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
SCAMP1_chr5_78355617_78485739	78448129	CTCTTCTT others(8): Show CTCTTCTTCCTCCTCT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	332	0.0030	-15	c.633 others(32): Show c.633-1790_633-1776delCTTCTTCTTCCTCCT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78469890	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03516.hp2 NA18906.hp2 HG01891.hp2 HG03516.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0024 a0001c0001t0015 a0001c0001t0024	a0001c0001t0015g0197 a0001c0001t0015g0198 a0001c0001t0024g0196 a0001c0001t0015g0197 a0001c0001t0015g0198 a0001c0001t0024g0196	3	320	0.0094	-15	c.853 others(32): Show c.853-5606_853-5592delAAAAAAAAAAAAAAA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP2_chr15_74838730_74878365	74874650	AAAAAAAA others(8): Show AAAAAAAAAAAAATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0045 a0001c0001t0011g0045	1	381	0.0026	-15	c.-14 others(26): Show c.-1410_-1396delATATTTTTTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1286		chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874652	AAAAAAAA others(8): Show AAAAAAAAAAATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0022 a0001c0001t0011g0022	1	367	0.0027	-15	c.-14 others(26): Show c.-1412_-1398delATATATTTTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1288		chr15	TogoVar
SCAMP3_chr1_155250981_155267360	155252712	ATATATAT others(8): Show ATATATATATATTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18951.hp1 NA18612.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0001 a0001c0001t0001g0008	2	371	0.0054	-15	c.35 others(26): Show c.3546_*3560delAAAAATATATATATA	SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding		3268		chr1	TogoVar
SCAMP3_chr1_155250981_155267360	155263392	CAGATACC others(8): Show CAGATACCGCTGGTGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	374	0.0027	-15	c.-12 others(26): Show c.-1256_-1242delCCACCAGCGGTATCT	SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding		1033		chr1	TogoVar
SCAND3_chr6_28565535_28592298	28566842	AGTGCTGG others(8): Show AGTGCTGGGATTACAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0009 a0007c0016t0009	a0007c0016t0009g0045 a0007c0016t0009g0045	1	430	0.0023	-15	c.50 others(26): Show c.5054_*5068delCTGTAATCCCAGCAC	SCAND3	ENSG00000232040.4	transcript	ENST00000452236.3	protein_coding		3692		chr6	TogoVar
SCAPER_chr15_76342904_76910340	76440907	GTTTTTTT others(8): Show GTTTTTTTTTTGTTTT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02895.hp1 HG02622.hp1 HG02895.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0035 a0002c0003t0002g0202 a0001c0001t0001g0035 a0002c0003t0002g0202	2	236	0.0085	-15	c.307 others(34): Show c.3079-6612_3079-6598delAAAACAAAAAAAAAA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	25/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76652272	AAATATAT others(8): Show AAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02074.hp2 HG02135.hp2 others(1): Show HG02040.hp2 HG02074.hp2 HG02135.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016	4	299	0.0134	-15	c.264 others(36): Show c.2645+13366_2645+13380delATATATATATATATT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76656766	TGGAAATT others(8): Show TGGAAATTAAACAACC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0195 a0002c0003t0005g0195	1	310	0.0032	-15	c.264 others(34): Show c.2645+8872_2645+8886delGGTTGTTTAATTTCC	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76680411	GATAATAA others(8): Show GATAATAATAATAATA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp2 HG00741.hp1 others(8): Show HG00639.hp1 HG00738.hp2 HG00741.hp1 HG01175.hp1 HG01261.hp1 HG01433.hp2 HG01978.hp2 HG01993.hp2 HG02132.hp1 HG03017.hp2 HG03239.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0015 a0001c0001 a0002c0002 a0002c0015	a0001c0001t0001 a0002c0002t0002 a0002c0015t0002 a0001c0001t0001 a0002c0002t0002 a0002c0015t0002	a0001c0001t0001g0109 a0002c0002t0002g0227 a0002c0002t0002g0257 others(8): Show a0001c0001t0001g0109 a0002c0002t0002g0227 a0002c0002t0002g0257 a0002c0002t0002g0266 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0275 a0002c0002t0002g0282 a0002c0002t0002g0286 a0002c0015t0002g0220 a0002c0015t0002g0276	11	57	0.1930	-15	c.250 others(36): Show c.2509-14637_2509-14623delTATTATTATTATTAT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	20/31			chr15	TogoVar
SCARA5_chr8_27864883_27997673	27865783	ATATATTT others(8): Show ATATATTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0264 a0001c0005t0008g0264	1	258	0.0039	-15	c.61 others(26): Show c.6136_*6150delAAAAAAAAAAATATA	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding		4099		chr8	TogoVar
SCARA5_chr8_27864883_27997673	27865785	ATATTTTT others(8): Show ATATTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02572.hp2 HG03471.hp1 others(1): Show HG02257.hp2 HG02572.hp2 HG03471.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0002 a0001c0003t0010 a0001c0007t0010 a0001c0003t0002 a0001c0003t0010 a0001c0007t0010	a0001c0003t0002g0030 a0001c0003t0010g0112 a0001c0003t0010g0113 others(1): Show a0001c0003t0002g0030 a0001c0003t0010g0112 a0001c0003t0010g0113 a0001c0007t0010g0017	4	239	0.0167	-15	c.61 others(26): Show c.6134_*6148delAAAAAAAAAAAAATA	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding		4097		chr8	TogoVar
SCARA5_chr8_27864883_27997673	27865787	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG03831.hp1 NA18955.hp1 others(1): Show HG00673.hp2 HG03831.hp1 NA18955.hp1 NA19003.hp2	a0001 a0010 a0001 a0010	a0001c0005 a0001c0008 a0010c0034 a0001c0005 a0001c0008 a0010c0034	a0001c0005t0008 a0001c0008t0008 a0001c0008t0010 others(1): Show a0001c0005t0008 a0001c0008t0008 a0001c0008t0010 a0010c0034t0008	a0001c0005t0008g0234 a0001c0008t0008g0284 a0001c0008t0010g0054 others(1): Show a0001c0005t0008g0234 a0001c0008t0008g0284 a0001c0008t0010g0054 a0010c0034t0008g0305	4	192	0.0208	-15	c.61 others(26): Show c.6132_*6146delAAAAAAAAAAAAAAA	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding		4095		chr8	TogoVar
SCARA5_chr8_27864883_27997673	27920974	TCAAAAAA others(8): Show TCAAAAAAACAGAAAA	T T	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0009 a0002c0016t0009	a0002c0016t0009g0093 a0002c0016t0009g0093	1	312	0.0032	-15	c.916 others(30): Show c.916+582_916+596delTTTTCTGTTTTTTTG	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCD5_chr4_82624539_82803796	82700787	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG02615.hp2 others(6): Show HG01884.hp2 HG02280.hp2 HG02615.hp2 HG02717.hp1 HG02896.hp2 HG03041.hp2 HG03139.hp2 HG03209.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0033	a0001c0001t0002g0099 a0001c0001t0003g0012 a0001c0001t0003g0048 others(6): Show a0001c0001t0002g0099 a0001c0001t0003g0012 a0001c0001t0003g0048 a0001c0001t0003g0073 a0001c0001t0003g0094 a0001c0001t0003g0111 a0001c0001t0003g0188 a0001c0001t0009g0193 a0001c0001t0033g0210	9	10	0.9000	-15	c.363 others(32): Show c.363+4481_363+4495delTTTTTTTTTTTTTTT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	2/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82716639	CCCTGTCT others(8): Show CCCTGTCTCTACTAAA	C C	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	208	0.0048	-15	c.233 others(34): Show c.233-11241_233-11227delTTTAGTAGAGACAGG	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCFD2_chr4_52867982_53371061	52925533	ACAAGGTG others(8): Show ACAAGGTGTGAGGCAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01261.hp1 HG02647.hp1 others(2): Show HG01243.hp2 HG01261.hp1 HG02647.hp1 HG02717.hp1 HG02976.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0101 others(2): Show a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0101 a0001c0001t0001g0123 a0002c0002t0001g0114	5	162	0.0309	-15	c.156 others(34): Show c.1562-4678_1562-4664delATGCCTCACACCTTG	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	52943221	TAAACAAA others(8): Show TAAACAAAACAAAACA	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	109	0.0092	-15	c.156 others(36): Show c.1562-22366_1562-22352delTGTTTTGTTTTGTTT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53060293	CTGGGCTG others(8): Show CTGGGCTGGGGTAGGT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02809.hp2 HG02965.hp2 others(4): Show HG00642.hp2 HG02809.hp2 HG02965.hp2 HG03130.hp2 NA19043.hp2 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0003	a0001c0001t0001g0043 a0001c0001t0001g0067 a0001c0001t0002g0105 others(4): Show a0001c0001t0001g0043 a0001c0001t0001g0067 a0001c0001t0002g0105 a0001c0001t0004g0044 a0001c0003t0003g0065 a0001c0003t0003g0068 a0001c0003t0003g0069	7	162	0.0432	-15	c.156 others(36): Show c.1561+85025_1561+85039delACCTACCCCAGCCCA	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53210567	GTAAAACA others(8): Show GTAAAACAATACCACT	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	162	0.0062	-15	c.131 others(36): Show c.1311+63244_1311+63258delAGTGGTATTGTTTTA	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53254805	TTTTTATT others(8): Show TTTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00423.hp2 others(61): Show HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00558.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01106.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp2 HG01515.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02155.hp1 HG02258.hp1 HG02300.hp2 HG02486.hp1 HG02602.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02897.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03225.hp2 HG03492.hp1 HG03704.hp1 NA18612.hp1 NA18941.hp1 NA18941.hp2 NA18963.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18978.hp2 NA18981.hp1 NA18981.hp2 NA18998.hp2 NA18999.hp2 NA19007.hp2 NA19009.hp2 NA19043.hp2 NA19060.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0007	a0001c0001 a0001c0003 a0001c0004 others(9): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0002c0002 a0003c0008 a0003c0015 a0005c0011 a0005c0012 a0006c0014 a0007c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0003t0003 a0001c0003t0005 a0001c0004t0002 a0001c0004t0003 a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 a0001c0007t0001 a0001c0007t0003 a0002c0002t0002 a0003c0008t0002 a0003c0008t0008 a0003c0008t0014 a0003c0015t0003 a0005c0011t0003 a0005c0012t0001 a0006c0014t0003 a0007c0013t0001	a0001c0001t0001g0022 a0001c0001t0001g0052 a0001c0001t0001g0056 others(61): Show a0001c0001t0001g0022 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0002g0040 a0001c0001t0002g0057 a0001c0001t0002g0084 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0107 a0001c0001t0004g0089 a0001c0001t0006g0161 a0001c0001t0007g0159 a0001c0001t0007g0160 a0001c0001t0008g0091 a0001c0001t0010g0061 a0001c0001t0012g0096 a0001c0003t0003g0064 a0001c0003t0003g0065 a0001c0003t0003g0069 a0001c0003t0003g0086 a0001c0003t0003g0094 a0001c0003t0003g0140 a0001c0003t0005g0100 a0001c0004t0002g0053 a0001c0004t0003g0051 a0001c0005t0001g0023 a0001c0005t0001g0024 a0001c0005t0001g0026 a0001c0005t0001g0034 a0001c0005t0001g0037 a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0005t0003g0046 a0001c0005t0004g0030 a0001c0005t0004g0033 a0001c0007t0001g0029 a0001c0007t0001g0035 a0001c0007t0001g0036 a0001c0007t0003g0025 a0001c0007t0003g0027 a0001c0007t0003g0028 a0002c0002t0002g0050 a0002c0002t0002g0058 a0003c0008t0002g0146 a0003c0008t0008g0148 a0003c0008t0014g0145 a0003c0015t0003g0147 a0005c0011t0003g0003 a0005c0012t0001g0004 a0006c0014t0003g0060 a0007c0013t0001g0031	64	91	0.7033	-15	c.131 others(36): Show c.1311+19006_1311+19020delTAAAATAAAATAAAA	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8			chr4	TogoVar
SCG3_chr15_51676503_51726026	51682321	GATAATAA others(8): Show GATAATAAACAAGGCA	G G	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	400	0.0025	-15	c.83- others(28): Show c.83-192_83-178delATAAACAAGGCAATA	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG3_chr15_51676503_51726026	51709687	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0249 a0003c0004t0002g0249	1	393	0.0025	-15	c.120 others(34): Show c.1208-3644_1208-3630delATATATATATATATT	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG3_chr15_51676503_51726026	51709691	ATATATAT others(8): Show ATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02897.hp1 HG00544.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0166 a0001c0001t0002g0010 a0001c0001t0001g0166 a0001c0001t0002g0010	2	392	0.0051	-15	c.120 others(34): Show c.1208-3640_1208-3626delATATATATATTTTTT	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG3_chr15_51676503_51726026	51709693	ATATATAT others(8): Show ATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0036 a0001c0006t0010g0036	2	382	0.0052	-15	c.120 others(34): Show c.1208-3638_1208-3624delATATATATTTTTTTT	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG3_chr15_51676503_51726026	51709697	ATATATTT others(8): Show ATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02056.hp1 NA19076.hp1 HG01934.hp2 HG02056.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0026 a0001c0001t0001g0175 a0001c0001t0002g0163 a0001c0001t0001g0026 a0001c0001t0001g0175 a0001c0001t0002g0163	3	308	0.0097	-15	c.120 others(34): Show c.1208-3634_1208-3620delATATTTTTTTTTTTT	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB1A1_chr11_62414033_62428195	62425591	GCCCGGTT others(8): Show GCCCGGTTTCTAAAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02155.hp1 HG02083.hp2 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	2	446	0.0045	-15	c.25 others(26): Show c.2501_*2515delCCCGGTTTCTAAAGT	SCGB1A1	ENSG00000149021.7	transcript	ENST00000278282.3	protein_coding		2397		chr11	TogoVar
SCGB1C2_chr17_132569_144067	141404	TGGTGAGG others(8): Show TGGTGAGGAGGACCTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 NA18977.hp2 NA18993.hp2 others(1): Show HG00408.hp2 NA18977.hp2 NA18993.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0002 a0001c0001t0001g0005	4	402	0.0100	-15	c.24 others(26): Show c.2463_*2477delGGTGAGGAGGACCTG	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2338		chr17	TogoVar
SCGB1C2_chr17_132569_144067	141454	AACATGGG others(8): Show AACATGGGTGGGGAGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0015 a0004c0004t0001g0015	1	293	0.0034	-15	c.25 others(26): Show c.2513_*2527delACATGGGTGGGGAGC	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2388		chr17	TogoVar
SCGB2B2_chr19_34585644_34682159	34612022	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00558.hp1 others(46): Show HG00140.hp1 HG00408.hp1 HG00558.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG01071.hp2 HG01081.hp1 HG01168.hp2 HG01169.hp1 HG01358.hp1 HG01496.hp1 HG02027.hp2 HG02040.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp2 HG02155.hp2 HG02300.hp2 HG03471.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18953.hp1 NA18955.hp2 NA18960.hp1 NA18969.hp1 NA18970.hp1 NA18974.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18989.hp2 NA18993.hp1 NA18995.hp1 NA19000.hp2 NA19002.hp1 NA19009.hp2 NA19012.hp1 NA19056.hp2 NA19063.hp1 NA19082.hp1 NA19085.hp1 NA19089.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 others(13): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 a0001c0001t0031 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0051 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0108 a0001c0001t0110 a0001c0001t0111 a0001c0001t0114 a0001c0001t0133	a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 others(44): Show a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0293 a0001c0001t0003g0296 a0001c0001t0003g0298 a0001c0001t0005g0037 a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0072 a0001c0001t0005g0081 a0001c0001t0005g0089 a0001c0001t0014g0012 a0001c0001t0014g0302 a0001c0001t0014g0305 a0001c0001t0014g0306 a0001c0001t0014g0307 a0001c0001t0031g0011 a0001c0001t0031g0277 a0001c0001t0041g0294 a0001c0001t0043g0303 a0001c0001t0043g0304 a0001c0001t0044g0309 a0001c0001t0044g0310 a0001c0001t0051g0016 a0001c0001t0103g0299 a0001c0001t0104g0269 a0001c0001t0105g0295 a0001c0001t0108g0288 a0001c0001t0110g0301 a0001c0001t0111g0308 a0001c0001t0114g0314 a0001c0001t0133g0349	49	67	0.7313	-15	c.-20 others(38): Show c.-2031-15443_-2031-15429delAAAAAAAAAAAAAAA	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCGB2B2_chr19_34585644_34682159	34675913	CGCTGGCT others(8): Show CGCTGGCTTCAAGAGT	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0132 a0001c0001t0132	a0001c0001t0132g0348 a0001c0001t0132g0348	1	368	0.0027	-15	c.-23 others(26): Show c.-2330_-2316delACTCTTGAAGCCAGC	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/4	81351		chr19	TogoVar
SCGN_chr6_25647215_25706783	25658002	CCTTTTTT others(8): Show CCTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA21309.hp2 HG02559.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0231 a0001c0001t0003g0232 a0001c0001t0002g0231 a0001c0001t0003g0232	2	243	0.0082	-15	c.154 others(32): Show c.154-3549_154-3535delCTTTTTTTTTTTTTT	SCGN	ENSG00000079689.15	transcript	ENST00000377961.3	protein_coding	2/10			chr6	TogoVar
SCGN_chr6_25647215_25706783	25658003	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03195.hp1 HG03540.hp1 others(1): Show HG01884.hp2 HG03195.hp1 HG03540.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0003c0003t0003 a0001c0001t0001 a0001c0001t0003 a0003c0003t0003	a0001c0001t0001g0034 a0001c0001t0003g0218 a0003c0003t0003g0010 others(1): Show a0001c0001t0001g0034 a0001c0001t0003g0218 a0003c0003t0003g0010 a0003c0003t0003g0311	4	133	0.0301	-15	c.154 others(32): Show c.154-3509_154-3495delTTTTTTTTTTTTTTT	SCGN	ENSG00000079689.15	transcript	ENST00000377961.3	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCHIP1_chr3_159268244_159902359	159488101	AACTTTAC others(8): Show AACTTTACATGTTCTC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp2 HG01167.hp1 others(41): Show HG00438.hp2 HG00642.hp2 HG01167.hp1 HG01169.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01433.hp2 HG01891.hp1 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp2 HG02486.hp2 HG02572.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03471.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA19007.hp1 NA19007.hp2 NA19030.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0002c0003t0001 a0003c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(41): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0004g0059 a0001c0002t0001g0024 a0001c0002t0001g0048 a0001c0002t0001g0051 a0001c0002t0001g0054 a0001c0002t0001g0057 a0001c0002t0001g0076 a0001c0002t0001g0079 a0001c0002t0001g0082 a0001c0002t0001g0092 a0002c0003t0001g0091 a0003c0005t0001g0053	44	100	0.4400	-15	c.63+ others(34): Show c.63+214222_63+214236delTTACATGTTCTCACT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCIN_chr7_12565720_12665182	12632083	CATTTTAT others(8): Show CATTTTATTTTATTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00408.hp2 others(81): Show HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00738.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01256.hp2 HG01258.hp2 HG01361.hp2 HG01891.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02132.hp2 HG02280.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02896.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03491.hp1 HG03516.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18982.hp1 NA18983.hp2 NA18993.hp2 NA19000.hp2 NA19004.hp2 NA19007.hp1 NA19012.hp2 NA19062.hp2 NA19064.hp1 NA19068.hp2 NA19082.hp1 NA19082.hp2 NA19091.hp1 NA19091.hp2 NA20805.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0019	a0001c0001 a0002c0002 a0002c0003 others(3): Show a0001c0001 a0002c0002 a0002c0003 a0002c0010 a0007c0008 a0019c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(61): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0029 a0001c0001t0037 a0001c0001t0044 a0001c0001t0045 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0076 a0001c0001t0090 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0099 a0001c0001t0102 a0001c0001t0105 a0001c0001t0108 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118 a0001c0001t0125 a0001c0001t0127 a0001c0001t0145 a0001c0001t0149 a0001c0001t0154 a0001c0001t0163 a0001c0001t0166 a0001c0001t0173 a0001c0001t0183 a0002c0002t0001 a0002c0002t0002 a0002c0002t0013 a0002c0002t0020 a0002c0002t0023 a0002c0002t0065 a0002c0002t0098 a0002c0002t0150 a0002c0002t0156 a0002c0002t0157 a0002c0002t0168 a0002c0002t0175 a0002c0002t0177 a0002c0003t0022 a0002c0003t0047 a0002c0010t0001 a0007c0008t0009 a0007c0008t0039 a0007c0008t0147 a0019c0015t0013	a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0121 others(81): Show a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0214 a0001c0001t0002g0145 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0003g0037 a0001c0001t0003g0191 a0001c0001t0003g0223 a0001c0001t0005g0094 a0001c0001t0005g0144 a0001c0001t0005g0164 a0001c0001t0005g0208 a0001c0001t0007g0051 a0001c0001t0007g0086 a0001c0001t0008g0215 a0001c0001t0009g0031 a0001c0001t0009g0056 a0001c0001t0010g0142 a0001c0001t0010g0167 a0001c0001t0011g0034 a0001c0001t0011g0046 a0001c0001t0011g0153 a0001c0001t0012g0106 a0001c0001t0014g0112 a0001c0001t0019g0166 a0001c0001t0019g0230 a0001c0001t0021g0010 a0001c0001t0023g0140 a0001c0001t0024g0098 a0001c0001t0024g0099 a0001c0001t0024g0131 a0001c0001t0029g0019 a0001c0001t0037g0012 a0001c0001t0044g0130 a0001c0001t0045g0053 a0001c0001t0052g0343 a0001c0001t0053g0344 a0001c0001t0054g0345 a0001c0001t0076g0203 a0001c0001t0090g0015 a0001c0001t0094g0102 a0001c0001t0095g0039 a0001c0001t0096g0050 a0001c0001t0097g0189 a0001c0001t0099g0103 a0001c0001t0102g0188 a0001c0001t0105g0040 a0001c0001t0108g0204 a0001c0001t0116g0136 a0001c0001t0117g0030 a0001c0001t0118g0049 a0001c0001t0125g0111 a0001c0001t0127g0044 a0001c0001t0145g0041 a0001c0001t0149g0157 a0001c0001t0154g0137 a0001c0001t0163g0035 a0001c0001t0166g0011 a0001c0001t0173g0081 a0001c0001t0183g0165 a0002c0002t0001g0268 a0002c0002t0002g0247 a0002c0002t0002g0267 a0002c0002t0013g0313 a0002c0002t0020g0244 a0002c0002t0023g0254 a0002c0002t0065g0297 a0002c0002t0098g0253 a0002c0002t0150g0318 a0002c0002t0156g0306 a0002c0002t0157g0328 a0002c0002t0168g0316 a0002c0002t0175g0251 a0002c0002t0177g0263 a0002c0003t0022g0248 a0002c0003t0047g0070 a0002c0010t0001g0261 a0007c0008t0009g0172 a0007c0008t0039g0155 a0007c0008t0147g0156 a0019c0015t0013g0038	84	157	0.5350	-15	c.131 others(34): Show c.1319+2913_1319+2927delTTTTATTTTATTTTA	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12657560	ATATATAT others(8): Show ATATATATATATATTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0161 a0002c0003t0161	a0002c0003t0161g0067 a0002c0003t0161g0067	1	365	0.0027	-15	c.48 others(26): Show c.4847_*4861delATATATATATATTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16	4847	INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12657566	ATATATAT others(8): Show ATATATATTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01346.hp2 others(1): Show HG01069.hp2 HG01071.hp2 HG01346.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0003 a0002c0002t0003 a0002c0003t0089 a0001c0001t0003 a0002c0002t0003 a0002c0003t0089	a0001c0001t0003g0002 a0002c0002t0003g0305 a0002c0003t0089g0235 a0001c0001t0003g0002 a0002c0002t0003g0305 a0002c0003t0089g0235	4	365	0.0110	-15	c.48 others(26): Show c.4853_*4867delATATATTTTTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16	4853	INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12657570	ATATTTTT others(8): Show ATATTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0006 a0002c0014t0006	a0002c0014t0006g0060 a0002c0014t0006g0060	1	341	0.0029	-15	c.48 others(26): Show c.4857_*4871delATTTTTTTTTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16	4857	INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12657572	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02922.hp2 HG02970.hp2 others(8): Show HG02109.hp2 HG02922.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03486.hp2 HG03579.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0008	a0001c0001 a0002c0003 a0004c0005 others(2): Show a0001c0001 a0002c0003 a0004c0005 a0005c0007 a0008c0009	a0001c0001t0006 a0001c0001t0050 a0002c0003t0006 others(5): Show a0001c0001t0006 a0001c0001t0050 a0002c0003t0006 a0002c0003t0142 a0002c0003t0144 a0004c0005t0006 a0005c0007t0006 a0008c0009t0006	a0001c0001t0006g0016 a0001c0001t0050g0349 a0002c0003t0006g0063 others(8): Show a0001c0001t0006g0016 a0001c0001t0050g0349 a0002c0003t0006g0063 a0002c0003t0006g0234 a0002c0003t0006g0236 a0002c0003t0006g0337 a0002c0003t0142g0341 a0002c0003t0144g0072 a0004c0005t0006g0221 a0005c0007t0006g0335 a0008c0009t0006g0242	11	192	0.0573	-15	c.48 others(26): Show c.4869_*4883delTTTTTTTTTTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16	4869	INFO_REALIGN_3_PRIME	chr7	TogoVar
SCMH1_chr1_41022202_41247306	41062742	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0138 a0001c0001t0006g0138	1	302	0.0033	-15	c.110 others(34): Show c.1105+7838_1105+7852delCTTTTTTTTTTTTTT	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	10/15			chr1	TogoVar
SCMH1_chr1_41022202_41247306	41206062	TAGATAAA others(8): Show TAGATAAAACCACAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00735.hp1 others(28): Show HG00099.hp2 HG00140.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01433.hp2 HG01981.hp1 HG02027.hp2 HG02040.hp2 HG02258.hp1 HG02735.hp2 HG03654.hp2 NA18940.hp2 NA18943.hp1 NA18945.hp2 NA18952.hp2 NA18962.hp2 NA18963.hp1 NA18975.hp1 NA18978.hp1 NA18982.hp2 NA18995.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0110 others(28): Show a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0139	31	302	0.1026	-15	c.-11 others(36): Show c.-117-19827_-117-19813delTTTGTGGTTTTATCT	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	1/15			chr1	TogoVar
SCMH1_chr1_41022202_41247306	41233187	CTATATAT others(8): Show CTATATATAAGCCATA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp2 HG01074.hp1 others(14): Show HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01099.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02630.hp2 NA18951.hp2 NA18975.hp2 NA19005.hp1 NA19066.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0004 a0001c0006t0011 a0001c0001t0001 a0001c0001t0004 a0001c0006t0011	a0001c0001t0001g0233 a0001c0001t0004g0251 a0001c0001t0004g0253 others(14): Show a0001c0001t0001g0233 a0001c0001t0004g0251 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0283 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0287 a0001c0001t0004g0295 a0001c0006t0011g0286	17	302	0.0563	-15	c.-11 others(34): Show c.-118+8857_-118+8871delTATGGCTTATATATA	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	1/15			chr1	TogoVar
SCML2_chrX_18234313_18359688	18347723	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	80	0.0125	-15	c.-25 others(32): Show c.-25+6854_-25+6868delTTTTTTTTTTTTTTT	SCML2	ENSG00000102098.19	transcript	ENST00000251900.9	protein_coding	1/14			chrX	TogoVar
SCML4_chr6_107697154_107829313	107778223	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02976.hp1 HG03098.hp1 HG02895.hp2 HG02976.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0004 a0001c0002t0026 a0001c0003t0007 a0001c0001t0004 a0001c0002t0026 a0001c0003t0007	a0001c0001t0004g0158 a0001c0002t0026g0074 a0001c0003t0007g0144 a0001c0001t0004g0158 a0001c0002t0026g0074 a0001c0003t0007g0144	3	236	0.0127	-15	c.-59 others(32): Show c.-59-5852_-59-5838delATATATATATATATA	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN10A_chr3_38691807_38821217	38719367	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01109.hp2 HG03540.hp2 HG00642.hp2 HG01109.hp2 HG03540.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0365 a0003c0002t0002g0366 a0003c0002t0002g0367 a0003c0002t0002g0365 a0003c0002t0002g0366 a0003c0002t0002g0367	3	5	0.6000	-15	c.350 others(32): Show c.3508-556_3508-542delAAAAAAAAAAAAAAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	20/27			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38889802	AAAAATAA others(8): Show AAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01175.hp1 HG01192.hp1 others(15): Show HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01975.hp1 HG02055.hp2 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02965.hp2 HG03041.hp1 HG03471.hp1 NA20805.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0003c0008 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0020 a0001c0002t0001 a0001c0006t0001 a0001c0006t0003 a0003c0008t0001 a0004c0013t0001	a0001c0001t0001g0207 a0001c0001t0002g0074 a0001c0001t0003g0266 others(15): Show a0001c0001t0001g0207 a0001c0001t0002g0074 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0281 a0001c0001t0020g0262 a0001c0002t0001g0234 a0001c0006t0001g0311 a0001c0006t0003g0297 a0003c0008t0001g0134 a0003c0008t0001g0135 a0003c0008t0001g0136 a0003c0008t0001g0139 a0004c0013t0001g0133 a0004c0013t0001g0141	18	79	0.2278	-15	c.283 others(34): Show c.2836-3579_2836-3565delATTTTATTTTATTTT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	19/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38938538	ATATATAT others(8): Show ATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02965.hp1 HG03453.hp1 HG02055.hp1 HG02965.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0137 a0001c0001t0002g0145 a0001c0001t0003g0275 a0001c0001t0002g0137 a0001c0001t0002g0145 a0001c0001t0003g0275	3	305	0.0098	-15	c.488 others(32): Show c.488+6858_488+6872delAAATATATATATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38938540	ATATATAT others(8): Show ATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02717.hp2 HG02818.hp1 others(3): Show HG02615.hp2 HG02717.hp2 HG02818.hp1 HG02886.hp1 HG03041.hp1 HG03540.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0010 a0001c0001 a0003c0010	a0001c0001t0003 a0003c0010t0003 a0001c0001t0003 a0003c0010t0003	a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 others(3): Show a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0270 a0001c0001t0003g0310 a0003c0010t0003g0265	6	292	0.0205	-15	c.488 others(32): Show c.488+6856_488+6870delAAAAATATATATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38938542	ATATATAT others(8): Show ATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02965.hp2 HG02809.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0269 a0001c0001t0003g0277 a0001c0001t0003g0269 a0001c0001t0003g0277	2	295	0.0068	-15	c.488 others(32): Show c.488+6854_488+6868delAAAAAAATATATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar

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