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
INTS1_chr7_1465277_1509389	1489311	T T	TCCCGGGC others(44): Show TCCCGGGCCCGCTGAGGGGACGTGCGCACTCACTTCAGGCCCTGCTCCCA GC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	2	0.5000	51	c.231 others(66): Show c.2318+32_2318+33insGCTGGGAGCAGGGCCTGAAGTGAGTGCGCA CGTCCCCTCAGCGGGCCCGGG	INTS1	ENSG00000164880.16	transcript	ENST00000404767.8	protein_coding	18/47			chr7	TogoVar
INTS1_chr7_1465277_1509389	1489311	T T	TCCCGGGC others(44): Show TCCCGGGCCTGCCGAGGGGACGTGCGCACTCACTTCAGGCCCTGCTCCCA GC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02622.hp1 HG03098.hp2 HG02109.hp1 HG02622.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0216 a0001c0001t0001g0035 a0001c0001t0001g0216	3	4	0.7500	51	c.231 others(66): Show c.2318+32_2318+33insGCTGGGAGCAGGGCCTGAAGTGAGTGCGCA CGTCCCCTCGGCAGGCCCGGG	INTS1	ENSG00000164880.16	transcript	ENST00000404767.8	protein_coding	18/47			chr7	TogoVar
INTS1_chr7_1465277_1509389	1489324	G G	GAGGGGAC others(44): Show GAGGGGACGTGCGCACTCACTTCAGGCCCTGCTCCCAGCCCCGGGCCCGC CA	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0078 a0001c0002t0002g0078	1	314	0.0032	51	c.231 others(66): Show c.2318+19_2318+20insTGGCGGGCCCGGGGCTGGGAGCAGGGCCTG AAGTGAGTGCGCACGTCCCCT	INTS1	ENSG00000164880.16	transcript	ENST00000404767.8	protein_coding	18/47			chr7	TogoVar
IPO11_chr5_62407763_62633582	62598527	T T	TTTCTTTC others(44): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	261	0.0038	51	c.267 others(70): Show c.2679-3235_2679-3234insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	28/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0012	1	25	0.0400	51	c.85- others(66): Show c.85-5948_85-5947insAAAAAAAAAAAAAAAAATATATATATATAT ATATATATATATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(44): Show AAAAAAAAAAATATATATATATATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	25	0.0400	51	c.85- others(66): Show c.85-5948_85-5947insAAAAAAAAATATATATATATATATATATAT ATATATATATATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IQCA1_chr2_236319151_236512476	236356970	T T	TATATATA others(44): Show TATATATATTATATATCTATATATTTATATATTCATATATATCTATATAT TC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0002 a0002c0013t0002	a0002c0013t0002g0157 a0002c0013t0002g0157	1	206	0.0049	51	c.186 others(70): Show c.1869+6809_1869+6810insGAATATATAGATATATATGAATATAT AAATATATAGATATATAATATATAT	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18			chr2	TogoVar
IQCE_chr7_2553979_2619728	2577482	A A	ACGCATTG others(44): Show ACGCATTGGCGTGTGCGTGGCTGTGCGCGCGGGGACGTGTGTGCGGCGTG CC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	399	0.0025	51	c.466 others(66): Show c.466-736_466-735insCGCGCGGGGACGTGTGTGCGGCGTGCCCGC ATTGGCGTGTGCGTGGCTGTG	IQCE	ENSG00000106012.19	transcript	ENST00000402050.7	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr7	TogoVar
IQCE_chr7_2553979_2619728	2577509	T T	TGCGGGGA others(44): Show TGCGGGGACGTGTGTGCGGCGTGCCCGCATTGGCGTGTGCGTGGCTGTGC GC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp2 HG01891.hp2 HG00735.hp1 HG01069.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0030 a0001c0003t0001 a0001c0003t0030	a0001c0003t0001g0266 a0001c0003t0001g0291 a0001c0003t0030g0048 a0001c0003t0001g0266 a0001c0003t0001g0291 a0001c0003t0030g0048	3	377	0.0080	51	c.466 others(66): Show c.466-658_466-608dupCCGCATTGGCGTGTGCGTGGCTGTGCGCGC GGGGACGTGTGTGCGGCGTGC	IQCE	ENSG00000106012.19	transcript	ENST00000402050.7	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr7	TogoVar
IQCE_chr7_2553979_2619728	2577788	A A	ACGCATTG others(44): Show ACGCATTGGCGTGTGCGTGGCTGTGCGCGCGGGGACCTGTGTGCGGCGTG CG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00597.hp2 others(59): Show HG00438.hp2 HG00558.hp2 HG00597.hp2 HG01074.hp2 HG01081.hp1 HG01255.hp2 HG01943.hp1 HG01952.hp2 HG02004.hp1 HG02055.hp1 HG02132.hp2 HG02135.hp2 HG02258.hp2 HG02273.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG03041.hp2 HG03471.hp2 HG03831.hp1 NA18612.hp2 NA18939.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18966.hp1 NA18968.hp1 NA18978.hp2 NA18980.hp1 NA18982.hp2 NA18986.hp1 NA18993.hp2 NA18994.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19054.hp2 NA19057.hp1 NA19064.hp2 NA19068.hp1 NA19074.hp1 NA19078.hp2 NA19085.hp2 NA19088.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0003 a0001c0019 others(4): Show a0001c0001 a0001c0003 a0001c0019 a0002c0004 a0003c0020 a0003c0024 a0006c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 others(13): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 a0001c0001t0046 a0001c0001t0049 a0001c0001t0070 a0001c0003t0020 a0001c0003t0030 a0001c0019t0004 a0002c0004t0002 a0002c0004t0003 a0003c0020t0082 a0003c0020t0083 a0003c0024t0084 a0006c0009t0014 a0006c0009t0112	a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(59): Show a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0250 a0001c0001t0001g0270 a0001c0001t0001g0296 a0001c0001t0001g0362 a0001c0001t0001g0390 a0001c0001t0001g0411 a0001c0001t0001g0412 a0001c0001t0001g0413 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0029 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0042 a0001c0001t0004g0044 a0001c0001t0004g0047 a0001c0001t0004g0062 a0001c0001t0004g0071 a0001c0001t0004g0174 a0001c0001t0004g0184 a0001c0001t0016g0205 a0001c0001t0016g0265 a0001c0001t0046g0389 a0001c0001t0049g0243 a0001c0001t0070g0031 a0001c0003t0020g0020 a0001c0003t0020g0117 a0001c0003t0020g0118 a0001c0003t0030g0154 a0001c0019t0004g0092 a0001c0019t0004g0104 a0002c0004t0002g0258 a0002c0004t0002g0407 a0002c0004t0003g0108 a0003c0020t0082g0158 a0003c0020t0083g0159 a0003c0024t0084g0109 a0006c0009t0014g0268 a0006c0009t0014g0292 a0006c0009t0014g0304 a0006c0009t0014g0367 a0006c0009t0014g0388 a0006c0009t0112g0090	62	343	0.1808	51	c.466 others(66): Show c.466-419_466-418insCTGTGTGCGGCGTGCGCGCATTGGCGTGTG CGTGGCTGTGCGCGCGGGGAC	IQCE	ENSG00000106012.19	transcript	ENST00000402050.7	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr7	TogoVar
IQCE_chr7_2553979_2619728	2577949	T T	TCGTGTGC others(44): Show TCGTGTGCGTGGCTGTGCGCGCGGGGACGTGTGTGCGGCGTGCGCGCATT GG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0072 a0002c0015t0072	a0002c0015t0072g0053 a0002c0015t0072g0053	1	178	0.0056	51	c.466 others(66): Show c.466-252_466-251insCGCGCATTGGCGTGTGCGTGGCTGTGCGCG CGGGGACGTGTGTGCGGCGTG	IQCE	ENSG00000106012.19	transcript	ENST00000402050.7	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr7	TogoVar
IQCE_chr7_2553979_2619728	2577957	G G	GTGGCTGT others(44): Show GTGGCTGTGCGCGCGGGGACGTGCGTGCGGCGTGTGCGCATTGGCGTGTA CT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00558.hp2 others(92): Show HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01255.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01943.hp1 HG01952.hp2 HG02004.hp1 HG02055.hp1 HG02074.hp2 HG02132.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02523.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG03041.hp2 HG03471.hp2 HG03492.hp1 HG03831.hp1 HG03834.hp2 HG04199.hp2 HG04228.hp2 NA18612.hp2 NA18939.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18978.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18993.hp2 NA18994.hp2 NA19003.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp2 NA19081.hp1 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0009 a0019 a0023	a0001c0001 a0001c0003 a0001c0019 others(9): Show a0001c0001 a0001c0003 a0001c0019 a0002c0004 a0002c0038 a0003c0020 a0003c0024 a0006c0009 a0006c0035 a0009c0021 a0019c0030 a0023c0032	a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 others(25): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 a0001c0001t0046 a0001c0001t0049 a0001c0001t0053 a0001c0001t0070 a0001c0003t0020 a0001c0003t0030 a0001c0019t0004 a0002c0004t0002 a0002c0004t0003 a0002c0004t0012 a0002c0004t0013 a0002c0004t0040 a0002c0004t0071 a0002c0004t0076 a0002c0004t0103 a0002c0038t0113 a0003c0020t0082 a0003c0020t0083 a0003c0024t0084 a0006c0009t0014 a0006c0009t0112 a0006c0035t0034 a0009c0021t0041 a0019c0030t0101 a0023c0032t0012	a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(91): Show a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0250 a0001c0001t0001g0270 a0001c0001t0001g0280 a0001c0001t0001g0296 a0001c0001t0001g0362 a0001c0001t0001g0390 a0001c0001t0001g0411 a0001c0001t0001g0412 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0029 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0042 a0001c0001t0004g0044 a0001c0001t0004g0047 a0001c0001t0004g0062 a0001c0001t0004g0071 a0001c0001t0004g0174 a0001c0001t0004g0181 a0001c0001t0004g0184 a0001c0001t0016g0205 a0001c0001t0016g0265 a0001c0001t0046g0389 a0001c0001t0049g0243 a0001c0001t0053g0059 a0001c0001t0070g0031 a0001c0003t0020g0020 a0001c0003t0020g0117 a0001c0003t0020g0118 a0001c0003t0030g0154 a0001c0019t0004g0092 a0001c0019t0004g0104 a0002c0004t0002g0214 a0002c0004t0002g0222 a0002c0004t0002g0224 a0002c0004t0002g0240 a0002c0004t0002g0248 a0002c0004t0002g0258 a0002c0004t0002g0262 a0002c0004t0002g0269 a0002c0004t0002g0275 a0002c0004t0002g0303 a0002c0004t0002g0332 a0002c0004t0002g0365 a0002c0004t0002g0376 a0002c0004t0002g0407 a0002c0004t0003g0001 a0002c0004t0003g0006 a0002c0004t0003g0007 a0002c0004t0003g0008 a0002c0004t0003g0108 a0002c0004t0003g0147 a0002c0004t0003g0161 a0002c0004t0012g0274 a0002c0004t0012g0334 a0002c0004t0012g0379 a0002c0004t0013g0257 a0002c0004t0040g0260 a0002c0004t0071g0162 a0002c0004t0076g0103 a0002c0004t0103g0398 a0002c0038t0113g0024 a0003c0020t0082g0158 a0003c0020t0083g0159 a0003c0024t0084g0109 a0006c0009t0014g0268 a0006c0009t0014g0292 a0006c0009t0014g0304 a0006c0009t0014g0367 a0006c0009t0014g0388 a0006c0009t0112g0090 a0006c0035t0034g0173 a0009c0021t0041g0371 a0009c0021t0041g0375 a0019c0030t0101g0276 a0023c0032t0012g0312	95	382	0.2487	51	c.466 others(66): Show c.466-263_466-262insCGTGCGGCGTGTGCGCATTGGCGTGTACTT GGCTGTGCGCGCGGGGACGTG	IQCE	ENSG00000106012.19	transcript	ENST00000402050.7	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr7	TogoVar
IQCH_chr15_67249786_67506804	67503260	T T	TTAGAATA others(44): Show TTAGAATAACAAATTCTGGTGTGTTGCTTAAAACATAGAAAAAAACAGAT TA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	274	0.0036	51	c.25 others(62): Show c.2514_*2515insTAGAATAACAAATTCTGGTGTGTTGCTTAAAACA TAGAAAAAAACAGATTA	IQCH	ENSG00000103599.20	transcript	ENST00000335894.9	protein_coding		1457		chr15	TogoVar
IQGAP3_chr1_156520405_156577565	156568942	C C	CTGAAAAA others(44): Show CTGAAAAAAGGAGATGGGCTGCTCTGGATTAAAGAAGACATACAAGCAGA TG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	338	0.0030	51	c.125 others(66): Show c.125+383_125+433dupCATCTGCTTGTATGTCTTCTTTAATCCAGA GCAGCCCATCTCCTTTTTTCA	IQGAP3	ENSG00000183856.11	transcript	ENST00000361170.7	protein_coding	2/37			chr1	TogoVar
IRAG2_chr12_25047706_25113335	25077374	T T	TATATATG others(44): Show TATATATGATATATATATGATATATATGAAATATATATGATATATATATG AA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA19030.hp1 NA18522.hp2 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0295 a0002c0002t0001g0296	2	168	0.0119	51	c.25- others(66): Show c.25-1864_25-1863insGATATATATATGATATATATGAAATATATA TGATATATATATGAAATATAT	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRF8_chr16_85894162_85927606	85912266	G G	GGATGCCC others(44): Show GGATGCCCTTTTTCTTCTGTCTTTGGCCTCTTAACTATGCTTTTTCATGG GT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	430	0.0023	51	c.447 others(66): Show c.447+619_447+620insTCTTCTGTCTTTGGCCTCTTAACTATGCTT TTTCATGGGTGATGCCCTTTT	IRF8	ENSG00000140968.12	transcript	ENST00000268638.10	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITFG2_chr12_2807668_2830076	2829517	T T	TAATCCAA others(44): Show TAATCCAAGCACTTTGGGAGGCCAAGGTGGAAGGATCGCTTGAGGCCAGG AG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	51	c.53 others(62): Show c.5324_*5325insAATCCAAGCACTTTGGGAGGCCAAGGTGGAAGGA TCGCTTGAGGCCAGGAG	ITFG2	ENSG00000111203.13	transcript	ENST00000228799.7	protein_coding		4442		chr12	TogoVar
ITGB3BP_chr1_63435770_63528225	63472443	T T	TCCCTCTC others(44): Show TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCCTCTCCCCTC TC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	158	0.0063	51	c.254 others(68): Show c.254+6320_254+6321insGAGAGGGGAGAGGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGG	ITGB3BP	ENSG00000142856.17	transcript	ENST00000271002.15	protein_coding	4/8			chr1	TogoVar
ITIH2_chr10_7698316_7754520	7737840	T T	TATAATAT others(44): Show TATAATATTATATATTATATTCTATATAATATTATATATTATATTCTATA TA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0023 a0007c0015t0001g0023	1	327	0.0031	51	c.195 others(68): Show c.1958-778_1958-777insATATTATATATTATATTCTATATAATAT TATATATTATATTCTATATAATA	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737840	T T	TATAATAT others(44): Show TATAATATTCTATATTATATTCTATATAATATTCTATATTATATTCTATA TA	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	327	0.0031	51	c.195 others(68): Show c.1958-778_1958-777insATATTCTATATTATATTCTATATAATAT TCTATATTATATTCTATATAATA	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7738255	T T	TATATTAT others(44): Show TATATTATATTCTATATAATATTATATTCTATATAATATTATATTCTATA TA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	373	0.0027	51	c.195 others(68): Show c.1958-340_1958-339insTCTATATAATATTATATTCTATATAATA TTATATTCTATATAATATTATAT	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
JADE1_chr4_128804700_128880224	128815120	G G	GCTCCCTG others(44): Show GCTCCCTGTAAGCTCCGCCTCCCTGTAAGCTCCGCCTCCCTGTAAGCTCC GC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19077.hp1 NA19030.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0024 a0001c0001t0003 a0001c0001t0024	a0001c0001t0003g0225 a0001c0001t0024g0227 a0001c0001t0003g0225 a0001c0001t0024g0227	2	85	0.0235	51	c.-27 others(68): Show c.-27+5264_-27+5314dupCCTGTAAGCTCCGCCTCCCTGTAAGCTC CGCCTCCCTGTAAGCTCCGCCTC	JADE1	ENSG00000077684.16	transcript	ENST00000226319.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
JAG2_chr14_105135995_105173776	105161751	C C	CGTCCTTC others(44): Show CGTCCTTCCAGGACTCAGTTGCCTCCTCTGCGTATAGCAACCTCTCATCC CT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01106.hp1 HG01358.hp1 others(2): Show HG00735.hp2 HG01106.hp1 HG01358.hp1 HG03017.hp1 HG04228.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0062 a0003c0003t0002g0063 a0003c0003t0002g0064 others(2): Show a0003c0003t0002g0062 a0003c0003t0002g0063 a0003c0003t0002g0064 a0003c0003t0002g0065 a0003c0003t0002g0066	5	358	0.0140	51	c.418 others(68): Show c.418-3989_418-3988insAGGGATGAGAGGTTGCTATACGCAGAGG AGGCAACTGAGTCCTGGAAGGAC	JAG2	ENSG00000184916.9	transcript	ENST00000331782.8	protein_coding	2/25			chr14	TogoVar
JAG2_chr14_105135995_105173776	105161798	T T	TCCCTGTC others(44): Show TCCCTGTCCTTCCAGGACTCAGTTGCCTCCTCTGCGAATAGCAACCTCTC AC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00558.hp2 others(91): Show HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00735.hp1 HG01074.hp1 HG01175.hp1 HG01256.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp1 HG02273.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03471.hp1 HG03486.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03688.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp2 NA18950.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18985.hp1 NA18990.hp1 NA18990.hp2 NA19002.hp1 NA19003.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19060.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19081.hp2 NA19083.hp1 NA19088.hp1 NA19090.hp2 NA20300.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0011 a0013 a0014	a0001c0001 a0001c0005 a0001c0009 others(18): Show a0001c0001 a0001c0005 a0001c0009 a0001c0014 a0001c0017 a0001c0022 a0001c0024 a0001c0032 a0001c0033 a0002c0002 a0002c0015 a0003c0003 a0003c0006 a0003c0026 a0004c0004 a0005c0007 a0006c0008 a0009c0034 a0011c0028 a0013c0019 a0014c0020	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(24): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0005t0003 a0001c0009t0002 a0001c0009t0005 a0001c0014t0001 a0001c0014t0018 a0001c0017t0003 a0001c0022t0008 a0001c0024t0003 a0001c0032t0002 a0001c0033t0005 a0002c0002t0001 a0002c0015t0001 a0003c0003t0002 a0003c0003t0015 a0003c0006t0002 a0003c0006t0023 a0003c0026t0001 a0004c0004t0001 a0005c0007t0003 a0006c0008t0001 a0009c0034t0001 a0011c0028t0001 a0013c0019t0001 a0014c0020t0019	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(67): Show a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0148 a0001c0001t0008g0048 a0001c0001t0009g0081 a0001c0001t0009g0082 a0001c0005t0003g0014 a0001c0005t0003g0023 a0001c0005t0003g0087 a0001c0005t0003g0089 a0001c0005t0003g0091 a0001c0005t0003g0092 a0001c0009t0002g0055 a0001c0009t0005g0008 a0001c0014t0001g0252 a0001c0014t0018g0086 a0001c0017t0003g0088 a0001c0017t0003g0090 a0001c0022t0008g0084 a0001c0024t0003g0093 a0001c0032t0002g0056 a0001c0033t0005g0057 a0002c0002t0001g0155 a0002c0002t0001g0158 a0002c0015t0001g0146 a0003c0003t0002g0009 a0003c0003t0002g0012 a0003c0003t0002g0022 a0003c0003t0002g0053 a0003c0003t0002g0059 a0003c0003t0002g0060 a0003c0003t0002g0061 a0003c0003t0002g0070 a0003c0003t0002g0071 a0003c0003t0002g0072 a0003c0003t0002g0073 a0003c0003t0002g0075 a0003c0003t0002g0076 a0003c0003t0002g0077 a0003c0003t0002g0079 a0003c0003t0002g0083 a0003c0003t0002g0085 a0003c0003t0002g0094 a0003c0003t0002g0095 a0003c0003t0002g0096 a0003c0003t0002g0097 a0003c0003t0002g0157 a0003c0003t0015g0074 a0003c0006t0002g0010 a0003c0006t0002g0080 a0003c0006t0002g0147 a0003c0006t0002g0149 a0003c0006t0023g0260 a0003c0026t0001g0078 a0004c0004t0001g0004 a0004c0004t0001g0159 a0004c0004t0001g0160 a0004c0004t0001g0161 a0005c0007t0003g0038 a0005c0007t0003g0256 a0006c0008t0001g0018 a0006c0008t0001g0150 a0006c0008t0001g0152 a0006c0008t0001g0154 a0006c0008t0001g0162 a0009c0034t0001g0058 a0011c0028t0001g0153 a0013c0019t0001g0151 a0014c0020t0019g0156	94	215	0.4372	51	c.418 others(68): Show c.418-4086_418-4036dupGTGAGAGGTTGCTATTCGCAGAGGAGGC AACTGAGTCCTGGAAGGACAGGG	JAG2	ENSG00000184916.9	transcript	ENST00000331782.8	protein_coding	2/25			chr14	TogoVar
JAKMIP2_chr5_147580438_147787728	147764943	A A	AAAGAAAG others(44): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	232	0.0043	51	c.-14 others(72): Show c.-149+17512_-149+17513insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTT	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132159691	T T	TGGGGGCA others(44): Show TGGGGGCATGTCTTCCTGTGTGATACTGGGGGGGCCTCTTCCTGTGTGAT GC	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0108 a0004c0007t0001g0108	1	146	0.0068	51	c.222 others(70): Show c.2221-3518_2221-3517insGGGGGCATGTCTTCCTGTGTGATACT GGGGGGGCCTCTTCCTGTGTGATGC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23			chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132159900	G G	GGCCTCTC others(44): Show GGCCTCTCGCTGTGTGATGCTGGGGGGCCTCTCCCTGTGTGATGCTGGGG GA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0002 a0004c0009t0002	a0004c0009t0002g0065 a0004c0009t0002g0065	1	141	0.0071	51	c.222 others(70): Show c.2221-3308_2221-3307insCCTCTCGCTGTGTGATGCTGGGGGGC CTCTCCCTGTGTGATGCTGGGGGAG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160140	T T	TCTATTCC others(44): Show TCTATTCCTGTGTCTTATTGAGGGGGCCTCTCCCTGTGTGATGCTGGGGA GC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0056 a0003c0003t0002g0056	1	112	0.0089	51	c.222 others(70): Show c.2221-3067_2221-3066insATTCCTGTGTCTTATTGAGGGGGCCT CTCCCTGTGTGATGCTGGGGAGCCT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160482	C C	CGCTGTGT others(44): Show CGCTGTGTGATGCTGGGGGGCCTCTCCCTGTGTGATGCTGGGGGAGTCTC TT	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA19240.hp2 HG03540.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0016 a0001c0001 a0002c0016	a0001c0001t0006 a0002c0016t0006 a0001c0001t0006 a0002c0016t0006	a0001c0001t0006g0006 a0002c0016t0006g0099 a0001c0001t0006g0006 a0002c0016t0006g0099	2	133	0.0150	51	c.222 others(70): Show c.2221-2727_2221-2726insGCTGTGTGATGCTGGGGGGCCTCTCC CTGTGTGATGCTGGGGGAGTCTCTT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23			chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160605	G G	GGTCTATT others(44): Show GGTCTATTCCTGTGTCTTATTGAGGGGGCCTCGCCCTGTGTGATGCTGGG GA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0014 a0001c0001t0036g0014	1	123	0.0081	51	c.222 others(70): Show c.2221-2603_2221-2602insTCTATTCCTGTGTCTTATTGAGGGGG CCTCGCCCTGTGTGATGCTGGGGAG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160626	G G	GGGGGGGC others(44): Show GGGGGGGCCTCTTCCTGTGTGATGCTGGGGGCGTGTCTTTCTGTGTGATG CT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0034 a0003c0002t0001g0034	1	152	0.0066	51	c.222 others(70): Show c.2221-2577_2221-2576insCCTCTTCCTGTGTGATGCTGGGGGCG TGTCTTTCTGTGTGATGCTGGGGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JARID2_chr6_15241069_15527042	15415619	T T	TCGGGGCG others(44): Show TCGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCG GA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00735.hp1 HG01071.hp1 others(23): Show HG00408.hp1 HG00735.hp1 HG01071.hp1 HG01168.hp1 HG02040.hp1 HG02135.hp2 HG02559.hp1 HG02630.hp1 HG02698.hp1 HG03669.hp1 HG03831.hp1 HG04204.hp2 NA18522.hp2 NA18747.hp1 NA18943.hp2 NA18951.hp2 NA18971.hp1 NA18980.hp2 NA18998.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(7): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0033 a0001c0003t0034 a0001c0003t0043	a0001c0002t0001g0054 a0001c0002t0002g0028 a0001c0002t0004g0035 others(23): Show a0001c0002t0001g0054 a0001c0002t0002g0028 a0001c0002t0004g0035 a0001c0002t0006g0030 a0001c0003t0003g0034 a0001c0003t0003g0036 a0001c0003t0003g0044 a0001c0003t0003g0046 a0001c0003t0003g0047 a0001c0003t0003g0049 a0001c0003t0003g0083 a0001c0003t0003g0085 a0001c0003t0003g0090 a0001c0003t0003g0091 a0001c0003t0003g0136 a0001c0003t0003g0157 a0001c0003t0003g0164 a0001c0003t0003g0215 a0001c0003t0003g0233 a0001c0003t0003g0271 a0001c0003t0004g0231 a0001c0003t0005g0058 a0001c0003t0005g0224 a0001c0003t0033g0038 a0001c0003t0034g0195 a0001c0003t0043g0255	26	176	0.1477	51	c.323 others(68): Show c.323+5290_323+5291insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCC	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JARID2_chr6_15241069_15527042	15415637	C C	CGGGGGGC others(44): Show CGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	280	0.0036	51	c.323 others(68): Show c.323+5309_323+5310insCGGCTGGCCGGGCGGGGGGGCTGACCCC CCCCACCTCCCTCCCGGACGGGG	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JARID2_chr6_15241069_15527042	15415647	A A	ACCCCCCC others(44): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG AC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0166 a0001c0002t0001g0166	1	276	0.0036	51	c.323 others(68): Show c.323+5309_323+5310insCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCCACCTCCCTCCCGGACGGGG	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JARID2_chr6_15241069_15527042	15415697	A A	ACCCCCCC others(44): Show ACCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTG AC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0112 a0001c0001t0009g0112	1	282	0.0035	51	c.323 others(68): Show c.323+5339_323+5340insCACCTCCCTCCCGGACGGGGTGGCTGGC CGGGCGGGGGGCTGACCCCCCCC	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
KANK1_chr9_499695_751103	504779	C C	CGCGCCCC others(44): Show CGCGCCCCGTGCCGCGCTGCGCCCCGTGCCGCGCTGCGCCCCGTGCCGCG CT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0010 a0002c0002t0002g0010	1	39	0.0256	51	c.-84 others(64): Show c.-84+40_-84+41insCTGCGCCCCGTGCCGCGCTGCGCCCCGTGCCG CGCTGCGCCCCGTGCCGCG	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KARS1_chr16_75622724_75652665	75627169	A A	ATACTTTT others(44): Show ATACTTTTCCCTCAGAAATACACATACTTTTCTGAGTATTTCCCTCAGAA AT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	378	0.0026	51	c.72 others(60): Show c.725_*726insATTTCTGAGGGAAATACTCAGAAAAGTATGTGTATT TCTGAGGGAAAAGTA	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		554		chr16	TogoVar
KAZN_chr1_14593685_15123043	14883337	A A	AGAGAGAG others(44): Show AGAGAGAGAGAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0142 a0001c0001t0008g0142	1	144	0.0069	51	c.227 others(70): Show c.227-77341_227-77340insGAGAGGAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGGGAGAGA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883351	A A	AGAGGGAG others(44): Show AGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAG AG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	132	0.0076	51	c.227 others(70): Show c.227-77333_227-77332insGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGAGAGAGAGAGAG	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14			chr1	TogoVar
KBTBD2_chr7_32863172_32896760	32891878	G G	GCCGCCCC others(44): Show GCCGCCCCCGCCGCCCCCGCCGCCCCCGCCCCCGCCCCCGCCGCCCCCGC CC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	390	0.0026	51	c.-68 others(60): Show c.-682_-681insGGGCGGGGGCGGCGGGGGCGGGGGCGGGGGCGGCGG GGGCGGCGGGGGCGG	KBTBD2	ENSG00000170852.12	transcript	ENST00000304056.9	protein_coding		119		chr7	TogoVar
KCMF1_chr2_84966161_85064472	85008354	A A	ATCATATA others(44): Show ATCATATATAATATATATCATATATAATATATAATGATATATATTATATA TG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02257.hp1 HG02280.hp2 others(2): Show HG01109.hp2 HG02257.hp1 HG02280.hp2 HG02818.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0248 a0001c0001t0008g0249 a0001c0001t0008g0250 others(2): Show a0001c0001t0008g0248 a0001c0001t0008g0249 a0001c0001t0008g0250 a0001c0001t0008g0251 a0001c0001t0008g0257	5	85	0.0588	51	c.17- others(68): Show c.17-19535_17-19534insTCATATATAATATATATCATATATAATA TATAATGATATATATTATATATG	KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6			chr2	TogoVar
KCNK2_chr1_215077737_215242090	215209807	T T	TATATATA others(44): Show TATATATAAATATATATTATATATAAAATATATATCATATATAAAATATA TA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0248 a0001c0002t0015g0248	1	258	0.0039	51	c.963 others(70): Show c.963+14749_963+14750insCATATATAAAATATATAATATATAAA TATATATTATATATAAAATATATAT	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK6_chr19_38314845_38337076	38328878	G G	GAGAGGAA others(44): Show GAGAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0073 a0002c0002t0073	a0002c0002t0073g0002 a0002c0002t0073g0002	1	314	0.0032	51	c.14 others(62): Show c.1478_*1479insGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGA	KCNK6	ENSG00000099337.5	transcript	ENST00000263372.5	protein_coding	3/3	1479	INFO_REALIGN_3_PRIME	chr19	TogoVar
KCNQ2_chr20_63395208_63477655	63442719	C C	CCACCACC others(44): Show CCACCACCATCACCACCACCACCACCACCACCATCACCACCATCACCACC AT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0090 a0002c0006t0090	a0002c0006t0090g0306 a0002c0006t0090g0306	1	192	0.0052	51	c.691 others(66): Show c.691-189_691-188insATGGTGGTGATGGTGGTGATGGTGGTGGTG GTGGTGGTGGTGATGGTGGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63442719	C C	CCATCACC others(44): Show CCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCACC AT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0272 a0001c0003t0003g0272	1	192	0.0052	51	c.691 others(66): Show c.691-189_691-188insATGGTGGTGATGGTGGTGATGGTGATGGTG GTGGTGGTGGTGGTGGTGATG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KCNS3_chr2_17873667_17937958	17887011	G G	GATGAGAA others(44): Show GATGAGAACCGAATTTTCTTCTCCCAGCCTCTCTAGACTTAAAGCAGCAC AC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02486.hp2 HG02738.hp1 others(9): Show HG01069.hp1 HG02486.hp2 HG02738.hp1 HG03098.hp1 HG03579.hp2 HG04115.hp1 NA18942.hp1 NA18954.hp1 NA18999.hp1 NA19043.hp1 NA19062.hp1 NA19089.hp2	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0001 a0001c0002 a0004c0008 others(1): Show a0001c0001 a0001c0002 a0004c0008 a0010c0015	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0004c0008t0001 a0010c0015t0001	a0001c0001t0001g0100 a0001c0001t0002g0011 a0001c0001t0002g0095 others(8): Show a0001c0001t0001g0100 a0001c0001t0002g0011 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0002t0001g0096 a0001c0002t0001g0099 a0001c0002t0003g0102 a0004c0008t0001g0101 a0004c0008t0001g0104 a0010c0015t0001g0103	12	382	0.0314	51	c.-25 others(70): Show c.-252+8206_-252+8256dupATGAGAACCGAATTTTCTTCTCCCAG CCTCTCTAGACTTAAAGCAGCACAC	KCNS3	ENSG00000170745.12	transcript	ENST00000304101.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
KDM1B_chr6_18150422_18228854	18155122	T T	TCCGCGCC others(44): Show TCCGCGCCCCGCCTCCGCCCGCGCCCCGCCTCCGCCCGCGCCCCGCCTCC GC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0356 a0001c0001t0001g0356	1	98	0.0102	51	c.-50 others(60): Show c.-507_-506insCCGCGCCCCGCCTCCGCCCGCGCCCCGCCTCCGCCC GCGCCCCGCCTCCGC	KDM1B	ENSG00000165097.16	transcript	ENST00000650836.2	protein_coding		299		chr6	TogoVar
KDM4C_chr9_6752973_7180648	7052909	G G	GAGACAGC others(44): Show GAGACAGCGAGCGAGCGAGCGAGCGAGAGATTGTTGTACAGTGGGGTGCT TT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0046 a0002c0046	a0002c0046t0001 a0002c0046t0001	a0002c0046t0001g0133 a0002c0046t0001g0133	1	114	0.0088	51	c.242 others(70): Show c.2424+3709_2424+3710insAGACAGCGAGCGAGCGAGCGAGCGAG AGATTGTTGTACAGTGGGGTGCTTT	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	17/21			chr9	TogoVar
KDM4C_chr9_6752973_7180648	7052909	G G	GAGAGAGC others(44): Show GAGAGAGCGAGAGAGCGAGCGAGCGAGAGATTGTTGTACAGTGGGGTGCT TT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp2 HG01346.hp1 others(10): Show HG00609.hp1 HG00639.hp2 HG01346.hp1 HG01884.hp1 HG02056.hp1 HG02258.hp1 HG02280.hp1 HG02602.hp2 HG02965.hp1 HG03225.hp1 NA18946.hp1 NA18947.hp1 NA20752.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0007 a0008 a0010	a0001c0002 a0002c0003 a0003c0007 others(5): Show a0001c0002 a0002c0003 a0003c0007 a0004c0005 a0007c0017 a0007c0020 a0008c0062 a0010c0013	a0001c0002t0002 a0001c0002t0004 a0002c0003t0001 others(6): Show a0001c0002t0002 a0001c0002t0004 a0002c0003t0001 a0003c0007t0001 a0004c0005t0002 a0007c0017t0001 a0007c0020t0001 a0008c0062t0001 a0010c0013t0007	a0001c0002t0002g0010 a0001c0002t0002g0064 a0001c0002t0004g0203 others(10): Show a0001c0002t0002g0010 a0001c0002t0002g0064 a0001c0002t0004g0203 a0001c0002t0004g0204 a0002c0003t0001g0242 a0003c0007t0001g0021 a0003c0007t0001g0085 a0004c0005t0002g0229 a0007c0017t0001g0006 a0007c0017t0001g0028 a0007c0020t0001g0173 a0008c0062t0001g0149 a0010c0013t0007g0088	13	126	0.1032	51	c.242 others(70): Show c.2424+3709_2424+3710insAGAGAGCGAGAGAGCGAGCGAGCGAG AGATTGTTGTACAGTGGGGTGCTTT	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	17/21			chr9	TogoVar
KHSRP_chr19_6408102_6429811	6411491	T T	TAAATAAA others(44): Show TAAATAAATAAATAAAACAGACCAGGGCGGCCTGATTATTCCTTACGTGC CC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG03209.hp2 HG03540.hp2 others(1): Show HG02647.hp2 HG03209.hp2 HG03540.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0022 a0001c0001t0033 a0001c0001t0041 others(1): Show a0001c0001t0022 a0001c0001t0033 a0001c0001t0041 a0001c0004t0016	a0001c0001t0022g0086 a0001c0001t0033g0085 a0001c0001t0041g0160 others(1): Show a0001c0001t0022g0086 a0001c0001t0033g0085 a0001c0001t0041g0160 a0001c0004t0016g0088	4	383	0.0104	51	c.35 others(62): Show c.3532_*3533insGGGCACGTAAGGAATAATCAGGCCGCCCTGGTCT GTTTTATTTATTTATTT	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		1610		chr19	TogoVar

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