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
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19010.hp2 HG03486.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0128 a0001c0001t0001g0082 a0001c0001t0001g0128	2	26	0.0769	21	c.49+ others(38): Show c.49+20085_49+20086insATATATATATATATTTTTTTT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158623502	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	45	0.0222	21	c.756 others(38): Show c.756-3314_756-3294dupAAAAAAAAAAAAAAAAAAAAA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXRA_chr9_134321455_134445585	134368875	A A	ATGTGTGT others(14): Show ATGTGTGTGTGGGGGTTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp1 HG03195.hp2 others(1): Show HG01891.hp2 HG02559.hp1 HG03195.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 others(1): Show a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0060	a0001c0001t0008g0125 a0001c0001t0010g0122 a0001c0001t0011g0121 others(1): Show a0001c0001t0008g0125 a0001c0001t0010g0122 a0001c0001t0011g0121 a0001c0001t0060g0100	4	230	0.0174	21	c.29- others(38): Show c.29-32749_29-32748insTGGGGGTTGTGTGTGTGTGTG	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RXRB_chr6_33188588_33205665	33194092	G G	GCCCCTTC others(14): Show GCCCCTTCACCACCACCACCAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01123.hp2 HG02922.hp2 HG02965.hp1 others(2): Show HG01123.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0020 a0001c0003t0009 a0001c0003t0020	a0001c0003t0009g0013 a0001c0003t0020g0040 a0001c0003t0009g0013 a0001c0003t0020g0040	5	390	0.0128	21	c.56 others(30): Show c.569_*589dupGTGGTGGTGGTGGTGAAGGGG	RXRB	ENSG00000204231.11	transcript	ENST00000374680.4	protein_coding	10/10	589		chr6	TogoVar
RXRG_chr1_165395922_165450126	165406174	A A	ACTGCTAG others(14): Show ACTGCTAGATGGCCTCAGAGAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00408.hp1 others(180): Show HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02155.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18982.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0011 a0002c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0013 a0001c0003t0001 a0001c0003t0002 a0001c0003t0011 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0006t0001 a0001c0011t0001 a0002c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0023 others(136): Show a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0180 a0001c0001t0001g0269 a0001c0001t0001g0280 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0002g0066 a0001c0001t0002g0081 a0001c0001t0002g0264 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0003g0158 a0001c0001t0003g0160 a0001c0002t0001g0032 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0134 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0142 a0001c0002t0001g0164 a0001c0002t0001g0253 a0001c0002t0002g0005 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0017 a0001c0002t0002g0033 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0109 a0001c0002t0002g0114 a0001c0002t0002g0116 a0001c0002t0002g0119 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0143 a0001c0002t0002g0147 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0163 a0001c0002t0002g0165 a0001c0002t0002g0169 a0001c0002t0002g0252 a0001c0002t0003g0117 a0001c0002t0005g0145 a0001c0002t0005g0146 a0001c0002t0006g0113 a0001c0002t0007g0298 a0001c0002t0007g0299 a0001c0002t0007g0301 a0001c0002t0013g0297 a0001c0003t0001g0001 a0001c0003t0001g0025 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0038 a0001c0003t0001g0078 a0001c0003t0001g0101 a0001c0003t0001g0167 a0001c0003t0001g0168 a0001c0003t0001g0176 a0001c0003t0001g0178 a0001c0003t0001g0179 a0001c0003t0001g0182 a0001c0003t0001g0185 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 a0001c0003t0001g0190 a0001c0003t0001g0191 a0001c0003t0001g0193 a0001c0003t0001g0194 a0001c0003t0001g0196 a0001c0003t0001g0198 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0001g0201 a0001c0003t0001g0221 a0001c0003t0001g0230 a0001c0003t0001g0275 a0001c0003t0001g0283 a0001c0003t0001g0284 a0001c0003t0002g0075 a0001c0003t0002g0172 a0001c0003t0002g0175 a0001c0003t0002g0177 a0001c0003t0002g0183 a0001c0003t0002g0184 a0001c0003t0002g0197 a0001c0003t0002g0220 a0001c0003t0002g0286 a0001c0003t0011g0156 a0001c0004t0001g0047 a0001c0004t0001g0239 a0001c0004t0001g0245 a0001c0004t0001g0246 a0001c0004t0001g0248 a0001c0004t0002g0241 a0001c0005t0001g0046 a0001c0006t0001g0102 a0001c0006t0001g0144 a0001c0011t0001g0115 a0002c0009t0001g0293	183	325	0.5631	21	c.124 others(38): Show c.1244+617_1244+637dupATCTCTGAGGCCATCTAGCAG	RXRG	ENSG00000143171.13	transcript	ENST00000359842.10	protein_coding	9/9			chr1	TogoVar
RYK_chr3_134152133_134255859	134180862	C C	CTCAAGGA others(14): Show CTCAAGGACTGAATGCTCAGTA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0296 a0002c0002t0001g0296	1	374	0.0027	21	c.117 others(40): Show c.1172+2119_1172+2139dupTACTGAGCATTCAGTCCTTGA	RYK	ENSG00000163785.14	transcript	ENST00000623711.4	protein_coding	10/14			chr3	TogoVar
RYK_chr3_134152133_134255859	134238923	C C	CCGGAATC others(14): Show CCGGAATCTCTCTTGAATACTT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	374	0.0027	21	c.232 others(40): Show c.232+11479_232+11499dupAAGTATTCAAGAGAGATTCCG	RYK	ENSG00000163785.14	transcript	ENST00000623711.4	protein_coding	1/14			chr3	TogoVar
RYK_chr3_134152133_134255859	134249917	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	108	0.0093	21	c.232 others(36): Show c.232+485_232+505dupAAAAAAAAAAAAAAAAAAAAA	RYK	ENSG00000163785.14	transcript	ENST00000623711.4	protein_coding	1/14			chr3	TogoVar
RYR1_chr19_38428691_38592564	38520693	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0008 a0008	a0008c0038 a0008c0038	a0008c0038t0002 a0008c0038t0002	a0008c0038t0002g0212 a0008c0038t0002g0212	1	114	0.0088	21	c.102 others(42): Show c.10259+1245_10259+1265dupAAAAAAAAAAAAAAAAAAAAA	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	67/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR2_chr1_237037184_237838988	237346367	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0088 a0001c0001t0003g0088	1	71	0.0141	21	c.274 others(38): Show c.274-9581_274-9580insAAAAAAAAAAAAAAAAAAAAA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	3/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237401464	A A	AAGTATAA others(14): Show AAGTATAAGTATAAATAAGTAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03579.hp2 NA19043.hp2 HG01109.hp2 HG03579.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0014 a0001c0022 a0001c0002 a0001c0014 a0001c0022	a0001c0002t0003 a0001c0014t0032 a0001c0022t0009 a0001c0002t0003 a0001c0014t0032 a0001c0022t0009	a0001c0002t0003g0008 a0001c0014t0032g0031 a0001c0022t0009g0066 a0001c0002t0003g0008 a0001c0014t0032g0031 a0001c0022t0009g0066	3	100	0.0300	21	c.773 others(40): Show c.773+13281_773+13282insAGTATAAGTATAAATAAGTAT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	10/104			chr1	TogoVar
RYR2_chr1_237037184_237838988	237436454	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0001 a0001c0045t0001	a0001c0045t0001g0073 a0001c0045t0001g0073	1	24	0.0417	21	c.100 others(40): Show c.1006-4861_1006-4841dupTTTTTTTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	12/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237623386	T T	TCTTTCTT others(14): Show TCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03516.hp1 HG01261.hp2 HG03516.hp1	a0001 a0001	a0001c0017 a0001c0019 a0001c0017 a0001c0019	a0001c0017t0034 a0001c0019t0019 a0001c0017t0034 a0001c0019t0019	a0001c0017t0034g0032 a0001c0019t0019g0035 a0001c0017t0034g0032 a0001c0019t0019g0035	2	77	0.0260	21	c.591 others(38): Show c.5917-379_5917-378insCTTTCTTTCTTTCTTTCTTTC	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	38/104			chr1	TogoVar
RYR3_chr15_33305967_33871102	33705101	T T	TCTCTCTC others(14): Show TCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02723.hp2 HG01071.hp2 HG02723.hp2	a0003 a0012 a0003 a0012	a0003c0043 a0012c0011 a0003c0043 a0012c0011	a0003c0043t0001 a0012c0011t0009 a0003c0043t0001 a0012c0011t0009	a0003c0043t0001g0106 a0012c0011t0009g0068 a0003c0043t0001g0106 a0012c0011t0009g0068	2	12	0.1667	21	c.648 others(40): Show c.6484-1818_6484-1817insCTCTCTCTCTCTCTCTCTCTC	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	42/103			chr15	TogoVar
RYR3_chr15_33305967_33871102	33789658	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0003 a0003c0012t0003	a0003c0012t0003g0113 a0003c0012t0003g0113	1	79	0.0127	21	c.983 others(40): Show c.9830+1201_9830+1202insATATATATATATATATATATT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789658	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0005 a0004c0006t0005	a0004c0006t0005g0098 a0004c0006t0005g0098	1	79	0.0127	21	c.983 others(40): Show c.9830+1201_9830+1202insATATATATATATATATTTTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789658	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0053 a0053	a0053c0067 a0053c0067	a0053c0067t0004 a0053c0067t0004	a0053c0067t0004g0069 a0053c0067t0004g0069	1	79	0.0127	21	c.983 others(40): Show c.9830+1201_9830+1202insATATATATATATATTTTTTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
S100A7_chr1_153452744_153465651	153465116	A A	AGTGGCTC others(14): Show AGTGGCTCTATGGCAACACAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02280.hp1 HG03209.hp1 HG02258.hp2 HG02280.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	3	418	0.0072	21	c.-45 others(32): Show c.-4527_-4526insCCTGTGTTGCCATAGAGCCAC	S100A7	ENSG00000143556.9	transcript	ENST00000368723.4	protein_coding		4466		chr1	TogoVar
SAA1_chr11_18261264_18274967	18264800	A A	AGGGGAGG others(14): Show AGGGGAGGGGAGGGGAGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	1	439	0.0023	21	c.-15 others(32): Show c.-1501_-1500insGGGGAGGGGAGGGGAGGGGAG	SAA1	ENSG00000173432.13	transcript	ENST00000356524.9	protein_coding		1463		chr11	TogoVar
SAAL1_chr11_18075292_18111082	18076631	A A	AAAAAGAA others(14): Show AAAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02717.hp1 HG01891.hp1 HG02717.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0068 a0004c0004t0001g0069 a0004c0004t0001g0068 a0004c0004t0001g0069	2	222	0.0090	21	c.37 others(32): Show c.3767_*3768insCTTTCTTTCTTTCTTTCTTTT	SAAL1	ENSG00000166788.10	transcript	ENST00000524803.6	protein_coding		3660		chr11	TogoVar
SAAL1_chr11_18075292_18111082	18076631	A A	AGAAAGAA others(14): Show AGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG02559.hp1 HG02735.hp1 HG01433.hp2 HG02559.hp1 HG02735.hp1	a0003 a0007 a0003 a0007	a0003c0003 a0007c0012 a0003c0003 a0007c0012	a0003c0003t0001 a0007c0012t0001 a0003c0003t0001 a0007c0012t0001	a0003c0003t0001g0009 a0003c0003t0001g0113 a0007c0012t0001g0038 a0003c0003t0001g0009 a0003c0003t0001g0113 a0007c0012t0001g0038	3	223	0.0135	21	c.37 others(32): Show c.3767_*3768insCTTTCTTTCTTTCTTTCTTTC	SAAL1	ENSG00000166788.10	transcript	ENST00000524803.6	protein_coding		3660		chr11	TogoVar
SAC3D1_chr11_65036210_65049828	65039029	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG03195.hp2 HG03225.hp1 others(2): Show HG02055.hp1 HG03195.hp2 HG03225.hp1 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0020 a0001c0002t0001g0035 others(1): Show a0001c0002t0001g0016 a0001c0002t0001g0020 a0001c0002t0001g0035 a0001c0002t0001g0038	5	176	0.0284	21	c.-22 others(32): Show c.-2264_-2263insTTTTTTTTTTTTTTTTTTTTT	SAC3D1	ENSG00000168061.17	transcript	ENST00000652489.1	protein_coding		2180		chr11	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02683.hp1 HG02132.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0033 a0001c0002t0005g0147 a0001c0002t0002g0033 a0001c0002t0005g0147	2	54	0.0370	21	c.-28 others(32): Show c.-2803_-2802insTATATATATATATATTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACS_chr13_23323830_23438702	23353029	A A	ACCCAGAA others(14): Show ACCCAGAACTTTTCAGGACAAC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01496.hp1 HG02723.hp2 others(3): Show HG01361.hp1 HG01496.hp1 HG02723.hp2 HG02922.hp1 HG03540.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0006 a0001c0002 a0001c0003 a0001c0006	a0001c0002t0002 a0001c0003t0001 a0001c0006t0019 a0001c0002t0002 a0001c0003t0001 a0001c0006t0019	a0001c0002t0002g0081 a0001c0003t0001g0003 a0001c0003t0001g0326 others(2): Show a0001c0002t0002g0081 a0001c0003t0001g0003 a0001c0003t0001g0326 a0001c0003t0001g0363 a0001c0006t0019g0222	6	374	0.0160	21	c.218 others(38): Show c.2185+735_2185+755dupGTTGTCCTGAAAAGTTCTGGG	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	9/9			chr13	TogoVar
SAMD10_chr20_63969116_63984642	63976764	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0040 a0001c0002t0004g0040	1	51	0.0196	21	c.445 others(36): Show c.445+186_445+206dupTTTTTTTTTTTTTTTTTTTTT	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding	3/4			chr20	TogoVar
SAMD11_chr1_918923_949574	930081	A A	AGCCCCAC others(14): Show AGCCCCACCTTCCTCTCCTCCT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18945.hp1 NA18960.hp1 NA18998.hp2 NA18945.hp1 NA18960.hp1 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0332 a0001c0002t0002g0333 a0001c0002t0002g0346 a0001c0002t0002g0332 a0001c0002t0002g0333 a0001c0002t0002g0346	3	431	0.0070	21	c.610 others(33): Show c.610-23_610-3dupTTCCTCTCCTCCTGCCCCACC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD4A_chr14_54562128_54798312	54739055	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03225.hp2 HG02559.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0027 a0001c0017t0021 a0001c0001t0027 a0001c0017t0021	a0001c0001t0027g0228 a0001c0017t0021g0038 a0001c0001t0027g0228 a0001c0017t0021g0038	2	19	0.1053	21	c.979 others(38): Show c.979+1787_979+1788insTTTTTTTTTTTTTTTTTTTTT	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAP130_chr2_127936222_128033059	127947801	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	346	0.0029	21	c.279 others(40): Show c.2797+2067_2797+2068insCACACACACACACACACACAC	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	18/20			chr2	TogoVar
SAP130_chr2_127936222_128033059	128003957	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	1	74	0.0135	21	c.870 others(38): Show c.870-3524_870-3504dupAAAAAAAAAAAAAAAAAAAAA	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	7/20			chr2	TogoVar
SAPCD2_chr9_137057127_137075557	137070668	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG03516.hp1 HG02451.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0024 a0001c0001t0006g0024	2	5	0.4000	21	c.-20 others(30): Show c.-209_-208insAAAAAAAAAAAAAAAAAAAAA	SAPCD2	ENSG00000186193.9	transcript	ENST00000409687.5	protein_coding		112		chr9	TogoVar
SAR1A_chr10_70142289_70175514	70149547	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0095	a0001c0001t0095g0233 a0001c0001t0095g0233	1	24	0.0417	21	c.29 others(32): Show c.2908_*2928dupAAAAAAAAAAAAAAAAAAAAA	SAR1A	ENSG00000079332.16	transcript	ENST00000373241.9	protein_coding	7/7	2928		chr10	TogoVar
SAR1B_chr5_134596149_134637828	134612641	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	11	0.0909	21	c.244 others(34): Show c.244+29_244+49dupTTTTTTTTTTTTTTTTTTTTT	SAR1B	ENSG00000152700.14	transcript	ENST00000402673.7	protein_coding	4/6			chr5	TogoVar
SARDH_chr9_133658560_133743352	133726368	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00621.hp1 others(22): Show HG00099.hp1 HG00280.hp2 HG00621.hp1 HG01081.hp1 HG01106.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01943.hp2 HG02451.hp2 HG02572.hp2 HG02818.hp2 HG03041.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp2 HG03579.hp1 HG03654.hp2 HG04115.hp1 HG04228.hp1 NA18983.hp1 NA19043.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0012	a0001c0001 a0001c0006 a0001c0016 others(13): Show a0001c0001 a0001c0006 a0001c0016 a0001c0031 a0002c0002 a0002c0005 a0002c0008 a0002c0015 a0002c0018 a0002c0025 a0002c0034 a0003c0003 a0003c0009 a0003c0026 a0004c0067 a0012c0066	a0001c0001t0001 a0001c0006t0002 a0001c0016t0001 others(15): Show a0001c0001t0001 a0001c0006t0002 a0001c0016t0001 a0001c0031t0001 a0002c0002t0001 a0002c0005t0001 a0002c0005t0002 a0002c0008t0001 a0002c0015t0001 a0002c0018t0002 a0002c0025t0001 a0002c0034t0002 a0003c0003t0001 a0003c0003t0002 a0003c0009t0001 a0003c0026t0001 a0004c0067t0002 a0012c0066t0001	a0001c0001t0001g0150 a0001c0006t0002g0152 a0001c0016t0001g0247 others(22): Show a0001c0001t0001g0150 a0001c0006t0002g0152 a0001c0016t0001g0247 a0001c0031t0001g0243 a0002c0002t0001g0204 a0002c0005t0001g0114 a0002c0005t0002g0097 a0002c0005t0002g0115 a0002c0005t0002g0125 a0002c0008t0001g0044 a0002c0015t0001g0113 a0002c0018t0002g0120 a0002c0018t0002g0127 a0002c0025t0001g0090 a0002c0034t0002g0062 a0002c0034t0002g0153 a0003c0003t0001g0254 a0003c0003t0002g0005 a0003c0003t0002g0076 a0003c0003t0002g0157 a0003c0003t0002g0246 a0003c0009t0001g0060 a0003c0026t0001g0259 a0004c0067t0002g0236 a0012c0066t0001g0233	25	168	0.1488	21	c.915 others(38): Show c.915+3376_915+3396dupATTATTATTATTATTATTATT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	6/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133726394	A A	ATAATAAT others(14): Show ATAATAATAATAATAATAATAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp2 HG00642.hp1 others(27): Show HG00323.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG01081.hp2 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01346.hp1 HG01517.hp2 HG01943.hp1 HG02040.hp1 HG02129.hp1 HG02155.hp2 HG02280.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02922.hp1 HG03017.hp2 HG03225.hp2 NA18980.hp1 NA18983.hp2 NA18998.hp1 NA18999.hp1 NA19007.hp2 NA19067.hp1 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0007 a0001c0016 others(12): Show a0001c0001 a0001c0007 a0001c0016 a0001c0033 a0001c0051 a0001c0052 a0002c0002 a0002c0004 a0002c0010 a0002c0014 a0002c0020 a0003c0003 a0003c0013 a0003c0054 a0004c0023	a0001c0001t0001 a0001c0001t0005 a0001c0007t0001 others(14): Show a0001c0001t0001 a0001c0001t0005 a0001c0007t0001 a0001c0016t0002 a0001c0033t0001 a0001c0051t0001 a0001c0052t0001 a0002c0002t0001 a0002c0004t0001 a0002c0010t0001 a0002c0014t0001 a0002c0020t0001 a0002c0020t0002 a0003c0003t0001 a0003c0013t0002 a0003c0054t0001 a0004c0023t0001	a0001c0001t0001g0080 a0001c0001t0001g0147 a0001c0001t0001g0151 others(26): Show a0001c0001t0001g0080 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0197 a0001c0001t0001g0206 a0001c0001t0005g0198 a0001c0007t0001g0158 a0001c0007t0001g0161 a0001c0016t0002g0183 a0001c0033t0001g0146 a0001c0051t0001g0033 a0001c0052t0001g0144 a0002c0002t0001g0002 a0002c0002t0001g0186 a0002c0004t0001g0077 a0002c0010t0001g0078 a0002c0014t0001g0185 a0002c0014t0001g0199 a0002c0020t0001g0179 a0002c0020t0002g0018 a0003c0003t0001g0143 a0003c0013t0002g0054 a0003c0054t0001g0145 a0004c0023t0001g0235	30	150	0.2000	21	c.915 others(38): Show c.915+3370_915+3371insCTATTATTATTATTATTATTA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	6/20			chr9	TogoVar
SARNP_chr12_55752270_55822724	55774558	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA19240.hp1 HG02055.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0046 a0001c0001t0001g0052	2	165	0.0121	21	c.502 others(40): Show c.502-13919_502-13918insTTTTTTTTTTTTTTTTTTTTT	SARNP	ENSG00000205323.9	transcript	ENST00000336133.8	protein_coding	9/10			chr12	TogoVar
SARS1_chr1_109208918_109243182	109226677	A A	ATATATAT others(14): Show ATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	253	0.0040	21	c.208 others(38): Show c.208-1675_208-1674insTATATATATATATATATATAC	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	2/10			chr1	TogoVar
SARS2_chr19_38910266_38935763	38927945	A A	AGAGAGAG others(14): Show AGAGAGAGATACACACAGACTG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0100 a0001c0001t0005g0100	1	418	0.0024	21	c.268 others(38): Show c.268-1646_268-1645insCAGTCTGTGTGTATCTCTCTC	SARS2	ENSG00000104835.15	transcript	ENST00000221431.11	protein_coding	1/15			chr19	TogoVar
SASH1_chr6_148337838_148557044	148387636	C C	CTTCCTTC others(14): Show CTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02257.hp1 HG01258.hp2 HG02257.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0013 a0002c0005t0006 a0001c0001t0013 a0002c0005t0006	a0001c0001t0013g0157 a0002c0005t0006g0113 a0001c0001t0013g0157 a0002c0005t0006g0113	2	310	0.0065	21	c.157 others(38): Show c.157-2496_157-2495insCCTTCCTTCCTTCCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387640	C C	CTTCCTTC others(14): Show CTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02056.hp2 HG02683.hp1 others(4): Show HG01433.hp2 HG02056.hp2 HG02683.hp1 HG03490.hp2 HG03492.hp1 HG06807.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0007 a0002c0002 others(1): Show a0001c0001 a0001c0007 a0002c0002 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0007t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0007t0005 a0002c0002t0001 a0002c0002t0004 a0003c0006t0001	a0001c0001t0001g0177 a0001c0001t0002g0114 a0001c0007t0005g0059 others(4): Show a0001c0001t0001g0177 a0001c0001t0002g0114 a0001c0007t0005g0059 a0002c0002t0001g0048 a0002c0002t0004g0082 a0003c0006t0001g0072 a0003c0006t0001g0073	7	306	0.0229	21	c.157 others(38): Show c.157-2492_157-2491insCCTTCCTTCCTTCCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387644	C C	CTTCCTTC others(14): Show CTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0182 a0002c0002t0004g0182	1	304	0.0033	21	c.157 others(38): Show c.157-2488_157-2487insCCTTCCTTCCTTCCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148421149	G G	GGAAGGAA others(14): Show GGAAGGAAGGAAGGAAGGAAGA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0160 a0002c0002t0003g0160	1	319	0.0031	21	c.286 others(40): Show c.286-19035_286-19034insGAAGGAAGGAAGGAAGGAAGA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	2/19			chr6	TogoVar
SASH1_chr6_148337838_148557044	148449078	C C	CTTTTTCT others(14): Show CTTTTTCTTTTTTTTTTTTCTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02723.hp2 HG02976.hp2 others(3): Show HG01891.hp2 HG02723.hp2 HG02976.hp2 HG03471.hp2 NA19043.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004	a0001c0001t0005 a0001c0001t0007 a0001c0003t0005 others(3): Show a0001c0001t0005 a0001c0001t0007 a0001c0003t0005 a0001c0003t0007 a0002c0002t0004 a0002c0004t0015	a0001c0001t0005g0269 a0001c0001t0007g0061 a0001c0003t0005g0306 others(3): Show a0001c0001t0005g0269 a0001c0001t0007g0061 a0001c0003t0005g0306 a0001c0003t0007g0270 a0002c0002t0004g0082 a0002c0004t0015g0293	6	123	0.0488	21	c.386 others(38): Show c.386+8676_386+8677insCTTTTTTTTTTTTCTTTTTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148456873	C C	CAATAATA others(14): Show CAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00733.hp1 HG01943.hp2 others(2): Show HG00609.hp2 HG00733.hp1 HG01943.hp2 HG03017.hp1 HG03239.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0025 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0025 a0002c0002t0004	a0001c0001t0001g0033 a0001c0001t0002g0142 a0001c0001t0002g0154 others(2): Show a0001c0001t0001g0033 a0001c0001t0002g0142 a0001c0001t0002g0154 a0001c0001t0025g0005 a0002c0002t0004g0211	5	117	0.0427	21	c.387 others(40): Show c.387-11664_387-11644dupATAATAATAATAATAATAATA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH3_chrX_129774949_129800201	129789105	A A	AGAAAGAA others(14): Show AGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	209	0.0048	21	c.300 others(36): Show c.300+528_300+529insGAAAGAAAGAAAGAAAGAAAG	SASH3	ENSG00000122122.10	transcript	ENST00000356892.4	protein_coding	3/7			chrX	TogoVar
SATB1_chr3_18340377_18430339	18344358	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0162 a0001c0001t0003g0162	1	63	0.0159	21	c.47 others(32): Show c.4791_*4811dupAAAAAAAAAAAAAAAAAAAAA	SATB1	ENSG00000182568.18	transcript	ENST00000338745.11	protein_coding		1018		chr3	TogoVar
SATL1_chrX_85087284_85248779	85118087	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00642.hp1 HG01071.hp2 others(34): Show HG00609.hp1 HG00642.hp1 HG01071.hp2 HG01192.hp1 HG01433.hp1 HG01943.hp1 HG02027.hp1 HG02040.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02738.hp1 HG02922.hp1 HG03098.hp1 HG03453.hp1 HG03486.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 NA18747.hp1 NA18906.hp2 NA18943.hp1 NA18948.hp1 NA18954.hp1 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18990.hp1 NA18998.hp1 NA19007.hp1 NA19065.hp1 NA19083.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0002c0006 others(1): Show a0001c0001 a0001c0002 a0002c0006 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0002c0006t0001 a0006c0010t0002	a0001c0001t0001g0003 a0001c0001t0001g0084 a0001c0001t0001g0087 others(33): Show a0001c0001t0001g0003 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0128 a0001c0001t0001g0148 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0002g0028 a0001c0001t0002g0031 a0001c0002t0001g0198 a0002c0006t0001g0189 a0006c0010t0002g0050	37	170	0.2176	21	c.-31 others(40): Show c.-312-8808_-312-8807insAAAAAAAAAAAAAAAAAAAAA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	2/7			chrX	TogoVar
SAXO1_chr9_18922650_19038209	18980558	A A	AGAGGAGG others(14): Show AGAGGAGGAGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0030 a0002c0002t0030	a0002c0002t0030g0236 a0002c0002t0030g0236	1	122	0.0082	21	c.39- others(38): Show c.39-29622_39-29621insCTCCTCCTCCTCCTCCTCCTC	SAXO1	ENSG00000155875.15	transcript	ENST00000380534.9	protein_coding	1/3			chr9	TogoVar
SBF2_chr11_9773668_10299219	9794676	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	24	0.0417	21	c.457 others(40): Show c.4570+1134_4570+1154dupTTTTTTTTTTTTTTTTTTTTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	33/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10166989	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02004.hp2 HG00544.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0030 a0001c0001t0003g0026 a0001c0001t0003g0030	2	221	0.0090	21	c.141 others(40): Show c.141+26912_141+26913insGTGTGTGTGTGTGTGTGTGTG	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	2/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10196866	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02970.hp1 HG02055.hp1 HG02970.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0209 a0001c0005t0001g0210 a0001c0005t0001g0209 a0001c0005t0001g0210	2	13	0.1538	21	c.56- others(36): Show c.56-2880_56-2879insAAAAAAAAAAATATATATATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar

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