Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
SATB2_chr2_199264505_199462939	199386714	GCGCACAC others(11): Show GCGCACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	246	0.0041	-18	c.347 others(35): Show c.347-4912_347-4895delTGTGTGTGTGTGTGTGCG		SATB2	ENSG00000119042.18	transcript	ENST00000417098.6	protein_coding	3/10						chr2	TogoVar
SATL1_chrX_85087284_85248779	85156813	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18950.hp1 HG02109.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0038 a0001c0001t0004g0049 a0001c0001t0002g0038 a0001c0001t0004g0049	2	11	0.1818	-18	c.-31 others(39): Show c.-312-47551_-312-47534delTATATATATATATATATA		SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	2/7						chrX	TogoVar
SATL1_chrX_85087284_85248779	85220644	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03669.hp1 NA19005.hp1 HG02145.hp1 HG03669.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0037 a0001c0001t0002g0044 a0001c0001t0002g0028 a0001c0001t0002g0037 a0001c0001t0002g0044	3	22	0.1364	-18	c.-31 others(37): Show c.-313+3543_-313+3560delTTTTTTTTTTTTTTTTTT		SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	2/7						chrX	TogoVar
SAYSD1_chr6_39099063_39120186	39114903	CCCGGGCA others(11): Show CCCGGGCACTCGCGGGCCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18981.hp1 NA19011.hp2 NA19054.hp1 NA18981.hp1 NA19011.hp2 NA19054.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0036	3	458	0.0066	-18	c.169 others(25): Show c.169_186delAGGCCCGCGAGTGCCCGG	p.Arg others(11): Show p.Arg57_Arg62del	SAYSD1	ENSG00000112167.11	transcript	ENST00000229903.5	protein_coding	1/2	283/2018	169/552	57/183			chr6	TogoVar
SBF2_chr11_9773668_10299219	9942903	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00558.hp1 others(47): Show HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01361.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02615.hp1 HG02895.hp1 HG02897.hp1 HG03516.hp1 HG03540.hp1 HG03688.hp1 HG03704.hp1 NA18906.hp1 NA18939.hp1 NA18946.hp1 NA18948.hp2 NA18951.hp2 NA18966.hp2 NA18969.hp2 NA18973.hp1 NA18986.hp2 NA18995.hp1 NA18999.hp1 NA19002.hp2 NA19005.hp1 NA19012.hp1 NA19056.hp2 NA19058.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19082.hp1 NA19088.hp1 NA20129.hp1 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0001c0012 others(3): Show a0001c0001 a0001c0003 a0001c0012 a0002c0002 a0003c0004 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0012t0005 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0003c0004t0003 a0005c0010t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0034 others(47): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0002g0023 a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0001t0003g0020 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0030 a0001c0001t0003g0033 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0067 a0001c0001t0003g0091 a0001c0001t0003g0149 a0001c0001t0012g0001 a0001c0003t0002g0155 a0001c0003t0002g0160 a0001c0003t0002g0164 a0001c0003t0002g0165 a0001c0003t0002g0175 a0001c0003t0004g0156 a0001c0003t0004g0157 a0001c0003t0004g0158 a0001c0003t0004g0159 a0001c0003t0005g0163 a0001c0012t0005g0194 a0002c0002t0001g0002 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0003g0035 a0002c0002t0004g0009 a0002c0002t0004g0013 a0002c0002t0004g0019 a0003c0004t0003g0008 a0003c0004t0003g0010 a0003c0004t0003g0021 a0003c0004t0003g0022 a0003c0004t0003g0027 a0003c0004t0003g0031 a0003c0004t0003g0068 a0003c0004t0003g0136 a0005c0010t0001g0084 a0005c0010t0001g0174	50	157	0.3185	-18	c.186 others(39): Show c.1860+19036_1860+19053delTTCTTTCTTTCTTTCTTT		SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	16/39						chr11	TogoVar
SBF2_chr11_9773668_10299219	9967939	GTCTGTCT others(11): Show GTCTGTCTGTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02135.hp2 NA18995.hp1 others(1): Show HG01243.hp1 HG02135.hp2 NA18995.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0003c0004t0003 a0001c0001t0003 a0003c0004t0003	a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0042 others(1): Show a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0042 a0003c0004t0003g0136	4	160	0.0250	-18	c.160 others(35): Show c.1600+384_1600+401delGAGAGAGAGACAGACAGA		SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	14/39						chr11	TogoVar
SBF2_chr11_9773668_10299219	9967959	CTCTCTCT others(11): Show CTCTCTCTCTCTCTATATA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01099.hp2 HG01361.hp1 others(2): Show HG00735.hp2 HG01099.hp2 HG01361.hp1 HG03516.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0004g0009 others(2): Show a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0004g0009 a0002c0002t0004g0013 a0002c0002t0004g0019	5	214	0.0234	-18	c.160 others(35): Show c.1600+364_1600+381delTATATAGAGAGAGAGAGA		SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	14/39						chr11	TogoVar
SBF2_chr11_9773668_10299219	10055524	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0179 a0001c0001t0013g0179	1	6	0.1667	-18	c.142 others(37): Show c.142-12561_142-12544delGTGTGTGTGTGTGTGTGT		SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	2/39						chr11	TogoVar
SBF2_chr11_9773668_10299219	10204872	ATATAGGG others(11): Show ATATAGGGTTTCTTTGGGG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	222	0.0045	-18	c.56- others(35): Show c.56-10903_56-10886delCCCCAAAGAAACCCTATA		SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39						chr11	TogoVar
SBF2_chr11_9773668_10299219	10223399	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01099.hp1 HG01109.hp2 others(10): Show HG00639.hp2 HG01099.hp1 HG01109.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01515.hp2 HG02055.hp1 HG02922.hp2 HG02970.hp1 HG03831.hp2 HG04115.hp1 NA20752.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0005t0001 a0002c0002t0004 a0004c0006t0004	a0001c0001t0001g0211 a0001c0001t0002g0220 a0001c0001t0002g0221 others(10): Show a0001c0001t0001g0211 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0004g0214 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0007g0208 a0001c0001t0007g0212 a0001c0005t0001g0209 a0001c0005t0001g0210 a0002c0002t0004g0215 a0004c0006t0004g0213 a0004c0006t0004g0218	13	57	0.2281	-18	c.56- others(35): Show c.56-29430_56-29413delTATATATATATATATATA		SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39						chr11	TogoVar
SBF2_chr11_9773668_10299219	10291657	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01099.hp1 HG01109.hp2 others(10): Show HG00639.hp2 HG01099.hp1 HG01109.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG02055.hp1 HG02683.hp1 HG02922.hp2 HG02970.hp1 HG03831.hp2 HG04115.hp1 NA20752.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0005t0001 a0002c0002t0004 a0004c0006t0004	a0001c0001t0001g0211 a0001c0001t0002g0220 a0001c0001t0002g0221 others(10): Show a0001c0001t0001g0211 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0004g0214 a0001c0001t0004g0216 a0001c0001t0004g0219 a0001c0001t0007g0208 a0001c0001t0007g0212 a0001c0005t0001g0209 a0001c0005t0001g0210 a0002c0002t0004g0215 a0004c0006t0004g0213 a0004c0006t0004g0218	13	42	0.3095	-18	c.55+ others(33): Show c.55+2340_55+2357delGTGTGTGTGTGTGTGTGT		SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39						chr11	TogoVar
SBK1_chr16_28287525_28328849	28308450	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	12	0.0833	-18	c.-7- others(33): Show c.-7-8918_-7-8901delTTTTTTTTTTTTTTTTTT		SBK1	ENSG00000188322.8	transcript	ENST00000341901.5	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr16	TogoVar
SBK1_chr16_28287525_28328849	28321182	AACACACA others(11): Show AACACACACACACACACAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(150): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01934.hp2 HG01993.hp2 HG02015.hp1 HG02056.hp1 HG02074.hp1 HG02129.hp2 HG02135.hp2 HG02148.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18970.hp1 NA18977.hp2 NA18978.hp1 NA18982.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp2 NA19080.hp2 NA19082.hp1 NA19084.hp1 NA19088.hp2 NA19089.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0005 others(2): Show a0001c0001 a0001c0002 a0002c0005 a0002c0006 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0055 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0002t0010 a0001c0002t0019 a0001c0002t0045 a0001c0002t0058 a0002c0005t0002 a0002c0006t0002 a0003c0007t0002	a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0001t0001g0247 others(136): Show a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0001t0001g0247 a0001c0001t0002g0009 a0001c0001t0002g0016 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0079 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0095 a0001c0001t0002g0132 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0292 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0306 a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0012 a0001c0001t0003g0021 a0001c0001t0003g0023 a0001c0001t0003g0078 a0001c0001t0003g0096 a0001c0001t0003g0098 a0001c0001t0003g0101 a0001c0001t0003g0104 a0001c0001t0003g0106 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0114 a0001c0001t0003g0118 a0001c0001t0003g0125 a0001c0001t0003g0128 a0001c0001t0003g0130 a0001c0001t0003g0140 a0001c0001t0003g0142 a0001c0001t0003g0146 a0001c0001t0003g0216 a0001c0001t0003g0269 a0001c0001t0007g0001 a0001c0001t0007g0005 a0001c0001t0007g0024 a0001c0001t0007g0100 a0001c0001t0007g0119 a0001c0001t0007g0124 a0001c0001t0007g0129 a0001c0001t0007g0139 a0001c0001t0007g0242 a0001c0001t0008g0160 a0001c0001t0008g0227 a0001c0001t0008g0229 a0001c0001t0008g0231 a0001c0001t0008g0233 a0001c0001t0008g0235 a0001c0001t0008g0236 a0001c0001t0009g0001 a0001c0001t0009g0022 a0001c0001t0009g0094 a0001c0001t0009g0115 a0001c0001t0009g0165 a0001c0001t0009g0287 a0001c0001t0009g0288 a0001c0001t0009g0309 a0001c0001t0010g0001 a0001c0001t0010g0022 a0001c0001t0010g0023 a0001c0001t0010g0107 a0001c0001t0010g0123 a0001c0001t0010g0149 a0001c0001t0011g0001 a0001c0001t0011g0005 a0001c0001t0011g0081 a0001c0001t0011g0083 a0001c0001t0011g0141 a0001c0001t0012g0001 a0001c0001t0012g0012 a0001c0001t0012g0116 a0001c0001t0012g0127 a0001c0001t0012g0145 a0001c0001t0014g0070 a0001c0001t0014g0156 a0001c0001t0014g0161 a0001c0001t0014g0177 a0001c0001t0014g0215 a0001c0001t0014g0249 a0001c0001t0018g0228 a0001c0001t0018g0230 a0001c0001t0018g0232 a0001c0001t0019g0111 a0001c0001t0019g0186 a0001c0001t0019g0297 a0001c0001t0023g0084 a0001c0001t0023g0090 a0001c0001t0023g0105 a0001c0001t0023g0296 a0001c0001t0024g0001 a0001c0001t0024g0112 a0001c0001t0024g0117 a0001c0001t0024g0126 a0001c0001t0026g0293 a0001c0001t0028g0001 a0001c0001t0028g0131 a0001c0001t0029g0262 a0001c0001t0029g0283 a0001c0001t0031g0122 a0001c0001t0043g0282 a0001c0001t0044g0148 a0001c0001t0046g0103 a0001c0001t0047g0150 a0001c0001t0048g0082 a0001c0001t0049g0097 a0001c0001t0050g0113 a0001c0001t0051g0298 a0001c0001t0055g0263 a0001c0001t0059g0001 a0001c0001t0060g0166 a0001c0001t0061g0144 a0001c0002t0010g0138 a0001c0002t0019g0092 a0001c0002t0019g0093 a0001c0002t0045g0120 a0001c0002t0058g0121 a0002c0005t0002g0184 a0002c0005t0002g0275 a0002c0006t0002g0266 a0003c0007t0002g0151	153	170	0.9000	-18	c.30 others(27): Show c.300_*317delACACACACACACACACAC		SBK1	ENSG00000188322.8	transcript	ENST00000341901.5	protein_coding	4/4				300	INFO_REALIGN_3_PRIME	chr16	TogoVar
SBK1_chr16_28287525_28328849	28322917	GCGCTCTC others(11): Show GCGCTCTCTCTCTCCCTCT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp2 HG00597.hp2 HG01109.hp2 others(16): Show HG00280.hp2 HG00597.hp2 HG01109.hp2 HG01261.hp2 HG02129.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03209.hp1 HG03654.hp1 HG03669.hp2 HG03834.hp1 NA18955.hp2 NA18993.hp2 NA18995.hp1 NA19070.hp1 NA19089.hp2 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0018 a0001c0001t0048 others(1): Show a0001c0001t0007 a0001c0001t0018 a0001c0001t0048 a0001c0001t0049	a0001c0001t0007g0001 a0001c0001t0007g0005 a0001c0001t0007g0024 others(13): Show a0001c0001t0007g0001 a0001c0001t0007g0005 a0001c0001t0007g0024 a0001c0001t0007g0100 a0001c0001t0007g0119 a0001c0001t0007g0124 a0001c0001t0007g0129 a0001c0001t0007g0139 a0001c0001t0007g0242 a0001c0001t0018g0018 a0001c0001t0018g0228 a0001c0001t0018g0230 a0001c0001t0018g0232 a0001c0001t0018g0234 a0001c0001t0048g0082 a0001c0001t0049g0097	19	244	0.0779	-18	c.19 others(29): Show c.1998_*2015delGCTCTCTCTCTCCCTCTC		SBK1	ENSG00000188322.8	transcript	ENST00000341901.5	protein_coding	4/4				1998	INFO_REALIGN_3_PRIME	chr16	TogoVar
SBK1_chr16_28287525_28328849	28322919	GCTCTCTC others(11): Show GCTCTCTCTCTCCCTCTCT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01433.hp1 HG02055.hp2 HG02280.hp1 others(11): Show HG01433.hp1 HG02055.hp2 HG02280.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02976.hp2 HG03139.hp1 HG03139.hp2 HG03540.hp1 HG06807.hp2 NA19084.hp1 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0014	a0001c0001t0002g0034 a0001c0001t0004g0017 a0001c0001t0004g0031 others(11): Show a0001c0001t0002g0034 a0001c0001t0004g0017 a0001c0001t0004g0031 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0214 a0001c0001t0004g0238 a0001c0001t0004g0241 a0001c0001t0004g0302 a0001c0001t0004g0305 a0001c0001t0009g0094 a0001c0001t0009g0115 a0001c0001t0009g0309 a0001c0001t0014g0161	14	339	0.0413	-18	c.20 others(29): Show c.2010_*2027delCCTCTCTCTCTCTCTCTC		SBK1	ENSG00000188322.8	transcript	ENST00000341901.5	protein_coding	4/4				2010	INFO_REALIGN_3_PRIME	chr16	TogoVar
SBK2_chr19_55523611_55542133	55533659	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03490.hp2 HG02895.hp1 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0229 a0001c0006t0001g0224 a0001c0001t0001g0229 a0001c0006t0001g0224	2	5	0.4000	-18	c.254 others(35): Show c.254-2332_254-2315delTTTTTTTTTTTTTTTTTT		SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding	2/3						chr19	TogoVar
SBNO1_chr12_123284109_123369847	123311716	CTATCTAT others(11): Show CTATCTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	250	0.0040	-18	c.322 others(35): Show c.3221-605_3221-588delTATATATATATATAGATA		SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	24/31						chr12	TogoVar
SBNO1_chr12_123284109_123369847	123311720	CTATATAT others(11): Show CTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp2 HG00673.hp1 others(34): Show HG00621.hp1 HG00642.hp2 HG00673.hp1 HG01069.hp1 HG02071.hp2 HG02080.hp1 HG02155.hp2 HG02523.hp2 HG02735.hp2 HG03831.hp1 HG04228.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18948.hp2 NA18949.hp2 NA18952.hp2 NA18953.hp1 NA18957.hp1 NA18963.hp1 NA18972.hp2 NA18981.hp2 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp2 NA19012.hp2 NA19055.hp2 NA19063.hp2 NA19064.hp1 NA19067.hp2 NA19082.hp1 NA19084.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0002 a0001c0002t0009 a0001c0002t0021 others(9): Show a0001c0002t0002 a0001c0002t0009 a0001c0002t0021 a0001c0002t0022 a0001c0002t0088 a0001c0002t0089 a0001c0002t0091 a0001c0002t0092 a0001c0002t0093 a0001c0002t0094 a0001c0002t0095 a0001c0011t0002	a0001c0002t0002g0218 a0001c0002t0002g0221 a0001c0002t0002g0222 others(34): Show a0001c0002t0002g0218 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0226 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0233 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0244 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0009g0239 a0001c0002t0009g0240 a0001c0002t0009g0241 a0001c0002t0009g0249 a0001c0002t0009g0250 a0001c0002t0009g0251 a0001c0002t0021g0242 a0001c0002t0021g0248 a0001c0002t0021g0252 a0001c0002t0022g0227 a0001c0002t0022g0254 a0001c0002t0022g0255 a0001c0002t0088g0238 a0001c0002t0089g0245 a0001c0002t0091g0220 a0001c0002t0092g0223 a0001c0002t0093g0243 a0001c0002t0094g0237 a0001c0002t0095g0259 a0001c0011t0002g0231 a0001c0011t0002g0232	37	162	0.2284	-18	c.322 others(35): Show c.3221-609_3221-592delTATATATATATATATATA		SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	24/31						chr12	TogoVar
SBNO1_chr12_123284109_123369847	123362435	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0067 a0001c0003t0067	a0001c0003t0067g0083 a0001c0003t0067g0083	1	17	0.0588	-18	c.-1+ others(33): Show c.-1+2248_-1+2265delTTTTTTTTTTTTTTTTTT		SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	1/31						chr12	TogoVar
SBSPON_chr8_73059543_73098172	73084749	GACACACA others(11): Show GACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0051 a0003c0003t0009g0051	1	70	0.0143	-18	c.215 others(35): Show c.215-3554_215-3537delGTGTGTGTGTGTGTGTGT		SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	1/4						chr8	TogoVar
SCAF11_chr12_45914131_45995574	45972875	TATATAGA others(11): Show TATATAGATATATATATAG	T T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03239.hp2 HG03704.hp1 others(1): Show HG02738.hp2 HG03239.hp2 HG03704.hp1 HG04204.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0028 a0003c0005t0003g0029 a0003c0005t0003g0030 others(1): Show a0003c0005t0003g0028 a0003c0005t0003g0029 a0003c0005t0003g0030 a0003c0005t0003g0031	4	342	0.0117	-18	c.-21 others(35): Show c.-21-8705_-21-8688delCTATATATATATCTATAT		SCAF11	ENSG00000139218.18	transcript	ENST00000369367.8	protein_coding	1/14						chr12	TogoVar
SCAF1_chr19_49637209_49663642	49652104	GCCGCTCC others(11): Show GCCGCTCCCGCTCCCGCTC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03098.hp2 HG03098.hp2	a0014 a0014	a0014c0026 a0014c0026	a0014c0026t0001 a0014c0026t0001	a0014c0026t0001g0001 a0014c0026t0001g0001	1	155	0.0065	-18	c.172 others(27): Show c.1729_1746delCGCTCCCGCTCCCGCTCC	p.Arg others(13): Show p.Arg577_Ser582del	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding	7/11	1769/4222	1729/3939	577/1312		INFO_REALIGN_3_PRIME	chr19	TogoVar
SCAF1_chr19_49637209_49663642	49659984	TACACACA others(11): Show TACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0004 a0002c0001t0001g0004	1	150	0.0067	-18	c.15 others(29): Show c.1586_*1603delACACACACACACACACAC		SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding					1343		chr19	TogoVar
SCAF4_chr21_31666000_31737118	31735263	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00544.hp2 others(81): Show HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG01167.hp2 HG01175.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01928.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02135.hp1 HG02155.hp1 HG02257.hp1 HG02273.hp2 HG02293.hp1 HG02615.hp1 HG02723.hp1 HG02735.hp2 HG02886.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03139.hp1 HG03195.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 NA18522.hp2 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18946.hp2 NA18947.hp1 NA18951.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp2 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18989.hp1 NA18991.hp1 NA18992.hp1 NA18993.hp2 NA18995.hp2 NA18998.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19007.hp2 NA19009.hp2 NA19057.hp2 NA19064.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19076.hp2 NA19078.hp2 NA19080.hp2 NA19083.hp1 NA19086.hp1 NA19090.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0003c0014 others(1): Show a0001c0001 a0001c0002 a0003c0014 a0006c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0003c0014t0001 a0006c0012t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0018 others(80): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0002g0056 a0001c0001t0004g0009 a0001c0001t0004g0039 a0001c0002t0001g0152 a0003c0014t0001g0114 a0006c0012t0001g0048	84	98	0.8571	-18	c.-35 others(29): Show c.-3589_-3572delTTTTTTTTTTTTTTTTTT		SCAF4	ENSG00000156304.15	transcript	ENST00000286835.12	protein_coding					3146		chr21	TogoVar
SCAF8_chr6_154728416_154839221	154770388	ACTCTCTC others(11): Show ACTCTCTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02922.hp2 HG02486.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0239 a0001c0001t0001g0214 a0001c0001t0001g0239	2	50	0.0400	-18	c.31- others(33): Show c.31-3582_31-3565delCTCTCTCTCTCTCTCTCT		SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAF8_chr6_154728416_154839221	154794772	GTGTGGGG others(11): Show GTGTGGGGGGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03098.hp1 NA18906.hp1 HG02109.hp1 HG03098.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0237 a0001c0001t0001g0247 a0001c0001t0001g0207 a0001c0001t0001g0237 a0001c0001t0001g0247	3	241	0.0124	-18	c.476 others(33): Show c.476-236_476-219delTGTGGGGGGTGTGTGTGT		SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	5/19						chr6	TogoVar
SCAF8_chr6_154728416_154839221	154794778	GGGGTGTG others(11): Show GGGGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03041.hp1 HG03195.hp2 others(3): Show HG02630.hp2 HG03041.hp1 HG03195.hp2 HG03453.hp1 NA19043.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0011 a0003c0003 a0001c0001 a0001c0011 a0003c0003	a0001c0001t0001 a0001c0011t0001 a0003c0003t0002 a0001c0001t0001 a0001c0011t0001 a0003c0003t0002	a0001c0001t0001g0193 a0001c0001t0001g0210 a0001c0011t0001g0208 others(3): Show a0001c0001t0001g0193 a0001c0001t0001g0210 a0001c0011t0001g0208 a0003c0003t0002g0272 a0003c0003t0002g0273 a0003c0003t0002g0274	6	154	0.0390	-18	c.476 others(33): Show c.476-229_476-212delGGTGTGTGTGTGTGTGTG		SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	5/19					INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAF8_chr6_154728416_154839221	154796353	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	244	0.0041	-18	c.606 others(35): Show c.606+1236_606+1253delCTCTCTCTCTCTCTCTCT		SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	6/19					INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAF8_chr6_154728416_154839221	154831703	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	24	0.0417	-18	c.236 others(35): Show c.2360-214_2360-197delAAAAAAAAAAAAAAAAAA		SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	19/19					INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAI_chr9_124937608_125148528	124963956	AAGGGGAG others(11): Show AAGGGGAGGCAGGAGAGAC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02280.hp1 HG02572.hp1 others(1): Show HG01109.hp2 HG02280.hp1 HG02572.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 others(1): Show a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040	a0001c0001t0036g0139 a0001c0001t0037g0136 a0001c0001t0038g0137 others(1): Show a0001c0001t0036g0139 a0001c0001t0037g0136 a0001c0001t0038g0137 a0001c0001t0040g0138	4	304	0.0132	-18	c.167 others(37): Show c.1674+7396_1674+7413delGTCTCTCCTGCCTCCCCT		SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	17/17						chr9	TogoVar
SCAI_chr9_124937608_125148528	125004734	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02809.hp2 HG03471.hp2 others(3): Show HG02074.hp1 HG02809.hp2 HG03471.hp2 NA18939.hp1 NA18979.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 a0001c0001t0051	a0001c0001t0002g0008 a0001c0001t0002g0099 a0001c0001t0002g0106 others(3): Show a0001c0001t0002g0008 a0001c0001t0002g0099 a0001c0001t0002g0106 a0001c0001t0009g0046 a0001c0001t0011g0296 a0001c0001t0051g0105	6	210	0.0286	-18	c.862 others(35): Show c.862-1182_862-1165delATATATATATATATATAT		SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	9/17						chr9	TogoVar
SCAI_chr9_124937608_125148528	125004763	ATATATAT others(11): Show ATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02300.hp1 HG02630.hp2 others(2): Show HG02055.hp2 HG02300.hp1 HG02630.hp2 HG02965.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0026 a0001c0001t0057 a0001c0001t0009 a0001c0001t0026 a0001c0001t0057	a0001c0001t0009g0097 a0001c0001t0009g0100 a0001c0001t0009g0111 others(2): Show a0001c0001t0009g0097 a0001c0001t0009g0100 a0001c0001t0009g0111 a0001c0001t0026g0101 a0001c0001t0057g0109	5	300	0.0167	-18	c.862 others(35): Show c.862-1211_862-1194delAATATATATATATATATA		SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	9/17						chr9	TogoVar
SCAI_chr9_124937608_125148528	125004765	ATATATAT others(11): Show ATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0096 a0001c0001t0026g0096	1	304	0.0033	-18	c.862 others(35): Show c.862-1213_862-1196delAAAATATATATATATATA		SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	9/17						chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78423012	GCGCGCAC others(11): Show GCGCGCACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02809.hp1 HG03471.hp1 others(1): Show HG00733.hp1 HG02809.hp1 HG03471.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0031 a0001c0001t0005 a0001c0001t0031	a0001c0001t0005g0149 a0001c0001t0005g0260 a0001c0001t0005g0261 others(1): Show a0001c0001t0005g0149 a0001c0001t0005g0260 a0001c0001t0005g0261 a0001c0001t0031g0263	4	125	0.0320	-18	c.632 others(35): Show c.632+1054_632+1071delGCGCACACACACACACAC		SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460809	CTTCCTTC others(11): Show CTTCCTTCCTTCCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02451.hp1 NA20752.hp1 HG01934.hp1 HG02451.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0092 a0001c0001t0002g0120 a0001c0001t0011g0161 a0001c0001t0002g0092 a0001c0001t0002g0120 a0001c0001t0011g0161	3	329	0.0091	-18	c.852 others(35): Show c.852+1448_852+1465delTTCCTTCCTTCCTTTCTT		SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8						chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78469918	AAAAAAAA others(11): Show AAAAAAAAAAAAAAACAAC	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01070.hp1 HG01109.hp2 others(24): Show HG00673.hp2 HG01070.hp1 HG01109.hp2 HG01175.hp1 HG01978.hp2 HG02027.hp1 HG02071.hp1 HG02080.hp2 HG02723.hp2 HG02922.hp2 HG03669.hp1 NA18942.hp1 NA18964.hp2 NA18968.hp2 NA18975.hp2 NA18977.hp2 NA18983.hp2 NA18988.hp1 NA18995.hp2 NA18998.hp1 NA19005.hp1 NA19009.hp1 NA19030.hp1 NA19043.hp1 NA19070.hp2 NA19084.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0008 a0001c0001t0019 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0019 a0001c0001t0027 a0003c0004t0001	a0001c0001t0001g0178 a0001c0001t0001g0188 a0001c0001t0001g0190 others(24): Show a0001c0001t0001g0178 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0008g0179 a0001c0001t0019g0211 a0001c0001t0019g0215 a0001c0001t0027g0176 a0003c0004t0001g0005	27	323	0.0836	-18	c.853 others(35): Show c.853-5583_853-5566delAAAAAAAAAAAACAACAA		SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP2_chr15_74838730_74878365	74862853	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03225.hp2 HG03453.hp1 HG02976.hp2 HG03225.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0008 a0001c0001t0009	a0001c0001t0008g0076 a0001c0001t0009g0260 a0001c0001t0009g0261 a0001c0001t0008g0076 a0001c0001t0009g0260 a0001c0001t0009g0261	3	143	0.0210	-18	c.58- others(33): Show c.58-8222_58-8205delGTGTGTGTGTGTGTGTGT		SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding	1/8						chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874649	AAAAAAAA others(11): Show AAAAAAAAAAAAAATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 NA18522.hp2 HG02145.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0018 a0001c0001t0007 a0001c0001t0018	a0001c0001t0007g0189 a0001c0001t0018g0197 a0001c0001t0007g0189 a0001c0001t0018g0197	2	378	0.0053	-18	c.-14 others(29): Show c.-1412_-1395delATATATTTTTTTTTTTTT		SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding					1285		chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874651	AAAAAAAA others(11): Show AAAAAAAAAAAATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0216 a0001c0001t0007g0216	1	368	0.0027	-18	c.-14 others(29): Show c.-1414_-1397delATATATATTTTTTTTTTT		SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding					1287		chr15	TogoVar
SCAMP4_chr19_1900399_1931013	1904828	GTGGAGGT others(11): Show GTGGAGGTTGCAGTGAGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(120): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01934.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp2 HG02738.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp2 NA18949.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18965.hp2 NA18966.hp1 NA18971.hp1 NA18973.hp1 NA18977.hp1 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18987.hp1 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18997.hp2 NA18998.hp2 NA19004.hp1 NA19010.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19058.hp2 NA19067.hp1 NA19079.hp2 NA19082.hp1 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0002c0002 a0003c0005 others(1): Show a0001c0001 a0002c0002 a0003c0005 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0023 a0001c0001t0026 a0001c0001t0028 a0002c0002t0002 a0003c0005t0001 a0003c0005t0002 a0008c0009t0002	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0030 others(103): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0224 a0001c0001t0002g0230 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0003g0030 a0001c0001t0003g0200 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0276 a0001c0001t0011g0257 a0001c0001t0023g0238 a0001c0001t0026g0212 a0001c0001t0028g0274 a0002c0002t0002g0005 a0002c0002t0002g0025 a0003c0005t0001g0004 a0003c0005t0002g0001 a0008c0009t0002g0253	123	440	0.2795	-18	c.-65 others(27): Show c.-652_-635delTGGAGGTTGCAGTGAGCC		SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding					570		chr19	TogoVar
SCAMP4_chr19_1900399_1931013	1919134	GCAGCGCC others(11): Show GCAGCGCCCGCGTCCTCGC	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0015	a0001c0004t0015g0155 a0001c0004t0015g0155	1	440	0.0023	-18	c.395 others(33): Show c.395+167_395+184delGCCCGCGTCCTCGCCAGC		SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
SCAPER_chr15_76342904_76910340	76495989	GAGAGACA others(11): Show GAGAGACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG00639.hp1 others(69): Show HG00140.hp2 HG00544.hp2 HG00639.hp1 HG01074.hp2 HG01106.hp2 HG01169.hp1 HG01175.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01884.hp1 HG01891.hp2 HG01943.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp2 HG02135.hp1 HG02300.hp1 HG02559.hp1 HG02683.hp1 HG02735.hp2 HG02818.hp1 HG02965.hp2 HG03017.hp2 HG03195.hp1 HG03239.hp1 HG03486.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18522.hp2 NA18942.hp2 NA18952.hp1 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18973.hp1 NA18977.hp1 NA18984.hp2 NA18990.hp1 NA18998.hp2 NA19005.hp2 NA19010.hp2 NA19012.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19063.hp2 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19083.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0002 a0003 a0011 a0002 a0003 a0011	a0002c0002 a0002c0003 a0002c0011 others(6): Show a0002c0002 a0002c0003 a0002c0011 a0002c0015 a0002c0022 a0002c0023 a0002c0025 a0003c0006 a0011c0024	a0002c0002t0002 a0002c0003t0002 a0002c0003t0007 others(7): Show a0002c0002t0002 a0002c0003t0002 a0002c0003t0007 a0002c0011t0002 a0002c0015t0002 a0002c0022t0002 a0002c0023t0002 a0002c0025t0002 a0003c0006t0001 a0011c0024t0002	a0002c0002t0002g0190 a0002c0002t0002g0194 a0002c0002t0002g0219 others(69): Show a0002c0002t0002g0190 a0002c0002t0002g0194 a0002c0002t0002g0219 a0002c0002t0002g0221 a0002c0002t0002g0224 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0229 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0250 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0261 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0266 a0002c0002t0002g0268 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0275 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0286 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0293 a0002c0002t0002g0295 a0002c0002t0002g0297 a0002c0002t0002g0299 a0002c0002t0002g0309 a0002c0003t0002g0186 a0002c0003t0007g0249 a0002c0011t0002g0225 a0002c0011t0002g0274 a0002c0011t0002g0285 a0002c0015t0002g0220 a0002c0015t0002g0276 a0002c0022t0002g0290 a0002c0023t0002g0228 a0002c0025t0002g0262 a0003c0006t0001g0125 a0003c0006t0001g0134 a0003c0006t0001g0139 a0003c0006t0001g0145 a0011c0024t0002g0284	72	257	0.2802	-18	c.295 others(37): Show c.2954+8852_2954+8869delGTGTGTGTGTGTGTCTCT		SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	24/31						chr15	TogoVar
SCAPER_chr15_76342904_76910340	76637742	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA19012.hp1 NA19043.hp2 HG01243.hp2 NA19012.hp1 NA19043.hp2	a0002 a0008 a0010 a0002 a0008 a0010	a0002c0002 a0008c0021 a0010c0019 a0002c0002 a0008c0021 a0010c0019	a0002c0002t0002 a0008c0021t0001 a0010c0019t0001 a0002c0002t0002 a0008c0021t0001 a0010c0019t0001	a0002c0002t0002g0277 a0008c0021t0001g0197 a0010c0019t0001g0127 a0002c0002t0002g0277 a0008c0021t0001g0197 a0010c0019t0001g0127	3	51	0.0588	-18	c.264 others(39): Show c.2646-15931_2646-15914delCACACACACACACACACA		SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31						chr15	TogoVar
SCAPER_chr15_76342904_76910340	76667625	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp1 HG00733.hp2 others(42): Show HG00280.hp2 HG00621.hp1 HG00733.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG02083.hp2 HG02145.hp1 HG02258.hp1 HG02486.hp1 HG02572.hp1 HG02630.hp2 HG02717.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03704.hp1 HG04184.hp2 NA18522.hp1 NA18906.hp1 NA18945.hp1 NA18946.hp1 NA18948.hp2 NA18957.hp2 NA18963.hp1 NA18969.hp1 NA18972.hp1 NA19007.hp2 NA19009.hp2 NA19043.hp1 NA19063.hp1 NA19064.hp1 NA19091.hp2 NA19240.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0006 a0007	a0001c0001 a0003c0006 a0005c0009 others(2): Show a0001c0001 a0003c0006 a0005c0009 a0006c0013 a0007c0020	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0003c0006t0001 a0005c0009t0001 a0006c0013t0003 a0007c0020t0003	a0001c0001t0001g0138 a0001c0001t0001g0160 a0001c0001t0003g0112 others(42): Show a0001c0001t0001g0138 a0001c0001t0001g0160 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0120 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0177 a0001c0001t0003g0187 a0001c0001t0004g0017 a0001c0001t0004g0111 a0001c0001t0004g0122 a0001c0001t0004g0126 a0001c0001t0004g0133 a0001c0001t0004g0135 a0001c0001t0004g0142 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0151 a0001c0001t0004g0152 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0158 a0001c0001t0004g0159 a0003c0006t0001g0125 a0003c0006t0001g0134 a0003c0006t0001g0139 a0003c0006t0001g0140 a0005c0009t0001g0170 a0005c0009t0001g0171 a0005c0009t0001g0172 a0006c0013t0003g0123 a0006c0013t0003g0124 a0007c0020t0003g0162	45	82	0.5488	-18	c.250 others(37): Show c.2509-1854_2509-1837delTTTTTTTTTTTTTTTTTT		SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	20/31						chr15	TogoVar
SCAP_chr3_47408681_47480941	47412512	AGCTGCAC others(11): Show AGCTGCACCTCAGGTTCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0001 a0011c0017t0001	a0011c0017t0001g0260 a0011c0017t0001g0260	1	302	0.0033	-18	c.13 others(29): Show c.1324_*1341delCAGAACCTGAGGTGCAGC		SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding					1168		chr3	TogoVar
SCAP_chr3_47408681_47480941	47412899	CTTCCTCC others(11): Show CTTCCTCCCCGCCCCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 NA19084.hp2 HG02132.hp1 NA19084.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0016 a0001c0001 a0013c0016	a0001c0001t0001 a0013c0016t0001 a0001c0001t0001 a0013c0016t0001	a0001c0001t0001g0227 a0013c0016t0001g0246 a0001c0001t0001g0227 a0013c0016t0001g0246	2	301	0.0066	-18	c.93 others(27): Show c.937_*954delAGGGGGGGCGGGGAGGAA		SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding					781		chr3	TogoVar
SCARA5_chr8_27864883_27997673	27865577	TTATATAT others(11): Show TTATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01168.hp2 HG01255.hp2 others(26): Show HG01071.hp1 HG01168.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01884.hp2 HG02080.hp1 HG02280.hp2 HG02559.hp2 HG02622.hp2 HG02922.hp2 HG02965.hp1 HG03209.hp2 HG03486.hp2 HG03669.hp2 HG04115.hp2 HG04184.hp1 NA18522.hp1 NA18962.hp2 NA18973.hp2 NA18990.hp1 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19062.hp1 NA19065.hp1 NA19066.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0018 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0059 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0003t0001 a0001c0003t0002 a0001c0005t0009 a0001c0005t0020 a0001c0007t0002 a0001c0007t0004 a0001c0007t0014 a0001c0008t0004 a0001c0018t0007 a0002c0006t0001 a0002c0006t0002	a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0233 others(26): Show a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0233 a0001c0001t0001g0241 a0001c0001t0002g0045 a0001c0001t0002g0070 a0001c0001t0008g0251 a0001c0001t0010g0080 a0001c0001t0059g0181 a0001c0002t0001g0143 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0219 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0002g0027 a0001c0002t0005g0183 a0001c0003t0001g0255 a0001c0003t0002g0013 a0001c0005t0009g0092 a0001c0005t0020g0012 a0001c0007t0002g0098 a0001c0007t0004g0158 a0001c0007t0014g0135 a0001c0008t0004g0227 a0001c0018t0007g0028 a0001c0018t0007g0029 a0002c0006t0001g0152 a0002c0006t0002g0104	29	38	0.7632	-18	c.63 others(29): Show c.6339_*6356delTATATATATATATATATA		SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding					4305		chr8	TogoVar
SCARA5_chr8_27864883_27997673	27865781	ATATATAT others(11): Show ATATATATTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0064 a0001c0007t0064	a0001c0007t0064g0313 a0001c0007t0064g0313	1	306	0.0033	-18	c.61 others(29): Show c.6135_*6152delAAAAAAAAAAAATATATA		SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding					4101		chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918643	GGAGGAGG others(11): Show GGAGGAGGAAAAGGAAGAT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00408.hp1 others(133): Show HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01934.hp1 HG01975.hp2 HG02015.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18939.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18994.hp1 NA18998.hp1 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19030.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19077.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0018 a0001c0024 a0001c0025 a0002c0010 a0002c0013 a0002c0015 a0002c0017 a0002c0023 a0003c0011 a0003c0014 a0010c0034	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(55): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0030 a0001c0001t0032 a0001c0001t0035 a0001c0001t0041 a0001c0001t0047 a0001c0001t0058 a0001c0001t0059 a0001c0002t0005 a0001c0002t0007 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0009 a0001c0003t0010 a0001c0003t0012 a0001c0003t0015 a0001c0003t0023 a0001c0003t0026 a0001c0004t0017 a0001c0005t0004 a0001c0005t0008 a0001c0005t0009 a0001c0005t0013 a0001c0005t0020 a0001c0005t0038 a0001c0005t0045 a0001c0005t0063 a0001c0007t0001 a0001c0007t0010 a0001c0009t0003 a0001c0009t0011 a0001c0009t0017 a0001c0009t0037 a0001c0018t0007 a0001c0024t0009 a0001c0025t0006 a0002c0010t0016 a0002c0013t0003 a0002c0015t0001 a0002c0017t0001 a0002c0023t0019 a0003c0011t0028 a0003c0011t0034 a0003c0011t0049 a0003c0014t0029 a0010c0034t0008	a0001c0001t0001g0001 a0001c0001t0001g0146 a0001c0001t0001g0148 others(132): Show a0001c0001t0001g0001 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0162 a0001c0001t0001g0170 a0001c0001t0001g0206 a0001c0001t0001g0233 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0265 a0001c0001t0001g0278 a0001c0001t0002g0004 a0001c0001t0002g0045 a0001c0001t0002g0052 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0083 a0001c0001t0002g0088 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0005g0174 a0001c0001t0005g0202 a0001c0001t0005g0216 a0001c0001t0005g0224 a0001c0001t0005g0249 a0001c0001t0007g0056 a0001c0001t0007g0091 a0001c0001t0007g0095 a0001c0001t0008g0140 a0001c0001t0008g0171 a0001c0001t0008g0251 a0001c0001t0008g0259 a0001c0001t0008g0293 a0001c0001t0010g0043 a0001c0001t0010g0077 a0001c0001t0010g0080 a0001c0001t0010g0110 a0001c0001t0013g0309 a0001c0001t0014g0149 a0001c0001t0014g0207 a0001c0001t0018g0185 a0001c0001t0021g0094 a0001c0001t0024g0131 a0001c0001t0025g0188 a0001c0001t0030g0057 a0001c0001t0032g0115 a0001c0001t0032g0119 a0001c0001t0035g0002 a0001c0001t0041g0078 a0001c0001t0047g0101 a0001c0001t0058g0142 a0001c0001t0059g0181 a0001c0002t0005g0210 a0001c0002t0005g0211 a0001c0002t0007g0090 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0261 a0001c0003t0002g0013 a0001c0003t0004g0172 a0001c0003t0009g0014 a0001c0003t0010g0112 a0001c0003t0010g0113 a0001c0003t0012g0167 a0001c0003t0012g0182 a0001c0003t0012g0253 a0001c0003t0015g0042 a0001c0003t0015g0048 a0001c0003t0015g0049 a0001c0003t0015g0085 a0001c0003t0023g0117 a0001c0003t0026g0129 a0001c0003t0026g0130 a0001c0004t0017g0137 a0001c0004t0017g0144 a0001c0005t0004g0157 a0001c0005t0004g0169 a0001c0005t0004g0225 a0001c0005t0004g0242 a0001c0005t0004g0243 a0001c0005t0004g0244 a0001c0005t0004g0262 a0001c0005t0004g0295 a0001c0005t0008g0234 a0001c0005t0008g0264 a0001c0005t0009g0092 a0001c0005t0013g0132 a0001c0005t0013g0154 a0001c0005t0020g0012 a0001c0005t0038g0082 a0001c0005t0045g0050 a0001c0005t0063g0311 a0001c0007t0001g0118 a0001c0007t0010g0017 a0001c0009t0003g0125 a0001c0009t0003g0151 a0001c0009t0003g0239 a0001c0009t0003g0286 a0001c0009t0003g0291 a0001c0009t0003g0292 a0001c0009t0003g0297 a0001c0009t0011g0120 a0001c0009t0011g0123 a0001c0009t0011g0184 a0001c0009t0011g0192 a0001c0009t0017g0141 a0001c0009t0037g0069 a0001c0018t0007g0028 a0001c0018t0007g0029 a0001c0018t0007g0087 a0001c0024t0009g0081 a0001c0025t0006g0086 a0002c0010t0016g0036 a0002c0013t0003g0272 a0002c0013t0003g0300 a0002c0013t0003g0301 a0002c0015t0001g0279 a0002c0015t0001g0296 a0002c0017t0001g0302 a0002c0023t0019g0011 a0003c0011t0028g0307 a0003c0011t0028g0308 a0003c0011t0028g0310 a0003c0011t0034g0134 a0003c0011t0034g0139 a0003c0011t0049g0015 a0003c0014t0029g0018 a0010c0034t0008g0305	136	143	0.9510	-18	c.916 others(35): Show c.916+2910_916+2927delATCTTCCTTTTCCTCCTC		SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8						chr8	TogoVar
SCARB1_chr12_124771856_124868864	124783661	GGAGGCTG others(11): Show GGAGGCTGAGGCTGAGGCT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp2 HG02280.hp2 others(9): Show HG01109.hp1 HG02145.hp2 HG02280.hp2 HG02486.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp2 HG02922.hp1 HG03209.hp2 HG03471.hp2 HG03540.hp1 NA19043.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0005 a0007c0014 a0001c0001 a0001c0005 a0007c0014	a0001c0001t0004 a0001c0001t0006 a0001c0005t0004 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0005t0004 a0007c0014t0004	a0001c0001t0004g0026 a0001c0001t0004g0042 a0001c0001t0004g0124 others(9): Show a0001c0001t0004g0026 a0001c0001t0004g0042 a0001c0001t0004g0124 a0001c0001t0004g0155 a0001c0001t0004g0324 a0001c0001t0004g0329 a0001c0001t0006g0225 a0001c0005t0004g0346 a0001c0005t0004g0347 a0001c0005t0004g0348 a0001c0005t0004g0353 a0007c0014t0004g0033	12	350	0.0343	-18	c.140 others(35): Show c.1402-868_1402-851delAGCCTCAGCCTCAGCCTC		SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	11/12						chr12	TogoVar

Search by Variant

Search

Search Results