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
SEPTIN9_chr17_77314518_77505593	77335950	ATATACAT others(50): Show ATATACATGTAGGTCCTATGTTGACTGTATATGTGGTCCTATATTAGTAT ATGTACTG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp1 HG01168.hp2 others(26): Show HG00738.hp1 HG01099.hp1 HG01168.hp2 HG01261.hp1 HG02040.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02647.hp1 HG02895.hp2 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18973.hp2 NA18979.hp1 NA19043.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0002c0005 others(2): Show a0001c0001 a0002c0002 a0002c0005 a0003c0003 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0001c0001t0021 a0001c0001t0033 a0001c0001t0034 a0001c0001t0046 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0059 a0002c0002t0003 a0002c0002t0009 a0002c0002t0012 a0002c0002t0026 a0002c0005t0011 a0003c0003t0043 a0004c0008t0004	a0001c0001t0001g0038 a0001c0001t0001g0132 a0001c0001t0001g0149 others(26): Show a0001c0001t0001g0038 a0001c0001t0001g0132 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0002g0142 a0001c0001t0002g0155 a0001c0001t0003g0138 a0001c0001t0005g0126 a0001c0001t0016g0091 a0001c0001t0016g0144 a0001c0001t0021g0157 a0001c0001t0021g0158 a0001c0001t0033g0125 a0001c0001t0034g0137 a0001c0001t0046g0054 a0001c0001t0048g0131 a0001c0001t0049g0145 a0001c0001t0050g0119 a0001c0001t0059g0122 a0002c0002t0003g0117 a0002c0002t0003g0139 a0002c0002t0003g0141 a0002c0002t0009g0136 a0002c0002t0012g0140 a0002c0002t0026g0118 a0002c0005t0011g0135 a0003c0003t0043g0046 a0004c0008t0004g0146	29	158	0.1835	-57	c.22+ others(74): Show c.22+15672_22+15728delTCCTATGTTGACTGTATATGTGGTCCTA TATTAGTATATGTACTGTATACATGTAGG		SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
SH3RF2_chr5_145931578_146068292	146064717	AGAAAGAA others(50): Show AGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	272	0.0037	-57	c.20 others(68): Show c.2017_*2073delGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAG		SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding					1426		chr5	TogoVar
SIK3_chr11_116838402_117103428	116848005	TGGCTACT others(50): Show TGGCTACTGAGCACTTAAAGTGTGACTGGGCTGGGCACGGTGGCTCATGC CTGTAATC	T T	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	366	0.0027	-57	c.382 others(74): Show c.3820-454_3820-398delGATTACAGGCATGAGCCACCGTGCCCAG CCCAGTCACACTTTAAGTGCTCAGTAGCC		SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	22/24						chr11	TogoVar
SIN3B_chr19_16824398_16885349	16874386	GTTTGGTC others(50): Show GTTTGGTCTGGTCTGGTCTGGCTTTGGTCTGATTTGGTTTGGTTTTGGTT TGGTCTGA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01192.hp2 HG01099.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0090 a0001c0001t0008g0091 a0001c0001t0008g0090 a0001c0001t0008g0091	2	372	0.0054	-57	c.259 others(76): Show c.2593-1652_2593-1596delCTGGCTTTGGTCTGATTTGGTTTGGT TTTGGTTTGGTCTGATTTGGTCTGGTCTGGT		SIN3B	ENSG00000127511.10	transcript	ENST00000248054.10	protein_coding	14/18					INFO_REALIGN_3_PRIME	chr19	TogoVar
SLC15A5_chr12_16183485_16282685	16205541	TATATGTA others(50): Show TATATGTATATATATATATTCCATAAGAAGGGAAAGGTGCATATATATAT ACATATAC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0019 a0019	a0019c0034 a0019c0034	a0019c0034t0001 a0019c0034t0001	a0019c0034t0001g0056 a0019c0034t0001g0056	1	324	0.0031	-57	c.148 others(78): Show c.1484-11145_1484-11089delGTATATGTATATATATATGCACCT TTCCCTTCTTATGGAATATATATATATACATAT		SLC15A5	ENSG00000188991.3	transcript	ENST00000344941.3	protein_coding	7/8						chr12	TogoVar
SLC22A12_chr11_64586220_64607344	64594938	TTGGATGG others(50): Show TTGGATGGATGGATGGATGGATGGTTGGAATAGATGGATGGATGGATGGG TGGATGGA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	390	0.0026	-57	c.830 others(74): Show c.830+1159_830+1215delTTGGAATAGATGGATGGATGGATGGGTG GATGGATGGATGGATGGATGGATGGATGG		SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A31_chr16_89190761_89205537	89192694	ACGCCGCT others(50): Show ACGCCGCTTCCTCCCCAGCTCCGCCTCCTCCCTAACCCCGCCCCCTCATT ACCAGCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	1	428	0.0023	-57	c.32 others(68): Show c.3248_*3304delAGGCTGGTAATGAGGGGGCGGGGTTAGGGAGGAG GCGGAGCTGGGGAGGAAGCGGCG		SLC22A31	ENSG00000259803.8	transcript	ENST00000682282.1	protein_coding					3066		chr16	TogoVar
SLC25A26_chr3_66216001_66383923	66216054	TTTGTGAA others(50): Show TTTGTGAAGCTTCTTTTACGAAGACTTTAGTCATATTCACAAGGGAGGAG CCATCATG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0078 a0006c0008t0002g0078	1	298	0.0034	-57	c.-50 others(68): Show c.-5040_-4984delTTGTGAAGCTTCTTTTACGAAGACTTTAGTCATA TTCACAAGGGAGGAGCCATCATG		SLC25A26	ENSG00000144741.19	transcript	ENST00000354883.11	protein_coding					4946		chr3	TogoVar
SLC29A4_chr7_5277943_5311912	5295725	TCTGCCTG others(50): Show TCTGCCTGGTGCTGAGGTCCACCAGATGCCCCAGAGCTTCCAGACTCCCA CGTGGGAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(65): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02071.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03704.hp1 HG03704.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18943.hp1 NA18947.hp2 NA18953.hp2 NA18956.hp1 NA18960.hp2 NA19004.hp2 NA19043.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0020 a0001c0002 a0001c0006 a0001c0020	a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 others(31): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0011 a0001c0002t0016 a0001c0002t0018 a0001c0002t0025 a0001c0002t0038 a0001c0002t0039 a0001c0002t0040 a0001c0002t0045 a0001c0002t0051 a0001c0002t0073 a0001c0002t0074 a0001c0002t0075 a0001c0002t0076 a0001c0002t0077 a0001c0002t0078 a0001c0002t0079 a0001c0002t0080 a0001c0002t0081 a0001c0002t0082 a0001c0002t0083 a0001c0002t0084 a0001c0002t0085 a0001c0002t0115 a0001c0002t0167 a0001c0002t0182 a0001c0002t0187 a0001c0006t0016 a0001c0006t0183 a0001c0006t0184 a0001c0020t0005	a0001c0002t0002g0305 a0001c0002t0004g0352 a0001c0002t0004g0356 others(65): Show a0001c0002t0002g0305 a0001c0002t0004g0352 a0001c0002t0004g0356 a0001c0002t0005g0036 a0001c0002t0005g0052 a0001c0002t0005g0315 a0001c0002t0005g0316 a0001c0002t0005g0318 a0001c0002t0005g0321 a0001c0002t0005g0327 a0001c0002t0005g0348 a0001c0002t0005g0349 a0001c0002t0005g0350 a0001c0002t0005g0351 a0001c0002t0005g0353 a0001c0002t0005g0357 a0001c0002t0005g0358 a0001c0002t0008g0063 a0001c0002t0008g0179 a0001c0002t0008g0186 a0001c0002t0008g0192 a0001c0002t0008g0193 a0001c0002t0008g0323 a0001c0002t0011g0178 a0001c0002t0011g0185 a0001c0002t0011g0187 a0001c0002t0011g0191 a0001c0002t0016g0008 a0001c0002t0016g0056 a0001c0002t0016g0076 a0001c0002t0018g0072 a0001c0002t0018g0073 a0001c0002t0018g0078 a0001c0002t0018g0079 a0001c0002t0025g0205 a0001c0002t0038g0008 a0001c0002t0038g0055 a0001c0002t0038g0203 a0001c0002t0039g0057 a0001c0002t0039g0074 a0001c0002t0039g0077 a0001c0002t0040g0188 a0001c0002t0040g0282 a0001c0002t0045g0317 a0001c0002t0045g0326 a0001c0002t0051g0359 a0001c0002t0073g0189 a0001c0002t0074g0032 a0001c0002t0075g0290 a0001c0002t0076g0004 a0001c0002t0077g0190 a0001c0002t0078g0004 a0001c0002t0079g0081 a0001c0002t0080g0297 a0001c0002t0081g0287 a0001c0002t0082g0075 a0001c0002t0083g0177 a0001c0002t0084g0048 a0001c0002t0085g0070 a0001c0002t0115g0004 a0001c0002t0167g0368 a0001c0002t0182g0033 a0001c0002t0187g0354 a0001c0006t0016g0313 a0001c0006t0016g0361 a0001c0006t0183g0347 a0001c0006t0184g0325 a0001c0020t0005g0054	68	408	0.1667	-57	c.619 others(72): Show c.619+792_619+848delCTGCCTGGTGCTGAGGTCCACCAGATGCCC CAGAGCTTCCAGACTCCCACGTGGGAG		SLC29A4	ENSG00000164638.11	transcript	ENST00000396872.8	protein_coding	6/10						chr7	TogoVar
SLC7A10_chr19_33203664_33230850	33215123	CCAGGCGT others(50): Show CCAGGCGTGGTGGCGGGCGCCTATAATCCCAGCTACTCGGGAGTCTGAGG CAGGAGAA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	410	0.0024	-57	c.356 others(72): Show c.356+589_356+645delTTCTCCTGCCTCAGACTCCCGAGTAGCTGG GATTATAGGCGCCCGCCACCACGCCTG		SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	2/10						chr19	TogoVar
SLC7A1_chr13_29504414_29600688	29558693	GGGGGAGT others(50): Show GGGGGAGTGAATCTGAATGAGGGGGGAGTGAATGTGAGGGGGGAGAGAAT GTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0171 a0001c0002t0002g0171	1	330	0.0030	-57	c.-11 others(76): Show c.-114-4890_-114-4834delTCACTCACATTCTCTCCCCCCTCACA TTCACTCCCCCCTCATTCAGATTCACTCCCC		SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12						chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558927	AGTGAGGG others(50): Show AGTGAGGGGGAGAGAATGTGAGTGAGGCAGAGTGAATCTGAATGAGGGGG GAGTGAAT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18984.hp1 NA19075.hp1 HG02970.hp1 NA18984.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0045 a0001c0001t0001 a0001c0001t0045	a0001c0001t0001g0245 a0001c0001t0001g0263 a0001c0001t0045g0082 a0001c0001t0001g0245 a0001c0001t0001g0263 a0001c0001t0045g0082	3	330	0.0091	-57	c.-11 others(76): Show c.-114-5124_-114-5068delATTCACTCCCCCCTCATTCAGATTCA CTCTGCCTCACTCACATTCTCTCCCCCTCAC		SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12						chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558952	GGCAGAGT others(50): Show GGCAGAGTGAATCTGAATGAGGGGGGAGTGAATGTGAGGGGGGAGAGAAT GTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01261.hp1 HG02015.hp2 others(6): Show HG00597.hp1 HG01261.hp1 HG02015.hp2 HG02148.hp2 HG03654.hp1 HG04228.hp2 NA18984.hp2 NA19005.hp1 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007	a0001c0002t0002g0085 a0001c0002t0002g0154 a0001c0002t0002g0177 others(6): Show a0001c0002t0002g0085 a0001c0002t0002g0154 a0001c0002t0002g0177 a0001c0002t0002g0183 a0001c0002t0004g0161 a0001c0002t0007g0016 a0001c0002t0007g0018 a0001c0002t0007g0020 a0001c0002t0007g0035	9	330	0.0273	-57	c.-11 others(76): Show c.-114-5149_-114-5093delTCACTCACATTCTCTCCCCCCTCACA TTCACTCCCCCCTCATTCAGATTCACTCTGC		SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12						chr13	TogoVar
SLC8A1_chr2_40092270_40457090	40253083	AATGTATA others(50): Show AATGTATATAGTATATATACATATATACGTGTATACATATATACACGTAT ATATGTAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00642.hp1 others(51): Show HG00408.hp2 HG00544.hp1 HG00642.hp1 HG00642.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01192.hp2 HG01884.hp1 HG01884.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02027.hp1 HG02055.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02615.hp2 HG02683.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03516.hp2 HG03654.hp1 HG04204.hp2 NA18522.hp2 NA18906.hp2 NA18950.hp2 NA18953.hp2 NA18957.hp2 NA18979.hp1 NA18982.hp1 NA18989.hp2 NA18993.hp1 NA19000.hp2 NA19010.hp2 NA19068.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(47): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0016 a0001c0001t0021 a0001c0001t0047 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0071 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0085 a0001c0001t0086 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0092 a0001c0001t0093 a0001c0001t0095 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0105 a0001c0001t0107 a0001c0001t0108 a0001c0001t0111 a0001c0001t0119 a0001c0001t0120 a0001c0001t0127 a0001c0001t0148 a0001c0001t0160 a0001c0001t0162 a0001c0001t0163 a0001c0001t0164 a0001c0001t0178 a0001c0001t0181 a0001c0001t0182 a0001c0001t0187 a0001c0001t0189	a0001c0001t0001g0154 a0001c0001t0003g0054 a0001c0001t0003g0212 others(51): Show a0001c0001t0001g0154 a0001c0001t0003g0054 a0001c0001t0003g0212 a0001c0001t0005g0020 a0001c0001t0005g0209 a0001c0001t0006g0136 a0001c0001t0012g0037 a0001c0001t0012g0038 a0001c0001t0016g0017 a0001c0001t0016g0152 a0001c0001t0021g0031 a0001c0001t0047g0011 a0001c0001t0059g0215 a0001c0001t0060g0042 a0001c0001t0061g0055 a0001c0001t0063g0053 a0001c0001t0064g0095 a0001c0001t0065g0065 a0001c0001t0071g0234 a0001c0001t0076g0148 a0001c0001t0077g0147 a0001c0001t0078g0066 a0001c0001t0079g0145 a0001c0001t0080g0082 a0001c0001t0085g0196 a0001c0001t0086g0025 a0001c0001t0088g0062 a0001c0001t0089g0140 a0001c0001t0090g0030 a0001c0001t0092g0135 a0001c0001t0093g0128 a0001c0001t0095g0221 a0001c0001t0099g0180 a0001c0001t0100g0236 a0001c0001t0101g0199 a0001c0001t0102g0100 a0001c0001t0103g0123 a0001c0001t0105g0045 a0001c0001t0107g0049 a0001c0001t0108g0024 a0001c0001t0111g0183 a0001c0001t0119g0121 a0001c0001t0120g0077 a0001c0001t0127g0150 a0001c0001t0148g0126 a0001c0001t0160g0010 a0001c0001t0162g0208 a0001c0001t0163g0193 a0001c0001t0164g0060 a0001c0001t0178g0014 a0001c0001t0181g0076 a0001c0001t0182g0040 a0001c0001t0187g0083 a0001c0001t0189g0118	54	236	0.2288	-57	c.180 others(78): Show c.1809-74647_1809-74591delATACATATATACGTGTATATATGT ATACACGTATATATGTATATATACTATATACAT		SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10						chr2	TogoVar
SLX9_chr21_44935029_44981973	44980974	GCTCTGAG others(50): Show GCTCTGAGGTTCTGGGGGACGTGAGTTTTGGGAAATCTCCAGTCTAGGGG GTGGTCTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	334	0.0030	-57	c.41 others(68): Show c.4172_*4228delCTCTGAGGTTCTGGGGGACGTGAGTTTTGGGAAA TCTCCAGTCTAGGGGGTGGTCTT		SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding					4002		chr21	TogoVar
SLX9_chr21_44935029_44981973	44981233	TGTTCCAG others(50): Show TGTTCCAGGGCCCGTGGGGTCGTCCACGCCGGCTCCCCTTGCCCACCCGG ACCTCTGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	334	0.0030	-57	c.44 others(68): Show c.4431_*4487delGTTCCAGGGCCCGTGGGGTCGTCCACGCCGGCTC CCCTTGCCCACCCGGACCTCTGG		SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding					4261		chr21	TogoVar
SMYD3_chr1_245744347_246512279	246071837	CTGTTAGT others(50): Show CTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCGCTGTGCTCACTGTCG CTGCATCG	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02300.hp1 HG02300.hp2 HG01175.hp1 HG02300.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0014 a0001c0001t0002g0045 a0001c0002t0001g0041 a0001c0001t0002g0014 a0001c0001t0002g0045 a0001c0002t0001g0041	3	150	0.0200	-57	c.532 others(78): Show c.532-141957_532-141901delCGATGCAGCGACAGTGAGCACAGC GGAAAGCACACGAATCCCTCCCCAGAACTAACA		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	246072174	ATCCTGTT others(50): Show ATCCTGTTAGTTCGGGGGAGGGATTCATGTGCTTTCCACTGTGCTCACTG TGGATGCT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp2 HG01175.hp1 others(2): Show HG00735.hp1 HG00738.hp2 HG01175.hp1 HG02300.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0046 a0001c0001t0002g0014 a0001c0001t0002g0045 others(2): Show a0001c0001t0001g0046 a0001c0001t0002g0014 a0001c0001t0002g0045 a0001c0001t0002g0052 a0001c0002t0001g0041	5	150	0.0333	-57	c.532 others(78): Show c.532-142294_532-142238delAGCATCCACAGTGAGCACAGTGGA AAGCACATGAATCCCTCCCCCGAACTAACAGGA		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SNTB2_chr16_69182164_69314052	69292367	TATATATA others(50): Show TATATATATATATTATATATATATTATATATATATATATATTATATATAT ATTATATA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0033 a0002c0005t0033	a0002c0005t0033g0073 a0002c0005t0033g0073	1	218	0.0046	-57	c.134 others(76): Show c.1346-7222_1346-7166delATATATATATATTATATATATATTAT ATATATATATATATTATATATATATTATATA		SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding	5/6						chr16	TogoVar
SORBS1_chr10_95306773_95566371	95368117	GCCCAATG others(50): Show GCCCAATGCAGAGCCCTTCATGCACCCCAAATGCCACATCCAGAGAGAGG GTCACCCA	G G	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0241 a0001c0003t0002g0241	1	300	0.0033	-57	c.190 others(74): Show c.1906-475_1906-419delTGGGTGACCCTCTCTCTGGATGTGGCAT TTGGGGTGCATGAAGGGCTCTGCATTGGG		SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	21/32						chr10	TogoVar
SORCS2_chr4_7187538_7747827	7386453	GTGCACGC others(50): Show GTGCACGCACACACATGCACACACATACACATTTGCACACACGCACACAC ATGCCCAC	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01175.hp1 HG01361.hp2 others(12): Show HG01167.hp1 HG01175.hp1 HG01361.hp2 HG01884.hp1 HG01891.hp1 HG02056.hp1 HG02109.hp2 HG02257.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02970.hp1 HG03239.hp2 HG04228.hp1 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0012	a0001c0001 a0001c0003 a0001c0005 others(7): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0015 a0001c0017 a0001c0028 a0002c0004 a0003c0042 a0012c0039	a0001c0001t0020 a0001c0001t0032 a0001c0001t0068 others(12): Show a0001c0001t0020 a0001c0001t0032 a0001c0001t0068 a0001c0003t0011 a0001c0003t0016 a0001c0003t0022 a0001c0005t0007 a0001c0006t0001 a0001c0006t0005 a0001c0015t0011 a0001c0017t0016 a0001c0028t0028 a0002c0004t0014 a0003c0042t0003 a0012c0039t0063	a0001c0001t0020g0052 a0001c0001t0032g0141 a0001c0001t0068g0007 others(12): Show a0001c0001t0020g0052 a0001c0001t0032g0141 a0001c0001t0068g0007 a0001c0003t0011g0080 a0001c0003t0016g0091 a0001c0003t0022g0043 a0001c0005t0007g0065 a0001c0006t0001g0054 a0001c0006t0005g0165 a0001c0015t0011g0002 a0001c0017t0016g0124 a0001c0028t0028g0152 a0002c0004t0014g0083 a0003c0042t0003g0066 a0012c0039t0063g0064	15	168	0.0893	-57	c.481 others(74): Show c.481-9834_481-9778delTGCACGCACACACATGCACACACATACA CATTTGCACACACGCACACACATGCCCAC		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26						chr4	TogoVar
SORCS2_chr4_7187538_7747827	7441908	CCCCCTCC others(50): Show CCCCCTCCCCCAGCCCAGATCACCCTCCACCCCCTCCCCCAGCCCAGATC ACCCTCCA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0001 a0001c0049t0001	a0001c0049t0001g0059 a0001c0049t0001g0059	1	168	0.0060	-57	c.548 others(76): Show c.548+45558_548+45614delTCCCCCAGCCCAGATCACCCTCCACC CCCTCCCCCAGCCCAGATCACCCTCCACCCC		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7442458	ATCCCCTC others(50): Show ATCCCCTCCCCCAGCCCAGATCACCCTCCACCCCCTCCCCCAGCCCAGAT CACCCTCC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0007 a0007	a0007c0027 a0007c0027	a0007c0027t0002 a0007c0027t0002	a0007c0027t0002g0116 a0007c0027t0002g0116	1	168	0.0060	-57	c.548 others(76): Show c.548+46104_548+46160delTCCCCTCCCCCAGCCCAGATCACCCT CCACCCCCTCCCCCAGCCCAGATCACCCTCC		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26						chr4	TogoVar
SPANXN1_chrX_145242503_145261208	145255850	CGAAGGCC others(50): Show CGAAGGCCTAGACTCAGCTGAAGGATCTTCAAAGCAGGATGAAGACCTAG ACTTACCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0014 a0002c0006t0014	a0002c0006t0014g0044 a0002c0006t0014g0044	1	334	0.0030	-57	c.99 others(65): Show c.99_*155delCCTAGACTCAGCTGAAGGATCTTCAAAGCAGGATGAA GACCTAGACTTACCTGAAGG		SPANXN1	ENSG00000203923.5	transcript	ENST00000370493.4	protein_coding	2/2				99	INFO_REALIGN_3_PRIME	chrX	TogoVar
SPATA6_chr1_48290373_48477204	48354739	TTGTTAGA others(50): Show TTGTTAGAAATTTGATAATGTTTACACTTGGAATAGCAGTAGCTGGCAGG AAACAAGA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0321 a0001c0001t0010g0321	1	322	0.0031	-57	c.119 others(74): Show c.1194+874_1194+930delTCTTGTTTCCTGCCAGCTACTGCTATTC CAAGTGTAAACATTATCAAATTTCTAACA		SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	11/12						chr1	TogoVar
SPINT4_chr20_45717347_45730830	45730773	CTCACTGC others(50): Show CTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCC TCCTGAGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02897.hp2 HG02965.hp1 HG03017.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03654.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0006t0002 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0006t0002 a0002c0002t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0009 others(64): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0122 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0003g0001 a0001c0001t0003g0008 a0001c0001t0003g0016 a0001c0001t0003g0020 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0121 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0006t0002g0148 a0002c0002t0002g0069	228	458	0.4978	-57	c.51 others(68): Show c.5139_*5195delTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAAT TCTCCTGCCTCAGCCTCCTGAGT		SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding					4944		chr20	TogoVar
SPRY3_chrX_155607586_155787459	155671553	GTCTCCAT others(50): Show GTCTCCATTTTGTATGTATGTATATATGTATGTATTTTTATATGTATGTA TGTATCTA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0093 a0001c0001t0039g0093	1	231	0.0043	-57	c.-28 others(78): Show c.-282+58909_-282+58965delTCCATTTTGTATGTATGTATATAT GTATGTATTTTTATATGTATGTATGTATCTATC		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SRPRA_chr11_126257938_126273895	126271594	GCTGAAGA others(50): Show GCTGAAGAAGCTGGAGAGCAGACGAGGTGCTATTCGAGTGCTAGTGGTGG AACGGGAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	-57	c.-28 others(68): Show c.-2847_-2791delGTCCCGTTCCACCACTAGCACTCGAATAGCACCT CGTCTGCTCTCCAGCTTCTTCAG		SRPRA	ENSG00000182934.12	transcript	ENST00000332118.11	protein_coding					2700		chr11	TogoVar
SRRD_chr22_26478877_26499658	26482525	TGGAACCC others(50): Show TGGAACCCAAATTAAGGAACTGTCATCTTGACAGTCCAAAAGTAACCTGA ACATGCAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0004	1	448	0.0022	-57	c.-13 others(68): Show c.-1365_-1309delGGAACCCAAATTAAGGAACTGTCATCTTGACAGT CCAAAAGTAACCTGAACATGCAG		SRRD	ENSG00000100104.13	transcript	ENST00000215917.11	protein_coding					1351		chr22	TogoVar
SSBP3_chr1_54220432_54411394	54240070	GTGTGTGT others(50): Show GTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGTGTGCGTGCGCGCGCGCGC GCAACACA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18906.hp1 HG03579.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0031 a0001c0002t0002 a0001c0002t0031	a0001c0002t0002g0083 a0001c0002t0031g0110 a0001c0002t0002g0083 a0001c0002t0031g0110	2	280	0.0071	-57	c.856 others(72): Show c.856+778_856+834delTGTGTTGCGCGCGCGCGCGCACGCACACGC GCGCGCGCGCACACACACACACACACA		SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	13/17						chr1	TogoVar
SSC5D_chr19_55483436_55524099	55517836	CCACCACC others(50): Show CCACCACCATCACTCACTCCACCATGATTCCTGACCCCACCACAACCCCT CAACCCTT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03579.hp2 NA18956.hp2 NA18995.hp2 HG03579.hp2 NA18956.hp2 NA18995.hp2	a0027 a0042 a0027 a0042	a0027c0034 a0042c0065 a0027c0034 a0042c0065	a0027c0034t0002 a0042c0065t0002 a0027c0034t0002 a0042c0065t0002	a0027c0034t0002g0032 a0027c0034t0002g0037 a0042c0065t0002g0218 a0027c0034t0002g0032 a0027c0034t0002g0037 a0042c0065t0002g0218	3	412	0.0073	-57	c.362 others(66): Show c.3627_3683delCACTCACTCCACCATGATTCCTGACCCCACCACAAC CCCTCAACCCTTCACCACCAT	p.Ile others(15): Show p.Ile1209_Thr1227del	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	14/14	3781/4977	3627/4722	1209/1573		INFO_REALIGN_3_PRIME	chr19	TogoVar
ST6GAL1_chr3_186925526_187083553	186984764	CTCCTTCC others(50): Show CTCCTTCCTTCCTTCCCTTCCTCCCTTCCTTCCTTCCTTCCATCCTTCCT TCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01928.hp2 HG02300.hp1 others(2): Show HG00280.hp2 HG01928.hp2 HG02300.hp1 HG03927.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0020 a0001c0001t0001 a0001c0001t0002 a0001c0002t0020	a0001c0001t0001g0193 a0001c0001t0001g0228 a0001c0001t0001g0230 others(2): Show a0001c0001t0001g0193 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0002g0332 a0001c0002t0020g0309	5	362	0.0138	-57	c.-18 others(78): Show c.-183+20846_-183+20902delTTCCTTCCCTTCCTCCCTTCCTTC CTTCCTTCCATCCTTCCTTCCTTCCTTCCTTCC		ST6GAL1	ENSG00000073849.16	transcript	ENST00000169298.8	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36398540	AGGTAAAG others(50): Show AGGTAAAGAGAAAGAGAGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGG	A A	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0036 a0001c0002t0003g0036	1	316	0.0032	-57	c.111 others(76): Show c.111+17787_111+17843delGGTAAAGAGAAAGAGAGAGGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG		STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	1/10						chr3	TogoVar
STAC_chr3_36375504_36553007	36398575	AGGAAGGA others(50): Show AGGAAGGAAGGAAGGAAGGAAGGAAGAAAGGAAGGAGGGAAGGAAGAGAA AAAGAGAG	A A	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19070.hp2 NA19068.hp1 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0003 a0001c0002t0005	a0001c0002t0003g0038 a0001c0002t0005g0037 a0001c0002t0003g0038 a0001c0002t0005g0037	2	316	0.0063	-57	c.111 others(76): Show c.111+17822_111+17878delGGAAGGAAGGAAGGAAGGAAGGAAGA AAGGAAGGAGGGAAGGAAGAGAAAAAGAGAG		STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	1/10						chr3	TogoVar
STARD13_chr13_33098137_33290755	33177904	AAGGAAAG others(50): Show AAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AAGGAAGG	A A	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0264 a0002c0003t0003g0264	1	302	0.0033	-57	c.170 others(76): Show c.170-10339_170-10283delCCTTCCTTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTTCCT		STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13						chr13	TogoVar
STIM1_chr11_3850664_4098208	3895679	CTTCCTTC others(50): Show CTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0017 a0001c0014t0017	a0001c0014t0017g0093 a0001c0014t0017g0093	1	300	0.0033	-57	c.139 others(76): Show c.139+39273_139+39329delCCTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTT		STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM1_chr11_3850664_4098208	3895682	CCTTCTTT others(50): Show CCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0099 a0001c0002t0017g0099	1	300	0.0033	-57	c.139 others(76): Show c.139+39277_139+39333delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTTTCTT		STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
STK10_chr5_172037079_172193224	172189830	GAGAGAAA others(50): Show GAGAGAAAGAAAGAAAGAGAAAGGGAAAGGAAAGGAAGAAAGAGAGAAAG GAAAGAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG03139.hp2 others(1): Show HG02257.hp1 HG02451.hp1 HG03139.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0001c0011	a0001c0002t0018 a0001c0003t0020 a0001c0004t0021 others(1): Show a0001c0002t0018 a0001c0003t0020 a0001c0004t0021 a0001c0011t0019	a0001c0002t0018g0005 a0001c0003t0020g0003 a0001c0004t0021g0004 others(1): Show a0001c0002t0018g0005 a0001c0003t0020g0003 a0001c0004t0021g0004 a0001c0011t0019g0002	4	232	0.0172	-57	c.-18 others(68): Show c.-1845_-1789delTCTCTTTCCTTTCTCTCTTTCTTCCTTTCCTTTC CCTTTCTCTTTCTTTCTTTCTCT		STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding					1607		chr5	TogoVar
STK11_chr19_1200778_1233431	1208175	ACCTTGGA others(50): Show ACCTTGGAAGGAGGTCCGGGGAGGGGCTGCTGCGGTGTCTGCTCTCACCT TCCTCCTG	A A	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA19060.hp1 NA18940.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	2	406	0.0049	-57	c.290 others(73): Show c.290+974_290+1030delCTTGGAAGGAGGTCCGGGGAGGGGCTGCT GCGGTGTCTGCTCTCACCTTCCTCCTGC		STK11	ENSG00000118046.17	transcript	ENST00000326873.12	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
STK3_chr8_98449633_98830688	98825837	CGCCCCGC others(50): Show CGCCCCGCCCCGCCCCCGGCCGCCCCGCCCCGCCCCCGGCCGCGCCGGCC GCCAGCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01175.hp2 HG01943.hp1 others(11): Show HG00544.hp2 HG01175.hp2 HG01943.hp1 HG02074.hp1 HG02559.hp1 HG02735.hp2 HG02922.hp2 HG03195.hp1 NA18612.hp1 NA18906.hp1 NA18945.hp1 NA18945.hp2 NA19009.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0002t0002	a0001c0001t0001g0083 a0001c0001t0001g0094 a0001c0001t0001g0108 others(11): Show a0001c0001t0001g0083 a0001c0001t0001g0094 a0001c0001t0001g0108 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0158 a0001c0001t0002g0070 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0117 a0001c0001t0005g0127 a0001c0001t0006g0170 a0001c0002t0002g0065	14	170	0.0824	-57	c.-35 others(66): Show c.-354_-298delAGGCTGGCGGCCGGCGCGGCCGGGGGCGGGGCGGGG CGGCCGGGGGCGGGGCGGGGC		STK3	ENSG00000104375.17	transcript	ENST00000419617.7	protein_coding					150		chr8	TogoVar
STMN3_chr20_63634712_63658424	63650661	ACCCGGGT others(50): Show ACCCGGGTGGATGGTGCCCGCTCCCAGGGTCACACCTCACGCCCACCCCT CCCGCCCG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG02083.hp2 others(4): Show HG00597.hp1 HG00609.hp2 HG02083.hp2 NA18972.hp1 NA18973.hp2 NA19002.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 a0001c0001t0020	a0001c0001t0002g0031 a0001c0001t0002g0143 a0001c0001t0002g0144 others(3): Show a0001c0001t0002g0031 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0004g0141 a0001c0001t0015g0142 a0001c0001t0020g0140	7	388	0.0180	-57	c.19+ others(72): Show c.19+2609_19+2665delCGGGCGGGAGGGGTGGGCGTGAGGTGTGAC CCTGGGAGCGGGCACCATCCACCCGGG		STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding	1/4						chr20	TogoVar
STRIT1_chr3_155285227_155298683	155294375	TTCATTTT others(50): Show TTCATTTTTCAAAGTCCAAACTGGTTTATGTAACTGACCTAGACTATTCT CTATATTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0006 a0001c0001t0007g0006	1	444	0.0023	-57	c.-80 others(66): Show c.-800_-744delGAATATAGAGAATAGTCTAGGTCAGTTACATAAACC AGTTTGGACTTTGAAAAATGA		STRIT1	ENSG00000240045.2	transcript	ENST00000489090.2	protein_coding					693		chr3	TogoVar
SULT4A1_chr22_43819509_43867513	43822742	AGTGTGTG others(50): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTCAGTGCTATGGCAAGAAGTGTGT GTGTGTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02572.hp2 HG03139.hp2 HG02109.hp2 HG02572.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0021 a0001c0001t0015 a0001c0001t0021	a0001c0001t0015g0107 a0001c0001t0015g0129 a0001c0001t0021g0083 a0001c0001t0015g0107 a0001c0001t0015g0129 a0001c0001t0021g0083	3	386	0.0078	-57	c.32 others(68): Show c.3202_*3258delACACACACACACACTTCTTGCCATAGCACTGACA CACACACACACACACACACACAC		SULT4A1	ENSG00000130540.14	transcript	ENST00000330884.9	protein_coding					1766		chr22	TogoVar
SUV39H2_chr10_14873866_14909315	14909026	GGGTACAT others(50): Show GGGTACATCCCCATCAGCCTTTTGCAGGTGAAGTACAGAGCCCAGATCTC CTTGCAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	420	0.0024	-57	c.65 others(68): Show c.6515_*6571delGGTACATCCCCATCAGCCTTTTGCAGGTGAAGTA CAGAGCCCAGATCTCCTTGCAGT		SUV39H2	ENSG00000152455.16	transcript	ENST00000354919.11	protein_coding					4712		chr10	TogoVar
SVEP1_chr9_110360248_110584741	110405250	AATATGTA others(50): Show AATATGTATTATGAATACCTACATGGACTCAGATACTAGTAGGAATACAG CATAATTC	A A	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0339 a0003c0004t0001g0339	1	362	0.0028	-57	c.944 others(74): Show c.9441-755_9441-699delGAATTATGCTGTATTCCTACTAGTATCT GAGTCCATGTAGGTATTCATAATACATAT		SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	38/47						chr9	TogoVar
SYNE1_chr6_152116687_152642362	152633603	TCTGCTAT others(50): Show TCTGCTATTTGGGATGCTCCCAGTTGAAAGGCATACTCTTCTTAGGAATT TGGACTAC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03486.hp1 NA19043.hp1 HG02976.hp2 HG03486.hp1 NA19043.hp1	a0080 a0092 a0117 a0080 a0092 a0117	a0080c0166 a0092c0012 a0117c0013 a0080c0166 a0092c0012 a0117c0013	a0080c0166t0002 a0092c0012t0004 a0117c0013t0004 a0080c0166t0002 a0092c0012t0004 a0117c0013t0004	a0080c0166t0002g0055 a0092c0012t0004g0054 a0117c0013t0004g0053 a0080c0166t0002g0055 a0092c0012t0004g0054 a0117c0013t0004g0053	3	174	0.0172	-57	c.-22 others(76): Show c.-224+2978_-224+3034delGTAGTCCAAATTCCTAAGAAGAGTAT GCCTTTCAACTGGGAGCATCCCAAATAGCAG		SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	2/145						chr6	TogoVar
TAB3_chrX_30822442_30894254	30868510	ATATAGCT others(50): Show ATATAGCTTATATATATATATATATAGCTTATATATATATATATATATAT ATATAGCT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA18965.hp1 NA18969.hp1 others(5): Show HG01891.hp2 NA18965.hp1 NA18969.hp1 NA18978.hp1 NA18987.hp2 NA18998.hp2 NA18999.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0014	a0001c0001t0003g0243 a0001c0001t0005g0214 a0001c0001t0005g0218 others(5): Show a0001c0001t0003g0243 a0001c0001t0005g0214 a0001c0001t0005g0218 a0001c0001t0005g0219 a0001c0001t0005g0220 a0001c0001t0005g0234 a0001c0001t0007g0273 a0001c0001t0014g0235	8	302	0.0265	-57	c.-27 others(75): Show c.-279-1018_-279-962delAGCTATATATATATATATATATATATA TAAGCTATATATATATATATATAAGCTATA		TAB3	ENSG00000157625.16	transcript	ENST00000288422.4	protein_coding	2/10						chrX	TogoVar
TAF11L4_chr5_17516801_17527397	17526304	TCACCACG others(50): Show TCACCACGAAAACAGTTAAACTGATCAACCGTTTTCCAAACTGCAGACAC CAAAATGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	352	0.0028	-57	c.39 others(68): Show c.3908_*3964delCACCACGAAAACAGTTAAACTGATCAACCGTTTT CCAAACTGCAGACACCAAAATGA		TAF11L4	ENSG00000284283.1	transcript	ENST00000638408.1	protein_coding					3908		chr5	TogoVar
TARS3_chr15_101648596_101729473	101654999	GCACCTGG others(50): Show GCACCTGGCACTAGGGCGCAAATGAGAGCGGGGAGCTCTTACAGGCTCAC AGTGACCC	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0153 a0002c0002t0001g0153	1	278	0.0036	-57	c.226 others(74): Show c.2261-326_2261-270delGGGTCACTGTGAGCCTGTAAGAGCTCCC CGCTCTCATTTGCGCCCTAGTGCCAGGTG		TARS3	ENSG00000185418.16	transcript	ENST00000335968.8	protein_coding	18/18						chr15	TogoVar
TARS3_chr15_101648596_101729473	101655198	CGGGGAGC others(50): Show CGGGGAGCTCTTACAGGCTCACACTGACCCCACCTGGCACTAGGGTGCAA ATGAGAGG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02132.hp2 HG00408.hp1 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0090 a0001c0001t0002g0086 a0001c0001t0002g0090	2	278	0.0072	-57	c.226 others(74): Show c.2261-525_2261-469delCCTCTCATTTGCACCCTAGTGCCAGGTG GGGTCAGTGTGAGCCTGTAAGAGCTCCCC		TARS3	ENSG00000185418.16	transcript	ENST00000335968.8	protein_coding	18/18						chr15	TogoVar

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