Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TM9SF4_chr20_32104714_32172256	32123199	G G	GGGGGAGG others(14): Show GGGGGAGGGGGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	243	0.0041	21	c.16- others(36): Show c.16-9810_16-9809insAGGGGGGGAGGGGGGGAGGGG	TM9SF4	ENSG00000101337.16	transcript	ENST00000398022.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TM9SF4_chr20_32104714_32172256	32123203	G G	GAGGGGGG others(14): Show GAGGGGGGAGGGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	235	0.0043	21	c.16- others(36): Show c.16-9810_16-9809insAGGGGGGAGGGGGGAGGGGGA	TM9SF4	ENSG00000101337.16	transcript	ENST00000398022.7	protein_coding	1/17			chr20	TogoVar
TM9SF4_chr20_32104714_32172256	32123205	A A	AGGGGGGA others(14): Show AGGGGGGAGGGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	232	0.0043	21	c.16- others(36): Show c.16-9803_16-9802insGAGGGGGGAGGGGGAGGGGGG	TM9SF4	ENSG00000101337.16	transcript	ENST00000398022.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TM9SF4_chr20_32104714_32172256	32123866	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01099.hp2 HG02083.hp2 others(4): Show HG00323.hp1 HG01099.hp2 HG02083.hp2 HG03491.hp1 HG03492.hp1 HG03688.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0077 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0077 a0001c0001t0001g0102 a0001c0001t0001g0122 a0001c0001t0001g0136 a0001c0001t0001g0142	7	57	0.1228	21	c.16- others(36): Show c.16-9146_16-9145insATATATATATTTTTTTTTTTT	TM9SF4	ENSG00000101337.16	transcript	ENST00000398022.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TM9SF4_chr20_32104714_32172256	32123866	A A	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	51	0.0196	21	c.16- others(36): Show c.16-9146_16-9145insATATATATTTTTTTTTTTTTT	TM9SF4	ENSG00000101337.16	transcript	ENST00000398022.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TM9SF4_chr20_32104714_32172256	32163268	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	233	0.0043	21	c.177 others(40): Show c.1779+1904_1779+1905insAAATATATATATATATATATA	TM9SF4	ENSG00000101337.16	transcript	ENST00000398022.7	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TMC2_chr20_2531573_2648580	2589324	G G	GTGTGTGT others(14): Show GTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0322 a0001c0001t0008g0322	1	340	0.0029	21	c.835 others(38): Show c.835-2986_835-2985insTGTGTGTGTGTGTGTGTGTGT	TMC2	ENSG00000149488.14	transcript	ENST00000358864.2	protein_coding	7/19			chr20	TogoVar
TMC5_chr16_19412883_19504113	19496887	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0013 a0005c0004t0013	a0005c0004t0013g0293 a0005c0004t0013g0293	1	48	0.0208	21	c.293 others(38): Show c.2932-228_2932-208dupAAAAAAAAAAAAAAAAAAAAA	TMC5	ENSG00000103534.17	transcript	ENST00000542583.7	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
TMC6_chr17_78102397_78133755	78115042	T T	TCTACAGC others(14): Show TCTACAGCCAGACAACCACCGC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0070 a0002c0002t0070	a0002c0002t0070g0419 a0002c0002t0070g0419	1	442	0.0023	21	c.227 others(40): Show c.2278-1439_2278-1419dupGCGGTGGTTGTCTGGCTGTAG	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115614	G G	GAGGAGCG others(14): Show GAGGAGCGAAGGGAGTGGGCAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01515.hp1 HG01517.hp1 others(3): Show HG01433.hp2 HG01515.hp1 HG01517.hp1 HG02165.hp1 HG02895.hp1 NA18973.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0004 a0001c0001 a0002c0002 a0005c0004	a0001c0001t0001 a0001c0001t0030 a0002c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0030 a0002c0002t0002 a0002c0002t0034 a0005c0004t0003	a0001c0001t0001g0011 a0001c0001t0030g0346 a0002c0002t0002g0138 others(2): Show a0001c0001t0001g0011 a0001c0001t0030g0346 a0002c0002t0002g0138 a0002c0002t0034g0120 a0005c0004t0003g0206	6	402	0.0149	21	c.227 others(40): Show c.2277+1634_2277+1654dupGTGCCCACTCCCTTCGCTCCT	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115614	G G	GAGGGGCG others(14): Show GAGGGGCGAAGGGAGTGGGCAC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03453.hp2 HG02056.hp1 HG03453.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0006 a0002c0002 a0004c0006	a0002c0002t0002 a0004c0006t0047 a0002c0002t0002 a0004c0006t0047	a0002c0002t0002g0073 a0004c0006t0047g0049 a0002c0002t0002g0073 a0004c0006t0047g0049	2	398	0.0050	21	c.227 others(40): Show c.2277+1654_2277+1655insGTGCCCACTCCCTTCGCCCCT	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(14): Show AGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01123.hp1 HG01243.hp1 others(7): Show HG00597.hp2 HG01123.hp1 HG01243.hp1 HG02572.hp1 NA18979.hp2 NA18990.hp2 NA18998.hp1 NA19002.hp2 NA19005.hp1 NA19060.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0006 a0005c0004 a0006c0008	a0001c0001t0003 a0001c0001t0033 a0001c0001t0083 others(7): Show a0001c0001t0003 a0001c0001t0033 a0001c0001t0083 a0002c0002t0002 a0003c0003t0015 a0003c0003t0085 a0004c0006t0002 a0005c0004t0058 a0006c0008t0045 a0006c0008t0046	a0001c0001t0003g0261 a0001c0001t0033g0167 a0001c0001t0083g0303 others(7): Show a0001c0001t0003g0261 a0001c0001t0033g0167 a0001c0001t0083g0303 a0002c0002t0002g0072 a0003c0003t0015g0398 a0003c0003t0085g0380 a0004c0006t0002g0054 a0005c0004t0058g0224 a0006c0008t0045g0148 a0006c0008t0046g0149	10	197	0.0508	21	c.227 others(40): Show c.2277+1630_2277+1650dupCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115639	G G	GGCGAAGG others(14): Show GGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01109.hp2 HG01243.hp2 others(6): Show HG00423.hp2 HG01109.hp2 HG01243.hp2 HG01516.hp1 HG02165.hp2 HG06807.hp1 NA18947.hp1 NA18983.hp1 NA19043.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0081 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0081 a0001c0005t0003 a0002c0002t0002 a0002c0002t0009 a0003c0003t0001 a0004c0011t0008	a0001c0001t0001g0175 a0001c0001t0004g0251 a0001c0001t0081g0344 others(6): Show a0001c0001t0001g0175 a0001c0001t0004g0251 a0001c0001t0081g0344 a0001c0005t0003g0246 a0002c0002t0002g0085 a0002c0002t0002g0124 a0002c0002t0009g0131 a0003c0003t0001g0384 a0004c0011t0008g0154	9	411	0.0219	21	c.227 others(40): Show c.2277+1629_2277+1630insTCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115641	C C	CGAAGGGA others(14): Show CGAAGGGAGTGGGCACAGGGGT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0099 a0002c0002t0002g0099	1	442	0.0023	21	c.227 others(40): Show c.2277+1627_2277+1628insACCCCTGTGCCCACTCCCTTC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115660	G G	GGCGAAGG others(14): Show GGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01192.hp1 HG02129.hp1 others(6): Show HG00408.hp1 HG01192.hp1 HG02129.hp1 HG03942.hp2 NA18522.hp2 NA18966.hp1 NA18983.hp2 NA19000.hp1 NA19002.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0005 a0002c0002 others(3): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0006 a0005c0004	a0001c0001t0003 a0001c0001t0017 a0001c0005t0060 others(5): Show a0001c0001t0003 a0001c0001t0017 a0001c0005t0060 a0002c0002t0002 a0003c0003t0001 a0003c0003t0003 a0004c0006t0010 a0005c0004t0003	a0001c0001t0003g0339 a0001c0001t0017g0014 a0001c0005t0060g0193 others(6): Show a0001c0001t0003g0339 a0001c0001t0017g0014 a0001c0005t0060g0193 a0002c0002t0002g0121 a0003c0003t0001g0373 a0003c0003t0003g0372 a0003c0003t0003g0410 a0004c0006t0010g0062 a0005c0004t0003g0228	9	411	0.0219	21	c.227 others(40): Show c.2277+1608_2277+1609insTCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115681	G G	AGCGAAGG others(14): Show AGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0130 a0002c0002t0002g0130	1	408	0.0025	21	c.227 others(40): Show c.2277+1588_2277+1589insCCTGTGCCCACTCCCTTCGCT	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115681	G G	GGCGAAGG others(14): Show GGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02055.hp2 HG02615.hp2 others(5): Show HG01099.hp2 HG02055.hp2 HG02615.hp2 HG03490.hp2 NA18977.hp2 NA18988.hp1 NA18993.hp1 NA21309.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0005 a0007c0007 a0001c0001 a0001c0005 a0007c0007	a0001c0001t0003 a0001c0001t0011 a0001c0001t0012 others(3): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0012 a0001c0001t0065 a0001c0005t0003 a0007c0007t0002	a0001c0001t0003g0321 a0001c0001t0011g0287 a0001c0001t0012g0163 others(5): Show a0001c0001t0003g0321 a0001c0001t0011g0287 a0001c0001t0012g0163 a0001c0001t0065g0276 a0001c0005t0003g0190 a0001c0005t0003g0191 a0001c0005t0003g0244 a0007c0007t0002g0065	8	415	0.0193	21	c.227 others(40): Show c.2277+1587_2277+1588insTCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115702	G G	GGCGAAGG others(14): Show GGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03225.hp1 HG02886.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0089 a0001c0001t0020g0093 a0001c0001t0020g0089 a0001c0001t0020g0093	2	417	0.0048	21	c.227 others(40): Show c.2277+1566_2277+1567insTCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115723	G G	GGCGAAGG others(14): Show GGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03209.hp1 NA18960.hp1 others(1): Show HG02280.hp2 HG03209.hp1 NA18960.hp1 NA19090.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0005 a0002c0002 a0003c0003 others(1): Show a0001c0005 a0002c0002 a0003c0003 a0005c0018	a0001c0005t0073 a0002c0002t0013 a0003c0003t0005 others(1): Show a0001c0005t0073 a0002c0002t0013 a0003c0003t0005 a0005c0018t0027	a0001c0005t0073g0300 a0002c0002t0013g0064 a0003c0003t0005g0381 others(1): Show a0001c0005t0073g0300 a0002c0002t0013g0064 a0003c0003t0005g0381 a0005c0018t0027g0022	4	402	0.0100	21	c.227 others(40): Show c.2277+1545_2277+1546insTCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115744	G G	GGCGAAGG others(14): Show GGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG03239.hp2 HG01358.hp2 HG03239.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0424 a0002c0002t0002g0078 a0001c0001t0003g0424 a0002c0002t0002g0078	2	416	0.0048	21	c.227 others(40): Show c.2277+1524_2277+1525insTCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115765	G G	GGCGAAGG others(14): Show GGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01993.hp1 HG00642.hp1 HG01993.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0429 a0002c0002t0002g0114 a0001c0001t0003g0429 a0002c0002t0002g0114	2	409	0.0049	21	c.227 others(40): Show c.2277+1503_2277+1504insTCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115807	G G	GGCGAAGG others(14): Show GGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02300.hp2 HG02738.hp1 others(2): Show HG01358.hp1 HG02300.hp2 HG02738.hp1 HG03831.hp1 NA19009.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0003 a0001c0001 a0001c0005 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0001c0005t0003 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0005t0003 a0003c0003t0001	a0001c0001t0001g0297 a0001c0001t0001g0338 a0001c0001t0004g0329 others(2): Show a0001c0001t0001g0297 a0001c0001t0001g0338 a0001c0001t0004g0329 a0001c0005t0003g0189 a0003c0003t0001g0353	5	417	0.0120	21	c.227 others(40): Show c.2277+1461_2277+1462insTCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115828	G G	GGCGAAGG others(14): Show GGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA18948.hp1 HG03834.hp1 NA18948.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0006 a0002c0002 a0004c0006	a0002c0002t0044 a0004c0006t0002 a0002c0002t0044 a0004c0006t0002	a0002c0002t0044g0107 a0004c0006t0002g0048 a0002c0002t0044g0107 a0004c0006t0002g0048	2	409	0.0049	21	c.227 others(40): Show c.2277+1440_2277+1441insTCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115849	G G	GGCGAAGG others(14): Show GGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA18977.hp2 HG02698.hp2 NA18977.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0003 a0001c0005t0001 a0001c0005t0003	a0001c0005t0001g0241 a0001c0005t0003g0190 a0001c0005t0001g0241 a0001c0005t0003g0190	2	403	0.0050	21	c.227 others(40): Show c.2277+1419_2277+1420insTCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115870	G G	GGCGAAGG others(14): Show GGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01934.hp1 HG00323.hp2 HG01934.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0066 a0002c0002t0002 a0003c0003t0066	a0002c0002t0002g0097 a0003c0003t0066g0365 a0002c0002t0002g0097 a0003c0003t0066g0365	2	413	0.0048	21	c.227 others(40): Show c.2277+1398_2277+1399insTCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115891	G G	GGCGAAGG others(14): Show GGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18978.hp2 HG02109.hp1 NA18978.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0006 a0003c0003 a0004c0006	a0003c0003t0001 a0004c0006t0006 a0003c0003t0001 a0004c0006t0006	a0003c0003t0001g0403 a0004c0006t0006g0059 a0003c0003t0001g0403 a0004c0006t0006g0059	2	426	0.0047	21	c.227 others(40): Show c.2277+1377_2277+1378insTCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115912	G G	GGCGAAGG others(14): Show GGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA18969.hp1 NA19010.hp1 others(1): Show HG01099.hp2 NA18969.hp1 NA19010.hp1 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0011 a0003c0003t0029 a0001c0001t0001 a0001c0001t0011 a0003c0003t0029	a0001c0001t0001g0174 a0001c0001t0011g0287 a0001c0001t0011g0288 others(1): Show a0001c0001t0001g0174 a0001c0001t0011g0287 a0001c0001t0011g0288 a0003c0003t0029g0388	4	424	0.0094	21	c.227 others(40): Show c.2277+1356_2277+1357insTCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115915	G G	GAAGGGAG others(14): Show GAAGGGAGTGGGCACAGGAGCA	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0006 a0004c0006t0006	a0004c0006t0006g0051 a0004c0006t0006g0051	1	439	0.0023	21	c.227 others(40): Show c.2277+1353_2277+1354insTGCTCCTGTGCCCACTCCCTT	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC7_chr16_18978934_19068942	19064374	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	277	0.0036	21	c.25 others(32): Show c.2531_*2532insGTGTGTGTGTGTGTGTGTGTG	TMC7	ENSG00000170537.13	transcript	ENST00000304381.10	protein_coding		433		chr16	TogoVar
TMCC1_chr3_129642792_129898711	129720201	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18522.hp2 HG02280.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0153 a0001c0001t0008g0253 a0001c0001t0008g0153 a0001c0001t0008g0253	2	252	0.0079	21	c.577 others(40): Show c.577-48938_577-48937insCTTTTTTTTTTTTTTTTTTTT	TMCC1	ENSG00000172765.19	transcript	ENST00000393238.8	protein_coding	4/6			chr3	TogoVar
TMCC2_chr1_205222946_205278343	205247812	G G	GCAGCCCT others(14): Show GCAGCCCTGGCAGGGTTGAGTC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00738.hp1 HG01257.hp2 others(14): Show HG00558.hp1 HG00738.hp1 HG01257.hp2 HG02155.hp2 HG02735.hp2 HG03927.hp1 NA18943.hp2 NA18962.hp2 NA18966.hp2 NA18967.hp1 NA18980.hp1 NA18994.hp1 NA19003.hp2 NA19007.hp2 NA19012.hp2 NA19055.hp2 NA19058.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0012 a0002c0003t0002 a0002c0003t0012	a0002c0003t0002g0001 a0002c0003t0002g0066 a0002c0003t0002g0067 others(11): Show a0002c0003t0002g0001 a0002c0003t0002g0066 a0002c0003t0002g0067 a0002c0003t0002g0068 a0002c0003t0002g0069 a0002c0003t0002g0070 a0002c0003t0002g0071 a0002c0003t0002g0072 a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0076 a0002c0003t0002g0077 a0002c0003t0002g0078 a0002c0003t0012g0075	17	370	0.0459	21	c.747 others(38): Show c.747+5779_747+5799dupAGGGTTGAGTCCAGCCCTGGC	TMCC2	ENSG00000133069.17	transcript	ENST00000358024.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
TMCC3_chr12_94562122_94655557	94578165	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18995.hp2 NA19009.hp1 others(1): Show HG03017.hp2 NA18995.hp2 NA19009.hp1 NA19070.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0001 a0001c0004t0026 a0001c0004t0038 others(1): Show a0001c0004t0001 a0001c0004t0026 a0001c0004t0038 a0001c0005t0003	a0001c0004t0001g0070 a0001c0004t0026g0259 a0001c0004t0038g0072 others(1): Show a0001c0004t0001g0070 a0001c0004t0026g0259 a0001c0004t0038g0072 a0001c0005t0003g0274	4	283	0.0141	21	c.113 others(38): Show c.1131+228_1131+229insCTTTTTTTTTTTTTTTTTTTT	TMCC3	ENSG00000057704.13	transcript	ENST00000261226.9	protein_coding	3/3			chr12	TogoVar
TMCC3_chr12_94562122_94655557	94592661	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01123.hp1 HG01496.hp1 others(25): Show HG00280.hp2 HG01123.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01978.hp1 HG02074.hp2 HG02300.hp2 HG02630.hp1 HG02896.hp1 HG03017.hp2 HG03225.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp2 HG03704.hp1 HG03942.hp2 NA18747.hp2 NA18943.hp1 NA18953.hp1 NA18964.hp1 NA19002.hp1 NA19030.hp1 NA19063.hp2 NA19068.hp1 NA19082.hp2 NA19084.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0013 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0005t0003 a0001c0005t0007 a0001c0013t0051 a0004c0008t0035	a0001c0001t0001g0018 a0001c0001t0001g0110 a0001c0001t0001g0111 others(25): Show a0001c0001t0001g0018 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0154 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0094 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0131 a0001c0001t0002g0150 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0004g0273 a0001c0001t0004g0331 a0001c0001t0009g0183 a0001c0001t0009g0194 a0001c0001t0009g0214 a0001c0002t0002g0203 a0001c0002t0003g0347 a0001c0002t0003g0348 a0001c0002t0004g0364 a0001c0003t0001g0130 a0001c0005t0003g0274 a0001c0005t0007g0333 a0001c0013t0051g0005 a0004c0008t0035g0359	28	132	0.2121	21	c.79- others(38): Show c.79-10144_79-10124dupTTTTTTTTTTTTTTTTTTTTT	TMCC3	ENSG00000057704.13	transcript	ENST00000261226.9	protein_coding	1/3			chr12	TogoVar
TMCO4_chr1_19677240_19804916	19802948	T T	TATATATA others(14): Show TATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp2 NA18983.hp1 NA18983.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0002 a0003c0004t0002 a0001c0002t0002 a0003c0004t0002	a0001c0002t0002g0259 a0003c0004t0002g0049 a0001c0002t0002g0259 a0003c0004t0002g0049	2	302	0.0066	21	c.-32 others(32): Show c.-3274_-3273insTATATATATATATATATATAT	TMCO4	ENSG00000162542.14	transcript	ENST00000294543.11	protein_coding		3033		chr1	TogoVar
TMED10_chr14_75126469_75181612	75164577	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	1	147	0.0068	21	c.225 others(40): Show c.225+11777_225+11778insAAAAAAATATATATATATATA	TMED10	ENSG00000170348.9	transcript	ENST00000303575.9	protein_coding	1/4			chr14	TogoVar
TMED3_chr15_79306112_79327840	79310999	C C	CGGGGGGG others(14): Show CGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	28	0.0357	21	c.-25 others(30): Show c.-251_-250insGGGGGGGGGGGGGGGGGGGGG	TMED3	ENSG00000166557.14	transcript	ENST00000299705.10	protein_coding		112		chr15	TogoVar
TMEM106B_chr7_12206294_12248367	12241473	C C	CTCCCACT others(14): Show CTCCCACTTATGAGTGGCAACT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02109.hp2 others(18): Show HG01167.hp1 HG01169.hp1 HG02109.hp2 HG02132.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03139.hp2 HG03516.hp1 HG03540.hp2 NA18953.hp1 NA19043.hp2 NA19084.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 others(2): Show a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0001t0023 a0001c0001t0024	a0001c0001t0007g0015 a0001c0001t0007g0117 a0001c0001t0007g0121 others(8): Show a0001c0001t0007g0015 a0001c0001t0007g0117 a0001c0001t0007g0121 a0001c0001t0012g0013 a0001c0001t0014g0037 a0001c0001t0014g0122 a0001c0001t0014g0123 a0001c0001t0014g0124 a0001c0001t0023g0038 a0001c0001t0024g0115 a0001c0001t0024g0116	21	396	0.0530	21	c.95 others(32): Show c.9518_*9519insTTCCCACTTATGAGTGGCAAC	TMEM106B	ENSG00000106460.20	transcript	ENST00000396668.8	protein_coding	8/8	9519	INFO_REALIGN_3_PRIME	chr7	TogoVar
TMEM107_chr17_8167457_8181380	8179063	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG03669.hp1 HG04199.hp2 HG02300.hp2 HG03669.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0055 a0001c0001t0003 a0001c0001t0008 a0001c0001t0055	a0001c0001t0003g0003 a0001c0001t0008g0008 a0001c0001t0055g0078 a0001c0001t0003g0003 a0001c0001t0008g0008 a0001c0001t0055g0078	3	391	0.0077	21	c.-27 others(32): Show c.-2778_-2777insATATATATATATATATATATA	TMEM107	ENSG00000179029.15	transcript	ENST00000437139.7	protein_coding		2684		chr17	TogoVar
TMEM107_chr17_8167457_8181380	8179065	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	334	0.0030	21	c.-27 others(32): Show c.-2780_-2779insATATATATATATATATATATA	TMEM107	ENSG00000179029.15	transcript	ENST00000437139.7	protein_coding		2686		chr17	TogoVar
TMEM108_chr3_133033391_133402775	133073484	T T	TCTCTCTC others(14): Show TCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	192	0.0052	21	c.-47 others(40): Show c.-47+27464_-47+27465insCTCTCTCTCTCTCTCTCTCTC	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	2/5			chr3	TogoVar
TMEM108_chr3_133033391_133402775	133143975	T T	TATTTTAT others(14): Show TATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0162 a0001c0002t0001g0162	1	215	0.0047	21	c.-46 others(40): Show c.-46-85281_-46-85280insATTTTATTTTAATTTTATTTT	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM114_chr16_8564500_8595511	8564623	G G	GAGTAAAT others(14): Show GAGTAAATTGAGTGAATGAGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	414	0.0024	21	c.51 others(32): Show c.5149_*5150insTACTCATTCACTCAATTTACT	TMEM114	ENSG00000232258.7	transcript	ENST00000620492.5	protein_coding		4876		chr16	TogoVar
TMEM117_chr12_43831081_44394758	43912507	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	14	0.0714	21	c.278 others(40): Show c.278-31703_278-31702insATATATATATATATATATATA	TMEM117	ENSG00000139173.10	transcript	ENST00000266534.8	protein_coding	2/7			chr12	TogoVar
TMEM117_chr12_43831081_44394758	43969356	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 NA19043.hp1 HG02897.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0104 a0001c0001t0002g0089 a0001c0001t0002g0104	2	21	0.0952	21	c.410 others(40): Show c.410+25031_410+25032insAAAAAAAAAAAAAAAAAAAAA	TMEM117	ENSG00000139173.10	transcript	ENST00000266534.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120A_chr7_75981831_75999595	75988986	G G	GAGGGGAA others(14): Show GAGGGGAAGGCCGGGTGGGTGT	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA18983.hp2 HG03927.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0220 a0001c0001t0001g0204 a0001c0001t0001g0220	2	312	0.0064	21	c.377 others(36): Show c.377+178_377+179insACACCCACCCGGCCTTCCCCT	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM120A_chr7_75981831_75999595	75989015	G G	GAGGGGAA others(14): Show GAGGGGAAGGCCGGGTGGGTGT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18951.hp1 NA18964.hp2 NA18939.hp2 NA18951.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	3	357	0.0084	21	c.377 others(36): Show c.377+149_377+150insACACCCACCCGGCCTTCCCCT	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM121_chr14_105521583_105535198	105526708	G G	GGCGGCGG others(14): Show GGCGGCGGGCCTGGGCGACCCT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0020	1	350	0.0029	21	c.-11 others(36): Show c.-114+58_-114+78dupGGCGGGCCTGGGCGACCCTGC	TMEM121	ENSG00000184986.12	transcript	ENST00000392519.7	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
TMEM123_chr11_102391332_102457765	102395301	G G	GTTTTTGT others(14): Show GTTTTTGTTTTTGTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG06807.hp1 NA18522.hp2 HG03209.hp1 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0002 a0001c0004t0008g0012 a0001c0004t0008g0013 a0001c0004t0008g0002 a0001c0004t0008g0012 a0001c0004t0008g0013	3	26	0.1154	21	c.35 others(32): Show c.3565_*3566insAAAAAAAAACAAAAACAAAAA	TMEM123	ENSG00000152558.15	transcript	ENST00000398136.7	protein_coding		1030		chr11	TogoVar
TMEM131L_chr4_153461360_153641711	153545290	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG04204.hp2 HG02071.hp2 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0006 a0001c0003 a0002c0006	a0001c0003t0001 a0002c0006t0001 a0001c0003t0001 a0002c0006t0001	a0001c0003t0001g0239 a0002c0006t0001g0200 a0001c0003t0001g0239 a0002c0006t0001g0200	2	112	0.0179	21	c.240 others(38): Show c.240-4768_240-4767insTTTTTTTTTTTTTTTTTTTTT	TMEM131L	ENSG00000121210.16	transcript	ENST00000409959.8	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr4	TogoVar
TMEM131_chr2_97751336_98000948	97943037	A A	AAAAGAAA others(14): Show AAAAGAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0012 a0012	a0012c0028 a0012c0028	a0012c0028t0001 a0012c0028t0001	a0012c0028t0001g0246 a0012c0028t0001g0246	1	210	0.0048	21	c.188 others(40): Show c.188-15551_188-15550insCTTTCTTTCTTTCTTTTCTTT	TMEM131	ENSG00000075568.17	transcript	ENST00000186436.10	protein_coding	1/40			chr2	TogoVar

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