Joint Open Genome and Omics Platform (JoGo)

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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
SCAPER_chr15_76342904_76910340	76442047	C C	CTATATAT others(21): Show CTATATATACATGTATATATAGATATAGA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0249 a0002c0003t0007g0249	1	310	0.0032	28	c.307 others(47): Show c.3079-7765_3079-7738dupTCTATATCTATATATACATGTATATA TA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	25/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76488714	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG00639.hp1 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0015 a0002c0002 a0002c0015	a0002c0002t0002 a0002c0015t0002 a0002c0002t0002 a0002c0015t0002	a0002c0002t0002g0269 a0002c0015t0002g0220 a0002c0002t0002g0269 a0002c0015t0002g0220	2	9	0.2222	28	c.295 others(49): Show c.2954+16117_2954+16144dupAAAAAAAAAAAAAAAAAAAAAAAA AAAA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	24/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76652371	C C	CACACACA others(21): Show CACACACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	24	0.0417	28	c.264 others(49): Show c.2645+13281_2645+13282insATATATATATATATATATATATGT GTGT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76726124	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01123.hp2 HG02083.hp1 others(4): Show HG00621.hp1 HG01123.hp2 HG02083.hp1 HG03017.hp1 NA18967.hp2 NA18980.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0005t0001 a0001c0001t0001 a0001c0001t0003 a0001c0005t0001	a0001c0001t0001g0006 a0001c0001t0001g0039 a0001c0001t0001g0050 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0039 a0001c0001t0001g0050 a0001c0001t0001g0074 a0001c0001t0003g0118 a0001c0001t0003g0164 a0001c0005t0001g0310	7	51	0.1373	28	c.216 others(47): Show c.2165+2443_2165+2470dupATATATATATATATATATATATATAT AT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	17/31			chr15	TogoVar
SCAP_chr3_47408681_47480941	47473080	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0002 a0001c0018t0002	a0001c0018t0002g0300 a0001c0018t0002g0300	1	27	0.0370	28	c.-99 others(45): Show c.-99+2718_-99+2719insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	1/22			chr3	TogoVar
SCARA5_chr8_27864883_27997673	27936592	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0034 a0003c0011t0034	a0003c0011t0034g0139 a0003c0011t0034g0139	1	27	0.0370	28	c.242 others(47): Show c.242-14348_242-14347insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	3/8			chr8	TogoVar
SCD5_chr4_82624539_82803796	82653676	T T	TGATAGAC others(21): Show TGATAGACAGACAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00738.hp2 HG02486.hp2 others(13): Show HG00621.hp2 HG00738.hp2 HG02486.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp2 NA18941.hp2 NA18947.hp2 NA18949.hp2 NA18955.hp1 NA18993.hp2 NA19007.hp1 NA19060.hp2 NA19077.hp1 NA19088.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011	a0001c0001t0001g0021 a0001c0001t0002g0030 a0001c0001t0002g0031 others(13): Show a0001c0001t0001g0021 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0046 a0001c0001t0002g0068 a0001c0001t0002g0099 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0132 a0001c0001t0002g0139 a0001c0001t0002g0159 a0001c0001t0002g0172 a0001c0001t0003g0189 a0001c0001t0011g0004	16	32	0.5000	28	c.570 others(47): Show c.570-16854_570-16853insTATCTATCTATCTATCTGTCTGTCTA TC	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82653676	T T	TGATAGAT others(21): Show TGATAGATAGATAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG04199.hp2 HG02056.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0028 a0001c0001t0001g0029	2	18	0.1111	28	c.570 others(47): Show c.570-16881_570-16854dupTATCTATCTATCTATCTATCTATCTA TC	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82664999	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	42	0.0238	28	c.569 others(47): Show c.569+15707_569+15708insTATATATATATATATATAGAGAGAGA GA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82664999	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0200 a0001c0001t0015g0200	1	42	0.0238	28	c.569 others(47): Show c.569+15707_569+15708insTATATATATATAGAGAGAGAGAGAGA GA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCEL_chr13_77530706_77650263	77633442	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18522.hp1 HG03486.hp1 NA18522.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0043 a0003c0005t0002g0049 a0003c0005t0002g0043 a0003c0005t0002g0049	2	103	0.0194	28	c.169 others(45): Show c.1692-913_1692-912insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding	28/32		INFO_REALIGN_3_PRIME	chr13	TogoVar
SCFD2_chr4_52867982_53371061	53140392	A A	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02280.hp2 HG02602.hp1 others(5): Show HG00408.hp1 HG02280.hp2 HG02602.hp1 HG02809.hp1 HG03195.hp2 HG03540.hp1 NA18978.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0063 others(5): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0063 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0002g0093 a0001c0001t0002g0106 a0001c0001t0002g0107	8	16	0.5000	28	c.156 others(47): Show c.1561+4940_1561+4941insATATATATATATATATATATATATAT TT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53258577	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0027 a0001c0007t0003g0027	1	79	0.0127	28	c.131 others(49): Show c.1311+15248_1311+15249insGTATATATATATATATATATATAT ATAT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8			chr4	TogoVar
SCG3_chr15_51676503_51726026	51704244	C C	CATACATA others(21): Show CATACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	110	0.0091	28	c.120 others(47): Show c.1207+3003_1207+3004insCATATATATATATATATATATATATA TA	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG3_chr15_51676503_51726026	51704764	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG01071.hp2 others(3): Show HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01981.hp1 HG03453.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(3): Show a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0286 a0001c0001t0003g0077 a0001c0001t0005g0097	6	88	0.0682	28	c.120 others(47): Show c.1207+3524_1207+3551dupTATATATATATATATATATATATATA TA	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	48	0.0208	28	c.226 others(47): Show c.226+13394_226+13395insATATATATATATATATATATATATGT AT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB2A1_chr11_62203673_62218943	62213012	G G	GCACATAT others(21): Show GCACATATATACACATATATACATATATA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	98	0.0102	28	c.244 others(43): Show c.244-702_244-701insCATATATACATATATACACATATATACA	SCGB2A1	ENSG00000124939.6	transcript	ENST00000244930.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCGB2B2_chr19_34585644_34682159	34608660	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG01258.hp1 others(5): Show HG00597.hp1 HG00609.hp2 HG01258.hp1 HG01928.hp2 HG02630.hp2 HG04184.hp2 NA19064.hp2 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0016 a0001c0001t0021 a0004c0005t0076	a0001c0001t0002g0221 a0001c0001t0002g0247 a0001c0001t0006g0146 others(5): Show a0001c0001t0002g0221 a0001c0001t0002g0247 a0001c0001t0006g0146 a0001c0001t0008g0166 a0001c0001t0016g0115 a0001c0001t0016g0128 a0001c0001t0021g0142 a0004c0005t0076g0204	8	29	0.2759	28	c.-20 others(51): Show c.-2031-12067_-2031-12066insATATATATATATATATATATAT ATATAT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCGB2B2_chr19_34585644_34682159	34669714	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01106.hp1 HG01168.hp1 others(35): Show HG00544.hp1 HG01106.hp1 HG01168.hp1 HG01243.hp2 HG01258.hp1 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01981.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02132.hp1 HG02257.hp1 HG02572.hp2 HG02886.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03471.hp1 HG03834.hp2 HG04199.hp1 NA18612.hp1 NA18956.hp1 NA18959.hp2 NA18970.hp2 NA19000.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp2 NA19078.hp2 NA19089.hp1 NA19091.hp1 NA20129.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(19): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0026 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0054 a0001c0001t0057 a0001c0001t0060 a0001c0001t0061 a0001c0001t0063 a0001c0001t0064 a0001c0001t0087 a0002c0002t0004	a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0005g0077 others(35): Show a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0005g0077 a0001c0001t0005g0081 a0001c0001t0006g0153 a0001c0001t0006g0156 a0001c0001t0006g0159 a0001c0001t0006g0160 a0001c0001t0006g0168 a0001c0001t0006g0170 a0001c0001t0007g0149 a0001c0001t0007g0169 a0001c0001t0007g0171 a0001c0001t0007g0173 a0001c0001t0008g0166 a0001c0001t0012g0165 a0001c0001t0015g0161 a0001c0001t0020g0151 a0001c0001t0020g0157 a0001c0001t0021g0155 a0001c0001t0021g0167 a0001c0001t0026g0150 a0001c0001t0026g0152 a0001c0001t0035g0017 a0001c0001t0036g0075 a0001c0001t0036g0082 a0001c0001t0037g0172 a0001c0001t0038g0154 a0001c0001t0054g0076 a0001c0001t0057g0083 a0001c0001t0060g0085 a0001c0001t0061g0079 a0001c0001t0063g0084 a0001c0001t0064g0080 a0001c0001t0087g0158 a0002c0002t0004g0162 a0002c0002t0004g0163 a0002c0002t0004g0164	38	107	0.3551	28	c.-20 others(49): Show c.-2032+5915_-2032+5916insGTGTGTGTGTGTGTGTGTGTGTGT GTGT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCGB2B2_chr19_34585644_34682159	34669714	T T	TACACACA others(21): Show TACACACATACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0121 a0001c0001t0121	a0001c0001t0121g0324 a0001c0001t0121g0324	1	70	0.0143	28	c.-20 others(49): Show c.-2032+5915_-2032+5916insGTGTGTGTGTGTGTGTGTGTATGT GTGT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCHIP1_chr3_159268244_159902359	159550058	C C	CTTATCTT others(21): Show CTTATCTTAAGATATCTTAAGAAAATTAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	44	0.0227	28	c.64- others(47): Show c.64-214347_64-214320dupGATATCTTAAGAAAATTAATTATCTT AA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159828472	C C	CGTATATA others(21): Show CGTATATATATACGTATATATACGTATAT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	96	0.0104	28	c.760 others(47): Show c.760-37691_760-37690insGTATATATATACGTATATATACGTAT AT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	2/7			chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159828472	C C	CGTATATA others(21): Show CGTATATATATACGTATATATATGTATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02965.hp2 NA20805.hp2 HG02027.hp2 HG02965.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0005g0080 a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0005g0080	3	98	0.0306	28	c.760 others(47): Show c.760-37691_760-37690insGTATATATATACGTATATATATGTAT AT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	2/7			chr3	TogoVar
SCLT1_chr4_128878993_129098539	128975040	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA18949.hp1 NA19079.hp1 HG02717.hp1 NA18949.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0201 a0001c0001t0001g0229 a0001c0010t0001g0061 a0001c0001t0001g0201 a0001c0001t0001g0229 a0001c0010t0001g0061	3	80	0.0375	28	c.687 others(45): Show c.687-4573_687-4572insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	9/20			chr4	TogoVar
SCLY_chr2_238056001_238104413	238098563	A A	AGGACCGC others(21): Show AGGACCGCCCACATGGGACCGCCCACATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0112 a0001c0001t0112	a0001c0001t0112g0055 a0001c0001t0112g0055	1	352	0.0028	28	c.21 others(37): Show c.212_*213insCGCCCACATGGGACCGCCCACATGGGAC	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	213	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098579	G G	GACCGCCC others(21): Show GACCGCCCACATGGGACCGCCCACATAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp1 NA19240.hp1 HG02258.hp1 NA19240.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0062 a0003c0006t0062	a0003c0006t0062g0040 a0003c0006t0062g0040	2	348	0.0057	28	c.23 others(37): Show c.235_*236insGGGACCGCCCACATAGAACCGCCCACAT	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	236	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098581	C C	CCGCCCAC others(21): Show CCGCCCACATGGGACCGCCCACATGGGAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0138 a0001c0001t0005g0138	1	260	0.0038	28	c.23 others(37): Show c.235_*236insGGGACCGCCCACATGGGAACGCCCACAT	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	236	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098591	A A	AGGACCGC others(21): Show AGGACCGCCCACATGGGACCGCCCACATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0073 a0002c0002t0073	a0002c0002t0073g0201 a0002c0002t0073g0201	1	293	0.0034	28	c.24 others(37): Show c.249_*250insGGGACCGCCCACATGGGACCGCCCACAT	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	250	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098605	A A	AGGACCGC others(21): Show AGGACCGCCCACATGGGACCGCCCACATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp1 HG02071.hp1 NA18948.hp1 others(1): Show HG00609.hp1 HG02071.hp1 NA18948.hp1 NA18949.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0024 a0002c0002t0161 a0001c0001t0024 a0002c0002t0161	a0001c0001t0024g0046 a0001c0001t0024g0050 a0001c0001t0024g0062 others(1): Show a0001c0001t0024g0046 a0001c0001t0024g0050 a0001c0001t0024g0062 a0002c0002t0161g0006	4	216	0.0185	28	c.27 others(37): Show c.278_*305dupGGGACCGCCCACATGGGACCGCCCACAT	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	306	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098609	C C	CCGCCCAC others(21): Show CCGCCCACATGGGACCGCCCACATGGGAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00621.hp1 HG02723.hp2 HG04199.hp2 others(3): Show HG00621.hp1 HG02723.hp2 HG04199.hp2 NA19057.hp2 NA19065.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0097 a0001c0001t0098 a0001c0001t0018 a0001c0001t0097 a0001c0001t0098	a0001c0001t0018g0005 a0001c0001t0018g0066 a0001c0001t0097g0090 others(1): Show a0001c0001t0018g0005 a0001c0001t0018g0066 a0001c0001t0097g0090 a0001c0001t0098g0042	6	282	0.0213	28	c.28 others(37): Show c.281_*282insACGCCCACATGGGACCGCCCACATGGGA	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	282	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098619	G G	GGGACCGC others(21): Show GGGACCGCCCACATAGAACCGTCCACATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp1 NA18944.hp2 NA18952.hp1 others(3): Show HG00597.hp1 NA18944.hp2 NA18952.hp1 NA18960.hp1 NA18962.hp2 NA18980.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0056 a0001c0003t0147 a0001c0003t0027 a0001c0003t0056 a0001c0003t0147	a0001c0003t0027g0032 a0001c0003t0027g0175 a0001c0003t0056g0118 others(2): Show a0001c0003t0027g0032 a0001c0003t0027g0175 a0001c0003t0056g0118 a0001c0003t0056g0127 a0001c0003t0147g0144	6	351	0.0171	28	c.27 others(37): Show c.277_*278insAGAACCGTCCACATAGGACCGCCCACAT	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	278	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098626	C C	CCCACATG others(21): Show CCCACATGGGAACGCCCACATAGAACCGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0087 a0007c0017t0087	a0007c0017t0087g0250 a0007c0017t0087g0250	1	363	0.0028	28	c.28 others(37): Show c.281_*282insACGCCCACATAGAACCGTCCACATGGGA	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	282	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098626	C C	CCCACATG others(21): Show CCCACATGGGACCGCCCACATAGAACCGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0027 a0001c0001t0103g0027	1	363	0.0028	28	c.29 others(37): Show c.291_*292insAGAACCGTCCACATGGGACCGCCCACAT	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	292	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098633	G G	GGGACCGC others(21): Show GGGACCGCCCACATAGAACCGTCCACATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02165.hp1 NA18959.hp2 NA19082.hp2 HG02165.hp1 NA18959.hp2 NA19082.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0016 a0001c0001 a0009c0016	a0001c0001t0023 a0009c0016t0023 a0001c0001t0023 a0009c0016t0023	a0001c0001t0023g0115 a0001c0001t0023g0117 a0009c0016t0023g0116 a0001c0001t0023g0115 a0001c0001t0023g0117 a0009c0016t0023g0116	3	316	0.0095	28	c.29 others(37): Show c.291_*292insAGAACCGTCCACATAGGACCGCCCACAT	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	292	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098640	C C	CCCACATG others(21): Show CCCACATGGGAACGCCCACATAGAACCGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG01168.hp1 others(30): Show HG00099.hp2 HG00738.hp2 HG01168.hp1 HG01255.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01952.hp1 HG01981.hp2 HG02074.hp2 HG02129.hp2 HG02300.hp2 HG02602.hp2 HG02735.hp2 HG02886.hp2 HG02922.hp1 HG02976.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03942.hp1 HG04199.hp1 HG04228.hp2 NA18950.hp2 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0001c0004 a0001c0005 others(3): Show a0001c0003 a0001c0004 a0001c0005 a0002c0002 a0002c0013 a0004c0009	a0001c0003t0130 a0001c0004t0002 a0001c0004t0033 others(8): Show a0001c0003t0130 a0001c0004t0002 a0001c0004t0033 a0001c0004t0057 a0001c0004t0155 a0001c0004t0170 a0001c0005t0002 a0001c0005t0140 a0002c0002t0036 a0002c0013t0002 a0004c0009t0136	a0001c0003t0130g0155 a0001c0004t0002g0007 a0001c0004t0002g0011 others(24): Show a0001c0003t0130g0155 a0001c0004t0002g0007 a0001c0004t0002g0011 a0001c0004t0002g0018 a0001c0004t0002g0244 a0001c0004t0002g0245 a0001c0004t0002g0248 a0001c0004t0002g0249 a0001c0004t0002g0251 a0001c0004t0002g0252 a0001c0004t0002g0255 a0001c0004t0002g0256 a0001c0004t0002g0257 a0001c0004t0002g0258 a0001c0004t0002g0262 a0001c0004t0033g0011 a0001c0004t0033g0253 a0001c0004t0033g0254 a0001c0004t0057g0037 a0001c0004t0155g0261 a0001c0004t0170g0007 a0001c0005t0002g0246 a0001c0005t0140g0003 a0002c0002t0036g0002 a0002c0002t0036g0035 a0002c0013t0002g0260 a0004c0009t0136g0160	33	363	0.0909	28	c.29 others(37): Show c.295_*296insACGCCCACATAGAACCGTCCACATGGGA	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	296	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098640	C C	CCCACATG others(21): Show CCCACATGGGACCGCCCACATAGAACCGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0131 a0001c0003t0131	a0001c0003t0131g0130 a0001c0003t0131g0130	1	331	0.0030	28	c.28 others(37): Show c.288_*315dupACATGGGACCGCCCACATAGAACCGTCC	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	316	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098649	G G	GACCGCCC others(21): Show GACCGCCCACATGGGACCGCCCACATAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0154 a0001c0005t0154	a0001c0005t0154g0003 a0001c0005t0154g0003	1	388	0.0026	28	c.30 others(37): Show c.305_*306insGGGACCGCCCACATAGAACCGCCCACAT	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	306	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCML4_chr6_107697154_107829313	107751572	A A	ATCTTTCT others(21): Show ATCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0083 a0001c0001t0010g0083	1	54	0.0185	28	c.157 others(45): Show c.157-1787_157-1760dupAAGAAAGAAAGAAAGAAAGAAAGAAAGA	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	2/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	174	0.0057	28	c.-59 others(45): Show c.-59-5837_-59-5836insATATATATATATTTTTTTTTTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0023 a0001c0001t0004g0023	1	174	0.0057	28	c.-59 others(45): Show c.-59-5837_-59-5836insATATATATATATATATATATATATTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107782939	T T	TGATGGGA others(21): Show TGATGGGAGGTGCTGGTCTGAGTTAGCCA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03453.hp2 HG03516.hp2 HG02630.hp2 HG03453.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0022 a0001c0002t0010 a0001c0001t0001 a0001c0001t0022 a0001c0002t0010	a0001c0001t0001g0077 a0001c0001t0022g0014 a0001c0002t0010g0135 a0001c0001t0001g0077 a0001c0001t0022g0014 a0001c0002t0010g0135	3	248	0.0121	28	c.-59 others(47): Show c.-59-10554_-59-10553insTGGCTAACTCAGACCAGCACCTCCCA TC	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN10A_chr3_38691807_38821217	38737798	C C	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01106.hp2 HG01192.hp2 others(23): Show HG00597.hp2 HG01106.hp2 HG01192.hp2 HG01243.hp1 HG01516.hp1 HG01891.hp1 HG01928.hp1 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02109.hp2 HG02486.hp1 HG02630.hp1 HG02738.hp2 HG02809.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03704.hp1 NA18522.hp2 NA18952.hp2 NA18970.hp1 NA18982.hp2 NA18989.hp2 NA19003.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0003 a0001c0006 a0001c0007 others(9): Show a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0017 a0001c0019 a0001c0052 a0001c0066 a0002c0001 a0002c0014 a0002c0040 a0010c0026	a0001c0003t0001 a0001c0003t0002 a0001c0006t0002 others(11): Show a0001c0003t0001 a0001c0003t0002 a0001c0006t0002 a0001c0007t0001 a0001c0007t0005 a0001c0008t0001 a0001c0017t0002 a0001c0019t0001 a0001c0052t0002 a0001c0066t0001 a0002c0001t0001 a0002c0014t0001 a0002c0040t0001 a0010c0026t0001	a0001c0003t0001g0025 a0001c0003t0001g0029 a0001c0003t0001g0242 others(23): Show a0001c0003t0001g0025 a0001c0003t0001g0029 a0001c0003t0001g0242 a0001c0003t0001g0298 a0001c0003t0001g0330 a0001c0003t0002g0098 a0001c0003t0002g0311 a0001c0006t0002g0137 a0001c0006t0002g0138 a0001c0006t0002g0158 a0001c0007t0001g0105 a0001c0007t0005g0006 a0001c0008t0001g0022 a0001c0008t0001g0115 a0001c0008t0001g0343 a0001c0017t0002g0283 a0001c0017t0002g0327 a0001c0019t0001g0026 a0001c0052t0002g0083 a0001c0066t0001g0189 a0002c0001t0001g0156 a0002c0001t0001g0200 a0002c0001t0001g0207 a0002c0014t0001g0050 a0002c0040t0001g0145 a0010c0026t0001g0148	26	152	0.1711	28	c.228 others(47): Show c.2280+1689_2280+1716dupAAGAAAGAAAGAAAGAAAGAAAGAAA GA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38737835	T T	TCTTTCTT others(21): Show TCTTTCTTTCTTTCTTTCTTTCTCTTCTC	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0001 a0001c0029t0001	a0001c0029t0001g0074 a0001c0029t0001g0074	1	365	0.0027	28	c.228 others(47): Show c.2280+1679_2280+1680insGAGAAGAGAAAGAAAGAAAGAAAGAA AG	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38738223	C C	CACCTGGC others(21): Show CACCTGGCCCTGAGATGGTCACATTGATT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0063 a0001c0003t0001g0063	1	370	0.0027	28	c.228 others(47): Show c.2280+1291_2280+1292insAATCAATGTGACCATCTCAGGGCCAG GT	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38746063	G G	GTGTATAT others(21): Show GTGTATATATATATGTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00544.hp2 others(18): Show HG00323.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp2 HG02132.hp2 HG04204.hp2 NA18940.hp2 NA18943.hp1 NA18947.hp2 NA18955.hp1 NA18963.hp1 NA18978.hp1 NA18984.hp2 NA18990.hp2 NA19000.hp2 NA19002.hp1 NA19057.hp1 NA19062.hp1 NA19070.hp2 NA19078.hp2 NA19087.hp1	a0002 a0013 a0028 others(1): Show a0002 a0013 a0028 a0031	a0002c0001 a0002c0015 a0002c0024 others(3): Show a0002c0001 a0002c0015 a0002c0024 a0013c0041 a0028c0044 a0031c0065	a0002c0001t0001 a0002c0001t0002 a0002c0015t0001 others(4): Show a0002c0001t0001 a0002c0001t0002 a0002c0015t0001 a0002c0024t0001 a0013c0041t0001 a0028c0044t0001 a0031c0065t0001	a0002c0001t0001g0156 a0002c0001t0001g0183 a0002c0001t0001g0190 others(18): Show a0002c0001t0001g0156 a0002c0001t0001g0183 a0002c0001t0001g0190 a0002c0001t0001g0197 a0002c0001t0001g0202 a0002c0001t0001g0204 a0002c0001t0001g0225 a0002c0001t0001g0232 a0002c0001t0001g0233 a0002c0001t0001g0234 a0002c0001t0001g0235 a0002c0001t0001g0249 a0002c0001t0001g0309 a0002c0001t0001g0345 a0002c0001t0002g0192 a0002c0015t0001g0227 a0002c0015t0001g0317 a0002c0024t0001g0210 a0013c0041t0001g0191 a0028c0044t0001g0187 a0031c0065t0001g0228	21	195	0.1077	28	c.186 others(47): Show c.1868-3535_1868-3534insTATATATACACACACATATATATATA CA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	13/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38746100	T T	TATATATA others(21): Show TATATATATATATATATATATATATCTAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02976.hp1 HG02572.hp2 HG02976.hp1	a0001 a0010 a0001 a0010	a0001c0003 a0010c0026 a0001c0003 a0010c0026	a0001c0003t0002 a0010c0026t0001 a0001c0003t0002 a0010c0026t0001	a0001c0003t0002g0133 a0010c0026t0001g0148 a0001c0003t0002g0133 a0010c0026t0001g0148	2	111	0.0180	28	c.186 others(47): Show c.1868-3572_1868-3571insCTAGATATATATATATATATATATAT AT	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	13/27			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38995799	G G	GTCTATCT others(21): Show GTCTATCTATCTATCTGTCTGTCTATCTA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02723.hp2 HG01255.hp1 HG02723.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0001 a0003c0004t0001 a0001c0002t0001 a0003c0004t0001	a0001c0002t0001g0235 a0003c0004t0001g0233 a0001c0002t0001g0235 a0003c0004t0001g0233	2	275	0.0073	28	c.-27 others(49): Show c.-279-35377_-279-35376insTAGATAGACAGACAGATAGATAGA TAGA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38995799	G G	GTCTATCT others(21): Show GTCTATCTATCTATCTGTCTGTCTGTCTA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp2 HG01243.hp2 HG02486.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0247 a0001c0005t0001g0248 a0001c0005t0001g0247 a0001c0005t0001g0248	2	275	0.0073	28	c.-27 others(49): Show c.-279-35377_-279-35376insTAGACAGACAGACAGATAGATAGA TAGA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38995799	G G	GTCTATCT others(21): Show GTCTATCTATCTGTCTGTCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0015 a0008c0017t0015	a0008c0017t0015g0208 a0008c0017t0015g0208	1	274	0.0036	28	c.-27 others(49): Show c.-279-35377_-279-35376insTAGATAGATAGACAGACAGATAGA TAGA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38995799	G G	GTCTATCT others(21): Show GTCTATCTATCTGTCTGTCTGTCTGTCTA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0010 a0001c0007t0010	a0001c0007t0010g0312 a0001c0007t0010g0312	1	274	0.0036	28	c.-27 others(49): Show c.-279-35377_-279-35376insTAGACAGACAGACAGACAGATAGA TAGA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar

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