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	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
SPDYA_chr2_28805834_28855610	28819843	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG02074.hp2 others(4): Show HG00438.hp1 HG00597.hp1 HG02074.hp2 HG02132.hp2 NA18939.hp2 NA19074.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0039 a0001c0001t0001g0083 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0039 a0001c0001t0001g0083 a0001c0001t0001g0105 a0001c0001t0001g0127 a0001c0001t0001g0141	7	314	0.0223	-34	c.294 others(49): Show c.294+739_294+772delAAAAAATATATATATATATATATATATATA TATA		SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819845	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01975.hp2 NA18982.hp1 HG01975.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0108 a0001c0001t0001g0005 a0001c0001t0001g0108	2	307	0.0065	-34	c.294 others(49): Show c.294+741_294+774delAAAATATATATATATATATATATATATATA TATA		SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819849	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02055.hp1 NA19079.hp1 HG00323.hp2 HG02055.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0068 a0001c0001t0001g0140 a0001c0001t0001g0043 a0001c0001t0001g0068 a0001c0001t0001g0140	3	284	0.0106	-34	c.294 others(49): Show c.294+764_294+797delATATATATATATATATATATATATATATAT ATAT		SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYE10_chr7_73099008_73160431	73156130	ACACACAC others(27): Show ACACACACACTCTCTCTCTCTCTCTCTCTCTCTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	212	0.0047	-34	c.-14 others(45): Show c.-1481_-1448delACAGAGAGAGAGAGAGAGAGAGAGAGTGTGTGTG		SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding					700		chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73156133	CACACACT others(27): Show CACACACTCTCTCTCTCTCTCTCTCTCTCTGTCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG02040.hp1 HG02148.hp2 HG00738.hp1 HG02040.hp1 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0094 a0001c0002t0001g0104 a0001c0002t0001g0083 a0001c0002t0001g0094 a0001c0002t0001g0104	3	215	0.0140	-34	c.-14 others(45): Show c.-1484_-1451delCAGACAGAGAGAGAGAGAGAGAGAGAGAGTGTGT		SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding					703		chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73156134	ACACACTC others(27): Show ACACACTCTCTCTCTCTCTCTCTCTCTCTGTCTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 NA18954.hp1 NA19062.hp1 HG00423.hp1 NA18954.hp1 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0097 a0001c0002t0001g0112 a0001c0002t0001g0114	3	172	0.0174	-34	c.-14 others(45): Show c.-1485_-1452delACAGACAGAGAGAGAGAGAGAGAGAGAGAGTGTG		SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding					704		chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73156138	ACTCTCTC others(27): Show ACTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02145.hp2 others(8): Show HG01884.hp1 HG02109.hp1 HG02145.hp2 HG02451.hp2 HG02486.hp2 HG02622.hp2 HG02809.hp1 HG02809.hp2 HG02965.hp1 HG02976.hp1 HG03195.hp1	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0003 a0003c0006 a0005c0007 a0002c0003 a0003c0006 a0005c0007	a0002c0003t0004 a0003c0006t0005 a0003c0006t0008 others(2): Show a0002c0003t0004 a0003c0006t0005 a0003c0006t0008 a0003c0006t0012 a0005c0007t0009	a0002c0003t0004g0009 a0003c0006t0005g0121 a0003c0006t0005g0129 others(8): Show a0002c0003t0004g0009 a0003c0006t0005g0121 a0003c0006t0005g0129 a0003c0006t0005g0130 a0003c0006t0005g0132 a0003c0006t0008g0125 a0003c0006t0008g0126 a0003c0006t0012g0123 a0003c0006t0012g0135 a0005c0007t0009g0210 a0005c0007t0009g0211	11	170	0.0647	-34	c.-14 others(45): Show c.-1489_-1456delAGAGACAGACAGAGAGAGAGAGAGAGAGAGAGAG		SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding					708		chr7	TogoVar
SPICE1_chr3_113437718_113520156	113449293	GGCACATA others(27): Show GGCACATAGTACATGTTCGCACATAGTACATGTTC	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02055.hp1 HG02717.hp1 others(4): Show HG00738.hp2 HG02055.hp1 HG02717.hp1 HG03098.hp1 HG03195.hp2 HG06807.hp1 NA19043.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0008c0018 a0001c0002 a0008c0018	a0001c0002t0003 a0008c0018t0003 a0001c0002t0003 a0008c0018t0003	a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0247 others(4): Show a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0003g0253 a0001c0002t0003g0255 a0001c0002t0003g0268 a0008c0018t0003g0254	7	326	0.0215	-34	c.232 others(53): Show c.2323+1009_2323+1042delGAACATGTACTATGTGCGAACATGTA CTATGTGC		SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	15/17						chr3	TogoVar
SPIC_chr12_101470336_101491997	101479227	AGAAAGAA others(27): Show AGAAAGAAAGAAAGAAAAAGAAAGAAAGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	374	0.0027	-34	c.98- others(47): Show c.98-338_98-305delAAGAAAGAAAGAAGGAAGGAAAGAAAGAAAGA AA		SPIC	ENSG00000166211.8	transcript	ENST00000551346.2	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr12	TogoVar
SPIDR_chr8_47255938_47741306	47588026	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03486.hp1 HG02615.hp1 HG03486.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0122 a0004c0004t0002g0123 a0004c0004t0002g0122 a0004c0004t0002g0123	2	40	0.0500	-34	c.109 others(53): Show c.1098-7757_1098-7724delTATATATATATATATATATATATATA TATATATA		SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr8	TogoVar
SPOCD1_chr1_31785422_31821022	31814789	GGGCTTCT others(27): Show GGGCTTCTTCTGTCACACCCTGGAGAACTCATTCC	G G	frameshift_variant frameshift_variant	HIGH	HG04204.hp2 HG04204.hp2	a0018 a0018	a0018c0011 a0018c0011	a0018c0011t0001 a0018c0011t0001	a0018c0011t0001g0072 a0018c0011t0001g0072	1	258	0.0039	-34	c.511 others(41): Show c.511_544delGGAATGAGTTCTCCAGGGTGTGACAGAAGAAGCC	p.Gly others(5): Show p.Gly171fs	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/16	645/3933	511/3651	171/1216			chr1	TogoVar
SPOCK1_chr5_136970298_137504326	137143423	AGACTCCA others(27): Show AGACTCCAAGGCAGAGTAGCTTCTGGAACAGCACG	A A	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	152	0.0066	-34	c.233 others(51): Show c.233-2763_233-2730delCGTGCTGTTCCAGAAGCTACTCTGCCTT GGAGTC		SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	3/10						chr5	TogoVar
SPOCK3_chr4_166728384_167239494	167205184	GATATTTT others(27): Show GATATTTTATATCTATAATATATATTATATATTAT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	142	0.0070	-34	c.189 others(53): Show c.189+28767_189+28800delATAATATATAATATATATTATAGATA TAAAATAT		SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10						chr4	TogoVar
SPRY3_chrX_155607586_155787459	155638293	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02896.hp2 HG02897.hp2 others(5): Show HG02630.hp2 HG02896.hp2 HG02897.hp2 HG03195.hp1 HG03209.hp1 HG03471.hp1 HG03540.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0007 a0001c0001t0022 others(4): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0022 a0001c0001t0043 a0001c0001t0075 a0001c0001t0083 a0001c0002t0054	a0001c0001t0003g0105 a0001c0001t0007g0113 a0001c0001t0022g0107 others(5): Show a0001c0001t0003g0105 a0001c0001t0007g0113 a0001c0001t0022g0107 a0001c0001t0022g0110 a0001c0001t0043g0111 a0001c0001t0075g0116 a0001c0001t0083g0109 a0001c0002t0054g0117	8	16	0.5000	-34	c.-28 others(55): Show c.-282+25689_-282+25722delATATATATATATATATATATATAT ATATATATAT		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRYD3_chr12_53059316_53084390	53083921	ATAAAAAA others(27): Show ATAAAAAATTAGCCAGGTGTGATGGCACACACCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	402	0.0025	-34	c.-46 others(45): Show c.-4622_-4589delCAGGTGTGTGCCATCACACCTGGCTAATTTTTTA		SPRYD3	ENSG00000167778.9	transcript	ENST00000301463.9	protein_coding					4532		chr12	TogoVar
SPSB4_chr3_141046347_141153611	141151345	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG02055.hp1 HG02055.hp2 others(10): Show HG00735.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02615.hp1 HG02818.hp1 HG02922.hp1 HG03098.hp1 HG03209.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0019 a0001c0001t0020 others(4): Show a0001c0001t0009 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0050 a0001c0001t0053 a0001c0002t0012	a0001c0001t0009g0152 a0001c0001t0019g0055 a0001c0001t0020g0146 others(10): Show a0001c0001t0009g0152 a0001c0001t0019g0055 a0001c0001t0020g0146 a0001c0001t0025g0145 a0001c0001t0025g0147 a0001c0001t0050g0231 a0001c0001t0053g0200 a0001c0002t0012g0070 a0001c0002t0012g0075 a0001c0002t0012g0076 a0001c0002t0012g0077 a0001c0002t0012g0078 a0001c0002t0012g0242	13	252	0.0516	-34	c.40 others(45): Show c.4077_*4110delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGC		SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding					2735		chr3	TogoVar
SPTAN1_chr9_128547587_128638662	128638499	GAGCGAGA others(27): Show GAGCGAGACTCCATCTCAAAAAAAAAAAATGCATT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02723.hp1 HG02886.hp2 others(1): Show HG02109.hp1 HG02723.hp1 HG02886.hp2 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0015 a0001c0005t0001g0016 a0001c0005t0001g0018 others(1): Show a0001c0005t0001g0015 a0001c0005t0001g0016 a0001c0005t0001g0018 a0001c0005t0001g0019	4	310	0.0129	-34	c.51 others(45): Show c.5166_*5199delAGCGAGACTCCATCTCAAAAAAAAAAAATGCATT		SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding					4838		chr9	TogoVar
SPTSSB_chr3_161339798_161376517	161369286	TTTTCTTT others(27): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18954.hp1 NA19000.hp1 HG04184.hp1 NA18954.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0165 a0001c0001t0001g0174 a0001c0001t0001g0045 a0001c0001t0001g0165 a0001c0001t0001g0174	3	370	0.0081	-34	c.-12 others(53): Show c.-126+2115_-126+2148delGAAAGAGAAAGAAAGAAAGAAAGAAA GAAAGAAA		SPTSSB	ENSG00000196542.9	transcript	ENST00000620149.2	protein_coding	1/2						chr3	TogoVar
SRBD1_chr2_45383680_45616267	45615258	ATTTACTG others(27): Show ATTTACTGCAAAATGAAAGAGACTAGTAAACAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0114 a0003c0003t0001g0114	1	356	0.0028	-34	c.-40 others(45): Show c.-4074_-4041delCTCTGTTTACTAGTCTCTTTCATTTTGCAGTAAA		SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding					3992		chr2	TogoVar
SRGAP2B_chr1_144882288_145100328	144883835	AAAGCCGA others(27): Show AAAGCCGAGGCGGGGTGGGGGGGGGGGAGGGGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01109.hp1 HG01346.hp1 others(7): Show HG01099.hp1 HG01109.hp1 HG01346.hp1 HG01952.hp1 HG02602.hp1 HG03492.hp2 HG03669.hp1 HG03831.hp1 NA18946.hp2 NA20805.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0009 a0001c0001 a0009c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0015 a0009c0009t0003	a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0052 others(7): Show a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0002g0002 a0001c0001t0002g0035 a0001c0001t0003g0016 a0001c0001t0003g0022 a0001c0001t0009g0046 a0001c0001t0015g0010 a0009c0009t0003g0014	10	30	0.3333	-34	c.82 others(45): Show c.8291_*8324delCCCCCCCTCCCCCCCCCCCACCCCGCCTCGGCTT		SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding					3452		chr1	TogoVar
SRGAP2B_chr1_144882288_145100328	144883932	AAAGCCGA others(27): Show AAAGCCGAGGCGGGGTGGGGGGGGGGGAGGGGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG02615.hp2 HG01346.hp2 HG02615.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0013 a0007c0007t0018 a0001c0001t0013 a0007c0007t0018	a0001c0001t0013g0025 a0007c0007t0018g0001 a0001c0001t0013g0025 a0007c0007t0018g0001	2	54	0.0370	-34	c.81 others(45): Show c.8194_*8227delCCCCCCCTCCCCCCCCCCCACCCCGCCTCGGCTT		SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding					3355		chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121239178	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0098 a0002c0002t0012g0098	1	215	0.0047	-34	c.68- others(51): Show c.68-45608_68-45575delTATATATATATATATATATATATATATA TATATA		SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121239199	TATATATA others(27): Show TATATATATATATATATATATATATATATACTATA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0022 a0003c0004t0022	a0003c0004t0022g0027 a0003c0004t0022g0027	1	272	0.0037	-34	c.68- others(51): Show c.68-45603_68-45570delATATATATATATATATATATATATATAT ACTATA		SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9						chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121396102	CCCCCGCC others(27): Show CCCCCGCCGCTTTTTGCACCCCGCCGCTTTTTGCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01884.hp1 HG02055.hp1 others(17): Show HG00140.hp1 HG01884.hp1 HG02055.hp1 HG02109.hp2 HG02280.hp2 HG02572.hp2 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02970.hp1 HG02976.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03491.hp2 HG03540.hp2 NA18522.hp2 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0003t0004 a0001c0003t0019 others(5): Show a0001c0001t0001 a0001c0003t0004 a0001c0003t0019 a0001c0003t0053 a0001c0003t0055 a0002c0002t0002 a0002c0002t0009 a0003c0004t0018	a0001c0001t0001g0224 a0001c0001t0001g0245 a0001c0003t0004g0254 others(17): Show a0001c0001t0001g0224 a0001c0001t0001g0245 a0001c0003t0004g0254 a0001c0003t0004g0257 a0001c0003t0004g0258 a0001c0003t0004g0259 a0001c0003t0004g0260 a0001c0003t0004g0263 a0001c0003t0004g0264 a0001c0003t0004g0265 a0001c0003t0004g0266 a0001c0003t0004g0267 a0001c0003t0019g0255 a0001c0003t0019g0268 a0001c0003t0053g0261 a0001c0003t0055g0262 a0002c0002t0002g0051 a0002c0002t0009g0271 a0003c0004t0018g0001 a0003c0004t0018g0002	20	117	0.1709	-34	c.82 others(45): Show c.8248_*8281delCCCCGCCGCTTTTTGCACCCCGCCGCTTTTTGCA		SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding					3229		chr1	TogoVar
SRPK1_chr6_35827966_35926098	35890818	CTGATAGA others(27): Show CTGATAGATCAAACATCCAAACGAGAAATTGCAAA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03139.hp2 HG02647.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0005g0009 a0001c0001t0005g0010	2	340	0.0059	-34	c.193 others(47): Show c.193+43_193+76delTTTGCAATTTCTCGTTTGGATGTTTGATCTAT CA		SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	3/15						chr6	TogoVar
SRPK1_chr6_35827966_35926098	35915997	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00639.hp2 others(42): Show HG00323.hp1 HG00558.hp1 HG00639.hp2 HG00642.hp2 HG01069.hp1 HG01071.hp2 HG01167.hp1 HG01516.hp1 HG01517.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02074.hp1 HG02080.hp2 HG02148.hp1 HG02559.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02922.hp2 HG02965.hp2 HG03491.hp2 HG03492.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp2 NA18944.hp2 NA18945.hp2 NA18952.hp2 NA18959.hp1 NA18965.hp1 NA18971.hp2 NA18977.hp2 NA18994.hp1 NA18998.hp2 NA19004.hp1 NA19009.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19070.hp1 NA19086.hp1 NA20752.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0001c0001t0010 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0013 a0005c0007t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0072 others(40): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0110 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0164 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0228 a0001c0001t0010g0145 a0001c0001t0013g0206 a0005c0007t0001g0118	45	205	0.2195	-34	c.74+ others(49): Show c.74+4437_74+4470delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT		SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	2/15						chr6	TogoVar
SRPK2_chr7_105111374_105393921	105170841	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0240	1	271	0.0037	-34	c.230 others(51): Show c.230-1610_230-1577delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT		SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	3/15						chr7	TogoVar
SRRM3_chr7_76196896_76292287	76223843	TTCCCTTC others(27): Show TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC	T T	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0313 a0002c0002t0003g0313	1	322	0.0031	-34	c.-39 others(53): Show c.-39-11183_-39-11150delCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCT		SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
SSBP2_chr5_81407804_81756097	81488026	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0153 a0001c0001t0029g0153	1	204	0.0049	-34	c.432 others(51): Show c.432+1190_432+1223delTTATATATATATATATATATATATATAT ATATAT		SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	6/16						chr5	TogoVar
SSBP3_chr1_54220432_54411394	54409438	GCACACAG others(27): Show GCACACAGCGCAGGCTCAATACCTGTGTATGTTAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0160 a0001c0001t0006g0160	1	278	0.0036	-34	c.-34 others(45): Show c.-3464_-3431delTTAACATACACAGGTATTGAGCCTGCGCTGTGTG		SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding					3045		chr1	TogoVar
SSTR1_chr14_38202904_38218067	38215067	CAAAAATG others(27): Show CAAAAATGTTGAATGTGTAATTTTGGCCTGAGAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	454	0.0022	-34	c.45 others(45): Show c.4503_*4536delAAAAATGTTGAATGTGTAATTTTGGCCTGAGAAA		SSTR1	ENSG00000139874.6	transcript	ENST00000267377.3	protein_coding					2001		chr14	TogoVar
SSTR2_chr17_73160010_73181633	73168957	GGGTCAAA others(27): Show GGGTCAAAGTATGTGCTTTTTGAAGCCACAGCCCT	G G	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0107 a0001c0001t0023g0107	1	452	0.0022	-34	c.-92 others(49): Show c.-92-270_-92-237delGGTCAAAGTATGTGCTTTTTGAAGCCACAG CCCT		SSTR2	ENSG00000180616.9	transcript	ENST00000357585.4	protein_coding	1/1						chr17	TogoVar
ST18_chr8_52105838_52414756	52357676	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0062 a0001c0001t0005g0062	1	18	0.0556	-34	c.-46 others(55): Show c.-465+51618_-465+51651delATATATATATATATATATATATAT ATATATATAT		ST18	ENSG00000147488.13	transcript	ENST00000689386.1	protein_coding	2/25						chr8	TogoVar
ST7_chr7_116948501_117235176	117152177	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	86	0.0116	-34	c.963 others(53): Show c.963+13658_963+13691delTATATATATATATATATATATATATA TATATATA		ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	9/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
ST8SIA1_chr12_22188391_22339707	22320996	AAAGAAAG others(27): Show AAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0158 a0001c0001t0158	a0001c0001t0158g0052 a0001c0001t0158g0052	1	273	0.0037	-34	c.236 others(53): Show c.236+12967_236+13000delCTTTCTTTCTTTCTTTCTTTCTTTCT TCTTTCTT		ST8SIA1	ENSG00000111728.11	transcript	ENST00000396037.9	protein_coding	1/4						chr12	TogoVar
STAB2_chr12_103582273_103771719	103748584	CCACACAC others(27): Show CCACACACACACACACACACATACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01928.hp2 HG02109.hp2 others(4): Show HG01261.hp2 HG01928.hp2 HG02109.hp2 HG02148.hp1 HG02615.hp2 HG02970.hp2 HG03927.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0007 a0026	a0001c0039 a0002c0007 a0002c0017 others(3): Show a0001c0039 a0002c0007 a0002c0017 a0006c0019 a0007c0010 a0026c0100	a0001c0039t0001 a0002c0007t0001 a0002c0017t0001 others(3): Show a0001c0039t0001 a0002c0007t0001 a0002c0017t0001 a0006c0019t0001 a0007c0010t0001 a0026c0100t0001	a0001c0039t0001g0038 a0001c0039t0001g0039 a0002c0007t0001g0060 others(4): Show a0001c0039t0001g0038 a0001c0039t0001g0039 a0002c0007t0001g0060 a0002c0017t0001g0182 a0006c0019t0001g0018 a0007c0010t0001g0224 a0026c0100t0001g0078	7	159	0.0440	-34	c.624 others(51): Show c.6245-358_6245-325delTACACACACACACACACACACACACACA CACACA		STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding	58/68					INFO_REALIGN_3_PRIME	chr12	TogoVar
STAM_chr10_17639151_17721824	17713389	TTGCCTAT others(27): Show TTGCCTATGCAGGACAACAGGCTTGAATAGCTGAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02818.hp2 HG02258.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0185 a0001c0001t0001g0186	2	424	0.0047	-34	c.138 others(53): Show c.1386-1143_1386-1110delGGACAACAGGCTTGAATAGCTGACTG CCTATGCA		STAM	ENSG00000136738.15	transcript	ENST00000377524.8	protein_coding	13/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
STAT6_chr12_57090408_57116362	57100666	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0022 a0001c0001t0009g0022	1	366	0.0027	-34	c.151 others(51): Show c.1513-610_1513-577delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT		STAT6	ENSG00000166888.12	transcript	ENST00000300134.8	protein_coding	13/21						chr12	TogoVar
STAU1_chr20_49108339_49193334	49108510	ACACACAC others(27): Show ACACACACACACACACACACACACACCCCCCCCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	364	0.0027	-34	c.63 others(45): Show c.6334_*6367delGGGGGGGGGGTGTGTGTGTGTGTGTGTGTGTGTG		STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding					4828		chr20	TogoVar
STAU2_chr8_73415369_73751840	73605844	CACACACA others(27): Show CACACACACACACACACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02886.hp2 HG03453.hp1 HG02622.hp1 HG02886.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0001c0001t0001 a0001c0001t0004 a0001c0003t0001	a0001c0001t0001g0019 a0001c0001t0004g0070 a0001c0003t0001g0015 a0001c0001t0001g0019 a0001c0001t0004g0070 a0001c0003t0001g0015	3	238	0.0126	-34	c.892 others(51): Show c.892-2015_892-1982delATGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT		STAU2	ENSG00000040341.18	transcript	ENST00000524300.6	protein_coding	9/14						chr8	TogoVar
STIM1_chr11_3850664_4098208	3895674	CCTTCCTT others(27): Show CCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0116 a0001c0002t0001g0116	1	297	0.0034	-34	c.139 others(53): Show c.139+39266_139+39299delCTTCCTTCCTTCTTTCTTTCTTTCTT TCTTTCTT		STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12						chr11	TogoVar
STIM1_chr11_3850664_4098208	3895721	TCTTTCTT others(27): Show TCTTTCTTTCTTTCTTTTTCTTTCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA21309.hp2 HG01243.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0019 a0001c0001t0006 a0001c0001t0019	a0001c0001t0006g0089 a0001c0001t0019g0236 a0001c0001t0006g0089 a0001c0001t0019g0236	2	297	0.0067	-34	c.139 others(53): Show c.139+39316_139+39349delTCTTTCTTTCTTTTTCTTTCTTCCTT CCTTCCTT		STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM2_chr4_26855841_27030381	26885821	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0122 a0001c0001t0014g0122	1	110	0.0091	-34	c.151 others(53): Show c.151+24472_151+24505delATATATATATATATATATATATATAT ATATATAT		STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
STIP1_chr11_64181171_64209543	64188002	CCCTCCAG others(27): Show CCCTCCAGCCTGGGCCACAGAGCGAGACTCCGTCT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG03831.hp2 HG02071.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0084 a0001c0003t0001g0085 a0001c0003t0001g0084 a0001c0003t0001g0085	2	376	0.0053	-34	c.9+1 others(47): Show c.9+1734_9+1767delCTCCAGCCTGGGCCACAGAGCGAGACTCCGTC TC		STIP1	ENSG00000168439.17	transcript	ENST00000305218.9	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr11	TogoVar
STK10_chr5_172037079_172193224	172192892	TAAAAATA others(27): Show TAAAAATACAAAAATTGGGCTGGGTGCAGTGGCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0134 a0001c0002t0008g0134	1	230	0.0043	-34	c.-48 others(45): Show c.-4884_-4851delGAGCCACTGCACCCAGCCCAATTTTTGTATTTTT		STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding					4669		chr5	TogoVar
STK32B_chr4_5046480_5505989	5064454	CTTATATA others(27): Show CTTATATACATATAATATATAAATATATACTTATG	C C	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01891.hp1 HG03098.hp1 others(1): Show HG01169.hp2 HG01891.hp1 HG03098.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0002 a0001c0001t0010 a0002c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0010 a0002c0002t0002 a0002c0004t0009	a0001c0001t0002g0008 a0001c0001t0010g0004 a0002c0002t0002g0156 others(1): Show a0001c0001t0002g0008 a0001c0001t0010g0004 a0002c0002t0002g0156 a0002c0004t0009g0149	4	167	0.0240	-34	c.52+ others(51): Show c.52+12553_52+12586delATATATAAATATATACTTATGTTATATA CATATA		STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
STMN4_chr8_27230308_27263404	27260998	TCACCCTA others(27): Show TCACCCTATTTTAGGAGGGTTTGTTCACCCTCTAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	432	0.0023	-34	c.-27 others(45): Show c.-2760_-2727delGTAGAGGGTGAACAAACCCTCCTAAAATAGGGTG		STMN4	ENSG00000015592.17	transcript	ENST00000350889.9	protein_coding					2595		chr8	TogoVar
STON2_chr14_81255652_81405324	81308792	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02523.hp1 HG02132.hp1 HG02523.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0022 a0003c0003t0003g0023 a0003c0003t0003g0022 a0003c0003t0003g0023	2	262	0.0076	-34	c.742 others(53): Show c.742+15191_742+15224delCATATATATATATATATATATATATA TATATATA		STON2	ENSG00000140022.14	transcript	ENST00000614646.5	protein_coding	5/7						chr14	TogoVar
STRA8_chr7_135228838_135263663	135237245	CCTAGGGA others(27): Show CCTAGGGAGGAGAGTTCCAGACTGTTTTCTCTACA	C C	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0213 a0001c0002t0002g0213	1	414	0.0024	-34	c.-6- others(49): Show c.-6-3271_-6-3238delAGGGAGGAGAGTTCCAGACTGTTTTCTCTA CACT		STRA8	ENSG00000146857.5	transcript	ENST00000662584.2	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
STRN_chr2_36832698_36971536	36845884	AACACACA others(27): Show AACACACACACACACACACACACGCATGCATGCAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp2 HG01168.hp1 HG01952.hp1 others(9): Show HG00323.hp2 HG01168.hp1 HG01952.hp1 HG02602.hp1 HG03239.hp1 HG03491.hp1 HG03834.hp1 HG03942.hp1 NA19007.hp1 NA19064.hp2 NA19066.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0054 a0001c0001t0002 a0001c0001t0003 a0001c0001t0054	a0001c0001t0002g0010 a0001c0001t0002g0063 a0001c0001t0002g0074 others(9): Show a0001c0001t0002g0010 a0001c0001t0002g0063 a0001c0001t0002g0074 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0067 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0095 a0001c0001t0054g0100	12	88	0.1364	-34	c.35 others(45): Show c.3538_*3571delGTGCATGCATGCGTGTGTGTGTGTGTGTGTGTGT		STRN	ENSG00000115808.13	transcript	ENST00000263918.9	protein_coding	18/18				3538		chr2	TogoVar

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