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
SON_chr21_33538038_33582481	33577604	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG02129.hp1 others(12): Show HG00639.hp2 HG00642.hp1 HG02129.hp1 HG02155.hp2 HG02257.hp1 HG02738.hp2 HG03579.hp1 NA18953.hp1 NA18954.hp1 NA18990.hp1 NA18995.hp1 NA18998.hp2 NA19057.hp1 NA19060.hp2 NA19063.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0008 a0018 a0019	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0005c0006 a0008c0013 a0018c0048 a0019c0019	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0005c0006t0001 a0008c0013t0001 a0018c0048t0001 a0019c0019t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0011 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0050 a0001c0001t0001g0077 a0001c0001t0001g0148 a0001c0002t0001g0002 a0001c0002t0001g0145 a0002c0003t0001g0003 a0002c0003t0001g0176 a0005c0006t0001g0157 a0008c0013t0001g0080 a0018c0048t0001g0034 a0019c0019t0001g0169	15	73	0.2055	-32	c.11 others(43): Show c.1181_*1212delACACACACACACACACACACACACACACACAC	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		124		chr21	TogoVar
SORCS1_chr10_106568663_107169706	106736587	CAAGATAA others(25): Show CAAGATAACCCTGGTTAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00438.hp2 others(75): Show HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03225.hp2 HG03453.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18957.hp2 NA18962.hp1 NA18971.hp2 NA18977.hp2 NA18981.hp1 NA18995.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19240.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0011 a0013	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0014 a0001c0018 a0001c0019 a0001c0027 a0001c0028 a0002c0006 a0003c0008 a0003c0015 a0004c0023 a0004c0024 a0004c0025 a0005c0010 a0006c0026 a0008c0029 a0009c0020 a0011c0016 a0013c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0017 a0001c0001t0019 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0003t0001 a0001c0003t0002 a0001c0003t0022 a0001c0004t0002 a0001c0004t0004 a0001c0004t0007 a0001c0004t0013 a0001c0005t0001 a0001c0005t0002 a0001c0007t0016 a0001c0014t0001 a0001c0018t0001 a0001c0019t0001 a0001c0027t0002 a0001c0028t0002 a0002c0006t0001 a0003c0008t0005 a0003c0015t0005 a0004c0023t0006 a0004c0024t0001 a0004c0025t0001 a0005c0010t0001 a0006c0026t0001 a0008c0029t0005 a0009c0020t0001 a0011c0016t0002 a0013c0017t0003	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0036 others(75): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0036 a0001c0001t0001g0073 a0001c0001t0001g0110 a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0002g0031 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0084 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0103 a0001c0001t0003g0083 a0001c0001t0004g0072 a0001c0001t0004g0080 a0001c0001t0004g0101 a0001c0001t0009g0121 a0001c0001t0017g0118 a0001c0001t0019g0104 a0001c0002t0001g0037 a0001c0002t0001g0041 a0001c0002t0001g0095 a0001c0002t0001g0122 a0001c0002t0003g0026 a0001c0002t0003g0032 a0001c0002t0003g0058 a0001c0002t0003g0075 a0001c0002t0003g0081 a0001c0002t0003g0112 a0001c0002t0004g0043 a0001c0002t0006g0049 a0001c0002t0006g0051 a0001c0002t0006g0057 a0001c0003t0001g0019 a0001c0003t0001g0033 a0001c0003t0001g0048 a0001c0003t0001g0070 a0001c0003t0001g0090 a0001c0003t0001g0120 a0001c0003t0002g0005 a0001c0003t0002g0029 a0001c0003t0002g0047 a0001c0003t0022g0129 a0001c0004t0002g0093 a0001c0004t0004g0107 a0001c0004t0007g0002 a0001c0004t0013g0013 a0001c0005t0001g0052 a0001c0005t0001g0062 a0001c0005t0001g0109 a0001c0005t0002g0022 a0001c0005t0002g0030 a0001c0007t0016g0078 a0001c0014t0001g0068 a0001c0018t0001g0038 a0001c0019t0001g0016 a0001c0027t0002g0123 a0001c0028t0002g0124 a0002c0006t0001g0014 a0002c0006t0001g0017 a0002c0006t0001g0050 a0002c0006t0001g0105 a0003c0008t0005g0018 a0003c0015t0005g0007 a0004c0023t0006g0091 a0004c0024t0001g0040 a0004c0025t0001g0044 a0005c0010t0001g0125 a0005c0010t0001g0126 a0006c0026t0001g0064 a0008c0029t0005g0127 a0009c0020t0001g0098 a0011c0016t0002g0054 a0013c0017t0003g0020	78	130	0.6000	-32	c.960 others(49): Show c.960-6505_960-6474delTTTTTTTTTTTTTTTTTAACCAGGGTTA TCTT	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	5/25			chr10	TogoVar
SORCS2_chr4_7187538_7747827	7374108	ATTCTTTC others(25): Show ATTCTTTCTTTCTTTCTTTCCCTCTTTCTTTCT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG01884.hp1 others(7): Show HG00099.hp1 HG00639.hp1 HG01884.hp1 HG01952.hp1 HG02148.hp1 HG02559.hp1 HG02976.hp1 HG03209.hp1 HG03688.hp2 NA19030.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0011	a0001c0001 a0001c0002 a0001c0036 others(5): Show a0001c0001 a0001c0002 a0001c0036 a0001c0053 a0002c0004 a0004c0043 a0006c0045 a0011c0023	a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 others(7): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 a0001c0002t0044 a0001c0036t0040 a0001c0053t0001 a0002c0004t0022 a0004c0043t0031 a0006c0045t0001 a0011c0023t0009	a0001c0001t0003g0097 a0001c0001t0004g0053 a0001c0001t0017g0052 others(7): Show a0001c0001t0003g0097 a0001c0001t0004g0053 a0001c0001t0017g0052 a0001c0002t0044g0019 a0001c0036t0040g0022 a0001c0053t0001g0044 a0002c0004t0022g0114 a0004c0043t0031g0058 a0006c0045t0001g0148 a0011c0023t0009g0122	10	131	0.0763	-32	c.481 others(51): Show c.481-22160_481-22129delCCTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7743802	GCGCGCAC others(25): Show GCGCGCACACACACACACACACACACACACACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 NA19043.hp1 HG03540.hp2 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0023 a0001c0009t0037 a0001c0003t0023 a0001c0009t0037	a0001c0003t0023g0147 a0001c0009t0037g0042 a0001c0003t0023g0147 a0001c0009t0037g0042	2	139	0.0144	-32	c.35 others(43): Show c.3539_*3570delCGCGCACACACACACACACACACACACACACA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding		976		chr4	TogoVar
SORCS3_chr10_104636290_105270242	104684779	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0002 a0002c0013t0002	a0002c0013t0002g0131 a0002c0013t0002g0131	1	21	0.0476	-32	c.627 others(51): Show c.627+42848_627+42879delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105091317	CTCCTTCC others(25): Show CTCCTTCCTTCCTTGCTTCCTTCCTTCGTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00642.hp1 HG02738.hp2 others(6): Show HG00609.hp1 HG00642.hp1 HG02738.hp2 HG03098.hp1 HG03927.hp2 NA18943.hp1 NA18943.hp2 NA18995.hp2 NA19030.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0015 a0007c0019	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0006t0001 a0001c0006t0004 a0001c0015t0002 a0007c0019t0002	a0001c0001t0001g0037 a0001c0001t0004g0107 a0001c0001t0004g0112 others(6): Show a0001c0001t0001g0037 a0001c0001t0004g0107 a0001c0001t0004g0112 a0001c0002t0001g0043 a0001c0006t0001g0077 a0001c0006t0004g0047 a0001c0006t0004g0058 a0001c0015t0002g0130 a0007c0019t0002g0109	9	134	0.0672	-32	c.109 others(51): Show c.1093+1491_1093+1522delTGCTTCCTTCCTTCGTTCCTTCCTTC CTTCCT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	6/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORD_chr15_45018195_45082185	45038126	CCCTTCCT others(25): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02559.hp1 HG03041.hp2 others(1): Show HG01943.hp1 HG02559.hp1 HG03041.hp2 NA18941.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0006	a0001c0001t0001 a0002c0002t0013 a0003c0003t0005 others(1): Show a0001c0001t0001 a0002c0002t0013 a0003c0003t0005 a0004c0006t0013	a0001c0001t0001g0092 a0002c0002t0013g0268 a0003c0003t0005g0095 others(1): Show a0001c0001t0001g0092 a0002c0002t0013g0268 a0003c0003t0005g0095 a0004c0006t0013g0267	4	61	0.0656	-32	c.67- others(47): Show c.67-2244_67-2213delCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TC	SORD	ENSG00000140263.15	transcript	ENST00000267814.14	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SORT1_chr1_109304575_109402918	109378699	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02040.hp2 HG02055.hp2 others(6): Show HG01261.hp1 HG02040.hp2 HG02055.hp2 HG02886.hp1 HG02922.hp2 HG03195.hp2 HG03486.hp1 HG03579.hp2 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0010 a0001c0001 a0001c0003 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0003t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0005 a0005c0010t0005	a0001c0001t0001g0095 a0001c0001t0002g0069 a0001c0003t0005g0018 others(6): Show a0001c0001t0001g0095 a0001c0001t0002g0069 a0001c0003t0005g0018 a0001c0003t0005g0019 a0001c0003t0005g0020 a0001c0003t0005g0022 a0001c0003t0005g0024 a0001c0003t0005g0025 a0005c0010t0005g0021	9	27	0.3333	-32	c.307 others(49): Show c.307-9142_307-9111delATATATATATATATATATATATATATAT ATAT	SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	1/19			chr1	TogoVar
SOX2_chr3_181706925_181719436	181715433	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01099.hp1 HG01123.hp1 others(4): Show HG00140.hp1 HG01099.hp1 HG01123.hp1 HG01168.hp1 HG01261.hp2 HG01358.hp2 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0001 a0001c0001t0004 a0001c0001t0009	a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0009g0000 a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0009g0000	7	12	0.5833	-32	c.21 others(43): Show c.2120_*2151delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SOX2	ENSG00000181449.4	transcript	ENST00000325404.3	protein_coding		998		chr3	TogoVar
SOX5_chr12_23524504_23954670	23726118	CGAGAGAG others(25): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0121 a0001c0001t0003g0121	1	15	0.0667	-32	c.810 others(49): Show c.810+8534_810+8565delTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX6_chr11_15961449_16361546	16063496	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02896.hp1 HG03195.hp2 HG02630.hp1 HG02896.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0028 a0001c0001t0003g0036 a0001c0002t0001g0064 a0001c0001t0003g0028 a0001c0001t0003g0036 a0001c0002t0001g0064	3	31	0.0968	-32	c.110 others(51): Show c.1102-7627_1102-7596delTATATATATATATATATATATATATA TATATA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	9/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16132262	AGAAAGAA others(25): Show AGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02922.hp1 HG03239.hp2 others(6): Show HG01993.hp1 HG02922.hp1 HG03239.hp2 NA18941.hp1 NA18947.hp2 NA18971.hp1 NA18992.hp2 NA18999.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0015 a0001c0001t0023	a0001c0001t0002g0075 a0001c0001t0002g0111 a0001c0001t0002g0114 others(6): Show a0001c0001t0002g0075 a0001c0001t0002g0111 a0001c0001t0002g0114 a0001c0001t0002g0131 a0001c0001t0002g0210 a0001c0001t0005g0106 a0001c0001t0008g0021 a0001c0001t0015g0046 a0001c0001t0023g0110	9	175	0.0514	-32	c.778 others(51): Show c.778-20371_778-20340delCTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16349703	AGGAAGGA others(25): Show AGGAAGGAAGGAAGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0122 a0001c0001t0018g0122	1	180	0.0056	-32	c.-5+ others(47): Show c.-5+6359_-5+6390delCTTCCTTCCTTCCTTCCTTCTTCCTTCCTT CC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15			chr11	TogoVar
SOX8_chr16_976770_991979	991382	TTCAGATG others(25): Show TTCAGATGTGGAGGGGACTTGGGCAGGTGGTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0001 a0001c0004t0001g0001	1	432	0.0023	-32	c.59 others(43): Show c.5997_*6028delTCAGATGTGGAGGGGACTTGGGCAGGTGGTTC	SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding		4404		chr16	TogoVar
SOX8_chr16_976770_991979	991388	TGTGGAGG others(25): Show TGTGGAGGGGACTTGGGCAGGTGGTTCTCAGAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG02970.hp2 NA18966.hp2 HG00099.hp2 HG02970.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0005 a0001c0003t0008 a0001c0001t0001 a0001c0002t0005 a0001c0003t0008	a0001c0001t0001g0001 a0001c0002t0005g0003 a0001c0003t0008g0006 a0001c0001t0001g0001 a0001c0002t0005g0003 a0001c0003t0008g0006	3	431	0.0070	-32	c.60 others(43): Show c.6003_*6034delGTGGAGGGGACTTGGGCAGGTGGTTCTCAGAC	SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding		4410		chr16	TogoVar
SP100_chr2_230411201_230550606	230510473	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0051 a0003c0004t0004g0051	1	2	0.5000	-32	c.205 others(49): Show c.2053-624_2053-593delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	23/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP110_chr2_230160186_230224984	230206595	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03486.hp1 NA18906.hp1 HG02280.hp2 HG03486.hp1 NA18906.hp1	a0005 a0017 a0005 a0017	a0005c0010 a0017c0032 a0017c0033 a0005c0010 a0017c0032 a0017c0033	a0005c0010t0014 a0017c0032t0032 a0017c0033t0032 a0005c0010t0014 a0017c0032t0032 a0017c0033t0032	a0005c0010t0014g0344 a0017c0032t0032g0351 a0017c0033t0032g0052 a0005c0010t0014g0344 a0017c0032t0032g0351 a0017c0033t0032g0052	3	38	0.0789	-32	c.898 others(49): Show c.898+1364_898+1395delTATATATATATATATATATATATATATA TATA	SP110	ENSG00000135899.20	transcript	ENST00000258381.11	protein_coding	8/18			chr2	TogoVar
SP140_chr2_230220736_230318215	230242241	ATAAAGAG others(25): Show ATAAAGAGTTAAGAAAAAAAGGGTGTAAAACAC	A A	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	368	0.0027	-32	c.490 others(47): Show c.490+756_490+787delAAAGAGTTAAGAAAAAAAGGGTGTAAAACA CT	SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP1_chr12_53375176_53421446	53380494	CCGCCCGC others(25): Show CCGCCCGCCCCGGGGGAGGGGGCAGCGTGGCCT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	321	0.0031	-32	c.7+2 others(43): Show c.7+207_7+238delGGGGGAGGGGGCAGCGTGGCCTCGCCCGCCCC	SP1	ENSG00000185591.10	transcript	ENST00000327443.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPAG16_chr2_213279464_214415501	213643348	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03130.hp1 HG03225.hp1 HG02886.hp1 HG03130.hp1 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0072 a0002c0002t0001g0075 a0002c0002t0001g0077 a0001c0001t0002g0072 a0002c0002t0001g0075 a0002c0002t0001g0077	3	46	0.0652	-32	c.107 others(55): Show c.1070+153290_1070+153321delATATATATATATATATATATAT ATATATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214125999	TTTCCTTC others(25): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00735.hp1 HG01361.hp2 others(9): Show HG00673.hp1 HG00735.hp1 HG01361.hp2 HG02015.hp2 HG02615.hp1 HG02615.hp2 HG02886.hp1 HG03130.hp1 HG03239.hp1 NA18977.hp1 NA18993.hp1 NA19030.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0006c0006t0001	a0001c0001t0001g0013 a0001c0001t0001g0068 a0001c0001t0002g0067 others(9): Show a0001c0001t0001g0013 a0001c0001t0001g0068 a0001c0001t0002g0067 a0002c0002t0001g0049 a0002c0002t0001g0054 a0002c0002t0001g0058 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0002g0052 a0003c0003t0001g0029 a0003c0003t0001g0032 a0006c0006t0001g0082	12	59	0.2034	-32	c.159 others(53): Show c.1593+17769_1593+17800delCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG1_chr8_100153587_100246904	100214988	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0038 a0003c0006t0001g0038	1	66	0.0152	-32	c.153 others(51): Show c.1535+1101_1535+1132delATATATATATATATATATATATATAT ATATAT	SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPAG4_chr20_35610829_35626094	35615424	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	115	0.0087	-32	c.-57 others(41): Show c.-579_-548delAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		404		chr20	TogoVar
SPAG9_chr17_50957174_51125868	51053846	AAAAAAAA others(25): Show AAAAAAAAAGTATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0195 a0002c0003t0011g0195	1	290	0.0034	-32	c.495 others(49): Show c.495+2534_495+2565delATATATATATATATATATATATACTTTT TTTT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	3/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51053848	AAAAAAAG others(25): Show AAAAAAAGTATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0196 a0002c0003t0011g0196	1	290	0.0034	-32	c.495 others(49): Show c.495+2532_495+2563delATATATATATATATATATATATATACTT TTTT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	3/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51076997	GCTATCTA others(25): Show GCTATCTAGCTAGCTAGCTAGCTATCTAGCTAT	G G	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	279	0.0036	-32	c.424 others(49): Show c.424+2555_424+2586delATAGCTAGATAGCTAGCTAGCTAGCTAG ATAG	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51077021	TCTAGCTA others(25): Show TCTAGCTATCTATCTAGCTATCTAGCTATCTAG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0281 a0001c0002t0001g0281	1	194	0.0052	-32	c.424 others(49): Show c.424+2531_424+2562delCTAGATAGCTAGATAGCTAGATAGATAG CTAG	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51095992	GATATATA others(25): Show GATATATATATAGTGATATATATATATAGTGAT	G G	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0159 a0001c0001t0006g0159	1	202	0.0050	-32	c.304 others(51): Show c.304-16320_304-16289delATCACTATATATATATATCACTATAT ATATAT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	1/29			chr17	TogoVar
SPATA13_chr13_24155720_24312069	24269358	ATGTATGT others(25): Show ATGTATGTATGTATGTGTGTATGTATGTATGTG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0080 a0001c0002t0080	a0001c0002t0080g0208 a0001c0002t0080g0208	1	101	0.0099	-32	c.216 others(53): Show c.2165-14761_2165-14730delGTGTATGTATGTATGTGTGTATGT ATGTATGT	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA16_chr3_172884357_173146235	173028001	CCCTCCCT others(25): Show CCCTCCCTCCCTCCCTTCCTTCTTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0096 a0003c0003t0001g0096	1	191	0.0052	-32	c.759 others(49): Show c.759-8458_759-8427delAAGGAAGGAAAGAAGGAAGGGAGGGAGG GAGG	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	3/10			chr3	TogoVar
SPATA16_chr3_172884357_173146235	173087998	TTTTCTTT others(25): Show TTTTCTTTCCGTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0143 a0002c0002t0001g0143	1	197	0.0051	-32	c.612 others(51): Show c.612+29090_612+29121delGAAAGAAAGAAAGAAAGAAAGACGGA AAGAAA	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	2/10			chr3	TogoVar
SPATA2L_chr16_89691357_89706705	89703546	CTCCATGC others(25): Show CTCCATGCTGTTCTCGTGATAGTGAATTCCACG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	-32	c.-19 others(43): Show c.-1952_-1921delCGTGGAATTCACTATCACGAGAACAGCATGGA	SPATA2L	ENSG00000158792.16	transcript	ENST00000289805.10	protein_coding		1842		chr16	TogoVar
SPATA2_chr20_49898391_49920529	49903898	GATAGATA others(25): Show GATAGATATATATATATATATATATATATATAT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	2	352	0.0057	-32	c.16 others(43): Show c.1689_*1720delATATATATATATATATATATATATATATCTAT	SPATA2	ENSG00000158480.11	transcript	ENST00000289431.10	protein_coding	3/3	1689		chr20	TogoVar
SPATA2_chr20_49898391_49920529	49916846	AAAAAGTC others(25): Show AAAAAGTCCCCTCCAGCTCTGTGGGTCTATGAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	1	424	0.0024	-32	c.-16 others(43): Show c.-1601_-1570delGTCATAGACCCACAGAGCTGGAGGGGACTTTT	SPATA2	ENSG00000158480.11	transcript	ENST00000289431.10	protein_coding		1318		chr20	TogoVar
SPATA31C1_chr9_87912962_87928657	87917467	TTAAAACT others(25): Show TTAAAACTTACTATTCAAAATTTGCAAAACTAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0031 a0031	a0031c0030 a0031c0030	a0031c0030t0001 a0031c0030t0001	a0031c0030t0001g0017 a0031c0030t0001g0017	1	386	0.0026	-32	c.-52 others(41): Show c.-523_-492delTAAAACTTACTATTCAAAATTTGCAAAACTAA	SPATA31C1	ENSG00000230246.9	transcript	ENST00000706933.1	protein_coding		494		chr9	TogoVar
SPATA5_chr4_122918078_123324433	123007566	ATATGTGT others(25): Show ATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA20129.hp2 NA21309.hp1 NA18522.hp2 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0018 a0001c0001t0006 a0001c0001t0018	a0001c0001t0006g0003 a0001c0001t0018g0001 a0001c0001t0018g0002 a0001c0001t0006g0003 a0001c0001t0018g0001 a0001c0001t0018g0002	3	242	0.0124	-32	c.187 others(53): Show c.1870-20618_1870-20587delATGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATS2L_chr2_200301693_200487264	200352311	TTTTATAT others(25): Show TTTTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02109.hp1 NA18946.hp2 HG00733.hp1 HG02109.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0032 a0001c0003t0061 a0001c0001t0001 a0001c0001t0032 a0001c0003t0061	a0001c0001t0001g0204 a0001c0001t0032g0010 a0001c0003t0061g0127 a0001c0001t0001g0204 a0001c0001t0032g0010 a0001c0003t0061g0127	3	11	0.2727	-32	c.-23 others(51): Show c.-23+22833_-23+22864delTTATATATATATATATATATATATAT ATATAT	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2_chr12_49362462_49532425	49436509	GCTGGCCG others(25): Show GCTGGCCGGGCGGGGGGCTGACCCCCCCGCCTC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02258.hp2 others(11): Show HG01891.hp2 HG02109.hp1 HG02258.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02886.hp2 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03453.hp1 HG03579.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0033 a0001c0001t0001g0050 a0001c0001t0001g0128 others(11): Show a0001c0001t0001g0033 a0001c0001t0001g0050 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0012g0049	14	156	0.0897	-32	c.-24 others(53): Show c.-243-24238_-243-24207delCCCCCGCCTCCTGGCCGGGCGGGG GGCTGACC	SPATS2	ENSG00000123352.18	transcript	ENST00000552918.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPDYA_chr2_28805834_28855610	28819843	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18950.hp1 NA18972.hp2 others(2): Show HG00621.hp1 NA18950.hp1 NA18972.hp2 NA18978.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0051 a0001c0001t0001g0094 others(2): Show a0001c0001t0001g0041 a0001c0001t0001g0051 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0322	5	312	0.0160	-32	c.294 others(47): Show c.294+739_294+770delAAAAAATATATATATATATATATATATATA TA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819845	AAAAAATA others(25): Show AAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02602.hp1 HG03834.hp2 others(3): Show HG01109.hp2 HG02602.hp1 HG03834.hp2 HG03942.hp2 NA18970.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0088 a0001c0001t0001g0090 others(3): Show a0001c0001t0001g0033 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0176	6	311	0.0193	-32	c.294 others(47): Show c.294+741_294+772delAAAATATATATATATATATATATATATATA TA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819847	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01071.hp1 HG01261.hp1 others(15): Show HG00733.hp1 HG01071.hp1 HG01261.hp1 HG02040.hp2 HG02071.hp2 HG02630.hp1 HG03492.hp1 HG03492.hp2 HG03688.hp2 NA18953.hp1 NA18959.hp2 NA18970.hp1 NA18984.hp1 NA18994.hp1 NA19000.hp2 NA19080.hp1 NA19090.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0046 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0046 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0151 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0180	18	317	0.0568	-32	c.294 others(47): Show c.294+743_294+774delAATATATATATATATATATATATATATATA TA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819849	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03471.hp1 HG03669.hp2 others(2): Show HG02922.hp1 HG03471.hp1 HG03669.hp2 NA18906.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0120 a0001c0001t0001g0145 others(2): Show a0001c0001t0001g0087 a0001c0001t0001g0120 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0160	5	286	0.0175	-32	c.294 others(47): Show c.294+766_294+797delATATATATATATATATATATATATATATAT AT	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYE10_chr7_73099008_73160431	73156135	CACACTCT others(25): Show CACACTCTCTCTCTCTCTCTCTCTCTCTGTCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0105	1	216	0.0046	-32	c.-14 others(43): Show c.-1484_-1453delCAGACAGAGAGAGAGAGAGAGAGAGAGAGTGT	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding		705		chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73156136	ACACTCTC others(25): Show ACACTCTCTCTCTCTCTCTCTCTCTCTGTCTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	200	0.0050	-32	c.-14 others(43): Show c.-1485_-1454delACAGACAGAGAGAGAGAGAGAGAGAGAGAGTG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding		706		chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73156138	ACTCTCTC others(25): Show ACTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0008 a0003c0006t0008	a0003c0006t0008g0124 a0003c0006t0008g0124	1	160	0.0063	-32	c.-14 others(43): Show c.-1487_-1456delAGACAGACAGAGAGAGAGAGAGAGAGAGAGAG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding		708		chr7	TogoVar
SPDYE3_chr7_100302702_100327196	100312805	GATAGATG others(25): Show GATAGATGTTGCAGTCAGCTGAGATTGCACCAC	G G	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	342	0.0029	-32	c.764 others(47): Show c.764-334_764-303delATAGATGTTGCAGTCAGCTGAGATTGCACC AC	SPDYE3	ENSG00000214300.7	transcript	ENST00000332397.6	protein_coding	4/10			chr7	TogoVar
SPECC1_chr17_20004359_20324026	20051109	TTTCTTTC others(25): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19240.hp1 HG03225.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0178 a0001c0001t0031g0181 a0001c0001t0031g0178 a0001c0001t0031g0181	2	247	0.0081	-32	c.-22 others(51): Show c.-22+41693_-22+41724delTTTCTTTCTTTCTTTCTTTCTTTCCT TCTTTC	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPEF2_chr5_35612863_35819611	35769992	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp1 HG02615.hp2 others(7): Show HG01243.hp2 HG02258.hp1 HG02615.hp2 HG02717.hp1 HG02723.hp1 HG02922.hp2 HG03195.hp1 HG03486.hp2 NA19240.hp1 NA20300.hp2	a0006 a0008 a0006 a0008	a0006c0008 a0008c0009 a0006c0008 a0008c0009	a0006c0008t0001 a0008c0009t0001 a0006c0008t0001 a0008c0009t0001	a0006c0008t0001g0025 a0006c0008t0001g0039 a0006c0008t0001g0040 others(7): Show a0006c0008t0001g0025 a0006c0008t0001g0039 a0006c0008t0001g0040 a0006c0008t0001g0072 a0006c0008t0001g0090 a0008c0009t0001g0165 a0008c0009t0001g0166 a0008c0009t0001g0167 a0008c0009t0001g0168 a0008c0009t0001g0169	10	266	0.0376	-32	c.380 others(51): Show c.3802-1616_3802-1585delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGC	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	26/36			chr5	TogoVar
SPIDR_chr8_47255938_47741306	47588026	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02809.hp1 HG02886.hp2 others(1): Show HG02602.hp2 HG02809.hp1 HG02886.hp2 HG03491.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0005 a0001c0001t0001 a0001c0001t0003 a0002c0002t0005	a0001c0001t0001g0164 a0001c0001t0003g0002 a0001c0001t0003g0003 others(1): Show a0001c0001t0001g0164 a0001c0001t0003g0002 a0001c0001t0003g0003 a0002c0002t0005g0022	4	42	0.0952	-32	c.109 others(51): Show c.1098-7755_1098-7724delTATATATATATATATATATATATATA TATATA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPINK13_chr5_148263794_148291255	148284123	CTTCCTCT others(25): Show CTTCCTCTCTTCCTTCATCAATTCCTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00597.hp2 others(40): Show HG00544.hp1 HG00544.hp2 HG00597.hp2 HG01884.hp1 HG02015.hp2 HG02109.hp1 HG02129.hp1 HG02155.hp1 HG02258.hp1 HG02280.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02886.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03688.hp1 NA18612.hp1 NA18906.hp1 NA18941.hp1 NA18947.hp2 NA18953.hp2 NA18960.hp2 NA18965.hp2 NA18975.hp1 NA18977.hp1 NA18981.hp2 NA18990.hp2 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19011.hp1 NA19054.hp1 NA19064.hp2 NA19066.hp1 NA19075.hp1 NA19076.hp1 NA19084.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0024 a0001c0001t0002g0028 others(15): Show a0001c0001t0002g0004 a0001c0001t0002g0024 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0057 a0001c0001t0002g0094 a0001c0001t0002g0098 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0132	43	374	0.1150	-32	c.237 others(49): Show c.237-1871_237-1840delCTCTTCCTTCATCAATTCCTTCCTTCTT TCCT	SPINK13	ENSG00000214510.10	transcript	ENST00000398450.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar

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