Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SCARB1_chr12_124771856_124868864	124817046	GTGTATGT others(47): Show GTGTATGTGTGTATGCATGTGTAGGTACATGTGTGTGTATGTATGTGTGT GTGTA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0163 a0001c0002t0003g0163	1	356	0.0028	-54	c.284 others(69): Show c.284+450_284+503delTACACACACACATACATACACACACATGTA CCTACACATGCATACACACATACA	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	2/12			chr12	TogoVar
SCG3_chr15_51676503_51726026	51691911	CCCCTGAG others(47): Show CCCCTGAGCAGGAGCTGGGGTCTTCAGGGGGTTTTCCCTGAGGTAGAGCA CCTTT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01884.hp1 others(2): Show HG01256.hp2 HG01258.hp2 HG01884.hp1 HG02809.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0005 a0001c0001t0008g0048 a0001c0001t0008g0049 others(1): Show a0001c0001t0008g0005 a0001c0001t0008g0048 a0001c0001t0008g0049 a0001c0001t0008g0050	5	402	0.0124	-54	c.691 others(69): Show c.691-239_691-186delAGGAGCTGGGGTCTTCAGGGGGTTTTCCCT GAGGTAGAGCACCTTTCCCTGAGC	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB1C1_chr11_188078_199575	196521	ACCTGGTG others(47): Show ACCTGGTGAGGAGGACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGA GGAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00423.hp2 others(107): Show HG00099.hp2 HG00408.hp2 HG00423.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG01071.hp2 HG01081.hp2 HG01123.hp2 HG01175.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01515.hp1 HG01517.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02145.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03490.hp2 HG03492.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18942.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18952.hp2 NA18953.hp1 NA18957.hp2 NA18959.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp2 NA18972.hp2 NA18977.hp2 NA18979.hp2 NA18981.hp2 NA18983.hp2 NA18987.hp2 NA18992.hp1 NA18992.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19075.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0005 a0001c0003 a0001c0004 a0001c0005	a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001	a0001c0003t0001g0003 a0001c0003t0001g0015 a0001c0004t0001g0009 others(3): Show a0001c0003t0001g0003 a0001c0003t0001g0015 a0001c0004t0001g0009 a0001c0005t0001g0004 a0001c0005t0001g0010 a0001c0005t0001g0016	110	354	0.3107	-54	c.20 others(65): Show c.2072_*2125delCCTGGTGAGGAGGACATGGGTGGGGAGCCTTGGT GAGGGGACCTGGTGAGGAGG	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1947		chr11	TogoVar
SCN11A_chr3_38840764_39056944	38963370	TATATATA others(47): Show TATATATATATATATATGATGGAGATATATATATATATATATATATATGA TGGAG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01070.hp2 HG01071.hp2 others(14): Show HG00323.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01167.hp1 HG01891.hp1 HG01981.hp2 HG02015.hp1 HG02129.hp1 HG02602.hp2 HG02630.hp1 HG03654.hp1 NA18978.hp2 NA18986.hp1 NA18991.hp2 NA19087.hp2 NA19090.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0002 a0001c0007 a0003c0004 others(1): Show a0001c0002 a0001c0007 a0003c0004 a0006c0022	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(4): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0007t0005 a0003c0004t0001 a0003c0004t0012 a0006c0022t0001	a0001c0002t0001g0148 a0001c0002t0001g0152 a0001c0002t0001g0155 others(14): Show a0001c0002t0001g0148 a0001c0002t0001g0152 a0001c0002t0001g0155 a0001c0002t0001g0165 a0001c0002t0001g0167 a0001c0002t0002g0156 a0001c0002t0004g0262 a0001c0007t0005g0301 a0003c0004t0001g0212 a0003c0004t0001g0214 a0003c0004t0001g0216 a0003c0004t0001g0223 a0003c0004t0001g0224 a0003c0004t0001g0233 a0003c0004t0001g0235 a0003c0004t0012g0234 a0006c0022t0001g0198	17	314	0.0541	-54	c.-27 others(73): Show c.-279-3001_-279-2948delCTCCATCATATATATATATATATATA TATATCTCCATCATATATATATATATAT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN9A_chr2_166190185_166380944	166191680	TACACACA others(47): Show TACACACACATATATATATATGTATATATATATATATACACACATATATA TATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0259 a0001c0007t0005g0259	1	296	0.0034	-54	c.69 others(65): Show c.6938_*6991delGTATATATATATGTGTGTATATATATATATATAC ATATATATATATGTGTGTGT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding		3504		chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1288264	TCTGCTCC others(47): Show TCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCG TGTCC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0004 a0008c0007t0004	a0008c0007t0004g0287 a0008c0007t0004g0287	1	290	0.0035	-54	c.166 others(71): Show c.1662+240_1662+293delCCGAGTCTCTGCTCCGTCCCGTGTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288356	TCTGCTCC others(47): Show TCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCG TGTCC	T T	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	290	0.0035	-54	c.166 others(71): Show c.1662+355_1662+408delCCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288665	CCGTGTCT others(47): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGC TCCGT	C C	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0035	1	290	0.0035	-54	c.166 others(71): Show c.1662+630_1662+683delGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCCCGAGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288701	CCCCGAGT others(47): Show CCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0050 a0009c0014t0001g0050	1	290	0.0035	-54	c.166 others(71): Show c.1662+669_1662+722delAGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288999	CCGTGTCT others(47): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGC TCCGT	C C	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0041	1	290	0.0035	-54	c.166 others(72): Show c.1662+964_1662+1017delGTGTCTCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCCCGAGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289093	CCCCGTGT others(47): Show CCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC CCCGT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0004 a0008c0007t0004	a0008c0007t0004g0287 a0008c0007t0004g0287	1	290	0.0035	-54	c.166 others(73): Show c.1662+1078_1663-1103delGTGTCCCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCCCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289498	TCTGCTCC others(47): Show TCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCG TGTCC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0007 a0006c0010t0007	a0006c0010t0007g0273 a0006c0010t0007g0273	1	290	0.0035	-54	c.166 others(71): Show c.1663-760_1663-707delCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289635	CCGTGTCT others(47): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGC TCCGT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0007 a0006c0010t0007	a0006c0010t0007g0274 a0006c0010t0007g0274	1	290	0.0035	-54	c.166 others(71): Show c.1663-634_1663-581delGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCCCGAGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289955	TCTGCTCC others(47): Show TCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCG TGTCC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02976.hp2 NA18747.hp1 others(1): Show HG00544.hp1 HG02976.hp2 NA18747.hp1 NA18969.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0008 a0002c0002 a0004c0008	a0002c0002t0001 a0004c0008t0001 a0002c0002t0001 a0004c0008t0001	a0002c0002t0001g0052 a0002c0002t0001g0059 a0002c0002t0001g0085 others(1): Show a0002c0002t0001g0052 a0002c0002t0001g0059 a0002c0002t0001g0085 a0004c0008t0001g0240	4	290	0.0138	-54	c.166 others(71): Show c.1663-303_1663-250delCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCTR_chr2_119434843_119529483	119444791	GAATATAT others(47): Show GAATATATATACACATATATTCGTACGAATATATATACACATATATTCGT ACGAA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0002 a0008c0013t0002	a0008c0013t0002g0223 a0008c0013t0002g0223	1	290	0.0035	-54	c.114 others(73): Show c.1140+1914_1140+1967delTTCGTACGAATATATGTGTATATATA TTCGTACGAATATATGTGTATATATATT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SDCCAG8_chr1_243251041_243505091	243338980	AGACCTCA others(47): Show AGACCTCAGAAAGTGGGGTGGGCGGCAGGAGGGAGCAGACAGCTAGTGGG CAGAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00423.hp2 others(63): Show HG00140.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00738.hp2 HG01071.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01496.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02056.hp1 HG02056.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03579.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp2 NA18940.hp2 NA18946.hp1 NA18959.hp2 NA18970.hp2 NA18982.hp2 NA18994.hp1 NA19000.hp2 NA19007.hp1 NA19007.hp2 NA19043.hp2 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19240.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0009 others(4): Show a0001c0001 a0001c0002 a0001c0009 a0002c0003 a0002c0004 a0003c0010 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0009t0001 a0002c0003t0001 a0002c0004t0001 a0003c0010t0001 a0006c0006t0001	a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 others(63): Show a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0163 a0001c0001t0002g0099 a0001c0001t0002g0103 a0001c0002t0001g0117 a0001c0002t0001g0140 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0072 a0001c0002t0002g0074 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0084 a0001c0002t0002g0091 a0001c0002t0002g0094 a0001c0002t0002g0096 a0001c0002t0002g0101 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0113 a0001c0002t0002g0118 a0001c0002t0003g0111 a0001c0009t0001g0188 a0002c0003t0001g0129 a0002c0003t0001g0131 a0002c0003t0001g0132 a0002c0003t0001g0136 a0002c0003t0001g0141 a0002c0003t0001g0144 a0002c0003t0001g0147 a0002c0003t0001g0148 a0002c0003t0001g0157 a0002c0003t0001g0164 a0002c0003t0001g0173 a0002c0003t0001g0175 a0002c0004t0001g0143 a0002c0004t0001g0153 a0003c0010t0001g0133 a0006c0006t0001g0067	66	189	0.3492	-54	c.122 others(73): Show c.1222-1948_1222-1895delCCTCAGAAAGTGGGGTGGGCGGCAGG AGGGAGCAGACAGCTAGTGGGCAGAGGA	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	4095226	CTCTTCCT others(47): Show CTCTTCCTCAGCTCCCCCACATCTGAGCTCTTCCTCAGCTCCCCCATATC TGAGG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02622.hp1 HG03139.hp1 others(1): Show HG01109.hp2 HG02622.hp1 HG03139.hp1 HG03540.hp2	a0001 a0015 a0001 a0015	a0001c0011 a0001c0067 a0001c0087 others(1): Show a0001c0011 a0001c0067 a0001c0087 a0015c0085	a0001c0011t0039 a0001c0067t0068 a0001c0087t0009 others(1): Show a0001c0011t0039 a0001c0067t0068 a0001c0087t0009 a0015c0085t0043	a0001c0011t0039g0061 a0001c0067t0068g0001 a0001c0087t0009g0054 others(1): Show a0001c0011t0039g0061 a0001c0067t0068g0001 a0001c0087t0009g0054 a0015c0085t0043g0010	4	116	0.0345	-54	c.332 others(75): Show c.3325-15383_3325-15330delGTCTTCCTCAGCTCCCCCACATCT GAGCTCTTCCTCAGCTCCCCCATATCTGAG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73412024	ATGTATAT others(47): Show ATGTATATATACGTATATATATGTATATACGTATATGTATATATACGTAT ATATG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02630.hp1 HG02717.hp1 HG02055.hp2 HG02630.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0010 a0001c0005t0048 a0001c0005t0050 a0001c0002t0010 a0001c0005t0048 a0001c0005t0050	a0001c0002t0010g0181 a0001c0005t0048g0145 a0001c0005t0050g0032 a0001c0002t0010g0181 a0001c0005t0048g0145 a0001c0005t0050g0032	3	204	0.0147	-54	c.248 others(73): Show c.2484+2566_2484+2619delCATATATACGTATATATACATATACG TATATACATATATATACGTATATATACA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	18/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73500718	TCCTCTGT others(47): Show TCCTCTGTCCATCCTCCCTCCATTCTCCTCCATCCTCCATCCATCCTTCC TCTAG	T T	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0003 a0003	a0003c0088 a0003c0088	a0003c0088t0012 a0003c0088t0012	a0003c0088t0012g0174 a0003c0088t0012g0174	1	204	0.0049	-54	c.224 others(71): Show c.224+6666_224+6719delCTAGAGGAAGGATGGATGGAGGATGGAG GAGAATGGAGGGAGGATGGACAGAGG	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44			chr17	TogoVar
SEC23A_chr14_39026919_39108235	39094229	TATATATA others(47): Show TATATATATGCATATATACACATATACATATATATGCATATATACACATA TACAC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01123.hp1 NA18999.hp1 others(1): Show HG01099.hp1 HG01123.hp1 NA18999.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0141 a0001c0001t0001g0165 a0001c0005t0001g0142 others(1): Show a0001c0001t0001g0141 a0001c0001t0001g0165 a0001c0005t0001g0142 a0001c0005t0001g0143	4	366	0.0109	-54	c.222 others(70): Show c.222-1039_222-986delGTGTATATGTGTATATATGCATATATATG TATATGTGTATATATGCATATATAT	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SENP3_chr17_7556919_7576969	7571858	TATATATA others(47): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02683.hp1 NA18947.hp2 HG02683.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0093 a0001c0001t0092 a0001c0001t0093	a0001c0001t0092g0001 a0001c0001t0093g0059 a0001c0001t0092g0001 a0001c0001t0093g0059	2	446	0.0045	-54	c.38 others(63): Show c.383_*436delTATATATATATATATATATATATATATATATATATA TATATATAAAAATATATA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	383	INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77484694	ATTGTGAT others(47): Show ATTGTGATGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGTGGTGGT GGTGG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp1 HG02630.hp1 others(1): Show HG02145.hp2 HG02572.hp1 HG02630.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0023 a0001c0001t0048 a0001c0001t0056 others(1): Show a0001c0001t0023 a0001c0001t0048 a0001c0001t0056 a0002c0002t0004	a0001c0001t0023g0012 a0001c0001t0048g0149 a0001c0001t0056g0018 others(1): Show a0001c0001t0023g0012 a0001c0001t0048g0149 a0001c0001t0056g0018 a0002c0002t0004g0014	4	150	0.0267	-54	c.913 others(71): Show c.913+2407_913+2460delGTGGTGGTTGTGATGGTGGTGATGTGGG TGGTGGTGGTGATTGTGATGGTGGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77484694	ATTGTGAT others(47): Show ATTGTGATGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGTGGTGGT GGTGG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp1 HG02630.hp1 others(1): Show HG02145.hp2 HG02572.hp1 HG02630.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0002c0002t0003	a0001c0001t0005g0084 a0001c0001t0006g0116 a0001c0001t0007g0105 others(1): Show a0001c0001t0005g0084 a0001c0001t0006g0116 a0001c0001t0007g0105 a0002c0002t0003g0085	4	158	0.0253	-54	c.859 others(71): Show c.859+2407_859+2460delGTGGTGGTTGTGATGGTGGTGATGTGGG TGGTGGTGGTGATTGTGATGGTGGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEZ6L_chr22_26164462_26388596	26294879	TTCTTTCT others(47): Show TTCTTTCTTTCTTGCTTGCTTGCTTGCTTCCTGCTTTCTTGCTTCTTTCT CTTTC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0184 a0002c0005t0004g0184	1	240	0.0042	-54	c.969 others(69): Show c.969+467_969+520delGCTTGCTTGCTTGCTTCCTGCTTTCTTGCT TCTTTCTCTTTCTCTTTCTTTCTT	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGTA_chr19_2749715_2788273	2761681	AACCGCCC others(47): Show AACCGCCCGGGGACGGCACAGTCTGTCATCCCGTGTTTATTCCCCGCACA GCGCG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0058 a0001c0003t0003g0058	1	396	0.0025	-54	c.637 others(69): Show c.637-213_637-160delCGCGCTGTGCGGGGAATAAACACGGGATGA CAGACTGTGCCGTCCCCGGGCGGT	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	7/11			chr19	TogoVar
SGTA_chr19_2749715_2788273	2761705	GTCATCCC others(47): Show GTCATCCCGTGTTTATTCCCCGCACAGCGCGACCGCCCGGGGACGGCACA GTCTA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp2 HG02258.hp1 others(9): Show HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02809.hp2 HG03130.hp1 HG03130.hp2 HG03516.hp1 HG03927.hp2 NA18522.hp1 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0001c0009	a0001c0001t0001 a0001c0003t0003 a0001c0003t0008 others(3): Show a0001c0001t0001 a0001c0003t0003 a0001c0003t0008 a0001c0003t0016 a0001c0006t0004 a0001c0009t0010	a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0003t0003g0013 others(7): Show a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0003t0003g0013 a0001c0003t0003g0056 a0001c0003t0008g0012 a0001c0003t0008g0041 a0001c0003t0016g0044 a0001c0006t0004g0183 a0001c0006t0004g0186 a0001c0009t0010g0179	12	396	0.0303	-54	c.637 others(69): Show c.637-237_637-184delTAGACTGTGCCGTCCCCGGGCGGTCGCGCT GTGCGGGGAATAAACACGGGATGA	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	7/11			chr19	TogoVar
SGTA_chr19_2749715_2788273	2761835	CACAGCGC others(47): Show CACAGCGCGACCGCCCGGGGACGGCACAGTCTATCATCCCGTGTTTATTC CCCGT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02559.hp2 HG02572.hp1 others(6): Show HG01109.hp2 HG02559.hp2 HG02572.hp1 HG02723.hp1 HG02818.hp1 HG02965.hp1 HG03195.hp1 HG03209.hp2 HG03471.hp1	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0002 a0001c0007t0003 a0001c0007t0014 others(1): Show a0001c0005t0002 a0001c0007t0003 a0001c0007t0014 a0001c0007t0015	a0001c0005t0002g0034 a0001c0005t0002g0069 a0001c0005t0002g0070 others(6): Show a0001c0005t0002g0034 a0001c0005t0002g0069 a0001c0005t0002g0070 a0001c0005t0002g0336 a0001c0005t0002g0337 a0001c0005t0002g0338 a0001c0007t0003g0174 a0001c0007t0014g0178 a0001c0007t0015g0175	9	396	0.0227	-54	c.637 others(69): Show c.637-367_637-314delACGGGGAATAAACACGGGATGATAGACTGT GCCGTCCCCGGGCGGTCGCGCTGT	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	7/11			chr19	TogoVar
SGTA_chr19_2749715_2788273	2761880	TATTCCCC others(47): Show TATTCCCCGTACAGCGCGACCGCCCGGGGACGGCACAGTCTATCATCCCG TGTTG	T T	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18957.hp1 NA18990.hp2 NA18953.hp1 NA18957.hp1 NA18990.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0017 a0001c0004t0003 a0001c0004t0017	a0001c0004t0003g0040 a0001c0004t0003g0147 a0001c0004t0017g0148 a0001c0004t0003g0040 a0001c0004t0003g0147 a0001c0004t0017g0148	3	396	0.0076	-54	c.637 others(69): Show c.637-412_637-359delCAACACGGGATGATAGACTGTGCCGTCCCC GGGCGGTCGCGCTGTACGGGGAAT	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	7/11			chr19	TogoVar
SH2D3A_chr19_6747160_6772435	6769771	CTGGGAGG others(47): Show CTGGGAGGCAGAGGTTGCTGTGGGCAGAGATTGCACCATTGCACTCTAGC CTGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	380	0.0026	-54	c.-25 others(65): Show c.-2507_-2454delCCCAGGCTAGAGTGCAATGGTGCAATCTCTGCCC ACAGCAACCTCTGCCTCCCA	SH2D3A	ENSG00000125731.13	transcript	ENST00000245908.11	protein_coding		2337		chr19	TogoVar
SH3BGR_chr21_39446970_39520504	39510408	CACACACA others(47): Show CACACACACACACACTGTAGCTACACACACACACACACACACACACACTG TAGCT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG02630.hp1 others(1): Show HG00642.hp1 HG00735.hp2 HG02630.hp1 HG02717.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0242 a0003c0003t0004g0244 a0003c0003t0004g0280 others(1): Show a0003c0003t0004g0242 a0003c0003t0004g0244 a0003c0003t0004g0280 a0003c0003t0004g0281	4	302	0.0133	-54	c.436 others(71): Show c.436-1257_436-1204delTGTAGCTACACACACACACACACACACA CACACTGTAGCTACACACACACACAC	SH3BGR	ENSG00000185437.16	transcript	ENST00000333634.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr21	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368472	ATATATAT others(47): Show ATATATATATAAAATATATATATATTATATATATATATATAAAATATATA TATAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0007 a0001c0001t0033g0007	1	280	0.0036	-54	c.427 others(71): Show c.427+5264_427+5317delATATATATATATTTTATATATATATATA TAATATATATATATTTTATATATATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SHC2_chr19_411589_466033	431421	TTAGAGGA others(47): Show TTAGAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTG AGAGA	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02055.hp1 HG02258.hp2 HG01978.hp1 HG02055.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0180 a0001c0001t0003g0004 a0001c0001t0003g0180	3	212	0.0142	-54	c.111 others(71): Show c.1111-728_1111-675delTCTCTCACTCACGATCTCACTCACGATG AAGCGCCATCTGCCCGGCCTCCTCTA	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	432874	TAGATGGC others(47): Show TAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGC CGGGC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0070 a0001c0001t0016g0070	1	212	0.0047	-54	c.111 others(73): Show c.1110+1781_1110+1834delGCCCGGCCTCCTCTAACTCTCACTCA CGATCTCACTCACGATGAAGCGCCATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	433504	TAGATGGC others(47): Show TAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGC CGGGC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01978.hp1 HG02055.hp1 others(4): Show HG01891.hp2 HG01978.hp1 HG02055.hp1 HG02258.hp2 HG02622.hp2 HG03579.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0018 a0001c0001 a0001c0013 a0001c0018	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0013t0005 a0001c0018t0006	a0001c0001t0002g0039 a0001c0001t0003g0004 a0001c0001t0003g0180 others(3): Show a0001c0001t0002g0039 a0001c0001t0003g0004 a0001c0001t0003g0180 a0001c0001t0005g0168 a0001c0013t0005g0007 a0001c0018t0006g0179	7	212	0.0330	-54	c.111 others(73): Show c.1110+1151_1110+1204delGCCCGGCCTCCTCTAACTCTCACTCA CGATCTCACTCACGATGAAGCGCCATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHISA9_chr16_12896598_13245416	12943312	TGTGTGTG others(47): Show TGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01496.hp1 HG02559.hp1 others(2): Show HG01167.hp2 HG01496.hp1 HG02559.hp1 HG03710.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0027 others(2): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0027 a0001c0001t0039 a0001c0001t0096	a0001c0001t0004g0006 a0001c0001t0008g0128 a0001c0001t0027g0014 others(2): Show a0001c0001t0004g0006 a0001c0001t0008g0128 a0001c0001t0027g0014 a0001c0001t0039g0158 a0001c0001t0096g0103	5	214	0.0234	-54	c.691 others(73): Show c.691+26499_691+26552delTGTGTGTGTGTGTGTGTGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SIGIRR_chr11_400716_419999	401733	ACCCCCGA others(47): Show ACCCCCGACCCCGCTCACCCCCGCCCCGCTCACCCCCGCCCCGCTCACCC CCGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	242	0.0041	-54	c.41 others(65): Show c.4109_*4162delGTCGGGGGTGAGCGGGGCGGGGGTGAGCGGGGCG GGGGTGAGCGGGGTCGGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3982		chr11	TogoVar
SIGIRR_chr11_400716_419999	401987	CACCCCCG others(47): Show CACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCAC CCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	242	0.0041	-54	c.38 others(65): Show c.3855_*3908delCGGGGGTGAGCGGGGTCCGGGGTGAGCGGGGCCG GGGTCAGTGGAGCCGGGGGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3728		chr11	TogoVar
SIGIRR_chr11_400716_419999	402392	CCCCGGAC others(47): Show CCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCC ACTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0226 a0001c0006t0001g0226	1	242	0.0041	-54	c.34 others(65): Show c.3450_*3503delTCAGTGGAGCCGGGGGTGAGCGGGGCCGGGGGTC GGGGGTGAGCGGGGTCCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3323		chr11	TogoVar
SIGIRR_chr11_400716_419999	402462	CCCCGGAC others(47): Show CCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCC ACTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02027.hp2 HG01243.hp1 HG02027.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0003c0008 a0001c0006 a0003c0008	a0001c0006t0001 a0003c0008t0001 a0001c0006t0001 a0003c0008t0001	a0001c0006t0001g0109 a0003c0008t0001g0029 a0001c0006t0001g0109 a0003c0008t0001g0029	2	242	0.0083	-54	c.33 others(65): Show c.3380_*3433delTCAGTGGAGCCGGGGGTGAGCGGGGCCGGGGGTC GGGGGTGAGCGGGGTCCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3253		chr11	TogoVar
SIGIRR_chr11_400716_419999	402483	GACCCCCG others(47): Show GACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCAC CCCGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0229 a0001c0004t0001g0229	1	242	0.0041	-54	c.33 others(65): Show c.3359_*3412delTCGGGGTGAGCGGGGCCGGGGTCAGTGGAGCCGG GGGTGAGCGGGGCCGGGGGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3232		chr11	TogoVar
SIM1_chr6_100380009_100469921	100412583	GAAAGAAA others(47): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAGGAAAGAAAG AAAGA	G G	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02602.hp1 HG03831.hp2 others(1): Show HG02300.hp2 HG02602.hp1 HG03831.hp2 NA18947.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0006 a0002c0002t0007 a0002c0002t0001 a0002c0002t0006 a0002c0002t0007	a0002c0002t0001g0192 a0002c0002t0001g0319 a0002c0002t0006g0235 others(1): Show a0002c0002t0001g0192 a0002c0002t0001g0319 a0002c0002t0006g0235 a0002c0002t0007g0121	4	320	0.0125	-54	c.116 others(73): Show c.1167+8153_1167+8206delTCTTTCTTTCTTTCCTTCTTTCTTTC CTTTCTTTCTTTCTTTCTTTCTTTCTTT	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SIM2_chr21_36694115_36754917	36736752	CCTCCCTC others(47): Show CCTCCCTCCCTCCCTTTCTTCTTTCTTTCTTTTCCTTCTTTCTTTTTCTT TCTGT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0361 a0001c0001t0048g0361	1	410	0.0024	-54	c.851 others(71): Show c.851-4962_851-4909delCCCTCCCTCCCTTTCTTCTTTCTTTCTT TTCCTTCTTTCTTTTTCTTTCTGTCT	SIM2	ENSG00000159263.16	transcript	ENST00000290399.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
SIPA1L1_chr14_71315476_71746209	71543814	TGTATGTG others(47): Show TGTATGTGTATATATACATATATCATATGTATGTGTATATATACATATAT CATAC	T T	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19056.hp2 NA19007.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0004g0168 a0001c0002t0001g0135 a0001c0001t0004g0168 a0001c0002t0001g0135	2	174	0.0115	-54	c.-30 others(75): Show c.-303+14471_-303+14524delTGTATGTGTATATATACATATATC ATACGTATGTGTATATATACATATATCATA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SLA2_chr20_36607318_36651196	36609165	ACACACAC others(47): Show ACACACACACACACACACACACACACACACGCACACACGCACACACGCAC ACACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0025 a0001c0001t0009g0025	1	360	0.0028	-54	c.46 others(65): Show c.4647_*4700delCGTGTGTGCGTGTGTGCGTGTGTGCGTGTGTGTG TGTGTGTGTGTGTGTGTGTG	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3152		chr20	TogoVar
SLC10A6_chr4_86818468_86854384	86842816	TTCTTTCT others(47): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0245 a0009c0012t0001g0245	1	350	0.0029	-54	c.377 others(71): Show c.377+5869_377+5922delGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGA	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC12A7_chr5_1045384_1117063	1069994	GCCCCCAG others(47): Show GCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAG TGAGC	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0007 a0007	a0007c0033 a0007c0033	a0007c0033t0004 a0007c0033t0004	a0007c0033t0004g0072 a0007c0033t0004g0072	1	118	0.0085	-54	c.224 others(73): Show c.2241+3585_2241+3638delGCTCACTGGGGGCTGCATAAGTGTGA TGCCCGTGTGCTGGGGGCTCACTGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070017	CGGGCATC others(47): Show CGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGC ACACG	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03927.hp2 HG04204.hp1 HG01255.hp2 HG03927.hp2 HG04204.hp1	a0001 a0001	a0001c0006 a0001c0030 a0001c0035 a0001c0006 a0001c0030 a0001c0035	a0001c0006t0001 a0001c0030t0001 a0001c0035t0001 a0001c0006t0001 a0001c0030t0001 a0001c0035t0001	a0001c0006t0001g0048 a0001c0030t0001g0105 a0001c0035t0001g0054 a0001c0006t0001g0048 a0001c0030t0001g0105 a0001c0035t0001g0054	3	118	0.0254	-54	c.224 others(73): Show c.2241+3562_2241+3615delCGTGTGCTGGGGGCTCACTGGGGGCT CACTGGGGGCTGCATAAGTGTGATGCCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072314	GCCCCCAG others(47): Show GCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACTGGCATCACACTTAT GCAGC	G G	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0031 a0002c0011t0002g0031	1	118	0.0085	-54	c.224 others(73): Show c.2241+1265_2241+1318delGCTGCATAAGTGTGATGCCAGTGTGC TGGGGGCTCACTGGGGGCTCACTGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072431	CGGGCATC others(47): Show CGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGC ACACG	C C	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0034 a0002c0011t0002g0034	1	118	0.0085	-54	c.224 others(73): Show c.2241+1148_2241+1201delCGTGTGCTGGGGGCTCACTGGGGGCT CACTGGGGGCTGCATAAGTGTGATGCCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072630	CGGGCATC others(47): Show CGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGC ACACT	C C	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0033 a0001c0001t0023g0033	1	118	0.0085	-54	c.224 others(72): Show c.2241+949_2241+1002delAGTGTGCTGGGGGCTCACTGGGGGCTC ACTGGGGGCTGCATAAGTGTGATGCCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar

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