Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

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
RTN4RL1_chr17_1929677_2030334	1947008	GTGTGAAT others(35): Show GTGTGAATGTGTCTGTGTGTGCACATGTGTCTGTGTGCGTCTC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(118): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00544.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02257.hp2 HG02280.hp2 HG02486.hp1 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02886.hp1 HG02922.hp1 HG02976.hp2 HG03017.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03669.hp1 HG03704.hp1 HG03942.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp2 NA18944.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18959.hp1 NA18961.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18990.hp2 NA19000.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19091.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0009 a0002c0005 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(49): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0022 a0001c0001t0023 a0001c0001t0045 a0001c0001t0046 a0001c0001t0051 a0001c0001t0087 a0001c0001t0088 a0001c0001t0091 a0001c0001t0095 a0001c0001t0097 a0001c0001t0098 a0001c0001t0100 a0001c0001t0101 a0001c0001t0106 a0001c0001t0111 a0001c0001t0113 a0001c0001t0122 a0001c0001t0128 a0001c0001t0135 a0001c0001t0136 a0001c0002t0007 a0001c0002t0010 a0001c0002t0029 a0001c0002t0035 a0001c0002t0036 a0001c0002t0038 a0001c0002t0040 a0001c0002t0058 a0001c0002t0064 a0001c0002t0066 a0001c0002t0068 a0001c0002t0071 a0001c0002t0072 a0001c0002t0077 a0001c0002t0078 a0001c0002t0080 a0001c0003t0026 a0001c0006t0054 a0001c0009t0134 a0002c0005t0006 a0003c0004t0010 a0003c0004t0035	a0001c0001t0001g0139 a0001c0001t0002g0065 a0001c0001t0002g0117 others(118): Show a0001c0001t0001g0139 a0001c0001t0002g0065 a0001c0001t0002g0117 a0001c0001t0002g0185 a0001c0001t0002g0262 a0001c0001t0002g0279 a0001c0001t0002g0327 a0001c0001t0002g0346 a0001c0001t0002g0351 a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0366 a0001c0001t0003g0008 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0003g0023 a0001c0001t0003g0210 a0001c0001t0003g0213 a0001c0001t0003g0234 a0001c0001t0003g0253 a0001c0001t0003g0274 a0001c0001t0003g0276 a0001c0001t0003g0285 a0001c0001t0003g0299 a0001c0001t0003g0302 a0001c0001t0003g0374 a0001c0001t0005g0055 a0001c0001t0005g0064 a0001c0001t0005g0124 a0001c0001t0005g0134 a0001c0001t0005g0150 a0001c0001t0005g0161 a0001c0001t0005g0244 a0001c0001t0005g0257 a0001c0001t0005g0310 a0001c0001t0005g0320 a0001c0001t0005g0326 a0001c0001t0005g0331 a0001c0001t0006g0007 a0001c0001t0006g0010 a0001c0001t0006g0011 a0001c0001t0006g0036 a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0059 a0001c0001t0006g0063 a0001c0001t0006g0068 a0001c0001t0006g0182 a0001c0001t0006g0222 a0001c0001t0006g0239 a0001c0001t0006g0252 a0001c0001t0006g0282 a0001c0001t0008g0052 a0001c0001t0008g0121 a0001c0001t0008g0267 a0001c0001t0008g0315 a0001c0001t0008g0317 a0001c0001t0011g0033 a0001c0001t0011g0043 a0001c0001t0011g0305 a0001c0001t0012g0353 a0001c0001t0013g0313 a0001c0001t0017g0075 a0001c0001t0022g0241 a0001c0001t0023g0041 a0001c0001t0023g0295 a0001c0001t0045g0196 a0001c0001t0045g0221 a0001c0001t0046g0164 a0001c0001t0046g0229 a0001c0001t0051g0301 a0001c0001t0087g0032 a0001c0001t0088g0149 a0001c0001t0091g0195 a0001c0001t0095g0050 a0001c0001t0097g0219 a0001c0001t0098g0288 a0001c0001t0100g0024 a0001c0001t0101g0145 a0001c0001t0106g0283 a0001c0001t0111g0341 a0001c0001t0113g0103 a0001c0001t0122g0319 a0001c0001t0128g0270 a0001c0001t0135g0330 a0001c0001t0136g0378 a0001c0002t0007g0009 a0001c0002t0007g0069 a0001c0002t0007g0165 a0001c0002t0007g0247 a0001c0002t0007g0248 a0001c0002t0007g0360 a0001c0002t0010g0077 a0001c0002t0010g0147 a0001c0002t0010g0151 a0001c0002t0010g0194 a0001c0002t0010g0238 a0001c0002t0029g0230 a0001c0002t0035g0026 a0001c0002t0036g0263 a0001c0002t0038g0087 a0001c0002t0038g0129 a0001c0002t0040g0104 a0001c0002t0040g0107 a0001c0002t0058g0228 a0001c0002t0064g0271 a0001c0002t0066g0014 a0001c0002t0068g0166 a0001c0002t0071g0116 a0001c0002t0072g0105 a0001c0002t0077g0154 a0001c0002t0078g0106 a0001c0002t0080g0344 a0001c0003t0026g0206 a0001c0006t0054g0047 a0001c0006t0054g0373 a0001c0009t0134g0300 a0002c0005t0006g0017 a0003c0004t0010g0281 a0003c0004t0035g0251	121	382	0.3168	-42	c.14- others(57): Show c.14-9242_14-9201delGAGACGCACACAGACACATGTGCACACACA GACACATTCACA	RTN4RL1	ENSG00000185924.7	transcript	ENST00000331238.7	protein_coding	1/1			chr17	TogoVar
RUNX1_chr21_34782801_35054302	34907825	CAGAGGCG others(35): Show CAGAGGCGAAAAGATTCTTAGCAAACATTGGGTCATTTTGTTT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	168	0.0060	-42	c.59- others(59): Show c.59-14904_59-14863delAAACAAAATGACCCAATGTTTGCTAAGA ATCTTTTCGCCTCT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RXFP4_chr1_155936638_155948087	155945097	TGGAACAC others(35): Show TGGAACACCAAGCCAAATGGCTTTGAAACTTCAGCAGGAGGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	310	0.0032	-42	c.22 others(53): Show c.2264_*2305delGGAACACCAAGCCAAATGGCTTTGAAACTTCAGC AGGAGGGA	RXFP4	ENSG00000173080.6	transcript	ENST00000368318.5	protein_coding		2011		chr1	TogoVar
RXRA_chr9_134321455_134445585	134368900	GTGTGTGG others(35): Show GTGTGTGGGGGTTGTGTGTGTGTGTGAGTGCGGGGGTTATGTA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0172 a0001c0001t0024g0172	1	230	0.0043	-42	c.29- others(59): Show c.29-32725_29-32684delGGGGTTGTGTGTGTGTGTGAGTGCGGGG GTTATGTATGTGTG	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RYR1_chr19_38428691_38592564	38502772	GGCAGGGG others(35): Show GGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03139.hp1 NA20300.hp1 HG02965.hp1 HG03139.hp1 NA20300.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0006 a0007c0010t0001g0007 a0007c0010t0001g0008 a0007c0010t0001g0006 a0007c0010t0001g0007 a0007c0010t0001g0008	3	216	0.0139	-42	c.783 others(57): Show c.7835+62_7836-50delGGGCAGGGGCAGGGGCAGGGGGAGGAGCAG GGGCAGGGGCAG	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	48/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR2_chr1_237037184_237838988	237380359	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0004 a0001c0011t0004	a0001c0011t0004g0064 a0001c0011t0004g0064	1	17	0.0588	-42	c.576 others(59): Show c.576+2946_576+2987delTATATATATATATATATATATATATATA TATATATATATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	8/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
S100A13_chr1_153613799_153632505	153619856	AAAAGACT others(35): Show AAAAGACTTTTTTTTAAGTTACAACCACGTTTAATTATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	372	0.0027	-42	c.154 others(57): Show c.154-860_154-819delATTTTATAATTAAACGTGGTTGTAACTTAA AAAAAAGTCTTT	S100A13	ENSG00000189171.15	transcript	ENST00000476133.6	protein_coding	2/2			chr1	TogoVar
S100A14_chr1_153609255_153621325	153619856	AAAAGACT others(35): Show AAAAGACTTTTTTTTAAGTTACAACCACGTTTAATTATAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	392	0.0026	-42	c.-36 others(53): Show c.-3682_-3641delATTTTATAATTAAACGTGGTTGTAACTTAAAAAA AAGTCTTT	S100A14	ENSG00000189334.9	transcript	ENST00000344616.4	protein_coding		3532		chr1	TogoVar
S100Z_chr5_76845014_76926650	76906968	GTGTGTGT others(35): Show GTGTGTGTGTATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01243.hp2 HG01891.hp1 others(15): Show HG00642.hp2 HG01243.hp2 HG01891.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02615.hp2 HG02647.hp2 HG02723.hp1 HG02886.hp1 HG02922.hp1 HG02970.hp1 HG03486.hp2 HG03516.hp2 NA19043.hp1 NA19240.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 others(4): Show a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0002c0001t0001 a0002c0001t0006 a0002c0001t0007 a0002c0001t0012	a0001c0002t0003g0046 a0001c0002t0003g0123 a0001c0002t0003g0151 others(15): Show a0001c0002t0003g0046 a0001c0002t0003g0123 a0001c0002t0003g0151 a0001c0002t0003g0152 a0001c0002t0006g0070 a0001c0002t0006g0104 a0001c0002t0007g0317 a0002c0001t0001g0062 a0002c0001t0001g0190 a0002c0001t0006g0051 a0002c0001t0006g0140 a0002c0001t0006g0222 a0002c0001t0006g0223 a0002c0001t0006g0265 a0002c0001t0007g0065 a0002c0001t0007g0262 a0002c0001t0012g0014 a0002c0001t0012g0189	18	322	0.0559	-42	c.3- others(59): Show c.3-13747_*3-13706delGTGTGTGTATATATATATATATATATAT ATATATATATATAT	S100Z	ENSG00000171643.14	transcript	ENST00000317593.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
S1PR4_chr19_3173769_3185332	3182591	AACTCCTG others(35): Show AACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTTCTGAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	416	0.0024	-42	c.26 others(53): Show c.2645_*2686delACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCC TTCTGAAT	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		2260		chr19	TogoVar
SAMD12_chr8_118372984_118626963	118605765	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02886.hp1 HG02965.hp1 others(3): Show HG02257.hp1 HG02886.hp1 HG02965.hp1 HG03098.hp1 HG03139.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001	a0001c0001t0002g0061 a0001c0001t0003g0055 a0001c0001t0004g0054 others(3): Show a0001c0001t0002g0061 a0001c0001t0003g0055 a0001c0001t0004g0054 a0001c0001t0004g0073 a0001c0001t0006g0053 a0001c0002t0001g0072	6	7	0.8571	-42	c.13+ others(59): Show c.13+15997_13+16038delATATATATATATATATATATATATATAT ATATATATATATAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	1/3			chr8	TogoVar
SAMD4A_chr14_54562128_54798312	54678433	TTGTGTGT others(35): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01981.hp2 HG02056.hp1 others(9): Show HG01496.hp1 HG01981.hp2 HG02056.hp1 HG02280.hp1 HG02572.hp2 HG02897.hp1 HG02922.hp2 HG03225.hp1 HG03704.hp2 NA18979.hp1 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0014 a0001c0001 a0001c0005 a0001c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0014 a0001c0001t0022 a0001c0001t0043 a0001c0001t0051 a0001c0001t0065 a0001c0005t0076 a0001c0014t0031	a0001c0001t0001g0059 a0001c0001t0003g0205 a0001c0001t0004g0049 others(9): Show a0001c0001t0001g0059 a0001c0001t0003g0205 a0001c0001t0004g0049 a0001c0001t0004g0108 a0001c0001t0009g0133 a0001c0001t0014g0039 a0001c0001t0022g0002 a0001c0001t0043g0067 a0001c0001t0051g0251 a0001c0001t0065g0246 a0001c0005t0076g0158 a0001c0014t0031g0023	12	49	0.2449	-42	c.197 others(61): Show c.197-23587_197-23546delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGT	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAPCD2_chr9_137057127_137075557	137063492	ACACTGAC others(35): Show ACACTGACCCCGCATCGGCATCGGGGGCCCTGCGCCCCCCACG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(183): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG01071.hp1 HG01074.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01346.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18947.hp2 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18987.hp2 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19084.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0002c0004 others(3): Show a0001c0001 a0002c0002 a0002c0004 a0002c0007 a0003c0003 a0004c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(20): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0016 a0001c0001t0034 a0002c0002t0001 a0002c0002t0005 a0002c0002t0013 a0002c0002t0015 a0002c0002t0017 a0002c0002t0020 a0002c0002t0023 a0002c0002t0024 a0002c0002t0025 a0002c0002t0027 a0002c0002t0028 a0002c0002t0029 a0002c0002t0031 a0002c0002t0033 a0002c0004t0001 a0002c0007t0005 a0003c0003t0007 a0004c0005t0001	a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0087 others(58): Show a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0111 a0001c0001t0005g0086 a0001c0001t0007g0037 a0001c0001t0007g0127 a0001c0001t0016g0025 a0001c0001t0034g0136 a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0009 a0002c0002t0001g0013 a0002c0002t0001g0018 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0031 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0057 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0075 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0005g0005 a0002c0002t0005g0032 a0002c0002t0005g0054 a0002c0002t0005g0055 a0002c0002t0005g0072 a0002c0002t0013g0056 a0002c0002t0013g0059 a0002c0002t0013g0083 a0002c0002t0015g0019 a0002c0002t0017g0029 a0002c0002t0020g0058 a0002c0002t0023g0045 a0002c0002t0024g0060 a0002c0002t0025g0073 a0002c0002t0027g0061 a0002c0002t0028g0062 a0002c0002t0029g0063 a0002c0002t0031g0074 a0002c0002t0033g0064 a0002c0004t0001g0030 a0002c0007t0005g0071 a0003c0003t0007g0039 a0003c0003t0007g0137 a0003c0003t0007g0138 a0003c0003t0007g0139 a0004c0005t0001g0036	186	412	0.4515	-42	c.11 others(53): Show c.1125_*1166delCGTGGGGGGCGCAGGGCCCCCGATGCCGATGCGG GGTCAGTG	SAPCD2	ENSG00000186193.9	transcript	ENST00000409687.5	protein_coding	6/6	1125		chr9	TogoVar
SARDH_chr9_133658560_133743352	133668284	CCTCCCTC others(35): Show CCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCCCACCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0214 a0001c0006t0001g0214	1	259	0.0039	-42	c.249 others(61): Show c.2496-1456_2496-1415delAGGGAGGGTGGGGGAGAGGGAGGGAG AGGGAGGGAGAGGGAG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669193	ACCCTCCA others(35): Show ACCCTCCATCTCCCTCACCCTCCCTCTCCCTTACCCTCCCTCT	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG03239.hp1 HG01943.hp2 HG03239.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0002 a0002c0018t0002	a0002c0018t0002g0120 a0002c0018t0002g0127 a0002c0018t0002g0120 a0002c0018t0002g0127	2	259	0.0077	-42	c.249 others(61): Show c.2495+1349_2495+1390delAGAGGGAGGGTAAGGGAGAGGGAGGG TGAGGGAGATGGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SATB2_chr2_199264505_199462939	199386698	GCGCGCGC others(35): Show GCGCGCGCGCGCGCGCGCGCACACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG02897.hp1 others(7): Show HG02258.hp1 HG02280.hp1 HG02897.hp1 HG03139.hp1 HG03540.hp2 HG03579.hp2 HG06807.hp1 NA19030.hp1 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 others(7): Show a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0029	10	252	0.0397	-42	c.347 others(59): Show c.347-4920_347-4879delTGTGTGTGTGTGTGTGTGTGTGTGCGCG CGCGCGCGCGCGCG	SATB2	ENSG00000119042.18	transcript	ENST00000417098.6	protein_coding	3/10			chr2	TogoVar
SCAMP1_chr5_78355617_78485739	78430140	CAGTATTT others(35): Show CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTA	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0010 a0001c0001t0023g0010	1	332	0.0030	-42	c.632 others(59): Show c.632+8181_632+8222delAGTATTTATTTATAAATACAGTATTTAT TTATAAATACAGTA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78477401	TTAGCCAG others(35): Show TTAGCCAGTTTGTTTTTCAGAGCCTGTAGTCTTATTGGAAATC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0214 a0001c0001t0037g0214	1	332	0.0030	-42	c.17 others(53): Show c.1736_*1777delGCCAGTTTGTTTTTCAGAGCCTGTAGTCTTATTG GAAATCTA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	9/9	1736	INFO_REALIGN_3_PRIME	chr5	TogoVar
SCARA5_chr8_27864883_27997673	27918619	GGGGGAGC others(35): Show GGGGGAGCAGGAGGAGGAAGATGAGGAGGAGGAAAAGGAAGAT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03834.hp1 HG02622.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0016 a0001c0001t0001 a0001c0009t0016	a0001c0001t0001g0159 a0001c0009t0016g0097 a0001c0001t0001g0159 a0001c0009t0016g0097	2	312	0.0064	-42	c.916 others(59): Show c.916+2910_916+2951delATCTTCCTTTTCCTCCTCCTCATCTTCC TCCTCCTGCTCCCC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARB1_chr12_124771856_124868864	124839832	ATTTCTCC others(35): Show ATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0109 a0001c0001t0022g0109	1	354	0.0028	-42	c.127 others(61): Show c.127-22167_127-22126delATCGGGGCCCATGTGTGCCGTTGGGG TGAGGGTGCGGAGAAA	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCFD1_chr14_30617319_30740850	30703922	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp2 HG02572.hp1 others(8): Show HG02055.hp2 HG02486.hp2 HG02572.hp1 HG02717.hp2 HG03130.hp1 HG03453.hp1 NA19043.hp2 NA19065.hp2 NA19070.hp2 NA19240.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0121 a0001c0001t0001g0122 a0002c0002t0001g0021 others(8): Show a0001c0001t0001g0121 a0001c0001t0001g0122 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205	11	326	0.0337	-42	c.149 others(61): Show c.1490+1551_1490+1592delTATATATATATATATATATATATATA TATATATATATAAATA	SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
SCGB1C2_chr17_132569_144067	141162	TGGGGGGG others(35): Show TGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGAACATGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	400	0.0025	-42	c.22 others(53): Show c.2221_*2262delGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGG AACATGGG	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2096		chr17	TogoVar
SCGB2A2_chr11_62265158_62278160	62277970	TCTCATGC others(35): Show TCTCATGCGGAGCCGAAGCTGGACTGTACTGCTGCCATCTCGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18977.hp1 NA18952.hp2 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	2	388	0.0052	-42	c.49 others(53): Show c.4976_*5017delCTCATGCGGAGCCGAAGCTGGACTGTACTGCTGC CATCTCGG	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4811		chr11	TogoVar
SCHIP1_chr3_159268244_159902359	159626214	CTAGATAT others(35): Show CTAGATATATATATATCTAGATATATCTATCTATCTATATAGA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	97	0.0103	-42	c.64- others(61): Show c.64-138222_64-138181delTATATATATCTAGATATATCTATCTA TCTATATAGATAGATA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCIMP_chr17_5203920_5239860	5222432	ATTGAATT others(35): Show ATTGAATTAAAGCTTTCGTGTTTCTGGAGATGAACAGGAAAGT	A A	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0098 a0001c0001t0004g0098	1	384	0.0026	-42	c.145 others(57): Show c.145+859_145+900delACTTTCCTGTTCATCTCCAGAAACACGAAA GCTTTAATTCAA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	2/4			chr17	TogoVar
SCLY_chr2_238056001_238104413	238098559	GCATAGGA others(35): Show GCATAGGACTGCCCACATGGGACCGCCCACATAGGACCGCCCA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01071.hp1 HG02486.hp2 HG03195.hp2 HG01071.hp1 HG02486.hp2 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0044 a0002c0002t0074 a0001c0001t0044 a0002c0002t0074	a0001c0001t0044g0008 a0002c0002t0074g0199 a0001c0001t0044g0008 a0002c0002t0074g0199	3	360	0.0083	-42	c.21 others(51): Show c.213_*254delTGCCCACATGGGACCGCCCACATAGGACCGCCCACA TAGGAC	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	213	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098591	AGGACCGC others(35): Show AGGACCGCCCACATAGGACCGCCCACATGGGACCGCCCACATG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0037 a0002c0002t0037	a0002c0002t0037g0016 a0002c0002t0037g0016	1	293	0.0034	-42	c.25 others(51): Show c.250_*291delAGGACCGCCCACATGGGACCGCCCACATGGGACCGC CCACAT	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	250	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCML1_chrX_17732493_17759985	17737223	CATCTCCT others(35): Show CATCTCCTCAGCAAATTCCCGCCCTCGGCCCCGCCCCACAGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0061	1	279	0.0036	-42	c.-57 others(51): Show c.-573_-532delATCTCCTCAGCAAATTCCCGCCCTCGGCCCCGCCCC ACAGCT	SCML1	ENSG00000047634.15	transcript	ENST00000380041.8	protein_coding		269		chrX	TogoVar
SCN11A_chr3_38840764_39056944	38938522	ATATATAT others(35): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0047 a0001c0002t0004g0047	1	297	0.0034	-42	c.488 others(59): Show c.488+6847_488+6888delAAAAAAAAAAAAAATATATATATATATA TATATATATATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCNN1B_chr16_23297302_23386294	23305534	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	256	0.0039	-42	c.-9+ others(57): Show c.-9+3099_-9+3140delATATATATATATATATATATATATATATAT ATATATATATAT	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCT_chr11_621309_632181	628913	CTTTCTTT others(35): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	-42	c.-18 others(53): Show c.-1812_-1771delAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAA	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding		1733		chr11	TogoVar
SCT_chr11_621309_632181	628941	CTTTCTTT others(35): Show CTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	393	0.0025	-42	c.-18 others(53): Show c.-1840_-1799delAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAA GAAAGAAA	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding		1761		chr11	TogoVar
SCT_chr11_621309_632181	628955	TTTTCTTT others(35): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTCTTTTTCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG02717.hp1 HG03540.hp2 HG01346.hp2 HG02717.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	3	379	0.0079	-42	c.-18 others(53): Show c.-1854_-1813delGGAAGAAAAAGAAAAAAAGAAAGAAAGAAAGAAA GAAAGAAA	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding		1775		chr11	TogoVar
SCUBE1_chr22_43192280_43348372	43334600	GCACCATC others(35): Show GCACCATCAACATTATCATCACCACCATCAACATTATCATCAC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0059 a0001c0038t0059	a0001c0038t0059g0128 a0001c0038t0059g0128	1	275	0.0036	-42	c.220 others(59): Show c.220+4462_220+4503delGTGATGATAATGTTGATGGTGGTGATGA TAATGTTGATGGTG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	2/21			chr22	TogoVar
SDK2_chr17_73329384_73649445	73388776	TTCCTTCC others(35): Show TTCCTTCCTTCCTTCCCTCCCTCCTTCCTTCCTTCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0004 a0004	a0004c0095 a0004c0095	a0004c0095t0037 a0004c0095t0037	a0004c0095t0037g0062 a0004c0095t0037g0062	1	176	0.0057	-42	c.419 others(59): Show c.4193-781_4193-740delGAGGGAGGGAAGGAAGGAAGGAGGGAGG GAAGGAAGGAAGGA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	29/44			chr17	TogoVar
SEC14L6_chr22_30517799_30551741	30540881	TGGTGGCA others(35): Show TGGTGGCAGGCGCCTGTAATCAAAGCTACTCAGGAGGCTGAGG	T T	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0001 a0002c0020t0001	a0002c0020t0001g0271 a0002c0020t0001g0271	1	394	0.0025	-42	c.55- others(57): Show c.55-2021_55-1980delCCTCAGCCTCCTGAGTAGCTTTGATTACAG GCGCCTGCCACC	SEC14L6	ENSG00000214491.9	transcript	ENST00000402034.7	protein_coding	1/11			chr22	TogoVar
SEL1L2_chr20_13844247_13995614	13983861	ACTCCTTC others(35): Show ACTCCTTCCCTGGTTCTCTATACACCCACAATTAATGAACGAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0002 a0008c0014t0002	a0008c0014t0002g0063 a0008c0014t0002g0063	1	322	0.0031	-42	c.58+ others(57): Show c.58+6574_58+6615delATCGTTCATTAATTGTGGGTGTATAGAGAA CCAGGGAAGGAG	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	1/19			chr20	TogoVar
SEMA3A_chr7_83950777_84199789	84091176	GAAAGAAA others(35): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp2 HG01928.hp2 others(7): Show HG00639.hp1 HG01243.hp2 HG01928.hp2 HG03041.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG06807.hp2 NA18962.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0004c0011	a0001c0001t0004 a0001c0001t0022 a0001c0003t0006 others(4): Show a0001c0001t0004 a0001c0001t0022 a0001c0003t0006 a0001c0003t0008 a0001c0004t0005 a0001c0004t0031 a0004c0011t0002	a0001c0001t0004g0224 a0001c0001t0022g0225 a0001c0003t0006g0155 others(7): Show a0001c0001t0004g0224 a0001c0001t0022g0225 a0001c0003t0006g0155 a0001c0003t0006g0156 a0001c0003t0006g0163 a0001c0003t0006g0219 a0001c0003t0008g0068 a0001c0004t0005g0118 a0001c0004t0031g0126 a0004c0011t0002g0148	10	274	0.0365	-42	c.453 others(61): Show c.453+19252_453+19293delTCTTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA4D_chr9_89372235_89503113	89440113	TGTGAGCC others(35): Show TGTGAGCCTGACCCTCACCCTGGGAGCCACGCAGGCTGTGGCA	T T	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0322 a0001c0003t0002g0322	1	368	0.0027	-42	c.-24 others(63): Show c.-244+15733_-244+15774delTGCCACAGCCTGCGTGGCTCCCAG GGTGAGGGTCAGGCTCAC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	2/15			chr9	TogoVar
SEMA5A_chr5_9030033_9551075	9384591	GATAGATA others(35): Show GATAGATAGATAGATAGATAGATAGATACATAGATAGATAGAT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0034 a0001c0007t0034	a0001c0007t0034g0033 a0001c0007t0034g0033	1	125	0.0080	-42	c.-77 others(59): Show c.-77-4610_-77-4569delATCTATCTATCTATGTATCTATCTATCT ATCTATCTATCTAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SEMG1_chr20_45202033_45214768	45212035	AAGAAAGA others(35): Show AAGAAAGAAAGAAAGAGAGAGAGAGAAAAAGGAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02723.hp2 HG02523.hp1 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	2	406	0.0049	-42	c.24 others(53): Show c.2480_*2521delAGAAAGAAAGAAAGAGAGAGAGAGAAAAAGGAAG AAAGAAAG	SEMG1	ENSG00000124233.12	transcript	ENST00000372781.4	protein_coding		2268		chr20	TogoVar
SENP3_chr17_7556919_7576969	7571868	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATATAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp1 HG02080.hp2 HG02135.hp1 others(3): Show HG00597.hp1 HG02080.hp2 HG02135.hp1 NA18612.hp2 NA18951.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0079 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0079 a0001c0001t0001g0080	6	443	0.0135	-42	c.38 others(51): Show c.387_*428delTATATATATATATATATATATATATATATATATATA TATAAA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	387	INFO_REALIGN_3_PRIME	chr17	TogoVar
SENP3_chr17_7556919_7576969	7571870	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp2 HG00673.hp2 HG01934.hp2 others(5): Show HG00438.hp2 HG00673.hp2 HG01934.hp2 HG01993.hp1 HG02132.hp2 NA18994.hp1 NA18995.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0054 a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0054	8	430	0.0186	-42	c.39 others(51): Show c.395_*436delTATATATATATATATATATATATATATATATAAAAA TATATA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	395	INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPHS1_chr10_13312428_13353293	13350966	TATGGCTC others(35): Show TATGGCTCATATTCTTAGAAAAAAAGGAATATTTGGGCTGGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	376	0.0027	-42	c.-30 others(53): Show c.-3087_-3046delGCCCAGCCCAAATATTCCTTTTTTTCTAAGAATA TGAGCCAT	SEPHS1	ENSG00000086475.15	transcript	ENST00000327347.10	protein_coding		2674		chr10	TogoVar
SERPINA11_chr14_94437464_94457800	94449469	CTTTCTTT others(35): Show CTTTCTTTCTTTCTGTCTGTCTGTCTTTCTTTCTCTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0086 a0002c0002t0001g0086	1	449	0.0022	-42	c.-3- others(55): Show c.-3-734_-3-693delAAAAGAAAGAGAAAGAAAGACAGACAGACAGA AAGAAAGAAA	SERPINA11	ENSG00000186910.4	transcript	ENST00000334708.4	protein_coding	1/4			chr14	TogoVar
SERPINB5_chr18_63471958_63510085	63497056	GGCCTGTG others(35): Show GGCCTGTGTCTGCCTCCTTCTTGAATAGCCCAGAGCATTCATC	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0020 a0003c0009t0020	a0003c0009t0020g0226 a0003c0009t0020g0226	1	408	0.0025	-42	c.568 others(59): Show c.568-2063_568-2022delGCCTGTGTCTGCCTCCTTCTTGAATAGC CCAGAGCATTCATC	SERPINB5	ENSG00000206075.14	transcript	ENST00000382771.9	protein_coding	5/6			chr18	TogoVar
SERPINE1_chr7_101122104_101144247	101140240	GAAAGAAA others(35): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 NA18993.hp2 HG03579.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0097 a0001c0001t0015g0049 a0001c0001t0001g0097 a0001c0001t0015g0049	2	431	0.0046	-42	c.27 others(53): Show c.2799_*2840delAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAA	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding		994		chr7	TogoVar
SETBP1_chr18_44675888_45073510	44806810	TACAGGCA others(35): Show TACAGGCATGTGCCATTGCATCTGGCTTGGTAATGGTGCTTTA	T T	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0023 a0006c0007t0023	a0006c0007t0023g0062 a0006c0007t0023g0062	1	138	0.0072	-42	c.487 others(61): Show c.487-62416_487-62375delGGCATGTGCCATTGCATCTGGCTTGG TAATGGTGCTTTAACA	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEZ6L_chr22_26164462_26388596	26274316	ATAGGACC others(35): Show ATAGGACCTTGCATATAGAACCTTGGATATAGGACCTTGAATG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00639.hp2 others(37): Show HG00140.hp1 HG00140.hp2 HG00639.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01074.hp2 HG01109.hp2 HG01243.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG01981.hp1 HG02055.hp1 HG02258.hp1 HG02300.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp1 HG02818.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp1 NA18906.hp1 NA18906.hp2 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0007 others(8): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0025 a0002c0002 a0002c0012 a0002c0033 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0001c0003t0022 a0001c0007t0003 a0001c0007t0006 a0001c0008t0001 a0001c0008t0004 a0001c0009t0001 a0001c0009t0002 a0001c0009t0003 a0001c0009t0006 a0001c0010t0001 a0001c0010t0002 a0001c0025t0006 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0009 a0002c0002t0020 a0002c0012t0001 a0002c0012t0004 a0002c0033t0003 a0003c0004t0004 a0003c0004t0029	a0001c0001t0001g0014 a0001c0001t0002g0013 a0001c0001t0006g0040 others(37): Show a0001c0001t0001g0014 a0001c0001t0002g0013 a0001c0001t0006g0040 a0001c0001t0006g0232 a0001c0003t0001g0102 a0001c0003t0001g0179 a0001c0003t0001g0182 a0001c0003t0001g0233 a0001c0003t0004g0181 a0001c0003t0005g0184 a0001c0003t0022g0208 a0001c0007t0003g0231 a0001c0007t0006g0161 a0001c0008t0001g0160 a0001c0008t0004g0003 a0001c0009t0001g0015 a0001c0009t0002g0170 a0001c0009t0003g0112 a0001c0009t0006g0113 a0001c0010t0001g0046 a0001c0010t0002g0238 a0001c0010t0002g0239 a0001c0025t0006g0118 a0002c0002t0002g0072 a0002c0002t0002g0188 a0002c0002t0003g0042 a0002c0002t0004g0086 a0002c0002t0004g0157 a0002c0002t0004g0229 a0002c0002t0006g0034 a0002c0002t0006g0061 a0002c0002t0006g0173 a0002c0002t0009g0098 a0002c0002t0020g0122 a0002c0012t0001g0149 a0002c0012t0001g0150 a0002c0012t0004g0148 a0002c0033t0003g0116 a0003c0004t0004g0110 a0003c0004t0029g0097	40	238	0.1681	-42	c.95- others(59): Show c.95-18079_95-18038delCATATAGAACCTTGGATATAGGACCTTG AATGTAGGACCTTG	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26294891	TGCTTGCT others(35): Show TGCTTGCTTGCTTGCTTCCTGCTTTCTTGCTTCTTTCTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02886.hp1 HG02647.hp1 HG02886.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0014 a0002c0018t0014	a0002c0018t0014g0104 a0002c0018t0014g0124 a0002c0018t0014g0104 a0002c0018t0014g0124	2	238	0.0084	-42	c.969 others(57): Show c.969+467_969+508delGCTTGCTTGCTTGCTTCCTGCTTTCTTGCT TCTTTCTCTTTC	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	3/16			chr22	TogoVar

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