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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SCN11A_chr3_38840764_39056944	38877198	A A	ATATATAT others(22): Show ATATATATGGTATATATATGGTGTATATAC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	311	0.0032	29	c.339 others(48): Show c.3393+2723_3393+2751dupGTATATACACCATATATATACCATAT ATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38877229	A A	ATATATAT others(22): Show ATATATATGGTATATATATGGTGTATATAC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	307	0.0033	29	c.339 others(48): Show c.3393+2692_3393+2720dupGTATATACACCATATATATACCATAT ATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38877260	A A	ATATATAT others(22): Show ATATATATGGTATATATATGGTGTATATAC	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	294	0.0034	29	c.339 others(48): Show c.3393+2661_3393+2689dupGTATATACACCATATATATACCATAT ATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38877382	A A	ATATATAT others(22): Show ATATATATGGTATATATATGGTGTATATAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0197 a0001c0024t0001g0197	1	312	0.0032	29	c.339 others(48): Show c.3393+2539_3393+2567dupGTATATACACCATATATATACCATAT ATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38877723	A A	ATATATAT others(22): Show ATATATATGGTATATATATGGTGTATATAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0030 a0002c0003t0001g0030	1	312	0.0032	29	c.339 others(48): Show c.3393+2198_3393+2226dupGTATATACACCATATATATACCATAT ATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCN5A_chr3_38543062_38654687	38585662	G G	GTGTGTGT others(22): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18970.hp2 NA18963.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0003 a0001c0002t0001 a0001c0003t0003	a0001c0002t0001g0264 a0001c0003t0003g0179 a0001c0002t0001g0264 a0001c0003t0003g0179	2	19	0.1053	29	c.278 others(44): Show c.2787+28_2787+29insACACACACACACACACACACACACACACA	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	16/27			chr3	TogoVar
SCN7A_chr2_166398573_166499249	166414993	A A	AGGATAAT others(22): Show AGGATAATATATAATATATATTATTATATG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01243.hp1 HG01346.hp1 others(10): Show HG00741.hp2 HG01243.hp1 HG01346.hp1 HG02602.hp2 HG02818.hp1 HG03098.hp2 HG03239.hp2 HG03453.hp2 HG03540.hp2 HG03654.hp2 HG03710.hp2 HG04228.hp1 NA18612.hp2	a0006 a0024 a0006 a0024	a0006c0006 a0024c0031 a0006c0006 a0024c0031	a0006c0006t0006 a0006c0006t0029 a0024c0031t0004 a0006c0006t0006 a0006c0006t0029 a0024c0031t0004	a0006c0006t0006g0024 a0006c0006t0006g0026 a0006c0006t0006g0027 others(10): Show a0006c0006t0006g0024 a0006c0006t0006g0026 a0006c0006t0006g0027 a0006c0006t0006g0029 a0006c0006t0006g0030 a0006c0006t0006g0033 a0006c0006t0006g0035 a0006c0006t0006g0036 a0006c0006t0006g0037 a0006c0006t0006g0039 a0006c0006t0006g0040 a0006c0006t0029g0025 a0024c0031t0004g0031	13	392	0.0332	29	c.341 others(48): Show c.3414+1713_3414+1714insCATATAATAATATATATTATATATTA TCC	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCUBE1_chr22_43192280_43348372	43199085	T T	TTGTCTGT others(22): Show TTGTCTGTCTGCTGTCTGGGGCAGTTTGTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0037 a0001c0004t0037	a0001c0004t0037g0106 a0001c0004t0037g0106	1	266	0.0038	29	c.48 others(40): Show c.4883_*4911dupGACAAACTGCCCCAGACAGCAGACAGACA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	22/22	4911		chr22	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0339 a0002c0001t0004g0339	1	121	0.0083	29	c.120 others(46): Show c.1208-967_1208-966insAAATATATATATATATATATATATATAT A	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0007 a0004c0004t0007	a0004c0004t0007g0284 a0004c0004t0007g0284	1	121	0.0083	29	c.120 others(46): Show c.1208-967_1208-966insAAAAATATATATATATATATATATATAT A	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCYGR1_chr2_227382683_227392949	227389894	T T	TTTTCTTT others(22): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00733.hp1 HG01433.hp1 others(10): Show HG00673.hp1 HG00733.hp1 HG01433.hp1 HG01952.hp1 HG02148.hp1 HG04228.hp2 NA18948.hp2 NA18968.hp1 NA18973.hp1 NA18985.hp2 NA18999.hp2 NA19043.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0000 a0001c0003t0001g0000 a0001c0002t0001g0000 a0001c0003t0001g0000	13	271	0.0480	29	c.-19 others(40): Show c.-1946_-1945insGAAAAGAAAAGAAAAGAAAAGAAAAGAAA	SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding		1946		chr2	TogoVar
SDC2_chr8_96488813_96616790	96526328	G G	GAAGAAAT others(22): Show GAAGAAATGAGAATTTTACATGCTTGACAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp2 HG00642.hp1 others(82): Show HG00140.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01123.hp1 HG01169.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02486.hp1 HG02523.hp2 HG02602.hp1 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03579.hp1 HG03669.hp2 HG03710.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG06807.hp2 NA18943.hp1 NA18946.hp1 NA18956.hp1 NA18961.hp1 NA18981.hp1 NA18984.hp2 NA18988.hp1 NA18989.hp1 NA18994.hp1 NA18999.hp2 NA19030.hp2 NA19043.hp2 NA19058.hp2 NA19077.hp2 NA19085.hp1 NA19086.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0008 a0002c0005t0001 a0002c0005t0003 a0002c0005t0004 a0002c0005t0005 a0002c0005t0006 a0003c0004t0001 a0003c0004t0003	a0001c0001t0001g0006 a0001c0001t0001g0028 a0001c0001t0001g0040 others(81): Show a0001c0001t0001g0006 a0001c0001t0001g0028 a0001c0001t0001g0040 a0001c0001t0001g0059 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0207 a0001c0001t0001g0252 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0087 a0001c0001t0002g0099 a0001c0001t0002g0124 a0001c0001t0002g0129 a0001c0001t0002g0313 a0001c0001t0003g0184 a0001c0001t0007g0128 a0001c0001t0007g0132 a0001c0001t0010g0141 a0001c0003t0001g0039 a0001c0003t0001g0041 a0001c0003t0001g0042 a0001c0003t0001g0043 a0001c0003t0001g0049 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0058 a0001c0003t0001g0256 a0001c0003t0001g0268 a0001c0003t0001g0280 a0001c0003t0001g0289 a0001c0003t0001g0290 a0001c0003t0001g0296 a0001c0003t0002g0085 a0001c0003t0002g0306 a0001c0003t0003g0165 a0001c0003t0003g0172 a0001c0003t0003g0176 a0001c0003t0003g0178 a0001c0003t0003g0180 a0001c0003t0003g0199 a0001c0003t0003g0202 a0001c0003t0003g0203 a0001c0003t0003g0204 a0001c0003t0003g0325 a0001c0003t0003g0326 a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0272 a0002c0002t0002g0071 a0002c0002t0002g0077 a0002c0002t0002g0081 a0002c0002t0002g0118 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0003g0194 a0002c0002t0003g0197 a0002c0002t0003g0198 a0002c0002t0006g0084 a0002c0002t0008g0331 a0002c0002t0008g0332 a0002c0005t0001g0004 a0002c0005t0001g0206 a0002c0005t0003g0162 a0002c0005t0003g0319 a0002c0005t0004g0246 a0002c0005t0005g0163 a0002c0005t0005g0210 a0002c0005t0006g0086 a0003c0004t0001g0177 a0003c0004t0003g0170 a0003c0004t0003g0190 a0003c0004t0003g0229	85	332	0.2560	29	c.60+ others(46): Show c.60+31998_60+31999insAGAAATGAGAATTTTACATGCTTGACAT A	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDC2_chr8_96488813_96616790	96576368	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0332 a0002c0002t0008g0332	1	301	0.0033	29	c.61- others(46): Show c.61-17107_61-17106insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDCCAG8_chr1_243251041_243505091	243327301	T T	TTTATAAT others(22): Show TTTATAATTTTATAGAAATTAAAATTATAA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02523.hp1 HG02717.hp2 others(7): Show HG01993.hp2 HG02523.hp1 HG02717.hp2 HG02976.hp1 HG03139.hp1 HG03471.hp2 HG03540.hp1 NA18522.hp2 NA18970.hp1 NA19043.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0003c0006 others(1): Show a0001c0001 a0001c0002 a0003c0006 a0005c0008	a0001c0001t0001 a0001c0002t0001 a0003c0006t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0003c0006t0001 a0005c0008t0001	a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0024 others(7): Show a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0063 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0002t0001g0162 a0003c0006t0001g0067 a0005c0008t0001g0128	10	187	0.0535	29	c.106 others(48): Show c.1069-3178_1069-3150dupATAATTTTATAGAAATTAAAATTATA ATT	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDF2_chr17_28643346_28666906	28663828	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01346.hp2 HG02135.hp2 others(7): Show HG00140.hp2 HG01346.hp2 HG02135.hp2 HG02683.hp1 HG03704.hp2 HG03831.hp1 NA18953.hp1 NA18953.hp2 NA19055.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0017 others(5): Show a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0176	10	12	0.8333	29	c.-19 others(40): Show c.-1953_-1952insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding		1923		chr17	TogoVar
SDHAF3_chr7_97112698_97186763	97183901	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	36	0.0278	29	c.26 others(40): Show c.2686_*2687insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SDHAF3	ENSG00000196636.8	transcript	ENST00000432641.3	protein_coding		2139		chr7	TogoVar
SDHC_chr1_161309381_161368206	161339662	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	56	0.0179	29	c.180 others(44): Show c.180-904_180-903insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	4074856	T T	TACTTCTC others(22): Show TACTTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0020 a0020	a0020c0063 a0020c0063	a0020c0063t0007 a0020c0063t0007	a0020c0063t0007g0106 a0020c0063t0007g0106	1	73	0.0137	29	c.301 others(48): Show c.3011-2142_3011-2141insACTTCTCTCTCTCTCTCTCTCTCTCT CTC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	20/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	4157474	G G	GAGAGAAG others(22): Show GAGAGAAGGAAGGAGAGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp2 HG02451.hp2 others(5): Show HG02145.hp2 HG02258.hp2 HG02451.hp2 HG02922.hp2 HG03041.hp1 HG03139.hp2 NA18522.hp1 NA20129.hp2	a0001 a0009 a0019 others(2): Show a0001 a0009 a0019 a0025 a0035	a0001c0017 a0001c0049 a0001c0092 others(4): Show a0001c0017 a0001c0049 a0001c0092 a0009c0020 a0019c0050 a0025c0081 a0035c0073	a0001c0017t0011 a0001c0049t0036 a0001c0092t0048 others(4): Show a0001c0017t0011 a0001c0049t0036 a0001c0092t0048 a0009c0020t0070 a0019c0050t0019 a0025c0081t0008 a0035c0073t0001	a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0049t0036g0109 others(5): Show a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0049t0036g0109 a0001c0092t0048g0057 a0009c0020t0070g0009 a0019c0050t0019g0092 a0025c0081t0008g0075 a0035c0073t0001g0016	8	75	0.1067	29	c.462 others(46): Show c.4626-972_4626-971insAGAAGGAAGGAGAGAAGGAAGGAAGGAA G	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	30/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4193156	T T	TATATATT others(22): Show TATATATTAAAATATTTATATATTGTATAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02735.hp2 HG01081.hp1 HG02735.hp2	a0001 a0008 a0001 a0008	a0001c0005 a0008c0078 a0001c0005 a0008c0078	a0001c0005t0051 a0008c0078t0001 a0001c0005t0051 a0008c0078t0001	a0001c0005t0051g0030 a0008c0078t0001g0074 a0001c0005t0051g0030 a0008c0078t0001g0074	2	116	0.0172	29	c.509 others(50): Show c.5099-12713_5099-12685dupAATATTTATATATTGTATAAATAT ATTAA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	35/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4263553	G G	GGGGAGGC others(22): Show GGGGAGGCCGCGTAGACCTCTCCTGAGTGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01361.hp1 HG00735.hp1 HG01361.hp1	a0005 a0017 a0005 a0017	a0005c0055 a0017c0035 a0005c0055 a0017c0035	a0005c0055t0055 a0017c0035t0005 a0005c0055t0055 a0017c0035t0005	a0005c0055t0055g0021 a0017c0035t0005g0058 a0005c0055t0055g0021 a0017c0035t0005g0058	2	116	0.0172	29	c.638 others(48): Show c.6382-1542_6382-1514dupAGGGAGGCCGCGTAGACCTCTCCTGA GTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4263638	G G	GGGGAGGC others(22): Show GGGGAGGCCGCGTAGACCTCTCCTGAGTGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0018 a0018	a0018c0024 a0018c0024	a0018c0024t0061 a0018c0024t0061	a0018c0024t0061g0013 a0018c0024t0061g0013	1	115	0.0087	29	c.638 others(48): Show c.6382-1470_6382-1469insCTCTCCTGAGTGAGGGAGGCCGCGTA GAC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4263752	G G	GGGGAGGC others(22): Show GGGGAGGCCGCGTAGACCTCTCCTGAGTGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG01934.hp2 others(17): Show HG01243.hp2 HG01891.hp1 HG01934.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG03098.hp1 HG03195.hp2 HG03540.hp1 NA19030.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0012 a0016 a0020 a0029	a0001c0002 a0001c0008 a0001c0027 others(15): Show a0001c0002 a0001c0008 a0001c0027 a0001c0034 a0001c0064 a0001c0091 a0001c0092 a0001c0093 a0001c0095 a0002c0012 a0002c0013 a0002c0041 a0002c0090 a0005c0056 a0012c0015 a0016c0045 a0020c0063 a0029c0084	a0001c0002t0040 a0001c0008t0007 a0001c0027t0020 others(15): Show a0001c0002t0040 a0001c0008t0007 a0001c0027t0020 a0001c0034t0028 a0001c0064t0006 a0001c0091t0010 a0001c0092t0048 a0001c0093t0006 a0001c0095t0029 a0002c0012t0016 a0002c0013t0015 a0002c0041t0007 a0002c0090t0010 a0005c0056t0006 a0012c0015t0017 a0016c0045t0015 a0020c0063t0007 a0029c0084t0045	a0001c0002t0040g0084 a0001c0008t0007g0067 a0001c0027t0020g0087 others(17): Show a0001c0002t0040g0084 a0001c0008t0007g0067 a0001c0027t0020g0087 a0001c0034t0028g0098 a0001c0064t0006g0111 a0001c0091t0010g0055 a0001c0092t0048g0057 a0001c0093t0006g0053 a0001c0095t0029g0050 a0002c0012t0016g0002 a0002c0012t0016g0003 a0002c0013t0015g0024 a0002c0041t0007g0108 a0002c0090t0010g0047 a0005c0056t0006g0097 a0012c0015t0017g0059 a0012c0015t0017g0066 a0016c0045t0015g0046 a0020c0063t0007g0106 a0029c0084t0045g0011	20	87	0.2299	29	c.638 others(48): Show c.6382-1344_6382-1343insAGGGAGGCCGCGTAGACCTCTCCTGA GTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4263959	G G	GCGTAGAC others(22): Show GCGTAGACCTCTCCTGAGTGAGGGAGGCCA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0072 a0011c0022t0072	a0011c0022t0072g0008 a0011c0022t0072g0008	1	108	0.0093	29	c.638 others(48): Show c.6382-1146_6382-1145insAGGGAGGCCACGTAGACCTCTCCTGA GTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4263978	G G	GGGGAGGC others(22): Show GGGGAGGCCGCGTAGACCTCTCCTGAGTGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0043 a0002c0043	a0002c0043t0035 a0002c0043t0035	a0002c0043t0035g0079 a0002c0043t0035g0079	1	77	0.0130	29	c.638 others(48): Show c.6382-1117_6382-1089dupAGGGAGGCCGCGTAGACCTCTCCTGA GTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4264051	C C	CCTCTCCT others(22): Show CCTCTCCTGAGTGAGGGTGGCCGCGTAGAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0005 a0005	a0005c0056 a0005c0056	a0005c0056t0006 a0005c0056t0006	a0005c0056t0006g0097 a0005c0056t0006g0097	1	109	0.0092	29	c.638 others(48): Show c.6382-1061_6382-1060insAGGGTGGCCGCGTAGAACTCTCCTGA GTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4264051	C C	CCTCTCCT others(22): Show CCTCTCCTGAGTGAGGGTGGCCGCGTGGAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02717.hp1 HG02809.hp2 others(3): Show HG02451.hp2 HG02717.hp1 HG02809.hp2 HG02896.hp1 HG03041.hp1 NA20129.hp1	a0001 a0002 a0019 others(1): Show a0001 a0002 a0019 a0025	a0001c0011 a0001c0037 a0001c0060 others(3): Show a0001c0011 a0001c0037 a0001c0060 a0002c0013 a0019c0050 a0025c0081	a0001c0011t0008 a0001c0037t0002 a0001c0060t0041 others(3): Show a0001c0011t0008 a0001c0037t0002 a0001c0060t0041 a0002c0013t0064 a0019c0050t0019 a0025c0081t0008	a0001c0011t0008g0028 a0001c0037t0002g0077 a0001c0060t0041g0080 others(3): Show a0001c0011t0008g0028 a0001c0037t0002g0077 a0001c0060t0041g0080 a0002c0013t0064g0023 a0019c0050t0019g0092 a0025c0081t0008g0075	6	114	0.0526	29	c.638 others(48): Show c.6382-1061_6382-1060insAGGGTGGCCGCGTGGAACTCTCCTGA GTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4264137	C C	CCTCTCCT others(22): Show CCTCTCCTGAGTGAGGGTGGCCGCGTAGAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA20752.hp1 HG02735.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0009 a0001c0002 a0002c0009	a0001c0002t0004 a0002c0009t0056 a0001c0002t0004 a0002c0009t0056	a0001c0002t0004g0104 a0002c0009t0056g0044 a0001c0002t0004g0104 a0002c0009t0056g0044	2	116	0.0172	29	c.638 others(46): Show c.6382-974_6382-946dupAGGGTGGCCGCGTAGAACTCTCCTGAGT G	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4264441	A A	AAGGCCGC others(22): Show AAGGCCGCATGGACCTCTCCTGAGTGAGGG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0031 a0031	a0031c0069 a0031c0069	a0031c0069t0069 a0031c0069t0069	a0031c0069t0069g0064 a0031c0069t0069g0064	1	62	0.0161	29	c.638 others(46): Show c.6382-676_6382-675insATGGACCTCTCCTGAGTGAGGGAGGCCG C	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4264441	A A	AAGGCCGC others(22): Show AAGGCCGCGTGGACCTCTCCTGAGTGAGGG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01167.hp1 HG01243.hp1 others(10): Show HG00408.hp2 HG01167.hp1 HG01243.hp1 HG01934.hp2 HG02258.hp2 HG02559.hp2 HG02809.hp1 HG02922.hp2 HG03041.hp2 HG03195.hp1 HG03453.hp2 HG03491.hp1 NA20300.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0009 a0015 a0026	a0001c0008 a0001c0017 a0001c0027 others(9): Show a0001c0008 a0001c0017 a0001c0027 a0001c0061 a0001c0072 a0002c0053 a0005c0056 a0005c0057 a0005c0058 a0009c0019 a0015c0074 a0026c0028	a0001c0008t0007 a0001c0017t0011 a0001c0027t0020 others(9): Show a0001c0008t0007 a0001c0017t0011 a0001c0027t0020 a0001c0061t0031 a0001c0072t0065 a0002c0053t0067 a0005c0056t0006 a0005c0057t0013 a0005c0058t0012 a0009c0019t0074 a0015c0074t0042 a0026c0028t0049	a0001c0008t0007g0067 a0001c0017t0011g0051 a0001c0017t0011g0052 others(10): Show a0001c0008t0007g0067 a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0027t0020g0087 a0001c0061t0031g0100 a0001c0072t0065g0027 a0002c0053t0067g0034 a0005c0056t0006g0097 a0005c0057t0013g0045 a0005c0058t0012g0063 a0009c0019t0074g0006 a0015c0074t0042g0081 a0026c0028t0049g0035	13	74	0.1757	29	c.638 others(46): Show c.6382-570_6382-542dupAGGGAGGCCGCGTGGACCTCTCCTGAGT G	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02165.hp1 HG02970.hp1 others(3): Show HG01099.hp2 HG02165.hp1 HG02970.hp1 HG02976.hp1 NA18970.hp2 NA19066.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0021	a0001c0001 a0001c0014 a0002c0059 others(2): Show a0001c0001 a0001c0014 a0002c0059 a0005c0038 a0021c0096	a0001c0001t0015 a0001c0014t0004 a0001c0014t0006 others(3): Show a0001c0001t0015 a0001c0014t0004 a0001c0014t0006 a0002c0059t0063 a0005c0038t0007 a0021c0096t0044	a0001c0001t0015g0073 a0001c0014t0004g0171 a0001c0014t0006g0115 others(3): Show a0001c0001t0015g0073 a0001c0014t0004g0171 a0001c0014t0006g0115 a0002c0059t0063g0145 a0005c0038t0007g0052 a0021c0096t0044g0155	6	57	0.1053	29	c.559 others(48): Show c.5594-2538_5594-2537insAAAAAAAAAAATATATATATATATAT ATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(22): Show ATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA19074.hp2 NA18942.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0109 a0001c0001 a0001c0109	a0001c0001t0015 a0001c0109t0049 a0001c0001t0015 a0001c0109t0049	a0001c0001t0015g0050 a0001c0109t0049g0007 a0001c0001t0015g0050 a0001c0109t0049g0007	2	53	0.0377	29	c.559 others(48): Show c.5594-2538_5594-2537insAAAAAAAAAAAAATATATATATATAT ATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73509902	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02717.hp2 NA18522.hp2 others(4): Show HG00642.hp2 HG02717.hp2 NA18522.hp2 NA18612.hp2 NA19010.hp2 NA19080.hp1 NA19240.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0026 a0001c0039 a0001c0067 a0008c0047	a0001c0001t0002 a0001c0002t0096 a0001c0006t0002 others(4): Show a0001c0001t0002 a0001c0002t0096 a0001c0006t0002 a0001c0026t0035 a0001c0039t0047 a0001c0067t0014 a0008c0047t0023	a0001c0001t0002g0027 a0001c0002t0096g0125 a0001c0006t0002g0078 others(4): Show a0001c0001t0002g0027 a0001c0002t0096g0125 a0001c0006t0002g0078 a0001c0026t0035g0071 a0001c0039t0047g0147 a0001c0067t0014g0025 a0008c0047t0023g0019	7	56	0.1250	29	c.65- others(44): Show c.65-2306_65-2305insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73614734	A A	AGGGAGGG others(22): Show AGGGAGGGAGGGGGACAAGGATTGAAAAGG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0006 a0006	a0006c0056 a0006c0056	a0006c0056t0002 a0006c0056t0002	a0006c0056t0002g0163 a0006c0056t0002g0163	1	202	0.0050	29	c.64+ others(46): Show c.64+29262_64+29290dupCCTTTTCAATCCTTGTCCCCCTCCCTCC C	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73614767	A A	AGGGAGGG others(22): Show AGGGAGGGAGGGGGACAAGGATTGAAAAGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00639.hp2 others(36): Show HG00280.hp2 HG00323.hp2 HG00639.hp2 HG00738.hp1 HG01081.hp2 HG01169.hp1 HG01192.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01981.hp2 HG02074.hp1 HG02083.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02486.hp1 HG02717.hp1 HG02735.hp2 HG03017.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03688.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp2 NA18522.hp1 NA18993.hp2 NA19010.hp1 NA19043.hp2 NA19074.hp1 NA19240.hp2 NA20905.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0009 a0013 a0014 a0022 a0024 a0025 a0026	a0001c0001 a0001c0002 a0001c0004 others(29): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0014 a0001c0015 a0001c0023 a0001c0024 a0001c0033 a0001c0053 a0001c0070 a0001c0111 a0002c0079 a0002c0102 a0003c0009 a0003c0017 a0004c0027 a0004c0049 a0004c0066 a0004c0080 a0005c0012 a0005c0037 a0009c0021 a0013c0077 a0014c0086 a0022c0081 a0024c0091 a0025c0055 a0026c0074	a0001c0001t0001 a0001c0002t0001 a0001c0002t0041 others(33): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0041 a0001c0004t0001 a0001c0005t0001 a0001c0005t0024 a0001c0005t0050 a0001c0006t0014 a0001c0006t0020 a0001c0007t0003 a0001c0008t0030 a0001c0014t0004 a0001c0015t0030 a0001c0023t0017 a0001c0024t0009 a0001c0033t0052 a0001c0053t0022 a0001c0070t0083 a0001c0111t0001 a0002c0079t0002 a0002c0102t0021 a0003c0009t0002 a0003c0017t0005 a0004c0027t0011 a0004c0049t0002 a0004c0066t0018 a0004c0080t0054 a0005c0012t0074 a0005c0037t0057 a0009c0021t0004 a0013c0077t0036 a0014c0086t0012 a0022c0081t0001 a0024c0091t0008 a0025c0055t0066 a0026c0074t0009	a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0002t0001g0139 others(36): Show a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0002t0001g0139 a0001c0002t0041g0022 a0001c0004t0001g0112 a0001c0005t0001g0053 a0001c0005t0024g0189 a0001c0005t0050g0032 a0001c0006t0014g0201 a0001c0006t0020g0202 a0001c0007t0003g0014 a0001c0007t0003g0026 a0001c0007t0003g0028 a0001c0008t0030g0104 a0001c0014t0004g0171 a0001c0015t0030g0131 a0001c0023t0017g0187 a0001c0024t0009g0186 a0001c0033t0052g0002 a0001c0053t0022g0040 a0001c0070t0083g0005 a0001c0111t0001g0203 a0002c0079t0002g0199 a0002c0102t0021g0055 a0003c0009t0002g0200 a0003c0017t0005g0191 a0004c0027t0011g0035 a0004c0049t0002g0170 a0004c0066t0018g0031 a0004c0080t0054g0081 a0005c0012t0074g0181 a0005c0037t0057g0148 a0009c0021t0004g0192 a0013c0077t0036g0188 a0014c0086t0012g0204 a0022c0081t0001g0182 a0024c0091t0008g0185 a0025c0055t0066g0063 a0026c0074t0009g0113	39	200	0.1950	29	c.64+ others(46): Show c.64+29229_64+29257dupCCTTTTCAATCCTTGTCCCCCTCCCTCC C	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44			chr17	TogoVar
SDS_chr12_113387445_113408887	113389025	C C	CCAGCTGC others(22): Show CCAGCTGCATTCCCACGGGTGGCCCTGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	342	0.0029	29	c.38 others(40): Show c.3887_*3915dupCTCCAGGGCCACCCGTGGGAATGCAGCTG	SDS	ENSG00000135094.11	transcript	ENST00000257549.9	protein_coding		3419		chr12	TogoVar
SEC14L1_chr17_77135969_77222101	77215955	T T	TTCGTAGG others(22): Show TTCGTAGGTAGGGCTAGTAGGTAGGGTTAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0081 a0001c0001t0046g0081	1	422	0.0024	29	c.19 others(40): Show c.1933_*1934insCGTAGGTAGGGCTAGTAGGTAGGGTTAGT	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	17/17	1934	INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L4_chr22_30483902_30510695	30501846	C C	CATATATA others(22): Show CATATATATATAATATTAGTATATATTAAT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0109 a0001c0003t0003g0109	1	60	0.0167	29	c.130 others(46): Show c.130+1830_130+1831insATTAATATATACTAATATTATATATATA T	SEC14L4	ENSG00000133488.15	transcript	ENST00000255858.12	protein_coding	2/11			chr22	TogoVar
SEC24D_chr4_118717823_118841126	118751176	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	195	0.0051	29	c.170 others(46): Show c.1707+819_1707+820insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SEC24D	ENSG00000150961.15	transcript	ENST00000280551.11	protein_coding	13/22			chr4	TogoVar
SEC61G_chr7_54747253_54764211	54760999	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	125	0.0080	29	c.-18 others(40): Show c.-1849_-1848insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SEC61G	ENSG00000132432.14	transcript	ENST00000352861.9	protein_coding		1789		chr7	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(22): Show CATATATATATATATTCCATATATATATAT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18982.hp2 NA18956.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0012 a0001c0001t0002g0013	2	40	0.0500	29	c.115 others(46): Show c.115-2706_115-2705insATATATATATATGGAATATATATATATA T	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13939040	G G	GGTTTTTT others(22): Show GGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp1 HG02071.hp1 others(2): Show HG01081.hp2 HG01109.hp1 HG02071.hp1 HG02083.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0025 a0001c0001t0002g0037 others(2): Show a0001c0001t0002g0018 a0001c0001t0002g0025 a0001c0001t0002g0037 a0001c0001t0002g0042 a0001c0001t0002g0053	5	15	0.3333	29	c.115 others(46): Show c.115-7270_115-7269insAAAAAAAAAAAAAAAAAAAAAAAAAAAA C	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13983023	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	8	0.1250	29	c.58+ others(44): Show c.58+7453_58+7454insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	1/19			chr20	TogoVar
SELENBP1_chr1_151359304_151377705	151367355	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	81	0.0123	29	c.482 others(44): Show c.482-452_482-451insCTTTTCTTTTTTTTTTTTTTTTTTTTTTT	SELENBP1	ENSG00000143416.21	transcript	ENST00000368868.10	protein_coding	5/11			chr1	TogoVar
SELENOT_chr3_150598321_150635436	150631202	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 NA18944.hp2 HG01099.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0203 a0001c0001t0002g0005 a0001c0001t0002g0203	2	32	0.0625	29	c.35 others(40): Show c.3573_*3574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SELENOT	ENSG00000198843.14	transcript	ENST00000471696.6	protein_coding		767		chr3	TogoVar
SELE_chr1_169717640_169739079	169737410	T T	TATATAGA others(22): Show TATATAGATATTTTTATATTTTATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG03491.hp2 HG01109.hp2 HG03491.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0010 a0001c0001 a0008c0010	a0001c0001t0001 a0008c0010t0003 a0001c0001t0001 a0008c0010t0003	a0001c0001t0001g0007 a0008c0010t0003g0032 a0001c0001t0001g0007 a0008c0010t0003g0032	2	411	0.0049	29	c.-35 others(40): Show c.-3517_-3489dupTTATATATAAAATATAAAAATATCTATAT	SELE	ENSG00000007908.16	transcript	ENST00000333360.12	protein_coding		3332		chr1	TogoVar
SEMA3E_chr7_83358238_83654139	83389701	C C	CACATATA others(22): Show CACATATATACACGTATATATTACATGTAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG01261.hp2 others(12): Show HG00408.hp1 HG00597.hp2 HG01261.hp2 HG01934.hp1 HG02056.hp2 HG02129.hp1 HG02523.hp2 HG03195.hp1 HG03654.hp2 NA18939.hp1 NA18946.hp1 NA18961.hp1 NA19060.hp1 NA19240.hp1 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0015 a0001c0003 a0001c0005 a0001c0015	a0001c0003t0001 a0001c0005t0011 a0001c0015t0001 a0001c0003t0001 a0001c0005t0011 a0001c0015t0001	a0001c0003t0001g0030 a0001c0003t0001g0049 a0001c0003t0001g0063 others(12): Show a0001c0003t0001g0030 a0001c0003t0001g0049 a0001c0003t0001g0063 a0001c0003t0001g0080 a0001c0003t0001g0089 a0001c0003t0001g0097 a0001c0003t0001g0107 a0001c0003t0001g0115 a0001c0003t0001g0116 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0151 a0001c0005t0011g0222 a0001c0005t0011g0225 a0001c0015t0001g0163	15	165	0.0909	29	c.166 others(48): Show c.1668-2680_1668-2652dupATACATGTAATATATACGTGTATATA TGT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83389744	T T	TATATATT others(22): Show TATATATTACATGTATACATATATACACGC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0068 a0001c0002t0003g0068	1	213	0.0047	29	c.166 others(48): Show c.1668-2695_1668-2694insGCGTGTATATATGTATACATGTAATA TAT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83389773	T T	TATATATT others(22): Show TATATATTACATGTATACATATATACACGC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0065 a0001c0002t0003g0065	1	223	0.0045	29	c.166 others(48): Show c.1668-2724_1668-2723insGCGTGTATATATGTATACATGTAATA TAT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16			chr7	TogoVar
SEMA4D_chr9_89372235_89503113	89450660	G G	GGAAAAAA others(22): Show GGAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0095 a0001c0001t0010g0095	1	219	0.0046	29	c.-24 others(48): Show c.-244+5227_-244+5228insTTTTTTTTTTTTTTTTTTTTTTTTTT TTC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	2/15			chr9	TogoVar

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