Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPNS3_chr17_4428940_4493204	4468721	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(53): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00738.hp1 HG00741.hp1 HG01081.hp2 HG01123.hp2 HG01192.hp1 HG01515.hp1 HG01516.hp1 HG01928.hp1 HG02015.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02165.hp2 HG02572.hp2 HG02630.hp2 HG02717.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03195.hp2 HG03491.hp2 HG03688.hp1 HG03688.hp2 HG03927.hp1 HG03927.hp2 HG04204.hp1 HG04204.hp2 NA18939.hp2 NA18943.hp1 NA18952.hp2 NA18955.hp2 NA18957.hp2 NA18977.hp2 NA19000.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19063.hp2 NA19067.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19087.hp2 NA19088.hp1 NA20300.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0007 a0008 a0010 a0012 a0013	a0001c0001 a0001c0003 a0001c0004 others(21): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0012 a0001c0013 a0001c0014 a0001c0024 a0001c0028 a0001c0037 a0002c0002 a0002c0011 a0002c0038 a0002c0040 a0003c0005 a0003c0008 a0003c0021 a0007c0025 a0008c0019 a0010c0052 a0012c0027 a0013c0046	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0006t0002 a0001c0007t0003 a0001c0009t0004 a0001c0012t0001 a0001c0013t0001 a0001c0014t0001 a0001c0014t0002 a0001c0024t0003 a0001c0028t0003 a0001c0037t0003 a0002c0002t0001 a0002c0011t0003 a0002c0038t0002 a0002c0040t0001 a0003c0005t0001 a0003c0008t0003 a0003c0021t0003 a0007c0025t0002 a0008c0019t0001 a0010c0052t0001 a0012c0027t0001 a0013c0046t0001	a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0135 others(53): Show a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0135 a0001c0001t0001g0156 a0001c0001t0001g0170 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0002g0137 a0001c0001t0002g0153 a0001c0003t0001g0134 a0001c0003t0001g0241 a0001c0003t0001g0320 a0001c0003t0001g0351 a0001c0003t0002g0140 a0001c0004t0001g0054 a0001c0004t0001g0070 a0001c0004t0001g0074 a0001c0004t0001g0093 a0001c0006t0002g0052 a0001c0007t0003g0163 a0001c0009t0004g0061 a0001c0012t0001g0045 a0001c0013t0001g0115 a0001c0014t0001g0018 a0001c0014t0002g0007 a0001c0014t0002g0017 a0001c0024t0003g0057 a0001c0024t0003g0062 a0001c0028t0003g0175 a0001c0037t0003g0146 a0002c0002t0001g0144 a0002c0002t0001g0247 a0002c0002t0001g0282 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0290 a0002c0011t0003g0254 a0002c0011t0003g0285 a0002c0011t0003g0309 a0002c0038t0002g0323 a0002c0040t0001g0356 a0003c0005t0001g0116 a0003c0005t0001g0236 a0003c0008t0003g0102 a0003c0021t0003g0002 a0007c0025t0002g0049 a0007c0025t0002g0050 a0008c0019t0001g0338 a0010c0052t0001g0060 a0012c0027t0001g0234 a0013c0046t0001g0179	56	362	0.1547	20	c.111 others(39): Show c.1114-9829_1114-9810dupTTCTTTCTTTCTTTCTTTCT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPN_chr16_29658247_29675876	29666552	A A	ACACACAC others(13): Show ACACACACACACACACGCGCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG02071.hp1 others(2): Show HG00423.hp2 HG00544.hp2 HG02071.hp1 HG02074.hp2 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0060 a0001c0001t0061 others(1): Show a0001c0001t0035 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062	a0001c0001t0035g0001 a0001c0001t0060g0001 a0001c0001t0061g0001 others(1): Show a0001c0001t0035g0001 a0001c0001t0060g0001 a0001c0001t0061g0001 a0001c0001t0062g0001	5	394	0.0127	20	c.16 others(31): Show c.1622_*1623insACACACACACACACGCGCGC	SPN	ENSG00000197471.12	transcript	ENST00000652691.1	protein_coding	2/2	1623	INFO_REALIGN_3_PRIME	chr16	TogoVar
SPN_chr16_29658247_29675876	29666552	A A	ACACACAC others(13): Show ACACACACACACACGCGCGCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19009.hp1 NA19077.hp1 NA19009.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0091 a0001c0001t0063 a0001c0001t0091	a0001c0001t0063g0001 a0001c0001t0091g0001 a0001c0001t0063g0001 a0001c0001t0091g0001	2	394	0.0051	20	c.16 others(31): Show c.1622_*1623insACACACACACACGCGCGCGC	SPN	ENSG00000197471.12	transcript	ENST00000652691.1	protein_coding	2/2	1623	INFO_REALIGN_3_PRIME	chr16	TogoVar
SPN_chr16_29658247_29675876	29666552	A A	ACACACAC others(13): Show ACACACACACACGCGCGCGCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03942.hp1 NA19066.hp1 HG03942.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0094 a0001c0001t0064 a0001c0001t0094	a0001c0001t0064g0001 a0001c0001t0094g0001 a0001c0001t0064g0001 a0001c0001t0094g0001	2	394	0.0051	20	c.16 others(31): Show c.1622_*1623insACACACACACGCGCGCGCGC	SPN	ENSG00000197471.12	transcript	ENST00000652691.1	protein_coding	2/2	1623	INFO_REALIGN_3_PRIME	chr16	TogoVar
SPN_chr16_29658247_29675876	29666552	A A	ACACACAC others(13): Show ACACACACACGCGCGCGCGCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0001 a0001c0001t0097g0001	1	394	0.0025	20	c.16 others(31): Show c.1622_*1623insACACACACGCGCGCGCGCGC	SPN	ENSG00000197471.12	transcript	ENST00000652691.1	protein_coding	2/2	1623	INFO_REALIGN_3_PRIME	chr16	TogoVar
SPN_chr16_29658247_29675876	29668715	T T	TGGGATTA others(13): Show TGGGATTATAGGTGTGAGCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp2 others(171): Show HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01123.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp2 HG02615.hp1 HG02647.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02922.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18959.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18990.hp2 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19063.hp2 NA19068.hp2 NA19074.hp2 NA19075.hp1 NA19076.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20905.hp1	a0001 a0003 a0005 others(4): Show a0001 a0003 a0005 a0007 a0008 a0009 a0010	a0001c0001 a0001c0002 a0001c0009 others(6): Show a0001c0001 a0001c0002 a0001c0009 a0003c0004 a0005c0017 a0007c0011 a0008c0010 a0009c0018 a0010c0013	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(77): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0016 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0037 a0001c0001t0039 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0058 a0001c0001t0070 a0001c0001t0071 a0001c0001t0077 a0001c0001t0078 a0001c0001t0085 a0001c0001t0093 a0001c0001t0095 a0001c0001t0096 a0001c0001t0100 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0002t0001 a0001c0002t0004 a0001c0002t0008 a0001c0002t0009 a0001c0002t0015 a0001c0002t0018 a0001c0002t0024 a0001c0002t0036 a0001c0002t0037 a0001c0002t0038 a0001c0002t0040 a0001c0002t0059 a0001c0002t0065 a0001c0002t0067 a0001c0002t0068 a0001c0002t0069 a0001c0002t0073 a0001c0002t0076 a0001c0002t0079 a0001c0002t0080 a0001c0002t0082 a0001c0002t0083 a0001c0002t0084 a0001c0002t0168 a0001c0002t0170 a0001c0002t0172 a0001c0009t0010 a0003c0004t0008 a0003c0004t0018 a0003c0004t0040 a0003c0004t0072 a0003c0004t0075 a0003c0004t0081 a0005c0017t0008 a0007c0011t0074 a0008c0010t0015 a0009c0018t0009 a0010c0013t0046	a0001c0001t0001g0002 a0001c0001t0004g0001 a0001c0001t0004g0002 others(79): Show a0001c0001t0001g0002 a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0005g0001 a0001c0001t0008g0001 a0001c0001t0008g0002 a0001c0001t0010g0001 a0001c0001t0016g0001 a0001c0001t0019g0001 a0001c0001t0021g0001 a0001c0001t0024g0002 a0001c0001t0025g0002 a0001c0001t0027g0001 a0001c0001t0037g0001 a0001c0001t0039g0001 a0001c0001t0042g0001 a0001c0001t0043g0001 a0001c0001t0044g0001 a0001c0001t0045g0002 a0001c0001t0046g0001 a0001c0001t0047g0002 a0001c0001t0058g0001 a0001c0001t0070g0002 a0001c0001t0071g0002 a0001c0001t0077g0002 a0001c0001t0078g0002 a0001c0001t0085g0002 a0001c0001t0093g0001 a0001c0001t0095g0001 a0001c0001t0096g0001 a0001c0001t0100g0001 a0001c0001t0103g0001 a0001c0001t0104g0001 a0001c0001t0105g0001 a0001c0001t0106g0001 a0001c0001t0107g0001 a0001c0001t0108g0001 a0001c0001t0109g0001 a0001c0001t0110g0001 a0001c0001t0111g0001 a0001c0001t0112g0001 a0001c0001t0124g0001 a0001c0001t0125g0001 a0001c0001t0126g0001 a0001c0002t0001g0001 a0001c0002t0004g0001 a0001c0002t0008g0001 a0001c0002t0009g0001 a0001c0002t0015g0001 a0001c0002t0018g0001 a0001c0002t0024g0001 a0001c0002t0036g0001 a0001c0002t0037g0001 a0001c0002t0038g0001 a0001c0002t0040g0001 a0001c0002t0059g0001 a0001c0002t0065g0001 a0001c0002t0067g0001 a0001c0002t0068g0001 a0001c0002t0069g0001 a0001c0002t0073g0001 a0001c0002t0076g0001 a0001c0002t0079g0001 a0001c0002t0080g0001 a0001c0002t0082g0001 a0001c0002t0083g0001 a0001c0002t0084g0001 a0001c0002t0168g0001 a0001c0002t0170g0001 a0001c0002t0172g0001 a0001c0009t0010g0001 a0003c0004t0008g0001 a0003c0004t0018g0001 a0003c0004t0040g0001 a0003c0004t0072g0001 a0003c0004t0075g0001 a0003c0004t0081g0001 a0005c0017t0008g0001 a0007c0011t0074g0001 a0008c0010t0015g0001 a0009c0018t0009g0001 a0010c0013t0046g0001	174	394	0.4416	20	c.37 others(31): Show c.3785_*3804dupGGGATTATAGGTGTGAGCCA	SPN	ENSG00000197471.12	transcript	ENST00000652691.1	protein_coding	2/2	3805	INFO_REALIGN_3_PRIME	chr16	TogoVar
SPOCD1_chr1_31785422_31821022	31812562	T T	TGGTTCTA others(13): Show TGGTTCTATTTTACTAATTGG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0143 a0003c0003t0001g0143	1	260	0.0039	20	c.138 others(39): Show c.1383+1369_1383+1388dupCCAATTAGTAAAATAGAACC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(13): Show ATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG03139.hp2 HG01346.hp2 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0006 a0002c0002t0001g0226 a0001c0001t0001g0006 a0002c0002t0001g0226	2	260	0.0077	20	c.-12 others(31): Show c.-1200_-1199insAAAAAAAATATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	260	0.0039	20	c.-12 others(31): Show c.-1200_-1199insAAAAAAAAAATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(13): Show ATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0022 a0022	a0022c0024 a0022c0024	a0022c0024t0001 a0022c0024t0001	a0022c0024t0001g0034 a0022c0024t0001g0034	1	260	0.0039	20	c.-12 others(31): Show c.-1200_-1199insAAAAAAAAAAAAAATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATTT others(13): Show ATATATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03831.hp1 HG03669.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0028 a0001c0001t0001g0009 a0001c0001t0001g0028	2	260	0.0077	20	c.-12 others(31): Show c.-1200_-1199insAAAAAAAAAAAAAAAATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCK1_chr5_136970298_137504326	137066963	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0066 a0001c0001t0024g0066	1	152	0.0066	20	c.589 others(35): Show c.589+732_589+751dupGTGTGTGTGTGTGTGTGTGT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	6/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137176502	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0137 a0001c0001t0013g0137	1	152	0.0066	20	c.233 others(39): Show c.233-35828_233-35809dupCACACACACACACACACACA	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	3/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356834	T T	TAGAGAGA others(13): Show TAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0125 a0001c0001t0017g0125	1	152	0.0066	20	c.187 others(39): Show c.187-89780_187-89779insCTCTCTCTCTCTCTCTCTCT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356838	T T	TATATATA others(13): Show TATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	152	0.0066	20	c.187 others(39): Show c.187-89784_187-89783insCTCTCTCTCTCTCTATATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356838	T T	TATATATA others(13): Show TATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18953.hp1 NA18945.hp2 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0139 a0001c0001t0002g0122 a0001c0001t0002g0139	2	152	0.0132	20	c.187 others(39): Show c.187-89784_187-89783insCTCTCTCTCTATATATATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356838	T T	TATATATA others(13): Show TATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0060	1	152	0.0066	20	c.187 others(39): Show c.187-89784_187-89783insCTCTCTATATATATATATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356838	T T	TATATATA others(13): Show TATATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18966.hp1 HG02109.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0029 a0001c0001t0008 a0001c0001t0029	a0001c0001t0008g0073 a0001c0001t0029g0123 a0001c0001t0008g0073 a0001c0001t0029g0123	2	152	0.0132	20	c.187 others(39): Show c.187-89784_187-89783insCTCTATATATATATATATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356873	A A	AGAGAGAG others(13): Show AGAGAGAGAGAGAGAGAGAGT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	152	0.0066	20	c.187 others(39): Show c.187-89819_187-89818insACTCTCTCTCTCTCTCTCTC	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137358390	A A	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02109.hp2 NA18972.hp2 others(1): Show HG01358.hp2 HG02109.hp2 NA18972.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0136 a0001c0001t0002g0145 a0001c0001t0004g0033 others(1): Show a0001c0001t0002g0136 a0001c0001t0002g0145 a0001c0001t0004g0033 a0001c0001t0004g0045	4	152	0.0263	20	c.187 others(39): Show c.187-91355_187-91336dupCCTTCCTTCCTTCCTTCCTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137358864	T T	TATATGAT others(13): Show TATATGATCAAGTCAAGACTC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02615.hp2 HG03017.hp2 others(8): Show HG02135.hp1 HG02615.hp2 HG03017.hp2 HG03831.hp1 NA18747.hp2 NA18941.hp1 NA18953.hp2 NA18983.hp1 NA19007.hp1 NA19074.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 a0001c0001t0021 a0001c0001t0024	a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0064 others(8): Show a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0064 a0001c0001t0003g0023 a0001c0001t0003g0027 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0010g0002 a0001c0001t0013g0137 a0001c0001t0021g0068 a0001c0001t0024g0066	11	152	0.0724	20	c.187 others(39): Show c.187-91810_187-91809insGAGTCTTGACTTGATCATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK3_chr4_166728384_167239494	166728827	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	144	0.0069	20	c.60 others(31): Show c.6093_*6094insTTTTTTTTTTTTTTTTTTTT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding		4556		chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166800183	G G	GAAAAAAA others(13): Show GAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01346.hp1 HG03579.hp2 others(2): Show HG00558.hp1 HG01346.hp1 HG03579.hp2 NA18952.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0004t0003 a0001c0001t0001 a0001c0001t0003 a0001c0004t0003	a0001c0001t0001g0038 a0001c0001t0001g0101 a0001c0001t0001g0123 others(2): Show a0001c0001t0001g0038 a0001c0001t0001g0101 a0001c0001t0001g0123 a0001c0001t0003g0057 a0001c0004t0003g0008	5	144	0.0347	20	c.590 others(37): Show c.590-7914_590-7895dupTTTTTTTTTTTTTTTTTTTT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166847647	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01175.hp2 HG02630.hp1 others(3): Show HG01109.hp2 HG01175.hp2 HG02630.hp1 HG02970.hp2 HG03225.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0005	a0001c0001t0002g0141 a0001c0001t0003g0034 a0001c0001t0003g0045 others(3): Show a0001c0001t0002g0141 a0001c0001t0003g0034 a0001c0001t0003g0045 a0001c0001t0003g0104 a0001c0001t0004g0079 a0001c0002t0005g0074	6	144	0.0417	20	c.589 others(39): Show c.589+41463_589+41482dupTATATATATATATATATATA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166860802	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	144	0.0069	20	c.589 others(39): Show c.589+28327_589+28328insATATATATATATATATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167030083	T T	TTCTATCT others(13): Show TTCTATCTATCTATTTATCTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG02145.hp1 HG01884.hp1 HG01884.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0002g0103 a0001c0001t0003g0025 a0001c0002t0002g0071 a0001c0001t0002g0103 a0001c0001t0003g0025 a0001c0002t0002g0071	3	144	0.0208	20	c.236 others(39): Show c.236-29621_236-29620insTAGATAAATAGATAGATAGA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	3/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167065037	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02056.hp2 HG00621.hp1 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0096 a0001c0001t0013g0100 a0001c0001t0001g0096 a0001c0001t0013g0100	2	144	0.0139	20	c.190 others(37): Show c.190-2520_190-2501dupTTTTTTTTTTTTTTTTTTTT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPON1_chr11_13957723_14273133	14057831	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0045 a0001c0002t0001g0045	1	224	0.0045	20	c.479 others(39): Show c.479+16189_479+16190insAAAAAAAAAAAAAAAAAAAA	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14090824	G G	GCCCCCCC others(13): Show GCCCCCCCCCCCCCCCCCGCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	224	0.0045	20	c.676 others(39): Show c.676+10820_676+10821insGCCCCCCCCCCCCCCCCCCC	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14178045	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01106.hp1 HG01243.hp2 others(4): Show HG00280.hp1 HG01106.hp1 HG01243.hp2 HG02735.hp1 HG03195.hp2 HG03471.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0012 a0001c0003t0016	a0001c0001t0001g0013 a0001c0002t0001g0026 a0001c0002t0003g0197 others(4): Show a0001c0001t0001g0013 a0001c0002t0001g0026 a0001c0002t0003g0197 a0001c0003t0001g0175 a0001c0003t0002g0098 a0001c0003t0012g0116 a0001c0003t0016g0073	7	224	0.0313	20	c.825 others(39): Show c.825+42488_825+42507dupACACACACACACACACACAC	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14272671	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03195.hp1 HG03130.hp2 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0045 a0001c0003t0001g0086 a0001c0002t0001g0045 a0001c0003t0001g0086	2	224	0.0089	20	c.69 others(31): Show c.6984_*6985insAAAAAAAAAAAAAAAAAAAA	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding		4539		chr11	TogoVar
SPON1_chr11_13957723_14273133	14272682	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01106.hp2 HG04184.hp1 others(2): Show HG01099.hp2 HG01106.hp2 HG04184.hp1 HG04199.hp2 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0120 a0001c0002t0001g0132 a0001c0002t0001g0174 others(2): Show a0001c0002t0001g0120 a0001c0002t0001g0132 a0001c0002t0001g0174 a0001c0004t0001g0076 a0001c0004t0001g0077	5	224	0.0223	20	c.69 others(31): Show c.6995_*6996insAAAAAAAAAAAAAAAAAAAC	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding		4550		chr11	TogoVar
SPON1_chr11_13957723_14273133	14272682	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAACAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0113 a0001c0004t0001g0113	1	224	0.0045	20	c.69 others(31): Show c.6995_*6996insAAAAAAAAAAAAAACAAAAC	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding		4550		chr11	TogoVar
SPOP_chr17_49593884_49683097	49665649	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02004.hp1 HG02080.hp2 others(3): Show HG00741.hp2 HG02004.hp1 HG02080.hp2 HG02273.hp1 NA19068.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0205 a0001c0001t0001g0225 a0001c0001t0006g0012 others(3): Show a0001c0001t0001g0205 a0001c0001t0001g0225 a0001c0001t0006g0012 a0001c0001t0006g0013 a0001c0001t0006g0033 a0001c0001t0006g0043	6	390	0.0154	20	c.-67 others(39): Show c.-67+12264_-67+12283dupGTGTGTGTGTGTGTGTGTGT	SPOP	ENSG00000121067.19	transcript	ENST00000504102.6	protein_coding	1/9			chr17	TogoVar
SPPL2A_chr15_50697266_50770706	50703356	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0188 a0001c0001t0051g0188	1	336	0.0030	20	c.44 others(31): Show c.4443_*4444insAAAAAATATATATATATATA	SPPL2A	ENSG00000138600.11	transcript	ENST00000261854.10	protein_coding	15/15	4443		chr15	TogoVar
SPPL2B_chr19_2323684_2360095	2351793	T T	TGCGGGGG others(13): Show TGCGGGGGTGCCAGGTGGGGC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0001 a0015c0021t0001	a0015c0021t0001g0209 a0015c0021t0001g0209	1	414	0.0024	20	c.151 others(37): Show c.1515+200_1515+219dupGCGGGGGTGCCAGGTGGGGC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2351794	G G	GCGGGGGT others(13): Show GCGGGGGTGCCAGGTGGGGCC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02970.hp2 HG03130.hp2 others(2): Show HG02280.hp2 HG02970.hp2 HG03130.hp2 HG03225.hp2 NA19240.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0007 a0002c0005t0007	a0002c0005t0007g0033 a0002c0005t0007g0158 a0002c0005t0007g0159 others(1): Show a0002c0005t0007g0033 a0002c0005t0007g0158 a0002c0005t0007g0159 a0002c0005t0007g0160	5	414	0.0121	20	c.151 others(37): Show c.1515+211_1515+230dupAGGTGGGGCCCGGGGGTGCC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2359758	A A	AACACACA others(13): Show AACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0154 a0002c0007t0003g0154	1	414	0.0024	20	c.65 others(31): Show c.6549_*6550insACACACACACACACACACAC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding		4664		chr19	TogoVar
SPPL3_chr12_120757510_120909358	120830580	G G	GGAGAGAG others(13): Show GGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03098.hp2 NA18939.hp2 others(10): Show HG02818.hp2 HG03098.hp2 NA18939.hp2 NA18957.hp1 NA18960.hp1 NA18965.hp2 NA18979.hp1 NA18980.hp1 NA18989.hp1 NA19001.hp1 NA19083.hp1 NA19084.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0252 others(10): Show a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0252 a0001c0001t0001g0259 a0001c0001t0003g0274 a0001c0001t0003g0284 a0001c0001t0003g0287 a0001c0001t0003g0291 a0001c0001t0003g0308 a0001c0001t0003g0310 a0001c0001t0003g0313 a0001c0001t0003g0317 a0001c0001t0008g0115	13	320	0.0406	20	c.24- others(37): Show c.24-19714_24-19695dupTCTCTCTCTCTCTCTCTCTC	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPPL3_chr12_120757510_120909358	120871130	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00673.hp1 HG01934.hp1 others(6): Show HG00280.hp1 HG00673.hp1 HG01934.hp1 HG02074.hp1 NA18939.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0123 a0001c0001t0004g0153 a0001c0001t0004g0163 others(6): Show a0001c0001t0004g0123 a0001c0001t0004g0153 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0174 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0184	9	320	0.0281	20	c.23+ others(37): Show c.23+32714_23+32715insTTTTTTTTTTTTTTTTTTTT	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPPL3_chr12_120757510_120909358	120871144	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0154 a0001c0001t0004g0154	1	320	0.0031	20	c.23+ others(37): Show c.23+32700_23+32701insCTTTTTTTTTTTTTTTTTTT	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPRED1_chr15_38247836_38362249	38310153	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp2 HG01255.hp1 others(31): Show HG00280.hp1 HG00738.hp2 HG01255.hp1 HG01255.hp2 HG01975.hp2 HG01981.hp2 HG02155.hp1 HG03195.hp2 HG03516.hp2 HG03579.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 NA18747.hp2 NA18947.hp1 NA18952.hp2 NA18957.hp2 NA18963.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18985.hp2 NA18988.hp2 NA19004.hp2 NA19006.hp1 NA19010.hp2 NA19012.hp1 NA19064.hp1 NA19077.hp2 NA19084.hp2 NA19088.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0030 a0001c0001t0032 a0002c0003t0002	a0001c0001t0001g0335 a0001c0001t0002g0226 a0001c0001t0002g0234 others(31): Show a0001c0001t0001g0335 a0001c0001t0002g0226 a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0241 a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0253 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0289 a0001c0001t0002g0294 a0001c0001t0002g0300 a0001c0001t0004g0320 a0001c0001t0004g0328 a0001c0001t0004g0337 a0001c0001t0004g0344 a0001c0001t0004g0350 a0001c0001t0004g0352 a0001c0001t0005g0180 a0001c0001t0005g0197 a0001c0001t0005g0201 a0001c0001t0005g0364 a0001c0001t0030g0181 a0001c0001t0032g0260 a0002c0003t0002g0248	34	378	0.0900	20	c.207 others(39): Show c.207+10607_207+10608insGTGTGTGTGTGTGTGTGTTT	SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr15	TogoVar
SPRED2_chr2_65305851_65437599	65401937	G G	GCGCGCAC others(13): Show GCGCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	276	0.0036	20	c.26+ others(37): Show c.26+30024_26+30025insTGTGTGTGTGTGTGTGCGCG	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	1/5			chr2	TogoVar
SPRED2_chr2_65305851_65437599	65401937	G G	GCGCGCGC others(13): Show GCGCGCGCACACACACACACA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	276	0.0036	20	c.26+ others(37): Show c.26+30024_26+30025insTGTGTGTGTGTGTGCGCGCG	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	1/5			chr2	TogoVar
SPRED2_chr2_65305851_65437599	65401937	G G	GCGCGCGC others(13): Show GCGCGCGCGCGCACACACACA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	276	0.0036	20	c.26+ others(37): Show c.26+30024_26+30025insTGTGTGTGTGCGCGCGCGCG	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	1/5			chr2	TogoVar
SPRING1_chr12_116705171_116743069	116711025	A A	ACACACAC others(13): Show ACACACACACACACACACACG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0100 a0001c0001t0050g0100	1	362	0.0028	20	c.67 others(31): Show c.6784_*6785insCGTGTGTGTGTGTGTGTGTG	SPRING1	ENSG00000111412.6	transcript	ENST00000261318.5	protein_coding	5/5	6784		chr12	TogoVar
SPRR2D_chr1_153034732_153046120	153041798	T T	TCTTCTGC others(13): Show TCTTCTGCACCACATTTGTAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03654.hp1 HG03491.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	453	0.0044	20	c.-76 others(29): Show c.-760_-741dupCTACAAATGTGGTGCAGAAG	SPRR2D	ENSG00000163216.7	transcript	ENST00000360379.4	protein_coding		679		chr1	TogoVar
SPRR5_chr1_152942206_152954255	152948382	G G	GCACACAC others(13): Show GCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02559.hp1 HG02145.hp2 HG02559.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0014 a0004c0004t0005g0014	2	436	0.0046	20	c.-18 others(35): Show c.-18-154_-18-153insACACACACACACACACACAC	SPRR5	ENSG00000283227.2	transcript	ENST00000636302.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPRY3_chrX_155607586_155787459	155616100	G G	GTCTCTCT others(13): Show GTCTCTCTCCCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp1 NA20300.hp2 HG02630.hp2 HG02717.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0069 a0001c0001t0081 a0001c0001t0003 a0001c0001t0069 a0001c0001t0081	a0001c0001t0003g0110 a0001c0001t0069g0109 a0001c0001t0081g0108 a0001c0001t0003g0110 a0001c0001t0069g0109 a0001c0001t0081g0108	3	231	0.0130	20	c.-28 others(39): Show c.-282+3461_-282+3462insCCTCTCTCTCTCTCTCTCTC	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155616100	G G	GTCTCTCT others(13): Show GTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0093 a0001c0001t0039g0093	1	231	0.0043	20	c.-28 others(39): Show c.-282+3464_-282+3483dupTCTCTCTCTCTCTCTCTCTC	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar

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