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
SPECC1_chr17_20004359_20324026	20317259	A A	AATTTTTT others(6): Show AATTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0048 a0001c0006t0048	a0001c0006t0048g0067 a0001c0006t0048g0067	1	29	0.0345	13	c.31 others(24): Show c.3194_*3195insATTTTTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	15/15	3195		chr17	TogoVar
SPECC1_chr17_20004359_20324026	20317259	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp2 HG03195.hp2 HG02055.hp2 HG03195.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0091 a0001c0008t0099 a0001c0008t0091 a0001c0008t0099	a0001c0008t0091g0140 a0001c0008t0099g0139 a0001c0008t0091g0140 a0001c0008t0099g0139	2	30	0.0667	13	c.32 others(24): Show c.3203_*3215dupTTTTTTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	15/15	3216	INFO_REALIGN_3_PRIME	chr17	TogoVar
SPEF2_chr5_35612863_35819611	35793727	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0010 a0002c0001t0001g0010	1	228	0.0044	13	c.473 others(30): Show c.4737+386_4737+387insCACACACACACAC	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	32/36			chr5	TogoVar
SPEN_chr1_15842707_15945456	15904452	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01069.hp1 HG01167.hp2 others(5): Show HG00323.hp2 HG01069.hp1 HG01167.hp2 HG01515.hp2 HG01975.hp2 HG02004.hp2 HG02559.hp1 HG02809.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0001c0014 a0001c0023 others(2): Show a0001c0001 a0001c0014 a0001c0023 a0001c0029 a0016c0022	a0001c0001t0001 a0001c0014t0001 a0001c0023t0003 others(2): Show a0001c0001t0001 a0001c0014t0001 a0001c0023t0003 a0001c0029t0001 a0016c0022t0001	a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0290 others(5): Show a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0290 a0001c0014t0001g0018 a0001c0014t0001g0033 a0001c0023t0003g0006 a0001c0029t0001g0094 a0016c0022t0001g0013	8	71	0.1127	13	c.882 others(30): Show c.882-4856_882-4844dupAAAAAAAAAAAAA	SPEN	ENSG00000065526.13	transcript	ENST00000375759.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPESP1_chr15_68925525_68951811	68942169	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02257.hp1 HG02886.hp1 others(3): Show HG02027.hp2 HG02257.hp1 HG02886.hp1 NA18987.hp2 NA18989.hp1 NA19076.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0050 a0003c0003t0001g0031 a0003c0003t0001g0084 others(2): Show a0002c0002t0001g0050 a0003c0003t0001g0031 a0003c0003t0001g0084 a0003c0003t0001g0087 a0003c0003t0001g0092	6	322	0.0186	13	c.65- others(28): Show c.65-3418_65-3417insTTTTTTTTTTTTT	SPESP1	ENSG00000258484.4	transcript	ENST00000310673.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr15	TogoVar
SPG11_chr15_44557696_44668662	44587718	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03486.hp1 HG03139.hp2 HG03486.hp1	a0006 a0007 a0006 a0007	a0006c0006 a0007c0008 a0006c0006 a0007c0008	a0006c0006t0001 a0007c0008t0001 a0006c0006t0001 a0007c0008t0001	a0006c0006t0001g0044 a0007c0008t0001g0186 a0006c0006t0001g0044 a0007c0008t0001g0186	2	182	0.0110	13	c.490 others(32): Show c.4906+1533_4906+1534insGTTTTTTTTTTTT	SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	28/39			chr15	TogoVar
SPG11_chr15_44557696_44668662	44604931	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0152 a0008c0007t0001g0152	1	92	0.0109	13	c.352 others(32): Show c.3520+1081_3520+1093dupTTTTTTTTTTTTT	SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	20/39			chr15	TogoVar
SPG11_chr15_44557696_44668662	44611091	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp2 HG02258.hp2 others(3): Show HG00408.hp1 HG00673.hp2 HG02258.hp2 NA18952.hp2 NA19081.hp2 NA21309.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0001 a0002c0002t0002 a0003c0003t0001	a0002c0002t0002g0024 a0003c0003t0001g0001 a0003c0003t0001g0009 others(3): Show a0002c0002t0002g0024 a0003c0003t0001g0001 a0003c0003t0001g0009 a0003c0003t0001g0010 a0003c0003t0001g0013 a0003c0003t0001g0014	6	76	0.0789	13	c.314 others(30): Show c.3146-119_3146-107dupTTTTTTTTTTTTT	SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	17/39			chr15	TogoVar
SPG11_chr15_44557696_44668662	44633324	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA19004.hp2 NA19240.hp2 NA18965.hp2 NA19004.hp2 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0050 a0004c0004t0001g0167 a0004c0004t0001g0168 a0001c0001t0001g0050 a0004c0004t0001g0167 a0004c0004t0001g0168	3	29	0.1034	13	c.173 others(30): Show c.1735+168_1735+180dupTTTTTTTTTTTTT	SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	8/39			chr15	TogoVar
SPG7_chr16_89503403_89562766	89531700	G G	GCGTGGTG others(6): Show GCGTGGTGCCACAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	356	0.0028	13	c.988 others(28): Show c.988-203_988-191dupCGTGGTGCCACAT	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPG7_chr16_89503403_89562766	89543347	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18940.hp1 NA19030.hp2 HG02559.hp1 NA18940.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0005 a0002c0002t0002 a0001c0005t0005 a0002c0002t0002	a0001c0005t0005g0302 a0001c0005t0005g0305 a0002c0002t0002g0028 a0001c0005t0005g0302 a0001c0005t0005g0305 a0002c0002t0002g0028	3	278	0.0108	13	c.132 others(32): Show c.1325-1296_1325-1284dupTTTTTTTTTTTTT	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPHK1_chr17_76379609_76392855	76387871	C C	CTCAACAA others(6): Show CTCAACAACAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	1	410	0.0024	13	c.28 others(22): Show c.285_*286insTCAACAACAACAA	SPHK1	ENSG00000176170.14	transcript	ENST00000592299.6	protein_coding		17		chr17	TogoVar
SPHK1_chr17_76379609_76392855	76388640	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00609.hp1 HG00609.hp2 others(23): Show HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG01261.hp1 HG02015.hp2 HG02074.hp1 HG02080.hp2 HG02735.hp1 HG02922.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03490.hp2 HG03669.hp1 NA18939.hp2 NA18968.hp1 NA18973.hp1 NA18987.hp1 NA18987.hp2 NA18994.hp1 NA18999.hp2 NA19000.hp2 NA19058.hp2 NA19070.hp1 NA19084.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0009	a0001c0001 a0001c0002 a0002c0013 others(3): Show a0001c0001 a0001c0002 a0002c0013 a0004c0008 a0005c0006 a0009c0014	a0001c0001t0001 a0001c0001t0013 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0013 a0001c0002t0001 a0002c0013t0001 a0004c0008t0001 a0005c0006t0001 a0009c0014t0001	a0001c0001t0001g0001 a0001c0001t0013g0001 a0001c0002t0001g0001 others(5): Show a0001c0001t0001g0001 a0001c0001t0013g0001 a0001c0002t0001g0001 a0001c0002t0001g0013 a0002c0013t0001g0001 a0004c0008t0001g0001 a0005c0006t0001g0001 a0009c0014t0001g0001	26	181	0.1436	13	c.10 others(24): Show c.1054_*1055insTTTTTTTTTTTTT	SPHK1	ENSG00000176170.14	transcript	ENST00000592299.6	protein_coding		786		chr17	TogoVar
SPHKAP_chr2_227974955_228186687	228049551	C C	CTGGGCTT others(6): Show CTGGGCTTGTTACA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG00741.hp1 others(131): Show HG00642.hp2 HG00735.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01109.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01978.hp2 HG01993.hp1 HG02055.hp2 HG02056.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18946.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18956.hp1 NA18960.hp2 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18969.hp2 NA18970.hp2 NA18974.hp1 NA18979.hp1 NA18981.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp1 NA18992.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19005.hp2 NA19006.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19064.hp2 NA19066.hp2 NA19074.hp1 NA19088.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0008 a0012 a0013 a0014 a0017 a0019 a0021	a0001c0001 a0002c0002 a0002c0012 others(15): Show a0001c0001 a0002c0002 a0002c0012 a0002c0013 a0002c0015 a0002c0025 a0003c0005 a0003c0006 a0003c0014 a0003c0024 a0003c0027 a0008c0008 a0012c0026 a0013c0032 a0014c0023 a0017c0016 a0019c0022 a0021c0031	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(22): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0013 a0002c0002t0014 a0002c0012t0001 a0002c0013t0001 a0002c0015t0001 a0002c0025t0001 a0003c0005t0001 a0003c0005t0005 a0003c0005t0006 a0003c0005t0007 a0003c0006t0001 a0003c0006t0009 a0003c0014t0001 a0003c0024t0001 a0003c0027t0005 a0008c0008t0008 a0012c0026t0007 a0013c0032t0009 a0014c0023t0008 a0017c0016t0001 a0019c0022t0001 a0021c0031t0015	a0001c0001t0001g0093 a0001c0001t0002g0207 a0001c0001t0002g0319 others(131): Show a0001c0001t0001g0093 a0001c0001t0002g0207 a0001c0001t0002g0319 a0002c0002t0001g0002 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0037 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0045 a0002c0002t0001g0051 a0002c0002t0001g0059 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0167 a0002c0002t0001g0173 a0002c0002t0001g0178 a0002c0002t0001g0180 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0190 a0002c0002t0001g0192 a0002c0002t0001g0197 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0220 a0002c0002t0001g0222 a0002c0002t0001g0239 a0002c0002t0001g0241 a0002c0002t0001g0256 a0002c0002t0001g0258 a0002c0002t0001g0268 a0002c0002t0001g0276 a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0002t0013g0145 a0002c0002t0014g0138 a0002c0012t0001g0015 a0002c0012t0001g0016 a0002c0013t0001g0047 a0002c0013t0001g0057 a0002c0015t0001g0017 a0002c0015t0001g0175 a0002c0025t0001g0050 a0003c0005t0001g0075 a0003c0005t0001g0076 a0003c0005t0001g0077 a0003c0005t0001g0079 a0003c0005t0001g0080 a0003c0005t0001g0081 a0003c0005t0001g0094 a0003c0005t0001g0119 a0003c0005t0001g0127 a0003c0005t0001g0128 a0003c0005t0001g0129 a0003c0005t0001g0232 a0003c0005t0001g0248 a0003c0005t0001g0260 a0003c0005t0001g0286 a0003c0005t0001g0294 a0003c0005t0001g0307 a0003c0005t0005g0086 a0003c0005t0005g0087 a0003c0005t0005g0090 a0003c0005t0005g0104 a0003c0005t0005g0110 a0003c0005t0005g0300 a0003c0005t0005g0301 a0003c0005t0006g0108 a0003c0005t0006g0115 a0003c0005t0006g0116 a0003c0005t0006g0121 a0003c0005t0006g0122 a0003c0005t0006g0308 a0003c0005t0006g0309 a0003c0005t0006g0310 a0003c0005t0007g0049 a0003c0005t0007g0140 a0003c0005t0007g0144 a0003c0005t0007g0174 a0003c0005t0007g0177 a0003c0006t0001g0007 a0003c0006t0001g0061 a0003c0006t0001g0078 a0003c0006t0001g0083 a0003c0006t0001g0097 a0003c0006t0001g0098 a0003c0006t0001g0099 a0003c0006t0001g0100 a0003c0006t0001g0102 a0003c0006t0001g0103 a0003c0006t0001g0106 a0003c0006t0001g0107 a0003c0006t0001g0109 a0003c0006t0009g0117 a0003c0014t0001g0124 a0003c0014t0001g0125 a0003c0024t0001g0288 a0003c0027t0005g0105 a0008c0008t0008g0088 a0008c0008t0008g0096 a0008c0008t0008g0320 a0012c0026t0007g0187 a0013c0032t0009g0101 a0014c0023t0008g0223 a0017c0016t0001g0074 a0019c0022t0001g0157 a0021c0031t0015g0266	134	320	0.4188	13	c.247 others(32): Show c.247-22009_247-22008insTGTAACAAGCCCA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228055142	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02683.hp2 HG01256.hp1 HG02683.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0064 a0004c0003t0003g0238 a0004c0003t0003g0064 a0004c0003t0003g0238	2	184	0.0109	13	c.247 others(32): Show c.247-27612_247-27600dupTTTTTTTTTTTTT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228154532	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0176 a0007c0011t0001g0176	1	238	0.0042	13	c.33- others(30): Show c.33-22448_33-22447insATATATATATATA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228154533	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA19009.hp1 HG01934.hp2 NA19009.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0002 a0005c0004t0003 a0001c0001t0002 a0005c0004t0003	a0001c0001t0002g0249 a0005c0004t0003g0020 a0001c0001t0002g0249 a0005c0004t0003g0020	2	222	0.0090	13	c.33- others(30): Show c.33-22449_33-22448insTATATATATATAT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPICE1_chr3_113437718_113520156	113491624	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03139.hp1 NA21309.hp2 HG02622.hp1 HG03139.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0256 a0001c0002t0007g0264 a0001c0002t0007g0265 a0001c0002t0007g0256 a0001c0002t0007g0264 a0001c0002t0007g0265	3	208	0.0144	13	c.492 others(30): Show c.492+1569_492+1581dupTTTTTTTTTTTTT	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	6/17			chr3	TogoVar
SPICE1_chr3_113437718_113520156	113504571	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0317 a0001c0002t0007g0317	1	240	0.0042	13	c.100 others(30): Show c.100-1357_100-1345dupTTTTTTTTTTTTT	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	2/17			chr3	TogoVar
SPIC_chr12_101470336_101491997	101479219	A A	AGAAAGAA others(6): Show AGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03225.hp1 HG06807.hp2 others(1): Show HG02965.hp1 HG03225.hp1 HG06807.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0013 a0001c0003t0001g0013	4	372	0.0108	13	c.98- others(26): Show c.98-360_98-359insAGAAAGAAAGGAA	SPIC	ENSG00000166211.8	transcript	ENST00000551346.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPIDR_chr8_47255938_47741306	47545119	C C	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0120 a0004c0004t0002g0120	1	203	0.0049	13	c.109 others(34): Show c.1098-50689_1098-50688insCTTTCTTTCTTTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47565992	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	74	0.0135	13	c.109 others(34): Show c.1098-29818_1098-29817insATATATATATTTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47565992	A A	ATATATAT others(6): Show ATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	74	0.0135	13	c.109 others(34): Show c.1098-29818_1098-29817insATATATTTTTTTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47565993	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03491.hp2 HG02723.hp2 HG03491.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0003 a0004c0004t0002 a0001c0001t0003 a0004c0004t0002	a0001c0001t0003g0003 a0004c0004t0002g0121 a0001c0001t0003g0003 a0004c0004t0002g0121	2	208	0.0096	13	c.109 others(34): Show c.1098-29818_1098-29817insATATATATATATA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19			chr8	TogoVar
SPIDR_chr8_47255938_47741306	47640841	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	3	0.3333	13	c.154 others(34): Show c.1545-32928_1545-32916dupTTTTTTTTTTTTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPINDOC_chr11_63808456_63832716	63826055	C C	CAGCCTCC others(6): Show CAGCCTCCTGAGTA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0120 a0001c0002t0002g0120	1	390	0.0026	13	c.935 others(28): Show c.935-872_935-860dupAGCCTCCTGAGTA	SPINDOC	ENSG00000168005.9	transcript	ENST00000294244.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPINDOC_chr11_63808456_63832716	63832007	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG01071.hp1 others(4): Show HG00280.hp1 HG00423.hp1 HG01071.hp1 HG01261.hp1 HG02559.hp1 HG02738.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0045 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0045 a0001c0001t0001g0159 a0001c0001t0001g0170 a0001c0002t0001g0126	7	30	0.2333	13	c.48 others(24): Show c.4868_*4869insTTTTTTTTTTTTT	SPINDOC	ENSG00000168005.9	transcript	ENST00000294244.9	protein_coding		4292		chr11	TogoVar
SPINK13_chr5_148263794_148291255	148267272	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	182	0.0055	13	c.-16 others(24): Show c.-1650_-1649insTTTTTTTTTTTTT	SPINK13	ENSG00000214510.10	transcript	ENST00000398450.5	protein_coding		1521		chr5	TogoVar
SPINK4_chr9_33235167_33253567	33237858	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	10	0.1000	13	c.-23 others(24): Show c.-2351_-2350insGTGTGTGTGTGTG	SPINK4	ENSG00000122711.9	transcript	ENST00000379721.4	protein_coding		2308		chr9	TogoVar
SPINK6_chr5_148198042_148220137	148218626	A A	AATGCCCC others(6): Show AATGCCCCCTATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	436	0.0023	13	c.36 others(24): Show c.3676_*3677insATGCCCCCTATAG	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding		3490		chr5	TogoVar
SPINK7_chr5_148307423_148320919	148319254	T T	TTACTGGG others(6): Show TTACTGGGTAGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	446	0.0022	13	c.35 others(24): Show c.3570_*3571insTACTGGGTAGTGG	SPINK7	ENSG00000145879.11	transcript	ENST00000274565.5	protein_coding		3336		chr5	TogoVar
SPINK8_chr3_48301842_48338661	48315720	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0063 a0002c0002t0001g0063	1	129	0.0078	13	c.239 others(30): Show c.239+3764_239+3776dupTTTTTTTTTTTTT	SPINK8	ENSG00000229453.3	transcript	ENST00000434006.3	protein_coding	6/7			chr3	TogoVar
SPINT1_chr15_40839048_40863207	40839444	G G	GAAAAAGA others(6): Show GAAAAAGAGAGACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	356	0.0028	13	c.-48 others(24): Show c.-4808_-4807insAAAAAGAGAGACC	SPINT1	ENSG00000166145.15	transcript	ENST00000562057.6	protein_coding		4603		chr15	TogoVar
SPINT2_chr19_38259573_38297615	38259613	T T	TATATATA others(6): Show TATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0270 a0001c0001t0002g0270	1	349	0.0029	13	c.-52 others(24): Show c.-5280_-5279insATATATATATATA	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding		4959		chr19	TogoVar
SPINT2_chr19_38259573_38297615	38259640	T T	TATATATA others(6): Show TATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0253	1	334	0.0030	13	c.-52 others(24): Show c.-5253_-5252insATATATATATATA	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding		4932		chr19	TogoVar
SPINT2_chr19_38259573_38297615	38289484	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0282 a0001c0001t0002g0282	1	130	0.0077	13	c.391 others(28): Show c.391+310_391+322dupAAAAAAAAAAAAA	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPINT3_chr20_45507461_45520622	45508660	C C	CCCTTCCC others(6): Show CCCTTCCCTTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG03041.hp1 HG02886.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	2	450	0.0044	13	c.39 others(24): Show c.3990_*3991insAGGGAAGGGAAGG	SPINT3	ENSG00000101446.8	transcript	ENST00000217428.7	protein_coding		3800		chr20	TogoVar
SPIRE1_chr18_12441512_12663107	12615327	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00738.hp2 HG01928.hp1 others(9): Show HG00597.hp2 HG00738.hp2 HG01928.hp1 HG02027.hp2 HG02559.hp1 HG03130.hp1 HG03130.hp2 NA18947.hp1 NA18977.hp1 NA18980.hp1 NA19063.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0020 a0001c0001t0034	a0001c0001t0001g0095 a0001c0001t0002g0075 a0001c0001t0002g0086 others(9): Show a0001c0001t0001g0095 a0001c0001t0002g0075 a0001c0001t0002g0086 a0001c0001t0002g0202 a0001c0001t0002g0240 a0001c0001t0002g0243 a0001c0001t0002g0247 a0001c0001t0002g0251 a0001c0001t0002g0260 a0001c0001t0003g0278 a0001c0001t0020g0248 a0001c0001t0034g0327	12	206	0.0583	13	c.372 others(32): Show c.372+19722_372+19734dupTTTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01952.hp1 NA18991.hp2 others(2): Show HG01123.hp1 HG01952.hp1 NA18991.hp2 NA19000.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0104 a0001c0001t0001g0204 a0001c0001t0001g0250 others(2): Show a0001c0001t0001g0104 a0001c0001t0001g0204 a0001c0001t0001g0250 a0001c0001t0002g0087 a0001c0001t0002g0203	5	142	0.0352	13	c.372 others(32): Show c.372+19716_372+19717insATTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(6): Show AAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp2 HG03579.hp2 HG01109.hp1 HG02055.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 a0001c0001t0002 a0001c0001t0003 a0001c0002t0003	a0001c0001t0002g0111 a0001c0001t0003g0281 a0001c0002t0003g0268 a0001c0001t0002g0111 a0001c0001t0003g0281 a0001c0002t0003g0268	3	140	0.0214	13	c.372 others(32): Show c.372+19716_372+19717insATATTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(6): Show AAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0297 a0001c0001t0003g0297	1	138	0.0072	13	c.372 others(32): Show c.372+19716_372+19717insATATATTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAT others(6): Show AAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	138	0.0072	13	c.372 others(32): Show c.372+19716_372+19717insATATATATTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12626887	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0273 a0001c0001t0003g0273	1	233	0.0043	13	c.372 others(30): Show c.372+8174_372+8175insTATATATATATAT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE2_chr16_89823475_89876319	89842208	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG00621.hp2 others(25): Show HG00280.hp1 HG00597.hp1 HG00621.hp2 HG01891.hp1 HG01891.hp2 HG02027.hp2 HG02257.hp1 HG02451.hp1 HG02683.hp2 HG02717.hp2 HG02895.hp2 HG02922.hp2 HG02976.hp2 HG03041.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 NA18949.hp1 NA18960.hp2 NA18990.hp2 NA19043.hp1 NA19057.hp2 NA19074.hp2 NA19240.hp1 NA20905.hp1 NA21309.hp2	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0010	a0001c0001 a0001c0003 a0006c0023 others(2): Show a0001c0001 a0001c0003 a0006c0023 a0007c0010 a0010c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0003t0001 a0006c0023t0001 a0007c0010t0001 a0010c0017t0001	a0001c0001t0001g0024 a0001c0001t0001g0039 a0001c0001t0001g0086 others(25): Show a0001c0001t0001g0024 a0001c0001t0001g0039 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0247 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0002g0036 a0001c0001t0007g0251 a0001c0003t0001g0104 a0006c0023t0001g0249 a0007c0010t0001g0313 a0010c0017t0001g0172	28	122	0.2295	13	c.245 others(30): Show c.245-3104_245-3092dupTTTTTTTTTTTTT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869045	A A	ACATATAT others(6): Show ACATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0274 a0002c0002t0002g0274	1	322	0.0031	13	c.180 others(30): Show c.1807-522_1807-521insCATATATATATAT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14			chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869049	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	319	0.0031	13	c.180 others(30): Show c.1807-518_1807-517insTATATATATATAT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14			chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869051	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 NA21309.hp2 HG02683.hp2 NA21309.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0007c0010t0001 a0001c0001t0001 a0007c0010t0001	a0001c0001t0001g0099 a0007c0010t0001g0313 a0001c0001t0001g0099 a0007c0010t0001g0313	2	316	0.0063	13	c.180 others(30): Show c.1807-516_1807-515insTATATATATATAT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14			chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAATATAT others(6): Show AAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	30	0.0333	13	c.180 others(30): Show c.1807-513_1807-512insATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPNS2_chr17_4493881_4544035	4494974	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03453.hp2 HG03139.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0007 a0001c0001t0003 a0001c0003t0007	a0001c0001t0003g0035 a0001c0003t0007g0168 a0001c0001t0003g0035 a0001c0003t0007g0168	2	43	0.0465	13	c.-40 others(24): Show c.-4074_-4073insAAAAAAAAAAAAA	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding		3906		chr17	TogoVar
SPNS3_chr17_4428940_4493204	4442017	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0354 a0002c0002t0001g0354	1	354	0.0028	13	c.265 others(30): Show c.265+2294_265+2295insGTGTGTGTGTGTG	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	2/11			chr17	TogoVar

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