Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
RPTOR_chr17_80539838_80971368	80744613	CCCTGGTT others(101): Show CCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTCTCCTGGTTACGAGC ACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTAC TAGCACTGT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02717.hp2 HG02055.hp2 HG02717.hp2	a0001 a0001	a0001c0040 a0001c0087 a0001c0040 a0001c0087	a0001c0040t0066 a0001c0087t0002 a0001c0040t0066 a0001c0087t0002	a0001c0040t0066g0180 a0001c0087t0002g0050 a0001c0040t0066g0180 a0001c0087t0002g0050	2	151	0.0132	-108	c.655 others(17): Show c.655-9391_655-9284del		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744631	CCCTGGCT others(101): Show CCCTGGCTACTAGCACTCTCCTGGTTACGAGCACAGCCCTGGCTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTAC TAGCACTGT	C C	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0030 a0001c0001t0009g0030	1	158	0.0063	-108	c.655 others(17): Show c.655-9362_655-9255del		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744727	CTACTAGC others(101): Show CTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTC CTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC AGCCCTGGT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18522.hp1 NA18906.hp2 others(1): Show HG02109.hp1 NA18522.hp1 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0067 a0001c0075 a0001c0005 a0001c0067 a0001c0075	a0001c0005t0026 a0001c0005t0067 a0001c0067t0068 others(1): Show a0001c0005t0026 a0001c0005t0067 a0001c0067t0068 a0001c0075t0012	a0001c0005t0026g0109 a0001c0005t0067g0111 a0001c0067t0068g0110 others(1): Show a0001c0005t0026g0109 a0001c0005t0067g0111 a0001c0067t0068g0110 a0001c0075t0012g0127	4	165	0.0242	-108	c.655 others(17): Show c.655-9247_655-9140del		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80918445	AGTCATAG others(101): Show AGTCATAGCCACGAGCACCCTCGCCGGAGTCATAGCCACGAGCACCCTCG CGGGGGTCATAGCCATGAGCACCCTCGCGGGGGTCATAGCCATGAGCACC CTCACGGGG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0035 a0001c0004t0035	a0001c0004t0035g0004 a0001c0004t0035g0004	1	129	0.0078	-108	c.252 others(19): Show c.2521-4268_2521-4161del		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	21/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RUBCN_chr3_197663867_197741904	197677743	TGACTGAC others(101): Show TGACTGACAACTGGCTTCAGACTGTCCTACGCTCTAACTCGACACCTGGC TTCAGACTGTCCCACACTCTGACTGACAGCTGGCTTCAGACTGTCCCACG CTCTAACTC	T T	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0048	a0001c0002t0048g0099 a0001c0002t0048g0099	1	184	0.0054	-108	c.243 others(17): Show c.2431-310_2431-203del		RUBCN	ENSG00000145016.17	transcript	ENST00000296343.10	protein_coding	16/19						chr3	TogoVar
RUNDC3B_chr7_87623398_87837296	87626247	TGTCATAT others(101): Show TGTCATATATATGTGTCATATATGTGTCATATATATGTGTCATATATGTG TCATATATATGTGTCGTATATGTGTCATATATATGTGTCGTATATGTGTC ATATATATG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01074.hp2 others(1): Show HG01069.hp2 HG01071.hp2 HG01074.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0028 a0001c0001t0052 a0001c0001t0009 a0001c0001t0028 a0001c0001t0052	a0001c0001t0009g0002 a0001c0001t0009g0197 a0001c0001t0028g0002 others(1): Show a0001c0001t0009g0002 a0001c0001t0009g0197 a0001c0001t0028g0002 a0001c0001t0052g0196	4	194	0.0206	-108	c.-25 others(11): Show c.-2576_-2469del		RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding					2150		chr7	TogoVar
SCAMP5_chr15_74990563_75026495	74990994	CTCTTTCT others(101): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 NA19060.hp1 HG01346.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0199 a0001c0001t0001g0206	2	195	0.0103	-108	c.-47 others(11): Show c.-4727_-4620del		SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding					4568		chr15	TogoVar
SCNN1D_chr1_1275436_1297025	1288233	TCCGTCCC others(101): Show TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGT CTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0038 a0009c0013t0001g0038	1	278	0.0036	-108	c.166 others(17): Show c.1662+204_1662+311del		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288665	CCGTGTCT others(101): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC CTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0029 a0029	a0029c0040 a0029c0040	a0029c0040t0012 a0029c0040t0012	a0029c0040t0012g0132 a0029c0040t0012g0132	1	285	0.0035	-108	c.166 others(17): Show c.1662+630_1662+737del		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289471	CCCCGTGT others(101): Show CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC CTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA18969.hp1 HG01943.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0093 a0002c0002t0001g0014 a0002c0002t0001g0093	2	271	0.0074	-108	c.166 others(17): Show c.1663-760_1663-653del		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289910	CCGTGTCT others(101): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC CTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG03490.hp2 NA19002.hp1 HG00408.hp2 HG03490.hp2 NA19002.hp1	a0002 a0020 a0002 a0020	a0002c0002 a0020c0026 a0002c0002 a0020c0026	a0002c0002t0001 a0020c0026t0001 a0002c0002t0001 a0020c0026t0001	a0002c0002t0001g0012 a0002c0002t0001g0084 a0020c0026t0001g0015 a0002c0002t0001g0012 a0002c0002t0001g0084 a0020c0026t0001g0015	3	287	0.0105	-108	c.166 others(17): Show c.1663-359_1663-252del		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SDCCAG8_chr1_243251041_243505091	243338980	AGACCTCA others(101): Show AGACCTCAGAAAGTGGGGTGGGCGGCAGGAGGGAGCAGACAGCTAGTGGG CAGAGGACCTCAGAAAGTGGGGTGGGCGGCAGGAGGGAGCAGACAGCTAG TGGGCAGAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG02572.hp2 others(4): Show HG01891.hp1 HG02451.hp2 HG02572.hp2 HG02647.hp2 HG02896.hp2 HG06807.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0127 a0001c0001t0001g0185 a0001c0001t0001g0186 others(4): Show a0001c0001t0001g0127 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0002g0102 a0001c0002t0001g0049 a0001c0002t0002g0028	7	59	0.1186	-108	c.122 others(19): Show c.1222-2002_1222-1895del		SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	10/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SEMA5A_chr5_9030033_9551075	9162464	GTATATAT others(101): Show GTATATATATGTGTGTGTGTATATATGTATATGTGTATATATAGGAATAT ATGTGTATATGTGTATATATATGTATGTGTGTATATATGTGTGTGTGTGT GTATATATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00642.hp1 others(15): Show HG00140.hp1 HG00280.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG01257.hp2 HG01517.hp2 HG02040.hp1 HG02572.hp1 HG02735.hp1 HG02735.hp2 HG02897.hp1 HG03130.hp1 NA18964.hp1 NA18991.hp2 NA19012.hp2 NA19068.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0001t0008 a0001c0001t0066 others(12): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0066 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0009 a0001c0002t0022 a0001c0002t0045 a0001c0002t0047 a0001c0002t0050 a0001c0002t0060 a0001c0002t0063 a0001c0002t0082 a0001c0004t0005	a0001c0001t0003g0029 a0001c0001t0008g0122 a0001c0001t0066g0106 others(15): Show a0001c0001t0003g0029 a0001c0001t0008g0122 a0001c0001t0066g0106 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0002g0099 a0001c0002t0004g0026 a0001c0002t0004g0034 a0001c0002t0009g0002 a0001c0002t0009g0003 a0001c0002t0022g0073 a0001c0002t0045g0040 a0001c0002t0047g0053 a0001c0002t0050g0013 a0001c0002t0060g0085 a0001c0002t0063g0100 a0001c0002t0082g0134 a0001c0004t0005g0044	18	132	0.1364	-108	c.127 others(19): Show c.1274-7877_1274-7770del		SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	11/22						chr5	TogoVar
SENP1_chr12_48037897_48111079	48056851	ATATTATT others(101): Show ATATTATTTAATATATTACATATTACATATATAATATATTATTTAATATA TTACATATTACATATATAATATATTATTTAATATATTACATATTACATAT ATAATATAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02129.hp2 NA19066.hp2 HG01074.hp2 HG02129.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0219 a0001c0001t0002g0266 a0001c0001t0002g0008 a0001c0001t0002g0219 a0001c0001t0002g0266	3	343	0.0087	-108	c.140 others(19): Show c.1407+6751_1407+6858del		SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17						chr12	TogoVar
SENP1_chr12_48037897_48111079	48057010	CATATTAC others(101): Show CATATTACATATATAAATATATTATTTAATATATTATATATTACATATAT AAATATATTATTTAATATATTATATATTACATATATAAATATATTATTTA ATATATTAT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0303 a0001c0001t0023g0303	1	376	0.0027	-108	c.140 others(19): Show c.1407+6592_1407+6699del		SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17						chr12	TogoVar
SH3BP4_chr2_234947017_235060714	235043319	ATGGGCGT others(101): Show ATGGGCGTGGGCCGTGGTGTCGTAAGTCACCAGGACAGTGTCTGTGGCTG ATGTCCCGCTGCCTGAGATAGGTGCGGCTCAGCACAGCCTTTCGCCTTCC CAATATGCG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00544.hp2 others(76): Show HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01261.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02129.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02293.hp2 HG02602.hp1 HG03017.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18942.hp2 NA18943.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18957.hp1 NA18962.hp1 NA18964.hp1 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp1 NA18985.hp2 NA18987.hp2 NA18993.hp1 NA18993.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp2 NA19011.hp1 NA19012.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19087.hp1 NA19090.hp1 NA20905.hp2	a0002 a0002	a0002c0001 a0002c0016 a0002c0001 a0002c0016	a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 others(7): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0004 a0002c0001t0007 a0002c0001t0012 a0002c0001t0014 a0002c0001t0015 a0002c0001t0022 a0002c0016t0002	a0002c0001t0001g0069 a0002c0001t0001g0078 a0002c0001t0001g0117 others(76): Show a0002c0001t0001g0069 a0002c0001t0001g0078 a0002c0001t0001g0117 a0002c0001t0001g0155 a0002c0001t0001g0159 a0002c0001t0001g0175 a0002c0001t0001g0184 a0002c0001t0001g0189 a0002c0001t0001g0201 a0002c0001t0001g0218 a0002c0001t0001g0238 a0002c0001t0001g0248 a0002c0001t0001g0249 a0002c0001t0001g0250 a0002c0001t0001g0259 a0002c0001t0001g0271 a0002c0001t0001g0309 a0002c0001t0001g0323 a0002c0001t0001g0327 a0002c0001t0001g0330 a0002c0001t0001g0331 a0002c0001t0002g0050 a0002c0001t0002g0055 a0002c0001t0002g0059 a0002c0001t0002g0062 a0002c0001t0002g0071 a0002c0001t0002g0077 a0002c0001t0002g0081 a0002c0001t0002g0085 a0002c0001t0002g0097 a0002c0001t0002g0098 a0002c0001t0002g0113 a0002c0001t0002g0116 a0002c0001t0002g0137 a0002c0001t0002g0151 a0002c0001t0002g0167 a0002c0001t0002g0168 a0002c0001t0002g0171 a0002c0001t0002g0173 a0002c0001t0002g0185 a0002c0001t0002g0188 a0002c0001t0002g0191 a0002c0001t0002g0199 a0002c0001t0002g0206 a0002c0001t0002g0209 a0002c0001t0002g0210 a0002c0001t0002g0211 a0002c0001t0002g0212 a0002c0001t0002g0213 a0002c0001t0002g0214 a0002c0001t0002g0216 a0002c0001t0002g0220 a0002c0001t0002g0234 a0002c0001t0002g0241 a0002c0001t0002g0247 a0002c0001t0002g0252 a0002c0001t0002g0253 a0002c0001t0002g0265 a0002c0001t0002g0266 a0002c0001t0002g0274 a0002c0001t0002g0279 a0002c0001t0002g0287 a0002c0001t0002g0292 a0002c0001t0002g0294 a0002c0001t0002g0303 a0002c0001t0002g0308 a0002c0001t0002g0312 a0002c0001t0002g0316 a0002c0001t0002g0319 a0002c0001t0003g0231 a0002c0001t0004g0099 a0002c0001t0004g0156 a0002c0001t0007g0060 a0002c0001t0007g0262 a0002c0001t0012g0242 a0002c0001t0014g0317 a0002c0001t0015g0070 a0002c0001t0022g0291 a0002c0016t0002g0051	79	346	0.2283	-108	c.247 others(16): Show c.2478+92_2478+199del		SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235043339	CGTAAGTC others(101): Show CGTAAGTCACCAGGACAGTGTCTGTGGCTGATGTCCCGCTGCCTGAGATA GGTGCGGCTCAGCACAGCCTTTCGCCTTCCCAATATGCGTGGGCGTGGGC CGTGGTGTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp2 others(157): Show HG00099.hp1 HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01975.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02135.hp2 HG02165.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18987.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19084.hp2 NA19087.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0010	a0001c0002 a0001c0003 a0001c0004 others(11): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0012 a0001c0013 a0001c0022 a0001c0024 a0001c0025 a0002c0001 a0002c0019 a0003c0007 a0005c0009 a0010c0026	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(25): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0009 a0001c0002t0016 a0001c0002t0019 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0004t0009 a0001c0006t0001 a0001c0012t0001 a0001c0013t0001 a0001c0013t0010 a0001c0022t0002 a0001c0024t0001 a0001c0025t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0007 a0002c0001t0020 a0002c0019t0001 a0003c0007t0001 a0003c0007t0002 a0005c0009t0001 a0010c0026t0002	a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0018 others(154): Show a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0030 a0001c0002t0001g0037 a0001c0002t0001g0061 a0001c0002t0001g0067 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0080 a0001c0002t0001g0090 a0001c0002t0001g0094 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0115 a0001c0002t0001g0120 a0001c0002t0001g0141 a0001c0002t0001g0143 a0001c0002t0001g0163 a0001c0002t0001g0165 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0002t0001g0182 a0001c0002t0001g0187 a0001c0002t0001g0192 a0001c0002t0001g0200 a0001c0002t0001g0215 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0230 a0001c0002t0001g0243 a0001c0002t0001g0254 a0001c0002t0001g0260 a0001c0002t0001g0264 a0001c0002t0001g0270 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0280 a0001c0002t0001g0288 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0302 a0001c0002t0001g0311 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0325 a0001c0002t0002g0114 a0001c0002t0002g0122 a0001c0002t0002g0152 a0001c0002t0002g0193 a0001c0002t0002g0217 a0001c0002t0002g0228 a0001c0002t0002g0251 a0001c0002t0002g0255 a0001c0002t0002g0257 a0001c0002t0002g0263 a0001c0002t0002g0299 a0001c0002t0002g0301 a0001c0002t0003g0012 a0001c0002t0003g0022 a0001c0002t0003g0027 a0001c0002t0003g0033 a0001c0002t0003g0064 a0001c0002t0003g0066 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0079 a0001c0002t0003g0083 a0001c0002t0003g0086 a0001c0002t0003g0100 a0001c0002t0003g0132 a0001c0002t0003g0133 a0001c0002t0003g0134 a0001c0002t0003g0145 a0001c0002t0003g0195 a0001c0002t0003g0197 a0001c0002t0003g0221 a0001c0002t0003g0235 a0001c0002t0003g0236 a0001c0002t0003g0240 a0001c0002t0003g0256 a0001c0002t0003g0300 a0001c0002t0003g0313 a0001c0002t0003g0341 a0001c0002t0004g0046 a0001c0002t0004g0087 a0001c0002t0004g0123 a0001c0002t0004g0202 a0001c0002t0004g0222 a0001c0002t0004g0286 a0001c0002t0004g0293 a0001c0002t0004g0305 a0001c0002t0004g0307 a0001c0002t0004g0335 a0001c0002t0009g0177 a0001c0002t0016g0039 a0001c0002t0019g0031 a0001c0003t0001g0002 a0001c0004t0001g0036 a0001c0004t0001g0052 a0001c0004t0002g0043 a0001c0004t0002g0344 a0001c0004t0009g0082 a0001c0006t0001g0095 a0001c0006t0001g0107 a0001c0006t0001g0144 a0001c0006t0001g0204 a0001c0006t0001g0296 a0001c0012t0001g0001 a0001c0013t0001g0009 a0001c0013t0010g0088 a0001c0022t0002g0295 a0001c0024t0001g0049 a0001c0025t0001g0129 a0002c0001t0001g0008 a0002c0001t0001g0042 a0002c0001t0001g0047 a0002c0001t0001g0048 a0002c0001t0001g0084 a0002c0001t0001g0093 a0002c0001t0001g0160 a0002c0001t0001g0227 a0002c0001t0001g0232 a0002c0001t0001g0233 a0002c0001t0001g0261 a0002c0001t0001g0273 a0002c0001t0001g0336 a0002c0001t0002g0021 a0002c0001t0002g0053 a0002c0001t0002g0180 a0002c0001t0002g0219 a0002c0001t0002g0245 a0002c0001t0002g0306 a0002c0001t0003g0023 a0002c0001t0003g0026 a0002c0001t0003g0058 a0002c0001t0003g0340 a0002c0001t0007g0304 a0002c0001t0007g0314 a0002c0001t0020g0032 a0002c0019t0001g0140 a0003c0007t0001g0154 a0003c0007t0001g0181 a0003c0007t0002g0149 a0003c0007t0002g0150 a0005c0009t0001g0131 a0005c0009t0001g0284 a0005c0009t0001g0285 a0010c0026t0002g0166	160	339	0.4720	-108	c.247 others(17): Show c.2478+461_2478+568del		SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
SHC2_chr19_411589_466033	433450	TGGCGCTT others(101): Show TGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGG CAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGG AGGCCGGGC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA21309.hp1 HG02559.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0051 a0001c0001t0016g0069 a0001c0001t0002g0051 a0001c0001t0016g0069	2	210	0.0095	-108	c.111 others(19): Show c.1110+1151_1110+1258del		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12						chr19	TogoVar
SHROOM2_chrX_9781429_9954443	9792038	ATAGAATA others(101): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00639.hp1 others(20): Show HG00099.hp2 HG00544.hp1 HG00639.hp1 HG01099.hp1 HG01175.hp2 HG01346.hp1 HG02109.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02622.hp1 HG02717.hp1 HG02886.hp1 HG02895.hp1 HG03041.hp2 HG03225.hp1 HG03490.hp1 NA18522.hp1 NA18942.hp2 NA19067.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0011 a0025 a0028 a0030 a0035	a0001c0001 a0001c0003 a0001c0034 others(14): Show a0001c0001 a0001c0003 a0001c0034 a0002c0002 a0002c0006 a0002c0017 a0002c0049 a0003c0004 a0003c0005 a0003c0008 a0004c0024 a0006c0018 a0011c0071 a0025c0072 a0028c0061 a0030c0075 a0035c0033	a0001c0001t0001 a0001c0003t0001 a0001c0003t0013 others(15): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0013 a0001c0034t0001 a0002c0002t0002 a0002c0006t0003 a0002c0017t0002 a0002c0049t0002 a0003c0004t0003 a0003c0005t0004 a0003c0008t0004 a0004c0024t0007 a0006c0018t0006 a0011c0071t0003 a0025c0072t0002 a0028c0061t0001 a0030c0075t0001 a0035c0033t0002	a0001c0001t0001g0174 a0001c0001t0001g0203 a0001c0001t0001g0215 others(20): Show a0001c0001t0001g0174 a0001c0001t0001g0203 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0003t0001g0104 a0001c0003t0013g0102 a0001c0034t0001g0206 a0002c0002t0002g0103 a0002c0002t0002g0141 a0002c0002t0002g0144 a0002c0006t0003g0005 a0002c0017t0002g0140 a0002c0049t0002g0143 a0003c0004t0003g0142 a0003c0005t0004g0147 a0003c0008t0004g0204 a0004c0024t0007g0255 a0006c0018t0006g0145 a0011c0071t0003g0202 a0025c0072t0002g0236 a0028c0061t0001g0205 a0030c0075t0001g0146 a0035c0033t0002g0006	23	212	0.1085	-108	c.165 others(17): Show c.165+5329_165+5436del		SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9						chrX	TogoVar
SIGIRR_chr11_400716_419999	402110	CGACCCCC others(101): Show CGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCA CCCCGACCCCGCTCACCCCAGACCCCCGGCCCCGCTCACCCCCGGCTCCA CTGACCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0047 a0004c0008t0001g0047	1	201	0.0050	-108	c.36 others(11): Show c.3678_*3785del		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					3605		chr11	TogoVar
SIGIRR_chr11_400716_419999	402446	ACCCCGGC others(101): Show ACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCC GCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGACCCCGCTC ACCCCCGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01261.hp1 HG02145.hp1 others(6): Show HG01243.hp2 HG01261.hp1 HG02145.hp1 HG02258.hp2 HG02647.hp2 HG03225.hp2 HG03516.hp2 NA18522.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0022 a0001c0001t0001g0040 a0001c0001t0001g0041 others(5): Show a0001c0001t0001g0022 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0105 a0001c0001t0001g0137 a0001c0001t0001g0167 a0001c0001t0001g0196 a0001c0003t0001g0020	9	212	0.0425	-108	c.33 others(11): Show c.3342_*3449del		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					3269		chr11	TogoVar
SLC27A5_chr19_58493333_58516992	58502699	GTGGACAG others(101): Show GTGGACAGTTAGAGTAGTGAGTGAGTAGATGGATGGGTGGACAGTTAGAG TAGTGAGTGAGTAGATGGATGGGTGGACAGTTAGAGTAGTGAGTGAGTAG ATGGATGGC	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0059 a0002c0002t0001g0059	1	409	0.0024	-108	c.105 others(19): Show c.1058-1397_1058-1290del		SLC27A5	ENSG00000083807.10	transcript	ENST00000263093.7	protein_coding	3/9						chr19	TogoVar
SLC39A14_chr8_22362278_22427736	22396431	AGAGAGAG others(101): Show AGAGAGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG02622.hp1 others(10): Show HG01891.hp1 HG02145.hp2 HG02622.hp1 HG02630.hp1 HG02818.hp1 HG03130.hp2 HG03139.hp2 NA18945.hp1 NA18964.hp2 NA18971.hp1 NA18983.hp1 NA19003.hp2 NA19056.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0004 a0001c0007 others(3): Show a0001c0003 a0001c0004 a0001c0007 a0002c0006 a0003c0001 a0003c0008	a0001c0003t0004 a0001c0003t0005 a0001c0004t0001 others(5): Show a0001c0003t0004 a0001c0003t0005 a0001c0004t0001 a0001c0007t0006 a0002c0006t0007 a0003c0001t0001 a0003c0001t0022 a0003c0008t0004	a0001c0003t0004g0249 a0001c0003t0005g0233 a0001c0003t0005g0242 others(10): Show a0001c0003t0004g0249 a0001c0003t0005g0233 a0001c0003t0005g0242 a0001c0004t0001g0258 a0001c0004t0001g0259 a0001c0007t0006g0290 a0002c0006t0007g0210 a0002c0006t0007g0211 a0003c0001t0001g0105 a0003c0001t0001g0118 a0003c0001t0001g0123 a0003c0001t0022g0086 a0003c0008t0004g0247	13	320	0.0406	-108	c.-15 others(17): Show c.-15-8247_-15-8140del		SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC39A8_chr4_102256666_102350482	102320409	AATATATA others(101): Show AATATATATATGAGAATATATATATATGAGAATATATATATGAGAGTATA TATACATATGAGAATATATATATGAGAGTATATATATATGAGAATATATA TATGAGAGT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03831.hp2 HG03516.hp1 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0003 a0001c0002t0004	a0001c0002t0003g0109 a0001c0002t0004g0131 a0001c0002t0003g0109 a0001c0002t0004g0131	2	215	0.0093	-108	c.220 others(17): Show c.220-4687_220-4580del		SLC39A8	ENSG00000138821.14	transcript	ENST00000356736.5	protein_coding	2/8						chr4	TogoVar
SLC6A3_chr5_1387794_1450440	1422577	CTGCTGGG others(101): Show CTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCATGGTGCTGGGTGCCCA CCGCTGCCCAGTGCTGCCCATGGTGCTGGGTACCCACCGCTGCCCAGTGC TGCCCATGG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03516.hp1 HG02145.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0026 a0001c0002t0011 a0001c0002t0026	a0001c0002t0011g0017 a0001c0002t0026g0018 a0001c0002t0011g0017 a0001c0002t0026g0018	2	360	0.0056	-108	c.654 others(15): Show c.654-671_654-564del		SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14						chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1422636	AGTGCTGC others(101): Show AGTGCTGCCCATGGTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCATGG TGCTGGGTGCCCACCACTGCCCACAGTGCTGCCCACGGTGCTGGGTGCCC ACCGCTGCC	A A	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04228.hp2 HG04115.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0007 a0001c0008t0001 a0001c0001t0007 a0001c0008t0001	a0001c0001t0007g0353 a0001c0008t0001g0352 a0001c0001t0007g0353 a0001c0008t0001g0352	2	368	0.0054	-108	c.654 others(15): Show c.654-730_654-623del		SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14						chr5	TogoVar
SNX30_chr9_112745760_112879987	112749203	TGGTGTAC others(101): Show TGGTGTACTAAAGAGAAAGCTTGTATAGAGTCTTAATCCATACGGATGTC CATTATATTTAAGGCAGCCTGGTTGTTAAAATAAGTAGCACCATTCAATA AGAAAAACC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	336	0.0030	-108	c.-17 others(11): Show c.-1798_-1691del		SNX30	ENSG00000148158.17	transcript	ENST00000374232.8	protein_coding					1556		chr9	TogoVar
SORL1_chr11_121447314_121638763	121480858	GGCTCCAT others(101): Show GGCTCCATCTCTTCTTCCCCAGCTTCTTCCGTAGTGCACAGATACCTATA GGCAGGCTTCATCTCCTCCTCCCCAGCTCCTCCCCTAGTGCACAGATACC TATAGGCAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG01167.hp2 others(23): Show HG00099.hp2 HG00735.hp1 HG01167.hp2 HG01169.hp1 HG01361.hp2 HG01496.hp1 HG01993.hp1 HG02109.hp2 HG02257.hp1 HG02451.hp1 HG02630.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03139.hp1 HG03453.hp2 HG04199.hp2 NA19043.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0015	a0001c0002 a0001c0003 a0001c0004 others(11): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0010 a0001c0022 a0001c0023 a0001c0035 a0001c0058 a0002c0030 a0003c0034 a0005c0041 a0015c0037	a0001c0002t0001 a0001c0002t0003 a0001c0003t0002 others(20): Show a0001c0002t0001 a0001c0002t0003 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0007 a0001c0003t0008 a0001c0003t0012 a0001c0003t0023 a0001c0004t0029 a0001c0006t0001 a0001c0006t0028 a0001c0009t0003 a0001c0010t0002 a0001c0022t0003 a0001c0023t0002 a0001c0023t0003 a0001c0035t0001 a0001c0058t0011 a0002c0030t0002 a0003c0034t0003 a0005c0041t0013 a0015c0037t0005	a0001c0002t0001g0139 a0001c0002t0003g0150 a0001c0003t0002g0105 others(23): Show a0001c0002t0001g0139 a0001c0002t0003g0150 a0001c0003t0002g0105 a0001c0003t0003g0262 a0001c0003t0005g0226 a0001c0003t0005g0228 a0001c0003t0007g0264 a0001c0003t0007g0265 a0001c0003t0008g0208 a0001c0003t0008g0263 a0001c0003t0012g0184 a0001c0003t0023g0183 a0001c0004t0029g0187 a0001c0006t0001g0072 a0001c0006t0028g0031 a0001c0009t0003g0147 a0001c0010t0002g0190 a0001c0022t0003g0213 a0001c0023t0002g0070 a0001c0023t0003g0193 a0001c0035t0001g0071 a0001c0058t0011g0166 a0002c0030t0002g0212 a0003c0034t0003g0227 a0005c0041t0013g0189 a0015c0037t0005g0259	26	270	0.0963	-108	c.528 others(17): Show c.528+2626_528+2733del		SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	3/47					INFO_REALIGN_3_PRIME	chr11	TogoVar
SPAG16_chr2_213279464_214415501	213980200	ATATATAT others(101): Show ATATATATATAGAATATATGTGTGTATATATATTCTCTATATATATAGAA TATATGTGTGTATATATATTCTCTATATATATAGAATATATGTGTGTATA TATATTCTC	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	74	0.0135	-108	c.140 others(21): Show c.1401-33643_1401-33536del		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPOCK1_chr5_136970298_137504326	137013553	ATTTGCCT others(101): Show ATTTGCCTAGAGAACATTTTTTATTCATATCTATGATCTATGTGTAGTCC GAATGCCAACCTCTCCCTCCAGAAATTCTCATTCTCTAACACCTGTAAAA CTAATGAAT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0015 a0001c0001t0010g0015	1	152	0.0066	-108	c.590 others(19): Show c.590-21061_590-20954del		SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	6/10						chr5	TogoVar
SPRTN_chr1_231333293_231360023	231359410	TGCCCTTC others(101): Show TGCCCTTCATTATATTTCCACTTGGTCACCTTGTAGCTTAAATTAATTCA TCTTTTTCAATTTCTTTGCTGAGTTACTTCAACTTTTCTCAGCTTCCTCT GTTTTTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	350	0.0029	-108	c.60 others(11): Show c.6050_*6157del		SPRTN	ENSG00000010072.16	transcript	ENST00000295050.12	protein_coding					4388		chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43905533	CCTCCCCC others(101): Show CCTCCCCCTCCTTCTGCTCCTATTCCTGCCACTGTTTCTCCCCCTCCTCC TGCTTCTCTTCCCGCCACTGTTTCTCCCCCTCCTCCTGCTTCTCTTCCCG CCACTGTTT	C C	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	271	0.0037	-108	c.744 others(17): Show c.744+5818_744+5925del		ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43905551	CCTATTCC others(101): Show CCTATTCCTGCCACTGTTTCTCCCCCTCCTCCTGCTTCTCTTCCCGCCAC TGTTTCTCCCCCTCCTCCTGCTTCTCTTCCCGCCACTGTTTCTCCCCCTC CTCCTGCTT	C C	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18949.hp2 NA18612.hp1 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0091 a0001c0001t0002g0021 a0001c0001t0002g0091	2	270	0.0074	-108	c.744 others(17): Show c.744+5827_744+5934del		ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43905554	ATTCCTGC others(101): Show ATTCCTGCCACTGTTTCTCCCCCTCCTCCTGCTTCTCTTCCCGCCACTGT TTCTCCCCCTCCTCCTGCTTCTCTTCCCGCCACTGTTTCTCCCCCTCCTC CTGCTTCTC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	245	0.0041	-108	c.744 others(17): Show c.744+5832_744+5939del		ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43905621	CTTCTCTT others(101): Show CTTCTCTTCCCGCCACTGTTTCTCCCCCTCCTCCTGCTTCTCTTCCCGCC ACTGTTTCTCCCCCTCCTTCTGCCCCCCTTCCCACCACTCTTCCTCCCCC TCCTCCTGT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02559.hp1 HG02647.hp2 others(4): Show HG00323.hp1 HG02559.hp1 HG02647.hp2 HG03516.hp1 NA18906.hp1 NA19043.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0072 a0001c0001t0001g0245 a0001c0001t0001g0257 others(4): Show a0001c0001t0001g0072 a0001c0001t0001g0245 a0001c0001t0001g0257 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0002g0083 a0001c0001t0002g0088	7	269	0.0260	-108	c.744 others(17): Show c.744+5896_744+6003del		ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
STON1_chr2_48525154_48603513	48564494	TCTTCTTC others(101): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTCCTCCTCCTC CTCCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02080.hp1 HG03942.hp1 others(4): Show HG01433.hp1 HG02080.hp1 HG03942.hp1 NA18940.hp1 NA18963.hp1 NA19005.hp1 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0001 a0002c0002t0002 a0002c0005t0003 a0002c0002t0001 a0002c0002t0002 a0002c0005t0003	a0002c0002t0001g0065 a0002c0002t0002g0133 a0002c0002t0002g0144 others(4): Show a0002c0002t0001g0065 a0002c0002t0002g0133 a0002c0002t0002g0144 a0002c0002t0002g0172 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0005t0003g0151	7	363	0.0193	-108	c.-47 others(19): Show c.-47-16087_-47-15980del		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48564500	TCTTCTTC others(101): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTC CTCCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01106.hp1 HG01261.hp1 others(3): Show HG00099.hp2 HG01106.hp1 HG01261.hp1 HG01975.hp2 HG02965.hp1 HG03710.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0027 a0002c0002 a0008c0027	a0002c0002t0001 a0002c0002t0002 a0008c0027t0004 a0002c0002t0001 a0002c0002t0002 a0008c0027t0004	a0002c0002t0001g0013 a0002c0002t0002g0128 a0002c0002t0002g0217 others(3): Show a0002c0002t0001g0013 a0002c0002t0002g0128 a0002c0002t0002g0217 a0002c0002t0002g0321 a0002c0002t0002g0341 a0008c0027t0004g0293	6	371	0.0162	-108	c.-47 others(19): Show c.-47-16081_-47-15974del		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STON2_chr14_81255652_81405324	81308812	ATATATAT others(101): Show ATATATATATATATGTGTGTGTGTGTATATATATATATATACACATACAT ACATACATACATACATACACTAAAGGGTTGTGGCAGGATTTGAGACAGAA AGGCTGCTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02922.hp2 HG03130.hp1 others(4): Show HG02559.hp2 HG02922.hp2 HG03130.hp1 HG03225.hp2 HG03540.hp2 NA18522.hp2 NA20129.hp2	a0007 a0011 a0007 a0011	a0007c0007 a0011c0020 a0007c0007 a0011c0020	a0007c0007t0014 a0007c0007t0015 a0007c0007t0025 others(2): Show a0007c0007t0014 a0007c0007t0015 a0007c0007t0025 a0007c0007t0044 a0011c0020t0042	a0007c0007t0014g0011 a0007c0007t0014g0026 a0007c0007t0015g0029 others(4): Show a0007c0007t0014g0011 a0007c0007t0014g0026 a0007c0007t0015g0029 a0007c0007t0025g0172 a0007c0007t0025g0223 a0007c0007t0044g0185 a0011c0020t0042g0164	7	260	0.0269	-108	c.742 others(19): Show c.742+15097_742+15204del		STON2	ENSG00000140022.14	transcript	ENST00000614646.5	protein_coding	5/7						chr14	TogoVar
SYNPR_chr3_63273308_63621924	63313822	CATATATA others(101): Show CATATATATATCCATATATATATATCCATATATATATCCATATATATATA TCCATATATATATCCATATATATATATCCATATATATATCCATATATATA TATATCCAT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03486.hp1 HG02818.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0094 a0001c0001t0003g0093 a0001c0001t0001g0094 a0001c0001t0003g0093	2	231	0.0087	-108	c.84+ others(17): Show c.84+35091_84+35198del		SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
TBC1D22A_chr22_46757650_47180693	47176438	CCCTGTCC others(101): Show CCCTGTCCCCGCGGGTGTGGGGTGTGCCCCTGTCCCCGCGGGTGTGGGGT GTGCCCCTGTCCCCGCGGGTGTGGGGTGTGCCCCTGTCCCCGCGGGTGTG GGGTGTGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0068 a0001c0001t0016g0068	1	112	0.0089	-108	c.28 others(11): Show c.2813_*2920del		TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding					746		chr22	TogoVar
TBCD_chr17_82747065_82950914	82785513	CACCCATC others(101): Show CACCCATCGCAGCGGGAGGGGCGTCCATGCTGTGTGACTGGGACCACTGG ACCCGACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCA CTGGACCCG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03195.hp2 HG02258.hp1 HG03195.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0005 a0002c0006t0005	a0002c0006t0005g0107 a0002c0006t0005g0116 a0002c0006t0005g0107 a0002c0006t0005g0116	2	297	0.0067	-108	c.771 others(17): Show c.771+3813_771+3920del		TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	7/38					INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82785596	CTGTGTGA others(101): Show CTGTGTGACTGGGACCACTGGACCCGACCCATCGCAGCGGGAGGGGGGTC CATGCTGTGTGACTGGGACCACTGGATCCCACCCATCGCAGCGGGAGGGG GGTCCATGA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0006 a0006	a0006c0038 a0006c0038	a0006c0038t0005 a0006c0038t0005	a0006c0038t0005g0117 a0006c0038t0005g0117	1	316	0.0032	-108	c.771 others(17): Show c.771+3897_771+4004del		TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	7/38					INFO_REALIGN_3_PRIME	chr17	TogoVar
TBXA2R_chr19_3589507_3611875	3590599	GAACTCAG others(101): Show GAACTCAGATGGGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGC TCTGAGACCGAGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCC CAGCTCTAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00741.hp2 HG01109.hp2 others(12): Show HG00140.hp2 HG00741.hp2 HG01109.hp2 HG01175.hp2 HG01255.hp2 HG01346.hp1 HG02055.hp1 HG02109.hp2 HG02257.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03139.hp1 HG03471.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0002c0006	a0001c0002t0002 a0001c0002t0008 a0001c0002t0010 others(4): Show a0001c0002t0002 a0001c0002t0008 a0001c0002t0010 a0001c0003t0001 a0001c0003t0014 a0001c0004t0003 a0002c0006t0009	a0001c0002t0002g0006 a0001c0002t0002g0186 a0001c0002t0002g0203 others(8): Show a0001c0002t0002g0006 a0001c0002t0002g0186 a0001c0002t0002g0203 a0001c0002t0008g0024 a0001c0002t0008g0025 a0001c0002t0008g0064 a0001c0002t0010g0238 a0001c0003t0001g0145 a0001c0003t0014g0092 a0001c0004t0003g0089 a0002c0006t0009g0035	15	426	0.0352	-108	c.49 others(11): Show c.4981_*5088del		TBXA2R	ENSG00000006638.13	transcript	ENST00000375190.10	protein_coding					3907		chr19	TogoVar
TCHH_chr1_152101317_152120444	152111929	CCTGCTCG others(101): Show CCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTC AGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCG CCTCAGCTG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	162	0.0062	-108	c.118 others(9): Show c.1180_1287del	p.Gln others(13): Show p.Gln394_Gln429del	TCHH	ENSG00000159450.13	transcript	ENST00000614923.2	protein_coding	3/3	1372/6985	1180/5832	394/1943			chr1	TogoVar
TDRP_chr8_484946_549834	503531	GCACACTG others(101): Show GCACACTGGAACCAATGCCCACTCACCATGCATCAACACAGAATCCAAAG CCACACATCAGAACCTGTACCCACCTCAGCACGCACCCAACACGGAATCC AGAGCCACA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp1 HG02886.hp2 others(4): Show HG02109.hp1 HG02572.hp1 HG02886.hp2 HG02970.hp1 HG03130.hp2 HG03579.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0029 a0001c0001t0032 a0003c0004t0059 a0001c0001t0029 a0001c0001t0032 a0003c0004t0059	a0001c0001t0029g0285 a0001c0001t0029g0286 a0001c0001t0029g0287 others(4): Show a0001c0001t0029g0285 a0001c0001t0029g0286 a0001c0001t0029g0287 a0001c0001t0032g0305 a0001c0001t0032g0346 a0001c0001t0032g0347 a0003c0004t0059g0288	7	442	0.0158	-108	c.109 others(17): Show c.109-9042_109-8935del		TDRP	ENSG00000180190.13	transcript	ENST00000324079.11	protein_coding	1/2						chr8	TogoVar
TENM4_chr11_78647829_79446030	79190943	GTCTCCCT others(101): Show GTCTCCCTCTCCCTCTCCCGTCTCCCGTCTCCCTCTCCCTCTCCCGTCTC CCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTC CCGTCTCCC	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03098.hp2 HG03139.hp1 others(1): Show HG02922.hp1 HG03098.hp2 HG03139.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0011 others(1): Show a0001c0001 a0001c0004 a0001c0011 a0002c0018	a0001c0001t0040 a0001c0004t0028 a0001c0011t0047 others(1): Show a0001c0001t0040 a0001c0004t0028 a0001c0011t0047 a0002c0018t0010	a0001c0001t0040g0046 a0001c0004t0028g0010 a0001c0011t0047g0066 others(1): Show a0001c0001t0040g0046 a0001c0004t0028g0010 a0001c0011t0047g0066 a0002c0018t0010g0030	4	92	0.0435	-108	c.-16 others(21): Show c.-163+24757_-163+24864del		TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	3/33						chr11	TogoVar
TFB1M_chr6_155251134_155319484	155305201	TATATATT others(101): Show TATATATTAAATTATATATTTATATATATATATTAAATTATATATTTATA TATATATTAAATTATATATTTATATATATATATTAAATTATATATTTATA TATATAAAC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0177 a0001c0002t0003g0177	1	346	0.0029	-108	c.285 others(17): Show c.285+5879_285+5986del		TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	2/6						chr6	TogoVar
TMCO3_chr13_113486021_113555229	113533053	TCCTGAAG others(101): Show TCCTGAAGTCGCAGACGTGGGCCCTGCAGCGAGCTCTGAAGGACGCTGCC TCCCTCCTACTGAAGTCGCAGACGTGGGCCCTGCAGCGAGCTCTGAAGGA CGCTGCCTC	T T	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0260 a0002c0003t0003g0260	1	366	0.0027	-108	c.134 others(17): Show c.1344-988_1344-881del		TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM132D_chr12_129066726_129909025	129387196	CACTAACA others(101): Show CACTAACAATAATACCAACACTAACACTAATATAACACTAACACTAATGC TAACACTAATAATAATACTAACACTAGTGCTAATAGTATGTGCCAATGCC AACACCAAT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01891.hp2 HG02083.hp1 others(16): Show HG01167.hp1 HG01891.hp2 HG02083.hp1 HG02451.hp2 HG02698.hp1 HG02698.hp2 HG02818.hp1 HG02922.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03225.hp1 HG03540.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp2 NA18906.hp1 NA20752.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0003c0005 a0007c0008 a0008c0017 a0009c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0015 a0001c0002t0001 a0001c0004t0001 a0001c0004t0006 a0002c0003t0001 a0002c0003t0009 a0003c0005t0001 a0007c0008t0004 a0008c0017t0001 a0009c0009t0002	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0015 others(16): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0002g0008 a0001c0001t0002g0033 a0001c0001t0007g0020 a0001c0001t0010g0044 a0001c0001t0015g0005 a0001c0002t0001g0057 a0001c0004t0001g0058 a0001c0004t0006g0045 a0002c0003t0001g0049 a0002c0003t0001g0056 a0002c0003t0001g0062 a0002c0003t0009g0018 a0003c0005t0001g0035 a0007c0008t0004g0043 a0008c0017t0001g0017 a0009c0009t0002g0080	19	92	0.2065	-108	c.111 others(21): Show c.1116-49487_1116-49380del		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	3/8						chr12	TogoVar
TMEM239_chr20_2811364_2823062	2822664	CTCTCCCT others(101): Show CTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCC CGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTC CCTCTCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	398	0.0025	-108	c.56 others(11): Show c.5652_*5759del		TMEM239	ENSG00000198326.10	transcript	ENST00000380585.2	protein_coding					4603		chr20	TogoVar

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