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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RYR1_chr19_38428691_38592564	38590381	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0085 a0001c0085	a0001c0085t0001 a0001c0085t0001	a0001c0085t0001g0185 a0001c0085t0001g0185	1	216	0.0046	-23	c.29 others(34): Show c.2962_*2984delAAAAAAAAAAAAAATATATATAT		RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding					2818		chr19	TogoVar
RYR1_chr19_38428691_38592564	38590387	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01106.hp1 HG01175.hp2 others(1): Show HG01070.hp1 HG01106.hp1 HG01175.hp2 HG03942.hp1	a0001 a0009 a0013 a0001 a0009 a0013	a0001c0019 a0001c0105 a0009c0104 others(1): Show a0001c0019 a0001c0105 a0009c0104 a0013c0048	a0001c0019t0002 a0001c0105t0001 a0009c0104t0001 others(1): Show a0001c0019t0002 a0001c0105t0001 a0009c0104t0001 a0013c0048t0001	a0001c0019t0002g0217 a0001c0105t0001g0075 a0009c0104t0001g0011 others(1): Show a0001c0019t0002g0217 a0001c0105t0001g0075 a0009c0104t0001g0011 a0013c0048t0001g0070	4	213	0.0188	-23	c.29 others(34): Show c.2968_*2990delAAAAAAAATATATATATATATAT		RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding					2824		chr19	TogoVar
RYR2_chr1_237037184_237838988	237056594	CAGCACTG others(16): Show CAGCACTGCACCTGTGAGGACTGG	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02486.hp1 HG02559.hp2 others(8): Show HG01099.hp2 HG02486.hp1 HG02559.hp2 HG02922.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 NA19043.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0008 others(8): Show a0001c0002 a0001c0004 a0001c0008 a0001c0010 a0001c0018 a0001c0019 a0001c0028 a0001c0048 a0002c0025 a0002c0031 a0002c0035	a0001c0002t0023 a0001c0004t0027 a0001c0008t0039 others(8): Show a0001c0002t0023 a0001c0004t0027 a0001c0008t0039 a0001c0010t0026 a0001c0018t0029 a0001c0019t0019 a0001c0028t0007 a0001c0048t0001 a0002c0025t0037 a0002c0031t0022 a0002c0035t0018	a0001c0002t0023g0059 a0001c0004t0027g0005 a0001c0008t0039g0002 others(8): Show a0001c0002t0023g0059 a0001c0004t0027g0005 a0001c0008t0039g0002 a0001c0010t0026g0051 a0001c0018t0029g0041 a0001c0019t0019g0035 a0001c0028t0007g0062 a0001c0048t0001g0007 a0002c0025t0037g0003 a0002c0031t0022g0056 a0002c0035t0018g0010	11	63	0.1746	-23	c.48+ others(40): Show c.48+14051_48+14073delCACTGCACCTGTGAGGACTGGAG		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104					INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33336447	AGAGAGAG others(16): Show AGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02896.hp2 HG03225.hp2 others(4): Show HG02622.hp2 HG02896.hp2 HG03225.hp2 HG03471.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0044	a0001c0010 a0001c0083 a0002c0087 others(4): Show a0001c0010 a0001c0083 a0002c0087 a0003c0078 a0005c0022 a0005c0029 a0044c0074	a0001c0010t0001 a0001c0083t0001 a0002c0087t0001 others(4): Show a0001c0010t0001 a0001c0083t0001 a0002c0087t0001 a0003c0078t0003 a0005c0022t0002 a0005c0029t0001 a0044c0074t0002	a0001c0010t0001g0142 a0001c0083t0001g0143 a0002c0087t0001g0039 others(4): Show a0001c0010t0001g0142 a0001c0083t0001g0143 a0002c0087t0001g0039 a0003c0078t0003g0024 a0005c0022t0002g0147 a0005c0029t0001g0075 a0044c0074t0002g0148	7	139	0.0504	-23	c.51+ others(40): Show c.51+25352_51+25374delGAGAGAGAGAGAGAGAGAGAGAG		RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103						chr15	TogoVar
RYR3_chr15_33305967_33871102	33336451	AGAGAGAG others(16): Show AGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02809.hp2 HG01070.hp1 HG01071.hp2 HG02809.hp2	a0001 a0012 a0001 a0012	a0001c0046 a0012c0011 a0001c0046 a0012c0011	a0001c0046t0011 a0012c0011t0009 a0001c0046t0011 a0012c0011t0009	a0001c0046t0011g0066 a0012c0011t0009g0067 a0012c0011t0009g0068 a0001c0046t0011g0066 a0012c0011t0009g0067 a0012c0011t0009g0068	3	146	0.0205	-23	c.51+ others(40): Show c.51+25356_51+25378delGAGAGAGAGAGAGAGAGAGAGAG		RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103						chr15	TogoVar
SAA1_chr11_18261264_18274967	18265030	AGAAGAAG others(16): Show AGAAGAAGGGAGGAAGAAAAGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	1	440	0.0023	-23	c.-12 others(34): Show c.-1270_-1248delGAAGAAGGGAGGAAGAAAAGAAG		SAA1	ENSG00000173432.13	transcript	ENST00000356524.9	protein_coding					1233		chr11	TogoVar
SAMD10_chr20_63969116_63984642	63970757	TCCTTCCC others(16): Show TCCTTCCCTCCCTTCTCTTCCTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	340	0.0029	-23	c.47 others(34): Show c.4730_*4752delGAAGGAAGAGAAGGGAGGGAAGG		SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding					3358		chr20	TogoVar
SAMD15_chr14_77372379_77397163	77372907	TATATATA others(16): Show TATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01517.hp1 HG01099.hp1 HG01517.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0038 a0002c0002t0002g0124 a0002c0002t0002g0038 a0002c0002t0002g0124	2	224	0.0089	-23	c.-45 others(34): Show c.-4511_-4489delATATATATATATATATATATATA		SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding					4471		chr14	TogoVar
SAMD15_chr14_77372379_77397163	77372934	ATATATAT others(16): Show ATATATATATATATATATATTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0088 a0002c0004t0004g0088	1	300	0.0033	-23	c.-44 others(34): Show c.-4484_-4462delTATATATATATATATATATTTTT		SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding					4444		chr14	TogoVar
SAP25_chr7_100567228_100578900	100570843	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	112	0.0089	-23	c.14 others(34): Show c.1421_*1443delTTTTTTTTTTTTTTTTTTTTTTT		SAP25	ENSG00000205307.12	transcript	ENST00000622764.3	protein_coding					1384		chr7	TogoVar
SARDH_chr9_133658560_133743352	133668383	GCCTCCCT others(16): Show GCCTCCCTCTCCCTCTCCCTTCAC	G G	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0173 a0001c0007t0001g0173	1	242	0.0041	-23	c.249 others(42): Show c.2496-1536_2496-1514delGTGAAGGGAGAGGGAGAGGGAGG		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20						chr9	TogoVar
SARDH_chr9_133658560_133743352	133668471	CCCCTCGC others(16): Show CCCCTCGCCCTCCCTCTCCCCTCA	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03453.hp2 HG04204.hp2 HG02809.hp1 HG03453.hp2 HG04204.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0014 a0003c0061 a0004c0023 a0002c0014 a0003c0061 a0004c0023	a0002c0014t0001 a0003c0061t0001 a0004c0023t0003 a0002c0014t0001 a0003c0061t0001 a0004c0023t0003	a0002c0014t0001g0228 a0003c0061t0001g0223 a0004c0023t0003g0004 a0002c0014t0001g0228 a0003c0061t0001g0223 a0004c0023t0003g0004	3	245	0.0122	-23	c.249 others(42): Show c.2496-1624_2496-1602delTGAGGGGAGAGGGAGGGCGAGGG		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20						chr9	TogoVar
SARDH_chr9_133658560_133743352	133668717	ACCCTCCC others(16): Show ACCCTCCCTCTCCCCTTACCCTCC	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0002 a0002c0020t0002	a0002c0020t0002g0205 a0002c0020t0002g0205	1	253	0.0040	-23	c.249 others(42): Show c.2495+1844_2496-1848delGGAGGGTAAGGGGAGAGGGAGGG		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20						chr9	TogoVar
SASH3_chrX_129774949_129800201	129789145	GAAAGAAA others(16): Show GAAAGAAAGAAAGAAAGAAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18972.hp1 HG00621.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	2	292	0.0068	-23	c.300 others(38): Show c.300+572_300+594delGAAAGAAAGAAAGAAAGAGAAAA		SASH3	ENSG00000122122.10	transcript	ENST00000356892.4	protein_coding	3/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
SAT1_chrX_23778173_23791210	23781874	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG03130.hp1 NA18991.hp1 others(3): Show HG01070.hp1 HG03130.hp1 NA18991.hp1 NA18991.hp2 NA19007.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0016 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0022	6	31	0.1935	-23	c.-14 others(34): Show c.-1477_-1455delAAAAAAAAAAAAAAAAAAAAAAA		SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding					1298		chrX	TogoVar
SBF2_chr11_9773668_10299219	9967970	TCTATATA others(16): Show TCTATATATATATATATATATAAA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18973.hp2 NA19012.hp2 HG00609.hp2 NA18973.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0076 a0001c0001t0003g0075 a0001c0001t0003g0107 a0001c0001t0001g0076 a0001c0001t0003g0075 a0001c0001t0003g0107	3	222	0.0135	-23	c.160 others(40): Show c.1600+348_1600+370delTTTATATATATATATATATATAG		SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	14/39						chr11	TogoVar
SBF2_chr11_9773668_10299219	10109691	CCACATAA others(16): Show CCACATAACATTATGTACTAGAAG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0129 a0002c0002t0004g0129	1	222	0.0045	-23	c.142 others(42): Show c.142-66733_142-66711delCTTCTAGTACATAATGTTATGTG		SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	2/39						chr11	TogoVar
SBF2_chr11_9773668_10299219	10179364	AACAAAAA others(16): Show AACAAAAAACAAAAACAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02683.hp1 HG03831.hp2 HG01109.hp2 HG02683.hp1 HG03831.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0002 a0001c0001t0004 a0004c0006t0004 a0001c0001t0002 a0001c0001t0004 a0004c0006t0004	a0001c0001t0002g0221 a0001c0001t0004g0219 a0004c0006t0004g0218 a0001c0001t0002g0221 a0001c0001t0004g0219 a0004c0006t0004g0218	3	222	0.0135	-23	c.141 others(42): Show c.141+14515_141+14537delGTTTTTTTGTTTTTGTTTTTTGT		SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	2/39						chr11	TogoVar
SBF2_chr11_9773668_10299219	10241321	TCTGGCCT others(16): Show TCTGGCCTGGGTAACAGAGCGAGA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01346.hp2 HG01943.hp2 others(9): Show HG01109.hp1 HG01346.hp2 HG01943.hp2 HG02572.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02922.hp1 HG03209.hp2 HG03453.hp1 NA18522.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0005 a0007c0009 a0001c0001 a0001c0005 a0007c0009	a0001c0001t0002 a0001c0001t0005 a0001c0001t0018 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0018 a0001c0005t0001 a0001c0005t0009 a0007c0009t0001	a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0005g0190 others(9): Show a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0005g0190 a0001c0001t0005g0203 a0001c0001t0018g0222 a0001c0005t0001g0195 a0001c0005t0001g0201 a0001c0005t0001g0202 a0001c0005t0009g0198 a0001c0005t0009g0204 a0007c0009t0001g0197 a0007c0009t0001g0199	12	222	0.0541	-23	c.56- others(40): Show c.56-47357_56-47335delTCTCGCTCTGTTACCCAGGCCAG		SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39						chr11	TogoVar
SBF2_chr11_9773668_10299219	10254900	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03139.hp1 HG02486.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0176 a0001c0001t0003g0177	2	5	0.4000	-23	c.55+ others(40): Show c.55+39092_55+39114delTTTTTTTTTTTTTTTTTTTTTTT		SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39						chr11	TogoVar
SBK2_chr19_55523611_55542133	55533659	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	4	0.2500	-23	c.254 others(40): Show c.254-2337_254-2315delTTTTTTTTTTTTTTTTTTTTTTT		SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding	2/3						chr19	TogoVar
SBNO1_chr12_123284109_123369847	123338889	CCCCGACA others(16): Show CCCCGACACACACACACACACACG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp1 HG02818.hp1 others(1): Show HG01884.hp1 HG02451.hp1 HG02818.hp1 HG03516.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0015 a0001c0005t0016 a0001c0005t0015 a0001c0005t0016	a0001c0005t0015g0204 a0001c0005t0015g0205 a0001c0005t0015g0206 others(1): Show a0001c0005t0015g0204 a0001c0005t0015g0205 a0001c0005t0015g0206 a0001c0005t0016g0096	4	258	0.0155	-23	c.651 others(40): Show c.651+2076_651+2098delCGTGTGTGTGTGTGTGTGTCGGG		SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	5/31						chr12	TogoVar
SCAF1_chr19_49637209_49663642	49660005	ACACACAC others(16): Show ACACACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0002 a0001c0003t0002g0002	1	380	0.0026	-23	c.16 others(34): Show c.1607_*1629delCACACACACACACACACACACAC		SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding					1364		chr19	TogoVar
SCAI_chr9_124937608_125148528	125004759	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG03225.hp2 HG01256.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0125 a0001c0001t0002g0079 a0001c0001t0002g0125	2	293	0.0068	-23	c.862 others(40): Show c.862-1212_862-1190delAAATATATATATATATATATATA		SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	9/17						chr9	TogoVar
SCAI_chr9_124937608_125148528	125004763	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0078 a0001c0001t0028g0078	1	296	0.0034	-23	c.862 others(40): Show c.862-1216_862-1194delAAAAAAATATATATATATATATA		SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	9/17						chr9	TogoVar
SCAI_chr9_124937608_125148528	125004771	ATATATAT others(16): Show ATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0136 a0001c0001t0037g0136	1	295	0.0034	-23	c.862 others(40): Show c.862-1224_862-1202delAAAAAAAAAAAAAAATATATATA		SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	9/17						chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78469910	AAACAAAA others(16): Show AAACAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00741.hp2 HG01167.hp1 others(31): Show HG00733.hp1 HG00741.hp2 HG01167.hp1 HG01243.hp2 HG02055.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 NA18522.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 others(6): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0017 a0001c0001t0023 a0001c0001t0026 a0001c0001t0031 a0001c0002t0011 a0002c0003t0007	a0001c0001t0005g0146 a0001c0001t0005g0147 a0001c0001t0005g0148 others(31): Show a0001c0001t0005g0146 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0149 a0001c0001t0005g0150 a0001c0001t0005g0152 a0001c0001t0005g0153 a0001c0001t0005g0154 a0001c0001t0005g0155 a0001c0001t0005g0156 a0001c0001t0005g0260 a0001c0001t0005g0261 a0001c0001t0006g0006 a0001c0001t0006g0132 a0001c0001t0006g0133 a0001c0001t0006g0134 a0001c0001t0006g0135 a0001c0001t0006g0137 a0001c0001t0006g0138 a0001c0001t0006g0139 a0001c0001t0011g0161 a0001c0001t0017g0157 a0001c0001t0017g0158 a0001c0001t0023g0010 a0001c0001t0026g0175 a0001c0001t0031g0263 a0001c0002t0011g0021 a0002c0003t0007g0167 a0002c0003t0007g0168 a0002c0003t0007g0169 a0002c0003t0007g0170 a0002c0003t0007g0172 a0002c0003t0007g0173 a0002c0003t0007g0174	34	329	0.1033	-23	c.853 others(40): Show c.853-5588_853-5566delAAAAAAAAAAAAAAAAACAACAA		SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP3_chr1_155250981_155267360	155258317	CCTTTTTT others(16): Show CCTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	374	0.0027	-23	c.517 others(38): Show c.517+486_517+508delAAAAAAAAAAAAAAAAAAAAAAG		SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding	5/8						chr1	TogoVar
SCAMP3_chr1_155250981_155267360	155258318	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(198): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01175.hp1 HG01257.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18992.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0008 a0001c0009 others(2): Show a0001c0001 a0001c0008 a0001c0009 a0005c0010 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0008t0001 a0001c0009t0001 a0005c0010t0001 a0006c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(40): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0002g0080 a0001c0001t0003g0007 a0001c0001t0003g0019 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0004g0011 a0001c0001t0007g0033 a0001c0008t0001g0041 a0001c0009t0001g0042 a0005c0010t0001g0052 a0006c0007t0001g0047	201	261	0.7701	-23	c.517 others(38): Show c.517+485_517+507delAAAAAAAAAAAAAAAAAAAAAAA		SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding	5/8						chr1	TogoVar
SCAPER_chr15_76342904_76910340	76652272	AAATATAT others(16): Show AAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02735.hp1 HG02622.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0108 a0001c0001t0001g0035 a0001c0001t0001g0108	2	297	0.0067	-23	c.264 others(44): Show c.2645+13358_2645+13380delATATATATATATATATATATATT		SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31						chr15	TogoVar
SCAPER_chr15_76342904_76910340	76726333	CTTCAATA others(16): Show CTTCAATAAGGCTATTTTTAGAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01255.hp2 HG02109.hp1 HG01243.hp1 HG01255.hp2 HG02109.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0167 a0001c0010t0001g0168 a0001c0010t0001g0169 a0001c0010t0001g0167 a0001c0010t0001g0168 a0001c0010t0001g0169	3	310	0.0097	-23	c.216 others(42): Show c.2165+2239_2165+2261delTTTCTAAAAATAGCCTTATTGAA		SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	17/31						chr15	TogoVar
SCFD1_chr14_30617319_30740850	30619725	ATCGTTTA others(16): Show ATCGTTTATATGTCAGCCTATTTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00741.hp1 HG01074.hp2 others(27): Show HG00544.hp2 HG00741.hp1 HG01074.hp2 HG02015.hp1 HG02027.hp1 HG02129.hp2 HG02132.hp1 HG02523.hp1 HG02630.hp2 HG03098.hp2 HG03688.hp1 HG04115.hp2 NA18612.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18946.hp2 NA18947.hp1 NA18959.hp1 NA18968.hp1 NA18974.hp1 NA18978.hp2 NA18992.hp2 NA18999.hp2 NA19011.hp2 NA19012.hp1 NA19082.hp1 NA19088.hp2 NA19091.hp2 NA20905.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0014 a0006c0009 a0001c0001 a0001c0014 a0006c0009	a0001c0001t0001 a0001c0014t0001 a0006c0009t0001 a0001c0001t0001 a0001c0014t0001 a0006c0009t0001	a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0049 others(27): Show a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0014t0001g0069 a0006c0009t0001g0048	30	326	0.0920	-23	c.-26 others(34): Show c.-2613_-2591delTCGTTTATATGTCAGCCTATTTC		SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding					2593		chr14	TogoVar
SCG3_chr15_51676503_51726026	51709681	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	399	0.0025	-23	c.120 others(42): Show c.1208-3650_1208-3628delATATATATATATATATATATTTT		SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB1C2_chr17_132569_144067	136282	CCCCTAAC others(16): Show CCCCTAACCCCTAACCAACCCTAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0021 a0001c0005t0001g0021	1	401	0.0025	-23	c.-13 others(34): Show c.-1308_-1286delCCCTAACCCCTAACCAACCCTAA		SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding					1286		chr17	TogoVar
SCGB1C2_chr17_132569_144067	138273	AGAGGAGC others(16): Show AGAGGAGCTCTATGAGGGGACCTT	A A	frameshift_variant frameshift_variant	HIGH	HG02922.hp2 HG02922.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0002 a0005c0007t0001g0002	1	402	0.0025	-23	c.128 others(30): Show c.128_150delAGGAGCTCTATGAGGGGACCTTG	p.Glu others(4): Show p.Glu43fs	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding	2/3	150/435	128/288	43/95		INFO_REALIGN_3_PRIME	chr17	TogoVar
SCGN_chr6_25647215_25706783	25658002	CCTTTTTT others(16): Show CCTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0306 a0001c0001t0006g0306	1	242	0.0041	-23	c.154 others(40): Show c.154-3549_154-3527delCTTTTTTTTTTTTTTTTTTTTTT		SCGN	ENSG00000079689.15	transcript	ENST00000377961.3	protein_coding	2/10						chr6	TogoVar
SCGN_chr6_25647215_25706783	25658003	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0316 a0001c0001t0003g0316	1	130	0.0077	-23	c.154 others(40): Show c.154-3517_154-3495delTTTTTTTTTTTTTTTTTTTTTTT		SCGN	ENSG00000079689.15	transcript	ENST00000377961.3	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
SCHIP1_chr3_159268244_159902359	159867979	ATATATAT others(16): Show ATATATATATATAAATCAATGATT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA19058.hp1 HG02486.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0060 a0001c0001t0001g0007 a0001c0001t0001g0060	2	100	0.0200	-23	c.878 others(40): Show c.878+1723_878+1745delATATATATATAAATCAATGATTT		SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
SCIN_chr7_12565720_12665182	12657556	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0016 a0016	a0016c0016 a0016c0016	a0016c0016t0148 a0016c0016t0148	a0016c0016t0148g0168 a0016c0016t0148g0168	1	366	0.0027	-23	c.48 others(34): Show c.4843_*4865delATATATATATATATATTTTTTTT		SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16				4843	INFO_REALIGN_3_PRIME	chr7	TogoVar
SCML4_chr6_107697154_107829313	107778211	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0073 a0001c0001t0013g0073	1	239	0.0042	-23	c.-59 others(40): Show c.-59-5848_-59-5826delATATATATATATTTTTTTTTTTT		SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7						chr6	TogoVar
SCN10A_chr3_38691807_38821217	38719367	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA18948.hp1 NA18948.hp2 HG00733.hp2 NA18948.hp1 NA18948.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0001c0007 a0004c0005 a0001c0004 a0001c0007 a0004c0005	a0001c0004t0001 a0001c0007t0001 a0004c0005t0001 a0001c0004t0001 a0001c0007t0001 a0004c0005t0001	a0001c0004t0001g0353 a0001c0007t0001g0131 a0004c0005t0001g0217 a0001c0004t0001g0353 a0001c0007t0001g0131 a0004c0005t0001g0217	3	5	0.6000	-23	c.350 others(40): Show c.3508-564_3508-542delAAAAAAAAAAAAAAAAAAAAAAA		SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	20/27						chr3	TogoVar
SCN10A_chr3_38691807_38821217	38814696	TATGCTCA others(16): Show TATGCTCATTTATTATTACTATTA	T T	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0032 a0032	a0032c0042 a0032c0042	a0032c0042t0001 a0032c0042t0001	a0032c0042t0001g0149 a0032c0042t0001g0149	1	370	0.0027	-23	c.-33 others(40): Show c.-33+1318_-33+1340delTAATAGTAATAATAAATGAGCAT		SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	1/27						chr3	TogoVar
SCN11A_chr3_38840764_39056944	38963370	TATATATA others(16): Show TATATATATATATATATGATGGAG	T T	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18989.hp2 NA19010.hp1 NA18967.hp2 NA18989.hp2 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0047 a0001c0002t0004g0052 a0001c0002t0004g0055 a0001c0002t0004g0047 a0001c0002t0004g0052 a0001c0002t0004g0055	3	295	0.0102	-23	c.-27 others(42): Show c.-279-2970_-279-2948delCTCCATCATATATATATATATAT		SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29						chr3	TogoVar
SCN2A_chr2_165234414_165397304	165320301	CAGGGTAC others(16): Show CAGGGTACAGCTTCCCTCCTGACT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02630.hp2 HG02723.hp2 HG02451.hp2 HG02630.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0013 a0001c0001t0007 a0001c0001t0013	a0001c0001t0007g0187 a0001c0001t0007g0188 a0001c0001t0013g0040 a0001c0001t0007g0187 a0001c0001t0007g0188 a0001c0001t0013g0040	3	356	0.0084	-23	c.167 others(42): Show c.1672-2853_1672-2831delGGGTACAGCTTCCCTCCTGACTA		SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	11/26					INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165395270	ATTATATA others(16): Show ATTATATACTTATATAATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01515.hp1 HG02683.hp2 HG01243.hp2 HG01515.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0214 a0001c0001t0001g0229 a0001c0001t0001g0208 a0001c0001t0001g0214 a0001c0001t0001g0229	3	356	0.0084	-23	c.54 others(34): Show c.5447_*5469delTTATATACTTATATAATATATAT		SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding					2967		chr2	TogoVar
SCN5A_chr3_38543062_38654687	38543869	ACACAGGA others(16): Show ACACAGGAGCCAGCATCCGTCACT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0205 a0001c0001t0018g0205	1	338	0.0030	-23	c.64 others(34): Show c.6429_*6451delAGTGACGGATGCTGGCTCCTGTG		SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding					4192		chr3	TogoVar
SCN8A_chr12_51586233_51817864	51721099	ATATATAT others(16): Show ATATATATAATATTTATTTATTGT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG01071.hp2 others(52): Show HG00621.hp2 HG00735.hp1 HG01071.hp2 HG01099.hp2 HG01167.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02145.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03139.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03710.hp2 HG03834.hp2 NA18906.hp1 NA18906.hp2 NA18946.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18977.hp2 NA18979.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18999.hp2 NA19055.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19084.hp2 NA19091.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0015	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0020 a0001c0001t0021 a0001c0001t0029 a0001c0001t0030 a0001c0002t0001 a0001c0002t0007 a0001c0003t0013 a0001c0004t0008 a0001c0006t0001 a0001c0015t0005	a0001c0001t0002g0099 a0001c0001t0003g0021 a0001c0001t0003g0029 others(52): Show a0001c0001t0002g0099 a0001c0001t0003g0021 a0001c0001t0003g0029 a0001c0001t0003g0034 a0001c0001t0003g0041 a0001c0001t0003g0043 a0001c0001t0003g0046 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0154 a0001c0001t0005g0126 a0001c0001t0005g0127 a0001c0001t0005g0129 a0001c0001t0006g0130 a0001c0001t0020g0044 a0001c0001t0021g0144 a0001c0001t0029g0137 a0001c0001t0030g0142 a0001c0002t0001g0001 a0001c0002t0001g0012 a0001c0002t0001g0014 a0001c0002t0001g0016 a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0031 a0001c0002t0001g0055 a0001c0002t0001g0060 a0001c0002t0001g0132 a0001c0002t0001g0138 a0001c0002t0001g0148 a0001c0002t0001g0150 a0001c0002t0001g0153 a0001c0002t0001g0156 a0001c0002t0001g0177 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0007g0018 a0001c0002t0007g0028 a0001c0002t0007g0146 a0001c0002t0007g0184 a0001c0003t0013g0077 a0001c0003t0013g0105 a0001c0004t0008g0092 a0001c0004t0008g0093 a0001c0004t0008g0094 a0001c0004t0008g0096 a0001c0004t0008g0097 a0001c0004t0008g0098 a0001c0006t0001g0079 a0001c0006t0001g0190 a0001c0015t0005g0128	55	200	0.2750	-23	c.163 others(40): Show c.1636-438_1636-416delATATTTATTTATTGTTATATATA		SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	11/26					INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN9A_chr2_166190185_166380944	166201259	CTATACAT others(16): Show CTATACATATACATATACTATACA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03225.hp2 NA19240.hp1 HG01496.hp1 HG03225.hp2 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0007 a0001c0003 a0001c0005 a0001c0007	a0001c0003t0012 a0001c0005t0012 a0001c0007t0012 a0001c0003t0012 a0001c0005t0012 a0001c0007t0012	a0001c0003t0012g0261 a0001c0005t0012g0022 a0001c0007t0012g0018 a0001c0003t0012g0261 a0001c0005t0012g0022 a0001c0007t0012g0018	3	294	0.0102	-23	c.477 others(42): Show c.4775-1418_4775-1396delTGTATAGTATATGTATATGTATA		SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	26/26						chr2	TogoVar
SCNN1A_chr12_6341847_6380563	6369258	GCTGCCAC others(16): Show GCTGCCACCCTACACGCCTCCCTC	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	447	0.0022	-23	c.416 others(40): Show c.416+5087_416+5109delGAGGGAGGCGTGTAGGGTGGCAG		SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	2/12						chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6369273	GCCTCCCT others(16): Show GCCTCCCTCCTGCCACCCTACTCA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 NA18942.hp1 others(6): Show HG00423.hp1 HG00438.hp2 NA18942.hp1 NA18968.hp1 NA18983.hp1 NA18983.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0011 a0001c0001 a0002c0002 a0002c0011	a0001c0001t0001 a0002c0002t0001 a0002c0011t0001 a0001c0001t0001 a0002c0002t0001 a0002c0011t0001	a0001c0001t0001g0221 a0001c0001t0001g0310 a0001c0001t0001g0311 others(4): Show a0001c0001t0001g0221 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0361 a0002c0002t0001g0005 a0002c0002t0001g0247 a0002c0011t0001g0129	9	450	0.0200	-23	c.416 others(40): Show c.416+5072_416+5094delTGAGTAGGGTGGCAGGAGGGAGG		SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	2/12						chr12	TogoVar

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