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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SRPK2_chr7_105111374_105393921	105159448	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02300.hp1 HG01123.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0266 a0001c0001t0001g0246 a0001c0001t0001g0266	2	282	0.0071	18	c.621 others(35): Show c.621+1041_621+1058dupTTTTTTTTTTTTTTTTTT		SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	7/15						chr7	TogoVar
SRPK2_chr7_105111374_105393921	105168745	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01952.hp1 HG01975.hp2 others(13): Show HG00733.hp2 HG01952.hp1 HG01975.hp2 HG01993.hp2 HG02056.hp2 HG02071.hp1 HG02109.hp1 HG02280.hp1 HG02572.hp2 HG02647.hp2 HG03195.hp2 HG03516.hp1 HG03654.hp2 NA18975.hp1 NA19011.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0237 others(13): Show a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0257 a0001c0001t0001g0264 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0002g0239 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0002g0261	16	282	0.0567	18	c.338 others(33): Show c.338+394_338+411dupCACACACACACACACACA		SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	4/15						chr7	TogoVar
SRPK2_chr7_105111374_105393921	105170819	G G	GAAAGGAA others(11): Show GAAAGGAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	282	0.0036	18	c.230 others(35): Show c.230-1555_230-1554insTTCTTTCTTTCTTCCTTT		SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	3/15						chr7	TogoVar
SRPK2_chr7_105111374_105393921	105170967	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	282	0.0036	18	c.230 others(35): Show c.230-1703_230-1702insTTCTTTCTTTCTTTCTTT		SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	3/15						chr7	TogoVar
SRPK2_chr7_105111374_105393921	105245034	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	282	0.0036	18	c.72- others(35): Show c.72-41267_72-41250dupGTGTGTGTGTGTGTGTGT		SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15						chr7	TogoVar
SRPK2_chr7_105111374_105393921	105247531	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG01168.hp1 others(3): Show HG00642.hp1 HG00733.hp2 HG01168.hp1 HG01169.hp2 HG01975.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0254 a0001c0001t0002g0228 a0001c0001t0002g0253 others(3): Show a0001c0001t0001g0254 a0001c0001t0002g0228 a0001c0001t0002g0253 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0272	6	282	0.0213	18	c.72- others(35): Show c.72-43764_72-43747dupGTGTGTGTGTGTGTGTGT		SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15						chr7	TogoVar
SRPK2_chr7_105111374_105393921	105359150	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0034 a0001c0002t0003g0034	1	282	0.0036	18	c.71+ others(35): Show c.71+29480_71+29497dupAAAAAAAAAAAAAAAAAA		SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15						chr7	TogoVar
SRPK2_chr7_105111374_105393921	105369125	T T	TTTATTAT others(11): Show TTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	282	0.0036	18	c.71+ others(35): Show c.71+19505_71+19522dupTAATAATAATAATAATAA		SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15						chr7	TogoVar
SRPX2_chrX_100639199_100680788	100657349	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0069	1	318	0.0031	18	c.164 others(35): Show c.164-4825_164-4808dupTTTTTTTTTTTTTTTTTT		SRPX2	ENSG00000102359.9	transcript	ENST00000373004.5	protein_coding	3/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
SRPX_chrX_38144339_38225871	38148377	G G	GCTTTCTG others(11): Show GCTTTCTGTGTTAAATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	257	0.0039	18	c.13 others(29): Show c.1333_*1334insGAGATTTAACACAGAAAG		SRPX	ENSG00000101955.15	transcript	ENST00000378533.4	protein_coding					961		chrX	TogoVar
SRRD_chr22_26478877_26499658	26490559	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	448	0.0022	18	c.764 others(33): Show c.764+366_764+383dupTTTTTTTTTTTTTTTTTT		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(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02135.hp2 HG02976.hp1 others(1): Show HG02109.hp1 HG02135.hp2 HG02976.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0003 a0001c0001t0001 a0001c0001t0003 a0001c0003t0003	a0001c0001t0001g0153 a0001c0001t0001g0165 a0001c0001t0003g0149 others(1): Show a0001c0001t0001g0153 a0001c0001t0001g0165 a0001c0001t0003g0149 a0001c0003t0003g0015	4	352	0.0114	18	c.-28 others(29): Show c.-2808_-2807insAAAAAAAAAAAAAAAAAA		SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding					2782		chr1	TogoVar
SRRM1_chr1_24638302_24678281	24652029	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02451.hp1 HG02738.hp1 others(4): Show HG02165.hp2 HG02451.hp1 HG02738.hp1 HG03453.hp2 NA18966.hp2 NA19075.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0007t0001 a0001c0001t0001 a0001c0001t0003 a0001c0007t0001	a0001c0001t0001g0021 a0001c0001t0001g0139 a0001c0001t0001g0155 others(4): Show a0001c0001t0001g0021 a0001c0001t0001g0139 a0001c0001t0001g0155 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0003g0052 a0001c0007t0001g0021	7	352	0.0199	18	c.726 others(33): Show c.726-388_726-371dupATATATATATATATATAT		SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding	6/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRRM3_chr7_76196896_76292287	76221359	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18990.hp1 HG02622.hp1 NA18990.hp1	a0002 a0002	a0002c0006 a0002c0018 a0002c0006 a0002c0018	a0002c0006t0001 a0002c0018t0003 a0002c0006t0001 a0002c0018t0003	a0002c0006t0001g0284 a0002c0018t0003g0324 a0002c0006t0001g0284 a0002c0018t0003g0324	2	324	0.0062	18	c.-39 others(37): Show c.-39-13665_-39-13648dupTTTTTTTTTTTTTTTTTT		SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
SRRM3_chr7_76196896_76292287	76234194	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18990.hp1 NA19030.hp2 others(1): Show NA18951.hp1 NA18990.hp1 NA19030.hp2 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0001 a0002c0002t0003 a0002c0006t0001 a0002c0002t0001 a0002c0002t0003 a0002c0006t0001	a0002c0002t0001g0266 a0002c0002t0003g0015 a0002c0006t0001g0283 others(1): Show a0002c0002t0001g0266 a0002c0002t0003g0015 a0002c0006t0001g0283 a0002c0006t0001g0284	4	324	0.0124	18	c.-39 others(33): Show c.-39-821_-39-804dupGTGTGTGTGTGTGTGTGT		SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
SRRM4_chr12_118976541_119168051	119043775	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0044 a0001c0001t0018g0044	1	328	0.0031	18	c.132 others(37): Show c.132-58445_132-58428dupCACACACACACACACACA		SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr12	TogoVar
SRRM4_chr12_118976541_119168051	119117596	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01070.hp1 HG01123.hp1 others(21): Show HG00741.hp1 HG01070.hp1 HG01123.hp1 HG01243.hp2 HG01361.hp1 HG01496.hp1 HG01934.hp1 HG01975.hp1 HG02040.hp1 HG02071.hp1 HG02129.hp2 HG02135.hp1 HG02486.hp1 HG02698.hp2 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03942.hp1 HG04204.hp1 NA18945.hp1 NA18955.hp1 NA18998.hp2 NA19058.hp1 NA19070.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0009 a0002c0002 others(2): Show a0001c0001 a0001c0009 a0002c0002 a0003c0003 a0006c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0050 a0001c0001t0087 a0001c0001t0104 a0001c0001t0115 a0001c0001t0116 a0001c0001t0127 a0001c0001t0145 a0001c0009t0124 a0002c0002t0008 a0002c0002t0134 a0002c0002t0136 a0003c0003t0001 a0003c0003t0007 a0003c0003t0017 a0003c0003t0031 a0003c0003t0056 a0006c0006t0132	a0001c0001t0001g0153 a0001c0001t0003g0036 a0001c0001t0003g0159 others(20): Show a0001c0001t0001g0153 a0001c0001t0003g0036 a0001c0001t0003g0159 a0001c0001t0006g0001 a0001c0001t0007g0134 a0001c0001t0050g0071 a0001c0001t0087g0313 a0001c0001t0104g0079 a0001c0001t0115g0122 a0001c0001t0116g0114 a0001c0001t0127g0199 a0001c0001t0145g0203 a0001c0009t0124g0078 a0002c0002t0008g0198 a0002c0002t0134g0251 a0002c0002t0136g0188 a0003c0003t0001g0083 a0003c0003t0001g0128 a0003c0003t0007g0090 a0003c0003t0017g0277 a0003c0003t0031g0232 a0003c0003t0056g0073 a0006c0006t0132g0074	24	328	0.0732	18	c.437 others(33): Show c.437+590_437+607dupACACACACACACACACAC		SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr12	TogoVar
SRRM5_chr19_43607088_43619498	43609359	G G	GGAGAGAG others(11): Show GGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01257.hp2 others(8): Show HG01167.hp2 HG01169.hp2 HG01257.hp2 HG01952.hp1 HG01993.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02572.hp2 NA18971.hp1 NA19084.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0001 a0002c0002t0001 a0004c0004t0001	a0002c0002t0001g0000 a0004c0004t0001g0000 a0002c0002t0001g0000 a0004c0004t0001g0000	11	416	0.0264	18	c.-27 others(29): Show c.-2763_-2762insGAGAGAGAGAGAGAGAGA		SRRM5	ENSG00000226763.5	transcript	ENST00000417606.3	protein_coding					2728		chr19	TogoVar
SRRM5_chr19_43607088_43619498	43609360	G G	GAGAGAGA others(11): Show GAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp2 others(184): Show HG00099.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02280.hp1 HG02300.hp1 HG02451.hp2 HG02559.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG02896.hp1 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18954.hp2 NA18956.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19004.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 others(7): Show a0001 a0002 a0007 a0011 a0012 a0013 a0015 a0016 a0018 a0021	a0001c0001 a0001c0016 a0001c0017 others(9): Show a0001c0001 a0001c0016 a0001c0017 a0002c0002 a0007c0008 a0011c0012 a0012c0024 a0013c0021 a0015c0022 a0016c0013 a0018c0020 a0021c0026	a0001c0001t0001 a0001c0001t0002 a0001c0016t0001 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0016t0001 a0001c0017t0001 a0002c0002t0001 a0007c0008t0001 a0011c0012t0002 a0012c0024t0001 a0013c0021t0001 a0015c0022t0001 a0016c0013t0001 a0018c0020t0001 a0021c0026t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0016t0001g0000 others(10): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0016t0001g0000 a0001c0017t0001g0000 a0002c0002t0001g0000 a0007c0008t0001g0000 a0011c0012t0002g0000 a0012c0024t0001g0000 a0013c0021t0001g0000 a0015c0022t0001g0000 a0016c0013t0001g0000 a0018c0020t0001g0000 a0021c0026t0001g0000	187	416	0.4495	18	c.-27 others(29): Show c.-2762_-2761insAGAGAGAGAGAGAGAGAA		SRRM5	ENSG00000226763.5	transcript	ENST00000417606.3	protein_coding					2727		chr19	TogoVar
SRRM5_chr19_43607088_43619498	43609360	G G	GAGAGAGG others(11): Show GAGAGAGGGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	416	0.0024	18	c.-27 others(29): Show c.-2762_-2761insAGAGAGGGAGAGAGAGAA		SRRM5	ENSG00000226763.5	transcript	ENST00000417606.3	protein_coding					2727		chr19	TogoVar
SRRM5_chr19_43607088_43619498	43609365	A A	AGAGAGAG others(11): Show AGAGAGAGAGAGAAAGAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	416	0.0048	18	c.-27 others(29): Show c.-2757_-2756insGAGAGAGAGAGAAAGAGC		SRRM5	ENSG00000226763.5	transcript	ENST00000417606.3	protein_coding					2722		chr19	TogoVar
SRR_chr17_2298950_2330260	2321401	A A	AATTGCCC others(11): Show AATTGCCCTGGAAGTGCTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19055.hp1 NA19055.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0096 a0003c0003t0001g0096	1	370	0.0027	18	c.497 others(25): Show c.497_514dupTTGCCCTGGAAGTGCTGA	p.Ile others(13): Show p.Ile166_Leu171dup	SRR	ENSG00000167720.13	transcript	ENST00000344595.10	protein_coding	5/8	587/2482	515/1023	172/340		INFO_REALIGN_3_PRIME	chr17	TogoVar
SRSF3_chr6_36589362_36610600	36596571	T T	TGGGCGGG others(11): Show TGGGCGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0198 a0001c0001t0003g0198	1	382	0.0026	18	c.-2- others(31): Show c.-2-188_-2-187insGCGGGGGGGGGGGGGGGG		SRSF3	ENSG00000112081.17	transcript	ENST00000373715.11	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr6	TogoVar
SRSF3_chr6_36589362_36610600	36596574	C C	CGGGGGGG others(11): Show CGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01516.hp1 HG02148.hp1 others(3): Show HG01243.hp2 HG01516.hp1 HG02148.hp1 HG02559.hp1 HG02615.hp1 NA18940.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0002c0006t0002	a0001c0001t0002g0039 a0001c0001t0002g0191 a0001c0001t0003g0087 others(2): Show a0001c0001t0002g0039 a0001c0001t0002g0191 a0001c0001t0003g0087 a0001c0001t0013g0112 a0002c0006t0002g0187	6	382	0.0157	18	c.-2- others(31): Show c.-2-177_-2-176insGGGGGGGGGGGGGGGGGG		SRSF3	ENSG00000112081.17	transcript	ENST00000373715.11	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr6	TogoVar
SRSF8_chr11_95061919_95076225	95070368	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00609.hp1 others(9): Show HG00099.hp2 HG00323.hp1 HG00609.hp1 HG02056.hp1 HG02280.hp1 HG02300.hp1 HG02559.hp2 HG02647.hp1 HG03579.hp1 NA18943.hp2 NA19030.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0035 a0001c0001t0007 a0001c0001t0035	a0001c0001t0007g0000 a0001c0001t0035g0000 a0001c0001t0007g0000 a0001c0001t0035g0000	12	402	0.0299	18	c.23 others(29): Show c.2309_*2310insAAAAAAAAAAAAAAAAAA		SRSF8	ENSG00000263465.5	transcript	ENST00000587424.3	protein_coding	1/1				2310	INFO_REALIGN_3_PRIME	chr11	TogoVar
SRXN1_chr20_641615_658200	646515	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG00673.hp2 others(43): Show HG00423.hp1 HG00597.hp2 HG00673.hp2 HG01106.hp2 HG01192.hp2 HG01943.hp2 HG02027.hp1 HG02027.hp2 HG02074.hp2 HG02109.hp2 HG02572.hp1 HG02630.hp1 HG02647.hp2 HG02895.hp2 HG03041.hp1 HG03130.hp2 HG03486.hp2 HG03669.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 NA18945.hp2 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18959.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp2 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18990.hp1 NA18991.hp1 NA19001.hp2 NA19003.hp2 NA19005.hp2 NA19055.hp2 NA19056.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp2 NA19079.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0025 a0001c0002t0005 a0001c0002t0029 a0001c0005t0002	a0001c0001t0001g0024 a0001c0001t0002g0001 a0001c0001t0002g0004 others(20): Show a0001c0001t0001g0024 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0030 a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0057 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0080 a0001c0001t0002g0125 a0001c0001t0002g0141 a0001c0001t0005g0032 a0001c0001t0005g0085 a0001c0001t0006g0002 a0001c0001t0006g0008 a0001c0001t0011g0023 a0001c0001t0011g0121 a0001c0001t0025g0004 a0001c0002t0005g0154 a0001c0002t0029g0158 a0001c0005t0002g0049	46	422	0.1090	18	c.21 others(29): Show c.2198_*2199insTTTTTTTTTTTTTTTTTT		SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding					99		chr20	TogoVar
SS18L1_chr20_62138769_62187514	62146605	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp2 HG03017.hp1 others(2): Show HG01255.hp1 HG01255.hp2 HG03017.hp1 HG03492.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0014 a0001c0002 a0002c0014	a0001c0002t0004 a0001c0002t0023 a0001c0002t0026 others(1): Show a0001c0002t0004 a0001c0002t0023 a0001c0002t0026 a0002c0014t0009	a0001c0002t0004g0281 a0001c0002t0004g0282 a0001c0002t0023g0279 others(2): Show a0001c0002t0004g0281 a0001c0002t0004g0282 a0001c0002t0023g0279 a0001c0002t0026g0280 a0002c0014t0009g0030	5	316	0.0158	18	c.69+ others(33): Show c.69+2720_69+2737dupTTTTTTTTTTTTTTTTTT		SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
SS18_chr18_26011253_26095613	26065800	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01071.hp1 HG01255.hp2 others(29): Show HG00642.hp2 HG01071.hp1 HG01255.hp2 HG01358.hp1 HG01517.hp2 HG01891.hp2 HG01978.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02145.hp2 HG02293.hp1 HG02615.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02735.hp1 HG03239.hp1 HG03516.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp2 NA18612.hp2 NA18949.hp2 NA18968.hp2 NA18986.hp2 NA19043.hp1 NA19065.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0002c0003t0001	a0001c0001t0001g0019 a0001c0001t0001g0041 a0001c0001t0001g0115 others(29): Show a0001c0001t0001g0019 a0001c0001t0001g0041 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0200 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0001g0255 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0269 a0001c0001t0001g0278 a0001c0001t0001g0287 a0001c0001t0001g0304 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0008g0301 a0001c0001t0011g0021 a0002c0003t0001g0102	32	318	0.1006	18	c.232 others(35): Show c.232-8076_232-8059dupATATATATATATATATAT		SS18	ENSG00000141380.14	transcript	ENST00000415083.7	protein_coding	3/10						chr18	TogoVar
SSBP2_chr5_81407804_81756097	81445136	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0101 a0001c0001t0058g0101	1	206	0.0049	18	c.802 others(35): Show c.802+1731_802+1732insTATATATATATATATATA		SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	12/16						chr5	TogoVar
SSBP2_chr5_81407804_81756097	81445138	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	206	0.0049	18	c.802 others(35): Show c.802+1712_802+1729dupTATATATATATATATATA		SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	12/16						chr5	TogoVar
SSBP2_chr5_81407804_81756097	81488010	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0066 a0001c0002t0039g0066	1	206	0.0049	18	c.432 others(35): Show c.432+1222_432+1239dupATATATATATATATATAT		SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	6/16						chr5	TogoVar
SSBP2_chr5_81407804_81756097	81501268	T T	TATATATA others(11): Show TATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	206	0.0049	18	c.373 others(37): Show c.373-11960_373-11959insGTGTGTATATATATATAT		SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	5/16						chr5	TogoVar
SSBP2_chr5_81407804_81756097	81542817	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02886.hp2 HG03453.hp2 others(1): Show HG01496.hp1 HG02886.hp2 HG03453.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0018 others(1): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0018 a0001c0001t0044	a0001c0001t0004g0155 a0001c0001t0007g0100 a0001c0001t0018g0192 others(1): Show a0001c0001t0004g0155 a0001c0001t0007g0100 a0001c0001t0018g0192 a0001c0001t0044g0206	4	206	0.0194	18	c.283 others(37): Show c.283-29118_283-29101dupGAGAGAGAGAGAGAGAGA		SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	4/16						chr5	TogoVar
SSBP3_chr1_54220432_54411394	54240047	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0170 a0001c0001t0003g0170	1	280	0.0036	18	c.856 others(33): Show c.856+840_857-849dupACACACACACACACACAC		SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	13/17						chr1	TogoVar
SSBP3_chr1_54220432_54411394	54276608	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19240.hp1 HG03225.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0013 a0001c0001t0014 a0001c0002t0013	a0001c0001t0014g0065 a0001c0002t0013g0031 a0001c0001t0014g0065 a0001c0002t0013g0031	2	280	0.0071	18	c.366 others(35): Show c.366+4812_366+4829dupTTTTTTTTTTTTTTTTTT		SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	5/17						chr1	TogoVar
SSBP3_chr1_54220432_54411394	54282041	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02148.hp1 HG02148.hp2 others(9): Show HG01346.hp1 HG02148.hp1 HG02148.hp2 HG02293.hp1 HG02293.hp2 HG02615.hp2 HG02895.hp1 HG03225.hp2 HG03491.hp1 HG03540.hp2 HG03710.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0035	a0001c0001t0002g0032 a0001c0001t0002g0121 a0001c0001t0003g0162 others(9): Show a0001c0001t0002g0032 a0001c0001t0002g0121 a0001c0001t0003g0162 a0001c0001t0003g0196 a0001c0001t0003g0230 a0001c0001t0004g0126 a0001c0001t0006g0219 a0001c0001t0006g0221 a0001c0001t0006g0225 a0001c0001t0008g0240 a0001c0001t0008g0241 a0001c0001t0035g0158	12	280	0.0429	18	c.277 others(33): Show c.277-532_277-515dupATTATTATTATTATTATT		SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17						chr1	TogoVar
SSBP3_chr1_54220432_54411394	54298930	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp1 HG00621.hp2 others(33): Show HG00323.hp2 HG00621.hp1 HG00621.hp2 HG00738.hp1 HG00738.hp2 HG01081.hp2 HG01168.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG02056.hp1 HG02109.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp1 HG03130.hp2 HG03239.hp1 HG03654.hp1 HG03710.hp1 HG04115.hp1 HG04115.hp2 NA18522.hp1 NA18982.hp1 NA18983.hp1 NA19000.hp2 NA19064.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0021 a0001c0001t0022 a0001c0001t0040 a0001c0001t0046 a0001c0002t0013	a0001c0001t0001g0024 a0001c0001t0001g0055 a0001c0001t0001g0097 others(33): Show a0001c0001t0001g0024 a0001c0001t0001g0055 a0001c0001t0001g0097 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0153 a0001c0001t0002g0019 a0001c0001t0002g0053 a0001c0001t0002g0069 a0001c0001t0002g0073 a0001c0001t0002g0089 a0001c0001t0002g0113 a0001c0001t0002g0144 a0001c0001t0002g0151 a0001c0001t0003g0171 a0001c0001t0003g0202 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0132 a0001c0001t0005g0067 a0001c0001t0006g0225 a0001c0001t0007g0165 a0001c0001t0007g0177 a0001c0001t0007g0200 a0001c0001t0007g0204 a0001c0001t0007g0206 a0001c0001t0009g0192 a0001c0001t0010g0266 a0001c0001t0010g0277 a0001c0001t0015g0014 a0001c0001t0021g0212 a0001c0001t0022g0279 a0001c0001t0040g0184 a0001c0001t0046g0280 a0001c0002t0013g0036	36	280	0.1286	18	c.277 others(37): Show c.277-17421_277-17404dupGTGTGTGTGTGTGTGTGT		SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17						chr1	TogoVar
SSBP3_chr1_54220432_54411394	54337485	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02970.hp1 HG03486.hp2 HG02735.hp2 HG02970.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0006 a0001c0002t0013 a0001c0001t0005 a0001c0001t0006 a0001c0002t0013	a0001c0001t0005g0067 a0001c0001t0006g0183 a0001c0002t0013g0088 a0001c0001t0005g0067 a0001c0001t0006g0183 a0001c0002t0013g0088	3	280	0.0107	18	c.277 others(37): Show c.277-55976_277-55959dupAAAAAAAAAAAAAAAAAA		SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17						chr1	TogoVar
SSBP3_chr1_54220432_54411394	54386683	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02809.hp2 HG02895.hp2 others(6): Show HG02145.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03130.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0002t0013 a0001c0004t0002	a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0004g0061 others(6): Show a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0004g0061 a0001c0001t0004g0105 a0001c0001t0005g0070 a0001c0001t0005g0103 a0001c0001t0010g0273 a0001c0002t0013g0036 a0001c0004t0002g0071	9	280	0.0321	18	c.276 others(37): Show c.276+15160_276+15177dupAAAAAAAAAAAAAAAAAA		SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17						chr1	TogoVar
SSBP3_chr1_54220432_54411394	54396193	G G	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02129.hp2 HG01258.hp1 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0028 a0001c0001t0004 a0001c0001t0028	a0001c0001t0004g0077 a0001c0001t0028g0269 a0001c0001t0004g0077 a0001c0001t0028g0269	2	280	0.0071	18	c.276 others(35): Show c.276+5650_276+5667dupTTTTTTTTTTTTTTTTTT		SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17						chr1	TogoVar
SSC4D_chr7_76384337_76414697	76393371	C C	CCGCTGTC others(11): Show CCGCTGTCAGCCTCACCTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	388	0.0026	18	c.133 others(33): Show c.1333+16_1333+33dupAAGGTGAGGCTGACAGCG		SSC4D	ENSG00000146700.9	transcript	ENST00000275560.4	protein_coding	9/10						chr7	TogoVar
SSC4D_chr7_76384337_76414697	76405271	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03927.hp2 HG01109.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0279 a0001c0001t0001g0170 a0001c0001t0001g0279	2	388	0.0052	18	c.-66 others(33): Show c.-66-784_-66-767dupTATATATATATATATATA		SSC4D	ENSG00000146700.9	transcript	ENST00000275560.4	protein_coding	1/10						chr7	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(11): Show ATATATATATATATATAAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02165.hp2 NA18612.hp2 others(8): Show HG00609.hp2 HG02165.hp2 NA18612.hp2 NA18942.hp2 NA18980.hp1 NA19058.hp1 NA19065.hp2 NA19066.hp1 NA19085.hp1 NA19088.hp1 NA19091.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0059	a0001c0074 a0003c0109 a0004c0004 others(1): Show a0001c0074 a0003c0109 a0004c0004 a0059c0051	a0001c0074t0001 a0003c0109t0002 a0004c0004t0001 others(1): Show a0001c0074t0001 a0003c0109t0002 a0004c0004t0001 a0059c0051t0001	a0001c0074t0001g0289 a0003c0109t0002g0237 a0004c0004t0001g0240 others(8): Show a0001c0074t0001g0289 a0003c0109t0002g0237 a0004c0004t0001g0240 a0004c0004t0001g0241 a0004c0004t0001g0340 a0004c0004t0001g0361 a0004c0004t0001g0365 a0004c0004t0001g0374 a0004c0004t0001g0375 a0004c0004t0001g0376 a0059c0051t0001g0364	11	412	0.0267	18	c.138 others(35): Show c.1387+451_1387+452insATATATATATATATAATT		SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(11): Show ATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	412	0.0024	18	c.138 others(35): Show c.1387+451_1387+452insATATATATATATTTTTTT		SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr19	TogoVar
SSH2_chr17_29620938_29935228	29709015	T T	TATATATA others(11): Show TATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	232	0.0043	18	c.189 others(35): Show c.189-5954_189-5953insCTCTCTCTATATATATAT		SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	3/15						chr17	TogoVar
SSH2_chr17_29620938_29935228	29742481	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0187 a0002c0002t0002g0187	1	232	0.0043	18	c.189 others(37): Show c.189-39437_189-39420dupAAAAAAAAAAAAAAAAAA		SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	3/15						chr17	TogoVar
SSH2_chr17_29620938_29935228	29841892	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0014 a0005c0007t0014	a0005c0007t0014g0112 a0005c0007t0014g0112	1	232	0.0043	18	c.144 others(35): Show c.144+6939_144+6956dupAAAAAAAAAAAAAAAAAA		SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	2/15						chr17	TogoVar
SSPN_chr12_26190573_26239777	26233331	G G	GATATATA others(11): Show GATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02818.hp2 HG02965.hp2 HG02818.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0062 a0001c0001t0061 a0001c0001t0062	a0001c0001t0061g0155 a0001c0001t0062g0154 a0001c0001t0061g0155 a0001c0001t0062g0154	2	384	0.0052	18	c.22 others(29): Show c.2257_*2274dupTATATATATATATATATA		SSPN	ENSG00000123096.12	transcript	ENST00000242729.7	protein_coding	3/3				2275	INFO_REALIGN_3_PRIME	chr12	TogoVar
SSPN_chr12_26190573_26239777	26233355	T T	TATATATA others(11): Show TATATATATATATATATAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0047 a0005c0006t0047	a0005c0006t0047g0105 a0005c0006t0047g0105	1	384	0.0026	18	c.22 others(29): Show c.2280_*2281insTATATATATATATATACA		SSPN	ENSG00000123096.12	transcript	ENST00000242729.7	protein_coding	3/3				2281	INFO_REALIGN_3_PRIME	chr12	TogoVar
SSTR1_chr14_38202904_38218067	38213114	A A	AACACACA others(11): Show AACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG03491.hp1 HG03492.hp2 HG02698.hp1 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0020 a0001c0001t0005 a0001c0001t0020	a0001c0001t0005g0003 a0001c0001t0020g0002 a0001c0001t0005g0003 a0001c0001t0020g0002	3	456	0.0066	18	c.25 others(29): Show c.2549_*2550insACACACACACACACACAC		SSTR1	ENSG00000139874.6	transcript	ENST00000267377.3	protein_coding					48		chr14	TogoVar

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