029c0065t0001	a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0042 others(136): Show a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0143 a0001c0001t0001g0156 a0001c0001t0001g0180 a0001c0001t0001g0186 a0001c0001t0005g0037 a0001c0001t0030g0164 a0001c0002t0001g0017 a0001c0002t0001g0091 a0001c0002t0001g0099 a0001c0002t0001g0115 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0125 a0001c0002t0001g0128 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0175 a0001c0002t0001g0184 a0001c0002t0001g0188 a0001c0002t0001g0195 a0001c0002t0001g0232 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0250 a0001c0002t0001g0280 a0001c0002t0005g0107 a0001c0002t0005g0255 a0001c0002t0005g0256 a0001c0002t0016g0199 a0001c0002t0021g0011 a0001c0003t0001g0092 a0001c0003t0001g0094 a0001c0003t0001g0133 a0001c0003t0001g0162 a0001c0003t0001g0208 a0001c0003t0001g0213 a0001c0003t0001g0217 a0001c0003t0001g0218 a0001c0003t0001g0219 a0001c0003t0001g0238 a0001c0003t0001g0254 a0001c0003t0001g0258 a0001c0003t0001g0278 a0001c0003t0001g0279 a0001c0003t0001g0286 a0001c0003t0002g0079 a0001c0003t0014g0009 a0001c0003t0026g0231 a0001c0004t0001g0134 a0001c0004t0001g0136 a0001c0004t0001g0137 a0001c0004t0001g0138 a0001c0004t0001g0139 a0001c0004t0001g0141 a0001c0004t0001g0142 a0001c0004t0001g0148 a0001c0004t0001g0167 a0001c0004t0001g0247 a0001c0004t0005g0050 a0001c0004t0032g0202 a0001c0005t0001g0026 a0001c0005t0001g0070 a0001c0005t0001g0086 a0001c0005t0001g0089 a0001c0005t0001g0106 a0001c0005t0001g0144 a0001c0005t0001g0153 a0001c0005t0001g0223 a0001c0006t0001g0150 a0001c0006t0001g0171 a0001c0006t0001g0172 a0001c0006t0001g0246 a0001c0006t0005g0147 a0001c0007t0001g0030 a0001c0007t0001g0060 a0001c0007t0005g0073 a0001c0007t0005g0259 a0001c0007t0005g0260 a0001c0007t0024g0051 a0001c0011t0001g0129 a0001c0011t0005g0045 a0001c0011t0009g0027 a0001c0012t0001g0264 a0001c0012t0014g0006 a0001c0017t0001g0127 a0001c0017t0001g0288 a0001c0018t0005g0097 a0001c0018t0033g0291 a0001c0030t0005g0270 a0001c0030t0005g0271 a0001c0054t0001g0016 a0001c0063t0029g0049 a0004c0008t0001g0198 a0004c0008t0001g0203 a0004c0008t0001g0204 a0004c0008t0001g0276 a0004c0008t0011g0206 a0004c0008t0019g0002 a0004c0024t0011g0190 a0004c0024t0016g0020 a0004c0038t0009g0281 a0006c0010t0001g0100 a0006c0010t0001g0110 a0006c0010t0001g0114 a0006c0010t0001g0249 a0008c0021t0001g0001 a0008c0021t0001g0262 a0008c0044t0001g0182 a0009c0023t0009g0023 a0009c0023t0009g0024 a0009c0023t0009g0025 a0011c0040t0001g0176 a0011c0041t0011g0177 a0012c0025t0001g0080 a0012c0025t0001g0181 a0015c0035t0005g0292 a0015c0045t0005g0197 a0018c0056t0001g0126 a0020c0053t0001g0209 a0022c0047t0005g0072 a0025c0050t0001g0210 a0026c0042t0001g0226 a0029c0065t0001g0029	140	294	0.4762	-116	c.477 others(19): Show c.4775-1789_4775-1674del	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	26/26			chr2	TogoVar
SCUBE1_chr22_43192280_43348372	43281339	CTCCTCAG others(109): Show CTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTC CTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGG CCACCCTCCTGTCATCT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02004.hp2 HG02015.hp1 others(3): Show HG00558.hp1 HG02004.hp2 HG02015.hp1 HG04228.hp2 NA18950.hp1 NA18966.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0017	a0001c0013 a0002c0002 a0002c0005 others(2): Show a0001c0013 a0002c0002 a0002c0005 a0006c0015 a0017c0049	a0001c0013t0005 a0002c0002t0023 a0002c0005t0001 others(3): Show a0001c0013t0005 a0002c0002t0023 a0002c0005t0001 a0002c0005t0046 a0006c0015t0007 a0017c0049t0045	a0001c0013t0005g0098 a0002c0002t0023g0176 a0002c0005t0001g0183 others(3): Show a0001c0013t0005g0098 a0002c0002t0023g0176 a0002c0005t0001g0183 a0002c0005t0046g0127 a0006c0015t0007g0084 a0017c0049t0045g0196	6	276	0.0217	-116	c.484 others(17): Show c.484+9591_484+9706del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281340	TCCTCAGT others(109): Show TCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCC TCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGC CACCCTCCTGTCATCTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG01081.hp2 others(5): Show HG00099.hp2 HG00735.hp1 HG01081.hp2 HG02055.hp1 HG03098.hp2 HG03239.hp1 HG03704.hp2 NA19068.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0010 a0001c0044 others(2): Show a0001c0003 a0001c0010 a0001c0044 a0002c0002 a0003c0007	a0001c0003t0003 a0001c0010t0031 a0001c0044t0033 others(5): Show a0001c0003t0003 a0001c0010t0031 a0001c0044t0033 a0002c0002t0002 a0002c0002t0010 a0002c0002t0062 a0002c0002t0089 a0003c0007t0001	a0001c0003t0003g0089 a0001c0010t0031g0006 a0001c0044t0033g0211 others(5): Show a0001c0003t0003g0089 a0001c0010t0031g0006 a0001c0044t0033g0211 a0002c0002t0002g0151 a0002c0002t0010g0112 a0002c0002t0062g0184 a0002c0002t0089g0278 a0003c0007t0001g0190	8	275	0.0291	-116	c.484 others(17): Show c.484+9590_484+9705del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SDK1_chr7_3296252_4274000	4194294	GTATGTGT others(109): Show GTATGTGTATACATGTATACATATATGTATGCACGTATGTGTATACATGT ATAGATATATGTATGCACGTATGTGTATACATGTATGTGTATACATGTAT ACATATATGTATGCACA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01175.hp2 HG01891.hp2 others(13): Show HG00408.hp2 HG01175.hp2 HG01891.hp2 HG02145.hp2 HG02258.hp2 HG02451.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp2 HG02922.hp2 HG02965.hp2 HG03139.hp1 HG03491.hp1 HG03516.hp1 NA20129.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0018 a0022 a0026 a0027 a0035	a0001c0010 a0001c0011 a0001c0017 others(12): Show a0001c0010 a0001c0011 a0001c0017 a0001c0031 a0001c0067 a0001c0092 a0002c0013 a0002c0053 a0003c0033 a0005c0065 a0018c0024 a0022c0094 a0026c0028 a0027c0089 a0035c0073	a0001c0010t0060 a0001c0011t0008 a0001c0017t0011 others(12): Show a0001c0010t0060 a0001c0011t0008 a0001c0017t0011 a0001c0031t0001 a0001c0067t0068 a0001c0092t0048 a0002c0013t0015 a0002c0053t0067 a0003c0033t0002 a0005c0065t0037 a0018c0024t0061 a0022c0094t0025 a0026c0028t0049 a0027c0089t0047 a0035c0073t0001	a0001c0010t0060g0017 a0001c0011t0008g0028 a0001c0017t0011g0051 others(13): Show a0001c0010t0060g0017 a0001c0011t0008g0028 a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0031t0001g0018 a0001c0067t0068g0001 a0001c0092t0048g0057 a0002c0013t0015g0024 a0002c0053t0067g0034 a0003c0033t0002g0103 a0005c0065t0037g0065 a0018c0024t0061g0013 a0022c0094t0025g0049 a0026c0028t0049g0035 a0027c0089t0047g0056 a0035c0073t0001g0016	16	116	0.1379	-116	c.509 others(21): Show c.5099-11565_5099-11450del	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	35/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SH3RF3_chr2_109124205_109509634	109461405	AAGGCCCC others(109): Show AAGGCCCCACGTAGCATCCCTGTCTGTCCTAAAGACCTGCGCGGTGATCC ACCTGCCAGAGGCCCCACGTAGCATCCCTGTCTGTCCTAAAGACCTGCGC GGTGATCCACCTGCCAG	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	166	0.0060	-116	c.214 others(21): Show c.2148+12116_2148+12231del	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHC2_chr19_411589_466033	431607	GGCGCTTC others(109): Show GGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCGGGGC AGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGA GGCCGGGCAGATAGATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0015 a0001c0005t0001g0015	1	207	0.0048	-116	c.111 others(17): Show c.1111-976_1111-861del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	431996	GGGGCAGA others(109): Show GGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATA GAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGT GAGAGATAGAGGAGGCC	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0052 a0001c0001t0006g0052	1	187	0.0053	-116	c.111 others(19): Show c.1111-1365_1111-1250del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHOC1_chr9_111681171_111799937	111791752	GTAACCAT others(109): Show GTAACCATATTTCTCAAGTGGTCTTGAGAATAACCATATTTCTCAAGTGG TCTTGAGAATAACCATATTTCTCAAGTGGTCTTGAGAATAACCATATTTC TCAAGTGGTCTTGAGAA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03239.hp1 HG01192.hp2 HG03239.hp1	a0002 a0017 a0002 a0017	a0002c0007 a0017c0016 a0002c0007 a0017c0016	a0002c0007t0008 a0017c0016t0002 a0002c0007t0008 a0017c0016t0002	a0002c0007t0008g0019 a0017c0016t0002g0081 a0002c0007t0008g0019 a0017c0016t0002g0081	2	52	0.0385	-116	c.-36 others(15): Show c.-36-414_-36-299del	SHOC1	ENSG00000165181.17	transcript	ENST00000682961.1	protein_coding	1/27			chr9	TogoVar
SIGIRR_chr11_400716_419999	402227	CACCCCGG others(109): Show CACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCT CCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCC GGCCCCGCTCACCCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	240	0.0042	-116	c.35 others(11): Show c.3553_*3668del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3488		chr11	TogoVar
SIPA1L2_chr1_232392965_232635133	232415836	GAGTCAGT others(109): Show GAGTCAGTCAGAACACGGGCACCACTGTCCCTCCCAGAGTCAGTCAGAAC ACGGGCACCACTGTCCCTCCCAGAGTCAGTCAGTCAGAACACGGGCACCA CTGCCCCTCCCAGAGTC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG04184.hp1 NA20805.hp2 HG00323.hp1 HG04184.hp1 NA20805.hp2	a0001 a0013 a0001 a0013	a0001c0002 a0013c0061 a0001c0002 a0013c0061	a0001c0002t0002 a0013c0061t0002 a0001c0002t0002 a0013c0061t0002	a0001c0002t0002g0044 a0001c0002t0002g0068 a0013c0061t0002g0063 a0001c0002t0002g0044 a0001c0002t0002g0068 a0013c0061t0002g0063	3	290	0.0103	-116	c.463 others(17): Show c.4631-327_4631-212del	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	18/22			chr1	TogoVar
SIPA1L2_chr1_232392965_232635133	232415939	CCCCTCCC others(109): Show CCCCTCCCAGAGTCAGTCAGTCAGAACACGGGCACCACTGTCCCTCCCAG AGTCAGTCAGAACACGGGCACCACTGTCCCTCCCAGAGTCAGTCAGTCAG AACACGGGCACCACTGT	C C	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18998.hp1 NA18985.hp1 NA18998.hp1	a0001 a0001	a0001c0026 a0001c0030 a0001c0026 a0001c0030	a0001c0026t0003 a0001c0030t0001 a0001c0026t0003 a0001c0030t0001	a0001c0026t0003g0255 a0001c0030t0001g0101 a0001c0026t0003g0255 a0001c0030t0001g0101	2	235	0.0085	-116	c.463 others(17): Show c.4631-430_4631-315del	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	18/22			chr1	TogoVar
SLC45A3_chr1_205652851_205685509	205682686	TCTCTACT others(109): Show TCTCTACTAAAAATACAAAAATTAGCTGGTTATGGTGGTGCGCACCTGTA ATCCCAGCTACCAGGGAGGCTGAGGCAGGAGAATGGCTTGAACCTAGGAG GCGGAGGTTGCAGTGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0222 a0001c0004t0022g0222	1	402	0.0025	-116	c.-26 others(11): Show c.-2639_-2524del	SLC45A3	ENSG00000158715.6	transcript	ENST00000367145.4	protein_coding		2178		chr1	TogoVar
SLC66A2_chr18_79897420_79956653	79919739	ACAGGAAC others(109): Show ACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAG TGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGG GTCAGAGGAGGAGAGAC	A A	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	303	0.0033	-116	c.392 others(15): Show c.392-455_392-340del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79919740	CAGGAACC others(109): Show CAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGT GAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGG TCAGAGGAGGAGAGACA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03516.hp1 HG02976.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0175 a0001c0001t0007g0281 a0001c0001t0007g0175 a0001c0001t0007g0281	2	288	0.0069	-116	c.392 others(15): Show c.392-456_392-341del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79919777	ACAGGAAC others(109): Show ACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAG GGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGTGAGAGGTCAG GGTCAGTGAGGAGAGAC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02027.hp1 HG02071.hp2 others(14): Show HG00558.hp2 HG02027.hp1 HG02071.hp2 HG02135.hp1 HG02155.hp1 HG03834.hp2 HG04184.hp1 NA18939.hp2 NA18960.hp2 NA18972.hp2 NA18981.hp1 NA18994.hp1 NA18998.hp1 NA19012.hp2 NA19063.hp1 NA19064.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0016 others(1): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0016 a0001c0001t0022	a0001c0001t0003g0010 a0001c0001t0003g0290 a0001c0001t0003g0291 others(13): Show a0001c0001t0003g0010 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0293 a0001c0001t0003g0297 a0001c0001t0003g0301 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0311 a0001c0001t0003g0317 a0001c0001t0003g0330 a0001c0001t0003g0332 a0001c0001t0012g0292 a0001c0001t0012g0327 a0001c0001t0016g0031 a0001c0001t0022g0334	17	288	0.0590	-116	c.392 others(15): Show c.392-493_392-378del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920502	ACAGGAAC others(109): Show ACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAG TGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGG GTCAGAGGAGGAGAGAC	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0212 a0001c0001t0008g0212	1	340	0.0029	-116	c.392 others(17): Show c.392-1218_392-1103del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920875	TGAGGAGA others(109): Show TGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGAC AGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGG AGAGGTCAGGGTCAGAG	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00733.hp1 HG01175.hp2 others(16): Show HG00558.hp2 HG00733.hp1 HG01175.hp2 HG02027.hp1 HG02071.hp2 HG02135.hp1 HG02155.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp1 NA18612.hp2 NA18939.hp2 NA18960.hp2 NA18972.hp2 NA18975.hp2 NA18981.hp1 NA19012.hp2 NA19063.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0020 others(1): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0020 a0001c0001t0022	a0001c0001t0003g0010 a0001c0001t0003g0289 a0001c0001t0003g0290 others(16): Show a0001c0001t0003g0010 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0293 a0001c0001t0003g0297 a0001c0001t0003g0301 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0311 a0001c0001t0003g0322 a0001c0001t0003g0330 a0001c0001t0003g0332 a0001c0001t0003g0335 a0001c0001t0012g0292 a0001c0001t0012g0326 a0001c0001t0012g0327 a0001c0001t0020g0195 a0001c0001t0022g0334	19	338	0.0562	-116	c.392 others(17): Show c.392-1591_392-1476del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920908	GTCAGAGG others(109): Show GTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGA GAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAAC CGAGGGAGAGGTCAAGC	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0277 a0001c0001t0007g0277	1	338	0.0030	-116	c.392 others(17): Show c.392-1624_392-1509del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921152	CAGGAACC others(109): Show CAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACGGGAACCGAG GGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAG GTCAGTGAGGAGAGACG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp2 HG02056.hp2 HG00408.hp2 HG00621.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0002 a0001c0001t0001g0080 a0001c0001t0001g0082	3	275	0.0109	-116	c.392 others(17): Show c.392-1868_392-1753del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921420	CAGGAACC others(109): Show CAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGG GAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAG GTCAGTGAGGAGAGACG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0166 a0001c0001t0010g0166	1	286	0.0035	-116	c.392 others(17): Show c.392-2136_392-2021del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SORCS2_chr4_7187538_7747827	7442280	CTCCACCC others(109): Show CTCCACCCCCTCCCTGAGCCCAGATCACCCTCCACCCCCTCCCCCATCCC AGATCACCCTCTACCCCCTCTCCCAGCCCAGGTCGTCATCCACCTCCTCT CACAGCCCAGGTCACCA	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02258.hp2 HG02647.hp2 others(4): Show HG01934.hp2 HG02258.hp2 HG02647.hp2 HG02886.hp2 HG02970.hp1 HG03453.hp1 NA18906.hp2	a0001 a0003 a0013 a0001 a0003 a0013	a0001c0001 a0001c0002 a0001c0010 others(4): Show a0001c0001 a0001c0002 a0001c0010 a0001c0029 a0001c0038 a0003c0012 a0013c0055	a0001c0001t0054 a0001c0002t0003 a0001c0010t0060 others(4): Show a0001c0001t0054 a0001c0002t0003 a0001c0010t0060 a0001c0029t0061 a0001c0038t0032 a0003c0012t0046 a0013c0055t0006	a0001c0001t0054g0007 a0001c0002t0003g0082 a0001c0010t0060g0167 others(4): Show a0001c0001t0054g0007 a0001c0002t0003g0082 a0001c0010t0060g0167 a0001c0029t0061g0162 a0001c0038t0032g0128 a0003c0012t0046g0033 a0013c0055t0006g0150	7	110	0.0636	-116	c.548 others(19): Show c.548+45939_548+46054del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7442294	TGAGCCCA others(109): Show TGAGCCCAGATCACCCTCCACCCCCTCCCCCATCCCAGATCACCCTCTAC CCCCTCTCCCAGCCCAGGTCGTCATCCACCTCCTCTCACAGCCCAGGTCA CCATCCACCCCCTCCCC	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG01175.hp2 others(6): Show HG00639.hp1 HG00642.hp1 HG01175.hp2 HG02717.hp2 HG03017.hp2 HG03492.hp2 HG03540.hp1 HG04115.hp2 NA19066.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0049 a0002c0004 a0004c0043	a0001c0001t0003 a0001c0002t0011 a0001c0002t0021 others(6): Show a0001c0001t0003 a0001c0002t0011 a0001c0002t0021 a0001c0003t0014 a0001c0005t0001 a0001c0006t0003 a0001c0049t0001 a0002c0004t0005 a0004c0043t0031	a0001c0001t0003g0138 a0001c0002t0011g0112 a0001c0002t0021g0090 others(6): Show a0001c0001t0003g0138 a0001c0002t0011g0112 a0001c0002t0021g0090 a0001c0003t0014g0140 a0001c0005t0001g0156 a0001c0006t0003g0117 a0001c0049t0001g0059 a0002c0004t0005g0110 a0004c0043t0031g0058	9	64	0.1406	-116	c.548 others(19): Show c.548+45939_548+46054del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26			chr4	TogoVar
SPAG9_chr17_50957174_51125868	51076985	TCTAGCTA others(109): Show TCTAGCTATCTAGCTATCTAGCTAGCTAGCTAGCTATCTAGCTATCTATC TAGCTATCTAGCTATCTAGCTAGCTATCTAGCTAGCTATCTAGCTATCTA GCTAGCTATCTATCTAG	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA21309.hp1 HG03041.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0195 a0002c0003t0011g0196 a0002c0003t0011g0195 a0002c0003t0011g0196	2	289	0.0069	-116	c.424 others(17): Show c.424+2483_424+2598del	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SSU72L1_chr11_4333245_4344345	4334833	GTTTCCAG others(109): Show GTTTCCAGACGGGGTAGCGGCCGGGCAGAAGCGCTATTCACATCTCAGAT TGGGCGGCTGTGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGCCAG GCAGAGACGCTCCTCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA20905.hp2 NA19068.hp2 NA20905.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0009 a0006c0007t0009	a0006c0007t0009g0000 a0006c0007t0009g0000	2	340	0.0059	-116	c.37 others(11): Show c.3711_*3826del	SSU72L1	ENSG00000284438.2	transcript	ENST00000524542.3	protein_coding		3411		chr11	TogoVar
SSU72L3_chr11_4324790_4335864	4334833	GTTTCCAG others(109): Show GTTTCCAGACGGGGTAGCGGCCGGGCAGAAGCGCTATTCACATCTCAGAT TGGGCGGCTGTGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGCCAG GCAGAGACGCTCCTCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02155.hp2 HG02615.hp2 others(2): Show HG02080.hp2 HG02155.hp2 HG02615.hp2 NA19007.hp2 NA20905.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0006 a0007c0007t0006	a0007c0007t0006g0000 a0007c0007t0006g0000	5	338	0.0148	-116	c.43 others(11): Show c.4385_*4500del	SSU72L3	ENSG00000284546.2	transcript	ENST00000640302.2	protein_coding		3970		chr11	TogoVar
STK38L_chr12_27239286_27330959	27241006	TTATATAT others(109): Show TTATATATATTACATATATGACTATGTATAGTTATATATATTACATATAT GACTCTGTATAGTTATATATATTACATATATGACTCTGTATAGTTATATA TATTACATATATGACTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0055	1	371	0.0027	-116	c.-33 others(11): Show c.-3337_-3222del	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		3279		chr12	TogoVar
STK38L_chr12_27239286_27330959	27241037	TTATATAT others(109): Show TTATATATATTACATATATGACTCTGTATAGTTATATATATTACATATAT GACTCTGTATAGTTATATATATTACATATATGACTCTGTATAGTTATATA TATTACATATATGACTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 NA18942.hp1 NA18967.hp1 others(3): Show HG00609.hp2 NA18942.hp1 NA18967.hp1 NA18979.hp1 NA18992.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0002 a0001c0001t0003g0009 a0001c0001t0003g0020 others(3): Show a0001c0001t0002g0002 a0001c0001t0003g0009 a0001c0001t0003g0020 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0077	6	325	0.0185	-116	c.-33 others(11): Show c.-3306_-3191del	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		3248		chr12	TogoVar
SYNPR_chr3_63273308_63621924	63313860	CATATATA others(109): Show CATATATATATATCCATATATATATCCATATATATATATCCATATATATA TCCATATATATATATATCCATATATATATATATCCATATATATATATATC CATATATATATATCCAT	C C	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	217	0.0046	-116	c.84+ others(17): Show c.84+35143_84+35258del	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TAF13_chr1_109059140_109081003	109071957	AATATATA others(109): Show AATATATATATATATATATACACACATATATATATATATATATATATATA TATATATACACACACATATATATATATATATATATATACACACACATATA TATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02698.hp2 HG03831.hp2 HG01934.hp2 HG02698.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	3	192	0.0156	-116	c.106 others(17): Show c.106+2914_106+3029del	TAF13	ENSG00000197780.11	transcript	ENST00000338366.6	protein_coding	2/3			chr1	TogoVar
TBCD_chr17_82747065_82950914	82925903	TGGCCGTG others(109): Show TGGCCGTGGAGAGGCTGGAGGTGACCTCTCCCCGGGTGTCCTTCCTGGGT TGTACTGGGGGCCGTGGAGAGGCTGGAGGTGACCTCTCCCCGGGTGTCCT TCCTGGGTTGTACTGGG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00735.hp1 others(15): Show HG00423.hp1 HG00558.hp1 HG00735.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01884.hp2 HG02071.hp1 HG02132.hp2 HG02280.hp1 NA19010.hp2 NA19056.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0009 a0001c0044 others(2): Show a0001c0001 a0001c0009 a0001c0044 a0002c0003 a0004c0005	a0001c0001t0002 a0001c0001t0025 a0001c0009t0008 others(5): Show a0001c0001t0002 a0001c0001t0025 a0001c0009t0008 a0001c0044t0014 a0002c0003t0003 a0004c0005t0001 a0004c0005t0004 a0004c0005t0031	a0001c0001t0002g0046 a0001c0001t0002g0060 a0001c0001t0002g0306 others(15): Show a0001c0001t0002g0046 a0001c0001t0002g0060 a0001c0001t0002g0306 a0001c0001t0025g0020 a0001c0009t0008g0091 a0001c0044t0014g0110 a0002c0003t0003g0296 a0002c0003t0003g0310 a0004c0005t0001g0029 a0004c0005t0001g0106 a0004c0005t0001g0108 a0004c0005t0001g0114 a0004c0005t0001g0118 a0004c0005t0001g0120 a0004c0005t0001g0122 a0004c0005t0004g0125 a0004c0005t0004g0126 a0004c0005t0031g0119	18	126	0.1429	-116	c.238 others(17): Show c.2380-384_2380-269del	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	27/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82926016	TGGGGGCC others(109): Show TGGGGGCCGTGGAGAGGCTGGAGGTGACCTCTCCCCGGGTGTCCTTCCTG GGTTGTACTGGGGGCCGTGGAGAGGCTGGAGGTGACCTCTCCCCGGGTGT CCTTCCTGGGTTGTACC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01074.hp1 HG01167.hp1 others(9): Show HG00673.hp2 HG01074.hp1 HG01167.hp1 HG02027.hp1 HG02258.hp2 HG02976.hp2 HG03139.hp2 NA18747.hp1 NA18954.hp1 NA18970.hp1 NA19004.hp2 NA19043.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0009 a0002c0010 others(2): Show a0001c0002 a0001c0009 a0002c0010 a0002c0026 a0004c0005	a0001c0002t0034 a0001c0002t0045 a0001c0009t0008 others(3): Show a0001c0002t0034 a0001c0002t0045 a0001c0009t0008 a0002c0010t0008 a0002c0026t0008 a0004c0005t0001	a0001c0002t0034g0104 a0001c0002t0045g0103 a0001c0009t0008g0034 others(9): Show a0001c0002t0034g0104 a0001c0002t0045g0103 a0001c0009t0008g0034 a0001c0009t0008g0056 a0001c0009t0008g0123 a0002c0010t0008g0168 a0002c0026t0008g0235 a0004c0005t0001g0087 a0004c0005t0001g0089 a0004c0005t0001g0100 a0004c0005t0001g0102 a0004c0005t0001g0124	12	298	0.0403	-116	c.238 others(17): Show c.2380-356_2380-241del	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	27/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82926045	TCTCCCCG others(109): Show TCTCCCCGGGTGTCCTTCCTGGGTTGTACTGGGGGCCGTGGAGAGGCTGG AGGTGACCTCTCCCCGGGTGTCCTTCCTGGGTTGTACCGGGGGCCGTGGA GAGGCTGGAGGTGACTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01167.hp2 HG01169.hp2 others(17): Show HG00140.hp1 HG01167.hp2 HG01169.hp2 HG01361.hp2 HG02055.hp1 HG02109.hp1 HG02257.hp1 HG02451.hp2 HG02630.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03579.hp1 HG04204.hp1 NA19030.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0002 a0002c0007 a0002c0008 others(2): Show a0001c0002 a0002c0007 a0002c0008 a0002c0023 a0008c0048	a0001c0002t0001 a0001c0002t0002 a0001c0002t0022 others(5): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0022 a0002c0007t0035 a0002c0008t0007 a0002c0008t0019 a0002c0023t0037 a0008c0048t0017	a0001c0002t0001g0245 a0001c0002t0001g0264 a0001c0002t0001g0280 others(17): Show a0001c0002t0001g0245 a0001c0002t0001g0264 a0001c0002t0001g0280 a0001c0002t0002g0052 a0001c0002t0022g0135 a0002c0007t0035g0004 a0002c0008t0007g0140 a0002c0008t0007g0142 a0002c0008t0007g0143 a0002c0008t0007g0145 a0002c0008t0007g0146 a0002c0008t0007g0147 a0002c0008t0007g0154 a0002c0008t0007g0156 a0002c0008t0007g0157 a0002c0008t0007g0158 a0002c0008t0007g0159 a0002c0008t0019g0153 a0002c0023t0037g0003 a0008c0048t0017g0174	20	294	0.0680	-116	c.238 others(17): Show c.2380-267_2380-152del	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	27/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TECTA_chr11_121096243_121196490	121114870	TACCCATT others(109): Show TACCCATTCACCCACTCATCCACCTACCCATCCATCCATTCATCCGTCCA CCCATTCACCAACCTATCCATCCACCTACCCACCCACCCATTCACCCACC CATCCATTTATCCATCC	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0023 a0023	a0023c0029 a0023c0029	a0023c0029t0001 a0023c0029t0001	a0023c0029t0001g0086 a0023c0029t0001g0086	1	346	0.0029	-116	c.790 others(17): Show c.790+1308_790+1423del	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TEC_chr4_48130783_48274838	48186314	ACCCATCG others(109): Show ACCCATCGTCTGGGATGTGAGGAGCCCCTCTGACCAGCCGCCCAGTCTGG GAAGTGAGGAGCGCCTCTTCCCGGCCGCCATCCCGTCTAGGAAGTGAGGA GTGTCTCTGCCTGGCCG	A A	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0115 a0001c0001t0007g0115	1	344	0.0029	-116	c.139 others(19): Show c.139-10244_139-10129del	TEC	ENSG00000135605.13	transcript	ENST00000381501.8	protein_coding	2/17			chr4	TogoVar
TENM1_chrX_124370903_125209312	124471235	ATATAATA others(109): Show ATATAATATATAATAATATATATTATAATATATAGTACTATATATAATAT ATAGTACTATATATTATAATATATAGTACTATATATTATAATATATAGTA CTATATATAATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	138	0.0072	-116	c.394 others(21): Show c.3949+10381_3949+10496del	TENM1	ENSG00000009694.14	transcript	ENST00000422452.4	protein_coding	25/34			chrX	TogoVar
TERT_chr5_1248167_1300068	1273438	ACACATCA others(109): Show ACACATCAGACCCCTGTGACCGATCGCCATCCACAGTCACCACACATCAG ACCCCCGGGACCAACCGCCATCCACAGTCACCACACATCAGACCCCACGA CCGCCATCCACAGTCAC	A A	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	381	0.0026	-116	c.228 others(19): Show c.2287-1274_2287-1159del	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TLK2_chr17_62473825_62620481	62587952	ATGTATAT others(109): Show ATGTATATGTATAAAATATACGTATACATCTGTATATGTATAAAATATAC GTATACATCTGTATATGTATAAAATATACGTATACATCTGTATATGTATA AAATATACGTATACATC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01255.hp1 HG02622.hp1 others(1): Show HG01243.hp1 HG01255.hp1 HG02622.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0016g0185 others(1): Show a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0016g0185 a0001c0001t0016g0186	4	101	0.0396	-116	c.146 others(19): Show c.1460+1815_1460+1930del	TLK2	ENSG00000146872.19	transcript	ENST00000346027.10	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
TMPRSS13_chr11_117895641_117934402	117926048	GCACACCT others(109): Show GCACACCTGCAGGGGCATAGGGCAGGTGCCAGGGTCCTTGGAGGACGAGG TGAGGGATGCACACCTGCAGAGGCATAGGGCAGGTGCCAGGGTCCTTGGA GGACGAGGTGAGGGCTA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00438.hp2 others(101): Show HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00735.hp1 HG01099.hp1 HG01099.hp2 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01891.hp2 HG01952.hp2 HG01993.hp1 HG02004.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02145.hp2 HG02257.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02647.hp1 HG02683.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp2 HG03139.hp1 HG03239.hp2 HG03453.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03834.hp1 HG06807.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18960.hp2 NA18961.hp2 NA18964.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18993.hp1 NA18994.hp2 NA19000.hp2 NA19004.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19086.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp2 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0011	a0001c0001 a0001c0004 a0001c0007 others(14): Show a0001c0001 a0001c0004 a0001c0007 a0001c0008 a0001c0016 a0001c0017 a0001c0033 a0002c0002 a0002c0003 a0002c0005 a0002c0006 a0002c0014 a0002c0019 a0003c0012 a0003c0013 a0005c0018 a0011c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0021 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0035 a0001c0001t0049 a0001c0004t0007 a0001c0004t0012 a0001c0007t0004 a0001c0007t0033 a0001c0008t0007 a0001c0008t0040 a0001c0016t0004 a0001c0017t0062 a0001c0033t0004 a0002c0002t0002 a0002c0002t0005 a0002c0002t0016 a0002c0003t0004 a0002c0003t0050 a0002c0005t0002 a0002c0005t0005 a0002c0005t0006 a0002c0005t0016 a0002c0005t0023 a0002c0005t0024 a0002c0005t0047 a0002c0006t0002 a0002c0014t0002 a0002c0014t0006 a0002c0019t0017 a0003c0012t0007 a0003c0012t0012 a0003c0013t0003 a0005c0018t0028 a0011c0037t0005	a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0379 others(85): Show a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0379 a0001c0001t0002g0115 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0151 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0188 a0001c0001t0005g0134 a0001c0001t0005g0152 a0001c0001t0006g0119 a0001c0001t0010g0192 a0001c0001t0021g0194 a0001c0001t0025g0153 a0001c0001t0027g0026 a0001c0001t0028g0186 a0001c0001t0035g0189 a0001c0001t0035g0190 a0001c0001t0049g0145 a0001c0004t0007g0203 a0001c0004t0012g0197 a0001c0007t0004g0019 a0001c0007t0004g0021 a0001c0007t0004g0144 a0001c0007t0033g0017 a0001c0008t0007g0187 a0001c0008t0007g0193 a0001c0008t0040g0178 a0001c0008t0040g0195 a0001c0016t0004g0154 a0001c0017t0062g0380 a0001c0033t0004g0147 a0002c0002t0002g0118 a0002c0002t0002g0124 a0002c0002t0002g0132 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0143 a0002c0002t0005g0117 a0002c0002t0016g0116 a0002c0002t0016g0142 a0002c0003t0004g0001 a0002c0003t0004g0020 a0002c0003t0004g0022 a0002c0003t0004g0023 a0002c0003t0004g0025 a0002c0003t0004g0120 a0002c0003t0004g0121 a0002c0003t0004g0122 a0002c0003t0004g0128 a0002c0003t0004g0129 a0002c0003t0004g0133 a0002c0003t0004g0135 a0002c0003t0004g0150 a0002c0003t0004g0155 a0002c0003t0004g0156 a0002c0003t0004g0157 a0002c0003t0004g0161 a0002c0003t0004g0166 a0002c0003t0004g0173 a0002c0003t0004g0174 a0002c0003t0050g0160 a0002c0005t0002g0005 a0002c0005t0002g0123 a0002c0005t0002g0126 a0002c0005t0002g0146 a0002c0005t0002g0158 a0002c0005t0002g0165 a0002c0005t0005g0138 a0002c0005t0006g0137 a0002c0005t0006g0163 a0002c0005t0016g0164 a0002c0005t0023g0149 a0002c0005t0024g0024 a0002c0005t0047g0136 a0002c0006t0002g0131 a0002c0006t0002g0148 a0002c0014t0002g0139 a0002c0014t0006g0159 a0002c0019t0017g0162 a0003c0012t0007g0179 a0003c0012t0012g0181 a0003c0013t0003g0180 a0003c0013t0003g0183 a0005c0018t0028g0182 a0011c0037t0005g0130	104	447	0.2327	-116	c.21+ others(15): Show c.21+3123_21+3238del	TMPRSS13	ENSG00000137747.16	transcript	ENST00000524993.6	protein_coding	1/12			chr11	TogoVar
TMPRSS4_chr11_118072078_118126890	118096903	GAAAGAAA others(109): Show GAAAGAAAGGGAGAGAGAAAGGAAAGAAAGAAAGAGAAAGAAAGAAAGGA AGGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	397	0.0025	-116	c.43+ others(15): Show c.43+2049_44-1966del	TMPRSS4	ENSG00000137648.19	transcript	ENST00000437212.8	protein_coding	2/12			chr11	TogoVar
TMX2_chr11_57707593_57745973	57717015	CTCCCAGA others(109): Show CTCCCAGACGGGGTCGCGGCCGGGCAGAGGCGCTCCTCACATCCCGGACG GGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGG CAGAGACGCTCCTCACT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03139.hp2 HG03209.hp2 others(3): Show HG01261.hp2 HG03139.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 others(3): Show a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197	6	344	0.0174	-116	c.189 others(17): Show c.189+4216_189+4331del	TMX2	ENSG00000213593.10	transcript	ENST00000278422.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
TNC_chr9_115014575_115123157	115069618	CTCTCCCT others(109): Show CTCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCT TCCTTCCTTCCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0042 a0042	a0042c0063 a0042c0063	a0042c0063t0012 a0042c0063t0012	a0042c0063t0012g0149 a0042c0063t0012g0149	1	364	0.0027	-116	c.321 others(19): Show c.3214+3869_3214+3984del	TNC	ENSG00000041982.17	transcript	ENST00000350763.9	protein_coding	10/27			chr9	TogoVar
TNC_chr9_115014575_115123157	115095502	GTATATAT others(109): Show GTATATATATATGTATATATATGTATATATATATGTATATATATGTATAT ATATGTATATATATGTATATATATGTATATATATGTATATATATGTATAT ATATATGTATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0008 a0008	a0008c0005 a0008c0005	a0008c0005t0001 a0008c0005t0001	a0008c0005t0001g0121 a0008c0005t0001g0121	1	319	0.0031	-116	c.-13 others(19): Show c.-136-4464_-136-4349del	TNC	ENSG00000041982.17	transcript	ENST00000350763.9	protein_coding	1/27			chr9	TogoVar
TOP1_chr20_41023822_41129487	41057159	GGGAGGCT others(109): Show GGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCTGAGGTTGCAG TGAGCCGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGCACCT GTAGTCTCAGCTACTCA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG01891.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0011 a0001c0001t0001g0013	2	378	0.0053	-116	c.59- others(15): Show c.59-4140_59-4025del	TOP1	ENSG00000198900.7	transcript	ENST00000361337.3	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
TPO_chr2_1408463_1548673	1511227	AAAGCCCT others(109): Show AAAGCCCTGCAGACTGGGGGTGCCACAGCGCAGCCCTGCAGACTGGGGGT GCCACAGCGCAGCCCTGCAGACTGGGGGTGCCACAGCGCAGCCCTGCAGA CTGGGGGTGCCACAGCG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00558.hp2 others(37): Show HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00741.hp1 HG01069.hp2 HG01081.hp1 HG01167.hp2 HG01192.hp2 HG01928.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02056.hp1 HG02132.hp1 HG02145.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG03209.hp2 HG03239.hp1 HG04184.hp1 HG04184.hp2 NA18962.hp1 NA18962.hp2 NA18971.hp1 NA18985.hp1 NA18998.hp1 NA18999.hp1 NA19043.hp1 NA19058.hp1 NA19240.hp2 NA20752.hp1	a0002 a0003 a0004 others(9): Show a0002 a0003 a0004 a0006 a0007 a0008 a0010 a0012 a0013 a0016 a0017 a0018	a0002c0002 a0002c0015 a0003c0003 others(17): Show a0002c0002 a0002c0015 a0003c0003 a0003c0018 a0004c0005 a0004c0007 a0004c0032 a0006c0020 a0006c0021 a0006c0022 a0007c0009 a0007c0013 a0008c0011 a0008c0016 a0010c0010 a0012c0033 a0013c0023 a0016c0030 a0017c0031 a0018c0019	a0002c0002t0003 a0002c0015t0003 a0002c0015t0004 others(26): Show a0002c0002t0003 a0002c0015t0003 a0002c0015t0004 a0003c0003t0005 a0003c0018t0002 a0004c0005t0001 a0004c0005t0002 a0004c0005t0003 a0004c0005t0005 a0004c0005t0007 a0004c0007t0004 a0004c0007t0008 a0004c0032t0008 a0006c0020t0004 a0006c0021t0004 a0006c0022t0002 a0007c0009t0003 a0007c0009t0006 a0007c0013t0007 a0007c0013t0012 a0008c0011t0006 a0008c0016t0003 a0010c0010t0002 a0010c0010t0007 a0012c0033t0001 a0013c0023t0001 a0016c0030t0004 a0017c0031t0001 a0018c0019t0004	a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 others(37): Show a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0078 a0002c0002t0003g0095 a0002c0015t0003g0110 a0002c0015t0004g0112 a0003c0003t0005g0082 a0003c0018t0002g0005 a0004c0005t0001g0019 a0004c0005t0001g0079 a0004c0005t0002g0088 a0004c0005t0003g0017 a0004c0005t0005g0075 a0004c0005t0007g0080 a0004c0007t0004g0076 a0004c0007t0004g0108 a0004c0007t0008g0049 a0004c0007t0008g0099 a0004c0032t0008g0107 a0006c0020t0004g0018 a0006c0021t0004g0030 a0006c0022t0002g0033 a0007c0009t0003g0051 a0007c0009t0006g0089 a0007c0013t0007g0118 a0007c0013t0012g0066 a0008c0011t0006g0048 a0008c0011t0006g0092 a0008c0016t0003g0020 a0010c0010t0002g0024 a0010c0010t0002g0067 a0010c0010t0007g0086 a0012c0033t0001g0098 a0013c0023t0001g0016 a0016c0030t0004g0115 a0017c0031t0001g0104 a0018c0019t0004g0007	40	110	0.3636	-116	c.251 others(19): Show c.2519-5655_2519-5540del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	14/16			chr2	TogoVar
TPO_chr2_1408463_1548673	1533244	TCCCCCAC others(109): Show TCCCCCACACTATGTGCAACCTCCTCAAATCCCCCCACTCTGCACAATCT CCCCAAATCCCCCCCACTCTGCGCAACCTCCTCAAATCCCCCCACTGTGT GCAACCTTCCCAAATCC	T T	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0004 a0006c0021t0004	a0006c0021t0004g0030 a0006c0021t0004g0030	1	128	0.0078	-116	c.261 others(19): Show c.2619-7345_2619-7230del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar

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