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
SCN3B_chr11_123624188_123659624	123644800	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp1 NA20129.hp1 HG02258.hp1 HG02486.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0033 a0001c0001t0001 a0001c0001t0033	a0001c0001t0001g0211 a0001c0001t0033g0033 a0001c0001t0001g0211 a0001c0001t0033g0033	3	249	0.0120	-18	c.219 others(33): Show c.219+769_219+786delATATATATATATATATAT		SCN3B	ENSG00000166257.10	transcript	ENST00000299333.8	protein_coding	3/6						chr11	TogoVar
SCN4A_chr17_63933554_63977918	63942258	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0240 a0002c0001t0002g0240	1	124	0.0081	-18	c.428 others(35): Show c.4289-283_4289-266delACACACACACACACACAC		SCN4A	ENSG00000007314.12	transcript	ENST00000435607.3	protein_coding	23/23						chr17	TogoVar
SCN5A_chr3_38543062_38654687	38555057	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG06807.hp1 HG03130.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0019 a0002c0016 a0001c0019 a0002c0016	a0001c0019t0002 a0002c0016t0002 a0001c0019t0002 a0002c0016t0002	a0001c0019t0002g0043 a0002c0016t0002g0120 a0001c0019t0002g0043 a0002c0016t0002g0120	2	262	0.0076	-18	c.454 others(35): Show c.4543-526_4543-509delTATATATATATATATATA		SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27						chr3	TogoVar
SCN5A_chr3_38543062_38654687	38555091	ATATATAT others(11): Show ATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0059 a0002c0059	a0002c0059t0002 a0002c0059t0002	a0002c0059t0002g0034 a0002c0059t0002g0034	1	335	0.0030	-18	c.454 others(35): Show c.4542+547_4543-543delAAAATATATATATATATA		SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27						chr3	TogoVar
SCN7A_chr2_166398573_166499249	166414275	TATATATA others(11): Show TATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18612.hp1 NA18747.hp1 others(3): Show HG02129.hp2 NA18612.hp1 NA18747.hp1 NA18984.hp2 NA18995.hp1 NA19003.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0004c0004t0018	a0001c0001t0001g0218 a0001c0001t0002g0013 a0001c0001t0002g0222 others(2): Show a0001c0001t0001g0218 a0001c0001t0002g0013 a0001c0001t0002g0222 a0001c0001t0017g0223 a0004c0004t0018g0285	6	392	0.0153	-18	c.341 others(37): Show c.3415-1172_3415-1155delGTGTGTGTATATATATAT		SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25						chr2	TogoVar
SCN8A_chr12_51586233_51817864	51639879	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03017.hp1 HG02922.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0005g0086 a0001c0002t0001g0194 a0001c0001t0005g0086 a0001c0002t0001g0194	2	19	0.1053	-18	c.-54 others(37): Show c.-54-22864_-54-22847delTTTTTTTTTTTTTTTTTT		SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN9A_chr2_166190185_166380944	166222930	CAAAAAAA others(11): Show CAAAAAAAAAAACAACAAA	C C	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0063 a0001c0003t0015g0063	1	270	0.0037	-18	c.439 others(37): Show c.4398+3619_4398+3636delTTTGTTGTTTTTTTTTTT		SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	24/26						chr2	TogoVar
SCN9A_chr2_166190185_166380944	166311329	CCTATATA others(11): Show CCTATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02074.hp2 HG02258.hp1 others(9): Show HG01358.hp1 HG02074.hp2 HG02258.hp1 HG03540.hp2 NA18972.hp1 NA18973.hp1 NA18984.hp1 NA18994.hp1 NA19068.hp1 NA19081.hp1 NA19086.hp2 NA19090.hp1	a0001 a0004 a0007 others(2): Show a0001 a0004 a0007 a0008 a0026	a0001c0002 a0001c0003 a0001c0007 others(6): Show a0001c0002 a0001c0003 a0001c0007 a0001c0012 a0001c0017 a0004c0008 a0007c0051 a0008c0021 a0026c0042	a0001c0002t0006 a0001c0003t0001 a0001c0003t0002 others(8): Show a0001c0002t0006 a0001c0003t0001 a0001c0003t0002 a0001c0007t0001 a0001c0007t0005 a0001c0012t0001 a0001c0017t0001 a0004c0008t0019 a0007c0051t0004 a0008c0021t0001 a0026c0042t0001	a0001c0002t0006g0269 a0001c0003t0001g0208 a0001c0003t0001g0219 others(9): Show a0001c0002t0006g0269 a0001c0003t0001g0208 a0001c0003t0001g0219 a0001c0003t0002g0057 a0001c0007t0001g0266 a0001c0007t0005g0260 a0001c0012t0001g0264 a0001c0017t0001g0288 a0004c0008t0019g0002 a0007c0051t0004g0263 a0008c0021t0001g0262 a0026c0042t0001g0226	12	167	0.0719	-18	c.258 others(33): Show c.258+152_258+169delATATATATATATATATAG		SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	2/26						chr2	TogoVar
SCN9A_chr2_166190185_166380944	166311330	CTATATAT others(11): Show CTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01168.hp2 HG01169.hp2 others(3): Show HG01123.hp2 HG01168.hp2 HG01169.hp2 HG02056.hp2 HG02257.hp2 HG03831.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0022 others(1): Show a0001c0001 a0001c0004 a0001c0022 a0002c0015	a0001c0001t0002 a0001c0004t0001 a0001c0022t0008 others(1): Show a0001c0001t0002 a0001c0004t0001 a0001c0022t0008 a0002c0015t0004	a0001c0001t0002g0149 a0001c0001t0002g0155 a0001c0004t0001g0167 others(3): Show a0001c0001t0002g0149 a0001c0001t0002g0155 a0001c0004t0001g0167 a0001c0022t0008g0108 a0001c0022t0008g0185 a0002c0015t0004g0096	6	86	0.0698	-18	c.258 others(33): Show c.258+151_258+168delTATATATATATATATATA		SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	2/26						chr2	TogoVar
SCN9A_chr2_166190185_166380944	166370192	AAATAATA others(11): Show AAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp2 HG01168.hp1 others(14): Show HG00642.hp2 HG01081.hp2 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01928.hp1 HG01934.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02027.hp1 NA18948.hp2 NA18964.hp1 NA18973.hp1 NA19063.hp2 NA19064.hp1 NA19081.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0008 a0026	a0001c0003 a0001c0005 a0003c0013 others(5): Show a0001c0003 a0001c0005 a0003c0013 a0003c0033 a0005c0016 a0005c0068 a0008c0021 a0026c0042	a0001c0003t0001 a0001c0003t0002 a0001c0003t0027 others(7): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0027 a0001c0005t0001 a0003c0013t0003 a0003c0033t0003 a0005c0016t0003 a0005c0068t0003 a0008c0021t0001 a0026c0042t0001	a0001c0003t0001g0208 a0001c0003t0001g0213 a0001c0003t0001g0217 others(13): Show a0001c0003t0001g0208 a0001c0003t0001g0213 a0001c0003t0001g0217 a0001c0003t0001g0218 a0001c0003t0002g0242 a0001c0003t0027g0241 a0001c0005t0001g0223 a0003c0013t0003g0216 a0003c0033t0003g0220 a0005c0016t0003g0214 a0005c0016t0003g0221 a0005c0016t0003g0222 a0005c0016t0003g0225 a0005c0068t0003g0224 a0008c0021t0001g0001 a0026c0042t0001g0226	17	265	0.0642	-18	c.-51 others(35): Show c.-51+5487_-51+5504delATTATTATTATTATTATT		SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	1/26						chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23316571	ATCACCAC others(11): Show ATCACCACCATCACCATCT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01243.hp2 HG01884.hp2 others(22): Show HG01167.hp2 HG01243.hp2 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02622.hp1 HG02723.hp1 HG02886.hp1 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03516.hp2 HG03579.hp2 HG06807.hp1 NA18906.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0008 others(1): Show a0001c0001 a0001c0003 a0001c0008 a0002c0007	a0001c0001t0001 a0001c0001t0007 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0003t0001 a0001c0008t0001 a0001c0008t0003 a0002c0007t0001	a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 others(22): Show a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0108 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0007g0292 a0001c0003t0001g0288 a0001c0003t0001g0289 a0001c0003t0001g0290 a0001c0003t0001g0291 a0001c0003t0001g0294 a0001c0008t0001g0293 a0001c0008t0003g0091 a0002c0007t0001g0283 a0002c0007t0001g0287	25	304	0.0822	-18	c.-9+ others(35): Show c.-9+14152_-9+14169delTTCACCACCATCACCATC		SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23343491	GAAGGAAG others(11): Show GAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(30): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG00735.hp2 HG00738.hp2 HG01168.hp1 HG01169.hp1 HG01515.hp2 HG02027.hp1 HG02056.hp1 HG02615.hp1 HG02809.hp2 HG03017.hp1 HG03492.hp1 HG03492.hp2 HG03688.hp2 HG03710.hp2 HG04184.hp1 HG04199.hp1 NA18949.hp1 NA18966.hp2 NA18980.hp1 NA18983.hp2 NA19003.hp2 NA19007.hp1 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19081.hp1 NA19085.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0001c0013	a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 a0001c0013t0001	a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0015 others(30): Show a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0221 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0002t0001g0006 a0001c0002t0001g0023 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0057 a0001c0002t0001g0217 a0001c0002t0001g0305 a0001c0009t0001g0022 a0001c0013t0001g0064	33	303	0.1089	-18	c.-8- others(33): Show c.-8-5082_-8-5065delAAGGAAGGAAGGAAGGAA		SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23365543	GAGAAAGA others(11): Show GAGAAAGAAGGAAAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0131 a0001c0003t0001g0131	1	304	0.0033	-18	c.777 others(35): Show c.777-2304_777-2287delGGAAAGAGAAAGAAAGAA		SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1286119	CCTGGGGG others(11): Show CCTGGGGGCTGCTGTCCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG04184.hp1 HG04184.hp1	a0024 a0024	a0024c0037 a0024c0037	a0024c0037t0001 a0024c0037t0001	a0024c0037t0001g0094 a0024c0037t0001g0094	1	288	0.0035	-18	c.753 others(25): Show c.753_770delCTGGGGGCTGCTGTCCCT	p.Trp others(13): Show p.Trp252_Leu257del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	7/18	979/3050	753/2409	251/802			chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288204	TGTGTCTC others(11): Show TGTGTCTCTGCTCCGTCCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	265	0.0038	-18	c.166 others(35): Show c.1662+222_1662+239delGTGTCTCTGCTCCGTCCC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288275	CCCCGAGT others(11): Show CCCCGAGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp2 HG02717.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0230 a0001c0001t0001g0222 a0001c0001t0001g0230	2	248	0.0081	-18	c.166 others(35): Show c.1662+243_1662+260delAGTCTCTGCTCCGTCCCG		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288356	TCTGCTCC others(11): Show TCTGCTCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	270	0.0037	-18	c.166 others(35): Show c.1662+391_1662+408delCCTGCTCCGTCCCGTGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288641	CCCGTCCC others(11): Show CCCGTCCCGTGTCTCTGCT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0007 a0003c0004t0003g0007	1	173	0.0058	-18	c.166 others(35): Show c.1662+635_1662+652delTCTGCTCCGTCCCGTGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288706	AGTCTCTG others(11): Show AGTCTCTGCTCCGTCCCGT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	78	0.0128	-18	c.166 others(35): Show c.1662+709_1662+726delTCTGCTCCGTCCCGTGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288813	CCCCGAGT others(11): Show CCCCGAGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA18967.hp1 HG03688.hp1 NA18967.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0014 a0001c0001 a0009c0014	a0001c0001t0001 a0009c0014t0001 a0001c0001t0001 a0009c0014t0001	a0001c0001t0001g0159 a0009c0014t0001g0052 a0001c0001t0001g0159 a0009c0014t0001g0052	2	259	0.0077	-18	c.166 others(35): Show c.1662+781_1662+798delAGTCTCTGCTCCGTCCCG		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288876	TCTGCTCC others(11): Show TCTGCTCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0027 a0027	a0027c0027 a0027c0027	a0027c0027t0001 a0027c0027t0001	a0027c0027t0001g0022 a0027c0027t0001g0022	1	268	0.0037	-18	c.166 others(35): Show c.1662+857_1662+874delCCTGCTCCGTCCCGTGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289035	CCCCGAGT others(11): Show CCCCGAGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA19009.hp2 HG02015.hp2 NA19009.hp2	a0003 a0010 a0003 a0010	a0003c0004 a0010c0019 a0003c0004 a0010c0019	a0003c0004t0003 a0010c0019t0003 a0003c0004t0003 a0010c0019t0003	a0003c0004t0003g0134 a0010c0019t0003g0097 a0003c0004t0003g0134 a0010c0019t0003g0097	2	255	0.0078	-18	c.166 others(37): Show c.1662+1003_1662+1020delAGTCTCTGCTCCGTCCCG		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289093	CCCCGTGT others(11): Show CCCCGTGTCCCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0136 a0003c0004t0003g0136	1	265	0.0038	-18	c.166 others(37): Show c.1662+1083_1662+1100delCCTGCTCCGTCCCGTGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289138	TCTGCCCC others(11): Show TCTGCCCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02738.hp1 NA18961.hp1 others(1): Show HG01346.hp1 HG02738.hp1 NA18961.hp1 NA19057.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0003 a0001c0001t0001 a0003c0004t0003	a0001c0001t0001g0185 a0003c0004t0003g0005 a0003c0004t0003g0007 others(1): Show a0001c0001t0001g0185 a0003c0004t0003g0005 a0003c0004t0003g0007 a0003c0004t0003g0008	4	267	0.0150	-18	c.166 others(37): Show c.1662+1106_1663-1111delCCCGTCCCGTGTCCCTGC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289143	CCCGTCCC others(11): Show CCCGTCCCGTGTCCCTGCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0084 a0002c0002t0001g0084	1	152	0.0066	-18	c.166 others(37): Show c.1662+1114_1663-1103delGTGTCCCTGCTCCGTCCC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289263	CCCCGTGT others(11): Show CCCCGTGTCCCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0147 a0003c0004t0003g0147	1	257	0.0039	-18	c.166 others(35): Show c.1663-994_1663-977delTCCGTCCCGTGTCCCTGC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289277	TCCGTCCC others(11): Show TCCGTCCCGTGTCCCTGCC	T T	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0034	1	237	0.0042	-18	c.166 others(35): Show c.1663-981_1663-964delCCTGCCCCGTCCCGTGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289313	CCCGTCCC others(11): Show CCCGTCCCGTGTCCCTGCT	C C	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA18960.hp2 NA18998.hp1 others(2): Show HG01943.hp1 NA18960.hp2 NA18998.hp1 NA19004.hp2 NA19056.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0003c0004t0003 a0002c0002t0001 a0003c0004t0003	a0002c0002t0001g0014 a0002c0002t0001g0017 a0002c0002t0001g0027 others(2): Show a0002c0002t0001g0014 a0002c0002t0001g0017 a0002c0002t0001g0027 a0002c0002t0001g0083 a0003c0004t0003g0154	5	155	0.0323	-18	c.166 others(35): Show c.1663-950_1663-933delGTGTCCCTGCTCCGTCCC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289642	TCTGCTCC others(11): Show TCTGCTCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01975.hp1 HG01192.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0237 a0001c0001t0002g0236 a0001c0001t0001g0237 a0001c0001t0002g0236	2	270	0.0074	-18	c.166 others(35): Show c.1663-616_1663-599delGTGTCCCTGCTCCGTCCC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289671	CCCCGAGT others(11): Show CCCCGAGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	267	0.0037	-18	c.166 others(35): Show c.1663-595_1663-578delAGTCTCTGCTCCGTCCCG		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289954	CTCTGCTC others(11): Show CTCTGCTCCGTCCCCCGTG	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	286	0.0035	-18	c.166 others(35): Show c.1663-303_1663-286delCCGTGTCTGCTCCGTCCC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290009	CCTGCTCC others(11): Show CCTGCTCCGTCCCGTGTCT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	140	0.0071	-18	c.166 others(35): Show c.1663-244_1663-227delTCTGCTCCGTCCCGTGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290027	TCTGCTCC others(11): Show TCTGCTCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0176 a0001c0020t0001g0176	1	265	0.0038	-18	c.166 others(35): Show c.1663-226_1663-209delCCTGCTCCGTCCCGTGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290045	CCTGCTCC others(11): Show CCTGCTCCGTCCCGTGTCT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01517.hp1 HG00642.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0242 a0001c0001t0001g0245	2	115	0.0174	-18	c.166 others(35): Show c.1663-159_1663-142delGTGTCTCTGCTCCGTCCC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290128	CCCCGTGT others(11): Show CCCCGTGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03139.hp1 HG02922.hp2 HG03139.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0004c0008t0001 a0001c0001t0001 a0004c0008t0001	a0001c0001t0001g0226 a0004c0008t0001g0231 a0001c0001t0001g0226 a0004c0008t0001g0231	2	227	0.0088	-18	c.166 others(34): Show c.1663-116_1663-99delTCTGCTCCGTCCCGTGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290155	TCTGCTCC others(11): Show TCTGCTCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02723.hp1 HG02886.hp1 others(1): Show HG02622.hp1 HG02723.hp1 HG02886.hp1 HG03942.hp1	a0002 a0014 a0022 a0002 a0014 a0022	a0002c0003 a0014c0021 a0022c0045 a0002c0003 a0014c0021 a0022c0045	a0002c0003t0004 a0014c0021t0008 a0022c0045t0001 a0002c0003t0004 a0014c0021t0008 a0022c0045t0001	a0002c0003t0004g0113 a0002c0003t0004g0116 a0014c0021t0008g0270 others(1): Show a0002c0003t0004g0113 a0002c0003t0004g0116 a0014c0021t0008g0270 a0022c0045t0001g0163	4	276	0.0145	-18	c.166 others(33): Show c.1663-80_1663-63delCCTGCTCCGTCCCGTGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1G_chr16_23177745_23221883	23204288	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0297 a0001c0002t0003g0297	1	151	0.0066	-18	c.107 others(37): Show c.1078-5432_1078-5415delTATATATATATATATATA		SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23204318	TATATATA others(11): Show TATATATATATATATATAG	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0018 a0001c0008t0001g0018	1	316	0.0032	-18	c.107 others(37): Show c.1078-5430_1078-5413delTATATATATATATATAGA		SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCOC_chr4_140368646_140390728	140369857	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 NA21309.hp2 HG02258.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0032 a0001c0001t0016g0032	2	145	0.0138	-18	c.-39 others(29): Show c.-3910_-3893delTTTTTTTTTTTTTTTTTT		SCOC	ENSG00000153130.18	transcript	ENST00000608372.6	protein_coding					3788		chr4	TogoVar
SCP2_chr1_52922276_53056698	52934592	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0031 a0001c0001t0006g0031	1	15	0.0667	-18	c.69+ others(33): Show c.69+7148_69+7165delTTTTTTTTTTTTTTTTTT		SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCP2_chr1_52922276_53056698	52960478	ATATGTGT others(11): Show ATATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG02486.hp2 others(15): Show HG01884.hp2 HG02257.hp2 HG02486.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03139.hp1 HG03195.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 others(4): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0004t0001 a0001c0004t0004 a0001c0004t0009 a0001c0004t0013	a0001c0002t0002g0138 a0001c0002t0002g0266 a0001c0002t0002g0267 others(15): Show a0001c0002t0002g0138 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0003g0139 a0001c0002t0003g0142 a0001c0002t0003g0143 a0001c0002t0006g0045 a0001c0004t0001g0144 a0001c0004t0004g0137 a0001c0004t0004g0140 a0001c0004t0004g0141 a0001c0004t0004g0145 a0001c0004t0004g0146 a0001c0004t0004g0147 a0001c0004t0009g0171 a0001c0004t0009g0172 a0001c0004t0013g0269	18	271	0.0664	-18	c.397 others(35): Show c.397-1023_397-1006delATGTGTGTGTGTGTGTGT		SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCP2_chr1_52922276_53056698	53037950	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG01192.hp2 others(20): Show HG00642.hp2 HG00735.hp2 HG01192.hp2 HG01261.hp2 HG01433.hp2 HG01993.hp2 HG02056.hp2 HG02109.hp2 HG02257.hp2 HG02258.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp1 HG03927.hp2 HG04199.hp1 NA18522.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18989.hp1 NA19005.hp1 NA19063.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0003t0001 a0001c0004t0013 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0013 a0001c0006t0001	a0001c0001t0001g0057 a0001c0003t0001g0001 a0001c0003t0001g0002 others(20): Show a0001c0001t0001g0057 a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0008 a0001c0003t0001g0009 a0001c0003t0001g0013 a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0023 a0001c0003t0001g0025 a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0085 a0001c0003t0001g0212 a0001c0003t0001g0222 a0001c0003t0001g0231 a0001c0004t0013g0269 a0001c0006t0001g0029 a0001c0006t0001g0030	23	99	0.2323	-18	c.133 others(35): Show c.1339-945_1339-928delCACACACACACACACACA		SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	13/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCRN1_chr7_29915109_29994801	29966159	CAGAGAGA others(11): Show CAGAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0240 a0001c0001t0008g0240	1	32	0.0313	-18	c.159 others(35): Show c.159+2732_159+2749delCTCTCTCTCTCTCTCTCT		SCRN1	ENSG00000136193.17	transcript	ENST00000242059.10	protein_coding	2/7						chr7	TogoVar
SCRT2_chr20_656596_680802	672388	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02109.hp1 HG02145.hp1 others(18): Show HG00642.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03209.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 NA18522.hp1 NA20129.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0003c0005t0001	a0001c0001t0001g0020 a0001c0001t0001g0122 a0001c0001t0001g0154 others(7): Show a0001c0001t0001g0020 a0001c0001t0001g0122 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0003g0153 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0008g0033 a0001c0001t0009g0005 a0003c0005t0001g0155	21	110	0.1909	-18	c.133 others(35): Show c.133+3063_133+3080delACACACACACACACACAC		SCRT2	ENSG00000215397.4	transcript	ENST00000246104.7	protein_coding	1/1						chr20	TogoVar
SCRT2_chr20_656596_680802	674715	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01243.hp2 HG01261.hp1 others(4): Show HG00323.hp1 HG01243.hp2 HG01261.hp1 HG02559.hp1 HG02622.hp2 HG02818.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0017	a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0003g0061 others(2): Show a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0003g0061 a0001c0001t0011g0168 a0001c0001t0017g0063	7	456	0.0154	-18	c.133 others(33): Show c.133+736_133+753delTACACACACACACACACA		SCRT2	ENSG00000215397.4	transcript	ENST00000246104.7	protein_coding	1/1						chr20	TogoVar
SCTR_chr2_119434843_119529483	119512328	CCCTTCCC others(11): Show CCCTTCCCCTTCCCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	288	0.0035	-18	c.72+ others(35): Show c.72+11809_72+11826delAGAAGGGGAAGGGGAAGG		SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	1/12						chr2	TogoVar
SCTR_chr2_119434843_119529483	119512334	CCCTTCCC others(11): Show CCCTTCCCCTTCTCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp2 others(46): Show HG00140.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01243.hp2 HG01261.hp1 HG01361.hp2 HG01516.hp2 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG01981.hp1 HG02004.hp2 HG02135.hp2 HG02615.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG03130.hp1 HG03516.hp1 HG03516.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp1 HG04184.hp1 HG04204.hp2 NA18941.hp2 NA18948.hp1 NA18990.hp1 NA19030.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0009	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0003c0006 a0004c0007 a0009c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0002t0004 a0001c0002t0009 a0001c0004t0001 a0003c0006t0005 a0004c0007t0008 a0009c0011t0002	a0001c0001t0001g0135 a0001c0001t0001g0224 a0001c0001t0001g0236 others(46): Show a0001c0001t0001g0135 a0001c0001t0001g0224 a0001c0001t0001g0236 a0001c0001t0001g0279 a0001c0001t0002g0134 a0001c0001t0002g0204 a0001c0001t0002g0209 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0235 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0003g0005 a0001c0001t0003g0008 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0004g0087 a0001c0001t0006g0285 a0001c0001t0007g0286 a0001c0002t0001g0223 a0001c0002t0001g0227 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0004g0057 a0001c0002t0004g0063 a0001c0002t0004g0086 a0001c0002t0009g0264 a0001c0004t0001g0274 a0003c0006t0005g0263 a0003c0006t0005g0265 a0004c0007t0008g0094 a0009c0011t0002g0228	49	216	0.2269	-18	c.72+ others(35): Show c.72+11803_72+11820delAGAAGGAGAAGGGGAAGG		SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	1/12						chr2	TogoVar
SCT_chr11_621309_632181	628937	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00735.hp2 others(25): Show HG00323.hp2 HG00544.hp2 HG00735.hp2 HG01175.hp1 HG01943.hp1 HG01993.hp1 HG02132.hp2 HG02647.hp1 HG02976.hp1 HG03834.hp2 HG04204.hp1 NA18948.hp1 NA18951.hp1 NA18969.hp2 NA18975.hp1 NA18975.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18999.hp2 NA19005.hp2 NA19058.hp2 NA19068.hp1 NA19074.hp1 NA19085.hp2 NA19088.hp1 NA19090.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005	28	407	0.0688	-18	c.-18 others(29): Show c.-1812_-1795delAAGAAAGAAAGAAAGAAA		SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding					1757		chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9045602	GACAGACA others(11): Show GACAGACAGACACACACAC	G G	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0011 a0003c0008t0011	a0003c0008t0011g0194 a0003c0008t0011g0194	1	350	0.0029	-18	c.200 others(37): Show c.2002+1736_2002+1753delGTGTGTGTGTCTGTCTGT		SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	16/22						chr11	TogoVar
SCYGR1_chr2_227382683_227392949	227387217	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp2 NA19064.hp1 NA19079.hp2 NA18995.hp2 NA19064.hp1 NA19079.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	3	359	0.0084	-18	c.44 others(27): Show c.448_*465delTATAGAGAGAGAGAGAGA		SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding					465		chr2	TogoVar

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