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
SP140L_chr2_230322193_230408732	230354881	G G	GAAAGAAA others(30): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18946.hp2 HG00558.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0001 a0001c0018t0001 a0001c0001t0001 a0001c0018t0001	a0001c0001t0001g0136 a0001c0018t0001g0168 a0001c0001t0001g0136 a0001c0018t0001g0168	2	271	0.0074	37	c.108 others(54): Show c.108-2908_108-2907insAAAGAAAGAAAGAAAGAAAGAAAAGAAA GAAAGAAAG	SP140L	ENSG00000185404.17	transcript	ENST00000415673.7	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAAR_chr9_35904490_35916686	35909891	T T	TGCCTTCC others(30): Show TGCCTTCCTCCCTCCTCATGTCCCTGCCCCCAGCACAG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	418	0.0024	37	c.-30 others(54): Show c.-307-264_-307-228dupCCTTCCTCCCTCCTCATGTCCCTGCCCC CAGCACAGG	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	136	0.0074	37	c.-18 others(48): Show c.-1805_-1804insATATATATATATATATATTTTTTTTTTTTTTTTT TTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	136	0.0074	37	c.-18 others(48): Show c.-1805_-1804insATATATATATATATATATATATTTTTTTTTTTTT TTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAT others(30): Show AAAAAAATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	136	0.0074	37	c.-18 others(48): Show c.-1805_-1804insATATATATATATATATATATATATATATATATTT TTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAATAT others(30): Show AAAAATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	136	0.0074	37	c.-18 others(48): Show c.-1805_-1804insATATATATATATATATATATATATATATATATAT TTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG9_chr17_50957174_51125868	51037691	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01192.hp1 HG04199.hp1 HG00280.hp2 HG01192.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0257 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0257	3	239	0.0126	37	c.741 others(54): Show c.741+3809_741+3810insTATATATATATATATATATATATATATA TATATATAT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	5/29			chr17	TogoVar
SPATA13_chr13_24155720_24312069	24190154	T T	TATAATGA others(30): Show TATAATGATATATAATATATATCATATAACATATAATG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0067 a0001c0001t0005g0067	1	54	0.0185	37	c.-11 others(58): Show c.-112+29225_-112+29226insATGATATATAATATATATCATATA ACATATAATGATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24309306	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0131 a0015c0022t0131	a0015c0022t0131g0003 a0015c0022t0131g0003	1	350	0.0029	37	c.65 others(48): Show c.6533_*6534insATATATATATATATATATATATATATATATATAT ATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding		2238		chr13	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(30): Show AAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	135	0.0074	37	c.39+ others(52): Show c.39+6751_39+6752insAAAAAAATATATATATATATATATATATAT ATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200477515	T T	TAAAAAAA others(30): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0136 a0001c0001t0017g0136	1	99	0.0101	37	c.128 others(52): Show c.1282-98_1282-97insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPC24_chr19_11140493_11160782	11146465	T T	TAAAAAAA others(30): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0147 a0001c0001t0147	a0001c0001t0147g0098 a0001c0001t0147g0098	1	76	0.0132	37	c.71 others(46): Show c.717_*718insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SPC24	ENSG00000161888.12	transcript	ENST00000592540.6	protein_coding	5/5	717		chr19	TogoVar
SPDYE2_chr7_102546226_102568538	102547820	A A	AAAAGAAA others(30): Show AAAAGAAAGAGAGAAAGGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0005 a0001c0011t0005	a0001c0011t0005g0073 a0001c0011t0005g0073	1	163	0.0061	37	c.-38 others(48): Show c.-3890_-3889insAAAGAAAGAGAGAAAGGAAAGAAAGAAAGAAAGA AAG	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		3405		chr7	TogoVar
SPECC1L_chr22_24265831_24422738	24272828	C C	CCCCCCCC others(30): Show CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCTT	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0064 a0001c0002t0010g0064	1	324	0.0031	37	c.-14 others(56): Show c.-142+1846_-142+1847insCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCTCCTTC	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1_chr17_20004359_20324026	20021702	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0062 a0004c0015t0062	a0004c0015t0062g0238 a0004c0015t0062g0238	1	38	0.0263	37	c.-22 others(56): Show c.-22+12279_-22+12280insATATATATATATATATATATATATAT TTTTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20021702	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0010 a0004c0005t0010	a0004c0005t0010g0235 a0004c0005t0010g0235	1	38	0.0263	37	c.-22 others(56): Show c.-22+12279_-22+12280insATATATATATATATATATATATATTT TTTTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPHKAP_chr2_227974955_228186687	228043835	C C	CCTTTAAA others(30): Show CCTTTAAAGTAATAAAACATAATAACATCTAGTGGTTG	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA19080.hp1 HG00558.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0271 a0001c0001t0002g0153 a0001c0001t0002g0271	2	320	0.0063	37	c.247 others(56): Show c.247-16329_247-16293dupCAACCACTAGATGTTATTATGTTTTA TTACTTTAAAG	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPIB_chr19_50413938_50436314	50434981	T T	TTGGGTCT others(30): Show TTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG02257.hp1 HG02723.hp2 HG01346.hp2 HG02257.hp1 HG02723.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0025 a0001c0003t0027 a0002c0001t0001 a0001c0002t0025 a0001c0003t0027 a0002c0001t0001	a0001c0002t0025g0149 a0001c0003t0027g0089 a0002c0001t0001g0051 a0001c0002t0025g0149 a0001c0003t0027g0089 a0002c0001t0001g0051	3	311	0.0096	37	c.66 others(48): Show c.6645_*6646insTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGAC TCC	SPIB	ENSG00000269404.7	transcript	ENST00000595883.6	protein_coding		3668		chr19	TogoVar
SPIB_chr19_50413938_50436314	50434981	T T	TTGGGTCT others(30): Show TTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGGCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00423.hp1 others(32): Show HG00099.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00741.hp2 HG01123.hp1 HG01168.hp1 HG01175.hp2 HG01261.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG02056.hp1 HG02165.hp1 HG02602.hp1 HG02683.hp1 HG02738.hp1 HG03490.hp1 HG03654.hp2 HG04115.hp1 NA18949.hp2 NA18951.hp2 NA18964.hp1 NA18965.hp2 NA18973.hp2 NA19063.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0007 others(1): Show a0001c0002 a0001c0003 a0001c0007 a0002c0001	a0001c0002t0003 a0001c0003t0001 a0001c0003t0003 others(4): Show a0001c0002t0003 a0001c0003t0001 a0001c0003t0003 a0001c0007t0003 a0002c0001t0002 a0002c0001t0003 a0002c0001t0024	a0001c0002t0003g0009 a0001c0002t0003g0022 a0001c0002t0003g0026 others(19): Show a0001c0002t0003g0009 a0001c0002t0003g0022 a0001c0002t0003g0026 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0064 a0001c0002t0003g0065 a0001c0002t0003g0104 a0001c0002t0003g0106 a0001c0002t0003g0168 a0001c0002t0003g0170 a0001c0003t0001g0001 a0001c0003t0003g0080 a0001c0003t0003g0085 a0001c0007t0003g0164 a0002c0001t0002g0020 a0002c0001t0003g0016 a0002c0001t0003g0132 a0002c0001t0003g0136 a0002c0001t0003g0145 a0002c0001t0003g0173 a0002c0001t0024g0016	35	343	0.1020	37	c.66 others(48): Show c.6645_*6646insTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGGC TCC	SPIB	ENSG00000269404.7	transcript	ENST00000595883.6	protein_coding		3668		chr19	TogoVar
SPICE1_chr3_113437718_113520156	113480912	T T	TAAAGAAA others(30): Show TAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	90	0.0111	37	c.611 others(54): Show c.611+8032_611+8033insCTTTCTTTCTTTCTTTTCTTTCTTTCTT TCTTTCTTT	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17			chr3	TogoVar
SPICE1_chr3_113437718_113520156	113480931	A A	AGAAAGAA others(30): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01106.hp2 HG01243.hp2 others(7): Show HG01069.hp2 HG01106.hp2 HG01243.hp2 HG01891.hp1 HG02622.hp1 HG03130.hp2 HG03486.hp2 NA18975.hp2 NA19011.hp2 NA19030.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0001c0004 a0005c0009 a0001c0002 a0001c0004 a0005c0009	a0001c0002t0003 a0001c0002t0007 a0001c0002t0014 others(2): Show a0001c0002t0003 a0001c0002t0007 a0001c0002t0014 a0001c0004t0024 a0005c0009t0013	a0001c0002t0003g0249 a0001c0002t0003g0250 a0001c0002t0003g0273 others(7): Show a0001c0002t0003g0249 a0001c0002t0003g0250 a0001c0002t0003g0273 a0001c0002t0003g0299 a0001c0002t0003g0304 a0001c0002t0007g0264 a0001c0002t0014g0306 a0001c0004t0024g0237 a0005c0009t0013g0243 a0005c0009t0013g0244	10	289	0.0346	37	c.611 others(54): Show c.611+8013_611+8014insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTC	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17			chr3	TogoVar
SPINK13_chr5_148263794_148291255	148284171	T T	TTTCCTCC others(30): Show TTTCCTCCCTCCCTCCCTTTCCTTTCTTTCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01069.hp2 HG01071.hp1 others(92): Show HG00408.hp1 HG01069.hp2 HG01071.hp1 HG01243.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG02027.hp2 HG02055.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18940.hp1 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18950.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18968.hp2 NA18969.hp2 NA18974.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18993.hp2 NA18994.hp2 NA19000.hp2 NA19001.hp2 NA19004.hp1 NA19006.hp1 NA19007.hp2 NA19012.hp2 NA19030.hp1 NA19058.hp1 NA19060.hp1 NA19067.hp2 NA19074.hp1 NA19075.hp2 NA19078.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19089.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0010 others(37): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0002g0102	95	331	0.2870	37	c.237 others(54): Show c.237-1814_237-1813insCTTTCCTTTCTTTCTTCCTTCCTTCCTC CCTCCCTCC	SPINK13	ENSG00000214510.10	transcript	ENST00000398450.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK2_chr4_56804861_56826701	56821746	A A	AGGGCGGG others(30): Show AGGGCGGGGAAAGGGGCGGGGGAAGGGGCGGGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0010 a0002c0002t0002g0010	1	363	0.0028	37	c.-85 others(44): Show c.-85_-84insCTTCCCCCCGCCCCTTCCCCCGCCCCTTTCCCCGCCC	SPINK2	ENSG00000128040.13	transcript	ENST00000506738.6	protein_coding		46		chr4	TogoVar
SPINK5_chr5_148058980_148142382	148123414	T T	TTATATAT others(30): Show TTATATATAGATAGATATTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02965.hp1 HG03098.hp2 others(6): Show HG02486.hp1 HG02965.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03516.hp1 NA18522.hp1 NA18906.hp1 NA19030.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0005 a0007c0008t0006 a0007c0008t0005 a0007c0008t0006	a0007c0008t0005g0142 a0007c0008t0005g0143 a0007c0008t0005g0144 others(6): Show a0007c0008t0005g0142 a0007c0008t0005g0143 a0007c0008t0005g0144 a0007c0008t0005g0145 a0007c0008t0005g0148 a0007c0008t0006g0077 a0007c0008t0006g0078 a0007c0008t0006g0080 a0007c0008t0006g0095	9	230	0.0391	37	c.253 others(54): Show c.2539-411_2539-410insGATAGATATTATCTATCTATCTATCTAT CTATATATA	SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding	26/32		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp2 HG01071.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0002 a0001c0001t0007g0007 a0001c0001t0007g0008 a0001c0001t0007g0002 a0001c0001t0007g0007 a0001c0001t0007g0008	3	140	0.0214	37	c.372 others(56): Show c.372+19716_372+19717insATATATATATATATATATTTTTTTTT TTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE2_chr16_89823475_89876319	89869045	A A	ACATATAT others(30): Show ACATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA18947.hp2 HG01175.hp1 NA18947.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0007 a0002c0002 a0005c0007	a0002c0002t0002 a0005c0007t0002 a0002c0002t0002 a0005c0007t0002	a0002c0002t0002g0256 a0005c0007t0002g0262 a0002c0002t0002g0256 a0005c0007t0002g0262	2	323	0.0062	37	c.180 others(54): Show c.1807-522_1807-521insCATATATATATATATATATATATATATA TATATATAT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14			chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(30): Show AAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02647.hp1 others(1): Show HG01070.hp2 HG01071.hp2 HG02647.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 others(1): Show a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0004g0076	4	33	0.1212	37	c.180 others(54): Show c.1807-513_1807-512insAAAAAAATATATATATATATATATATAT ATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAACAT others(30): Show AAAAACATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0321 a0001c0001t0003g0321	1	30	0.0333	37	c.180 others(54): Show c.1807-513_1807-512insAAACATATATATATATATATATATATAT ATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAACAAAC others(30): Show AAACAAACATATATATATGTATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0344 a0001c0001t0003g0344	1	30	0.0333	37	c.180 others(54): Show c.1807-513_1807-512insACAAACATATATATATGTATATATATAT ATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPNS2_chr17_4493881_4544035	4494974	T T	TAAAAAAA others(30): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0355 a0001c0001t0004g0355	1	42	0.0238	37	c.-40 others(48): Show c.-4074_-4073insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding		3906		chr17	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	35	0.0286	37	c.-12 others(48): Show c.-1200_-1199insAAAAAAATATATATATATATATATATATATATAT ATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCK3_chr4_166728384_167239494	167205406	T T	TTATATAT others(30): Show TTATATATTAAATATATAATATATAATATATAATATAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0102	1	141	0.0071	37	c.189 others(56): Show c.189+28542_189+28578dupTTATATTATATATTATATATTATATA TTTAATATATA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPPL2B_chr19_2323684_2360095	2347577	A A	ACACACAC others(30): Show ACACACACACTCTCATTCGCCTGATTCCGTTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0274 a0001c0001t0002g0274	1	412	0.0024	37	c.135 others(56): Show c.1354+2252_1354+2253insACACTCTCATTCGCCTGATTCCGTTC TCTCTCCACAC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL3_chr12_120757510_120909358	120852588	T T	TATATGAA others(30): Show TATATGAAACATATGCATATATAATATACATATTTTAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03540.hp2 HG02896.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0020 a0001c0001t0019 a0001c0001t0020	a0001c0001t0019g0003 a0001c0001t0020g0002 a0001c0001t0019g0003 a0001c0001t0020g0002	2	318	0.0063	37	c.24- others(54): Show c.24-41703_24-41702insGTAAAATATGTATATTATATATGCATAT GTTTCATAT	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPTBN1_chr2_54451327_54676446	54522646	A A	AAGAAAGA others(30): Show AAGAAAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0319 a0001c0003t0003g0319	1	336	0.0030	37	c.-47 others(54): Show c.-47-3723_-47-3722insAAGAGAGAGAGAGGAGAGAGAGAGAGAG AGAGAGAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54576055	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0007 a0001c0009t0007	a0001c0009t0007g0336 a0001c0009t0007g0336	1	129	0.0078	37	c.149 others(56): Show c.149-23020_149-23019insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SREBF1_chr17_17806334_17841986	17829205	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0139 a0001c0002t0003g0139	1	194	0.0052	37	c.91+ others(52): Show c.91+7521_91+7522insATATATATATATATATTTTTTTTTTTTTTT TTTTTTT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SRP68_chr17_76033785_76077517	76062664	A A	ATATATAA others(30): Show ATATATAATATACATATTATATAATATATAATATACAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0191 a0001c0001t0003g0191	1	345	0.0029	37	c.562 others(54): Show c.562-1091_562-1090insATGTATATTATATATTATATAATATGTA TATTATATA	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRXN1_chr20_641615_658200	642300	G G	GGGGCCCA others(30): Show GGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0012 a0001c0001t0008g0012	1	6	0.1667	37	c.64 others(48): Show c.6413_*6414insGCCCCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4314		chr20	TogoVar
SSBP3_chr1_54220432_54411394	54235448	A A	ATTTTTTT others(30): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0200 a0001c0001t0017g0200	1	126	0.0079	37	c.927 others(54): Show c.927+3680_927+3681insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	14/17			chr1	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0007 a0002c0003t0003g0007	1	190	0.0053	37	c.138 others(54): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0154 a0002c0003t0002g0154	1	190	0.0053	37	c.138 others(54): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(30): Show ATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0055 a0003c0007t0002g0055	1	190	0.0053	37	c.138 others(54): Show c.1387+451_1387+452insATATATATATTTTTTTTTTTTTTTTTTT TTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495234	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	342	0.0029	37	c.138 others(54): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATATA	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13			chr19	TogoVar
SSPN_chr12_26190573_26239777	26201022	T T	TATAAAAT others(30): Show TATAAAATATATATATATAAATAATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0105 a0002c0003t0006g0105	1	381	0.0026	37	c.279 others(54): Show c.279+5074_279+5075insAAATATATATATATAAATAATATATATA TATATAATA	SSPN	ENSG00000123096.12	transcript	ENST00000242729.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
SSPN_chr12_26190573_26239777	26201024	T T	TATAAAAT others(30): Show TATAAAATATATATATATAAATAATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02622.hp1 HG02723.hp2 others(1): Show HG00642.hp2 HG02622.hp1 HG02723.hp2 HG03486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0035 a0002c0003t0006 a0002c0003t0035	a0002c0003t0006g0091 a0002c0003t0006g0097 a0002c0003t0006g0100 others(1): Show a0002c0003t0006g0091 a0002c0003t0006g0097 a0002c0003t0006g0100 a0002c0003t0035g0104	4	367	0.0109	37	c.279 others(54): Show c.279+5076_279+5077insAAATATATATATATAAATAATATATATA TATATAATA	SSPN	ENSG00000123096.12	transcript	ENST00000242729.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
SSPN_chr12_26190573_26239777	26201024	T T	TATAAAAT others(30): Show TATAAAATATATATATATATAAATAATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0046 a0005c0006t0046	a0005c0006t0046g0092 a0005c0006t0046g0092	1	364	0.0027	37	c.279 others(54): Show c.279+5076_279+5077insAAATATATATATATATAAATAATATATA TATATAATA	SSPN	ENSG00000123096.12	transcript	ENST00000242729.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
SSTR5_chr16_1067747_1086454	1076148	T T	TCTCCCCC others(30): Show TCTCCCCCCACCTTTTCTCTCTCCCTCCCCACCTCCCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp2 HG02145.hp2 others(9): Show HG01109.hp2 HG01891.hp2 HG02145.hp2 HG02647.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03209.hp2 HG03225.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0005t0006 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0005t0006 a0002c0002t0002 a0002c0002t0009	a0001c0001t0001g0091 a0001c0005t0006g0007 a0001c0005t0006g0092 others(2): Show a0001c0001t0001g0091 a0001c0005t0006g0007 a0001c0005t0006g0092 a0002c0002t0002g0007 a0002c0002t0009g0084	12	347	0.0346	37	c.-27 others(54): Show c.-27-2689_-27-2688insCCCACCTTTTCTCTCTCCCTCCCCACCT CCCCCTCCC	SSTR5	ENSG00000162009.10	transcript	ENST00000689027.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
SSU72L6_chr7_124471317_124482664	124479016	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	284	0.0035	37	c.20 others(48): Show c.2061_*2062insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SSU72L6	ENSG00000230268.4	transcript	ENST00000473520.2	protein_coding		1353		chr7	TogoVar
ST13_chr22_40819535_40861639	40820663	T T	TAAAAAAA others(30): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0017	1	145	0.0069	37	c.58 others(48): Show c.5874_*5875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	ST13	ENSG00000100380.15	transcript	ENST00000216218.8	protein_coding		3871		chr22	TogoVar

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