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
SMOC2_chr6_168436184_168672992	168537803	TGGATGCA others(18): Show TGGATGCAGTTCTGTCAGCACGAAGG	T T	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19000.hp2 NA18945.hp1 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0013 a0001c0002t0002g0007 a0001c0002t0002g0013	2	180	0.0111	-25	c.464 others(42): Show c.464-5818_464-5794delTGCAGTTCTGTCAGCACGAAGGGGA		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168610757	CATCATTT others(18): Show CATCATTTTATTATATGGCACAAGAG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA18522.hp2 HG01891.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0010 a0001c0002 a0002c0010	a0001c0002t0002 a0002c0010t0001 a0001c0002t0002 a0002c0010t0001	a0001c0002t0002g0038 a0002c0010t0001g0130 a0001c0002t0002g0038 a0002c0010t0001g0130	2	180	0.0111	-25	c.907 others(42): Show c.907+2522_907+2546delATTTTATTATATGGCACAAGAGATC		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOX_chr20_4143828_4192727	4168883	CTATTTTA others(18): Show CTATTTTATTTTATTTTATTTTATTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02965.hp1 HG02965.hp2 others(19): Show HG02280.hp1 HG02965.hp1 HG02965.hp2 HG03098.hp2 HG03486.hp2 HG03516.hp1 HG03927.hp2 HG06807.hp2 NA18943.hp1 NA18944.hp1 NA18954.hp1 NA18974.hp2 NA18991.hp1 NA18999.hp1 NA19003.hp1 NA19009.hp2 NA19043.hp2 NA19058.hp2 NA19067.hp1 NA19070.hp1 NA19080.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0011	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0001c0008t0001 a0001c0011t0001	a0001c0001t0001g0020 a0001c0001t0001g0358 a0001c0001t0001g0384 others(19): Show a0001c0001t0001g0020 a0001c0001t0001g0358 a0001c0001t0001g0384 a0001c0001t0001g0394 a0001c0001t0001g0398 a0001c0002t0001g0214 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0333 a0001c0002t0001g0356 a0001c0002t0001g0375 a0001c0002t0001g0377 a0001c0002t0001g0381 a0001c0002t0001g0382 a0001c0002t0001g0397 a0001c0003t0001g0187 a0001c0006t0001g0355 a0001c0006t0001g0359 a0001c0006t0001g0360 a0001c0006t0001g0363 a0001c0008t0001g0036 a0001c0011t0001g0400	22	428	0.0514	-25	c.-26 others(42): Show c.-26-6103_-26-6079delTTTATTTTATTTTATTTTATTTTAT		SMOX	ENSG00000088826.18	transcript	ENST00000305958.9	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr20	TogoVar
SMTNL2_chr17_4579529_4613319	4589938	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18957.hp2 NA18962.hp2 others(6): Show NA18946.hp1 NA18957.hp2 NA18962.hp2 NA18968.hp1 NA18977.hp2 NA19012.hp1 NA19055.hp1 NA19091.hp1 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 others(1): Show a0001c0002 a0001c0004 a0001c0005 a0001c0008	a0001c0002t0001 a0001c0004t0001 a0001c0004t0002 others(2): Show a0001c0002t0001 a0001c0004t0001 a0001c0004t0002 a0001c0005t0002 a0001c0008t0001	a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 others(6): Show a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0004t0001g0110 a0001c0004t0001g0112 a0001c0004t0002g0113 a0001c0005t0002g0111 a0001c0005t0002g0114 a0001c0008t0001g0128	9	442	0.0204	-25	c.400 others(42): Show c.400-2401_400-2377delTTTTTTTTTTTTTTTTTTTTTTTTT		SMTNL2	ENSG00000188176.12	transcript	ENST00000389313.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr17	TogoVar
SMUG1_chr12_54175366_54193985	54185472	AAAAATAA others(18): Show AAAAATAAAATAAAAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18969.hp2 NA19076.hp1 HG00423.hp1 NA18969.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0057 a0001c0001t0003g0134 a0001c0001t0002g0057 a0001c0001t0003g0134	3	438	0.0069	-25	c.-19 others(42): Show c.-19-1538_-19-1514delATTTATTTATTTTTTATTTTATTTT		SMUG1	ENSG00000123415.16	transcript	ENST00000682136.1	protein_coding	2/3						chr12	TogoVar
SMUG1_chr12_54175366_54193985	54185488	ATAAATAA others(18): Show ATAAATAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00735.hp1 HG01069.hp1 others(29): Show HG00597.hp2 HG00735.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01192.hp2 HG01243.hp2 HG01261.hp1 HG01361.hp1 HG01515.hp2 HG01978.hp2 HG01981.hp2 HG02109.hp2 HG02273.hp2 HG02293.hp1 HG02486.hp2 HG02818.hp1 HG02818.hp2 HG02970.hp2 HG03017.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03688.hp2 HG03927.hp1 NA18972.hp1 NA18974.hp2 NA18981.hp1 NA18981.hp2 NA19002.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0017 a0005c0006t0004	a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0066 others(14): Show a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0151 a0001c0001t0001g0196 a0001c0001t0004g0036 a0001c0001t0004g0063 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0162 a0001c0001t0004g0177 a0001c0001t0004g0202 a0001c0001t0012g0182 a0001c0001t0012g0197 a0001c0001t0017g0181 a0005c0006t0004g0154	32	438	0.0731	-25	c.-19 others(42): Show c.-19-1554_-19-1530delATTTATTTATTTATTTATTTATTTA		SMUG1	ENSG00000123415.16	transcript	ENST00000682136.1	protein_coding	2/3						chr12	TogoVar
SMUG1_chr12_54175366_54193985	54188270	TAATAATA others(18): Show TAATAATAATAATAATAATAATAATA	T T	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02083.hp1 HG02165.hp2 others(7): Show HG01975.hp1 HG02083.hp1 HG02165.hp2 HG02683.hp1 HG03017.hp1 HG03453.hp2 NA18949.hp1 NA18952.hp2 NA18966.hp1 NA20805.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0005c0006t0004	a0001c0001t0001g0035 a0001c0001t0001g0156 a0001c0001t0001g0157 others(5): Show a0001c0001t0001g0035 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0002g0080 a0001c0001t0003g0079 a0001c0001t0004g0155 a0001c0001t0004g0158 a0005c0006t0004g0154	10	438	0.0228	-25	c.-10 others(42): Show c.-103-393_-103-369delTATTATTATTATTATTATTATTATT		SMUG1	ENSG00000123415.16	transcript	ENST00000682136.1	protein_coding	1/3						chr12	TogoVar
SMURF1_chr7_99022440_99149108	99059402	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01243.hp2 HG01346.hp2 others(1): Show HG00140.hp1 HG01243.hp2 HG01346.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0039 a0001c0001t0014 a0001c0001t0039	a0001c0001t0014g0197 a0001c0001t0014g0198 a0001c0001t0014g0199 others(1): Show a0001c0001t0014g0197 a0001c0001t0014g0198 a0001c0001t0014g0199 a0001c0001t0039g0232	4	264	0.0152	-25	c.203 others(42): Show c.203+1172_203+1196delATTTTATTTTATTTTATTTTATTTT		SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	3/17						chr7	TogoVar
SMURF1_chr7_99022440_99149108	99119003	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00738.hp2 HG01934.hp1 others(3): Show HG00544.hp1 HG00738.hp2 HG01934.hp1 HG01943.hp1 NA18961.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0013 a0001c0002t0001 others(1): Show a0001c0001t0004 a0001c0001t0013 a0001c0002t0001 a0001c0002t0008	a0001c0001t0004g0095 a0001c0001t0013g0093 a0001c0002t0001g0024 others(3): Show a0001c0001t0004g0095 a0001c0001t0013g0093 a0001c0002t0001g0024 a0001c0002t0001g0041 a0001c0002t0001g0081 a0001c0002t0008g0054	6	264	0.0227	-25	c.55+ others(42): Show c.55+24698_55+24722delAAAAAAAAAAAAAAAAAAAAAAAAA		SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17						chr7	TogoVar
SMYD1_chr2_88062825_88118384	88065214	TCCCCTCC others(18): Show TCCCCTCCCCCCCTCCCCTCCCCTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03471.hp2 HG03453.hp2 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0006 a0001c0004 a0002c0006	a0001c0004t0001 a0002c0006t0001 a0001c0004t0001 a0002c0006t0001	a0001c0004t0001g0246 a0002c0006t0001g0245 a0001c0004t0001g0246 a0002c0006t0001g0245	2	338	0.0059	-25	c.-26 others(36): Show c.-2650_-2626delCCCCTCCCCCCCTCCCCTCCCCTCC		SMYD1	ENSG00000115593.15	transcript	ENST00000419482.7	protein_coding					2610		chr2	TogoVar
SND1_chr7_127647194_128097593	127837363	GACACGAT others(18): Show GACACGATGTTTTAGAAATTTTGCAT	G G	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19012.hp2 NA19057.hp2 NA18966.hp1 NA19012.hp2 NA19057.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0154 a0001c0001t0001g0156 a0002c0003t0001g0155 a0001c0001t0001g0154 a0001c0001t0001g0156 a0002c0003t0001g0155	3	262	0.0115	-25	c.124 others(44): Show c.1243-6960_1243-6936delACACGATGTTTTAGAAATTTTGCAT		SND1	ENSG00000197157.11	transcript	ENST00000354725.8	protein_coding	11/23						chr7	TogoVar
SNED1_chr2_240993618_241100568	241009793	TGTCCCAT others(18): Show TGTCCCATGTGTGTTTCCCCGGAGGC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02083.hp1 HG02109.hp1 others(39): Show HG01884.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA19005.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0008 a0009 a0010 a0013 a0018 a0021	a0001c0002 a0001c0016 a0001c0037 others(28): Show a0001c0002 a0001c0016 a0001c0037 a0001c0050 a0001c0068 a0002c0009 a0002c0010 a0002c0011 a0002c0013 a0002c0018 a0002c0019 a0002c0022 a0002c0036 a0002c0055 a0002c0058 a0002c0073 a0002c0082 a0002c0084 a0003c0066 a0004c0005 a0008c0032 a0008c0033 a0008c0081 a0009c0030 a0009c0031 a0009c0067 a0010c0017 a0013c0049 a0013c0079 a0018c0078 a0021c0070	a0001c0002t0001 a0001c0016t0003 a0001c0037t0020 others(35): Show a0001c0002t0001 a0001c0016t0003 a0001c0037t0020 a0001c0050t0003 a0001c0068t0018 a0002c0009t0004 a0002c0009t0012 a0002c0009t0016 a0002c0010t0014 a0002c0010t0016 a0002c0011t0011 a0002c0011t0015 a0002c0013t0011 a0002c0013t0015 a0002c0018t0022 a0002c0019t0014 a0002c0019t0026 a0002c0022t0014 a0002c0022t0035 a0002c0036t0025 a0002c0055t0022 a0002c0058t0019 a0002c0073t0063 a0002c0082t0039 a0002c0084t0037 a0003c0066t0015 a0004c0005t0010 a0008c0032t0021 a0008c0033t0016 a0008c0081t0021 a0009c0030t0027 a0009c0031t0028 a0009c0067t0028 a0010c0017t0024 a0013c0049t0019 a0013c0079t0016 a0018c0078t0016 a0021c0070t0019	a0001c0002t0001g0075 a0001c0016t0003g0216 a0001c0037t0020g0030 others(39): Show a0001c0002t0001g0075 a0001c0016t0003g0216 a0001c0037t0020g0030 a0001c0050t0003g0051 a0001c0068t0018g0320 a0002c0009t0004g0040 a0002c0009t0012g0034 a0002c0009t0016g0220 a0002c0010t0014g0222 a0002c0010t0016g0033 a0002c0010t0016g0157 a0002c0011t0011g0029 a0002c0011t0015g0028 a0002c0011t0015g0036 a0002c0011t0015g0043 a0002c0013t0011g0207 a0002c0013t0015g0317 a0002c0018t0022g0223 a0002c0019t0014g0041 a0002c0019t0026g0155 a0002c0022t0014g0327 a0002c0022t0035g0037 a0002c0036t0025g0022 a0002c0055t0022g0052 a0002c0058t0019g0209 a0002c0073t0063g0007 a0002c0082t0039g0032 a0002c0084t0037g0318 a0003c0066t0015g0330 a0004c0005t0010g0266 a0008c0032t0021g0328 a0008c0032t0021g0329 a0008c0033t0016g0221 a0008c0081t0021g0031 a0009c0030t0027g0208 a0009c0031t0028g0224 a0009c0067t0028g0039 a0010c0017t0024g0042 a0013c0049t0019g0050 a0013c0079t0016g0331 a0018c0078t0016g0035 a0021c0070t0019g0008	42	344	0.1221	-25	c.213 others(44): Show c.213+10769_213+10793delGTCCCATGTGTGTTTCCCCGGAGGC		SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	1/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNRNP25_chr16_48828_62669	52446	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 NA18981.hp1 HG01169.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0016 a0001c0001t0001g0001 a0001c0001t0003g0016	2	424	0.0047	-25	c.-15 others(36): Show c.-1570_-1546delAAAAAAAAAAAAAAAAAAAAAAAAA		SNRNP25	ENSG00000161981.11	transcript	ENST00000293861.8	protein_coding					1381		chr16	TogoVar
SNTB2_chr16_69182164_69314052	69292412	TATATATT others(18): Show TATATATTATATATATATATATATTA	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01361.hp2 HG02257.hp1 others(10): Show HG01346.hp2 HG01361.hp2 HG02257.hp1 HG02280.hp2 HG03453.hp1 HG03579.hp2 HG04199.hp2 HG06807.hp2 NA18957.hp2 NA18960.hp1 NA18963.hp2 NA19007.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0005 a0001c0001t0005 a0001c0003t0005	a0001c0001t0005g0112 a0001c0001t0005g0146 a0001c0001t0005g0147 others(10): Show a0001c0001t0005g0112 a0001c0001t0005g0146 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0149 a0001c0001t0005g0171 a0001c0001t0005g0208 a0001c0001t0005g0210 a0001c0001t0005g0211 a0001c0001t0005g0212 a0001c0003t0005g0209 a0001c0003t0005g0214 a0001c0003t0005g0215	13	218	0.0596	-25	c.134 others(44): Show c.1346-7177_1346-7153delATATATTATATATATATATATATTA		SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding	5/6						chr16	TogoVar
SNTG1_chr8_49906407_50801692	50069583	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03041.hp2 HG02109.hp1 HG03041.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0027 a0002c0003t0018 a0001c0001t0027 a0002c0003t0018	a0001c0001t0027g0070 a0002c0003t0018g0045 a0001c0001t0027g0070 a0002c0003t0018g0045	2	106	0.0189	-25	c.-10 others(48): Show c.-102-102963_-102-102939delTTTTTTTTTTTTTTTTTTTTTT TTT		SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	50259511	AGAAAGAA others(18): Show AGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03209.hp1 HG03098.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0049 a0001c0001t0004 a0001c0001t0049	a0001c0001t0004g0074 a0001c0001t0049g0106 a0001c0001t0004g0074 a0001c0001t0049g0106	2	106	0.0189	-25	c.-28 others(44): Show c.-28+86877_-28+86901delGAAAGAAAGAAAGAAAGAAAGAAAG		SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	2/18						chr8	TogoVar
SNX16_chr8_81794583_81847185	81841791	GAGGAAAG others(18): Show GAGGAAAGAGGCAAATACCAGGCACA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	306	0.0033	-25	c.-97 others(40): Show c.-97+306_-97+330delTGTGCCTGGTATTTGCCTCTTTCCT		SNX16	ENSG00000104497.15	transcript	ENST00000345957.9	protein_coding	1/7						chr8	TogoVar
SNX18_chr5_54512759_54551586	54512808	TCCTTCCT others(18): Show TCCTTCCTTCTTTCCTTCCTTCCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00741.hp1 HG01192.hp2 others(20): Show HG00673.hp2 HG00741.hp1 HG01192.hp2 HG01243.hp2 HG01346.hp1 HG01361.hp2 HG01884.hp1 HG01978.hp1 HG02004.hp2 HG02129.hp2 HG02145.hp1 HG02486.hp2 HG02622.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03225.hp1 NA18947.hp2 NA19010.hp2 NA19056.hp1 NA19068.hp1 NA19072.hp1 NA19091.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0001c0006 a0005c0013 a0001c0002 a0001c0006 a0005c0013	a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 others(4): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0016 a0001c0002t0022 a0001c0006t0001 a0005c0013t0001	a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0029 others(16): Show a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0148 a0001c0002t0001g0162 a0001c0002t0002g0149 a0001c0002t0008g0011 a0001c0002t0008g0144 a0001c0002t0016g0002 a0001c0002t0016g0004 a0001c0002t0016g0137 a0001c0002t0022g0187 a0001c0006t0001g0011 a0001c0006t0001g0030 a0001c0006t0001g0048 a0001c0006t0001g0166 a0001c0006t0001g0167 a0005c0013t0001g0004	23	390	0.0590	-25	c.-51 others(36): Show c.-5144_-5120delCCTTCCTTCTTTCCTTCCTTCCTTC		SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding					4950		chr5	TogoVar
SNX27_chr1_151607050_151704080	151676270	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02698.hp2 NA20752.hp2 HG02572.hp1 HG02698.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0130 a0001c0001t0144 a0001c0001t0154 a0001c0001t0130 a0001c0001t0144 a0001c0001t0154	a0001c0001t0130g0267 a0001c0001t0144g0011 a0001c0001t0154g0090 a0001c0001t0130g0267 a0001c0001t0144g0011 a0001c0001t0154g0090	3	366	0.0082	-25	c.115 others(44): Show c.1150-7057_1150-7033delTTTTTTTTTTTTTTTTTTTTTTTTT		SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
SNX29_chr16_11971734_12579287	12476378	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA20129.hp1 HG01884.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0013 a0001c0022t0049 a0001c0001t0013 a0001c0022t0049	a0001c0001t0013g0016 a0001c0022t0049g0061 a0001c0001t0013g0016 a0001c0022t0049g0061	2	176	0.0114	-25	c.203 others(44): Show c.2038-1339_2038-1315delAAAAATATATATATATATATATATA		SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	18/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12512393	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01175.hp1 HG01496.hp1 others(8): Show HG00733.hp2 HG01175.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp2 HG02109.hp2 HG02486.hp1 HG02630.hp1 HG02886.hp2 HG02895.hp2 HG02976.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0020 a0002c0005 a0003c0008 a0006c0017	a0001c0001t0012 a0001c0001t0017 a0001c0001t0063 others(8): Show a0001c0001t0012 a0001c0001t0017 a0001c0001t0063 a0001c0002t0077 a0001c0003t0001 a0001c0003t0062 a0001c0006t0010 a0001c0020t0010 a0002c0005t0039 a0003c0008t0010 a0006c0017t0002	a0001c0001t0012g0056 a0001c0001t0017g0025 a0001c0001t0063g0039 others(8): Show a0001c0001t0012g0056 a0001c0001t0017g0025 a0001c0001t0063g0039 a0001c0002t0077g0120 a0001c0003t0001g0158 a0001c0003t0062g0075 a0001c0006t0010g0041 a0001c0020t0010g0167 a0002c0005t0039g0013 a0003c0008t0010g0145 a0006c0017t0002g0024	11	176	0.0625	-25	c.217 others(46): Show c.2179-12308_2179-12284delATATATATATATATATATATATAT A		SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	19/20						chr16	TogoVar
SNX29_chr16_11971734_12579287	12575844	TTTTGTTT others(18): Show TTTTGTTTTTTTTGTTTTTGTTTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01074.hp1 HG01167.hp1 others(6): Show HG00741.hp2 HG01074.hp1 HG01167.hp1 HG01175.hp1 HG01358.hp1 HG01891.hp2 HG02257.hp2 NA18950.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0013 a0001c0024 a0002c0005 a0004c0011	a0001c0001t0009 a0001c0003t0002 a0001c0003t0062 others(5): Show a0001c0001t0009 a0001c0003t0002 a0001c0003t0062 a0001c0004t0072 a0001c0013t0094 a0001c0024t0038 a0002c0005t0039 a0004c0011t0009	a0001c0001t0009g0090 a0001c0001t0009g0111 a0001c0003t0002g0077 others(6): Show a0001c0001t0009g0090 a0001c0001t0009g0111 a0001c0003t0002g0077 a0001c0003t0062g0075 a0001c0004t0072g0114 a0001c0013t0094g0126 a0001c0024t0038g0148 a0002c0005t0039g0013 a0004c0011t0009g0116	9	176	0.0511	-25	c.72 others(36): Show c.7216_*7240delTTTGTTTTTTTTGTTTTTGTTTTTA		SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding					1558		chr16	TogoVar
SNX32_chr11_65828963_65858701	65834173	GGTGGTGT others(18): Show GGTGGTGTGTGTGTGTCTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(102): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01255.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01978.hp1 HG02015.hp1 HG02056.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02300.hp2 HG02572.hp1 HG02602.hp1 HG02683.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG03041.hp1 HG03239.hp1 HG03239.hp2 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18939.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18966.hp1 NA18968.hp1 NA18971.hp2 NA18973.hp1 NA18989.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19030.hp2 NA19056.hp2 NA19062.hp2 NA19064.hp2 NA19074.hp2 NA19079.hp2 NA19084.hp1 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20752.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0005 a0001c0001 a0001c0006 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0002c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(73): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0002g0048 a0001c0006t0001g0027 a0001c0006t0001g0075 a0002c0005t0001g0106 a0002c0005t0001g0107	105	390	0.2692	-25	c.36+ others(37): Show c.36+78_36+102delGTGTGTGTGTCTGTGTGTGTGTGGT		SNX32	ENSG00000172803.18	transcript	ENST00000308342.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
SNX6_chr14_34556093_34635148	34560278	TTTTTATT others(18): Show TTTTTATTTTATTTTATTTTATTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	322	0.0031	-25	c.28 others(36): Show c.2819_*2843delTAAAATAAAATAAAATAAAATAAAA		SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding					814		chr14	TogoVar
SNX8_chr7_2246770_2319441	2252711	GCTCTCCT others(18): Show GCTCTCCTCACCCCTGCCCTCTTGCT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02602.hp2 others(6): Show HG01109.hp2 HG01884.hp1 HG02602.hp2 HG02735.hp2 HG02895.hp1 HG02897.hp1 HG04204.hp1 NA18522.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0017 a0001c0001t0031 a0002c0004t0018 a0001c0001t0017 a0001c0001t0031 a0002c0004t0018	a0001c0001t0017g0196 a0001c0001t0017g0205 a0001c0001t0017g0209 others(6): Show a0001c0001t0017g0196 a0001c0001t0017g0205 a0001c0001t0017g0209 a0001c0001t0017g0211 a0001c0001t0031g0326 a0002c0004t0018g0360 a0002c0004t0018g0362 a0002c0004t0018g0363 a0002c0004t0018g0364	9	370	0.0243	-25	c.23 others(36): Show c.2320_*2344delAGCAAGAGGGCAGGGGTGAGGAGAG		SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	11/11				2320		chr7	TogoVar
SNX8_chr7_2246770_2319441	2278792	CACTCACA others(18): Show CACTCACACTACGGAGTCGACGCCGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp1 others(131): Show HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG03017.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03579.hp1 HG03654.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18984.hp1 NA18985.hp2 NA18988.hp1 NA18990.hp2 NA18995.hp2 NA18997.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19070.hp1 NA19077.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0008 a0009 a0010	a0001c0001 a0001c0005 a0001c0006 others(7): Show a0001c0001 a0001c0005 a0001c0006 a0001c0010 a0001c0015 a0002c0004 a0006c0008 a0008c0011 a0009c0018 a0010c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(24): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0017 a0001c0001t0020 a0001c0001t0025 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0045 a0001c0001t0049 a0001c0005t0001 a0001c0005t0015 a0001c0006t0013 a0001c0010t0001 a0001c0015t0007 a0002c0004t0008 a0002c0004t0018 a0006c0008t0001 a0008c0011t0001 a0009c0018t0001 a0010c0014t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 others(131): Show a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0073 a0001c0001t0001g0084 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0297 a0001c0001t0001g0301 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0350 a0001c0001t0003g0186 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0007g0019 a0001c0001t0007g0024 a0001c0001t0007g0025 a0001c0001t0007g0033 a0001c0001t0007g0036 a0001c0001t0007g0106 a0001c0001t0007g0179 a0001c0001t0007g0181 a0001c0001t0007g0187 a0001c0001t0007g0273 a0001c0001t0007g0329 a0001c0001t0008g0270 a0001c0001t0014g0047 a0001c0001t0014g0278 a0001c0001t0014g0295 a0001c0001t0014g0298 a0001c0001t0014g0300 a0001c0001t0017g0196 a0001c0001t0017g0205 a0001c0001t0017g0209 a0001c0001t0017g0211 a0001c0001t0020g0156 a0001c0001t0020g0157 a0001c0001t0020g0207 a0001c0001t0025g0093 a0001c0001t0025g0107 a0001c0001t0031g0326 a0001c0001t0032g0305 a0001c0001t0033g0126 a0001c0001t0034g0299 a0001c0001t0036g0023 a0001c0001t0045g0252 a0001c0001t0049g0325 a0001c0005t0001g0057 a0001c0005t0001g0154 a0001c0005t0001g0219 a0001c0005t0001g0220 a0001c0005t0001g0254 a0001c0005t0015g0020 a0001c0005t0015g0029 a0001c0005t0015g0030 a0001c0005t0015g0032 a0001c0006t0013g0233 a0001c0006t0013g0234 a0001c0010t0001g0003 a0001c0015t0007g0022 a0002c0004t0008g0361 a0002c0004t0018g0360 a0002c0004t0018g0362 a0002c0004t0018g0363 a0002c0004t0018g0364 a0006c0008t0001g0215 a0006c0008t0001g0249 a0008c0011t0001g0004 a0009c0018t0001g0355 a0010c0014t0001g0213	134	370	0.3622	-25	c.95- others(38): Show c.95-512_95-488delCCGGCGTCGACTCCGTAGTGTGAGT		SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	1/10						chr7	TogoVar
SNX8_chr7_2246770_2319441	2278962	CACTCACA others(18): Show CACTCACACTACGGAGTCGACGCCGG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	370	0.0027	-25	c.95- others(38): Show c.95-682_95-658delCCGGCGTCGACTCCGTAGTGTGAGT		SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	1/10						chr7	TogoVar
SNX8_chr7_2246770_2319441	2302106	GACGGTCT others(18): Show GACGGTCTCCCTCTCCCTCTCTTTCC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02258.hp1 HG02280.hp2 others(2): Show HG01109.hp1 HG02258.hp1 HG02280.hp2 HG02622.hp1 HG02723.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0004 a0004c0013 a0001c0001 a0002c0004 a0004c0013	a0001c0001t0005 a0001c0001t0008 a0002c0004t0008 others(1): Show a0001c0001t0005 a0001c0001t0008 a0002c0004t0008 a0004c0013t0003	a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0008g0270 others(2): Show a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0008g0270 a0002c0004t0008g0361 a0004c0013t0003g0005	5	370	0.0135	-25	c.94+ others(42): Show c.94+12197_94+12221delGGAAAGAGAGGGAGAGGGAGACCGT		SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	1/10						chr7	TogoVar
SNX8_chr7_2246770_2319441	2317251	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01099.hp1 HG02040.hp1 others(26): Show HG00639.hp1 HG01099.hp1 HG02040.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02523.hp2 HG02809.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03225.hp1 HG03579.hp2 NA18906.hp2 NA18981.hp2 NA19005.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19057.hp2 NA19081.hp1 NA19082.hp1 NA20129.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0021 a0001c0001t0022 a0001c0002t0010 a0001c0002t0027 a0001c0002t0047 a0001c0003t0005 a0001c0003t0006 a0003c0007t0012	a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 others(26): Show a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0345 a0001c0001t0002g0343 a0001c0001t0005g0163 a0001c0001t0005g0164 a0001c0001t0005g0169 a0001c0001t0005g0352 a0001c0001t0005g0353 a0001c0001t0008g0162 a0001c0001t0008g0170 a0001c0001t0021g0351 a0001c0001t0021g0354 a0001c0001t0022g0165 a0001c0001t0022g0166 a0001c0002t0010g0321 a0001c0002t0010g0335 a0001c0002t0010g0336 a0001c0002t0010g0337 a0001c0002t0010g0338 a0001c0002t0010g0339 a0001c0002t0010g0344 a0001c0002t0010g0349 a0001c0002t0027g0348 a0001c0002t0047g0161 a0001c0003t0005g0008 a0001c0003t0006g0010 a0003c0007t0012g0009	29	370	0.0784	-25	c.-28 others(36): Show c.-2855_-2831delAAAAAAAAAAAAAAAAAAAAAAAAA		SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding					2811		chr7	TogoVar
SOGA1_chr20_36772447_36868538	36773873	ACATGCGT others(18): Show ACATGCGTACACCGCCGCCCGACGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01074.hp2 HG01517.hp2 others(6): Show HG00140.hp2 HG01074.hp2 HG01517.hp2 HG02922.hp1 HG03669.hp1 HG03710.hp2 HG04115.hp2 NA20905.hp1 NA20905.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0010 a0001c0001 a0001c0002 a0006c0010	a0001c0001t0005 a0001c0001t0024 a0001c0002t0003 others(2): Show a0001c0001t0005 a0001c0001t0024 a0001c0002t0003 a0006c0010t0005 a0006c0010t0031	a0001c0001t0005g0197 a0001c0001t0005g0232 a0001c0001t0005g0237 others(6): Show a0001c0001t0005g0197 a0001c0001t0005g0232 a0001c0001t0005g0237 a0001c0001t0005g0238 a0001c0001t0024g0003 a0001c0002t0003g0066 a0006c0010t0005g0233 a0006c0010t0005g0234 a0006c0010t0031g0235	9	282	0.0319	-25	c.12 others(38): Show c.12587_*12611delCGCGTCGGGCGGCGGTGTACGCATG		SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding					3573		chr20	TogoVar
SOGA1_chr20_36772447_36868538	36789834	TATTTTTG others(18): Show TATTTTTGAGACAGAGTCTCACTCTG	T T	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	282	0.0036	-25	c.483 others(44): Show c.4834-3222_4834-3198delCAGAGTGAGACTCTGTCTCAAAAAT		SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	14/14						chr20	TogoVar
SON_chr21_33538038_33582481	33577677	ACACACAC others(18): Show ACACACACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0140 a0001c0002t0001g0140	1	364	0.0028	-25	c.12 others(36): Show c.1254_*1278delCACACACACACACACACACACACAC		SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding					197		chr21	TogoVar
SORBS1_chr10_95306773_95566371	95340829	TGGGATTA others(18): Show TGGGATTACAGGCCTTAATGCAATTC	T T	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0199 a0001c0001t0006g0199	1	300	0.0033	-25	c.267 others(42): Show c.2670+431_2670+455delGAATTGCATTAAGGCCTGTAATCCC		SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	28/32						chr10	TogoVar
SORCS2_chr4_7187538_7747827	7289632	GGCAAAGG others(18): Show GGCAAAGGTAAAATATCACAATTCAT	G G	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0065 a0001c0002t0065	a0001c0002t0065g0004 a0001c0002t0065g0004	1	168	0.0060	-25	c.480 others(44): Show c.480+96508_480+96532delCAAAGGTAAAATATCACAATTCATG		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7587011	CAGCTAAA others(18): Show CAGCTAAAAATTAAGAATGACCTCTT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03225.hp1 HG03453.hp1 HG02970.hp2 HG03225.hp1 HG03453.hp1	a0001 a0001	a0001c0005 a0001c0038 a0001c0005 a0001c0038	a0001c0005t0004 a0001c0005t0019 a0001c0038t0038 a0001c0005t0004 a0001c0005t0019 a0001c0038t0038	a0001c0005t0004g0101 a0001c0005t0019g0104 a0001c0038t0038g0128 a0001c0005t0004g0101 a0001c0005t0019g0104 a0001c0038t0038g0128	3	168	0.0179	-25	c.649 others(44): Show c.649-51311_649-51287delAAAATTAAGAATGACCTCTTAGCTA		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	3/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7650724	CGCCCAGC others(18): Show CGCCCAGCCCAGCCCAGCCCAGCCCA	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0101 a0001c0005t0004g0101	1	168	0.0060	-25	c.814 others(42): Show c.814-3381_814-3357delCAGCCCAGCCCAGCCCAGCCCAGCC		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	4/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104684779	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp2 HG01123.hp1 others(16): Show HG00140.hp2 HG01070.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01257.hp1 HG01891.hp1 HG01981.hp1 HG02895.hp2 HG02922.hp1 HG03927.hp1 NA18941.hp2 NA18988.hp1 NA19002.hp2 NA19003.hp2 NA19030.hp2 NA19079.hp1 NA19090.hp2 NA20905.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0010c0021 a0001c0001 a0001c0002 a0010c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0010c0021t0001	a0001c0001t0001g0049 a0001c0001t0001g0098 a0001c0001t0002g0084 others(16): Show a0001c0001t0001g0049 a0001c0001t0001g0098 a0001c0001t0002g0084 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0104 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0116 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0002t0001g0035 a0001c0002t0001g0043 a0001c0002t0001g0102 a0001c0002t0001g0105 a0001c0002t0002g0108 a0001c0002t0003g0004 a0001c0002t0003g0060 a0010c0021t0001g0117	19	134	0.1418	-25	c.627 others(44): Show c.627+42855_627+42879delTTTTTTTTTTTTTTTTTTTTTTTTT		SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105242807	TTATATAT others(18): Show TTATATATATTTTTATATATAAATTA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00741.hp2 HG01070.hp1 others(34): Show HG00609.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01358.hp2 HG01515.hp2 HG01517.hp2 HG01981.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp2 HG03688.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp2 NA18941.hp1 NA18970.hp2 NA18988.hp1 NA19002.hp2 NA19010.hp2 NA19012.hp2 NA19079.hp1 NA19090.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0015 a0001c0018 a0003c0009 a0007c0019	a0001c0001t0002 a0001c0001t0010 a0001c0002t0002 others(6): Show a0001c0001t0002 a0001c0001t0010 a0001c0002t0002 a0001c0003t0002 a0001c0006t0004 a0001c0015t0002 a0001c0018t0002 a0003c0009t0002 a0007c0019t0002	a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0016 others(34): Show a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0025 a0001c0001t0002g0056 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0133 a0001c0001t0010g0127 a0001c0002t0002g0053 a0001c0002t0002g0129 a0001c0003t0002g0010 a0001c0006t0004g0058 a0001c0015t0002g0130 a0001c0018t0002g0064 a0003c0009t0002g0096 a0003c0009t0002g0097 a0007c0019t0002g0109	37	134	0.2761	-25	c.286 others(44): Show c.2869-2678_2869-2654delTATTTTTATATATAAATTATATATA		SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	20/26					INFO_REALIGN_3_PRIME	chr10	TogoVar
SORD_chr15_45018195_45082185	45080307	TGCATTTG others(18): Show TGCATTTGGAAGAGGCACTGGAAGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01891.hp1 HG02145.hp1 others(16): Show HG00642.hp2 HG01891.hp1 HG02145.hp1 HG02280.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02818.hp1 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03453.hp2 HG03471.hp1 HG03540.hp1 HG03540.hp2 HG06807.hp1 NA19240.hp1 NA20129.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0006 a0002c0002 a0004c0006	a0002c0002t0003 a0002c0002t0040 a0004c0006t0039 a0002c0002t0003 a0002c0002t0040 a0004c0006t0039	a0002c0002t0003g0001 a0002c0002t0003g0027 a0002c0002t0003g0091 others(14): Show a0002c0002t0003g0001 a0002c0002t0003g0027 a0002c0002t0003g0091 a0002c0002t0003g0111 a0002c0002t0003g0112 a0002c0002t0003g0113 a0002c0002t0003g0114 a0002c0002t0003g0115 a0002c0002t0003g0237 a0002c0002t0003g0252 a0002c0002t0003g0262 a0002c0002t0003g0279 a0002c0002t0003g0280 a0002c0002t0003g0281 a0002c0002t0003g0292 a0002c0002t0040g0261 a0004c0006t0039g0118	19	308	0.0617	-25	c.67 others(36): Show c.6778_*6802delGCATTTGGAAGAGGCACTGGAAGAG		SORD	ENSG00000140263.15	transcript	ENST00000267814.14	protein_coding					3123		chr15	TogoVar
SORT1_chr1_109304575_109402918	109378737	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	240	0.0042	-25	c.307 others(42): Show c.307-9173_307-9149delTATATATATATATATATATATATAT		SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	1/19						chr1	TogoVar
SOWAHB_chr4_76889152_76903144	76897116	GCGCCTTC others(18): Show GCGCCTTCTTCCCGCTCCCTGGAAGC	G G	frameshift_variant frameshift_variant	HIGH	NA19077.hp1 NA19077.hp1	a0014 a0014	a0014c0012 a0014c0012	a0014c0012t0027 a0014c0012t0027	a0014c0012t0027g0000 a0014c0012t0027g0000	1	438	0.0023	-25	c.709 others(32): Show c.709_733delGCTTCCAGGGAGCGGGAAGAAGGCG	p.Ala others(5): Show p.Ala237fs	SOWAHB	ENSG00000186212.4	transcript	ENST00000334306.4	protein_coding	1/1	1028/3993	709/2382	237/793			chr4	TogoVar
SOWAHB_chr4_76889152_76903144	76900842	AAAAAAAA others(18): Show AAAAAAAAAACAAAAAAAAAAAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01243.hp1 HG01257.hp2 others(7): Show HG00735.hp2 HG01243.hp1 HG01257.hp2 HG02451.hp1 HG02559.hp1 HG02615.hp2 HG02886.hp1 HG03486.hp2 NA18948.hp2 NA20752.hp2	a0003 a0007 a0003 a0007	a0003c0003 a0007c0008 a0003c0003 a0007c0008	a0003c0003t0004 a0003c0003t0008 a0007c0008t0005 a0003c0003t0004 a0003c0003t0008 a0007c0008t0005	a0003c0003t0004g0000 a0003c0003t0008g0000 a0007c0008t0005g0000 a0003c0003t0004g0000 a0003c0003t0008g0000 a0007c0008t0005g0000	10	438	0.0228	-25	c.-30 others(36): Show c.-3018_-2994delGTTTTTTTTTTTTTTGTTTTTTTTT		SOWAHB	ENSG00000186212.4	transcript	ENST00000334306.4	protein_coding					2699		chr4	TogoVar
SOX2_chr3_181706925_181719436	181715433	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG00597.hp1 others(75): Show HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00639.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01074.hp2 HG01243.hp2 HG01255.hp1 HG01358.hp1 HG01891.hp2 HG01952.hp1 HG02027.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02602.hp1 HG02647.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03195.hp2 HG03486.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG04184.hp1 HG06807.hp1 NA18906.hp2 NA18943.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18956.hp1 NA18959.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18997.hp1 NA18997.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19009.hp2 NA19030.hp2 NA19054.hp2 NA19063.hp1 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19087.hp2 NA19088.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(6): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0006g0000 a0001c0001t0011g0000 a0001c0001t0012g0000 a0001c0001t0013g0000 a0001c0001t0014g0000 a0001c0001t0015g0000	78	412	0.1893	-25	c.21 others(36): Show c.2120_*2144delTTTTTTTTTTTTTTTTTTTTTTTTT		SOX2	ENSG00000181449.4	transcript	ENST00000325404.3	protein_coding					998		chr3	TogoVar
SOX5_chr12_23524504_23954670	23570923	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0114	a0001c0001t0114g0119 a0001c0001t0114g0119	1	212	0.0047	-25	c.134 others(44): Show c.1342+4713_1342+4737delATATATATATATATATATTTTTTTT		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14						chr12	TogoVar
SOX5_chr12_23524504_23954670	23570925	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18522.hp2 HG02970.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0053 a0001c0001t0006 a0001c0002t0053	a0001c0001t0006g0068 a0001c0002t0053g0095 a0001c0001t0006g0068 a0001c0002t0053g0095	2	212	0.0094	-25	c.134 others(44): Show c.1342+4711_1342+4735delATATATATATATATATATATTTTTT		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14						chr12	TogoVar
SOX5_chr12_23524504_23954670	23570927	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01071.hp2 others(2): Show HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01517.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0055 others(1): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0055 a0001c0001t0056	a0001c0001t0002g0105 a0001c0001t0012g0110 a0001c0001t0012g0111 others(2): Show a0001c0001t0002g0105 a0001c0001t0012g0110 a0001c0001t0012g0111 a0001c0001t0055g0135 a0001c0001t0056g0142	5	212	0.0236	-25	c.134 others(44): Show c.1342+4709_1342+4733delATATATATATATATATATATATTTT		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14						chr12	TogoVar
SOX5_chr12_23524504_23954670	23770902	TTTTATAA others(18): Show TTTTATAAAGCTAAATACATAACAGG	T T	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG04184.hp1 HG03942.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0026 a0001c0001t0002 a0001c0001t0026	a0001c0001t0002g0006 a0001c0001t0026g0127 a0001c0001t0002g0006 a0001c0001t0026g0127	2	212	0.0094	-25	c.482 others(44): Show c.482-15203_482-15179delCCTGTTATGTATTTAGCTTTATAAA		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14						chr12	TogoVar
SOX6_chr11_15961449_16361546	16132398	GAAAAAAG others(18): Show GAAAAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA18998.hp1 NA19090.hp2 HG04115.hp1 NA18998.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0024 a0001c0001t0002 a0001c0001t0004 a0001c0001t0024	a0001c0001t0002g0083 a0001c0001t0004g0084 a0001c0001t0024g0104 a0001c0001t0002g0083 a0001c0001t0004g0084 a0001c0001t0024g0104	3	218	0.0138	-25	c.778 others(44): Show c.778-20500_778-20476delTTCTTTCTTTCTTTCTTTCTTTTTT		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15						chr11	TogoVar
SP100_chr2_230411201_230550606	230497488	GGAGGAGA others(18): Show GGAGGAGAGGAGAGGAGAGGAGAGGA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03139.hp2 HG02572.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0020 a0001c0001t0008 a0001c0001t0020	a0001c0001t0008g0053 a0001c0001t0020g0125 a0001c0001t0008g0053 a0001c0001t0020g0125	2	290	0.0069	-25	c.164 others(42): Show c.1646-937_1646-913delGAGGAGAGGAGAGGAGAGGAGAGGA		SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28					INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497534	GAGGAGAG others(18): Show GAGGAGAGGAGAGGAAAGGAAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01981.hp1 HG02257.hp1 others(8): Show HG01346.hp1 HG01981.hp1 HG02257.hp1 HG02735.hp2 HG02970.hp2 HG03017.hp2 NA18612.hp1 NA18957.hp2 NA18969.hp2 NA18975.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0018 a0002c0005t0005	a0001c0001t0002g0071 a0001c0001t0002g0200 a0001c0001t0005g0211 others(8): Show a0001c0001t0002g0071 a0001c0001t0002g0200 a0001c0001t0005g0211 a0001c0001t0005g0234 a0001c0001t0010g0118 a0001c0001t0010g0185 a0001c0001t0010g0244 a0001c0001t0010g0261 a0001c0001t0018g0176 a0001c0001t0018g0177 a0002c0005t0005g0198	11	290	0.0379	-25	c.164 others(42): Show c.1646-922_1646-898delGAGGAGAGGAAAGGAAAGGAAAGGA		SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28					INFO_REALIGN_3_PRIME	chr2	TogoVar

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