Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
SEC24A_chr5_134643785_134732909	134667273	CTTTTGGA others(43): Show CTTTTGGAGGAGAATTACTACTTTTCTTGACATGATGTTAGAATGTTAGG A	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0304 a0001c0001t0008g0304	1	318	0.0031	-50	c.739 others(65): Show c.739+278_739+327delTTTTGGAGGAGAATTACTACTTTTCTTGAC ATGATGTTAGAATGTTAGGA	SEC24A	ENSG00000113615.13	transcript	ENST00000398844.7	protein_coding	3/22			chr5	TogoVar
SEC63_chr6_107862756_107963208	107934820	GCCAGCTG others(43): Show GCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCAG C	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(225): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18944.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18973.hp1 NA18973.hp2 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19064.hp1 NA19067.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19088.hp1 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0002c0004 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(45): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0002t0007 a0001c0003t0006 a0001c0006t0001 a0001c0008t0001 a0001c0009t0001 a0001c0010t0001 a0001c0011t0014 a0001c0012t0001 a0002c0004t0003 a0004c0007t0043	a0001c0001t0001g0007 a0001c0001t0001g0057 a0001c0001t0001g0060 others(224): Show a0001c0001t0001g0007 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0210 a0001c0001t0001g0228 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0072 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0103 a0001c0001t0003g0111 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0162 a0001c0001t0003g0165 a0001c0001t0003g0208 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0229 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0006g0211 a0001c0001t0006g0212 a0001c0001t0006g0213 a0001c0001t0006g0214 a0001c0001t0006g0215 a0001c0001t0006g0216 a0001c0001t0006g0217 a0001c0001t0006g0220 a0001c0001t0006g0223 a0001c0001t0006g0224 a0001c0001t0006g0225 a0001c0001t0006g0281 a0001c0001t0007g0043 a0001c0001t0008g0013 a0001c0001t0008g0014 a0001c0001t0008g0016 a0001c0001t0008g0019 a0001c0001t0008g0020 a0001c0001t0008g0053 a0001c0001t0009g0091 a0001c0001t0009g0092 a0001c0001t0009g0093 a0001c0001t0009g0095 a0001c0001t0009g0109 a0001c0001t0009g0175 a0001c0001t0011g0081 a0001c0001t0011g0082 a0001c0001t0011g0085 a0001c0001t0011g0086 a0001c0001t0011g0088 a0001c0001t0012g0009 a0001c0001t0012g0010 a0001c0001t0012g0011 a0001c0001t0012g0012 a0001c0001t0014g0317 a0001c0001t0014g0320 a0001c0001t0016g0176 a0001c0001t0016g0177 a0001c0001t0016g0178 a0001c0001t0017g0318 a0001c0001t0017g0319 a0001c0001t0017g0321 a0001c0001t0020g0017 a0001c0001t0020g0018 a0001c0001t0022g0130 a0001c0001t0022g0133 a0001c0001t0023g0100 a0001c0001t0023g0131 a0001c0001t0024g0054 a0001c0001t0024g0055 a0001c0001t0028g0015 a0001c0001t0030g0209 a0001c0001t0031g0179 a0001c0001t0032g0094 a0001c0001t0033g0316 a0001c0001t0034g0315 a0001c0001t0035g0122 a0001c0001t0036g0083 a0001c0001t0037g0066 a0001c0001t0038g0253 a0001c0001t0039g0084 a0001c0001t0040g0142 a0001c0001t0041g0080 a0001c0001t0042g0062 a0001c0001t0044g0063 a0001c0001t0045g0140 a0001c0001t0046g0087 a0001c0001t0047g0141 a0001c0001t0048g0218 a0001c0001t0049g0221 a0001c0001t0050g0167 a0001c0001t0051g0071 a0001c0001t0052g0076 a0001c0002t0007g0046 a0001c0002t0007g0047 a0001c0002t0007g0048 a0001c0002t0007g0049 a0001c0002t0007g0050 a0001c0002t0007g0051 a0001c0002t0007g0052 a0001c0003t0006g0206 a0001c0003t0006g0219 a0001c0003t0006g0222 a0001c0006t0001g0157 a0001c0008t0001g0152 a0001c0009t0001g0277 a0001c0010t0001g0112 a0001c0011t0014g0207 a0001c0012t0001g0323 a0002c0004t0003g0159 a0002c0004t0003g0170 a0004c0007t0043g0322	228	332	0.6868	-50	c.125 others(67): Show c.125-5356_125-5307delGCTGGGCGGGGGGCTGACCCCCCCACCT CCCTCCCAGACGGGGCAGCTGG	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding	1/20			chr6	TogoVar
SEMA3E_chr7_83358238_83654139	83389851	ATATACAC others(43): Show ATATACACGTATATATTACATGTATACATATATACACGTATATATTACAT G	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0126 a0001c0001t0009g0126	1	226	0.0044	-50	c.166 others(69): Show c.1667+2654_1667+2703delCATGTAATATATACGTGTATATATGT ATACATGTAATATATACGTGTATA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16			chr7	TogoVar
SENP3_chr17_7556919_7576969	7571862	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATATATATATATAAA A	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01516.hp2 NA18967.hp1 NA19004.hp2 others(1): Show HG01516.hp2 NA18967.hp1 NA19004.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0006 a0001c0001t0033g0043 a0001c0001t0033g0006 a0001c0001t0033g0043	4	446	0.0090	-50	c.38 others(59): Show c.387_*436delTATATATATATATATATATATATATATATATATATA TATAAAAATATATA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	387	INFO_REALIGN_3_PRIME	chr17	TogoVar
SERGEF_chr11_17783048_18018047	17896853	TAAGGGAA others(43): Show TAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG G	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	226	0.0044	-50	c.101 others(71): Show c.1012-18659_1012-18610delCCCTTCCCTTCCCTTCCCTTCCCT TCCCTTCCCTTCCCTTCCCTTCCCTT	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	9/10			chr11	TogoVar
SERPINA11_chr14_94437464_94457800	94449461	CTTTCTTT others(43): Show CTTTCTTTCTTTCTTTCTTTCTGTCTGTCTGTCTTTCTTTCTCTTTCTTT T	C C	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	452	0.0022	-50	c.-3- others(63): Show c.-3-734_-3-685delAAAAGAAAGAGAAAGAAAGACAGACAGACAGA AAGAAAGAAAGAAAGAAA	SERPINA11	ENSG00000186910.4	transcript	ENST00000334708.4	protein_coding	1/4			chr14	TogoVar
SEZ6L_chr22_26164462_26388596	26294883	TTCTTTCT others(43): Show TTCTTTCTTGCTTGCTTGCTTGCTTCCTGCTTTCTTGCTTCTTTCTCTTT C	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0001 a0002c0022t0001	a0002c0022t0001g0194 a0002c0022t0001g0194	1	240	0.0042	-50	c.969 others(65): Show c.969+467_969+516delGCTTGCTTGCTTGCTTCCTGCTTTCTTGCT TCTTTCTCTTTCTCTTTCTT	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGF29_chr16_28548920_28596790	28564695	ATGTATAT others(43): Show ATGTATATATATACATATATATGTATATATATACATATATATGTATATAT G	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03486.hp2 NA20300.hp1 HG01884.hp1 HG03486.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0298	3	346	0.0087	-50	c.-16 others(69): Show c.-16+10600_-16+10649delGTATATATATACATATATATGTATAT ATATACATATATATGTATATATGT	SGF29	ENSG00000176476.9	transcript	ENST00000317058.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
SGIP1_chr1_66529153_66756139	66660002	GACAGACA others(43): Show GACAGACAGACAGACAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAG A	G G	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0196 a0001c0008t0002g0196	1	302	0.0033	-50	c.460 others(65): Show c.460-509_460-460delCAGACAGACAGACAGGAAGGAAGGAAGGAA GGAAGGAAAGAAAGAAAGAA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGSM2_chr17_2332501_2386054	2355387	TGGGGCAG others(43): Show TGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGAGTT G	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp2 others(54): Show HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00738.hp2 HG01515.hp2 HG01516.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02056.hp2 HG02080.hp1 HG02129.hp2 HG02523.hp1 HG02698.hp2 HG03669.hp1 HG03688.hp2 HG03927.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 NA18612.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18953.hp1 NA18953.hp2 NA18960.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18979.hp1 NA18981.hp2 NA18990.hp1 NA18995.hp2 NA18999.hp2 NA19003.hp1 NA19011.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19070.hp1 NA19072.hp1 NA19080.hp2 NA19081.hp2 NA19086.hp2 NA19089.hp2 NA20752.hp2	a0001 a0002 a0019 others(2): Show a0001 a0002 a0019 a0023 a0028	a0001c0001 a0001c0003 a0001c0039 others(4): Show a0001c0001 a0001c0003 a0001c0039 a0002c0002 a0019c0038 a0023c0018 a0028c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0003t0001 a0001c0003t0002 a0001c0039t0001 a0002c0002t0001 a0019c0038t0008 a0023c0018t0001 a0028c0014t0001	a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0029 others(53): Show a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0058 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0215 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0246 a0001c0001t0001g0257 a0001c0001t0001g0296 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0377 a0001c0001t0002g0177 a0001c0001t0002g0207 a0001c0001t0002g0227 a0001c0001t0002g0249 a0001c0001t0002g0271 a0001c0001t0007g0173 a0001c0001t0007g0184 a0001c0001t0008g0175 a0001c0001t0012g0320 a0001c0003t0001g0108 a0001c0003t0001g0118 a0001c0003t0002g0105 a0001c0003t0002g0119 a0001c0003t0002g0252 a0001c0039t0001g0234 a0002c0002t0001g0224 a0019c0038t0008g0216 a0023c0018t0001g0114 a0028c0014t0001g0145	57	422	0.1351	-50	c.134 others(67): Show c.134-6245_134-6196delCAGGGGCCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGAGTTGGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2355397	GCCCCATA others(43): Show GCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGAGTTGGGGGAAGGG A	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0329	1	422	0.0024	-50	c.134 others(67): Show c.134-6204_134-6155delAGTTGGGGGAAGGGACCCCATATCTTAG AATGGTGGAATCGGGGTGTAAG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2355532	GGTTGGGG others(43): Show GGTTGGGGGAAGGGACCCCATATCTTAGAATGGTAGAATCGGGGTGTAAG A	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00544.hp1 others(55): Show HG00099.hp2 HG00280.hp1 HG00544.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01361.hp2 HG02056.hp2 HG02071.hp1 HG02109.hp2 HG02135.hp2 HG02486.hp2 HG02523.hp2 HG02698.hp2 HG02735.hp1 HG03239.hp1 HG03239.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp2 NA18955.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18969.hp1 NA18972.hp2 NA18978.hp2 NA18999.hp1 NA19000.hp2 NA19004.hp1 NA19056.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19077.hp2 NA19080.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2	a0001 a0008 a0010 others(3): Show a0001 a0008 a0010 a0012 a0020 a0023	a0001c0001 a0001c0003 a0001c0020 others(6): Show a0001c0001 a0001c0003 a0001c0020 a0001c0029 a0008c0019 a0010c0033 a0012c0023 a0020c0040 a0023c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 a0001c0001t0017 a0001c0001t0021 a0001c0003t0002 a0001c0020t0001 a0001c0029t0001 a0008c0019t0001 a0010c0033t0001 a0012c0023t0001 a0020c0040t0001 a0023c0018t0001	a0001c0001t0001g0019 a0001c0001t0001g0055 a0001c0001t0001g0056 others(53): Show a0001c0001t0001g0019 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0165 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0230 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0278 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0297 a0001c0001t0001g0304 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0313 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0323 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0357 a0001c0001t0001g0367 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0003g0324 a0001c0001t0003g0330 a0001c0001t0010g0014 a0001c0001t0010g0259 a0001c0001t0013g0318 a0001c0001t0013g0322 a0001c0001t0017g0366 a0001c0001t0021g0017 a0001c0003t0002g0119 a0001c0003t0002g0219 a0001c0020t0001g0286 a0001c0029t0001g0359 a0008c0019t0001g0017 a0010c0033t0001g0202 a0012c0023t0001g0368 a0020c0040t0001g0220 a0023c0018t0001g0114	58	422	0.1374	-50	c.134 others(67): Show c.134-6071_134-6022delAGAATCGGGGTGTAAGAGTTGGGGGAAG GGACCCCATATCTTAGAATGGT	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2355635	TGGGGAAG others(43): Show TGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGAGTT G	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	422	0.0024	-50	c.134 others(67): Show c.134-5956_134-5907delAGTTGGGGGAAGGGACCCCATATCTTAG AATGGTGGAATCGGGGTGTAAG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2355833	TGGGGGAA others(43): Show TGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGT T	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00544.hp2 others(12): Show HG00423.hp1 HG00423.hp2 HG00544.hp2 HG01346.hp2 HG02004.hp2 HG02040.hp1 HG02083.hp2 NA18946.hp1 NA18951.hp2 NA18954.hp2 NA18978.hp1 NA19009.hp1 NA19079.hp2 NA19084.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0032 a0004c0010 a0001c0001 a0001c0032 a0004c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0032t0001 a0004c0010t0001	a0001c0001t0001g0154 a0001c0001t0001g0162 a0001c0001t0001g0163 others(12): Show a0001c0001t0001g0154 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0223 a0001c0001t0001g0229 a0001c0001t0001g0267 a0001c0001t0001g0277 a0001c0001t0003g0204 a0001c0001t0007g0164 a0001c0001t0008g0210 a0001c0001t0011g0116 a0001c0032t0001g0188 a0004c0010t0001g0117	15	422	0.0356	-50	c.134 others(67): Show c.134-5799_134-5750delGAAGGGACCCCATATCTTAGAATGGTGG AATCGGGGTGTAAGGGTTGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2355929	GGTTGGGG others(43): Show GGTTGGGGGAAGGGACCCCATATCTTAGAATGGTAGAATCGGGGTGTAAG A	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp1 HG03669.hp1 others(11): Show HG02055.hp1 HG02622.hp1 HG03669.hp1 HG04199.hp1 HG04204.hp2 NA18947.hp2 NA18949.hp1 NA18965.hp1 NA18966.hp1 NA19011.hp2 NA19070.hp1 NA19072.hp1 NA19080.hp2 NA19085.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0030 a0001c0001 a0013c0030	a0001c0001t0001 a0001c0001t0002 a0013c0030t0024 a0001c0001t0001 a0001c0001t0002 a0013c0030t0024	a0001c0001t0001g0115 a0001c0001t0001g0257 a0001c0001t0001g0296 others(11): Show a0001c0001t0001g0115 a0001c0001t0001g0257 a0001c0001t0001g0296 a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0002g0022 a0001c0001t0002g0177 a0001c0001t0002g0207 a0001c0001t0002g0227 a0001c0001t0002g0238 a0001c0001t0002g0249 a0001c0001t0002g0271 a0013c0030t0024g0149	14	422	0.0332	-50	c.134 others(67): Show c.134-5674_134-5625delAGAATCGGGGTGTAAGAGTTGGGGGAAG GGACCCCATATCTTAGAATGGT	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2356032	TGGGGAAG others(43): Show TGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGAGTT G	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00733.hp1 HG01106.hp2 others(9): Show HG00597.hp2 HG00733.hp1 HG01106.hp2 HG02015.hp1 HG02040.hp2 HG02071.hp2 NA18957.hp2 NA18975.hp2 NA18984.hp1 NA18992.hp2 NA18993.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0001 a0001c0003t0002	a0001c0001t0001g0010 a0001c0001t0001g0120 a0001c0001t0001g0171 others(9): Show a0001c0001t0001g0010 a0001c0001t0001g0120 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0190 a0001c0001t0001g0329 a0001c0001t0001g0394 a0001c0003t0001g0111 a0001c0003t0002g0107 a0001c0003t0002g0112 a0001c0003t0002g0113	12	422	0.0284	-50	c.134 others(67): Show c.134-5559_134-5510delAGTTGGGGGAAGGGACCCCATATCTTAG AATGGTGGAATCGGGGTGTAAG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH3PXD2A_chr10_103589027_103860576	103810907	GACACACA others(43): Show GACACACACACACGGAGACACACACATGGACACAGGCGCGCGCGCGCACA C	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02083.hp1 HG01109.hp2 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0014 a0001c0002 a0001c0014	a0001c0002t0115 a0001c0014t0006 a0001c0002t0115 a0001c0014t0006	a0001c0002t0115g0134 a0001c0014t0006g0111 a0001c0002t0115g0134 a0001c0014t0006g0111	2	250	0.0080	-50	c.73- others(65): Show c.73-9595_73-9546delGTGTGCGCGCGCGCGCCTGTGTCCATGTGT GTGTCTCCGTGTGTGTGTGT	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	1/14			chr10	TogoVar
SHANK1_chr19_50654255_50724802	50699962	GGGCTCGG others(43): Show GGGCTCGGGGCATTGGAGGATTGGAGGGATCGGGGCATTGGAGGGTTGGA A	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0063 a0001c0016t0063	a0001c0016t0063g0040 a0001c0016t0063g0040	1	316	0.0032	-50	c.174 others(69): Show c.1748-2056_1748-2007delTTCCAACCCTCCAATGCCCCGATCCC TCCAATCCTCCAATGCCCCGAGCC	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	12/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50699990	ATCGGGGC others(43): Show ATCGGGGCATTGGAGGGTTGGAAGGCTCGGGGCATTGGAGGATTGGAGGG C	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00423.hp2 others(97): Show HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00597.hp2 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01516.hp1 HG01517.hp1 HG01975.hp1 HG02027.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18950.hp2 NA18960.hp2 NA18964.hp2 NA18969.hp1 NA18971.hp1 NA18983.hp1 NA18983.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19060.hp2 NA19067.hp1 NA19074.hp2 NA19084.hp1 NA19089.hp2 NA19240.hp2 NA20129.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0008 a0009 a0010 a0017 a0018	a0001c0002 a0001c0003 a0001c0004 others(17): Show a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0001c0011 a0001c0013 a0001c0014 a0001c0020 a0001c0038 a0002c0001 a0002c0041 a0003c0005 a0003c0006 a0005c0022 a0008c0030 a0009c0025 a0010c0029 a0017c0036 a0018c0037	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(73): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0014 a0001c0002t0016 a0001c0002t0030 a0001c0002t0037 a0001c0002t0040 a0001c0002t0050 a0001c0002t0051 a0001c0002t0052 a0001c0002t0105 a0001c0003t0004 a0001c0003t0010 a0001c0003t0012 a0001c0003t0017 a0001c0003t0023 a0001c0003t0025 a0001c0003t0035 a0001c0003t0044 a0001c0003t0064 a0001c0003t0066 a0001c0003t0074 a0001c0003t0075 a0001c0003t0082 a0001c0003t0099 a0001c0003t0102 a0001c0003t0110 a0001c0004t0007 a0001c0004t0008 a0001c0004t0080 a0001c0007t0012 a0001c0009t0007 a0001c0011t0001 a0001c0013t0024 a0001c0014t0008 a0001c0014t0086 a0001c0020t0008 a0001c0038t0094 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0008 a0002c0001t0010 a0002c0001t0013 a0002c0001t0015 a0002c0001t0039 a0002c0001t0046 a0002c0001t0047 a0002c0001t0049 a0002c0001t0054 a0002c0001t0059 a0002c0001t0069 a0002c0001t0085 a0002c0001t0088 a0002c0001t0092 a0002c0001t0106 a0002c0041t0013 a0003c0005t0003 a0003c0005t0014 a0003c0005t0043 a0003c0006t0005 a0003c0006t0108 a0005c0022t0001 a0008c0030t0071 a0009c0025t0004 a0010c0029t0001 a0017c0036t0002 a0018c0037t0005	a0001c0002t0001g0093 a0001c0002t0001g0096 a0001c0002t0001g0119 others(97): Show a0001c0002t0001g0093 a0001c0002t0001g0096 a0001c0002t0001g0119 a0001c0002t0001g0195 a0001c0002t0001g0201 a0001c0002t0001g0261 a0001c0002t0002g0295 a0001c0002t0003g0196 a0001c0002t0003g0276 a0001c0002t0005g0116 a0001c0002t0005g0161 a0001c0002t0006g0238 a0001c0002t0006g0277 a0001c0002t0007g0269 a0001c0002t0009g0099 a0001c0002t0009g0194 a0001c0002t0010g0197 a0001c0002t0011g0081 a0001c0002t0014g0198 a0001c0002t0016g0112 a0001c0002t0030g0132 a0001c0002t0037g0006 a0001c0002t0040g0009 a0001c0002t0050g0027 a0001c0002t0051g0026 a0001c0002t0052g0025 a0001c0002t0105g0304 a0001c0003t0004g0097 a0001c0003t0004g0098 a0001c0003t0004g0191 a0001c0003t0010g0172 a0001c0003t0012g0068 a0001c0003t0017g0086 a0001c0003t0023g0078 a0001c0003t0025g0008 a0001c0003t0035g0003 a0001c0003t0044g0010 a0001c0003t0064g0044 a0001c0003t0066g0043 a0001c0003t0074g0124 a0001c0003t0075g0289 a0001c0003t0082g0083 a0001c0003t0099g0308 a0001c0003t0102g0303 a0001c0003t0110g0313 a0001c0004t0007g0063 a0001c0004t0008g0049 a0001c0004t0080g0082 a0001c0007t0012g0077 a0001c0009t0007g0270 a0001c0011t0001g0280 a0001c0013t0024g0122 a0001c0013t0024g0136 a0001c0014t0008g0230 a0001c0014t0086g0242 a0001c0020t0008g0260 a0001c0038t0094g0287 a0002c0001t0001g0111 a0002c0001t0002g0113 a0002c0001t0002g0187 a0002c0001t0002g0188 a0002c0001t0002g0211 a0002c0001t0002g0275 a0002c0001t0002g0290 a0002c0001t0002g0291 a0002c0001t0002g0293 a0002c0001t0002g0296 a0002c0001t0003g0148 a0002c0001t0005g0090 a0002c0001t0008g0265 a0002c0001t0008g0266 a0002c0001t0008g0288 a0002c0001t0010g0263 a0002c0001t0010g0264 a0002c0001t0013g0121 a0002c0001t0013g0256 a0002c0001t0015g0200 a0002c0001t0039g0014 a0002c0001t0046g0011 a0002c0001t0047g0024 a0002c0001t0049g0023 a0002c0001t0054g0031 a0002c0001t0059g0036 a0002c0001t0069g0045 a0002c0001t0085g0170 a0002c0001t0088g0281 a0002c0001t0092g0215 a0002c0001t0106g0311 a0002c0041t0013g0255 a0003c0005t0003g0117 a0003c0005t0014g0220 a0003c0005t0043g0020 a0003c0006t0005g0279 a0003c0006t0108g0309 a0005c0022t0001g0092 a0008c0030t0071g0072 a0009c0025t0004g0282 a0010c0029t0001g0204 a0017c0036t0002g0294 a0018c0037t0005g0120	100	316	0.3165	-50	c.174 others(69): Show c.1748-2084_1748-2035delGCCCTCCAATCCTCCAATGCCCCGAG CCTTCCAACCCTCCAATGCCCCGA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	12/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50700018	GGGGCATT others(43): Show GGGGCATTGGAGGATTGGAGGGCTCGGGGCATTGGAGGGTTGGAAGGCTC A	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp1 HG00738.hp1 others(56): Show HG00140.hp2 HG00733.hp1 HG00738.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01952.hp1 HG01981.hp2 HG02055.hp1 HG02486.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03704.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18986.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0011 a0012 a0013 a0016	a0001c0002 a0001c0003 a0001c0004 others(13): Show a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0001c0015 a0001c0018 a0001c0019 a0001c0032 a0002c0001 a0003c0005 a0003c0006 a0011c0031 a0012c0026 a0013c0027 a0016c0035	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 others(47): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 a0001c0002t0030 a0001c0002t0031 a0001c0002t0041 a0001c0002t0053 a0001c0002t0083 a0001c0002t0095 a0001c0002t0104 a0001c0003t0004 a0001c0003t0007 a0001c0003t0011 a0001c0003t0012 a0001c0003t0022 a0001c0003t0079 a0001c0003t0081 a0001c0003t0112 a0001c0004t0017 a0001c0004t0076 a0001c0004t0096 a0001c0007t0007 a0001c0009t0004 a0001c0009t0007 a0001c0015t0001 a0001c0018t0003 a0001c0018t0077 a0001c0019t0020 a0001c0032t0018 a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 a0002c0001t0007 a0002c0001t0011 a0002c0001t0019 a0002c0001t0024 a0002c0001t0027 a0002c0001t0038 a0002c0001t0065 a0002c0001t0087 a0002c0001t0089 a0003c0005t0003 a0003c0006t0001 a0003c0006t0012 a0003c0006t0045 a0011c0031t0029 a0012c0026t0060 a0013c0027t0011 a0016c0035t0068	a0001c0002t0001g0189 a0001c0002t0001g0250 a0001c0002t0002g0218 others(56): Show a0001c0002t0001g0189 a0001c0002t0001g0250 a0001c0002t0002g0218 a0001c0002t0006g0236 a0001c0002t0009g0222 a0001c0002t0009g0223 a0001c0002t0030g0246 a0001c0002t0031g0210 a0001c0002t0031g0227 a0001c0002t0041g0016 a0001c0002t0053g0030 a0001c0002t0083g0229 a0001c0002t0095g0070 a0001c0002t0104g0307 a0001c0003t0004g0054 a0001c0003t0004g0079 a0001c0003t0004g0224 a0001c0003t0004g0226 a0001c0003t0007g0053 a0001c0003t0007g0087 a0001c0003t0011g0050 a0001c0003t0012g0051 a0001c0003t0022g0243 a0001c0003t0079g0142 a0001c0003t0081g0179 a0001c0003t0112g0315 a0001c0004t0017g0245 a0001c0004t0076g0244 a0001c0004t0096g0297 a0001c0007t0007g0216 a0001c0009t0004g0249 a0001c0009t0007g0251 a0001c0015t0001g0101 a0001c0018t0003g0126 a0001c0018t0077g0123 a0001c0019t0020g0235 a0001c0032t0018g0185 a0002c0001t0001g0057 a0002c0001t0002g0094 a0002c0001t0005g0110 a0002c0001t0005g0219 a0002c0001t0007g0221 a0002c0001t0011g0232 a0002c0001t0011g0233 a0002c0001t0019g0225 a0002c0001t0024g0247 a0002c0001t0027g0029 a0002c0001t0038g0005 a0002c0001t0065g0042 a0002c0001t0087g0095 a0002c0001t0089g0217 a0003c0005t0003g0100 a0003c0006t0001g0248 a0003c0006t0012g0088 a0003c0006t0045g0007 a0011c0031t0029g0129 a0012c0026t0060g0038 a0013c0027t0011g0228 a0016c0035t0068g0041	59	316	0.1867	-50	c.174 others(69): Show c.1748-2112_1748-2063delTGAGCCTTCCAACCCTCCAATGCCCC GAGCCCTCCAATCCTCCAATGCCC	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	12/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50707876	TTTTTCTT others(43): Show TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT C	T T	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0193 a0002c0001t0001g0193	1	316	0.0032	-50	c.107 others(69): Show c.1078-3412_1078-3363delGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	8/23			chr19	TogoVar
SHC2_chr19_411589_466033	427466	ACACGGCA others(43): Show ACACGGCACAGGGAAGGGGAATTGCACACGGCACAGGGAAGGGGAATTGC G	A A	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0065 a0001c0001t0004g0065	1	212	0.0047	-50	c.117 others(69): Show c.1175-2285_1175-2236delCGCAATTCCCCTTCCCTGTGCCGTGT GCAATTCCCCTTCCCTGTGCCGTG	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	9/12			chr19	TogoVar
SHC2_chr19_411589_466033	430034	CCCCAACG others(43): Show CCCCAACGTGCACGGAAACCTAATACCGTGTGGATGACGCAGTACCTATA T	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0014 a0005c0009t0014	a0005c0009t0014g0040 a0005c0009t0014g0040	1	212	0.0047	-50	c.117 others(67): Show c.1174+600_1174+649delATATAGGTACTGCGTCATCCACACGGTA TTAGGTTTCCGTGCACGTTGGG	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	9/12			chr19	TogoVar
SHC2_chr19_411589_466033	431440	TGGCGCTT others(43): Show TGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGG C	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	212	0.0047	-50	c.111 others(67): Show c.1111-743_1111-694delGCCCGGCCTCCTCTATCTCTCACTCACG ATCTCACTCACGATGAAGCGCC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHISA6_chr17_11236213_11569063	11526880	CATATATA others(43): Show CATATATATATATATATATATATATATATATATATATATATATATATATA T	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp2 others(89): Show HG00099.hp1 HG00099.hp2 HG00408.hp2 HG00639.hp1 HG00738.hp2 HG01071.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01258.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01891.hp1 HG01981.hp1 HG01981.hp2 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03710.hp1 HG03927.hp2 HG04199.hp2 HG06807.hp1 NA18747.hp2 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18951.hp1 NA18951.hp2 NA18970.hp1 NA18970.hp2 NA18986.hp2 NA18989.hp1 NA18991.hp1 NA18999.hp2 NA19005.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19084.hp1 NA19084.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0028 a0001c0001t0031 a0001c0001t0032 a0001c0001t0050 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0010 a0001c0002t0011 a0001c0002t0023 a0001c0002t0025 a0001c0003t0004 a0001c0003t0007 a0001c0003t0011 a0001c0003t0018 a0001c0003t0035 a0001c0013t0029	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0012 others(89): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0004g0014 a0001c0001t0004g0031 a0001c0001t0004g0042 a0001c0001t0004g0054 a0001c0001t0004g0058 a0001c0001t0004g0082 a0001c0001t0004g0104 a0001c0001t0004g0112 a0001c0001t0004g0130 a0001c0001t0004g0161 a0001c0001t0004g0168 a0001c0001t0004g0187 a0001c0001t0006g0034 a0001c0001t0006g0162 a0001c0001t0006g0170 a0001c0001t0006g0181 a0001c0001t0006g0186 a0001c0001t0007g0002 a0001c0001t0007g0072 a0001c0001t0007g0119 a0001c0001t0008g0049 a0001c0001t0008g0087 a0001c0001t0008g0124 a0001c0001t0008g0125 a0001c0001t0008g0126 a0001c0001t0010g0064 a0001c0001t0010g0159 a0001c0001t0010g0182 a0001c0001t0011g0068 a0001c0001t0018g0004 a0001c0001t0020g0078 a0001c0001t0020g0128 a0001c0001t0022g0070 a0001c0001t0024g0036 a0001c0001t0028g0143 a0001c0001t0031g0116 a0001c0001t0032g0037 a0001c0001t0050g0160 a0001c0002t0001g0095 a0001c0002t0001g0101 a0001c0002t0001g0140 a0001c0002t0001g0174 a0001c0002t0002g0090 a0001c0002t0003g0094 a0001c0002t0004g0092 a0001c0002t0006g0097 a0001c0002t0007g0018 a0001c0002t0007g0103 a0001c0002t0010g0096 a0001c0002t0010g0099 a0001c0002t0011g0192 a0001c0002t0023g0001 a0001c0002t0025g0189 a0001c0003t0004g0139 a0001c0003t0007g0106 a0001c0003t0011g0108 a0001c0003t0011g0121 a0001c0003t0018g0146 a0001c0003t0035g0180 a0001c0013t0029g0021	92	192	0.4792	-50	c.896 others(69): Show c.896-25009_896-24960delATATATATATATATATATATATATAT ATATATATATATATATATATATAT	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA9_chr16_12896598_13245416	13037088	CCACACAC others(43): Show CCACACACACACACACACACAGACACACACACACACACACACACACACAC A	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0068 a0001c0001t0074g0068	1	214	0.0047	-50	c.691 others(71): Show c.691+120293_691+120342delAGACACACACACACACACACACAC ACACACACACACACACACACACACAC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHROOM3_chr4_76430229_76788253	76608673	TAGCACAG others(43): Show TAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCA C	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp1 HG02723.hp1 others(3): Show HG02258.hp2 HG02615.hp1 HG02723.hp1 HG03130.hp2 HG03209.hp2 NA20129.hp2	a0001 a0002 a0017 a0001 a0002 a0017	a0001c0001 a0001c0015 a0002c0002 others(1): Show a0001c0001 a0001c0015 a0002c0002 a0017c0025	a0001c0001t0001 a0001c0001t0002 a0001c0015t0009 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0015t0009 a0002c0002t0001 a0017c0025t0006	a0001c0001t0001g0052 a0001c0001t0002g0055 a0001c0015t0009g0059 others(3): Show a0001c0001t0001g0052 a0001c0001t0002g0055 a0001c0015t0009g0059 a0001c0015t0009g0111 a0002c0002t0001g0113 a0017c0025t0006g0095	6	218	0.0275	-50	c.323 others(69): Show c.323+52920_323+52969delCAGCACAGCACAGCACAGCACAGCAC AGCACAGCACAGCACAGCACAGCA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHTN1_chr10_116876477_117010187	116946641	ATATATAA others(43): Show ATATATAAAATGATTTATATATAAATATATAAAATGATTTATATATATAA T	A A	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA19087.hp1 NA18999.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0010 a0001c0001t0004g0011	2	292	0.0069	-50	c.617 others(67): Show c.617-1673_617-1624delATTATATATATAAATCATTTTATATATT TATATATAAATCATTTTATATA	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	7/16			chr10	TogoVar
SIM1_chr6_100380009_100469921	100412587	GAAAGAAA others(43): Show GAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAGGAAAGAAAGAAAG A	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01952.hp2 HG00738.hp2 HG01952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0267 a0002c0002t0007g0268 a0002c0002t0007g0267 a0002c0002t0007g0268	2	320	0.0063	-50	c.116 others(69): Show c.1167+8153_1167+8202delTCTTTCTTTCTTTCCTTCTTTCTTTC CTTTCTTTCTTTCTTTCTTTCTTT	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SKAP2_chr7_26662068_26869590	26837787	TCACTTCC others(43): Show TCACTTCCTTTTCAGTACAATATCCACCTCTCTAGCCCAGAGTCTTATCA A	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00597.hp2 others(40): Show HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00738.hp2 HG01358.hp1 HG01516.hp2 HG01978.hp2 HG02027.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02165.hp1 HG03491.hp1 HG03669.hp2 HG03831.hp2 NA18612.hp2 NA18747.hp2 NA18945.hp1 NA18947.hp2 NA18953.hp2 NA18957.hp2 NA18960.hp2 NA18964.hp2 NA18973.hp2 NA18980.hp2 NA18982.hp2 NA18987.hp1 NA18993.hp2 NA19003.hp2 NA19005.hp2 NA19010.hp2 NA19012.hp2 NA19057.hp1 NA19058.hp2 NA19066.hp2 NA19068.hp2 NA19085.hp2 NA19088.hp1 NA19089.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0001 a0001c0001t0003 a0001c0001t0013	a0001c0001t0001g0017 a0001c0001t0001g0074 a0001c0001t0003g0010 others(40): Show a0001c0001t0001g0017 a0001c0001t0001g0074 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0018 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0040 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0075 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0129 a0001c0001t0003g0133 a0001c0001t0003g0191 a0001c0001t0013g0053	43	296	0.1453	-50	c.307 others(67): Show c.307+6193_307+6242delTTGATAAGACTCTGGGCTAGAGAGGTGG ATATTGTACTGAAAAGGAAGTG	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	4/12			chr7	TogoVar
SLBP_chr4_1687731_1717319	1707225	CAAAAAAA others(43): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	C C	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA19012.hp1 NA18983.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	2	376	0.0053	-50	c.177 others(67): Show c.177-3575_177-3526delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTT	SLBP	ENSG00000163950.13	transcript	ENST00000489418.6	protein_coding	2/7			chr4	TogoVar
SLC12A4_chr16_67938474_67973637	67969928	CTGGGGGA others(43): Show CTGGGGGACATCTACCTAGCCTCTGTCCCTACCCTCACTTATCAAATTCC T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0125 a0002c0003t0002g0125	1	280	0.0036	-50	c.-14 others(61): Show c.-1425_-1376delAGGAATTTGATAAGTGAGGGTAGGGACAGAGGCT AGGTAGATGTCCCCCA	SLC12A4	ENSG00000124067.17	transcript	ENST00000316341.8	protein_coding		1292		chr16	TogoVar
SLC16A9_chr10_59645764_59714850	59681789	TATGTATA others(43): Show TATGTATATGTATATGTATATGTATATATGATGTATATGTATATGTATAT G	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp1 HG01106.hp1 others(18): Show HG00642.hp2 HG00741.hp1 HG01106.hp1 HG01123.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG02486.hp2 HG02896.hp1 HG02897.hp2 HG03041.hp1 HG03540.hp2 HG03834.hp2 HG04228.hp1 NA18955.hp2 NA18959.hp2 NA19011.hp2 NA19012.hp2 NA19062.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 others(4): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0027	a0001c0001t0006g0327 a0001c0001t0006g0330 a0001c0001t0006g0332 others(18): Show a0001c0001t0006g0327 a0001c0001t0006g0330 a0001c0001t0006g0332 a0001c0001t0006g0337 a0001c0001t0008g0232 a0001c0001t0008g0245 a0001c0001t0008g0292 a0001c0001t0008g0294 a0001c0001t0008g0295 a0001c0001t0008g0296 a0001c0001t0011g0050 a0001c0001t0011g0057 a0001c0001t0011g0058 a0001c0001t0011g0059 a0001c0001t0011g0060 a0001c0001t0011g0061 a0001c0001t0015g0253 a0001c0001t0016g0045 a0001c0001t0019g0051 a0001c0001t0019g0056 a0001c0001t0027g0323	21	352	0.0597	-50	c.196 others(67): Show c.196+2257_196+2306delCATATACATATACATATACATCATATAT ACATATACATATACATATACAT	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	2/5			chr10	TogoVar
SLC16A9_chr10_59645764_59714850	59696932	TGGGGGGT others(43): Show TGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGAAGGGAGGTG G	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp2 HG02258.hp2 others(4): Show HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02976.hp2 HG06807.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0001t0005 a0001c0001t0018 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0018 a0001c0001t0026 a0001c0009t0002	a0001c0001t0002g0160 a0001c0001t0005g0016 a0001c0001t0018g0065 others(4): Show a0001c0001t0002g0160 a0001c0001t0005g0016 a0001c0001t0018g0065 a0001c0001t0018g0066 a0001c0001t0018g0067 a0001c0001t0026g0320 a0001c0009t0002g0110	7	352	0.0199	-50	c.-37 others(69): Show c.-37+12497_-37+12546delCCACCTCCCTTCTGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCC	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	1/5			chr10	TogoVar
SLC17A5_chr6_73588379_73658992	73649932	ATCTGCCC others(43): Show ATCTGCCCTAGTGTGTAACTTCATAAGCACTGCATGCCTGTGCTCAGGAG T	A A	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	324	0.0031	-50	c.94+ others(65): Show c.94+3811_94+3860delACTCCTGAGCACAGGCATGCAGTGCTTATG AAGTTACACACTAGGGCAGA	SLC17A5	ENSG00000119899.13	transcript	ENST00000355773.6	protein_coding	1/10			chr6	TogoVar
SLC22A12_chr11_64586220_64607344	64595493	AATGGATG others(43): Show AATGGATGGATGGATGGTTGGAATGAATGGATGGATGGATGGTTGGAATG G	A A	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0113 a0001c0003t0003g0113	1	390	0.0026	-50	c.830 others(67): Show c.830+1715_830+1764delAATGGATGGATGGATGGTTGGAATGGAT GGATGGATGGATGGTTGGAATG	SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A23_chr6_3263973_3462050	3460843	ATTTCTTC others(43): Show ATTTCTTCCTTTCAAATAACTATTTGAAAATTAGGTTACCTTGATTTTGG G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0209 a0001c0001t0052g0209	1	222	0.0045	-50	c.-43 others(61): Show c.-4334_-4285delCCCAAAATCAAGGTAACCTAATTTTCAAATAGTT ATTTGAAAGGAAGAAA	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding		3794		chr6	TogoVar
SLC25A13_chr7_96115220_96327098	96147054	TCGTATCC others(43): Show TCGTATCCAAATGAGGAGACACAGAACGTATCCAAATGAGGAGACACAGA A	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01934.hp2 HG02055.hp1 others(39): Show HG01884.hp2 HG01934.hp2 HG02055.hp1 HG02074.hp1 HG02135.hp1 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp2 HG03688.hp2 HG03927.hp2 HG06807.hp1 NA18968.hp2 NA18979.hp2 NA18994.hp2 NA19030.hp1 NA19043.hp2 NA19079.hp1 NA19084.hp2 NA20300.hp1 NA21309.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0003c0009 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001 a0001c0008t0001 a0003c0009t0001 a0004c0006t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(39): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0228 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0266 a0001c0003t0001g0131 a0001c0003t0003g0133 a0001c0003t0003g0134 a0001c0004t0001g0006 a0001c0004t0001g0219 a0001c0004t0001g0256 a0001c0005t0001g0274 a0001c0005t0001g0275 a0001c0005t0001g0276 a0001c0007t0001g0130 a0001c0008t0001g0021 a0003c0009t0001g0020 a0004c0006t0001g0012	42	276	0.1522	-50	c.131 others(67): Show c.1312-408_1312-359delTTCTGTGTCTCCTCATTTGGATACGTTC TGTGTCTCCTCATTTGGATACG	SLC25A13	ENSG00000004864.14	transcript	ENST00000265631.10	protein_coding	13/17			chr7	TogoVar
SLC2A13_chr12_39750025_40111081	39895931	TGTGTATA others(43): Show TGTGTATATATACATGCGTATATGTGTATATATACATGTGTATATGTATA C	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01928.hp1 HG01981.hp2 others(3): Show HG01109.hp2 HG01928.hp1 HG01981.hp2 NA18973.hp2 NA18985.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0078 a0001c0001t0001g0079 others(3): Show a0001c0001t0001g0053 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0102	6	214	0.0280	-50	c.103 others(71): Show c.1035-24020_1035-23971delGTATACATATACACATGTATATAT ACACATATACGCATGTATATATACAC	SLC2A13	ENSG00000151229.13	transcript	ENST00000280871.9	protein_coding	4/9			chr12	TogoVar
SLC38A9_chr5_55620848_55717324	55696532	CCCACCTC others(43): Show CCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC T	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0250 a0002c0013t0001g0250	1	350	0.0029	-50	c.113 others(67): Show c.113+1264_113+1313delAGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCTGGGAGGGAGGTGG	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC43A3_chr11_57401954_57432121	57403464	AGAAGAAG others(43): Show AGAAGAAGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAAAAGAAGA G	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	330	0.0030	-50	c.42 others(61): Show c.4278_*4327delCTCTTCTTTTCTTCTTCCTCTTCTTCCTCTTCTT CCTCTTCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3489		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403473	AGAAGAGG others(43): Show AGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAAAAGAAGAGGAAGAAGA G	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG03491.hp2 NA18983.hp1 others(1): Show HG02723.hp2 HG03491.hp2 NA18983.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0141 others(1): Show a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0141 a0001c0001t0020g0196	4	330	0.0121	-50	c.42 others(61): Show c.4269_*4318delCTCTTCTTCCTCTTCTTTTCTTCTTCCTCTTCTT CCTCTTCTTCCTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3480		chr11	TogoVar
SLC5A4_chr22_32213464_32260347	32239548	ATATATAT others(43): Show ATATATATATATATATATATATTTATATATATATTTATATATATATAAAT T	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02809.hp1 HG02896.hp2 others(1): Show HG02647.hp1 HG02809.hp1 HG02896.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 others(1): Show a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0238	4	302	0.0133	-50	c.478 others(65): Show c.478-508_478-459delAATTTATATATATATAAATATATATATAAA TATATATATATATATATATA	SLC5A4	ENSG00000100191.6	transcript	ENST00000266086.6	protein_coding	5/14			chr22	TogoVar
SLC5A8_chr12_101150493_101215238	101211118	CATTTAGT others(43): Show CATTTAGTCTAGCCTAGTGTATGATAAAAAAGCTATATCAGATTTTATTT T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0009 a0001c0001t0015g0009	1	375	0.0027	-50	c.-13 others(61): Show c.-1320_-1271delAAAATAAAATCTGATATAGCTTTTTTATCATACA CTAGGCTAGACTAAAT	SLC5A8	ENSG00000256870.3	transcript	ENST00000536262.3	protein_coding		881		chr12	TogoVar
SLC6A16_chr19_49284638_49330191	49321657	ACCTGGGA others(43): Show ACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATACCACTGCACTCCA G	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0292 a0004c0009t0001g0292	1	338	0.0030	-50	c.-65 others(67): Show c.-65+3341_-65+3390delCTGGAGTGCAGTGGTATGATCTTGGCTC ACTGCAACCTCTGCCTCCCAGG	SLC6A16	ENSG00000063127.16	transcript	ENST00000335875.9	protein_coding	1/11			chr19	TogoVar
SLC6A4_chr17_30189319_30240697	30221446	GGGTCACA others(43): Show GGGTCACAGCCCACCCCAGGTCACAGCCCACCCGGGTCACAGCCCATCCC A	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	286	0.0035	-50	c.343 others(65): Show c.343+120_343+169delTGGGATGGGCTGTGACCCGGGTGGGCTGTG ACCTGGGGTGGGCTGTGACC	SLC6A4	ENSG00000108576.10	transcript	ENST00000650711.1	protein_coding	3/14			chr17	TogoVar
SLC8A3_chr14_70039215_70193951	70192014	TTATTAAT others(43): Show TTATTAATAATAATAATAATTATTATTATTATTATTAATTATTATTATTA A	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00597.hp2 others(11): Show HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG02080.hp1 HG03239.hp1 NA18612.hp1 NA18944.hp1 NA18960.hp2 NA18962.hp2 NA18973.hp1 NA18993.hp2 NA18995.hp2 NA19005.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0001c0003t0001 a0006c0010t0001	a0001c0001t0001g0050 a0001c0001t0001g0198 a0001c0001t0001g0202 others(11): Show a0001c0001t0001g0050 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0002g0150 a0001c0001t0002g0173 a0001c0001t0002g0200 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0007g0183 a0001c0001t0007g0196 a0001c0002t0001g0192 a0001c0003t0001g0208 a0006c0010t0001g0193	14	296	0.0473	-50	c.-37 others(61): Show c.-3748_-3699delTTAATAATAATAATTAATAATAATAATAATAATT ATTATTATTATTAATA	SLC8A3	ENSG00000100678.20	transcript	ENST00000356921.7	protein_coding		3064		chr14	TogoVar
SLC9A6_chrX_135980435_136052269	136023163	GTATATAT others(43): Show GTATATATATATATATATATATATATATATATATATATATATATATATAT A	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	199	0.0050	-50	c.130 others(67): Show c.1306+477_1306+526delTATATATATATATATATATATATATATA TATATATATATATATATATATA	SLC9A6	ENSG00000198689.13	transcript	ENST00000630721.3	protein_coding	12/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLIT3_chr5_168656740_169306139	168726470	GGGAGGGA others(43): Show GGGAGGGAGGAAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGAGGGAGG C	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	132	0.0076	-50	c.227 others(69): Show c.2271-2036_2271-1987delGCCTCCCTCTCCCTCCCTGCCTCCCT CTCCCTCCCTCCCTTCCTCCCTCC	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SMAP2_chr1_40368727_40428322	40388458	CGACACTC others(43): Show CGACACTCTGTATCTAGCTACTCTGGTGGGGACTTGGAGAACCTTTGTGT G	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	400	0.0025	-50	c.103 others(69): Show c.103+14259_103+14308delGGTGGGGACTTGGAGAACCTTTGTGT GGACACTCTGTATCTAGCTACTCT	SMAP2	ENSG00000084070.12	transcript	ENST00000372718.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results