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
SCOC_chr4_140368646_140390728	140375536	TGATATTG others(2): Show TGATATTGTG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp1 others(61): Show HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00558.hp2 HG01074.hp2 HG01192.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02074.hp2 HG02132.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02293.hp1 HG02523.hp1 HG02735.hp2 HG02895.hp2 HG02897.hp1 HG03130.hp2 HG03710.hp2 NA18939.hp2 NA18948.hp1 NA18961.hp2 NA18971.hp2 NA18972.hp1 NA18975.hp2 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp1 NA19011.hp1 NA19054.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19070.hp2 NA19075.hp2 NA19077.hp1 NA19078.hp1 NA19083.hp1 NA19084.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0015 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0015 a0001c0001t0021 a0001c0001t0022	a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0010 others(10): Show a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0010 a0001c0001t0003g0041 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0072 a0001c0001t0005g0003 a0001c0001t0005g0025 a0001c0001t0005g0074 a0001c0001t0015g0003 a0001c0001t0021g0003 a0001c0001t0022g0003	64	416	0.1538	-9	c.-51 others(26): Show c.-51+1828_-51+1836delGGATATTGT		SCOC	ENSG00000153130.18	transcript	ENST00000608372.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr4	TogoVar
SCTR_chr2_119434843_119529483	119471324	ATGATAGA others(2): Show ATGATAGAAC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02965.hp2 HG06807.hp2 others(4): Show HG02055.hp2 HG02965.hp2 HG06807.hp2 NA18906.hp2 NA19043.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0118 a0001c0001t0001g0182 a0001c0001t0001g0267 others(4): Show a0001c0001t0001g0118 a0001c0001t0001g0182 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0004g0035	7	288	0.0243	-9	c.405 others(26): Show c.405+2120_405+2128delGTTCTATCA		SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	4/12						chr2	TogoVar
SCUBE2_chr11_9014476_9096599	9072200	GGTTTGTT others(2): Show GGTTTGTTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG00738.hp1 others(4): Show HG00099.hp1 HG00642.hp2 HG00738.hp1 HG03490.hp2 HG03688.hp1 HG03710.hp2 HG04115.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0003 a0003c0011 a0001c0002 a0003c0003 a0003c0011	a0001c0002t0002 a0003c0003t0002 a0003c0011t0001 a0001c0002t0002 a0003c0003t0002 a0003c0011t0001	a0001c0002t0002g0057 a0003c0003t0002g0128 a0003c0003t0002g0133 others(4): Show a0001c0002t0002g0057 a0003c0003t0002g0128 a0003c0003t0002g0133 a0003c0003t0002g0134 a0003c0011t0001g0129 a0003c0011t0001g0130 a0003c0011t0001g0135	7	356	0.0197	-9	c.517 others(26): Show c.517+2272_517+2280delAAAACAAAC		SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	4/22						chr11	TogoVar
SCYGR1_chr2_227382683_227392949	227387905	GCAGCCAC others(2): Show GCAGCCACCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00438.hp1 HG00597.hp2 HG00609.hp2 others(39): Show HG00438.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG01258.hp2 HG01981.hp2 HG02027.hp2 HG02129.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02818.hp1 HG02895.hp1 HG02970.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03831.hp2 HG06807.hp2 NA18906.hp1 NA18948.hp1 NA18953.hp2 NA18962.hp2 NA18974.hp2 NA20129.hp2 NA21309.hp1	a0003 a0003	a0003c0004 a0003c0007 a0003c0009 a0003c0004 a0003c0007 a0003c0009	a0003c0004t0001 a0003c0007t0001 a0003c0009t0001 a0003c0004t0001 a0003c0007t0001 a0003c0009t0001	a0003c0004t0001g0000 a0003c0007t0001g0000 a0003c0009t0001g0000 a0003c0004t0001g0000 a0003c0007t0001g0000 a0003c0009t0001g0000	42	452	0.0929	-9	c.36_ others(14): Show c.36_44delTGGTGGCTG	p.Gly others(11): Show p.Gly13_Cys15del	SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding	1/1	44/267	36/267	12/88			chr2	TogoVar
SCYGR2_chr2_227593893_227604255	227598929	GGTGGCCG others(2): Show GGTGGCCGCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02622.hp2 HG02717.hp2 NA18522.hp1 others(1): Show HG02622.hp2 HG02717.hp2 NA18522.hp1 NA19240.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0000 a0002c0004t0001g0000	4	468	0.0085	-9	c.42_ others(14): Show c.42_50delCCGCTGTGG	p.Arg others(11): Show p.Arg15_Gly17del	SCYGR2	ENSG00000284643.1	transcript	ENST00000641394.1	protein_coding	1/1	42/363	42/363	14/120		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCYL3_chr1_169844631_169898896	169851293	TTTACATA others(2): Show TTTACATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18965.hp1 NA18974.hp1 NA18975.hp2 NA18965.hp1 NA18974.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0015 a0001c0001t0019g0015	3	416	0.0072	-9	c.24 others(20): Show c.2411_*2419delTATATGTAA		SCYL3	ENSG00000000457.14	transcript	ENST00000367771.11	protein_coding	13/13				2411		chr1	TogoVar
SDC2_chr8_96488813_96616790	96508296	AAATAATA others(2): Show AAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01192.hp1 HG02056.hp2 others(19): Show HG01081.hp2 HG01192.hp1 HG02056.hp2 HG02109.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03225.hp1 HG03225.hp2 HG03516.hp2 HG03579.hp1 NA18943.hp2 NA18964.hp2 NA18981.hp1 NA19030.hp2 NA19043.hp2 NA19088.hp2 NA19240.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0005 others(1): Show a0001c0001 a0002c0002 a0002c0005 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0005t0003 a0002c0005t0005 a0003c0004t0003	a0001c0001t0001g0028 a0001c0001t0001g0138 a0001c0001t0001g0139 others(18): Show a0001c0001t0001g0028 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0276 a0001c0001t0002g0129 a0001c0001t0002g0310 a0001c0001t0003g0184 a0001c0001t0003g0232 a0001c0001t0007g0132 a0002c0002t0001g0002 a0002c0002t0001g0137 a0002c0002t0001g0159 a0002c0002t0001g0287 a0002c0002t0002g0131 a0002c0002t0002g0235 a0002c0002t0003g0198 a0002c0005t0003g0162 a0002c0005t0005g0163 a0003c0004t0003g0161	22	83	0.2651	-9	c.60+ others(26): Show c.60+14005_60+14013delAATAATAAT		SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr8	TogoVar
SDCCAG8_chr1_243251041_243505091	243463439	GCTGACAG others(2): Show GCTGACAGCC	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01106.hp2 HG01109.hp2 others(8): Show HG00738.hp2 HG01106.hp2 HG01109.hp2 HG01243.hp2 HG02280.hp1 HG02280.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0001c0001t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0037 others(8): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0059 a0001c0001t0002g0077 a0002c0003t0001g0021 a0002c0003t0001g0164 a0002c0003t0001g0174	11	188	0.0585	-9	c.198 others(30): Show c.1986-25568_1986-25560delGCCCTGACA		SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SDF4_chr1_1211931_1237001	1231710	CCCCCGGG others(2): Show CCCCCGGGAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp1 others(66): Show HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00558.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01243.hp2 HG01515.hp2 HG01516.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01978.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp2 HG02258.hp1 HG02523.hp2 HG02717.hp1 HG02723.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03831.hp2 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18940.hp2 NA18951.hp2 NA18955.hp1 NA18966.hp1 NA18977.hp1 NA18979.hp1 NA18983.hp1 NA18984.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19009.hp2 NA19012.hp1 NA19056.hp1 NA19062.hp1 NA19070.hp1 NA19081.hp2 NA19090.hp1 NA20129.hp1 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0004 a0002c0005 others(4): Show a0001c0001 a0002c0004 a0002c0005 a0002c0006 a0002c0011 a0003c0009 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0002c0004t0005 a0002c0004t0022 a0002c0005t0005 a0002c0006t0007 a0002c0011t0005 a0003c0009t0005 a0004c0010t0009	a0001c0001t0001g0025 a0001c0001t0001g0059 a0001c0001t0001g0181 others(51): Show a0001c0001t0001g0025 a0001c0001t0001g0059 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0002g0015 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0204 a0001c0001t0002g0208 a0001c0001t0002g0211 a0001c0001t0002g0214 a0001c0001t0007g0209 a0001c0001t0007g0212 a0001c0001t0009g0213 a0002c0004t0005g0030 a0002c0004t0005g0067 a0002c0004t0005g0068 a0002c0004t0005g0069 a0002c0004t0005g0070 a0002c0004t0005g0071 a0002c0004t0022g0066 a0002c0005t0005g0201 a0002c0005t0005g0202 a0002c0006t0007g0206 a0002c0011t0005g0200 a0003c0009t0005g0072 a0004c0010t0009g0217	69	398	0.1734	-9	c.-17 others(26): Show c.-175+173_-175+181delTTCCCGGGG		SDF4	ENSG00000078808.20	transcript	ENST00000360001.12	protein_coding	1/6						chr1	TogoVar
SDHAF2_chr11_61425124_61451733	61427026	CAAAAAAA others(2): Show CAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01261.hp1 HG02895.hp1 others(4): Show HG01243.hp1 HG01261.hp1 HG02895.hp1 HG02897.hp1 HG03540.hp1 HG03942.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0035 a0001c0001t0003g0108 others(2): Show a0001c0001t0003g0012 a0001c0001t0003g0035 a0001c0001t0003g0108 a0001c0001t0003g0110 a0001c0001t0003g0111	7	176	0.0398	-9	c.-31 others(20): Show c.-3120_-3112delAAAAAAAAA		SDHAF2	ENSG00000167985.7	transcript	ENST00000301761.7	protein_coding					3097		chr11	TogoVar
SDHAF3_chr7_97112698_97186763	97142042	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00639.hp2 HG00642.hp1 others(34): Show HG00558.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00741.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01256.hp1 HG01258.hp2 HG01358.hp2 HG02135.hp2 HG02451.hp1 HG02523.hp2 HG02683.hp2 HG02698.hp1 HG02738.hp1 HG03041.hp2 HG03490.hp1 HG03492.hp2 HG04199.hp2 NA18522.hp2 NA18947.hp1 NA18952.hp1 NA18954.hp2 NA18961.hp1 NA18970.hp1 NA18977.hp1 NA18982.hp2 NA19010.hp2 NA19055.hp1 NA19077.hp2 NA19084.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(30): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0007g0015	37	184	0.2011	-9	c.174 others(28): Show c.174+24166_174+24174delTTTTTTTTT		SDHAF3	ENSG00000196636.8	transcript	ENST00000432641.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDHAF4_chr6_70561930_70594569	70588310	CAGGAGTT others(2): Show CAGGAGTTTG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02615.hp2 HG02622.hp2 others(7): Show HG02280.hp2 HG02615.hp2 HG02622.hp2 HG02717.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG03041.hp1 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0038 a0001c0001t0002g0215 others(2): Show a0001c0001t0002g0010 a0001c0001t0002g0038 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217	10	368	0.0272	-9	c.218 others(24): Show c.218-302_218-294delGAGTTTGAG		SDHAF4	ENSG00000154079.6	transcript	ENST00000370474.4	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr6	TogoVar
SDK1_chr7_3296252_4274000	3297643	GGAGGAGG others(2): Show GGAGGAGGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01243.hp2 HG01516.hp2 others(22): Show HG01167.hp2 HG01243.hp2 HG01516.hp2 HG01978.hp1 HG02451.hp1 HG02602.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp2 HG02965.hp2 HG02976.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03710.hp1 HG03710.hp2 NA18906.hp1 NA19030.hp2 NA19043.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0007 a0016 a0018 a0021 a0026 a0032 a0033 a0035	a0001c0004 a0001c0005 a0001c0010 others(20): Show a0001c0004 a0001c0005 a0001c0010 a0001c0011 a0001c0031 a0001c0037 a0001c0038 a0001c0040 a0001c0048 a0001c0071 a0001c0072 a0002c0013 a0003c0001 a0005c0057 a0007c0006 a0007c0044 a0016c0045 a0018c0024 a0021c0068 a0026c0028 a0032c0075 a0033c0051 a0035c0073	a0001c0004t0001 a0001c0005t0001 a0001c0005t0051 others(22): Show a0001c0004t0001 a0001c0005t0001 a0001c0005t0051 a0001c0010t0060 a0001c0011t0008 a0001c0031t0001 a0001c0037t0002 a0001c0038t0013 a0001c0040t0001 a0001c0048t0001 a0001c0071t0057 a0001c0072t0065 a0002c0013t0064 a0003c0001t0003 a0003c0001t0059 a0005c0057t0013 a0007c0006t0001 a0007c0044t0001 a0016c0045t0015 a0018c0024t0061 a0021c0068t0014 a0026c0028t0049 a0032c0075t0008 a0033c0051t0062 a0035c0073t0001	a0001c0004t0001g0039 a0001c0005t0001g0025 a0001c0005t0051g0030 others(22): Show a0001c0004t0001g0039 a0001c0005t0001g0025 a0001c0005t0051g0030 a0001c0010t0060g0017 a0001c0011t0008g0028 a0001c0031t0001g0018 a0001c0037t0002g0077 a0001c0038t0013g0038 a0001c0040t0001g0040 a0001c0048t0001g0029 a0001c0071t0057g0031 a0001c0072t0065g0027 a0002c0013t0064g0023 a0003c0001t0003g0037 a0003c0001t0059g0026 a0005c0057t0013g0045 a0007c0006t0001g0036 a0007c0044t0001g0020 a0016c0045t0015g0046 a0018c0024t0061g0013 a0021c0068t0014g0014 a0026c0028t0049g0035 a0032c0075t0008g0015 a0033c0051t0062g0019 a0035c0073t0001g0016	25	116	0.2155	-9	c.-39 others(20): Show c.-3943_-3935delGAGGAGGAA		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding					3608		chr7	TogoVar
SDK1_chr7_3296252_4274000	3409297	GTTTTTTT others(2): Show GTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02630.hp1 HG02738.hp1 others(2): Show HG01109.hp2 HG02630.hp1 HG02738.hp1 HG03540.hp1 NA19043.hp2	a0014 a0020 a0023 others(2): Show a0014 a0020 a0023 a0029 a0034	a0014c0085 a0020c0063 a0023c0083 others(2): Show a0014c0085 a0020c0063 a0023c0083 a0029c0084 a0034c0052	a0014c0085t0043 a0020c0063t0007 a0023c0083t0044 others(2): Show a0014c0085t0043 a0020c0063t0007 a0023c0083t0044 a0029c0084t0045 a0034c0052t0032	a0014c0085t0043g0010 a0020c0063t0007g0106 a0023c0083t0044g0004 others(2): Show a0014c0085t0043g0010 a0020c0063t0007g0106 a0023c0083t0044g0004 a0029c0084t0045g0011 a0034c0052t0032g0107	5	19	0.2632	-9	c.298 others(30): Show c.298+107421_298+107429delTTTTTTTTT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3629303	AAAAAAAA others(2): Show AAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG01123.hp1 others(13): Show HG00639.hp1 HG00735.hp2 HG01123.hp1 HG01167.hp2 HG01361.hp2 HG01516.hp2 HG01934.hp1 HG01978.hp1 HG02451.hp2 HG02602.hp1 HG02615.hp1 HG02723.hp2 HG02735.hp2 HG03491.hp1 HG03710.hp2 NA19043.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0007 a0019 a0026	a0001c0004 a0001c0005 a0001c0010 others(10): Show a0001c0004 a0001c0005 a0001c0010 a0001c0032 a0001c0036 a0001c0038 a0001c0059 a0001c0062 a0003c0001 a0004c0003 a0007c0044 a0019c0050 a0026c0028	a0001c0004t0001 a0001c0005t0001 a0001c0005t0051 others(13): Show a0001c0004t0001 a0001c0005t0001 a0001c0005t0051 a0001c0010t0002 a0001c0032t0058 a0001c0036t0033 a0001c0038t0013 a0001c0059t0027 a0001c0062t0053 a0003c0001t0003 a0003c0001t0059 a0003c0001t0066 a0004c0003t0052 a0007c0044t0001 a0019c0050t0019 a0026c0028t0049	a0001c0004t0001g0039 a0001c0005t0001g0025 a0001c0005t0051g0030 others(13): Show a0001c0004t0001g0039 a0001c0005t0001g0025 a0001c0005t0051g0030 a0001c0010t0002g0085 a0001c0032t0058g0043 a0001c0036t0033g0116 a0001c0038t0013g0038 a0001c0059t0027g0090 a0001c0062t0053g0042 a0003c0001t0003g0037 a0003c0001t0059g0026 a0003c0001t0066g0041 a0004c0003t0052g0069 a0007c0044t0001g0020 a0019c0050t0019g0092 a0026c0028t0049g0035	16	116	0.1379	-9	c.459 others(26): Show c.459-9676_459-9668delAAGAAAAAA		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	2/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3742708	ATATACTT others(2): Show ATATACTTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18906.hp1 NA20129.hp2 HG02145.hp2 NA18906.hp1 NA20129.hp2	a0001 a0032 a0035 a0001 a0032 a0035	a0001c0092 a0032c0075 a0035c0073 a0001c0092 a0032c0075 a0035c0073	a0001c0092t0048 a0032c0075t0008 a0035c0073t0001 a0001c0092t0048 a0032c0075t0008 a0035c0073t0001	a0001c0092t0048g0057 a0032c0075t0008g0015 a0035c0073t0001g0016 a0001c0092t0048g0057 a0032c0075t0008g0015 a0035c0073t0001g0016	3	116	0.0259	-9	c.714 others(28): Show c.714-78738_714-78730delACTTTTTAT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4055553	GTTTTTGT others(2): Show GTTTTTGTTT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01891.hp2 HG01934.hp2 others(11): Show HG00735.hp1 HG01891.hp2 HG01934.hp2 HG02145.hp1 HG02559.hp1 HG02647.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp2 NA19030.hp1	a0001 a0005 a0012 a0001 a0005 a0012	a0001c0002 a0001c0008 a0001c0010 others(10): Show a0001c0002 a0001c0008 a0001c0010 a0001c0061 a0001c0088 a0001c0091 a0001c0093 a0005c0055 a0005c0056 a0005c0057 a0005c0058 a0005c0065 a0012c0015	a0001c0002t0040 a0001c0008t0007 a0001c0010t0060 others(10): Show a0001c0002t0040 a0001c0008t0007 a0001c0010t0060 a0001c0061t0031 a0001c0088t0009 a0001c0091t0010 a0001c0093t0006 a0005c0055t0055 a0005c0056t0006 a0005c0057t0013 a0005c0058t0012 a0005c0065t0037 a0012c0015t0017	a0001c0002t0040g0084 a0001c0008t0007g0067 a0001c0010t0060g0017 others(11): Show a0001c0002t0040g0084 a0001c0008t0007g0067 a0001c0010t0060g0017 a0001c0061t0031g0100 a0001c0088t0009g0048 a0001c0091t0010g0055 a0001c0093t0006g0053 a0005c0055t0055g0021 a0005c0056t0006g0097 a0005c0057t0013g0045 a0005c0058t0012g0063 a0005c0065t0037g0065 a0012c0015t0017g0059 a0012c0015t0017g0066	14	116	0.1207	-9	c.291 others(28): Show c.2911+3727_2911+3735delTTGTTTTTT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	19/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4107111	CAGGGTGG others(2): Show CAGGGTGGGG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03471.hp2 HG03516.hp1 others(2): Show HG02559.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp1 NA18906.hp1	a0001 a0004 a0027 others(2): Show a0001 a0004 a0027 a0029 a0032	a0001c0091 a0004c0080 a0027c0089 others(2): Show a0001c0091 a0004c0080 a0027c0089 a0029c0084 a0032c0075	a0001c0091t0010 a0004c0080t0014 a0027c0089t0047 others(2): Show a0001c0091t0010 a0004c0080t0014 a0027c0089t0047 a0029c0084t0045 a0032c0075t0008	a0001c0091t0010g0055 a0004c0080t0014g0078 a0027c0089t0047g0056 others(2): Show a0001c0091t0010g0055 a0004c0080t0014g0078 a0027c0089t0047g0056 a0029c0084t0045g0011 a0032c0075t0008g0015	5	104	0.0481	-9	c.332 others(28): Show c.3325-3506_3325-3498delAGGGTGGGG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4162366	GTTGTTAT others(2): Show GTTGTTATTA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03516.hp2 HG00738.hp2 HG03516.hp2	a0001 a0028 a0001 a0028	a0001c0007 a0028c0018 a0001c0007 a0028c0018	a0001c0007t0021 a0028c0018t0071 a0001c0007t0021 a0028c0018t0071	a0001c0007t0021g0110 a0028c0018t0071g0005 a0001c0007t0021g0110 a0028c0018t0071g0005	2	111	0.0180	-9	c.480 others(26): Show c.4800+513_4800+521delGTTATTATT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	32/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4162369	GTTATTAT others(2): Show GTTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp2 HG01516.hp1 others(13): Show HG00735.hp1 HG01109.hp2 HG01516.hp1 HG02145.hp1 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02965.hp1 HG03225.hp2 HG03453.hp1 HG03516.hp1 HG03710.hp2 NA18522.hp2	a0001 a0002 a0005 others(7): Show a0001 a0002 a0005 a0007 a0010 a0014 a0022 a0024 a0027 a0031	a0001c0002 a0001c0008 a0001c0010 others(12): Show a0001c0002 a0001c0008 a0001c0010 a0001c0025 a0001c0059 a0002c0012 a0002c0013 a0005c0055 a0007c0044 a0010c0082 a0014c0085 a0022c0094 a0024c0023 a0027c0089 a0031c0069	a0001c0002t0040 a0001c0008t0004 a0001c0010t0060 others(12): Show a0001c0002t0040 a0001c0008t0004 a0001c0010t0060 a0001c0025t0024 a0001c0059t0027 a0002c0012t0016 a0002c0013t0064 a0005c0055t0055 a0007c0044t0001 a0010c0082t0001 a0014c0085t0043 a0022c0094t0025 a0024c0023t0030 a0027c0089t0047 a0031c0069t0069	a0001c0002t0040g0084 a0001c0008t0004g0095 a0001c0010t0060g0017 others(13): Show a0001c0002t0040g0084 a0001c0008t0004g0095 a0001c0010t0060g0017 a0001c0025t0024g0089 a0001c0059t0027g0090 a0002c0012t0016g0002 a0002c0012t0016g0003 a0002c0013t0064g0023 a0005c0055t0055g0021 a0007c0044t0001g0020 a0010c0082t0001g0076 a0014c0085t0043g0010 a0022c0094t0025g0049 a0024c0023t0030g0113 a0027c0089t0047g0056 a0031c0069t0069g0064	16	57	0.2807	-9	c.480 others(26): Show c.4800+552_4800+560delATTATTATT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	32/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4232398	TTTTCTTT others(2): Show TTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA19030.hp2 HG03041.hp1 NA19030.hp2	a0025 a0033 a0025 a0033	a0025c0081 a0033c0051 a0025c0081 a0033c0051	a0025c0081t0008 a0033c0051t0062 a0025c0081t0008 a0033c0051t0062	a0025c0081t0008g0075 a0033c0051t0062g0019 a0025c0081t0008g0075 a0033c0051t0062g0019	2	116	0.0172	-9	c.582 others(26): Show c.5828-848_5828-840delCTTTCTTTT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	40/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73408046	CCTTTTTT others(2): Show CCTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02698.hp1 HG02738.hp2 others(2): Show HG00323.hp1 HG02698.hp1 HG02738.hp2 HG03688.hp1 HG04204.hp1	a0004 a0010 a0013 others(1): Show a0004 a0010 a0013 a0022	a0004c0040 a0010c0099 a0010c0100 others(2): Show a0004c0040 a0010c0099 a0010c0100 a0013c0078 a0022c0081	a0004c0040t0028 a0010c0099t0013 a0010c0100t0069 others(2): Show a0004c0040t0028 a0010c0099t0013 a0010c0100t0069 a0013c0078t0005 a0022c0081t0001	a0004c0040t0028g0129 a0010c0099t0013g0135 a0010c0100t0069g0091 others(2): Show a0004c0040t0028g0129 a0010c0099t0013g0135 a0010c0100t0069g0091 a0013c0078t0005g0010 a0022c0081t0001g0182	5	107	0.0467	-9	c.248 others(28): Show c.2485-5914_2485-5906delAAAAAAAAG		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	18/44						chr17	TogoVar
SDK2_chr17_73329384_73649445	73483698	TATATATA others(2): Show TATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03704.hp2 HG00280.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0032 a0001c0010t0004 a0001c0001t0032 a0001c0010t0004	a0001c0001t0032g0001 a0001c0010t0004g0165 a0001c0001t0032g0001 a0001c0010t0004g0165	2	202	0.0099	-9	c.225 others(28): Show c.225-11489_225-11481delTATATATAT		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44						chr17	TogoVar
SDK2_chr17_73329384_73649445	73500443	CCCTCCAT others(2): Show CCCTCCATCT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01099.hp1 HG02055.hp2 others(14): Show HG00558.hp1 HG01099.hp1 HG02055.hp2 HG02165.hp1 HG02451.hp2 HG02486.hp1 HG02630.hp2 HG02818.hp2 HG03041.hp1 HG03209.hp2 HG03225.hp2 HG03704.hp2 HG03942.hp2 HG04228.hp1 NA18942.hp2 NA19030.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0008 a0012 a0019	a0001c0001 a0001c0003 a0001c0005 others(12): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0001c0014 a0001c0015 a0001c0025 a0001c0073 a0001c0094 a0002c0061 a0003c0009 a0004c0054 a0008c0090 a0012c0107 a0019c0092	a0001c0001t0001 a0001c0003t0051 a0001c0003t0090 others(14): Show a0001c0001t0001 a0001c0003t0051 a0001c0003t0090 a0001c0005t0001 a0001c0005t0048 a0001c0010t0004 a0001c0014t0004 a0001c0015t0030 a0001c0025t0016 a0001c0073t0038 a0001c0094t0005 a0002c0061t0002 a0003c0009t0087 a0004c0054t0022 a0008c0090t0023 a0012c0107t0031 a0019c0092t0007	a0001c0001t0001g0196 a0001c0003t0051g0047 a0001c0003t0090g0134 others(14): Show a0001c0001t0001g0196 a0001c0003t0051g0047 a0001c0003t0090g0134 a0001c0005t0001g0053 a0001c0005t0048g0146 a0001c0010t0004g0165 a0001c0014t0004g0171 a0001c0015t0030g0131 a0001c0025t0016g0056 a0001c0073t0038g0080 a0001c0094t0005g0090 a0002c0061t0002g0159 a0003c0009t0087g0008 a0004c0054t0022g0085 a0008c0090t0023g0072 a0012c0107t0031g0126 a0019c0092t0007g0116	17	202	0.0842	-9	c.224 others(26): Show c.224+6986_224+6994delAGATGGAGG		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44						chr17	TogoVar
SDK2_chr17_73329384_73649445	73636698	AAAAAAAA others(2): Show AAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02818.hp1 HG03098.hp1 others(2): Show HG02559.hp2 HG02818.hp1 HG03098.hp1 HG03516.hp2 NA18522.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0003 a0001c0033 a0001c0053 others(2): Show a0001c0003 a0001c0033 a0001c0053 a0005c0012 a0006c0085	a0001c0003t0061 a0001c0033t0052 a0001c0053t0022 others(2): Show a0001c0003t0061 a0001c0033t0052 a0001c0053t0022 a0005c0012t0058 a0006c0085t0095	a0001c0003t0061g0042 a0001c0033t0052g0002 a0001c0053t0022g0040 others(2): Show a0001c0003t0061g0042 a0001c0033t0052g0002 a0001c0053t0022g0040 a0005c0012t0058g0041 a0006c0085t0095g0043	5	202	0.0248	-9	c.64+ others(24): Show c.64+7318_64+7326delCTTTTTTTT		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44						chr17	TogoVar
SEC11A_chr15_84664544_84721139	84700593	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01261.hp1 HG01358.hp2 others(6): Show HG01123.hp1 HG01261.hp1 HG01358.hp2 HG02486.hp1 HG02717.hp2 HG02735.hp1 HG02818.hp1 HG03471.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0095 a0001c0001t0001g0155 others(6): Show a0001c0001t0001g0022 a0001c0001t0001g0095 a0001c0001t0001g0155 a0001c0001t0001g0167 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0231 a0001c0001t0001g0242 a0001c0001t0001g0244	9	16	0.5625	-9	c.52- others(24): Show c.52-8958_52-8950delTTTTTTTTT		SEC11A	ENSG00000140612.14	transcript	ENST00000268220.12	protein_coding	1/5						chr15	TogoVar
SEC11C_chr18_59134884_59163832	59143352	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA18971.hp2 NA18979.hp1 others(3): Show HG02257.hp1 NA18971.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0091 a0001c0001t0001g0119 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0091 a0001c0001t0001g0119 a0001c0001t0001g0120	6	81	0.0741	-9	c.87+ others(24): Show c.87+3332_87+3340delAAAAAAAAA		SEC11C	ENSG00000166562.9	transcript	ENST00000587834.6	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr18	TogoVar
SEC13_chr3_10295931_10326112	10310039	ATCACAGA others(2): Show ATCACAGAGC	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01099.hp2 HG01106.hp2 others(7): Show HG00621.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG02109.hp2 HG02145.hp1 HG02717.hp2 HG02976.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0213 others(5): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222	10	378	0.0265	-9	c.450 others(26): Show c.450+1917_450+1925delGCTCTGTGA		SEC13	ENSG00000157020.18	transcript	ENST00000350697.8	protein_coding	5/8						chr3	TogoVar
SEC14L1_chr17_77135969_77222101	77169007	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02965.hp1 HG02970.hp1 others(3): Show HG02717.hp1 HG02965.hp1 HG02970.hp1 HG03486.hp1 NA18972.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0004 a0001c0005t0011 a0001c0001t0004 a0001c0005t0011	a0001c0001t0004g0050 a0001c0001t0004g0099 a0001c0005t0011g0008 others(2): Show a0001c0001t0004g0050 a0001c0001t0004g0099 a0001c0005t0011g0008 a0001c0005t0011g0178 a0001c0005t0011g0179	6	19	0.3158	-9	c.64- others(26): Show c.64-21774_64-21766delTTTTTTTTT		SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L4_chr22_30483902_30510695	30504041	ATTTTTAT others(2): Show ATTTTTATAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03225.hp1 HG03516.hp1 HG03098.hp2 HG03225.hp1 HG03516.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0005 a0003c0006t0005	a0003c0006t0005g0237 a0003c0006t0005g0274 a0003c0006t0005g0275 a0003c0006t0005g0237 a0003c0006t0005g0274 a0003c0006t0005g0275	3	422	0.0071	-9	c.55- others(22): Show c.55-298_55-290delATATAAAAA		SEC14L4	ENSG00000133488.15	transcript	ENST00000255858.12	protein_coding	1/11						chr22	TogoVar
SEC14L5_chr16_4953330_5024157	5010188	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01361.hp1 HG02080.hp1 others(6): Show HG00438.hp2 HG01361.hp1 HG02080.hp1 HG02300.hp1 NA19009.hp2 NA19066.hp2 NA19067.hp1 NA19079.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0001c0010 a0003c0030	a0001c0001t0003 a0001c0003t0003 a0001c0006t0003 others(2): Show a0001c0001t0003 a0001c0003t0003 a0001c0006t0003 a0001c0010t0013 a0003c0030t0003	a0001c0001t0003g0054 a0001c0001t0003g0310 a0001c0001t0003g0336 others(6): Show a0001c0001t0003g0054 a0001c0001t0003g0310 a0001c0001t0003g0336 a0001c0003t0003g0285 a0001c0003t0003g0304 a0001c0003t0003g0324 a0001c0006t0003g0201 a0001c0010t0013g0349 a0003c0030t0003g0335	9	94	0.0957	-9	c.180 others(26): Show c.1801-886_1801-878delAAAAAAAAA		SEC14L5	ENSG00000103184.12	transcript	ENST00000251170.12	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
SEC22A_chr3_123196943_123279136	123260131	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(49): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00597.hp1 HG00733.hp2 HG01099.hp1 HG01175.hp2 HG01257.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG02015.hp2 HG02071.hp1 HG02074.hp1 HG02258.hp2 HG02683.hp1 HG02738.hp1 HG03209.hp2 HG03927.hp1 HG04115.hp2 HG04204.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18962.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18990.hp2 NA18993.hp2 NA19001.hp2 NA19003.hp2 NA19004.hp2 NA19010.hp2 NA19043.hp2 NA19056.hp1 NA19067.hp1 NA19074.hp1 NA19075.hp1 NA19078.hp2 NA19081.hp1 NA19086.hp2 NA19091.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0002 a0003c0003t0001	a0001c0001t0001g0307 a0001c0001t0002g0071 a0001c0001t0002g0072 others(49): Show a0001c0001t0001g0307 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0334 a0001c0001t0004g0007 a0001c0001t0004g0010 a0002c0002t0002g0149 a0003c0003t0001g0212	52	79	0.6582	-9	c.723 others(24): Show c.723+572_723+580delAAAAAAAAA		SEC22A	ENSG00000121542.12	transcript	ENST00000492595.6	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC22A_chr3_123196943_123279136	123269625	ATTTTTTT others(2): Show ATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG01934.hp1 others(10): Show HG01109.hp2 HG01884.hp1 HG01934.hp1 HG02280.hp2 HG02559.hp1 HG02630.hp1 HG02717.hp2 HG03041.hp2 HG03195.hp2 HG03225.hp2 HG03516.hp1 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0020 a0001c0001t0003 a0001c0001t0020	a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 others(10): Show a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0059 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0020g0053	13	127	0.1024	-9	c.724 others(26): Show c.724-1880_724-1872delTTTTTTTTT		SEC22A	ENSG00000121542.12	transcript	ENST00000492595.6	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC23A_chr14_39026919_39108235	39065997	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02080.hp2 NA18981.hp2 others(5): Show HG02027.hp2 HG02080.hp2 NA18981.hp2 NA19000.hp2 NA19004.hp1 NA19005.hp2 NA19054.hp1 NA19067.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0181 others(5): Show a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0181 a0002c0002t0001g0196 a0002c0002t0001g0222 a0002c0002t0001g0226 a0002c0002t0001g0233 a0002c0002t0001g0237	8	100	0.0800	-9	c.122 others(28): Show c.1228-1013_1228-1005delTTTTTTTTT		SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	10/19						chr14	TogoVar
SEC24A_chr5_134643785_134732909	134655551	CAGCCTCC others(2): Show CAGCCTCCTG	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02735.hp1 HG03492.hp1 HG01981.hp1 HG02735.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0013g0284 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0013g0284	3	316	0.0095	-9	c.98- others(24): Show c.98-5565_98-5557delCCTCCTGAG		SEC24A	ENSG00000113615.13	transcript	ENST00000398844.7	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
SEC24D_chr4_118717823_118841126	118780907	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01884.hp1 HG02572.hp1 others(4): Show HG00738.hp1 HG01884.hp1 HG02572.hp1 HG03098.hp1 HG03195.hp2 HG03239.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0001 a0002c0006t0001 a0001c0002t0001 a0002c0006t0001	a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0162 others(4): Show a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0162 a0002c0006t0001g0051 a0002c0006t0001g0052 a0002c0006t0001g0055 a0002c0006t0001g0056	7	176	0.0398	-9	c.104 others(30): Show c.1042-12605_1042-12597delAAAAAAAAA		SEC24D	ENSG00000150961.15	transcript	ENST00000280551.11	protein_coding	8/22						chr4	TogoVar
SEL1L2_chr20_13844247_13995614	13848391	AGAAGAAA others(2): Show AGAAGAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00735.hp1 HG01081.hp2 others(34): Show HG00423.hp2 HG00735.hp1 HG01081.hp2 HG01109.hp1 HG01261.hp2 HG02071.hp1 HG02083.hp2 HG02132.hp1 HG02293.hp1 HG02300.hp2 HG02683.hp2 HG03239.hp2 HG03491.hp1 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04184.hp2 HG04228.hp1 NA18942.hp1 NA18943.hp1 NA18948.hp1 NA18949.hp1 NA18952.hp2 NA18956.hp2 NA18960.hp2 NA18975.hp1 NA18990.hp2 NA18997.hp2 NA19000.hp2 NA19009.hp1 NA19011.hp1 NA19056.hp2 NA19064.hp1 NA19079.hp1 NA19082.hp1 NA19087.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0013 a0003c0005 others(1): Show a0001c0001 a0001c0013 a0003c0005 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0013t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0013t0002 a0003c0005t0002 a0007c0010t0002	a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0001g0118 others(34): Show a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0145 a0001c0001t0001g0192 a0001c0001t0001g0224 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0064 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0013t0002g0057 a0003c0005t0002g0036 a0007c0010t0002g0035	37	322	0.1149	-9	c.10 others(20): Show c.1085_*1093delCTTTTCTTC		SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding					855		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848516	AAGGAGAA others(2): Show AAGGAGAAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00733.hp2 others(25): Show HG00099.hp1 HG00423.hp1 HG00733.hp2 HG00735.hp2 HG01884.hp2 HG01943.hp2 HG01975.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02083.hp1 HG02155.hp2 HG02300.hp1 HG02451.hp1 HG02572.hp1 NA18966.hp1 NA18970.hp1 NA18988.hp1 NA18994.hp1 NA18995.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19067.hp1 NA19080.hp1 NA19082.hp2 NA20300.hp1 NA20805.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0015 a0001c0001 a0010c0015	a0001c0001t0001 a0001c0001t0002 a0010c0015t0001 a0001c0001t0001 a0001c0001t0002 a0010c0015t0001	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0101 others(25): Show a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0101 a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0209 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0002g0003 a0001c0001t0002g0033 a0001c0001t0002g0066 a0010c0015t0001g0151	28	284	0.0986	-9	c.96 others(18): Show c.960_*968delCCTTCTCCT		SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding					730		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13932407	AATTATTA others(2): Show AATTATTATT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(157): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01261.hp2 HG01358.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02735.hp2 HG02886.hp1 HG02895.hp1 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03239.hp2 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 NA18747.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp2 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19054.hp1 NA19056.hp2 NA19057.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19087.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20805.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0004 a0001c0013 others(10): Show a0001c0001 a0001c0004 a0001c0013 a0001c0016 a0002c0002 a0002c0009 a0003c0005 a0003c0012 a0006c0008 a0007c0010 a0008c0014 a0009c0017 a0010c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0004t0001 a0001c0013t0002 a0001c0016t0001 a0002c0002t0003 a0002c0002t0004 a0002c0009t0003 a0003c0005t0002 a0003c0012t0002 a0006c0008t0003 a0007c0010t0002 a0008c0014t0002 a0009c0017t0002 a0010c0015t0001	a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0138 others(157): Show a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0169 a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0316 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0006g0264 a0001c0004t0001g0137 a0001c0013t0002g0057 a0001c0016t0001g0216 a0002c0002t0003g0139 a0002c0002t0003g0219 a0002c0002t0003g0222 a0002c0002t0003g0239 a0002c0002t0003g0246 a0002c0002t0003g0249 a0002c0002t0003g0268 a0002c0002t0003g0274 a0002c0002t0003g0275 a0002c0002t0003g0306 a0002c0002t0003g0307 a0002c0002t0003g0308 a0002c0002t0004g0014 a0002c0002t0004g0015 a0002c0002t0004g0041 a0002c0009t0003g0257 a0002c0009t0003g0273 a0003c0005t0002g0007 a0003c0005t0002g0008 a0003c0005t0002g0011 a0003c0005t0002g0036 a0003c0005t0002g0052 a0003c0012t0002g0055 a0003c0012t0002g0056 a0006c0008t0003g0221 a0006c0008t0003g0229 a0007c0010t0002g0035 a0008c0014t0002g0063 a0009c0017t0002g0040 a0010c0015t0001g0151	160	170	0.9412	-9	c.115 others(24): Show c.115-645_115-637delAATAATAAT		SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19						chr20	TogoVar
SEL1L3_chr4_25742433_25867988	25831507	AATAATTA others(2): Show AATAATTATT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02896.hp2 HG02922.hp1 HG02723.hp1 HG02896.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0002g0294 a0001c0001t0004g0130 a0001c0001t0005g0300 a0001c0001t0002g0294 a0001c0001t0004g0130 a0001c0001t0005g0300	3	276	0.0109	-9	c.109 others(28): Show c.1099-1360_1099-1352delAATAATTAT		SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding	5/23						chr4	TogoVar
SEL1L3_chr4_25742433_25867988	25831510	AATTATTA others(2): Show AATTATTATT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02109.hp1 others(20): Show HG01070.hp1 HG01071.hp2 HG02109.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02572.hp1 HG02630.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02965.hp2 HG03130.hp1 HG03139.hp1 HG03453.hp1 HG03516.hp2 HG03540.hp1 HG04115.hp1 HG06807.hp1 NA18522.hp2 NA19030.hp2 NA19240.hp1	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0014	a0001c0001 a0001c0008 a0001c0017 others(7): Show a0001c0001 a0001c0008 a0001c0017 a0002c0002 a0002c0005 a0002c0009 a0002c0013 a0002c0018 a0010c0016 a0014c0026	a0001c0001t0002 a0001c0001t0003 a0001c0008t0002 others(14): Show a0001c0001t0002 a0001c0001t0003 a0001c0008t0002 a0001c0008t0012 a0001c0017t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0005t0001 a0002c0005t0003 a0002c0005t0006 a0002c0009t0003 a0002c0009t0004 a0002c0013t0014 a0002c0018t0002 a0010c0016t0002 a0014c0026t0013	a0001c0001t0002g0233 a0001c0001t0003g0286 a0001c0008t0002g0142 others(18): Show a0001c0001t0002g0233 a0001c0001t0003g0286 a0001c0008t0002g0142 a0001c0008t0012g0143 a0001c0017t0002g0144 a0002c0002t0001g0279 a0002c0002t0002g0277 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0006g0267 a0002c0005t0001g0156 a0002c0005t0001g0157 a0002c0005t0003g0122 a0002c0005t0006g0001 a0002c0009t0003g0278 a0002c0009t0004g0268 a0002c0009t0004g0269 a0002c0013t0014g0127 a0002c0018t0002g0158 a0010c0016t0002g0141 a0014c0026t0013g0280	23	185	0.1243	-9	c.109 others(28): Show c.1099-1363_1099-1355delAATAATAAT		SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding	5/23						chr4	TogoVar
SEL1L_chr14_81466547_81538853	81467572	TTTGTTGT others(2): Show TTTGTTGTTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02630.hp1 HG02647.hp2 others(9): Show HG02257.hp2 HG02630.hp1 HG02647.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG06807.hp1 NA18522.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0034 a0001c0001t0035 a0001c0002t0005 a0001c0003t0011 a0001c0003t0020	a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0002g0072 others(9): Show a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0002g0072 a0001c0001t0013g0037 a0001c0001t0013g0039 a0001c0001t0034g0306 a0001c0001t0035g0301 a0001c0002t0005g0308 a0001c0003t0011g0046 a0001c0003t0011g0049 a0001c0003t0011g0050 a0001c0003t0020g0047	12	214	0.0561	-9	c.93 others(20): Show c.9391_*9399delCAACAACAA		SEL1L	ENSG00000071537.14	transcript	ENST00000336735.9	protein_coding					3974		chr14	TogoVar
SEL1L_chr14_81466547_81538853	81482615	TAAGTGGC others(2): Show TAAGTGGCAG	T T	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02735.hp1 HG03491.hp2 others(3): Show HG02698.hp2 HG02735.hp1 HG03491.hp2 HG03654.hp1 HG03831.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0217 a0001c0001t0001g0229 others(3): Show a0001c0001t0001g0111 a0001c0001t0001g0217 a0001c0001t0001g0229 a0001c0001t0001g0244 a0001c0001t0001g0273 a0001c0001t0001g0279	6	358	0.0168	-9	c.204 others(28): Show c.2046+1601_2046+1609delCTGCCACTT		SEL1L	ENSG00000071537.14	transcript	ENST00000336735.9	protein_coding	19/20						chr14	TogoVar
SELENOI_chr2_26341143_26400885	26398037	CTTTTTTT others(2): Show CTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01496.hp1 HG02055.hp2 others(4): Show HG00741.hp2 HG01496.hp1 HG02055.hp2 HG03195.hp2 HG03516.hp2 NA18522.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0029 a0001c0001t0008g0030 a0001c0001t0008g0031 others(4): Show a0001c0001t0008g0029 a0001c0001t0008g0030 a0001c0001t0008g0031 a0001c0001t0008g0238 a0001c0001t0008g0239 a0001c0001t0008g0240 a0001c0001t0008g0241	7	18	0.3889	-9	c.89 others(20): Show c.8935_*8943delTTTTTTTTT		SELENOI	ENSG00000138018.19	transcript	ENST00000260585.12	protein_coding					2153		chr2	TogoVar
SELENOI_chr2_26341143_26400885	26399680	CAAAAAAA others(2): Show CAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01496.hp1 HG02055.hp2 others(6): Show HG00741.hp2 HG01496.hp1 HG02055.hp2 HG02572.hp2 HG02647.hp1 HG03195.hp2 HG03516.hp2 NA18522.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0028 a0001c0001t0008g0029 a0001c0001t0008g0030 others(6): Show a0001c0001t0008g0028 a0001c0001t0008g0029 a0001c0001t0008g0030 a0001c0001t0008g0031 a0001c0001t0008g0238 a0001c0001t0008g0239 a0001c0001t0008g0240 a0001c0001t0008g0241 a0001c0001t0008g0242	9	130	0.0692	-9	c.10 others(22): Show c.10578_*10586delAAAAAAAAA		SELENOI	ENSG00000138018.19	transcript	ENST00000260585.12	protein_coding					3796		chr2	TogoVar
SELENOV_chr19_39510139_39525675	39518286	CAAAAAAA others(2): Show CAAAAAAACA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(112): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01081.hp2 HG01106.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG03098.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18950.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18960.hp2 NA18966.hp2 NA18968.hp1 NA18971.hp1 NA18972.hp2 NA18974.hp1 NA18975.hp2 NA18976.hp2 NA18980.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19043.hp2 NA19059.hp2 NA19060.hp1 NA19065.hp1 NA19067.hp1 NA19068.hp1 NA19072.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19240.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 others(1): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 a0001c0012t0001	a0001c0002t0001g0004 a0001c0002t0001g0013 a0001c0002t0001g0017 others(65): Show a0001c0002t0001g0004 a0001c0002t0001g0013 a0001c0002t0001g0017 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0033 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0066 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0001g0091 a0001c0002t0001g0110 a0001c0002t0001g0134 a0001c0002t0001g0140 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0179 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0189 a0001c0002t0001g0192 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0003g0023 a0001c0002t0003g0036 a0001c0002t0008g0181 a0001c0012t0001g0004	115	353	0.3258	-9	c.810 others(24): Show c.810-314_810-306delCAAAAAAAA		SELENOV	ENSG00000186838.15	transcript	ENST00000335426.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
SEMA3A_chr7_83950777_84199789	83976285	TAAATATT others(2): Show TAAATATTAA	T T	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18941.hp2 NA19083.hp1 HG02155.hp1 NA18941.hp2 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0010 a0002c0006t0010 a0001c0001t0010 a0002c0006t0010	a0001c0001t0010g0180 a0002c0006t0010g0004 a0002c0006t0010g0005 a0001c0001t0010g0180 a0002c0006t0010g0004 a0002c0006t0010g0005	3	274	0.0109	-9	c.171 others(26): Show c.1717+838_1717+846delTTAATATTT		SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16						chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84058101	AAATATTT others(2): Show AAATATTTGC	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00741.hp1 HG01106.hp1 others(41): Show HG00544.hp2 HG00741.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG02015.hp2 HG02129.hp2 HG02132.hp2 HG02165.hp1 HG02559.hp1 HG03490.hp2 HG03492.hp2 HG03927.hp2 HG04115.hp1 NA18942.hp2 NA18945.hp2 NA18951.hp1 NA18956.hp1 NA18960.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp2 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18981.hp2 NA18984.hp2 NA18985.hp2 NA18991.hp1 NA18993.hp2 NA19001.hp2 NA19007.hp1 NA19011.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp2 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19086.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0013 a0003c0014	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0002t0002 a0001c0002t0038 a0001c0003t0008 a0001c0003t0012 a0001c0005t0001 a0001c0013t0002 a0003c0014t0008	a0001c0001t0001g0035 a0001c0001t0001g0055 a0001c0001t0001g0064 others(41): Show a0001c0001t0001g0035 a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0001g0122 a0001c0001t0001g0198 a0001c0001t0004g0094 a0001c0001t0004g0108 a0001c0001t0009g0061 a0001c0002t0002g0018 a0001c0002t0002g0022 a0001c0002t0002g0030 a0001c0002t0002g0038 a0001c0002t0002g0042 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0002g0058 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0109 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0138 a0001c0002t0002g0147 a0001c0002t0002g0171 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0193 a0001c0002t0002g0210 a0001c0002t0002g0233 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0262 a0001c0002t0002g0271 a0001c0002t0002g0274 a0001c0002t0038g0020 a0001c0003t0008g0076 a0001c0003t0012g0189 a0001c0005t0001g0191 a0001c0013t0002g0031 a0003c0014t0008g0160	44	274	0.1606	-9	c.547 others(26): Show c.547+2355_547+2363delGCAAATATT		SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	5/16						chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84072675	GGAGGTGA others(2): Show GGAGGTGAAA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00639.hp1 HG00741.hp1 others(44): Show HG00544.hp2 HG00639.hp1 HG00741.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG02015.hp2 HG02129.hp2 HG02132.hp2 HG02165.hp1 HG02886.hp1 HG03041.hp2 HG03490.hp2 HG03492.hp2 HG03927.hp2 HG04115.hp1 HG06807.hp2 NA18942.hp2 NA18945.hp2 NA18951.hp1 NA18956.hp1 NA18960.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp2 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18981.hp2 NA18984.hp2 NA18985.hp2 NA18991.hp1 NA18993.hp2 NA19001.hp2 NA19007.hp1 NA19011.hp1 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp2 NA19080.hp2 NA19082.hp1 NA19086.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0013	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0002t0002 a0001c0002t0038 a0001c0003t0006 a0001c0003t0008 a0001c0003t0012 a0001c0005t0001 a0001c0013t0002	a0001c0001t0001g0035 a0001c0001t0001g0064 a0001c0001t0001g0122 others(44): Show a0001c0001t0001g0035 a0001c0001t0001g0064 a0001c0001t0001g0122 a0001c0001t0001g0198 a0001c0001t0004g0094 a0001c0001t0004g0108 a0001c0001t0009g0061 a0001c0002t0002g0018 a0001c0002t0002g0022 a0001c0002t0002g0030 a0001c0002t0002g0038 a0001c0002t0002g0042 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0002g0058 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0109 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0138 a0001c0002t0002g0147 a0001c0002t0002g0171 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0193 a0001c0002t0002g0210 a0001c0002t0002g0233 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0262 a0001c0002t0002g0271 a0001c0002t0002g0274 a0001c0002t0038g0020 a0001c0003t0006g0014 a0001c0003t0006g0155 a0001c0003t0006g0156 a0001c0003t0006g0163 a0001c0003t0006g0219 a0001c0003t0008g0068 a0001c0003t0012g0189 a0001c0005t0001g0191 a0001c0013t0002g0031	47	274	0.1715	-9	c.454 others(28): Show c.454-12126_454-12118delTTTCACCTC		SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16						chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84185519	TAAAAAAT others(2): Show TAAAAAATAA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02451.hp1 HG02559.hp1 others(10): Show HG00639.hp1 HG02451.hp1 HG02559.hp1 HG02622.hp2 HG02965.hp2 HG03041.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG04184.hp2 NA18522.hp1 NA19030.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0003c0014	a0001c0001t0007 a0001c0001t0009 a0001c0003t0006 others(4): Show a0001c0001t0007 a0001c0001t0009 a0001c0003t0006 a0001c0003t0012 a0001c0004t0008 a0001c0005t0001 a0003c0014t0008	a0001c0001t0007g0158 a0001c0001t0009g0162 a0001c0001t0009g0165 others(10): Show a0001c0001t0007g0158 a0001c0001t0009g0162 a0001c0001t0009g0165 a0001c0003t0006g0155 a0001c0003t0006g0156 a0001c0003t0006g0161 a0001c0003t0006g0163 a0001c0003t0012g0154 a0001c0004t0008g0157 a0001c0005t0001g0002 a0001c0005t0001g0159 a0001c0005t0001g0164 a0003c0014t0008g0160	13	274	0.0474	-9	c.112 others(26): Show c.112+8947_112+8955delTTATTTTTT		SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	1/16						chr7	TogoVar

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