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
SRBD1_chr2_45383680_45616267	45509598	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0009 a0009	a0009c0021 a0009c0021	a0009c0021t0001 a0009c0021t0001	a0009c0021t0001g0094 a0009c0021t0001g0094	1	39	0.0256	-20	c.187 others(41): Show c.1875-21287_1875-21268delGTGTGTGTGTGTGTGTGTGT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	14/20			chr2	TogoVar
SRC_chr20_37341140_37411050	37405353	GGGGTATC others(13): Show GGGGTATCCAGAATTGGTTGT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0236 a0001c0001t0033g0236	1	280	0.0036	-20	c.19 others(31): Show c.1975_*1994delGGGTATCCAGAATTGGTTGT	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	14/14	1975		chr20	TogoVar
SRC_chr20_37341140_37411050	37405738	GCCTGCCT others(13): Show GCCTGCCTAGAGGAGATCACA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0093 a0001c0001t0034g0093	1	280	0.0036	-20	c.23 others(31): Show c.2360_*2379delCCTGCCTAGAGGAGATCACA	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	14/14	2360		chr20	TogoVar
SRD5A3_chr4_55341242_55378100	55370431	TCACACAC others(13): Show TCACACACACACACACACACA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02258.hp2 HG02970.hp2 others(5): Show HG02145.hp2 HG02258.hp2 HG02970.hp2 HG02976.hp1 HG03225.hp1 HG03486.hp1 HG03540.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0038 a0001c0001t0012 a0001c0001t0038	a0001c0001t0012g0022 a0001c0001t0012g0068 a0001c0001t0012g0087 others(4): Show a0001c0001t0012g0022 a0001c0001t0012g0068 a0001c0001t0012g0087 a0001c0001t0012g0088 a0001c0001t0012g0089 a0001c0001t0012g0174 a0001c0001t0038g0086	8	60	0.1333	-20	c.36 others(29): Show c.363_*382delCACACACACACACACACACA	SRD5A3	ENSG00000128039.13	transcript	ENST00000264228.9	protein_coding	5/5	363	INFO_REALIGN_3_PRIME	chr4	TogoVar
SREBF1_chr17_17806334_17841986	17808414	ATTATTTT others(13): Show ATTATTTTATTTTATTTTATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	254	0.0039	-20	c.41 others(31): Show c.4188_*4207delAATAAAATAAAATAAAATAA	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding		2919		chr17	TogoVar
SREK1_chr5_66139300_66188615	66184223	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG02055.hp2 HG02258.hp1 others(15): Show HG00673.hp2 HG02055.hp2 HG02258.hp1 HG02451.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 others(1): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0005t0035	a0001c0001t0003g0027 a0001c0001t0007g0009 a0001c0001t0007g0017 others(8): Show a0001c0001t0003g0027 a0001c0001t0007g0009 a0001c0001t0007g0017 a0001c0001t0007g0028 a0001c0001t0007g0030 a0001c0001t0007g0061 a0001c0001t0008g0017 a0001c0001t0008g0029 a0001c0001t0008g0059 a0001c0001t0008g0060 a0001c0005t0035g0062	18	26	0.6923	-20	c.53 others(31): Show c.5356_*5375delTTTTTTTTTTTTTTTTTTTT	SREK1	ENSG00000153914.16	transcript	ENST00000334121.11	protein_coding		609		chr5	TogoVar
SRGAP1_chr12_63839700_64167217	63856252	CTAAATAA others(13): Show CTAAATAAATAAATAAATAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG02257.hp1 others(3): Show HG01243.hp1 HG01243.hp2 HG02257.hp1 HG02647.hp1 HG02809.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0068 a0001c0001t0102 a0001c0003t0002 others(2): Show a0001c0001t0068 a0001c0001t0102 a0001c0003t0002 a0001c0003t0087 a0001c0003t0088	a0001c0001t0068g0163 a0001c0001t0102g0159 a0001c0003t0002g0065 others(3): Show a0001c0001t0068g0163 a0001c0001t0102g0159 a0001c0003t0002g0065 a0001c0003t0002g0079 a0001c0003t0087g0066 a0001c0003t0088g0160	6	58	0.1034	-20	c.67+ others(37): Show c.67+11394_67+11413delTAAATAAATAAATAAATAAA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63983797	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02647.hp2 HG02895.hp2 others(3): Show HG01261.hp2 HG02647.hp2 HG02895.hp2 HG03831.hp2 NA18522.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0011 a0001c0001t0141 a0001c0001t0142 others(3): Show a0001c0001t0011 a0001c0001t0141 a0001c0001t0142 a0001c0002t0022 a0001c0002t0050 a0002c0004t0153	a0001c0001t0011g0149 a0001c0001t0141g0002 a0001c0001t0142g0007 others(3): Show a0001c0001t0011g0149 a0001c0001t0141g0002 a0001c0001t0142g0007 a0001c0002t0022g0170 a0001c0002t0050g0101 a0002c0004t0153g0076	6	26	0.2308	-20	c.68- others(32): Show c.68-111_68-92delATATATATATATATATATAT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63992660	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA20129.hp1 HG02451.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0038 a0001c0006t0083 a0001c0002t0038 a0001c0006t0083	a0001c0002t0038g0029 a0001c0006t0083g0018 a0001c0002t0038g0029 a0001c0006t0083g0018	2	13	0.1538	-20	c.426 others(37): Show c.426+2625_426+2644delACACACACACACACACACAC	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64092455	GACATACA others(13): Show GACATACATACATATATACAT	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0145 a0001c0001t0145	a0001c0001t0145g0016 a0001c0001t0145g0016	1	163	0.0061	-20	c.153 others(39): Show c.1539+1091_1539+1110delTATACATACATACATACATA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2B_chr1_144882288_145100328	144884067	GCGGCGGG others(13): Show GCGGCGGGGGGCGAAAAGCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 NA18941.hp1 HG01258.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0026 a0001c0001t0002g0004 a0001c0001t0001g0026 a0001c0001t0002g0004	2	54	0.0370	-20	c.80 others(31): Show c.8073_*8092delTGGCTTTTCGCCCCCCGCCG	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		3220		chr1	TogoVar
SRGAP2B_chr1_144882288_145100328	145044650	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	6	0.1667	-20	c.67+ others(37): Show c.67+48165_67+48184delTTTTTTTTTTTTTTTTTTTT	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding	2/9			chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121223351	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	15	0.0667	-20	c.67+ others(37): Show c.67+35864_67+35883delGTGTGTGTGTGTGTGTGTGT	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121249562	ATATATAT others(13): Show ATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0254 a0001c0003t0004g0254	1	271	0.0037	-20	c.68- others(37): Show c.68-35239_68-35220delATATATATATATATATATTT	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121249564	ATATATAT others(13): Show ATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp2 HG02572.hp2 others(8): Show HG02109.hp2 HG02280.hp2 HG02572.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02976.hp2 HG03209.hp2 HG03225.hp2 HG03540.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0019 a0001c0003t0055 a0001c0003t0004 a0001c0003t0019 a0001c0003t0055	a0001c0003t0004g0258 a0001c0003t0004g0259 a0001c0003t0004g0260 others(8): Show a0001c0003t0004g0258 a0001c0003t0004g0259 a0001c0003t0004g0260 a0001c0003t0004g0263 a0001c0003t0004g0264 a0001c0003t0004g0265 a0001c0003t0004g0266 a0001c0003t0004g0267 a0001c0003t0019g0255 a0001c0003t0019g0268 a0001c0003t0055g0262	11	263	0.0418	-20	c.68- others(37): Show c.68-35237_68-35218delATATATATATATATATTTTT	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP3_chr3_8975591_9254646	9096962	TATATATA others(13): Show TATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01515.hp1 HG01496.hp2 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0161 a0001c0001t0001g0046 a0001c0001t0001g0161	2	226	0.0088	-20	c.423 others(37): Show c.423+7698_423+7717delGTATATATATATATATATAT	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	3/21			chr3	TogoVar
SRGN_chr10_69083103_69109805	69091895	AAAAAAAA others(13): Show AAAAAAAAAAAAAAGAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	406	0.0025	-20	c.79+ others(35): Show c.79+3664_79+3683delAAAAAAAAAGAAAAAGAAAA	SRGN	ENSG00000122862.5	transcript	ENST00000242465.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
SRM_chr1_11049589_11065018	11062442	CACAGAAG others(13): Show CACAGAAGTCTACAGAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	344	0.0029	-20	c.-25 others(31): Show c.-2519_-2500delTTTTTTCTGTAGACTTCTGT	SRM	ENSG00000116649.10	transcript	ENST00000376957.7	protein_coding		2425		chr1	TogoVar
SRP54_chr14_34977992_35034567	34981184	TACACACA others(13): Show TACACACACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00423.hp1 others(110): Show HG00099.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00741.hp1 HG01074.hp1 HG01099.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01256.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp2 HG02056.hp1 HG02074.hp2 HG02129.hp2 HG02135.hp2 HG02148.hp2 HG02273.hp2 HG02486.hp1 HG02486.hp2 HG02809.hp1 HG02818.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03490.hp1 HG03669.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18985.hp2 NA18986.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp1 NA19058.hp2 NA19062.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp2 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA19089.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 others(105): Show a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0364 a0001c0001t0002g0365 a0001c0001t0002g0366 a0001c0001t0002g0367 a0001c0001t0002g0368 a0001c0001t0002g0369 a0001c0001t0002g0370 a0001c0001t0002g0371 a0001c0001t0002g0372 a0001c0001t0002g0373 a0001c0001t0002g0374 a0001c0001t0002g0375 a0001c0001t0002g0376 a0001c0001t0002g0377 a0001c0001t0002g0378 a0001c0001t0002g0379	113	122	0.9262	-20	c.-20 others(31): Show c.-2064_-2045delACACACACACACACACACAC	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding		1807		chr14	TogoVar
SRP54_chr14_34977992_35034567	34995134	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0188 a0001c0001t0003g0188	1	145	0.0069	-20	c.-33 others(37): Show c.-33-1508_-33-1489delGTGTGTGTGTGTGTGTGTGT	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP68_chr17_76033785_76077517	76038345	ATGACTTC others(13): Show ATGACTTCATCTCCAACTCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG02055.hp1 HG02572.hp2 others(2): Show HG00639.hp2 HG02055.hp1 HG02572.hp2 HG02647.hp1 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0009 a0001c0004t0003 a0001c0004t0007 a0001c0003t0009 a0001c0004t0003 a0001c0004t0007	a0001c0003t0009g0309 a0001c0004t0003g0314 a0001c0004t0003g0315 others(2): Show a0001c0003t0009g0309 a0001c0004t0003g0314 a0001c0004t0003g0315 a0001c0004t0007g0316 a0001c0004t0007g0317	5	364	0.0137	-20	c.13 others(31): Show c.1341_*1360delGGGAGTTGGAGATGAAGTCA	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding		439		chr17	TogoVar
SRPK2_chr7_105111374_105393921	105170836	GAAGAAAG others(13): Show GAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00642.hp1 others(16): Show HG00621.hp1 HG00621.hp2 HG00642.hp1 HG01358.hp1 HG01361.hp2 HG02015.hp1 HG02056.hp2 HG02165.hp1 HG02280.hp1 HG02293.hp1 HG02486.hp2 HG02572.hp2 HG03492.hp1 HG04184.hp2 NA18906.hp2 NA18969.hp2 NA18970.hp1 NA19240.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0005 a0001c0001t0001g0045 a0001c0001t0001g0061 others(16): Show a0001c0001t0001g0005 a0001c0001t0001g0045 a0001c0001t0001g0061 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0102 a0001c0001t0001g0111 a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0004g0062	19	148	0.1284	-20	c.230 others(37): Show c.230-1591_230-1572delTCTTTCTTTCTTTCTTTCTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	3/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105170896	AAAGAAAG others(13): Show AAAGAAAGAAAGAAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02622.hp1 HG01884.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0007 a0001c0001t0007g0010 a0001c0001t0001g0007 a0001c0001t0007g0010	2	280	0.0071	-20	c.230 others(37): Show c.230-1651_230-1632delCCTTTCTTTCTTTCTTTCTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	3/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105170914	AGGAGAAA others(13): Show AGGAGAAAGAAAAAGAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG03491.hp1 HG03492.hp2 others(3): Show HG01978.hp1 HG03491.hp1 HG03492.hp2 NA18985.hp1 NA18989.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0080 a0001c0001t0001g0132 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0080 a0001c0001t0001g0132 a0001c0001t0001g0146 a0001c0001t0001g0163 a0001c0001t0001g0197	6	278	0.0216	-20	c.230 others(37): Show c.230-1669_230-1650delCTTTTTCTTTTTCTTTCTCC	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	3/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105233091	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00558.hp2 others(10): Show HG00423.hp2 HG00438.hp2 HG00558.hp2 HG02083.hp2 HG02132.hp1 HG02165.hp2 NA18747.hp1 NA18941.hp2 NA18960.hp2 NA18969.hp1 NA18971.hp1 NA18979.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0147 others(10): Show a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0173 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0192	13	61	0.2131	-20	c.72- others(37): Show c.72-29326_72-29307delCTTCCTTCCTTCCTTCCTTC	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRRM3_chr7_76196896_76292287	76223820	GCCTTCCC others(13): Show GCCTTCCCTTCCCTTCCCTTC	G G	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	69	0.0145	-20	c.-39 others(39): Show c.-39-11154_-39-11135delTCCCTTCCCTTCCCTTCCCT	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
SRRM4_chr12_118976541_119168051	119122272	AAGGCAGG others(13): Show AAGGCAGGAAGGCAGGAAGGC	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0301 a0002c0002t0002g0301	1	325	0.0031	-20	c.515 others(35): Show c.515+156_515+175delCAGGAAGGCAGGAAGGCAGG	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRRM4_chr12_118976541_119168051	119122284	CAGGAAGG others(13): Show CAGGAAGGCAGGAAGGAAGGA	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0012 a0001c0001t0014g0012	1	310	0.0032	-20	c.515 others(35): Show c.515+172_515+191delCAGGAAGGAAGGAAGGAAGG	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRRT_chr7_100870103_100893664	100889741	GCCCCTCC others(13): Show GCCCCTCCCCTCCCCTCCCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(146): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02738.hp1 HG02738.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18969.hp1 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18995.hp1 NA18997.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19011.hp1 NA19012.hp1 NA19055.hp1 NA19057.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19072.hp1 NA19074.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0009 others(1): Show a0001c0001 a0001c0005 a0001c0009 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0005t0002 a0001c0009t0001 a0001c0011t0002	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0020 others(61): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0098 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0154 a0001c0001t0002g0157 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0006g0003 a0001c0005t0002g0169 a0001c0009t0001g0053 a0001c0011t0002g0012	149	384	0.3880	-20	c.11 others(31): Show c.1193_*1212delCCCCTCCCCTCCCCTCCCCT	SRRT	ENSG00000087087.20	transcript	ENST00000611405.5	protein_coding		1078		chr7	TogoVar
SRR_chr17_2298950_2330260	2327563	AAGTTTTA others(13): Show AAGTTTTATGCATACAGATCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	368	0.0027	-20	c.36 others(31): Show c.3691_*3710delAGTTTTATGCATACAGATCT	SRR	ENSG00000167720.13	transcript	ENST00000344595.10	protein_coding		2304		chr17	TogoVar
SRSF4_chr1_29142743_29186900	29159108	ACAAACCA others(13): Show ACAAACCAAACCAAACCAAAC	A A	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0283 a0003c0003t0001g0283	1	152	0.0066	-20	c.363 others(35): Show c.363+246_363+265delGTTTGGTTTGGTTTGGTTTG	SRSF4	ENSG00000116350.18	transcript	ENST00000373795.7	protein_coding	3/5			chr1	TogoVar
SRSF6_chr20_43452896_43469243	43454993	ACCCCCTG others(13): Show ACCCCCTGTTGAGAACCACTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01069.hp2 HG01074.hp1 others(9): Show HG00323.hp2 HG01069.hp2 HG01074.hp1 HG01099.hp1 HG01123.hp2 HG01256.hp1 HG01516.hp2 HG01517.hp1 HG02257.hp2 HG03654.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009	a0001c0001t0002g0001 a0001c0001t0002g0039 a0001c0001t0003g0002 others(1): Show a0001c0001t0002g0001 a0001c0001t0002g0039 a0001c0001t0003g0002 a0001c0001t0009g0002	12	461	0.0260	-20	c.-30 others(31): Show c.-3040_-3021delCCCCCTGTTGAGAACCACTG	SRSF6	ENSG00000124193.16	transcript	ENST00000244020.5	protein_coding		2902		chr20	TogoVar
SS18L1_chr20_62138769_62187514	62150633	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA21309.hp1 HG02970.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0280 a0001c0001t0015g0279 a0001c0001t0002g0280 a0001c0001t0015g0279	2	9	0.2222	-20	c.69+ others(35): Show c.69+6762_69+6781delTTTTTTTTTTTTTTTTTTTT	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
SS18L1_chr20_62138769_62187514	62160284	AGGTGGGG others(13): Show AGGTGGGGTGGGGAGAGGTGG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01106.hp1 HG02071.hp2 others(9): Show HG00597.hp2 HG01106.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG03654.hp2 HG03688.hp2 NA18971.hp1 NA18982.hp1 NA18999.hp1 NA19000.hp1 NA19087.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0003c0008t0001 a0003c0008t0002	a0001c0001t0001g0215 a0001c0001t0002g0123 a0001c0001t0002g0142 others(9): Show a0001c0001t0001g0215 a0001c0001t0002g0123 a0001c0001t0002g0142 a0001c0001t0002g0214 a0001c0001t0002g0217 a0001c0001t0002g0239 a0001c0001t0002g0242 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0019g0230 a0003c0008t0001g0219 a0003c0008t0002g0220	12	313	0.0383	-20	c.231 others(35): Show c.231+344_231+363delGGTGGGGTGGGGAGAGGTGG	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
SSBP2_chr5_81407804_81756097	81445136	TTTTATAT others(13): Show TTTTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0012 a0001c0001t0054g0012	1	96	0.0104	-20	c.802 others(37): Show c.802+1712_802+1731delTATATATATATATATATAAA	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	12/16			chr5	TogoVar
SSBP2_chr5_81407804_81756097	81501212	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG03098.hp1 HG00323.hp1 HG00323.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0002t0001 a0001c0002t0050 a0001c0001t0016 a0001c0002t0001 a0001c0002t0050	a0001c0001t0016g0169 a0001c0002t0001g0088 a0001c0002t0050g0046 a0001c0001t0016g0169 a0001c0002t0001g0088 a0001c0002t0050g0046	3	113	0.0265	-20	c.373 others(39): Show c.373-11923_373-11904delATATATATATATATATATAT	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	5/16			chr5	TogoVar
SSBP2_chr5_81407804_81756097	81501252	TATATATA others(13): Show TATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03453.hp1 HG02895.hp2 HG02897.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0195 a0001c0001t0014g0196 a0001c0001t0014g0197 a0001c0001t0014g0195 a0001c0001t0014g0196 a0001c0001t0014g0197	3	204	0.0147	-20	c.373 others(39): Show c.373-11963_373-11944delGTGTATATATATATATATAT	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	5/16			chr5	TogoVar
SSBP2_chr5_81407804_81756097	81667286	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03453.hp2 HG02055.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0018 a0001c0003t0033 a0001c0001t0018 a0001c0003t0033	a0001c0001t0018g0192 a0001c0003t0033g0193 a0001c0001t0018g0192 a0001c0003t0033g0193	2	25	0.0800	-20	c.63- others(37): Show c.63-16967_63-16948delGTGTGTGTGTGTGTGTGTGT	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	1/16			chr5	TogoVar
SSBP3_chr1_54220432_54411394	54221644	ATCACACT others(13): Show ATCACACTCCCACACATGCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0118 a0001c0001t0005g0118	1	278	0.0036	-20	c.54 others(31): Show c.5467_*5486delCTGCATGTGTGGGAGTGTGA	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding		3787		chr1	TogoVar
SSBP3_chr1_54220432_54411394	54240071	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGCGC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0118 a0001c0001t0005g0118	1	275	0.0036	-20	c.856 others(35): Show c.856+814_856+833delGCGCACACACACACACACAC	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	13/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54289025	AAAAAAAA others(13): Show AAAAAAAAAAAACAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG01106.hp1 others(19): Show HG00323.hp2 HG00642.hp1 HG01106.hp1 HG01192.hp1 HG01515.hp2 HG01884.hp2 HG02109.hp2 HG02257.hp1 HG02559.hp1 HG02572.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp2 HG04115.hp1 NA18522.hp1 NA19010.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0016 a0001c0001t0037 a0001c0002t0013 a0001c0002t0028 a0001c0005t0025	a0001c0001t0001g0025 a0001c0001t0001g0106 a0001c0001t0002g0043 others(19): Show a0001c0001t0001g0025 a0001c0001t0001g0106 a0001c0001t0002g0043 a0001c0001t0002g0060 a0001c0001t0002g0116 a0001c0001t0003g0171 a0001c0001t0004g0026 a0001c0001t0004g0139 a0001c0001t0005g0034 a0001c0001t0005g0040 a0001c0001t0005g0077 a0001c0001t0005g0093 a0001c0001t0006g0166 a0001c0001t0006g0219 a0001c0001t0006g0236 a0001c0001t0009g0167 a0001c0001t0016g0063 a0001c0001t0016g0109 a0001c0001t0037g0231 a0001c0002t0013g0037 a0001c0002t0028g0278 a0001c0005t0025g0129	22	278	0.0791	-20	c.277 others(37): Show c.277-7518_277-7499delGTTTTTTTGTTTTTTTTTTT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54294159	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0237 a0001c0002t0003g0237	1	238	0.0042	-20	c.277 others(39): Show c.277-12652_277-12633delCTTTCTTTCTTTCTTTCTTT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54316657	AAATAAAA others(13): Show AAATAAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0278 a0001c0002t0028g0278	1	250	0.0040	-20	c.277 others(39): Show c.277-35150_277-35131delATTTATTTATTTATTTTATT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54327010	CAAGGACA others(13): Show CAAGGACAGGCAACGCCAGGG	C C	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	278	0.0036	-20	c.277 others(39): Show c.277-45503_277-45484delCCCTGGCGTTGCCTGTCCTT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54327217	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG01884.hp1 others(22): Show HG00323.hp2 HG00438.hp1 HG01884.hp1 HG02132.hp1 HG02148.hp1 HG02300.hp1 HG02523.hp2 NA18942.hp2 NA18957.hp2 NA18959.hp1 NA18967.hp1 NA18971.hp2 NA18979.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18990.hp1 NA18998.hp1 NA19010.hp1 NA19064.hp1 NA19066.hp2 NA19070.hp2 NA19080.hp2 NA19081.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0019 a0001c0001t0023 a0001c0001t0027 a0001c0001t0038 a0001c0001t0040 a0001c0001t0044	a0001c0001t0001g0049 a0001c0001t0002g0043 a0001c0001t0003g0176 others(22): Show a0001c0001t0001g0049 a0001c0001t0002g0043 a0001c0001t0003g0176 a0001c0001t0003g0178 a0001c0001t0003g0180 a0001c0001t0003g0191 a0001c0001t0003g0195 a0001c0001t0003g0211 a0001c0001t0003g0214 a0001c0001t0003g0216 a0001c0001t0005g0048 a0001c0001t0006g0160 a0001c0001t0008g0254 a0001c0001t0008g0258 a0001c0001t0011g0005 a0001c0001t0011g0006 a0001c0001t0012g0007 a0001c0001t0017g0212 a0001c0001t0019g0242 a0001c0001t0019g0257 a0001c0001t0023g0008 a0001c0001t0027g0247 a0001c0001t0038g0197 a0001c0001t0040g0182 a0001c0001t0044g0263	25	71	0.3521	-20	c.277 others(39): Show c.277-45710_277-45691delCCTTCCTTCCTTCCTTCCTT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54363391	CTTAGCAC others(13): Show CTTAGCACAATTCAAAAGTAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp2 HG02145.hp1 others(33): Show HG01243.hp2 HG02109.hp2 HG02145.hp1 HG02451.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03704.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0015 a0001c0001t0024 a0001c0001t0035 a0001c0002t0003 a0001c0002t0013 a0001c0002t0031 a0001c0005t0025	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0122 others(33): Show a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0122 a0001c0001t0001g0138 a0001c0001t0002g0021 a0001c0001t0002g0075 a0001c0001t0002g0094 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0155 a0001c0001t0004g0026 a0001c0001t0004g0045 a0001c0001t0004g0079 a0001c0001t0004g0131 a0001c0001t0004g0139 a0001c0001t0004g0145 a0001c0001t0005g0074 a0001c0001t0005g0076 a0001c0001t0005g0077 a0001c0001t0005g0118 a0001c0001t0006g0218 a0001c0001t0006g0219 a0001c0001t0006g0220 a0001c0001t0006g0221 a0001c0001t0008g0262 a0001c0001t0015g0018 a0001c0001t0024g0140 a0001c0001t0035g0158 a0001c0002t0003g0237 a0001c0002t0013g0044 a0001c0002t0013g0095 a0001c0002t0031g0117 a0001c0005t0025g0129 a0001c0005t0025g0141	36	278	0.1295	-20	c.276 others(39): Show c.276+38450_276+38469delATACTTTTGAATTGTGCTAA	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP4_chr19_18414398_18439562	18422150	GACTCCAT others(13): Show GACTCCATCTCAAAAAGAACA	G G	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	300	0.0033	-20	c.59+ others(35): Show c.59+2445_59+2464delCTCCATCTCAAAAAGAACAA	SSBP4	ENSG00000130511.16	transcript	ENST00000270061.12	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC4D_chr7_76384337_76414697	76405271	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0004 a0001c0016t0004	a0001c0016t0004g0053 a0001c0016t0004g0053	1	117	0.0085	-20	c.-66 others(35): Show c.-66-786_-66-767delTATATATATATATATATATA	SSC4D	ENSG00000146700.9	transcript	ENST00000275560.4	protein_coding	1/10			chr7	TogoVar
SSC5D_chr19_55483436_55524099	55487090	CTGCCGAG others(13): Show CTGCCGAGGGGAGGAGCCTGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0002 a0007c0009t0002	a0007c0009t0002g0230 a0007c0009t0002g0230	1	410	0.0024	-20	c.-14 others(31): Show c.-1499_-1480delTGCCGAGGGGAGGAGCCTGG	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding		1345		chr19	TogoVar
SSC5D_chr19_55483436_55524099	55506373	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0015 a0015	a0015c0027 a0015c0027	a0015c0027t0001 a0015c0027t0001	a0015c0027t0001g0392 a0015c0027t0001g0392	1	10	0.1000	-20	c.278 others(39): Show c.2785+5192_2785+5211delTTTTTTTTTTTTTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr19	TogoVar

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