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
SCNN1A_chr12_6341847_6380563	6369319	A A	ACCTCCCT others(16): Show ACCTCCCTCCTGCCACCCTACGCG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0339 a0003c0003t0001g0339	1	443	0.0023	23	c.416 others(40): Show c.416+5048_416+5049insCGCGTAGGGTGGCAGGAGGGAGG		SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	2/12						chr12	TogoVar
SCNN1B_chr16_23297302_23386294	23365617	G G	GAGAGAGA others(16): Show GAGAGAGAGAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG04228.hp2 HG02717.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0156 a0001c0001t0001g0071 a0001c0001t0001g0156	2	205	0.0098	23	c.777 others(40): Show c.777-2238_777-2237insGAGAGAGAGAAAGAAAGAAAGAA		SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23365620	A A	AGAGAGAG others(16): Show AGAGAGAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03834.hp1 NA18953.hp2 HG03669.hp1 HG03834.hp1 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0233 a0001c0001t0001g0306 a0001c0001t0001g0104 a0001c0001t0001g0233 a0001c0001t0001g0306	3	181	0.0166	23	c.777 others(40): Show c.777-2236_777-2235insGAGAGAGAAAGAAAGAAAGAAAG		SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	4/12						chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23377574	C C	CCCTTCCT others(16): Show CCCTTCCTTCATTCCTTCTCCCTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00408.hp1 others(127): Show HG00099.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01952.hp2 HG01993.hp1 HG02004.hp1 HG02071.hp2 HG02074.hp1 HG02109.hp1 HG02135.hp1 HG02165.hp2 HG02257.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG06807.hp1 NA18747.hp1 NA18906.hp2 NA18941.hp2 NA18944.hp1 NA18948.hp1 NA18948.hp2 NA18952.hp2 NA18955.hp1 NA18957.hp2 NA18959.hp2 NA18965.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18991.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19057.hp1 NA19060.hp1 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0009 a0001c0015 a0002c0004 a0006c0016 a0007c0014	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 a0001c0002t0005 a0001c0003t0001 a0001c0006t0001 a0001c0008t0001 a0001c0008t0003 a0001c0009t0001 a0001c0015t0001 a0002c0004t0001 a0006c0016t0001 a0007c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(127): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0180 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0205 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0268 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0284 a0001c0001t0001g0297 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0306 a0001c0001t0004g0085 a0001c0001t0007g0292 a0001c0002t0001g0028 a0001c0002t0001g0057 a0001c0002t0001g0101 a0001c0002t0001g0111 a0001c0002t0001g0145 a0001c0002t0001g0175 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0199 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0214 a0001c0002t0001g0225 a0001c0002t0001g0305 a0001c0002t0005g0150 a0001c0003t0001g0068 a0001c0003t0001g0074 a0001c0003t0001g0077 a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0084 a0001c0003t0001g0090 a0001c0003t0001g0102 a0001c0003t0001g0131 a0001c0003t0001g0135 a0001c0003t0001g0139 a0001c0003t0001g0206 a0001c0003t0001g0229 a0001c0003t0001g0247 a0001c0003t0001g0270 a0001c0003t0001g0271 a0001c0003t0001g0289 a0001c0003t0001g0290 a0001c0003t0001g0291 a0001c0003t0001g0294 a0001c0006t0001g0044 a0001c0006t0001g0046 a0001c0006t0001g0257 a0001c0008t0001g0228 a0001c0008t0001g0293 a0001c0008t0003g0091 a0001c0009t0001g0163 a0001c0015t0001g0073 a0002c0004t0001g0021 a0002c0004t0001g0032 a0006c0016t0001g0076 a0007c0014t0001g0078	130	220	0.5909	23	c.140 others(40): Show c.1404+195_1404+196insTCATTCCTTCTCCCTTCCTTCCT		SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23377574	C C	CCCTTCCT others(16): Show CCCTTCCTTTCTTCCTTCTCCCTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp1 HG02896.hp2 others(5): Show HG02258.hp2 HG02280.hp1 HG02896.hp2 HG02976.hp1 HG03195.hp2 HG03486.hp1 NA19043.hp2 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0011 a0002c0004 others(1): Show a0001c0001 a0001c0011 a0002c0004 a0003c0005	a0001c0001t0001 a0001c0011t0001 a0002c0004t0001 others(1): Show a0001c0001t0001 a0001c0011t0001 a0002c0004t0001 a0003c0005t0001	a0001c0001t0001g0103 a0001c0011t0001g0013 a0002c0004t0001g0005 others(5): Show a0001c0001t0001g0103 a0001c0011t0001g0013 a0002c0004t0001g0005 a0002c0004t0001g0082 a0003c0005t0001g0004 a0003c0005t0001g0066 a0003c0005t0001g0067 a0003c0005t0001g0075	8	98	0.0816	23	c.140 others(40): Show c.1404+195_1404+196insTTCTTCCTTCTCCCTTCCTTCCT		SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23180597	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01175.hp2 HG02135.hp1 others(2): Show HG00639.hp1 HG01175.hp2 HG02135.hp1 HG02976.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0003t0002 a0001c0001t0001 a0001c0001t0005 a0001c0003t0002	a0001c0001t0001g0181 a0001c0001t0005g0164 a0001c0003t0002g0094 others(2): Show a0001c0001t0001g0181 a0001c0001t0005g0164 a0001c0003t0002g0094 a0001c0003t0002g0095 a0001c0003t0002g0140	5	59	0.0847	23	c.-22 others(34): Show c.-2261_-2260insAAAAAAAAAAAAAAAAAAAAAAA		SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding					2147		chr16	TogoVar
SCP2_chr1_52922276_53056698	53037905	C C	CACAGATC others(16): Show CACAGATCCAGATCCTGTCTCTAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03130.hp2 HG03139.hp2 others(5): Show HG02818.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0010 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0010 a0001c0002t0002 a0001c0003t0002	a0001c0001t0002g0182 a0001c0001t0010g0173 a0001c0001t0010g0174 others(5): Show a0001c0001t0002g0182 a0001c0001t0010g0173 a0001c0001t0010g0174 a0001c0002t0002g0138 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0003t0002g0003	8	276	0.0290	23	c.133 others(42): Show c.1339-1009_1339-1008insGATCCAGATCCTGTCTCTATACA		SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	13/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCRT1_chr8_144325565_144341482	144336243	C C	CACCATCG others(16): Show CACCATCGAGGAGCGGCGGAGCCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0068 a0001c0001t0043g0068	1	396	0.0025	23	c.-75 others(30): Show c.-75_-74insCGGCTCCGCCGCTCCTCGATGGT		SCRT1	ENSG00000261678.3	transcript	ENST00000569446.3	protein_coding	1/2				75		chr8	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02895.hp1 HG02738.hp2 HG02895.hp1	a0004 a0004	a0004c0004 a0004c0035 a0004c0004 a0004c0035	a0004c0004t0007 a0004c0035t0004 a0004c0004t0007 a0004c0035t0004	a0004c0004t0007g0283 a0004c0035t0004g0272 a0004c0004t0007g0283 a0004c0035t0004g0272	2	122	0.0164	23	c.120 others(40): Show c.1208-967_1208-966insAAAAAAATATATATATATATATA		SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22						chr11	TogoVar
SCYGR1_chr2_227382683_227392949	227389895	T T	TTTCTTTT others(16): Show TTTCTTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp2 HG02698.hp1 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	2	452	0.0044	23	c.-19 others(34): Show c.-1947_-1946insGAAAAGAAAAGAAAAGAAAAGAA		SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding					1947		chr2	TogoVar
SCYL3_chr1_169844631_169898896	169850980	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp2 NA19002.hp2 HG02486.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0054 a0001c0001t0053 a0001c0001t0054	a0001c0001t0053g0181 a0001c0001t0054g0090 a0001c0001t0053g0181 a0001c0001t0054g0090	2	301	0.0066	23	c.27 others(34): Show c.2710_*2732dupAAAAAAAAAAAAAAAAAAAAAAA		SCYL3	ENSG00000000457.14	transcript	ENST00000367771.11	protein_coding	13/13				2732		chr1	TogoVar
SDC2_chr8_96488813_96616790	96565084	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA19062.hp2 HG02723.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0011 a0001c0003t0001 a0001c0001t0011 a0001c0003t0001	a0001c0001t0011g0259 a0001c0003t0001g0238 a0001c0001t0011g0259 a0001c0003t0001g0238	2	75	0.0267	23	c.61- others(40): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTTTTTTTT		SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr8	TogoVar
SDF2_chr17_28643346_28666906	28663828	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01496.hp2 HG02258.hp1 others(4): Show HG01106.hp2 HG01496.hp2 HG02258.hp1 HG02723.hp2 NA18945.hp2 NA19003.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0025 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0064 a0001c0001t0001g0111 a0001c0001t0002g0008	7	9	0.7778	23	c.-19 others(34): Show c.-1953_-1952insAAAAAAAAAAAAAAAAAAAAAAA		SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding					1923		chr17	TogoVar
SDHAF2_chr11_61425124_61451733	61434591	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0100 a0001c0001t0005g0100	1	172	0.0058	23	c.37- others(38): Show c.37-3015_37-3014insTTTTTTTTTTTTTTTTTTTTTTT		SDHAF2	ENSG00000167985.7	transcript	ENST00000301761.7	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr11	TogoVar
SDHAF3_chr7_97112698_97186763	97183901	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG00733.hp2 others(48): Show HG00609.hp1 HG00609.hp2 HG00733.hp2 HG01069.hp2 HG01070.hp2 HG01099.hp2 HG01261.hp2 HG01346.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02027.hp1 HG02071.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02280.hp1 HG02293.hp2 HG02965.hp1 HG03139.hp2 HG03669.hp2 HG04184.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18949.hp2 NA18951.hp1 NA18960.hp2 NA18962.hp2 NA18975.hp1 NA18979.hp1 NA18985.hp2 NA18990.hp2 NA18993.hp1 NA18998.hp2 NA18999.hp1 NA19006.hp2 NA19066.hp1 NA19066.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009	a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 others(47): Show a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0207 a0001c0001t0001g0261 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0284 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0305 a0001c0001t0001g0311 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0330 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0336 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0352 a0001c0001t0001g0355 a0001c0001t0001g0358 a0001c0001t0001g0362 a0001c0001t0001g0364 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0002g0048 a0001c0001t0002g0055 a0001c0001t0002g0093 a0001c0001t0002g0187 a0001c0001t0006g0369 a0001c0001t0006g0370 a0001c0001t0009g0229	51	86	0.5930	23	c.26 others(34): Show c.2686_*2687insTTTTTTTTTTTTTTTTTTTTTTT		SDHAF3	ENSG00000196636.8	transcript	ENST00000432641.3	protein_coding					2139		chr7	TogoVar
SDHC_chr1_161309381_161368206	161339662	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02080.hp1 HG03225.hp1 others(2): Show HG02015.hp1 HG02080.hp1 HG03225.hp1 NA18984.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0080 a0001c0001t0001g0149 others(2): Show a0001c0001t0001g0071 a0001c0001t0001g0080 a0001c0001t0001g0149 a0001c0001t0001g0179 a0001c0001t0001g0221	5	60	0.0833	23	c.180 others(38): Show c.180-926_180-904dupTTTTTTTTTTTTTTTTTTTTTTT		SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3319878	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01361.hp2 HG01516.hp1 others(6): Show HG01099.hp1 HG01361.hp2 HG01516.hp1 HG02145.hp1 HG02602.hp2 HG02897.hp1 HG03041.hp2 HG03225.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0008 a0001c0025 others(4): Show a0001c0002 a0001c0008 a0001c0025 a0001c0036 a0001c0061 a0002c0009 a0002c0066	a0001c0002t0002 a0001c0002t0004 a0001c0002t0040 others(6): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0040 a0001c0008t0004 a0001c0025t0024 a0001c0036t0033 a0001c0061t0031 a0002c0009t0004 a0002c0066t0023	a0001c0002t0002g0096 a0001c0002t0004g0104 a0001c0002t0040g0084 others(6): Show a0001c0002t0002g0096 a0001c0002t0004g0104 a0001c0002t0040g0084 a0001c0008t0004g0095 a0001c0025t0024g0089 a0001c0036t0033g0116 a0001c0061t0031g0100 a0002c0009t0004g0093 a0002c0066t0023g0088	9	40	0.2250	23	c.298 others(42): Show c.298+18011_298+18012insTTTTTTTTTTTTTTTTTTTTTTT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4074856	T T	TACTTCTC others(16): Show TACTTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02647.hp2 HG00738.hp2 HG02647.hp2	a0001 a0021 a0001 a0021	a0001c0007 a0021c0068 a0001c0007 a0021c0068	a0001c0007t0021 a0021c0068t0014 a0001c0007t0021 a0021c0068t0014	a0001c0007t0021g0110 a0021c0068t0014g0014 a0001c0007t0021g0110 a0021c0068t0014g0014	2	74	0.0270	23	c.301 others(42): Show c.3011-2142_3011-2141insACTTCTCTCTCTCTCTCTCTCTC		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	20/44						chr7	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0099 a0001c0041t0099	a0001c0041t0099g0127 a0001c0041t0099g0127	1	52	0.0192	23	c.559 others(42): Show c.5594-2538_5594-2537insAAAAAAAAATATATATATATATA		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44						chr17	TogoVar
SDK2_chr17_73329384_73649445	73355175	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	190	0.0053	23	c.559 others(42): Show c.5594-2539_5594-2538insTATATATATATATATATATATAT		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44						chr17	TogoVar
SDK2_chr17_73329384_73649445	73509902	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG02145.hp1 others(4): Show HG01243.hp2 HG01891.hp1 HG02145.hp1 HG02155.hp1 HG02738.hp2 HG03834.hp1 HG06807.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0008 a0010	a0001c0003 a0001c0013 a0001c0068 others(4): Show a0001c0003 a0001c0013 a0001c0068 a0003c0009 a0004c0011 a0008c0069 a0010c0099	a0001c0003t0020 a0001c0013t0013 a0001c0068t0007 others(4): Show a0001c0003t0020 a0001c0013t0013 a0001c0068t0007 a0003c0009t0002 a0004c0011t0091 a0008c0069t0102 a0010c0099t0013	a0001c0003t0020g0156 a0001c0013t0013g0193 a0001c0068t0007g0119 others(4): Show a0001c0003t0020g0156 a0001c0013t0013g0193 a0001c0068t0007g0119 a0003c0009t0002g0200 a0004c0011t0091g0105 a0008c0069t0102g0118 a0010c0099t0013g0135	7	56	0.1250	23	c.65- others(38): Show c.65-2306_65-2305insTTTTTTTTTTTTTTTTTTTTTTT		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44						chr17	TogoVar
SDK2_chr17_73329384_73649445	73545127	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	199	0.0050	23	c.65- others(40): Show c.65-37531_65-37530insGTGTGTGTGTGTGTGTGTGTGTG		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44						chr17	TogoVar
SDR16C5_chr8_56295005_56325175	56310137	A A	AGGAGAAG others(16): Show AGGAGAAGGAAGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp1 HG01243.hp2 others(14): Show HG01109.hp2 HG01167.hp1 HG01243.hp2 HG01884.hp1 HG02257.hp1 HG02451.hp1 HG02572.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp1 HG02897.hp1 HG03098.hp1 HG03225.hp2 HG03516.hp2 HG03579.hp1 NA18906.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0100 a0001c0001t0001g0101 others(7): Show a0001c0001t0001g0007 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0167	17	395	0.0430	23	c.466 others(40): Show c.466-1111_466-1110insCTCCTCCTCCTCCTTCCTTCTCC		SDR16C5	ENSG00000170786.13	transcript	ENST00000303749.8	protein_coding	3/6						chr8	TogoVar
SDSL_chr12_113417380_113443276	113428008	C C	CCAAGCAG others(16): Show CCAAGCAGGAGCCCTTTCACGTGG	frameshift_variant frameshift_variant	HIGH	HG03540.hp1 HG03540.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0097 a0006c0007t0001g0097	1	296	0.0034	23	c.27_ others(28): Show c.27_49dupCAAGCAGGAGCCCTTTCACGTGG	p.Val others(4): Show p.Val17fs	SDSL	ENSG00000139410.15	transcript	ENST00000403593.9	protein_coding	2/8	169/1306	50/990	17/329		INFO_REALIGN_3_PRIME	chr12	TogoVar
SEC14L3_chr22_30454229_30477017	30455106	A A	AATATTTA others(16): Show AATATTTAATATTTAATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	442	0.0023	23	c.48 others(34): Show c.4892_*4914dupAATATATATTAAATATTAAATAT		SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding					4122		chr22	TogoVar
SEC14L3_chr22_30454229_30477017	30455119	T T	TAATATAC others(16): Show TAATATACATTATATTTAATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG03239.hp2 HG00323.hp2 HG03239.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0006 a0007c0010t0006	a0007c0010t0006g0060 a0007c0010t0006g0060	2	446	0.0045	23	c.49 others(34): Show c.4901_*4902insTAATATTAAATATAATGTATATT		SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding					4109		chr22	TogoVar
SEC24A_chr5_134643785_134732909	134705091	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18991.hp1 NA18946.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0015 a0001c0001t0006 a0001c0001t0015	a0001c0001t0006g0051 a0001c0001t0015g0023 a0001c0001t0006g0051 a0001c0001t0015g0023	2	305	0.0066	23	c.244 others(40): Show c.2441-236_2441-235insATATATATATATATATATATATA		SEC24A	ENSG00000113615.13	transcript	ENST00000398844.7	protein_coding	16/22						chr5	TogoVar
SEC61A2_chr10_12124677_12170407	12127557	G G	GCCCCCCC others(16): Show GCCCCCCCACCCCCCCCCCCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG03486.hp1 HG02809.hp2 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0127 a0001c0003t0001g0130 a0001c0003t0001g0127 a0001c0003t0001g0130	2	81	0.0247	23	c.-22 others(34): Show c.-2231_-2230insCCCCCCCACCCCCCCCCCCACCC		SEC61A2	ENSG00000065665.21	transcript	ENST00000298428.14	protein_coding					2119		chr10	TogoVar
SEC61G_chr7_54747253_54764211	54760999	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 NA18973.hp1 NA19080.hp2 HG03041.hp2 NA18973.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0004 a0001c0001t0001g0007	3	127	0.0236	23	c.-18 others(34): Show c.-1849_-1848insTTTTTTTTTTTTTTTTTTTTTTT		SEC61G	ENSG00000132432.14	transcript	ENST00000352861.9	protein_coding					1789		chr7	TogoVar
SEL1L2_chr20_13844247_13995614	13939035	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02717.hp1 HG02559.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0214 a0001c0001t0001g0173 a0001c0001t0001g0214	2	249	0.0080	23	c.115 others(40): Show c.115-7265_115-7264insAAAAAAAAAAAAAAAAAAAAAAA		SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19						chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13983023	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	8	0.1250	23	c.58+ others(38): Show c.58+7431_58+7453dupTTTTTTTTTTTTTTTTTTTTTTT		SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	1/19						chr20	TogoVar
SELENBP1_chr1_151359304_151377705	151360296	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	185	0.0054	23	c.42 others(34): Show c.4246_*4247insAAAAAAAAAAAAAAAAAAAAAAA		SELENBP1	ENSG00000143416.21	transcript	ENST00000368868.10	protein_coding					4007		chr1	TogoVar
SELENBP1_chr1_151359304_151377705	151367355	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02630.hp2 NA18522.hp2 others(3): Show HG02109.hp1 HG02630.hp2 NA18522.hp2 NA18965.hp2 NA19072.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0094 a0001c0001t0001g0095 others(3): Show a0001c0001t0001g0078 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0115 a0001c0001t0001g0214 a0001c0001t0001g0217	6	86	0.0698	23	c.482 others(38): Show c.482-452_482-451insCTTTTCTTTTTTTTTTTTTTTTT		SELENBP1	ENSG00000143416.21	transcript	ENST00000368868.10	protein_coding	5/11						chr1	TogoVar
SELENON_chr1_25795193_25823221	25805643	T T	TTTCCCAC others(16): Show TTTCCCACACACTATGATGATTAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0023 a0001c0004t0012g0023	1	390	0.0026	23	c.537 others(38): Show c.537+379_537+401dupCTATGATGATTACTTCCCACACA		SELENON	ENSG00000162430.18	transcript	ENST00000361547.7	protein_coding	4/12					WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS&INFO_REALIGN_3_PRIME	chr1	TogoVar
SELENOT_chr3_150598321_150635436	150631202	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01346.hp1 HG02074.hp1 others(3): Show HG01255.hp2 HG01346.hp1 HG02074.hp1 NA18522.hp1 NA19007.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0041 a0001c0001t0002g0044 others(3): Show a0001c0001t0002g0008 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0002g0212	6	36	0.1667	23	c.35 others(34): Show c.3573_*3574insAAAAAAAAAAAAAAAAAAAAAAA		SELENOT	ENSG00000198843.14	transcript	ENST00000471696.6	protein_coding					767		chr3	TogoVar
SELENOV_chr19_39510139_39525675	39517964	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	161	0.0062	23	c.810 others(38): Show c.810-639_810-617dupAAAAAAAAAAAAAAAAAAAAAAA		SELENOV	ENSG00000186838.15	transcript	ENST00000335426.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
SEMA3A_chr7_83950777_84199789	83980623	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0133 a0001c0001t0004g0133	1	83	0.0120	23	c.165 others(40): Show c.1652+697_1652+698insATATATTTTTTTTTTTTTTTTTT		SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	14/16						chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83980623	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0188 a0001c0005t0004g0188	1	83	0.0120	23	c.165 others(40): Show c.1652+697_1652+698insATATATATTTTTTTTTTTTTTTT		SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	14/16						chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83980623	A A	ACAAAAAA others(16): Show ACAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0087 a0001c0001t0023g0087	1	83	0.0120	23	c.165 others(40): Show c.1652+697_1652+698insATATATTTTTTTTTTTTTTTTTG		SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	14/16						chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80754957	G G	GTTTTTTT others(16): Show GTTTTTTTTTTGTTTTTTTTGTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	194	0.0052	23	c.164 others(42): Show c.1643+3373_1643+3374insAAACAAAAAAAACAAAAAAAAAA		SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	15/17						chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80754957	G G	GTTTTTTT others(16): Show GTTTTTTTTTTGTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp2 HG01071.hp2 others(4): Show HG00280.hp1 HG00735.hp2 HG01071.hp2 HG01257.hp2 HG01515.hp1 HG02280.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0001 a0001c0002t0001 a0001c0012t0001 a0001c0001t0001 a0001c0002t0001 a0001c0012t0001	a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0240 others(4): Show a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0002t0001g0217 a0001c0012t0001g0040 a0001c0012t0001g0132	7	200	0.0350	23	c.164 others(42): Show c.1643+3373_1643+3374insAAAAAAAAAAAACAAAAAAAAAA		SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	15/17						chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80754957	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	194	0.0052	23	c.164 others(42): Show c.1643+3373_1643+3374insAAAAAAAAAAAAAAAAAAAAAAA		SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	15/17						chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80817608	C C	CATATTTG others(16): Show CATATTTGACTATACATTAGCTAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG02109.hp2 others(10): Show HG01243.hp2 HG02055.hp1 HG02109.hp2 HG02615.hp2 HG02717.hp2 HG02818.hp1 HG02895.hp2 HG03041.hp1 HG03471.hp2 NA18522.hp2 NA18906.hp2 NA19043.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008 a0003c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 a0001c0002t0001 a0001c0002t0013 a0001c0007t0003 a0001c0008t0006 a0001c0008t0009 a0003c0011t0004	a0001c0001t0001g0057 a0001c0001t0001g0128 a0001c0001t0001g0170 others(10): Show a0001c0001t0001g0057 a0001c0001t0001g0128 a0001c0001t0001g0170 a0001c0001t0004g0173 a0001c0001t0016g0123 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0013g0099 a0001c0007t0003g0050 a0001c0008t0006g0107 a0001c0008t0009g0121 a0003c0011t0004g0043 a0003c0011t0004g0122	13	242	0.0537	23	c.447 others(38): Show c.447+668_447+690dupATAGCTAATGTATAGTCAAATAT		SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	5/17						chr7	TogoVar
SEMA3D_chr7_84990553_85192056	85147092	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03195.hp2 HG02922.hp1 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0035 a0001c0001t0004 a0002c0002t0035	a0001c0001t0004g0230 a0002c0002t0035g0231 a0001c0001t0004g0230 a0002c0002t0035g0231	2	75	0.0267	23	c.-41 others(40): Show c.-41+6493_-41+6515dupAAAAAAAAAAAAAAAAAAAAAAA		SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	2/18						chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83454268	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0012 a0001c0010t0012	a0001c0010t0012g0012 a0001c0010t0012g0012	1	224	0.0045	23	c.456 others(42): Show c.456+12213_456+12214insATATATATATATATATATATATA		SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	4/16						chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83479311	C C	CTTAGCAT others(16): Show CTTAGCATTTTATTTGAAACTTTA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0056 a0001c0002t0056	a0001c0002t0056g0161 a0001c0002t0056g0161	1	224	0.0045	23	c.277 others(42): Show c.277-10010_277-10009insTAAAGTTTCAAATAAAATGCTAA		SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	2/16						chr7	TogoVar
SEMA4C_chr2_96854718_96875080	96855972	T T	TCAACAAC others(16): Show TCAACAACAACAACAACAACAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	347	0.0029	23	c.46 others(34): Show c.4631_*4653dupTTTTGTTGTTGTTGTTGTTGTTG		SEMA4C	ENSG00000168758.11	transcript	ENST00000305476.10	protein_coding					3745		chr2	TogoVar
SEMA4D_chr9_89372235_89503113	89461700	C C	CTCTCTCT others(16): Show CTCTCTCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG03490.hp2 HG04228.hp2 others(2): Show HG02083.hp1 HG03490.hp2 HG04228.hp2 NA18987.hp2 NA19064.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0007 a0001c0004t0004 a0001c0004t0025 a0001c0003t0007 a0001c0004t0004 a0001c0004t0025	a0001c0003t0007g0107 a0001c0004t0004g0184 a0001c0004t0004g0200 others(2): Show a0001c0003t0007g0107 a0001c0004t0004g0184 a0001c0004t0004g0200 a0001c0004t0004g0253 a0001c0004t0025g0181	5	130	0.0385	23	c.-30 others(42): Show c.-309-5748_-309-5747insAAAAAAAAAAAAAAAAAGAGAGA		SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15						chr9	TogoVar
SEMA5A_chr5_9030033_9551075	9109028	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA19030.hp1 HG03139.hp2 NA19030.hp1	a0001 a0001	a0001c0007 a0001c0008 a0001c0007 a0001c0008	a0001c0007t0025 a0001c0008t0027 a0001c0007t0025 a0001c0008t0027	a0001c0007t0025g0062 a0001c0008t0027g0035 a0001c0007t0025g0062 a0001c0008t0027g0035	2	31	0.0645	23	c.192 others(40): Show c.1926-764_1926-742dupAAAAAAAAAAAAAAAAAAAAAAA		SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	15/22						chr5	TogoVar
SEMA5B_chr3_122904082_123032763	122935686	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0247 a0002c0002t0001g0247	1	15	0.0667	23	c.474 others(40): Show c.474+3716_474+3738dupAAAAAAAAAAAAAAAAAAAAAAA		SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding	5/22						chr3	TogoVar

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