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
SHLD3_chr5_65620027_65635928	65629265	T T	TATAGGGC others(10): Show TATAGGGCATCTAGTTCA	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	404	0.0025	17	c.-12 others(34): Show c.-120-202_-120-186dupATAGGGCATCTAGTTCA	SHLD3	ENSG00000253251.3	transcript	ENST00000510585.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
SHOX2_chr3_158090905_158111420	158094507	C C	CGCTCCCG others(10): Show CGCTCCCGCCGCGGCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02735.hp2 NA18945.hp2 others(2): Show HG02698.hp1 HG02735.hp2 NA18945.hp2 NA19080.hp1 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0038 a0001c0002t0009 a0001c0002t0038	a0001c0002t0009g0020 a0001c0002t0009g0081 a0001c0002t0038g0082 a0001c0002t0009g0020 a0001c0002t0009g0081 a0001c0002t0038g0082	5	378	0.0132	17	c.35 others(28): Show c.3519_*3520insCGGGCCGCGGCGGGAGC	SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding		1397		chr3	TogoVar
SHOX2_chr3_158090905_158111420	158106620	A A	AGAGAGAG others(10): Show AGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 NA18983.hp2 HG02132.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0002 a0001c0001t0004g0006 a0001c0001t0001g0002 a0001c0001t0004g0006	2	358	0.0056	17	c.-59 others(26): Show c.-597_-596insCTCTCTCTCTCTCTCTC	SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding		201		chr3	TogoVar
SHOX_chrX_625791_656584	648889	C C	CCCTTCTC others(10): Show CCCTTCTCCTTCCTTCCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp2 HG02809.hp1 HG02897.hp2 HG02257.hp2 HG02809.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0166 a0001c0001t0167 a0001c0001t0091 a0001c0001t0166 a0001c0001t0167	a0001c0001t0091g0129 a0001c0001t0166g0070 a0001c0001t0167g0123 a0001c0001t0091g0129 a0001c0001t0166g0070 a0001c0001t0167g0123	3	97	0.0309	17	c.42 others(28): Show c.4253_*4254insCCTTCTCCTTCCTTCCT	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	5/5	4254		chrX	TogoVar
SHPK_chr17_3603240_3641250	3611799	T T	TTTTTTTA others(10): Show TTTTTTTAGCTCTGCGGG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	378	0.0026	17	c.102 others(34): Show c.1025-828_1025-827insCCCGCAGAGCTAAAAAA	SHPK	ENSG00000197417.9	transcript	ENST00000225519.5	protein_coding	6/6			chr17	TogoVar
SHPK_chr17_3603240_3641250	3635230	G G	GAAGGAAG others(10): Show GAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0251 a0001c0001t0003g0251	1	380	0.0026	17	c.168 others(32): Show c.168+821_168+822insTCCTTCCTTCCTTCCTT	SHPK	ENSG00000197417.9	transcript	ENST00000225519.5	protein_coding	1/6			chr17	TogoVar
SHPK_chr17_3603240_3641250	3635240	A A	AGGAAGGA others(10): Show AGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp1 HG00735.hp2 others(24): Show HG00438.hp1 HG00673.hp1 HG00735.hp2 HG01081.hp1 HG01123.hp2 HG01261.hp2 HG01496.hp1 HG01952.hp1 HG02004.hp1 HG02004.hp2 HG02071.hp2 HG02074.hp2 HG02273.hp1 HG02300.hp1 HG02886.hp2 NA18612.hp2 NA18950.hp1 NA18974.hp1 NA18984.hp1 NA19000.hp2 NA19005.hp1 NA19010.hp1 NA19067.hp1 NA19086.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0025 a0002c0002t0002	a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 others(23): Show a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0003g0158 a0001c0001t0003g0173 a0001c0001t0004g0010 a0001c0001t0004g0165 a0001c0001t0004g0172 a0001c0001t0008g0159 a0001c0001t0010g0181 a0001c0001t0025g0169 a0002c0002t0002g0175 a0002c0002t0002g0180	27	306	0.0882	17	c.168 others(32): Show c.168+811_168+812insCTTCCTTCCTTCCTTCC	SHPK	ENSG00000197417.9	transcript	ENST00000225519.5	protein_coding	1/6			chr17	TogoVar
SHQ1_chr3_72744277_72853445	72757483	T T	TGGCCTCA others(10): Show TGGCCTCAGCAGCCCTCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00558.hp1 others(80): Show HG00140.hp1 HG00438.hp1 HG00558.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG01978.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02109.hp2 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG04115.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18950.hp2 NA18967.hp1 NA18969.hp1 NA19030.hp2 NA19054.hp1 NA19088.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009	a0001c0001 a0002c0002 a0002c0008 others(6): Show a0001c0001 a0002c0002 a0002c0008 a0003c0003 a0004c0004 a0005c0006 a0006c0005 a0008c0009 a0009c0012	a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 others(9): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0008t0001 a0003c0003t0001 a0004c0004t0001 a0005c0006t0001 a0006c0005t0001 a0008c0009t0002 a0009c0012t0001	a0001c0001t0001g0058 a0002c0002t0001g0010 a0002c0002t0001g0011 others(80): Show a0001c0001t0001g0058 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0021 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0080 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0209 a0002c0002t0004g0003 a0002c0002t0004g0004 a0002c0002t0004g0005 a0002c0002t0004g0006 a0002c0002t0005g0025 a0002c0002t0005g0026 a0002c0002t0005g0027 a0002c0002t0006g0002 a0002c0008t0001g0008 a0002c0008t0001g0022 a0003c0003t0001g0210 a0003c0003t0001g0211 a0003c0003t0001g0212 a0003c0003t0001g0213 a0003c0003t0001g0214 a0003c0003t0001g0215 a0003c0003t0001g0216 a0003c0003t0001g0217 a0003c0003t0001g0218 a0003c0003t0001g0219 a0004c0004t0001g0110 a0004c0004t0001g0111 a0004c0004t0001g0112 a0005c0006t0001g0124 a0005c0006t0001g0129 a0005c0006t0001g0130 a0006c0005t0001g0117 a0006c0005t0001g0135 a0006c0005t0001g0189 a0008c0009t0002g0220 a0008c0009t0002g0221 a0009c0012t0001g0123	83	220	0.3773	17	c.118 others(36): Show c.1182-6664_1182-6648dupGGAGGGCTGCTGAGGCC	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10			chr3	TogoVar
SHQ1_chr3_72744277_72853445	72765557	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	97	0.0103	17	c.118 others(38): Show c.1182-14722_1182-14721insAAAAAAAAATATATATA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10			chr3	TogoVar
SHROOM2_chrX_9781429_9954443	9782782	G G	GCAGAGAT others(10): Show GCAGAGATTGCAGTGAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00438.hp2 others(69): Show HG00099.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG01123.hp1 HG01123.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02602.hp1 HG02622.hp1 HG02698.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02965.hp1 HG03139.hp1 HG03195.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18960.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18977.hp1 NA18979.hp1 NA18982.hp1 NA19002.hp2 NA19010.hp2 NA19012.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA20300.hp1 NA20752.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0005 a0006 a0011 a0017 a0021 a0022 a0023 a0030 a0032 a0040	a0001c0001 a0001c0003 a0001c0007 others(23): Show a0001c0001 a0001c0003 a0001c0007 a0001c0012 a0001c0013 a0001c0048 a0002c0002 a0002c0006 a0002c0011 a0002c0014 a0002c0017 a0002c0047 a0002c0049 a0003c0004 a0003c0005 a0003c0009 a0005c0058 a0006c0018 a0011c0052 a0017c0028 a0021c0038 a0022c0064 a0023c0059 a0030c0075 a0032c0056 a0040c0042	a0001c0001t0001 a0001c0001t0012 a0001c0001t0018 others(28): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0018 a0001c0003t0001 a0001c0003t0013 a0001c0007t0001 a0001c0012t0001 a0001c0013t0001 a0001c0048t0001 a0002c0002t0002 a0002c0006t0002 a0002c0011t0002 a0002c0014t0002 a0002c0017t0002 a0002c0047t0002 a0002c0049t0002 a0003c0004t0002 a0003c0004t0003 a0003c0005t0003 a0003c0005t0004 a0003c0009t0003 a0005c0058t0002 a0006c0018t0006 a0011c0052t0005 a0017c0028t0001 a0021c0038t0001 a0022c0064t0003 a0023c0059t0001 a0030c0075t0001 a0032c0056t0008 a0040c0042t0003	a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0111 others(69): Show a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0174 a0001c0001t0012g0115 a0001c0001t0018g0164 a0001c0003t0001g0104 a0001c0003t0001g0108 a0001c0003t0001g0125 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0003t0001g0148 a0001c0003t0001g0151 a0001c0003t0001g0159 a0001c0003t0001g0171 a0001c0003t0013g0102 a0001c0007t0001g0110 a0001c0012t0001g0158 a0001c0012t0001g0163 a0001c0013t0001g0112 a0001c0048t0001g0170 a0002c0002t0002g0103 a0002c0002t0002g0121 a0002c0002t0002g0123 a0002c0002t0002g0127 a0002c0002t0002g0141 a0002c0002t0002g0144 a0002c0006t0002g0120 a0002c0006t0002g0124 a0002c0006t0002g0149 a0002c0011t0002g0101 a0002c0014t0002g0105 a0002c0017t0002g0140 a0002c0017t0002g0161 a0002c0047t0002g0156 a0002c0049t0002g0143 a0003c0004t0002g0155 a0003c0004t0003g0107 a0003c0004t0003g0116 a0003c0004t0003g0126 a0003c0004t0003g0142 a0003c0004t0003g0162 a0003c0004t0003g0166 a0003c0005t0003g0152 a0003c0005t0003g0160 a0003c0005t0003g0168 a0003c0005t0003g0169 a0003c0005t0003g0172 a0003c0005t0003g0173 a0003c0005t0004g0147 a0003c0009t0003g0154 a0005c0058t0002g0118 a0006c0018t0006g0145 a0011c0052t0005g0136 a0017c0028t0001g0139 a0021c0038t0001g0134 a0022c0064t0003g0119 a0023c0059t0001g0157 a0030c0075t0001g0146 a0032c0056t0008g0138 a0040c0042t0003g0137	72	254	0.2835	17	c.-37 others(28): Show c.-3764_-3763insCAGAGATTGCAGTGAGC	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding		3646		chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9875080	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02602.hp1 NA19009.hp1 HG00558.hp1 HG02602.hp1 NA19009.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0015 a0001c0001 a0002c0002 a0007c0015	a0001c0001t0001 a0002c0002t0002 a0007c0015t0003 a0001c0001t0001 a0002c0002t0002 a0007c0015t0003	a0001c0001t0001g0036 a0002c0002t0002g0127 a0007c0015t0003g0044 a0001c0001t0001g0036 a0002c0002t0002g0127 a0007c0015t0003g0044	3	13	0.2308	17	c.317 others(34): Show c.317+1291_317+1307dupAAAAAAAAAAAAAAAAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9897680	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02886.hp2 HG02809.hp1 HG02886.hp2	a0010 a0029 a0010 a0029	a0010c0054 a0029c0055 a0010c0054 a0029c0055	a0010c0054t0002 a0029c0055t0001 a0010c0054t0002 a0029c0055t0001	a0010c0054t0002g0011 a0029c0055t0001g0238 a0010c0054t0002g0011 a0029c0055t0001g0238	2	33	0.0606	17	c.279 others(34): Show c.2791-506_2791-490dupAAAAAAAAAAAAAAAAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM3_chr4_76430229_76788253	76460827	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01981.hp2 NA18974.hp1 HG01928.hp2 HG01981.hp2 NA18974.hp1	a0001 a0028 a0001 a0028	a0001c0001 a0028c0030 a0001c0001 a0028c0030	a0001c0001t0002 a0028c0030t0001 a0001c0001t0002 a0028c0030t0001	a0001c0001t0002g0023 a0001c0001t0002g0026 a0028c0030t0001g0040 a0001c0001t0002g0023 a0001c0001t0002g0026 a0028c0030t0001g0040	3	60	0.0500	17	c.168 others(36): Show c.168+24608_168+24624dupAAAAAAAAAAAAAAAAA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76676944	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA20129.hp2 HG03209.hp2 NA20129.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0009 a0001c0015t0009	a0001c0015t0009g0059 a0001c0015t0009g0111 a0001c0015t0009g0059 a0001c0015t0009g0111	2	127	0.0157	17	c.324 others(36): Show c.324-33205_324-33189dupAAAAAAAAAAAAAAAAA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76727887	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02055.hp1 HG02572.hp1 others(8): Show HG01943.hp1 HG02055.hp1 HG02572.hp1 HG02895.hp2 HG02896.hp1 HG03209.hp2 HG03453.hp1 HG03540.hp2 NA18906.hp2 NA19043.hp1 NA20129.hp2	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0026	a0001c0001 a0001c0015 a0001c0017 others(6): Show a0001c0001 a0001c0015 a0001c0017 a0001c0035 a0001c0036 a0004c0004 a0004c0022 a0006c0005 a0026c0024	a0001c0001t0016 a0001c0015t0009 a0001c0017t0011 others(6): Show a0001c0001t0016 a0001c0015t0009 a0001c0017t0011 a0001c0035t0002 a0001c0036t0025 a0004c0004t0001 a0004c0022t0007 a0006c0005t0004 a0026c0024t0035	a0001c0001t0016g0193 a0001c0015t0009g0059 a0001c0015t0009g0111 others(8): Show a0001c0001t0016g0193 a0001c0015t0009g0059 a0001c0015t0009g0111 a0001c0017t0011g0217 a0001c0017t0011g0218 a0001c0035t0002g0032 a0001c0036t0025g0184 a0004c0004t0001g0131 a0004c0022t0007g0158 a0006c0005t0004g0050 a0026c0024t0035g0183	11	135	0.0815	17	c.456 others(34): Show c.456-2908_456-2907insAAAAAAAAAAAAAAAAA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76735862	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0017 a0017	a0017c0026 a0017c0026	a0017c0026t0001 a0017c0026t0001	a0017c0026t0001g0017 a0017c0026t0001g0017	1	206	0.0049	17	c.588 others(34): Show c.588-2899_588-2898insTATATATATATATATAT	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	4/10			chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76735868	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18974.hp1 HG03139.hp1 NA18974.hp1	a0003 a0028 a0003 a0028	a0003c0002 a0028c0030 a0003c0002 a0028c0030	a0003c0002t0001 a0028c0030t0001 a0003c0002t0001 a0028c0030t0001	a0003c0002t0001g0036 a0028c0030t0001g0040 a0003c0002t0001g0036 a0028c0030t0001g0040	2	151	0.0132	17	c.588 others(34): Show c.588-2892_588-2891insAAATATATATATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM4_chrX_50581796_50819194	50618273	T T	TCCTTCCT others(10): Show TCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0075 a0001c0001t0009g0075	1	171	0.0058	17	c.295 others(36): Show c.2957+9340_2957+9341insGAAGGAAGGAAGGAAGG	SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	5/8			chrX	TogoVar
SHROOM4_chrX_50581796_50819194	50687267	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0027 a0004c0005t0027	a0004c0005t0027g0005 a0004c0005t0027g0005	1	151	0.0066	17	c.269 others(34): Show c.269+8518_269+8519insAAAAAAAAAAAAAAAAA	SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	2/8			chrX	TogoVar
SHTN1_chr10_116876477_117010187	117007932	C C	CGAGAGGC others(10): Show CGAGAGGCGAAGGTTGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0154 a0001c0001t0039g0154	1	290	0.0034	17	c.-28 others(28): Show c.-2870_-2854dupTGCAACCTTCGCCTCTC	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding		2746		chr10	TogoVar
SIAH1_chr16_48355531_48390413	48380928	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02055.hp2 NA19001.hp2 HG01255.hp2 HG02055.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0189 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0189	3	7	0.4286	17	c.-3+ others(32): Show c.-3+4259_-3+4275dupTTTTTTTTTTTTTTTTT	SIAH1	ENSG00000196470.12	transcript	ENST00000394725.3	protein_coding	1/1			chr16	TogoVar
SIAH3_chr13_45772242_45856753	45822520	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01192.hp2 HG01891.hp1 others(1): Show HG01099.hp2 HG01192.hp2 HG01891.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0112	a0001c0001t0002g0236 a0001c0001t0006g0116 a0001c0001t0007g0253 others(1): Show a0001c0001t0002g0236 a0001c0001t0006g0116 a0001c0001t0007g0253 a0001c0001t0112g0356	4	16	0.2500	17	c.135 others(36): Show c.135+28974_135+28975insATATATATATATATATA	SIAH3	ENSG00000215475.5	transcript	ENST00000400405.4	protein_coding	1/1			chr13	TogoVar
SIGIRR_chr11_400716_419999	400989	A A	ACCCCCCG others(10): Show ACCCCCCGCCCCGCTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	235	0.0043	17	c.49 others(28): Show c.4906_*4907insGTGAGCGGGGCGGGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4726		chr11	TogoVar
SIGIRR_chr11_400716_419999	401067	A A	ACCCCCCG others(10): Show ACCCCCCGCCCCGCTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	233	0.0043	17	c.48 others(28): Show c.4828_*4829insGTGAGCGGGGCGGGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4648		chr11	TogoVar
SIGIRR_chr11_400716_419999	401067	A A	ACCCCCGC others(10): Show ACCCCCGCCCCCGCTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	233	0.0043	17	c.48 others(28): Show c.4828_*4829insGTGAGCGGGGGCGGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4648		chr11	TogoVar
SIGIRR_chr11_400716_419999	401073	G G	GCCCCGCT others(10): Show GCCCCGCTCACCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG02257.hp2 HG00609.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0194 a0001c0001t0001g0104 a0001c0001t0001g0194	2	238	0.0084	17	c.48 others(28): Show c.4822_*4823insGCGGGGGGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4642		chr11	TogoVar
SIGIRR_chr11_400716_419999	401474	G G	GGCCCCGC others(10): Show GGCCCCGCTCACACCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	233	0.0043	17	c.44 others(28): Show c.4421_*4422insGCGGGTGTGAGCGGGGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4241		chr11	TogoVar
SIGIRR_chr11_400716_419999	401520	C C	CGCCCCGC others(10): Show CGCCCCGCCTCACCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	206	0.0049	17	c.43 others(28): Show c.4375_*4376insCGGGGGTGAGGCGGGGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4195		chr11	TogoVar
SIGIRR_chr11_400716_419999	401552	G G	GCCCGCTC others(10): Show GCCCGCTCACACCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0062 a0003c0005t0001g0062	1	67	0.0149	17	c.43 others(28): Show c.4343_*4344insGGCCGGGTGTGAGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4163		chr11	TogoVar
SIGIRR_chr11_400716_419999	401566	G G	GGCCCCGC others(10): Show GGCCCCGCTCACACCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0053 a0008c0013t0001g0053	1	216	0.0046	17	c.43 others(28): Show c.4329_*4330insGGGGGTGTGAGCGGGGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4149		chr11	TogoVar
SIGLEC5_chr19_51605960_51635401	51618443	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02055.hp1 HG02109.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0135 a0002c0001t0003g0136 a0002c0001t0003g0135 a0002c0001t0003g0136	2	125	0.0160	17	c.146 others(36): Show c.1465-6038_1465-6022dupTTTTTTTTTTTTTTTTT	SIGLEC5	ENSG00000268500.7	transcript	ENST00000683636.1	protein_coding	8/8			chr19	TogoVar
SIK2_chr11_111597449_111735855	111692350	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18906.hp1 HG03471.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0174 a0001c0001t0009g0166 a0001c0001t0003g0174 a0001c0001t0009g0166	2	8	0.2500	17	c.478 others(34): Show c.478+4210_478+4226dupAAAAAAAAAAAAAAAAA	SIK2	ENSG00000170145.5	transcript	ENST00000304987.4	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
SIK3_chr11_116838402_117103428	116842617	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0014 a0001c0002t0002g0014	1	364	0.0027	17	c.30 others(28): Show c.3025_*3026insAAAAAAAAAAAAAAAAA	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding		784		chr11	TogoVar
SIK3_chr11_116838402_117103428	116855083	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0290 a0001c0002t0002g0290	1	121	0.0083	17	c.365 others(36): Show c.3655+2710_3655+2726dupTTTTTTTTTTTTTTTTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	21/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117013901	G G	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	1	320	0.0031	17	c.274 others(36): Show c.274-56838_274-56837insACACACACACACACACA	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117013915	G G	GAGGGGGT others(10): Show GAGGGGGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	82	0.0122	17	c.274 others(36): Show c.274-56852_274-56851insACACACACACACCCCCT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117013915	G G	GGGAGGGG others(10): Show GGGAGGGGGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	82	0.0122	17	c.274 others(36): Show c.274-56852_274-56851insACACACACACCCCCTCC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117013972	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	71	0.0141	17	c.274 others(36): Show c.274-56925_274-56909dupAAAAAAAAAAAAAAAAA	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117021928	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02083.hp2 HG02055.hp2 HG02083.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0006c0008t0009 a0001c0001t0001 a0006c0008t0009	a0001c0001t0001g0226 a0006c0008t0009g0297 a0001c0001t0001g0226 a0006c0008t0009g0297	2	31	0.0645	17	c.274 others(36): Show c.274-64881_274-64865dupTTTTTTTTTTTTTTTTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIL1_chr5_138941724_139203368	139056706	C C	CCCCCGCC others(10): Show CCCCCGCCCGGCCAGCTG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	198	0.0051	17	c.245 others(34): Show c.245-5661_245-5660insCAGCTGGCCGGGCGGGG	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	3/9			chr5	TogoVar
SIL1_chr5_138941724_139203368	139057314	T T	TTAAAAAA others(10): Show TTAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01074.hp2 HG01934.hp1 others(18): Show HG00735.hp1 HG01074.hp2 HG01934.hp1 HG01975.hp2 HG02071.hp2 HG02132.hp2 HG02258.hp2 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG03017.hp2 HG03654.hp1 HG03710.hp1 HG03831.hp1 NA18945.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18986.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0009 a0001c0001t0001g0047 a0001c0001t0001g0048 others(18): Show a0001c0001t0001g0009 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0129 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0197 a0001c0001t0005g0199	21	120	0.1750	17	c.245 others(34): Show c.245-6269_245-6268insTTTTTTTTTTTTTTTTA	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	3/9			chr5	TogoVar
SIM1_chr6_100380009_100469921	100402565	C C	CTTTTCTC others(10): Show CTTTTCTCTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0249 a0002c0002t0001g0249	1	214	0.0047	17	c.116 others(36): Show c.1168-8677_1168-8676insAAAAAAAAAAGAGAAAA	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SIM2_chr21_36694115_36754917	36737961	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA18987.hp1 NA20752.hp2 HG01123.hp1 NA18987.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0030 a0001c0002t0002 a0001c0002t0030	a0001c0002t0002g0208 a0001c0002t0002g0235 a0001c0002t0030g0043 a0001c0002t0002g0208 a0001c0002t0002g0235 a0001c0002t0030g0043	3	165	0.0182	17	c.851 others(34): Show c.851-3751_851-3735dupAAAAAAAAAAAAAAAAA	SIM2	ENSG00000159263.16	transcript	ENST00000290399.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
SIPA1L1_chr14_71315476_71746209	71356567	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01891.hp1 HG01943.hp1 others(11): Show HG01071.hp1 HG01891.hp1 HG01943.hp1 HG01993.hp1 HG02056.hp1 HG02622.hp2 HG02717.hp1 HG02738.hp2 HG02818.hp2 HG03098.hp2 HG03516.hp2 HG03704.hp2 NA18906.hp2 NA19058.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0008c0013	a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 a0001c0006t0001 a0008c0013t0002	a0001c0001t0001g0010 a0001c0001t0001g0052 a0001c0001t0001g0060 others(11): Show a0001c0001t0001g0010 a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0023 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0056 a0001c0004t0002g0049 a0001c0006t0001g0024 a0008c0013t0002g0045	14	42	0.3333	17	c.-46 others(38): Show c.-465+35390_-465+35406dupAAAAAAAAAAAAAAAAA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71417469	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	21	0.0476	17	c.-46 others(38): Show c.-464-95256_-464-95240dupAAAAAAAAAAAAAAAAA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71502255	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	39	0.0256	17	c.-46 others(38): Show c.-464-10487_-464-10486insAAAAATATATATATATA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71646795	T T	TAAACCTA others(10): Show TAAACCTAGCCTGTTCCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp2 HG03486.hp1 HG01243.hp2 HG02258.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0003 a0001c0002t0005	a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0005g0015 a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0005g0015	3	172	0.0174	17	c.181 others(36): Show c.1819-3539_1819-3538insAACCTAGCCTGTTCCCA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71742353	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00673.hp2 others(6): Show HG00099.hp2 HG00438.hp1 HG00673.hp2 HG02280.hp1 HG06807.hp1 NA18957.hp1 NA18990.hp2 NA19011.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0009 a0001c0001 a0001c0004 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 a0001c0009t0001	a0001c0001t0001g0070 a0001c0001t0001g0080 a0001c0001t0001g0093 others(6): Show a0001c0001t0001g0070 a0001c0001t0001g0080 a0001c0001t0001g0093 a0001c0001t0002g0005 a0001c0001t0002g0055 a0001c0001t0002g0088 a0001c0001t0002g0107 a0001c0004t0002g0050 a0001c0009t0001g0014	9	81	0.1111	17	c.31 others(28): Show c.3192_*3193insAAAAAAAAAAAAAAAAA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding		1145		chr14	TogoVar
SIPA1L2_chr1_232392965_232635133	232455607	T T	TGAGGCGG others(10): Show TGAGGCGGAGCTTGCAGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03239.hp1 HG02258.hp1 HG03239.hp1	a0001 a0001	a0001c0005 a0001c0017 a0001c0005 a0001c0017	a0001c0005t0003 a0001c0017t0002 a0001c0005t0003 a0001c0017t0002	a0001c0005t0003g0287 a0001c0017t0002g0045 a0001c0005t0003g0287 a0001c0017t0002g0045	2	158	0.0127	17	c.309 others(36): Show c.3095+5263_3095+5279dupGCTGCAAGCTCCGCCTC	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	10/22			chr1	TogoVar
SIPA1L3_chr19_37902208_38213369	37937741	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18973.hp1 NA19240.hp1 HG03540.hp2 NA18973.hp1 NA19240.hp1	a0002 a0003 a0022 a0002 a0003 a0022	a0002c0002 a0003c0005 a0022c0022 a0002c0002 a0003c0005 a0022c0022	a0002c0002t0003 a0003c0005t0011 a0022c0022t0001 a0002c0002t0003 a0003c0005t0011 a0022c0022t0001	a0002c0002t0003g0094 a0003c0005t0011g0030 a0022c0022t0001g0029 a0002c0002t0003g0094 a0003c0005t0011g0030 a0022c0022t0001g0029	3	46	0.0652	17	c.-37 others(38): Show c.-379+30390_-379+30406dupAAAAAAAAAAAAAAAAA	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr19	TogoVar

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