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
SRPK2_chr7_105111374_105393921	105364405	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01952.hp2 HG02015.hp1 others(26): Show HG01361.hp1 HG01952.hp2 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02145.hp2 HG02155.hp2 HG03492.hp2 HG04204.hp2 NA18612.hp2 NA18941.hp1 NA18942.hp1 NA18945.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18969.hp2 NA18970.hp1 NA18979.hp2 NA18984.hp2 NA18985.hp2 NA18991.hp2 NA19002.hp1 NA19003.hp2 NA19010.hp2 NA19011.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0032 a0001c0001t0001g0048 a0001c0001t0001g0050 others(26): Show a0001c0001t0001g0032 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0004t0001g0217	29	204	0.1422	11	c.71+ others(28): Show c.71+24232_71+24242dupAAAAAAAAAAA	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105388978	G G	GGCCCCGC others(4): Show GGCCCCGCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0086 a0001c0001t0010g0086	1	280	0.0036	11	c.-18 others(20): Show c.-183_-173dupGGGGGCGGGGC	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding		58		chr7	TogoVar
SRPK3_chrX_153776041_153790730	153776484	A A	AGGGCGGG others(4): Show AGGGCGGGGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	304	0.0033	11	c.-46 others(22): Show c.-4603_-4602insGGGCGGGGCTG	SRPK3	ENSG00000184343.11	transcript	ENST00000370101.8	protein_coding		4556		chrX	TogoVar
SRPX2_chrX_100639199_100680788	100657349	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA18972.hp2 NA21309.hp2 HG01243.hp1 NA18972.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013	a0001c0001t0002g0031 a0001c0001t0003g0032 a0001c0001t0013g0050 a0001c0001t0002g0031 a0001c0001t0003g0032 a0001c0001t0013g0050	3	17	0.1765	11	c.164 others(28): Show c.164-4818_164-4808dupTTTTTTTTTTT	SRPX2	ENSG00000102359.9	transcript	ENST00000373004.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SRRD_chr22_26478877_26499658	26490559	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18988.hp2 HG03669.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0075 a0001c0001t0002g0100 a0001c0001t0001g0075 a0001c0001t0002g0100	2	59	0.0339	11	c.764 others(26): Show c.764+373_764+383dupTTTTTTTTTTT	SRRD	ENSG00000100104.13	transcript	ENST00000215917.11	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
SRRM1_chr1_24638302_24678281	24640519	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG02280.hp2 HG02451.hp1 others(4): Show HG01074.hp2 HG02280.hp2 HG02451.hp1 HG02717.hp1 HG02723.hp1 HG02922.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0044 others(4): Show a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0129 a0001c0001t0003g0153 a0001c0001t0003g0250 a0001c0001t0005g0240	7	121	0.0579	11	c.-28 others(22): Show c.-2808_-2807insAAAAAAAAAAA	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding		2782		chr1	TogoVar
SRRM1_chr1_24638302_24678281	24667965	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0268 a0001c0002t0001g0268	1	142	0.0070	11	c.173 others(30): Show c.1739+1057_1739+1067dupTTTTTTTTTTT	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRRM1_chr1_24638302_24678281	24676051	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	127	0.0079	11	c.37 others(22): Show c.3765_*3766insTTTTTTTTTTT	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding		2771		chr1	TogoVar
SRRM3_chr7_76196896_76292287	76221359	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01884.hp2 HG01952.hp1 others(11): Show HG00639.hp2 HG01884.hp2 HG01952.hp1 HG02027.hp1 HG02257.hp2 HG02280.hp1 HG02300.hp2 HG02572.hp1 HG04184.hp1 NA18952.hp2 NA18998.hp2 NA19005.hp2 NA19009.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0016 a0001c0001 a0002c0002 a0002c0016	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0016t0001	a0001c0001t0001g0320 a0001c0001t0002g0226 a0001c0001t0002g0245 others(11): Show a0001c0001t0001g0320 a0001c0001t0002g0226 a0001c0001t0002g0245 a0002c0002t0001g0317 a0002c0002t0002g0233 a0002c0002t0002g0236 a0002c0002t0003g0288 a0002c0002t0003g0295 a0002c0002t0003g0297 a0002c0002t0003g0301 a0002c0002t0003g0302 a0002c0002t0003g0309 a0002c0002t0003g0310 a0002c0016t0001g0316	14	151	0.0927	11	c.-39 others(30): Show c.-39-13658_-39-13648dupTTTTTTTTTTT	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
SRRM3_chr7_76196896_76292287	76236005	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	117	0.0085	11	c.233 others(26): Show c.233+721_233+731dupAAAAAAAAAAA	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
SRRM3_chr7_76196896_76292287	76255148	C C	CTTTCTTT others(4): Show CTTTCTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04204.hp1 NA18990.hp1 others(1): Show HG04199.hp2 HG04204.hp1 NA18990.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0001 a0002c0006t0001 a0002c0002t0001 a0002c0006t0001	a0002c0002t0001g0282 a0002c0006t0001g0281 a0002c0006t0001g0283 others(1): Show a0002c0002t0001g0282 a0002c0006t0001g0281 a0002c0006t0001g0283 a0002c0006t0001g0284	4	103	0.0388	11	c.336 others(28): Show c.336-4755_336-4754insCTTTTTTTTTT	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
SRRM3_chr7_76196896_76292287	76255148	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	100	0.0100	11	c.336 others(28): Show c.336-4749_336-4739dupTTTTTTTTTTT	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
SRRM3_chr7_76196896_76292287	76263875	G G	GCCAAAAA others(4): Show GCCAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	257	0.0039	11	c.675 others(26): Show c.675-890_675-889insCCAAAAAAAAA	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	8/14			chr7	TogoVar
SRRM4_chr12_118976541_119168051	118998268	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02886.hp2 HG01952.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0054 a0001c0001t0016 a0001c0001t0054	a0001c0001t0016g0059 a0001c0001t0054g0146 a0001c0001t0016g0059 a0001c0001t0054g0146	2	85	0.0235	11	c.131 others(30): Show c.131+16276_131+16286dupAAAAAAAAAAA	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRRM4_chr12_118976541_119168051	119100327	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00558.hp2 others(51): Show HG00099.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00741.hp2 HG01169.hp1 HG01258.hp1 HG01258.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01943.hp2 HG01952.hp2 HG02027.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02155.hp2 HG02273.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02683.hp2 HG02976.hp1 HG03209.hp1 HG03239.hp1 HG03579.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp2 HG04199.hp1 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp2 NA18944.hp2 NA18954.hp1 NA18955.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18971.hp2 NA18999.hp1 NA19007.hp2 NA19056.hp2 NA19058.hp2 NA19083.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0014	a0001c0001 a0001c0009 a0002c0002 others(2): Show a0001c0001 a0001c0009 a0002c0002 a0003c0003 a0014c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(28): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0022 a0001c0001t0029 a0001c0001t0031 a0001c0001t0035 a0001c0001t0054 a0001c0001t0059 a0001c0001t0067 a0001c0009t0070 a0002c0002t0002 a0002c0002t0008 a0002c0002t0023 a0002c0002t0049 a0002c0002t0055 a0003c0003t0007 a0003c0003t0015 a0003c0003t0047 a0014c0018t0002	a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0202 others(51): Show a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0202 a0001c0001t0001g0214 a0001c0001t0001g0228 a0001c0001t0001g0275 a0001c0001t0001g0279 a0001c0001t0001g0298 a0001c0001t0003g0191 a0001c0001t0003g0230 a0001c0001t0003g0245 a0001c0001t0004g0066 a0001c0001t0004g0143 a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0175 a0001c0001t0004g0326 a0001c0001t0005g0152 a0001c0001t0006g0079 a0001c0001t0006g0160 a0001c0001t0006g0323 a0001c0001t0009g0013 a0001c0001t0009g0020 a0001c0001t0010g0028 a0001c0001t0011g0068 a0001c0001t0012g0035 a0001c0001t0013g0317 a0001c0001t0014g0010 a0001c0001t0015g0120 a0001c0001t0016g0050 a0001c0001t0019g0190 a0001c0001t0022g0154 a0001c0001t0029g0206 a0001c0001t0031g0057 a0001c0001t0035g0003 a0001c0001t0054g0146 a0001c0001t0059g0287 a0001c0001t0067g0044 a0001c0009t0070g0265 a0002c0002t0002g0077 a0002c0002t0002g0097 a0002c0002t0002g0266 a0002c0002t0002g0270 a0002c0002t0008g0142 a0002c0002t0008g0229 a0002c0002t0008g0271 a0002c0002t0023g0029 a0002c0002t0023g0161 a0002c0002t0049g0048 a0002c0002t0055g0325 a0003c0003t0007g0075 a0003c0003t0015g0135 a0003c0003t0047g0056 a0014c0018t0002g0071	54	158	0.3418	11	c.132 others(28): Show c.132-1903_132-1893dupAAAAAAAAAAA	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRRM4_chr12_118976541_119168051	119163272	A A	AAGTGAGG others(4): Show AAGTGAGGAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0075 a0002c0002t0075	a0002c0002t0075g0231 a0002c0002t0075g0231	1	317	0.0032	11	c.64 others(22): Show c.6474_*6475insAGTGAGGAGTG	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding		222		chr12	TogoVar
SRSF1_chr17_57995919_58012246	57996483	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02809.hp1 HG03225.hp1 others(1): Show HG02451.hp1 HG02809.hp1 HG03225.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	4	148	0.0270	11	c.89 others(22): Show c.8922_*8923insTTTTTTTTTTT	SRSF1	ENSG00000136450.13	transcript	ENST00000258962.5	protein_coding		4435		chr17	TogoVar
SRSF3_chr6_36589362_36610600	36592057	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0040 a0001c0001t0009g0040	1	131	0.0076	11	c.-24 others(22): Show c.-2427_-2426insAAAAAAAAAAA	SRSF3	ENSG00000112081.17	transcript	ENST00000373715.11	protein_coding		2304		chr6	TogoVar
SRSF3_chr6_36589362_36610600	36596574	C C	CGGGGGGG others(4): Show CGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02258.hp2 HG02647.hp2 others(4): Show HG00558.hp2 HG02258.hp2 HG02647.hp2 HG02976.hp2 HG03688.hp2 NA18956.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0032 a0001c0001t0040 a0001c0001t0002 a0001c0001t0032 a0001c0001t0040	a0001c0001t0002g0007 a0001c0001t0002g0111 a0001c0001t0002g0118 others(4): Show a0001c0001t0002g0007 a0001c0001t0002g0111 a0001c0001t0002g0118 a0001c0001t0002g0128 a0001c0001t0002g0149 a0001c0001t0032g0103 a0001c0001t0040g0073	7	73	0.0959	11	c.-2- others(24): Show c.-2-177_-2-176insGGGGGGGGGGG	SRSF3	ENSG00000112081.17	transcript	ENST00000373715.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
SRSF3_chr6_36589362_36610600	36596581	G G	GGGGGGGG others(4): Show GGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0078 a0001c0001t0003g0078	1	377	0.0027	11	c.-2- others(24): Show c.-2-177_-2-176insGGGGGGGTGGG	SRSF3	ENSG00000112081.17	transcript	ENST00000373715.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
SRSF3_chr6_36589362_36610600	36601001	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA19009.hp1 NA18986.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0133 a0001c0001t0002g0121 a0001c0001t0002g0133	2	145	0.0138	11	c.342 others(26): Show c.342-136_342-126dupTTTTTTTTTTT	SRSF3	ENSG00000112081.17	transcript	ENST00000373715.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
SRSF4_chr1_29142743_29186900	29175694	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA20905.hp2 HG03669.hp1 NA20905.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0301 a0003c0003t0001g0302 a0003c0003t0001g0301 a0003c0003t0001g0302	2	91	0.0220	11	c.107 others(28): Show c.107+5941_107+5951dupTTTTTTTTTTT	SRSF4	ENSG00000116350.18	transcript	ENST00000373795.7	protein_coding	1/5			chr1	TogoVar
SRSF4_chr1_29142743_29186900	29178353	C C	CTTCTTTT others(4): Show CTTCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00609.hp2 others(110): Show HG00280.hp2 HG00438.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01891.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02027.hp2 HG02074.hp1 HG02109.hp1 HG02145.hp1 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02300.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02683.hp1 HG02723.hp1 HG02809.hp2 HG02895.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03225.hp1 HG03471.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18906.hp2 NA18942.hp2 NA18949.hp2 NA18954.hp1 NA18978.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18990.hp1 NA18995.hp2 NA18997.hp1 NA19010.hp1 NA19011.hp2 NA19043.hp2 NA19065.hp2 NA19079.hp1 NA19080.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0007 a0001c0001 a0009c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0009c0007t0002	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(102): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0002g0005 a0001c0001t0002g0009 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0003g0069 a0001c0001t0003g0093 a0001c0001t0003g0094 a0009c0007t0002g0060	113	238	0.4748	11	c.107 others(28): Show c.107+3292_107+3293insAAAAAAAAGAA	SRSF4	ENSG00000116350.18	transcript	ENST00000373795.7	protein_coding	1/5			chr1	TogoVar
SRSF6_chr20_43452896_43469243	43461334	G G	GTTTTTTT others(4): Show GTTTTTTTGTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp1 HG01106.hp1 HG01070.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0001 a0001c0001t0010g0001	2	307	0.0065	11	c.27 others(20): Show c.273_*274insTTTTTGTTTTT	SRSF6	ENSG00000124193.16	transcript	ENST00000244020.5	protein_coding	6/6	274	INFO_REALIGN_3_PRIME	chr20	TogoVar
SRXN1_chr20_641615_658200	642746	C C	CGGGGTGC others(4): Show CGGGGTGCGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01168.hp2 HG02109.hp2 others(21): Show HG00733.hp1 HG01168.hp2 HG02109.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp2 HG03017.hp2 HG03041.hp1 HG03225.hp2 HG03453.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG04199.hp1 HG04204.hp2 NA18952.hp1 NA18971.hp1 NA18980.hp2 NA18985.hp1 NA18995.hp1 NA19063.hp2 NA19064.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0024 a0001c0002t0002 a0001c0002t0004 a0001c0002t0016	a0001c0001t0001g0002 a0001c0001t0002g0045 a0001c0001t0002g0141 others(9): Show a0001c0001t0001g0002 a0001c0001t0002g0045 a0001c0001t0002g0141 a0001c0001t0004g0055 a0001c0001t0004g0089 a0001c0001t0004g0098 a0001c0001t0004g0122 a0001c0001t0024g0142 a0001c0002t0002g0156 a0001c0002t0004g0007 a0001c0002t0004g0150 a0001c0002t0016g0149	24	416	0.0577	11	c.59 others(22): Show c.5967_*5968insACCCGCACCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		3868		chr20	TogoVar
SRXN1_chr20_641615_658200	646515	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01496.hp1 HG02055.hp2 HG01069.hp2 HG01496.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0017 a0001c0001t0003 a0001c0001t0017	a0001c0001t0003g0003 a0001c0001t0003g0027 a0001c0001t0017g0087 a0001c0001t0003g0003 a0001c0001t0003g0027 a0001c0001t0017g0087	3	13	0.2308	11	c.21 others(22): Show c.2198_*2199insTTTTTTTTTTT	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		99		chr20	TogoVar
SS18L1_chr20_62138769_62187514	62167038	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01106.hp1 HG02165.hp2 others(7): Show HG00673.hp1 HG01106.hp1 HG02165.hp2 HG02738.hp1 HG03471.hp2 HG03516.hp2 HG03704.hp1 HG03942.hp2 NA18985.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0232 others(7): Show a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0232 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0244 a0001c0001t0002g0249 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0288	10	256	0.0391	11	c.916 others(28): Show c.916+1527_916+1528insTTTTTTTTTTT	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
SS18L1_chr20_62138769_62187514	62167041	T T	TTTTTTTT others(4): Show TTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0234	1	310	0.0032	11	c.916 others(28): Show c.916+1527_916+1528insTTTTTTTTTTG	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	8/10			chr20	TogoVar
SS18_chr18_26011253_26095613	26060771	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19240.hp2 HG03130.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0152 a0001c0001t0001g0114 a0001c0001t0001g0152	2	16	0.1250	11	c.232 others(28): Show c.232-3040_232-3030dupTTTTTTTTTTT	SS18	ENSG00000141380.14	transcript	ENST00000415083.7	protein_coding	3/10			chr18	TogoVar
SSBP2_chr5_81407804_81756097	81542817	T T	TCTCTCTC others(4): Show TCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0056 a0001c0002t0056	a0001c0002t0056g0058 a0001c0002t0056g0058	1	76	0.0132	11	c.283 others(30): Show c.283-29101_283-29100insGAGAGAGAGAG	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	4/16			chr5	TogoVar
SSBP2_chr5_81407804_81756097	81547036	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02559.hp1 others(2): Show HG01884.hp1 HG01891.hp1 HG02559.hp1 HG03130.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0029 a0001c0001t0054 a0001c0001t0057 others(2): Show a0001c0001t0029 a0001c0001t0054 a0001c0001t0057 a0001c0002t0049 a0001c0002t0051	a0001c0001t0029g0009 a0001c0001t0054g0012 a0001c0001t0057g0060 others(2): Show a0001c0001t0029g0009 a0001c0001t0054g0012 a0001c0001t0057g0060 a0001c0002t0049g0011 a0001c0002t0051g0010	5	7	0.7143	11	c.283 others(30): Show c.283-33330_283-33320dupTTTTTTTTTTT	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	4/16			chr5	TogoVar
SSBP2_chr5_81407804_81756097	81663398	T T	TTAAAGTA others(4): Show TTAAAGTAGATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0167 a0001c0001t0007g0167	1	204	0.0049	11	c.63- others(28): Show c.63-13070_63-13060dupTATCTACTTTA	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	1/16			chr5	TogoVar
SSBP3_chr1_54220432_54411394	54235448	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0037 a0001c0002t0013g0037	1	126	0.0079	11	c.927 others(28): Show c.927+3670_927+3680dupAAAAAAAAAAA	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	14/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54276608	C C	CACAAAAA others(4): Show CACAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0011 a0001c0001t0012g0011	1	61	0.0164	11	c.366 others(28): Show c.366+4829_366+4830insTTTTTTTTTGT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	5/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54337485	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01069.hp2 HG01192.hp2 others(11): Show HG00642.hp2 HG01069.hp2 HG01192.hp2 HG02040.hp1 HG02258.hp1 HG02451.hp2 HG02886.hp1 HG02965.hp1 HG03239.hp1 NA18522.hp1 NA19005.hp2 NA19067.hp1 NA19070.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0018 a0001c0001t0022 a0001c0004t0002	a0001c0001t0001g0025 a0001c0001t0001g0142 a0001c0001t0001g0143 others(11): Show a0001c0001t0001g0025 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0003g0204 a0001c0001t0003g0228 a0001c0001t0004g0082 a0001c0001t0005g0074 a0001c0001t0008g0244 a0001c0001t0010g0266 a0001c0001t0018g0243 a0001c0001t0022g0279 a0001c0004t0002g0078	14	76	0.1842	11	c.277 others(30): Show c.277-55969_277-55959dupAAAAAAAAAAA	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54384105	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0101 a0001c0001t0032g0101	1	27	0.0370	11	c.276 others(30): Show c.276+17745_276+17755dupTTTTTTTTTTT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54386683	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02717.hp1 HG03098.hp2 others(4): Show HG00408.hp1 HG02717.hp1 HG03098.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 a0001c0001t0018 a0001c0001t0024	a0001c0001t0001g0022 a0001c0001t0002g0024 a0001c0001t0004g0133 others(4): Show a0001c0001t0001g0022 a0001c0001t0002g0024 a0001c0001t0004g0133 a0001c0001t0004g0152 a0001c0001t0015g0018 a0001c0001t0018g0260 a0001c0001t0024g0140	7	82	0.0854	11	c.276 others(30): Show c.276+15167_276+15177dupAAAAAAAAAAA	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54396193	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02055.hp2 HG02129.hp1 others(12): Show HG00597.hp2 HG02055.hp2 HG02129.hp1 HG02300.hp1 HG02723.hp2 NA18942.hp2 NA18957.hp1 NA18959.hp2 NA18971.hp2 NA18983.hp1 NA18984.hp1 NA19043.hp2 NA19064.hp2 NA19080.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0023 a0001c0001t0024	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0064 others(12): Show a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0107 a0001c0001t0003g0176 a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0008g0248 a0001c0001t0010g0271 a0001c0001t0011g0005 a0001c0001t0011g0006 a0001c0001t0012g0007 a0001c0001t0016g0063 a0001c0001t0023g0008 a0001c0001t0024g0050	15	111	0.1351	11	c.276 others(28): Show c.276+5657_276+5667dupTTTTTTTTTTT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54396213	A A	AAAAAAAA others(4): Show AAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0158 a0001c0001t0035g0158	1	277	0.0036	11	c.276 others(28): Show c.276+5647_276+5648insGTTTTTTTTTT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSB_chr2_169793871_169817064	169800534	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02145.hp1 HG03098.hp2 others(7): Show HG01175.hp2 HG02145.hp1 HG03098.hp2 HG03139.hp1 NA18522.hp1 NA18943.hp1 NA18979.hp1 NA18991.hp2 NA19006.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0030 others(3): Show a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0074	10	18	0.5556	11	c.-9- others(24): Show c.-9-409_-9-399dupAAAAAAAAAAA	SSB	ENSG00000138385.16	transcript	ENST00000260956.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
SSB_chr2_169793871_169817064	169814468	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG02486.hp1 others(5): Show HG01891.hp1 HG02258.hp1 HG02486.hp1 HG02896.hp1 HG03139.hp2 NA19030.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0042 a0001c0001t0001g0071 others(4): Show a0001c0001t0001g0034 a0001c0001t0001g0042 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0173	8	33	0.2424	11	c.27 others(22): Show c.2712_*2713insAAAAAAAAAAA	SSB	ENSG00000138385.16	transcript	ENST00000260956.9	protein_coding		2405		chr2	TogoVar
SSC4D_chr7_76384337_76414697	76403347	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA19054.hp1 NA19089.hp1 NA18988.hp2 NA19054.hp1 NA19089.hp1	a0001 a0006 a0001 a0006	a0001c0005 a0006c0009 a0001c0005 a0006c0009	a0001c0005t0001 a0001c0005t0002 a0006c0009t0003 a0001c0005t0001 a0001c0005t0002 a0006c0009t0003	a0001c0005t0001g0281 a0001c0005t0002g0283 a0006c0009t0003g0099 a0001c0005t0001g0281 a0001c0005t0002g0283 a0006c0009t0003g0099	3	327	0.0092	11	c.133 others(26): Show c.133+959_133+960insAAAAAAAAAAA	SSC4D	ENSG00000146700.9	transcript	ENST00000275560.4	protein_coding	2/10			chr7	TogoVar
SSC4D_chr7_76384337_76414697	76405339	C C	CTTTCTTT others(4): Show CTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0277 a0001c0005t0002g0277	1	312	0.0032	11	c.-66 others(26): Show c.-66-835_-66-834insAAAGAAAGAAA	SSC4D	ENSG00000146700.9	transcript	ENST00000275560.4	protein_coding	1/10			chr7	TogoVar
SSC4D_chr7_76384337_76414697	76405340	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02717.hp2 HG03041.hp1 others(2): Show HG01884.hp2 HG02717.hp2 HG03041.hp1 HG03041.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0003c0003t0001 a0001c0001t0004 a0003c0003t0001	a0001c0001t0004g0018 a0001c0001t0004g0049 a0003c0003t0001g0110 others(2): Show a0001c0001t0004g0018 a0001c0001t0004g0049 a0003c0003t0001g0110 a0003c0003t0001g0111 a0003c0003t0001g0112	5	266	0.0188	11	c.-66 others(26): Show c.-66-836_-66-835insGAAAGAAAGAA	SSC4D	ENSG00000146700.9	transcript	ENST00000275560.4	protein_coding	1/10			chr7	TogoVar
SSC5D_chr19_55483436_55524099	55495234	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01069.hp1 HG01070.hp2 others(10): Show HG00733.hp2 HG01069.hp1 HG01070.hp2 HG01891.hp2 HG02723.hp2 HG02886.hp2 HG03195.hp2 HG03225.hp1 NA18947.hp1 NA18963.hp2 NA18992.hp1 NA19057.hp2 NA19083.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0007 a0008 a0009 a0012	a0001c0001 a0002c0038 a0003c0017 others(4): Show a0001c0001 a0002c0038 a0003c0017 a0007c0009 a0008c0012 a0009c0026 a0012c0021	a0001c0001t0001 a0002c0038t0002 a0003c0017t0002 others(4): Show a0001c0001t0001 a0002c0038t0002 a0003c0017t0002 a0007c0009t0002 a0008c0012t0001 a0009c0026t0001 a0012c0021t0002	a0001c0001t0001g0255 a0002c0038t0002g0301 a0003c0017t0002g0279 others(9): Show a0001c0001t0001g0255 a0002c0038t0002g0301 a0003c0017t0002g0279 a0007c0009t0002g0268 a0007c0009t0002g0311 a0008c0012t0001g0171 a0008c0012t0001g0174 a0008c0012t0001g0176 a0008c0012t0001g0177 a0009c0026t0001g0002 a0009c0026t0001g0208 a0012c0021t0002g0191	13	354	0.0367	11	c.138 others(28): Show c.1387+451_1387+452insATATATATATA	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13			chr19	TogoVar
SSH2_chr17_29620938_29935228	29913347	A A	AAAATTAT others(4): Show AAAATTATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18998.hp2 HG02074.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0042 a0001c0001t0001g0004 a0001c0001t0001g0042	2	86	0.0233	11	c.63+ others(28): Show c.63+16590_63+16591insATATATAATTT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSPN_chr12_26190573_26239777	26201028	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0140 a0001c0001t0003g0141	2	380	0.0053	11	c.279 others(28): Show c.279+5078_279+5088dupATATATATATA	SSPN	ENSG00000123096.12	transcript	ENST00000242729.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
SSPN_chr12_26190573_26239777	26201046	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0226 a0001c0001t0011g0226	1	211	0.0047	11	c.279 others(28): Show c.279+5095_279+5096insATATATATATA	SSPN	ENSG00000123096.12	transcript	ENST00000242729.7	protein_coding	1/2			chr12	TogoVar
SSR1_chr6_7276143_7318199	7303138	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0060 a0002c0002t0060	a0002c0002t0060g0296 a0002c0002t0060g0296	1	88	0.0114	11	c.280 others(26): Show c.280+401_280+411dupTTTTTTTTTTT	SSR1	ENSG00000124783.14	transcript	ENST00000244763.9	protein_coding	3/7			chr6	TogoVar
SSTR1_chr14_38202904_38218067	38212693	G G	GGGTTCTC others(4): Show GGGTTCTCAGGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0001 a0001c0002t0033g0001	1	454	0.0022	11	c.21 others(22): Show c.2129_*2139dupGGTTCTCAGGT	SSTR1	ENSG00000139874.6	transcript	ENST00000267377.3	protein_coding	3/3	2140	INFO_REALIGN_3_PRIME	chr14	TogoVar

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