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
SARDH_chr9_133658560_133743352	133668454	T T	TCCCCTCA others(27): Show TCCCCTCACCCTCTCTCTCCCTCACCCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0260 a0002c0002t0001g0260	1	193	0.0052	34	c.249 others(53): Show c.2496-1585_2496-1584insGAGAGGGAGGGTGAGGGAGAGAGAGG GTGAGGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668711	T T	TCCCCTCA others(27): Show TCCCCTCATCCTCCCTCTCCCTCACCCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0002 a0003c0013t0002	a0003c0013t0002g0054 a0003c0013t0002g0054	1	187	0.0053	34	c.249 others(53): Show c.2496-1842_2496-1841insGAGAGGGAGGGTGAGGGAGAGGGAGG ATGAGGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669235	T T	TCCCTCAC others(27): Show TCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18522.hp1 NA20129.hp1 HG02109.hp1 NA18522.hp1 NA20129.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0003 a0007c0036 a0001c0001 a0003c0003 a0007c0036	a0001c0001t0001 a0003c0003t0001 a0007c0036t0001 a0001c0001t0001 a0003c0003t0001 a0007c0036t0001	a0001c0001t0001g0256 a0003c0003t0001g0238 a0007c0036t0001g0058 a0001c0001t0001g0256 a0003c0003t0001g0238 a0007c0036t0001g0058	3	196	0.0153	34	c.249 others(53): Show c.2495+1315_2495+1348dupGAGAGGGAGGGTGAGGGGAGAGGGAG GGTGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SASH1_chr6_148337838_148557044	148368768	G G	GTGCGCAC others(27): Show GTGCGCACGCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp1 HG01071.hp2 others(8): Show HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01192.hp1 HG01981.hp2 HG02698.hp2 NA18946.hp1 NA18999.hp2 NA19063.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0005 others(1): Show a0001c0001 a0002c0002 a0002c0005 a0003c0008	a0001c0001t0009 a0001c0001t0010 a0002c0002t0001 others(4): Show a0001c0001t0009 a0001c0001t0010 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0005t0006 a0003c0008t0001	a0001c0001t0009g0003 a0001c0001t0009g0004 a0001c0001t0009g0011 others(8): Show a0001c0001t0009g0003 a0001c0001t0009g0004 a0001c0001t0009g0011 a0001c0001t0010g0144 a0002c0002t0001g0111 a0002c0002t0001g0303 a0002c0002t0002g0014 a0002c0002t0007g0248 a0002c0005t0006g0013 a0003c0008t0001g0063 a0003c0008t0001g0245	11	251	0.0438	34	c.157 others(53): Show c.157-21366_157-21365insTGCGCACGCACACACACACACACACA CACACACA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19			chr6	TogoVar
SASH1_chr6_148337838_148557044	148368768	G G	GTGCGCAC others(27): Show GTGCGCACGCGCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0220 a0001c0007t0004g0220	1	241	0.0041	34	c.157 others(53): Show c.157-21366_157-21365insTGCGCACGCGCACACACACACACACA CACACACA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19			chr6	TogoVar
SASH1_chr6_148337838_148557044	148387625	T T	TTCCTTCC others(27): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0171 a0002c0005t0006g0171	1	320	0.0031	34	c.157 others(51): Show c.157-2508_157-2507insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148449078	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02717.hp2 HG01074.hp2 HG02717.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0002 a0001c0007 a0002c0002	a0001c0007t0005 a0002c0002t0001 a0001c0007t0005 a0002c0002t0001	a0001c0007t0005g0322 a0002c0002t0001g0111 a0001c0007t0005g0322 a0002c0002t0001g0111	2	119	0.0168	34	c.386 others(51): Show c.386+8686_386+8687insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH3_chrX_129774949_129800201	129789165	G G	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	254	0.0039	34	c.300 others(49): Show c.300+589_300+590insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	SASH3	ENSG00000122122.10	transcript	ENST00000356892.4	protein_coding	3/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
SAXO1_chr9_18922650_19038209	18938830	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0178 a0003c0003t0005g0178	1	165	0.0061	34	c.421 others(51): Show c.421+2806_421+2807insTACACACACACACACACACACATACACA CACACA	SAXO1	ENSG00000155875.15	transcript	ENST00000380534.9	protein_coding	3/3			chr9	TogoVar
SAXO1_chr9_18922650_19038209	18938832	G G	GTGTGTGT others(27): Show GTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03491.hp2 HG03492.hp2 HG02683.hp2 HG03491.hp2 HG03492.hp2	a0001 a0003 a0001 a0003	a0001c0028 a0003c0003 a0001c0028 a0003c0003	a0001c0028t0007 a0003c0003t0005 a0001c0028t0007 a0003c0003t0005	a0001c0028t0007g0286 a0003c0003t0005g0175 a0003c0003t0005g0176 a0001c0028t0007g0286 a0003c0003t0005g0175 a0003c0003t0005g0176	3	362	0.0083	34	c.421 others(51): Show c.421+2804_421+2805insTACACACACACACACACACACACATACA CACACA	SAXO1	ENSG00000155875.15	transcript	ENST00000380534.9	protein_coding	3/3			chr9	TogoVar
SBF2_chr11_9773668_10299219	9994577	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0067	1	139	0.0072	34	c.976 others(49): Show c.976-580_976-579insATATATATATATATATATATATATATATAT ATAT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	9/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10196866	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0166 a0001c0003t0001g0166	1	12	0.0833	34	c.56- others(49): Show c.56-2880_56-2879insAAAAAAAATATATATATATATATATATATA TATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10196866	A A	ATATATAT others(27): Show ATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0219 a0001c0001t0004g0219	1	12	0.0833	34	c.56- others(49): Show c.56-2880_56-2879insAAAAAAAAAAAAAATATATATATATATATA TATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBNO1_chr12_123284109_123369847	123297400	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	96	0.0104	34	c.403 others(51): Show c.4039+577_4039+578insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	31/31			chr12	TogoVar
SBSN_chr19_35518367_35533311	35520356	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 NA19011.hp1 NA19057.hp1 HG00621.hp1 NA19011.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0005 a0001c0003t0001g0008 a0001c0003t0001g0009 a0001c0002t0001g0005 a0001c0003t0001g0008 a0001c0003t0001g0009	3	369	0.0081	34	c.31 others(45): Show c.3153_*3154insTATATATATATATATATATATATATATATATATA	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		3010		chr19	TogoVar
SBSPON_chr8_73059543_73098172	73067589	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0024 a0004c0006t0024	a0004c0006t0024g0090 a0004c0006t0024g0090	1	359	0.0028	34	c.678 others(49): Show c.678-132_678-131insTATATATATATATATATATATATATATATA TATA	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCAF1_chr19_49637209_49663642	49659984	T T	TACACACA others(27): Show TACACACACACACATATACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 NA18522.hp1 NA18980.hp2 others(2): Show HG02683.hp1 NA18522.hp1 NA18980.hp2 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0002 a0001c0002t0002 a0001c0004t0002	a0001c0002t0002g0009 a0001c0002t0002g0022 a0001c0002t0002g0040 others(2): Show a0001c0002t0002g0009 a0001c0002t0002g0022 a0001c0002t0002g0040 a0001c0002t0002g0069 a0001c0004t0002g0006	5	154	0.0325	34	c.15 others(45): Show c.1585_*1586insACACACACACACATATACACACACACACACACAC	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1343		chr19	TogoVar
SCAF1_chr19_49637209_49663642	49659984	T T	TACACACA others(27): Show TACACACACACACATATATACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0011 a0001c0004t0002g0011	1	150	0.0067	34	c.15 others(45): Show c.1585_*1586insACACACACACACATATATACACACACACACACAC	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1343		chr19	TogoVar
SCAF8_chr6_154728416_154839221	154796389	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	63	0.0159	34	c.606 others(51): Show c.606+1253_606+1254insCTCTCTCTCTCTCTCTCTCTCTGTCTGT CTGTCT	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0293 a0001c0001t0005g0293	1	49	0.0204	34	c.98+ others(51): Show c.98+36510_98+36511insATATATATATATATATTTTTTTTTTTTT TTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA19084.hp2 NA18964.hp1 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0043 a0002c0002t0007 a0001c0001t0043 a0002c0002t0007	a0001c0001t0043g0284 a0002c0002t0007g0225 a0001c0001t0043g0284 a0002c0002t0007g0225	2	50	0.0400	34	c.98+ others(51): Show c.98+36510_98+36511insATATATATATATATATATATATTTTTTT TTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78460804	C C	CTTCTTTC others(27): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0318 a0001c0001t0003g0318	1	264	0.0038	34	c.852 others(51): Show c.852+1442_852+1443insTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAPER_chr15_76342904_76910340	76428866	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 NA19057.hp1 HG01070.hp2 NA19057.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0235 a0002c0002t0002g0298 a0002c0002t0002g0235 a0002c0002t0002g0298	2	77	0.0260	34	c.331 others(53): Show c.3311+5211_3311+5212insTATATATATATATATATATATATATA TATATATA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	26/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76652371	C C	CACACACA others(27): Show CACACACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0268 a0002c0002t0002g0268	1	24	0.0417	34	c.264 others(55): Show c.2645+13281_2645+13282insATATATATATATATATATATATAT ATATGTGTGT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31			chr15	TogoVar
SCARB1_chr12_124771856_124868864	124837594	A A	AAAAGAAA others(27): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0254 a0001c0002t0001g0254	1	120	0.0083	34	c.127 others(53): Show c.127-19888_127-19887insCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCART1_chr10_133448945_133474760	133460471	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02258.hp2 HG00741.hp1 HG02258.hp2	a0018 a0022 a0018 a0022	a0018c0031 a0022c0038 a0018c0031 a0022c0038	a0018c0031t0003 a0022c0038t0011 a0018c0031t0003 a0022c0038t0011	a0018c0031t0003g0122 a0022c0038t0011g0052 a0018c0031t0003g0122 a0022c0038t0011g0052	2	125	0.0160	34	c.196 others(51): Show c.1969+319_1969+320insATATATATATATATATATATATATATAT ATATAT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SCART1_chr10_133448945_133474760	133460496	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0004 a0004	a0004c0021 a0004c0021	a0004c0021t0003 a0004c0021t0003	a0004c0021t0003g0108 a0004c0021t0003g0108	1	417	0.0024	34	c.196 others(51): Show c.1969+327_1969+328insATATATATATATATATATATATATATTT TTTTTT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SCART1_chr10_133448945_133474760	133472333	T T	TGTTGAGT others(27): Show TGTTGAGTGTGGCATCTCCCTCCTGAGATCTAGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01891.hp2 HG02280.hp1 others(5): Show HG01069.hp2 HG01891.hp2 HG02280.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG03041.hp2 NA20300.hp2	a0004 a0014 a0004 a0014	a0004c0005 a0004c0020 a0004c0043 others(1): Show a0004c0005 a0004c0020 a0004c0043 a0014c0028	a0004c0005t0005 a0004c0020t0005 a0004c0043t0005 others(1): Show a0004c0005t0005 a0004c0020t0005 a0004c0043t0005 a0014c0028t0002	a0004c0005t0005g0164 a0004c0005t0005g0166 a0004c0020t0005g0030 others(3): Show a0004c0005t0005g0164 a0004c0005t0005g0166 a0004c0020t0005g0030 a0004c0020t0005g0163 a0004c0043t0005g0165 a0014c0028t0002g0038	8	395	0.0203	34	c.43 others(45): Show c.4365_*4366insGTTGAGTGTGGCATCTCCCTCCTGAGATCTAGTC	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding		2574		chr10	TogoVar
SCART1_chr10_133448945_133474760	133472934	G G	GTTGAGTG others(27): Show GTTGAGTGTGGCGTCTCCCTCCTGAGATCTGGTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0001 a0004c0015t0001	a0004c0015t0001g0001 a0004c0015t0001g0001	1	432	0.0023	34	c.49 others(45): Show c.4966_*4967insTTGAGTGTGGCGTCTCCCTCCTGAGATCTGGTCA	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding		3175		chr10	TogoVar
SCD5_chr4_82624539_82803796	82626122	G G	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAGAGAGAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	208	0.0048	34	c.52 others(45): Show c.5204_*5205insTTCTTTCTTTCTCTCTCTCTTTCTTTCTTTCTTT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding		3416		chr4	TogoVar
SCFD1_chr14_30617319_30740850	30625721	A A	ATACCTAT others(27): Show ATACCTATATAGGTATAGGTATATAGGTATATAGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00673.hp2 HG00735.hp1 others(2): Show HG00639.hp2 HG00673.hp2 HG00735.hp1 NA18747.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(2): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047	5	237	0.0211	34	c.62- others(49): Show c.62-2486_62-2485insCCTATATAGGTATAGGTATATAGGTATATA GGTA	SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
SCFD2_chr4_52867982_53371061	52869869	C C	CGTGGAAT others(27): Show CGTGGAATGGGCCTGTCGTGTGTGGAACATGAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0127 a0001c0003t0005g0127	1	162	0.0062	34	c.40 others(45): Show c.4099_*4100insACCTCATGTTCCACACACGACAGGCCCATTCCAC	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding		3112		chr4	TogoVar
SCFD2_chr4_52867982_53371061	52870966	A A	ACGAAGTG others(27): Show ACGAAGTGGAAGAGGTGGGATTGGAATCCAGCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0149 a0003c0008t0002g0149	1	162	0.0062	34	c.30 others(45): Show c.3002_*3003insATGGCTGGATTCCAATCCCACCTCTTCCACTTCG	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding		2015		chr4	TogoVar
SCFD2_chr4_52867982_53371061	53140392	A A	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp1 HG01346.hp2 others(7): Show HG00140.hp2 HG00735.hp1 HG01346.hp2 HG01515.hp2 HG03492.hp1 HG03669.hp1 NA18612.hp1 NA19088.hp1 NA19240.hp1 NA20905.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0007c0013	a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 a0001c0005t0001 a0001c0005t0004 a0001c0007t0001 a0007c0013t0001	a0001c0001t0001g0048 a0001c0001t0002g0059 a0001c0001t0002g0092 others(7): Show a0001c0001t0001g0048 a0001c0001t0002g0059 a0001c0001t0002g0092 a0001c0003t0003g0062 a0001c0005t0001g0026 a0001c0005t0001g0034 a0001c0005t0004g0030 a0001c0005t0004g0033 a0001c0007t0001g0036 a0007c0013t0001g0031	10	18	0.5556	34	c.156 others(53): Show c.1561+4940_1561+4941insATATATATATATATATATATATATAT ATATATTT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCG3_chr15_51676503_51726026	51704764	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18981.hp1 NA19001.hp1 NA18946.hp1 NA18981.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0258 a0001c0001t0005g0099 a0001c0001t0005g0100 a0001c0001t0001g0258 a0001c0001t0005g0099 a0001c0001t0005g0100	3	85	0.0353	34	c.120 others(53): Show c.1207+3551_1207+3552insTATATATATATATATATATATATATA TATATATA	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657199	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	372	0.0027	34	c.226 others(53): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATATAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG04115.hp1 HG01168.hp2 HG01169.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0322 a0001c0001t0001g0008 a0001c0001t0001g0322	3	50	0.0600	34	c.226 others(53): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATGTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB1C1_chr11_188078_199575	196541	G G	GGGGGACC others(27): Show GGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00733.hp2 others(9): Show HG00140.hp2 HG00280.hp2 HG00733.hp2 HG00735.hp1 HG01070.hp2 HG01081.hp1 HG01496.hp2 HG01891.hp2 HG01943.hp2 HG01981.hp2 HG01993.hp1 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	12	214	0.0561	34	c.20 others(45): Show c.2091_*2092insGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACA	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1967		chr11	TogoVar
SCGB1C2_chr17_132569_144067	136878	T T	TGGGGGGT others(27): Show TGGGGGGTTGAACCCCAGGATAGCAACCCCAAGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00738.hp2 HG01070.hp2 others(61): Show HG00639.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02004.hp2 HG02027.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03486.hp2 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03834.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18940.hp2 NA18943.hp1 NA18961.hp2 NA18982.hp2 NA19030.hp1 NA19030.hp2 NA19066.hp1 NA19068.hp2 NA19072.hp2 NA19079.hp2 NA19090.hp1 NA20300.hp2 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0009 a0001c0001t0004g0003 a0002c0002t0001g0003 others(6): Show a0001c0001t0001g0009 a0001c0001t0004g0003 a0002c0002t0001g0003 a0002c0002t0001g0013 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0027 a0004c0004t0001g0015	64	402	0.1592	34	c.-71 others(43): Show c.-713_-712insGGGGGGTTGAACCCCAGGATAGCAACCCCAAGCC	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		690		chr17	TogoVar
SCGB2B2_chr19_34585644_34682159	34608660	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0087 a0001c0001t0066g0087	1	22	0.0455	34	c.-20 others(57): Show c.-2031-12067_-2031-12066insATATATATATATATATATATAT ATATATATATAT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCGB2B2_chr19_34585644_34682159	34608684	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0336 a0001c0001t0032g0336	1	355	0.0028	34	c.-20 others(57): Show c.-2031-12091_-2031-12090insGTATATATATATATATATATAT ATATATATATAT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTGT others(27): Show GTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0023 a0001c0001t0016g0023	1	166	0.0060	34	c.354 others(49): Show c.354+696_354+697insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01515.hp2 HG01978.hp2 HG01123.hp1 HG01515.hp2 HG01978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0091 a0002c0002t0169 a0002c0002t0003 a0002c0002t0091 a0002c0002t0169	a0002c0002t0003g0294 a0002c0002t0091g0292 a0002c0002t0169g0293 a0002c0002t0003g0294 a0002c0002t0091g0292 a0002c0002t0169g0293	3	168	0.0179	34	c.354 others(49): Show c.354+706_354+707insTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01346.hp2 HG01496.hp1 others(11): Show HG00323.hp1 HG01346.hp2 HG01496.hp1 HG02258.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG06807.hp1 NA18942.hp2 NA18947.hp1 NA18966.hp1 NA19002.hp2 NA19066.hp1 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0008 a0002c0002t0012 a0002c0002t0078 a0002c0002t0155 a0002c0002t0156	a0002c0002t0001g0308 a0002c0002t0001g0311 a0002c0002t0002g0239 others(11): Show a0002c0002t0001g0308 a0002c0002t0001g0311 a0002c0002t0002g0239 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0320 a0002c0002t0002g0322 a0002c0002t0003g0305 a0002c0002t0005g0327 a0002c0002t0008g0058 a0002c0002t0012g0286 a0002c0002t0078g0321 a0002c0002t0155g0307 a0002c0002t0156g0306	14	179	0.0782	34	c.354 others(49): Show c.354+706_354+707insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0096 a0001c0005t0011g0096	1	174	0.0057	34	c.-59 others(51): Show c.-59-5837_-59-5836insATATATATATATATATATTTTTTTTTTT TTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0011 a0002c0014t0011	a0002c0014t0011g0029 a0002c0014t0011g0029	1	174	0.0057	34	c.-59 others(51): Show c.-59-5837_-59-5836insATATATATATATATATATATTTTTTTTT TTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN10A_chr3_38691807_38821217	38737832	C C	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG04228.hp1 NA18961.hp1 HG03710.hp1 HG04228.hp1 NA18961.hp1	a0004 a0005 a0004 a0005	a0004c0005 a0005c0013 a0004c0005 a0005c0013	a0004c0005t0001 a0005c0013t0001 a0004c0005t0001 a0005c0013t0001	a0004c0005t0001g0069 a0004c0005t0001g0070 a0005c0013t0001g0076 a0004c0005t0001g0069 a0004c0005t0001g0070 a0005c0013t0001g0076	3	279	0.0108	34	c.228 others(53): Show c.2280+1682_2280+1683insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38746063	G G	GTGTATAT others(27): Show GTGTATATATATATGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02523.hp1 HG02738.hp1 others(6): Show HG02257.hp2 HG02523.hp1 HG02738.hp1 NA18950.hp2 NA18960.hp1 NA18967.hp2 NA18981.hp1 NA19012.hp1 NA19088.hp1	a0002 a0002	a0002c0001 a0002c0023 a0002c0024 a0002c0001 a0002c0023 a0002c0024	a0002c0001t0001 a0002c0023t0001 a0002c0024t0001 a0002c0001t0001 a0002c0023t0001 a0002c0024t0001	a0002c0001t0001g0059 a0002c0001t0001g0066 a0002c0001t0001g0067 others(6): Show a0002c0001t0001g0059 a0002c0001t0001g0066 a0002c0001t0001g0067 a0002c0001t0001g0184 a0002c0001t0001g0196 a0002c0001t0001g0224 a0002c0001t0001g0347 a0002c0023t0001g0064 a0002c0024t0001g0182	9	183	0.0492	34	c.186 others(53): Show c.1868-3535_1868-3534insTATATATATATATACACACACATATA TATATACA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	13/27			chr3	TogoVar
SCN2A_chr2_165234414_165397304	165291528	C C	CTTTCTTT others(27): Show CTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00733.hp2 others(9): Show HG00099.hp1 HG00438.hp2 HG00733.hp2 HG00738.hp1 HG02129.hp1 HG02698.hp1 HG02735.hp1 NA18944.hp2 NA18948.hp2 NA18953.hp2 NA18971.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011	a0001c0001t0002g0026 a0001c0001t0002g0128 a0001c0001t0002g0156 others(9): Show a0001c0001t0002g0026 a0001c0001t0002g0128 a0001c0001t0002g0156 a0001c0001t0002g0168 a0001c0001t0002g0181 a0001c0001t0002g0234 a0001c0001t0002g0242 a0001c0001t0002g0302 a0001c0001t0002g0334 a0001c0001t0009g0230 a0001c0001t0010g0165 a0001c0001t0011g0338	12	291	0.0412	34	c.-51 others(51): Show c.-51-4245_-51-4244insTTTCTTTTCTTTCTTTCTTTCTTTCTTT CTTCCT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26			chr2	TogoVar
SCN3B_chr11_123624188_123659624	123632721	G G	GAGGTTGC others(27): Show GAGGTTGCAGTGAGCCGAGATCACACCACTGCACT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0039 a0002c0005t0039	a0002c0005t0039g0111 a0002c0005t0039g0111	1	448	0.0022	34	c.10 others(45): Show c.1044_*1077dupAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCT	SCN3B	ENSG00000166257.10	transcript	ENST00000299333.8	protein_coding	7/7	1421		chr11	TogoVar

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