Joint Open Genome and Omics Platform (JoGo)

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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
SEPTIN7_chr7_35796057_35912110	35838286	TTCCTTCC others(41): Show TTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01243.hp2 HG02129.hp1 others(30): Show HG00558.hp1 HG01243.hp2 HG02129.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02683.hp1 HG02723.hp2 HG02976.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp2 NA18522.hp1 NA18941.hp2 NA18949.hp1 NA18952.hp1 NA18957.hp1 NA18959.hp1 NA18961.hp2 NA18975.hp1 NA19009.hp1 NA19076.hp1 NA19085.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0018	a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0032 others(28): Show a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0111 a0001c0001t0002g0119 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0134 a0001c0001t0002g0142 a0001c0001t0002g0146 a0001c0001t0003g0100 a0001c0001t0007g0136 a0001c0001t0007g0164 a0001c0001t0011g0005 a0001c0001t0011g0068 a0001c0001t0011g0069 a0001c0001t0011g0070 a0001c0001t0018g0103 a0001c0001t0018g0121	33	332	0.0994	-48	c.169 others(65): Show c.169+5390_169+5437delTTCCTTCCTTCCTTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838290	TTCCTTCC others(41): Show TTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0195 a0001c0001t0039g0195	1	284	0.0035	-48	c.169 others(65): Show c.169+5394_169+5441delTTCCTTCCTTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838294	TTCCTTCC others(41): Show TTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA19077.hp2 NA20129.hp1 HG01891.hp1 NA19077.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0253 a0001c0001t0013g0046 a0001c0001t0013g0049 a0001c0001t0001g0253 a0001c0001t0013g0046 a0001c0001t0013g0049	3	296	0.0101	-48	c.169 others(65): Show c.169+5398_169+5445delTTCCTTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SERPINE2_chr2_223970045_224044286	224042028	CCCTTTTT others(41): Show CCCTTTTTGAGATGCATTTCTCATAGATGTGTACTTCCAATCCACATTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0020 a0001c0003t0007g0020	1	372	0.0027	-48	c.-30 others(59): Show c.-3000_-2953delAAATGTGGATTGGAAGTACACATCTATGAGAAAT GCATCTCAAAAAGG	SERPINE2	ENSG00000135919.14	transcript	ENST00000409304.6	protein_coding		2743		chr2	TogoVar
SETBP1_chr18_44675888_45073510	44868692	GAGAGAGG others(41): Show GAGAGAGGACGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0027 a0001c0001t0009g0027	1	138	0.0072	-48	c.487 others(63): Show c.487-535_487-488delAGAGGACGGAAGGAAGGGAGGAAGGAAGGA AGGAAGGAAGGAAGGAAG	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETD2_chr3_47011436_47169113	47022017	CGTGCCTG others(41): Show CGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp2 HG00621.hp1 others(13): Show HG00099.hp2 HG00597.hp2 HG00621.hp1 HG01496.hp1 HG01943.hp2 HG01975.hp2 HG02148.hp1 NA18943.hp1 NA18952.hp1 NA18953.hp1 NA18967.hp1 NA18972.hp2 NA18981.hp1 NA19000.hp1 NA19005.hp2 NA19054.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0151 a0002c0001t0001g0240 a0002c0001t0001g0241 others(13): Show a0002c0001t0001g0151 a0002c0001t0001g0240 a0002c0001t0001g0241 a0002c0001t0001g0242 a0002c0001t0001g0243 a0002c0001t0001g0244 a0002c0001t0001g0245 a0002c0001t0001g0246 a0002c0001t0001g0247 a0002c0001t0001g0248 a0002c0001t0001g0249 a0002c0001t0001g0250 a0002c0001t0001g0251 a0002c0001t0001g0252 a0002c0001t0001g0253 a0002c0001t0001g0254	16	306	0.0523	-48	c.735 others(67): Show c.7351-2225_7351-2178delAAGCGATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCAC	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	18/20			chr3	TogoVar
SFI1_chr22_31491536_31623588	31592173	CGGAGGGC others(41): Show CGGAGGGCTGACCCCCCCACCTCCCTCCCAGACAGGGCGGCTGGCCGGG	C C	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	320	0.0031	-48	c.154 others(67): Show c.1544+2597_1544+2644delGGAGGGCTGACCCCCCCACCTCCCTC CCAGACAGGGCGGCTGGCCGGG	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	15/32			chr22	TogoVar
SGF29_chr16_28548920_28596790	28564685	GTGTATAT others(41): Show GTGTATATATATGTATATATATACATATATATGTATATATATACATATA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02055.hp1 HG02486.hp2 others(3): Show HG01106.hp1 HG02055.hp1 HG02486.hp2 HG02630.hp1 HG03098.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0285 a0001c0001t0002g0286 others(2): Show a0001c0001t0002g0026 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288	6	330	0.0182	-48	c.-16 others(67): Show c.-16+10590_-16+10637delGTATATATATGTATATATATACATAT ATATGTATATATATACATATAT	SGF29	ENSG00000176476.9	transcript	ENST00000317058.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
SH2D1A_chrX_124341563_124378160	124350241	TTATATAA others(41): Show TTATATAATATATAATATATAAATATATATTATATATAATATTATATAA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01106.hp1 others(34): Show HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02717.hp1 HG02723.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp2 HG04115.hp1 NA18522.hp1 NA18906.hp1 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010	a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0019 others(31): Show a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0060 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0144 a0001c0001t0001g0223 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0002g0120 a0001c0001t0002g0261 a0001c0001t0003g0040 a0001c0001t0003g0044 a0001c0001t0003g0052 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0128 a0001c0001t0004g0046 a0001c0001t0004g0061 a0001c0001t0004g0126 a0001c0001t0004g0130 a0001c0001t0005g0112 a0001c0001t0008g0041 a0001c0001t0010g0063	37	196	0.1888	-48	c.137 others(65): Show c.137+3477_137+3524delTATATAAATATATATTATATATAATATT ATATAATATATAATATATAA	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
SH3BGRL3_chr1_26275086_26286522	26282320	TCCAGGAC others(41): Show TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02809.hp2 HG03486.hp1 HG02572.hp1 HG02809.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0002g0001 a0001c0001t0001g0007 a0001c0001t0002g0001	3	269	0.0112	-48	c.11 others(59): Show c.1198_*1245delCCAGGACAGGGACTGGGGCCGGGACCGGGACCGG GACTGGGGCCGGGA	SH3BGRL3	ENSG00000142669.15	transcript	ENST00000270792.10	protein_coding		799		chr1	TogoVar
SH3BP4_chr2_234947017_235060714	234992705	CGTGGCTC others(41): Show CGTGGCTCTGGGTCTGGGCAGCACCTGGAGATGGATGCATTCCTGCCAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01074.hp2 HG01256.hp1 others(15): Show HG00280.hp2 HG01074.hp2 HG01256.hp1 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG02258.hp2 HG02683.hp1 HG02698.hp1 HG02738.hp2 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03704.hp1 HG04184.hp1 HG04204.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0006 others(3): Show a0001c0002 a0001c0003 a0001c0006 a0001c0022 a0002c0001 a0003c0021	a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 others(5): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0006t0001 a0001c0022t0002 a0002c0001t0002 a0003c0021t0017	a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0264 others(15): Show a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0264 a0001c0003t0001g0105 a0001c0003t0001g0106 a0001c0003t0001g0112 a0001c0003t0001g0125 a0001c0003t0001g0139 a0001c0003t0001g0172 a0001c0003t0002g0205 a0001c0003t0004g0138 a0001c0006t0001g0107 a0001c0006t0001g0204 a0001c0022t0002g0295 a0002c0001t0002g0171 a0002c0001t0002g0173 a0002c0001t0002g0247 a0003c0021t0017g0146	18	346	0.0520	-48	c.-20 others(67): Show c.-206-2563_-206-2516delTGCATTCCTGCCATGTGGCTCTGGGT CTGGGCAGCACCTGGAGATGGA	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235011102	ACTCTCCT others(41): Show ACTCTCCTAGGAGAACCCTTCCTCCCTCTCCTAGGAGAACCCTTCCTCC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01109.hp2 HG01123.hp2 others(37): Show HG00733.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG06807.hp2 NA18522.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0007 a0011 a0012	a0001c0002 a0001c0003 a0001c0004 others(10): Show a0001c0002 a0001c0003 a0001c0004 a0001c0013 a0001c0023 a0001c0024 a0002c0001 a0002c0019 a0003c0010 a0004c0005 a0007c0011 a0011c0018 a0012c0027	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(16): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0016 a0001c0003t0001 a0001c0003t0002 a0001c0004t0008 a0001c0013t0001 a0001c0023t0003 a0001c0024t0001 a0002c0001t0001 a0002c0001t0003 a0002c0001t0005 a0002c0019t0001 a0003c0010t0001 a0004c0005t0002 a0007c0011t0006 a0011c0018t0002 a0012c0027t0002	a0001c0002t0001g0005 a0001c0002t0001g0015 a0001c0002t0001g0037 others(37): Show a0001c0002t0001g0005 a0001c0002t0001g0015 a0001c0002t0001g0037 a0001c0002t0001g0094 a0001c0002t0001g0120 a0001c0002t0001g0280 a0001c0002t0002g0122 a0001c0002t0002g0255 a0001c0002t0002g0257 a0001c0002t0003g0012 a0001c0002t0003g0022 a0001c0002t0003g0027 a0001c0002t0003g0033 a0001c0002t0003g0341 a0001c0002t0016g0039 a0001c0003t0001g0153 a0001c0003t0001g0342 a0001c0003t0002g0096 a0001c0004t0008g0028 a0001c0013t0001g0009 a0001c0023t0003g0024 a0001c0024t0001g0049 a0002c0001t0001g0034 a0002c0001t0001g0048 a0002c0001t0001g0089 a0002c0001t0001g0093 a0002c0001t0001g0261 a0002c0001t0001g0273 a0002c0001t0001g0336 a0002c0001t0003g0023 a0002c0001t0003g0026 a0002c0001t0003g0340 a0002c0001t0005g0035 a0002c0019t0001g0140 a0003c0010t0001g0128 a0004c0005t0002g0038 a0004c0005t0002g0136 a0007c0011t0006g0017 a0011c0018t0002g0339 a0012c0027t0002g0334	40	147	0.2721	-48	c.-13 others(69): Show c.-133+15784_-133+15831delGAGAACCCTTCCTCCCTCTCCTAG GAGAACCCTTCCTCCCTCTCCTAG	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3KBP1_chrX_19528977_19892600	19553930	TATATAAT others(41): Show TATATAATATATAATATATATTAAAATATAATATATAATATATATTAAA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01109.hp1 others(8): Show HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01884.hp2 HG01891.hp1 HG02886.hp2 HG02970.hp1 HG03195.hp2 HG06807.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0058 others(8): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0058 a0001c0001t0001g0182 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203	11	111	0.0991	-48	c.138 others(67): Show c.1385-3895_1385-3848delTTTAATATATATTATATATTATATTT TAATATATATTATATATTATAT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	13/17			chrX	TogoVar
SH3PXD2B_chr5_172328499_172459525	172348646	CTATCTAT others(41): Show CTATCTATCCTATCTATCTATCTATCTATCTATCTATCTATCTATCTAT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0172 a0001c0002t0002g0172	1	278	0.0036	-48	c.101 others(67): Show c.1013-1362_1013-1315delATAGATAGATAGATAGATAGATAGAT AGATAGATAGATAGGATAGATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	10/12			chr5	TogoVar
SH3RF2_chr5_145931578_146068292	146064656	GAGAGAAA others(41): Show GAGAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0196 a0002c0002t0001g0196	1	195	0.0051	-48	c.19 others(59): Show c.1956_*2003delAGAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAA	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding		1365		chr5	TogoVar
SH3RF2_chr5_145931578_146068292	146064687	AAAGAAAG others(41): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0134 a0002c0002t0001g0134	1	268	0.0037	-48	c.19 others(59): Show c.1987_*2034delAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGGAAGG	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding		1396		chr5	TogoVar
SH3RF2_chr5_145931578_146068292	146064691	AAAGAAAG others(41): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0121 a0004c0006t0001g0121	1	266	0.0038	-48	c.19 others(59): Show c.1991_*2038delAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGGAAGGAAGG	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding		1400		chr5	TogoVar
SHISA9_chr16_12896598_13245416	12943306	TGTGTGTG others(41): Show TGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0121 a0001c0001t0034g0121	1	208	0.0048	-48	c.691 others(67): Show c.691+26493_691+26540delTGTGTGTGTGTGTGTGTGTGTGTGAG AGAGAGAGAGAGAGAGAGAGAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHROOM4_chrX_50581796_50819194	50795040	CATATATA others(41): Show CATATATATATGATATATATATGATATATATATATGATATATATATATG	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02572.hp1 HG02630.hp2 others(8): Show HG01361.hp1 HG02572.hp1 HG02630.hp2 HG02647.hp1 HG03041.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03540.hp1 NA19240.hp2 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0002c0002 a0003c0004 others(2): Show a0001c0001 a0002c0002 a0003c0004 a0003c0020 a0009c0024	a0001c0001t0002 a0002c0002t0001 a0003c0004t0005 others(3): Show a0001c0001t0002 a0002c0002t0001 a0003c0004t0005 a0003c0004t0006 a0003c0020t0005 a0009c0024t0002	a0001c0001t0002g0016 a0001c0001t0002g0102 a0001c0001t0002g0167 others(8): Show a0001c0001t0002g0016 a0001c0001t0002g0102 a0001c0001t0002g0167 a0002c0002t0001g0008 a0002c0002t0001g0101 a0003c0004t0005g0125 a0003c0004t0006g0124 a0003c0004t0006g0126 a0003c0004t0006g0128 a0003c0020t0005g0041 a0009c0024t0002g0127	11	160	0.0688	-48	c.117 others(67): Show c.117+18814_117+18861delCATATATATATATCATATATATATAT CATATATATATCATATATATAT	SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	1/8			chrX	TogoVar
SHTN1_chr10_116876477_117010187	116946485	TTTTATAT others(41): Show TTTTATATATAAATATATAAAATGATTTATATATAAATATATAAAATGA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00438.hp2 others(109): Show HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00738.hp1 HG01074.hp2 HG01099.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02040.hp2 HG02055.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp1 HG03942.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18973.hp1 NA18975.hp2 NA18979.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18989.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA18999.hp2 NA19005.hp1 NA19006.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19064.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19078.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19085.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0022 a0001c0001t0025 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0002c0004t0005	a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0105 others(107): Show a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0105 a0001c0001t0001g0116 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0203 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0240 a0001c0001t0003g0243 a0001c0001t0003g0254 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0004g0156 a0001c0001t0004g0160 a0001c0001t0005g0010 a0001c0001t0005g0190 a0001c0001t0005g0191 a0001c0001t0005g0196 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0204 a0001c0001t0005g0247 a0001c0001t0005g0248 a0001c0001t0007g0166 a0001c0001t0007g0167 a0001c0001t0007g0168 a0001c0001t0007g0169 a0001c0001t0007g0220 a0001c0001t0007g0234 a0001c0001t0008g0007 a0001c0001t0008g0164 a0001c0001t0008g0189 a0001c0001t0008g0230 a0001c0001t0008g0232 a0001c0001t0008g0246 a0001c0001t0010g0163 a0001c0001t0010g0165 a0001c0001t0010g0170 a0001c0001t0010g0179 a0001c0001t0010g0218 a0001c0001t0010g0255 a0001c0001t0013g0173 a0001c0001t0013g0174 a0001c0001t0013g0175 a0001c0001t0013g0176 a0001c0001t0013g0242 a0001c0001t0014g0043 a0001c0001t0015g0143 a0001c0001t0015g0145 a0001c0001t0015g0146 a0001c0001t0017g0182 a0001c0001t0017g0183 a0001c0001t0017g0184 a0001c0001t0017g0186 a0001c0001t0022g0187 a0001c0001t0022g0188 a0001c0001t0025g0151 a0001c0001t0029g0237 a0001c0001t0029g0238 a0001c0001t0030g0250 a0001c0001t0030g0251 a0001c0001t0031g0185 a0001c0001t0031g0214 a0001c0001t0032g0008 a0001c0001t0034g0157 a0001c0001t0034g0161 a0001c0001t0035g0283 a0001c0001t0036g0284 a0001c0001t0039g0154 a0001c0001t0046g0217 a0001c0001t0047g0022 a0001c0001t0049g0222 a0001c0001t0050g0147 a0001c0001t0051g0239 a0002c0004t0005g0278	112	134	0.8358	-48	c.617 others(65): Show c.617-1515_617-1468delTCATTTTATATATTTATATATAAATCAT TTTATATATTTATATATAAA	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	7/16			chr10	TogoVar
SIM1_chr6_100380009_100469921	100412591	GAAAGAAA others(41): Show GAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAGGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0227 a0002c0002t0001g0227	1	310	0.0032	-48	c.116 others(67): Show c.1167+8151_1167+8198delTTTCTTTCTTTCTTTCCTTCTTTCTT TCCTTTCTTTCTTTCTTTCTTT	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SIM1_chr6_100380009_100469921	100412595	GAAAGAAA others(41): Show GAAAGAAAGAAAGAAAGGAAAGAAAGAAGGAAAGAAAGAAAGAAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18970.hp1 NA18995.hp2 others(1): Show HG02559.hp1 NA18970.hp1 NA18995.hp2 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0070 a0002c0002t0001 a0001c0001t0070 a0002c0002t0001	a0001c0001t0070g0175 a0002c0002t0001g0045 a0002c0002t0001g0187 others(1): Show a0001c0001t0070g0175 a0002c0002t0001g0045 a0002c0002t0001g0187 a0002c0002t0001g0259	4	305	0.0131	-48	c.116 others(67): Show c.1167+8147_1167+8194delTTCTTTTCTTTCTTTCTTTCCTTCTT TCTTTCCTTTCTTTCTTTCTTT	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SIM1_chr6_100380009_100469921	100412683	AAAAGAAA others(41): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03098.hp2 HG02717.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0068 a0001c0001t0015 a0001c0001t0068	a0001c0001t0015g0219 a0001c0001t0068g0267 a0001c0001t0015g0219 a0001c0001t0068g0267	2	152	0.0132	-48	c.116 others(67): Show c.1167+8059_1167+8106delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTT	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SIPA1L1_chr14_71315476_71746209	71543997	ACACGCAC others(41): Show ACACGCACATGTATATATACACATACGCACATGTATGTATATACACACG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	172	0.0058	-48	c.-30 others(69): Show c.-303+14641_-303+14688delATATACACATACGCACATGTATGT ATATACACACGCACGCACATGTAT	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIRT6_chr19_4169109_4187563	4184107	CCAGTTGG others(41): Show CCAGTTGGCCAACAGGCAGTCCGCTGCCAGCCTGTCTCCTCCCTCGGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	408	0.0025	-48	c.-16 others(59): Show c.-1616_-1569delAGCCGAGGGAGGAGACAGGCTGGCAGCGGACTGC CTGTTGGCCAACTG	SIRT6	ENSG00000077463.15	transcript	ENST00000337491.7	protein_coding		1545		chr19	TogoVar
SLBP_chr4_1687731_1717319	1707225	CAAAAAAA others(41): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01081.hp2 others(6): Show HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp1 HG02148.hp2 HG02300.hp1 HG02698.hp2 HG03654.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0190 others(4): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0190 a0001c0001t0001g0200 a0001c0001t0001g0228 a0001c0001t0001g0239 a0001c0001t0006g0250	9	10	0.9000	-48	c.177 others(65): Show c.177-3573_177-3526delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTT	SLBP	ENSG00000163950.13	transcript	ENST00000489418.6	protein_coding	2/7			chr4	TogoVar
SLC10A6_chr4_86818468_86854384	86842830	CTTTCTTT others(41): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	348	0.0029	-48	c.377 others(65): Show c.377+5861_377+5908delAAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAA	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC12A7_chr5_1045384_1117063	1046224	GGTGTGTG others(41): Show GGTGTGTGAGTGGGTTAGTGTGTGTATGGGTGTGTGAACGAGTGGGTTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0004 a0002c0008t0004	a0002c0008t0004g0080 a0002c0008t0004g0080	1	118	0.0085	-48	c.60 others(59): Show c.6088_*6135delTAACCCACTCGTTCACACACCCATACACACACTA ACCCACTCACACAC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding		4159		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1048050	GAGTGTGT others(41): Show GAGTGTGTTAGTGTGTGAATGAGGGTGTGTGAATGAGGGGGTGTGTGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0093 a0001c0014t0003g0093	1	118	0.0085	-48	c.42 others(59): Show c.4262_*4309delTTCACACACCCCCTCATTCACACACCCTCATTCA CACACTAACACACT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding		2333		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1063668	CCACAGCC others(41): Show CCACAGCCCTCCCGATCTCCACTTCCCCCTCCACCCCCACCTCACGAGG	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG04204.hp2 HG03453.hp1 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0015 a0001c0001 a0002c0015	a0001c0001t0001 a0002c0015t0001 a0001c0001t0001 a0002c0015t0001	a0001c0001t0001g0095 a0002c0015t0001g0027 a0001c0001t0001g0095 a0002c0015t0001g0027	2	118	0.0169	-48	c.273 others(65): Show c.2739+128_2739+175delCCTCGTGAGGTGGGGGTGGAGGGGGAAG TGGAGATCGGGAGGGCTGTG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	20/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1096759	GGAAGGAA others(41): Show GGAAGGAAAGGAGGGAGGGGGGGAGGGAGGGAAGGAAGGAGGGAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0009 a0006c0019t0009	a0006c0019t0009g0013 a0006c0019t0009g0013	1	118	0.0085	-48	c.125 others(65): Show c.125-2559_125-2512delTTCCCTCCCTCCTTCCTTCCCTCCCTCC CCCCCTCCCTCCTTTCCTTC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1105155	TCAAAAGG others(41): Show TCAAAAGGACCCTCCCCGCAGGGATGAGGTCCTGCAGTCACCCACCAGC	T T	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02040.hp1 HG02071.hp1 others(4): Show HG01993.hp1 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02273.hp1 NA18990.hp2 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 others(2): Show a0001c0001 a0002c0002 a0002c0004 a0002c0008 a0002c0022	a0001c0001t0001 a0002c0002t0002 a0002c0004t0001 others(2): Show a0001c0001t0001 a0002c0002t0002 a0002c0004t0001 a0002c0008t0002 a0002c0022t0016	a0001c0001t0001g0066 a0002c0002t0002g0067 a0002c0002t0002g0069 others(4): Show a0001c0001t0001g0066 a0002c0002t0002g0067 a0002c0002t0002g0069 a0002c0002t0002g0083 a0002c0004t0001g0070 a0002c0008t0002g0068 a0002c0022t0016g0065	7	118	0.0593	-48	c.124 others(65): Show c.124+6665_124+6712delGCTGGTGGGTGACTGCAGGACCTCATCC CTGCGGGGAGGGTCCTTTTG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC16A9_chr10_59645764_59714850	59681741	GATGTATA others(41): Show GATGTATATGTATATGTATATGATGTATATGTATATGTATATGATGTAT	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01361.hp1 HG01255.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0035 a0001c0001t0004g0036	2	187	0.0107	-48	c.196 others(65): Show c.196+2307_196+2354delATACATCATATACATATACATATACATC ATATACATATACATATACAT	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	2/5			chr10	TogoVar
SLC23A2_chr20_4847358_5006510	5004237	ACTGGTTT others(41): Show ACTGGTTTCTTATCTGAGTTCTCTCATTTTGCTACCAGAAACTTCAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0069 a0001c0002t0002g0069	1	202	0.0050	-48	c.-31 others(59): Show c.-3161_-3114delGTTTGAAGTTTCTGGTAGCAAAATGAGAGAACTC AGATAAGAAACCAG	SLC23A2	ENSG00000089057.15	transcript	ENST00000338244.6	protein_coding		2728		chr20	TogoVar
SLC23A3_chr2_219156465_219175029	219159528	TATATATA others(41): Show TATATATATGCATATATATATATGCATATATATATGCATATATATATGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA18995.hp2 NA21309.hp1 NA18963.hp2 NA18995.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0047 a0001c0001t0003g0007 a0001c0001t0001g0047 a0001c0001t0003g0007	3	366	0.0082	-48	c.23 others(59): Show c.2333_*2380delGCATATATATATGCATATATATATGCATATATAT ATATGCATATATAT	SLC23A3	ENSG00000213901.11	transcript	ENST00000409878.8	protein_coding		1936		chr2	TogoVar
SLC24A3_chr20_19207642_19727926	19678431	ACCTCCCG others(41): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTC	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01167.hp2 HG01891.hp2 others(17): Show HG01070.hp1 HG01167.hp2 HG01891.hp2 HG01928.hp2 HG02148.hp2 HG02615.hp1 HG02630.hp1 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG03041.hp1 HG03130.hp1 HG03209.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 NA19030.hp1 NA19043.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0023 a0002c0002 a0002c0005 a0002c0006 a0002c0007 a0005c0014	a0001c0001t0003 a0001c0003t0002 a0001c0004t0001 others(8): Show a0001c0001t0003 a0001c0003t0002 a0001c0004t0001 a0001c0008t0003 a0001c0023t0001 a0002c0002t0003 a0002c0005t0001 a0002c0005t0006 a0002c0006t0002 a0002c0007t0002 a0005c0014t0001	a0001c0001t0003g0090 a0001c0003t0002g0018 a0001c0003t0002g0077 others(17): Show a0001c0001t0003g0090 a0001c0003t0002g0018 a0001c0003t0002g0077 a0001c0004t0001g0043 a0001c0004t0001g0084 a0001c0004t0001g0093 a0001c0004t0001g0105 a0001c0008t0003g0060 a0001c0023t0001g0149 a0002c0002t0003g0027 a0002c0002t0003g0028 a0002c0002t0003g0097 a0002c0002t0003g0124 a0002c0005t0001g0063 a0002c0005t0001g0071 a0002c0005t0001g0092 a0002c0005t0006g0065 a0002c0006t0002g0054 a0002c0007t0002g0135 a0005c0014t0001g0019	20	160	0.1250	-48	c.768 others(65): Show c.768-3382_768-3335delCCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCA	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC24A4_chr14_92318165_92506481	92474682	CACATATA others(41): Show CACATATATATGTATATATACGTGTGTGTATATATATATACACACACGT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0170 a0001c0001t0003g0170	1	280	0.0036	-48	c.125 others(67): Show c.1256-7996_1256-7949delCATATATATGTATATATACGTGTGTG TATATATATATACACACACGTA	SLC24A4	ENSG00000140090.18	transcript	ENST00000532405.6	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr14	TogoVar
SLC25A16_chr10_68472998_68532523	68529683	TGTATATA others(41): Show TGTATATATTATATATACATATATGTATATATTATATATACATATATGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0218 a0001c0001t0058g0218	1	310	0.0032	-48	c.-23 others(59): Show c.-2356_-2309delGCATATATGTATATATAATATATACATATATGTA TATATAATATATAC	SLC25A16	ENSG00000122912.15	transcript	ENST00000609923.6	protein_coding		2161		chr10	TogoVar
SLC25A21_chr14_36672921_37177606	37098738	TAGATAGA others(41): Show TAGATAGATAGACAGACAGACAGACAGACAGACAGACAGACAGACAGAC	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA19000.hp1 HG02040.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0081 a0001c0002t0002g0106 a0001c0001t0002g0081 a0001c0002t0002g0106	2	164	0.0122	-48	c.70+ others(65): Show c.70+73495_70+73542delGTCTGTCTGTCTGTCTGTCTGTCTGTCT GTCTGTCTGTCTATCTATCT	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	1/9			chr14	TogoVar
SLC25A41_chr19_6421037_6438763	6429108	TAATATAT others(41): Show TAATATATATATTATATATATGTTATATATATATATAATATATATATTA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp1 HG02622.hp2 others(2): Show HG01891.hp2 HG02280.hp1 HG02622.hp2 HG03041.hp2 HG03098.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0008 a0001c0001 a0010c0008	a0001c0001t0004 a0010c0008t0004 a0001c0001t0004 a0010c0008t0004	a0001c0001t0004g0017 a0001c0001t0004g0230 a0010c0008t0004g0174 a0001c0001t0004g0017 a0001c0001t0004g0230 a0010c0008t0004g0174	5	348	0.0144	-48	c.624 others(63): Show c.624+568_624+615delTAATATATATATTATATATATATATAACAT ATATATAATATATATATT	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC26A11_chr17_80215427_80258500	80254261	CTTCCCTT others(41): Show CTTCCCTTCCTTTCCTTCCTTCCTTCCTTTCTTTCCTTCCTTCCTTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	364	0.0027	-48	c.15 others(59): Show c.1546_*1593delTTCCCTTCCTTTCCTTCCTTCCTTCCTTTCTTTC CTTCCTTCCTTCCT	SLC26A11	ENSG00000181045.15	transcript	ENST00000361193.8	protein_coding		762		chr17	TogoVar
SLC28A1_chr15_84879662_84950798	84889677	TTTCCTTC others(41): Show TTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01891.hp2 NA18950.hp1 others(3): Show HG00621.hp1 HG01891.hp2 NA18950.hp1 NA18961.hp1 NA18965.hp1 NA19091.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0007 a0020	a0001c0002 a0002c0005 a0004c0003 others(3): Show a0001c0002 a0002c0005 a0004c0003 a0007c0010 a0007c0052 a0020c0045	a0001c0002t0001 a0002c0005t0001 a0004c0003t0002 others(3): Show a0001c0002t0001 a0002c0005t0001 a0004c0003t0002 a0007c0010t0007 a0007c0052t0001 a0020c0045t0001	a0001c0002t0001g0087 a0002c0005t0001g0089 a0004c0003t0002g0210 others(3): Show a0001c0002t0001g0087 a0002c0005t0001g0089 a0004c0003t0002g0210 a0007c0010t0007g0086 a0007c0052t0001g0085 a0020c0045t0001g0169	6	273	0.0220	-48	c.186 others(63): Show c.186-750_186-703delTTTCCTTCCTTCCTTCTTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTC	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84906537	TTTCTTTC others(41): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0003 a0006c0011t0003	a0006c0011t0003g0302 a0006c0011t0003g0302	1	373	0.0027	-48	c.717 others(63): Show c.717+886_717+933delTTCTTTCTTTCTTTCTTTCTTTCTTTCTCT TTCTTTCTTCCTTCCTTC	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	8/18			chr15	TogoVar
SLC2A12_chr6_133982581_134057624	134032420	ATATATTT others(41): Show ATATATTTATATATATATATATATATATAAATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp2 HG02258.hp2 others(6): Show HG01074.hp1 HG01099.hp2 HG02258.hp2 HG02486.hp2 HG02965.hp1 HG03130.hp1 HG03195.hp2 HG03486.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0023 a0001c0001t0057 a0001c0009t0027	a0001c0001t0001g0243 a0001c0001t0003g0229 a0001c0001t0005g0090 others(5): Show a0001c0001t0001g0243 a0001c0001t0003g0229 a0001c0001t0005g0090 a0001c0001t0005g0258 a0001c0001t0006g0331 a0001c0001t0023g0002 a0001c0001t0057g0204 a0001c0009t0027g0257	9	336	0.0268	-48	c.104 others(65): Show c.104-2747_104-2700delAAAATATATATATATATATTTATATATA TATATATATATATAAATATA	SLC2A12	ENSG00000146411.6	transcript	ENST00000275230.6	protein_coding	1/4			chr6	TogoVar
SLC2A13_chr12_39750025_40111081	39820717	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18943.hp2 NA18975.hp2 others(1): Show HG00621.hp2 NA18943.hp2 NA18975.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0161 a0001c0001t0002g0152 a0001c0001t0003g0157 others(1): Show a0001c0001t0001g0161 a0001c0001t0002g0152 a0001c0001t0003g0157 a0001c0001t0003g0158	4	7	0.5714	-48	c.144 others(67): Show c.1445+9338_1445+9385delTATATATATATATATATATATATATA TATATATATATATATATATATA	SLC2A13	ENSG00000151229.13	transcript	ENST00000280871.9	protein_coding	7/9			chr12	TogoVar
SLC30A4_chr15_45474606_45527755	45477648	CATATATA others(41): Show CATATATATAATATATATAATACATATATATAATATATATATAATACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01167.hp2 HG01169.hp1 others(24): Show HG00642.hp1 HG01167.hp2 HG01169.hp1 HG01884.hp2 HG02257.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03540.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0009 a0001c0003t0010 others(3): Show a0001c0003t0004 a0001c0003t0009 a0001c0003t0010 a0001c0003t0022 a0001c0003t0045 a0001c0003t0046	a0001c0003t0004g0002 a0001c0003t0004g0005 a0001c0003t0004g0008 others(18): Show a0001c0003t0004g0002 a0001c0003t0004g0005 a0001c0003t0004g0008 a0001c0003t0004g0022 a0001c0003t0004g0026 a0001c0003t0004g0033 a0001c0003t0004g0040 a0001c0003t0004g0041 a0001c0003t0004g0042 a0001c0003t0004g0043 a0001c0003t0009g0024 a0001c0003t0009g0025 a0001c0003t0009g0039 a0001c0003t0010g0030 a0001c0003t0010g0031 a0001c0003t0010g0036 a0001c0003t0010g0038 a0001c0003t0022g0034 a0001c0003t0022g0035 a0001c0003t0045g0044 a0001c0003t0046g0032	27	314	0.0860	-48	c.74 others(59): Show c.7467_*7514delATGTATTATATATATATTATATATATGTATTATA TATATTATATATAT	SLC30A4	ENSG00000104154.7	transcript	ENST00000261867.5	protein_coding		1957		chr15	TogoVar
SLC30A4_chr15_45474606_45527755	45477656	TAATATAT others(41): Show TAATATATATAATACATATATATAATATATATATAATACATATATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02109.hp2 HG02451.hp1 others(6): Show HG01243.hp2 HG02109.hp2 HG02451.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG06807.hp2 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0012 a0001c0001t0017 others(2): Show a0001c0001t0008 a0001c0001t0012 a0001c0001t0017 a0001c0001t0019 a0001c0001t0023	a0001c0001t0008g0277 a0001c0001t0008g0278 a0001c0001t0012g0280 others(6): Show a0001c0001t0008g0277 a0001c0001t0008g0278 a0001c0001t0012g0280 a0001c0001t0012g0281 a0001c0001t0017g0082 a0001c0001t0017g0083 a0001c0001t0019g0282 a0001c0001t0019g0283 a0001c0001t0023g0017	9	311	0.0289	-48	c.74 others(59): Show c.7459_*7506delTTATATATATGTATTATATATATATTATATATAT GTATTATATATATT	SLC30A4	ENSG00000104154.7	transcript	ENST00000261867.5	protein_coding		1949		chr15	TogoVar
SLC38A9_chr5_55620848_55717324	55696104	GGCTGGCC others(41): Show GGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACCGGGC	G G	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	344	0.0029	-48	c.113 others(65): Show c.113+1694_113+1741delGCCCGGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCACCCGGCCAGC	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC38A9_chr5_55620848_55717324	55696126	CCCCCCCA others(41): Show CCCCCCCACCTCCCTCCCGGACCGGGCGGCTGACCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	348	0.0029	-48	c.113 others(65): Show c.113+1672_113+1719delTCAGCCCCCCGCCCGGTCAGCCGCCCGG TCCGGGAGGGAGGTGGGGGG	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC38A9_chr5_55620848_55717324	55696275	GGGCGGCT others(41): Show GGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02630.hp1 HG02723.hp1 others(2): Show HG01167.hp2 HG02630.hp1 HG02723.hp1 HG03139.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0093 others(2): Show a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0093 a0001c0001t0001g0207 a0001c0001t0003g0063	5	348	0.0144	-48	c.113 others(65): Show c.113+1523_113+1570delAGTCCGGGAGGGAGGTGGGGGGATCAGC CCCCCGCCCGGCCAGCCGCC	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar

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