Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CHRM2_chr7_136863652_137025213	136949459	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0218 a0001c0003t0023g0218	1	127	0.0079	17	c.-12 others(38): Show c.-124-42725_-124-42709dupAAAAAAAAAAAAAAAAA	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM3_chr1_239381568_239920450	239383054	G G	GTCTCTCT others(10): Show GTCTCTCTCTTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0066	1	49	0.0204	17	c.-46 others(28): Show c.-4694_-4693insTCTCTCTCTTCTCTCTC	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding		3513		chr1	TogoVar
CHRM3_chr1_239381568_239920450	239403976	G G	GAGAGAGA others(10): Show GAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0085 a0001c0001t0013g0085	1	19	0.0526	17	c.-52 others(38): Show c.-521+16749_-521+16750insAGAGAGAGAGAGAGAGA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6			chr1	TogoVar
CHRM3_chr1_239381568_239920450	239461435	T T	TTTTTATT others(10): Show TTTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0041 a0003c0004t0041	a0003c0004t0041g0043 a0003c0004t0041g0043	1	114	0.0088	17	c.-52 others(38): Show c.-520-31273_-520-31272insTTTATTTATTTATTTAT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239813916	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0102 a0001c0001t0040g0102	1	18	0.0556	17	c.-14 others(38): Show c.-146-13334_-146-13318dupAAAAAAAAAAAAAAAAA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRNA10_chr11_3660587_3676384	3663076	A A	ATCTCATC others(10): Show ATCTCATCTCATCTCATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	370	0.0027	17	c.30 others(28): Show c.3030_*3031insGATGAGATGAGATGAGA	CHRNA10	ENSG00000129749.3	transcript	ENST00000250699.2	protein_coding		2510		chr11	TogoVar
CHRNA2_chr8_27454756_27484261	27480723	A A	ATGTGCCT others(10): Show ATGTGCCTGCAGGCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0101 a0003c0003t0002g0101	1	456	0.0022	17	c.-20 others(28): Show c.-2037_-2036insGGGTGCCTGCAGGCACA	CHRNA2	ENSG00000120903.13	transcript	ENST00000407991.3	protein_coding		1463		chr8	TogoVar
CHRNA4_chr20_63338223_63366349	63353465	A A	AGGGGGGC others(10): Show AGGGGGGCTGTGGTCCTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01258.hp1 HG02015.hp1 others(15): Show HG00544.hp2 HG01258.hp1 HG02015.hp1 HG02129.hp2 HG02622.hp1 HG02630.hp2 HG03017.hp2 HG03239.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG04115.hp1 HG04204.hp2 NA18612.hp2 NA18747.hp2 NA19043.hp2 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0002c0017 a0001c0003 a0001c0004 a0002c0017	a0001c0003t0024 a0001c0004t0002 a0001c0004t0005 others(3): Show a0001c0003t0024 a0001c0004t0002 a0001c0004t0005 a0001c0004t0027 a0001c0004t0028 a0002c0017t0005	a0001c0003t0024g0040 a0001c0004t0002g0007 a0001c0004t0002g0016 others(14): Show a0001c0003t0024g0040 a0001c0004t0002g0007 a0001c0004t0002g0016 a0001c0004t0002g0046 a0001c0004t0002g0047 a0001c0004t0002g0048 a0001c0004t0002g0049 a0001c0004t0002g0065 a0001c0004t0002g0071 a0001c0004t0005g0013 a0001c0004t0005g0044 a0001c0004t0005g0045 a0001c0004t0005g0069 a0001c0004t0005g0070 a0001c0004t0027g0128 a0001c0004t0028g0135 a0002c0017t0005g0014	18	166	0.1084	17	c.384 others(34): Show c.384-2455_384-2439dupCAGGACCACAGCCCCCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	4/5			chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63353679	C C	CGGTCCTG others(10): Show CGGTCCTGGGGGGGCTGT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01943.hp1 HG01993.hp2 others(4): Show HG01106.hp2 HG01943.hp1 HG01993.hp2 HG02004.hp2 HG02080.hp2 NA18747.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0004 a0002c0006t0004 a0001c0001t0004 a0002c0006t0004	a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0117 others(2): Show a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0117 a0001c0001t0004g0123 a0002c0006t0004g0130	7	165	0.0424	17	c.383 others(34): Show c.383+2295_383+2296insACAGCCCCCCCAGGACC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	4/5			chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63353961	C C	CGGTCCTG others(10): Show CGGTCCTGGGGGGTCTGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00544.hp1 others(37): Show HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG01192.hp1 HG01346.hp2 HG01934.hp2 HG01943.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02486.hp2 HG02647.hp1 HG02738.hp2 HG02896.hp2 HG03017.hp1 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG03579.hp2 HG03831.hp2 NA18522.hp1 NA18747.hp1 NA18970.hp1 NA18970.hp2 NA19007.hp1 NA19066.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0006 a0003c0012 a0001c0001 a0002c0006 a0003c0012	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(9): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0001t0026 a0002c0006t0003 a0002c0006t0004 a0003c0012t0003	a0001c0001t0003g0002 a0001c0001t0003g0017 a0001c0001t0003g0021 others(30): Show a0001c0001t0003g0002 a0001c0001t0003g0017 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0043 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0004g0004 a0001c0001t0004g0012 a0001c0001t0004g0117 a0001c0001t0004g0119 a0001c0001t0004g0120 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0008g0083 a0001c0001t0008g0084 a0001c0001t0008g0121 a0001c0001t0015g0032 a0001c0001t0017g0042 a0001c0001t0018g0024 a0001c0001t0020g0025 a0001c0001t0023g0026 a0001c0001t0026g0126 a0002c0006t0003g0020 a0002c0006t0004g0130 a0003c0012t0003g0028	40	165	0.2424	17	c.383 others(34): Show c.383+2013_383+2014insACAGACCCCCCAGGACC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	4/5			chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63353985	G G	GGGGGGTC others(10): Show GGGGGGTCTGTGGTCCTA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0019 a0001c0001t0021g0019	1	161	0.0062	17	c.383 others(34): Show c.383+1989_383+1990insTAGGACCACAGACCCCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	4/5			chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63359913	G G	GCCGGCGT others(10): Show GCCGGCGTGCGCTGTGTA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0016 a0001c0004t0002g0016	1	156	0.0064	17	c.77- others(30): Show c.77-215_77-214insTACACAGCGCACGCCGG	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	1/5			chr20	TogoVar
CHRNA5_chr15_78560520_78600269	78570424	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	89	0.0112	17	c.106 others(34): Show c.106+4608_106+4624dupTTTTTTTTTTTTTTTTT	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
CHRNA7_chr15_32025515_32178018	32044253	C C	CTCCCTTC others(10): Show CTCCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02970.hp1 HG02723.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0002t0002 a0001c0001t0015 a0001c0002t0002	a0001c0001t0015g0215 a0001c0002t0002g0216 a0001c0001t0015g0215 a0001c0002t0002g0216	2	24	0.0833	17	c.195 others(36): Show c.195+13219_195+13220insCTTCCTTCCTTCCTTCC	CHRNA7	ENSG00000175344.19	transcript	ENST00000306901.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
CHRNA7_chr15_32025515_32178018	32098871	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0260 a0001c0003t0001g0260	1	8	0.1250	17	c.196 others(34): Show c.196-2432_196-2431insCACACACACACACACAC	CHRNA7	ENSG00000175344.19	transcript	ENST00000306901.9	protein_coding	2/9			chr15	TogoVar
CHRNA7_chr15_32025515_32178018	32164913	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG06807.hp2 HG01071.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0009 a0001c0010t0009 a0001c0001t0009 a0001c0010t0009	a0001c0001t0009g0204 a0001c0010t0009g0114 a0001c0001t0009g0204 a0001c0010t0009g0114	2	29	0.0690	17	c.990 others(34): Show c.990+1593_990+1609dupAAAAAAAAAAAAAAAAA	CHRNA7	ENSG00000175344.19	transcript	ENST00000306901.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
CHRNB3_chr8_42692366_42742407	42717403	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp2 HG02132.hp1 others(3): Show HG02015.hp1 HG02015.hp2 HG02132.hp1 HG02523.hp1 NA18747.hp1 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0013 a0001c0001t0002g0178 others(2): Show a0001c0001t0002g0006 a0001c0001t0002g0013 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0209	6	21	0.2857	17	c.249 others(34): Show c.249+6971_249+6972insAAAAAAAAAAAAAAGAA	CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHRND_chr2_232521160_232541664	232531946	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0092 a0001c0002t0002g0092	1	120	0.0083	17	c.104 others(34): Show c.1047+302_1047+318dupAAAAAAAAAAAAAAAAA	CHRND	ENSG00000135902.10	transcript	ENST00000258385.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
CHST11_chr12_104451948_104767014	104475658	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0127 a0001c0001t0005g0127	1	92	0.0109	17	c.118 others(36): Show c.118+18129_118+18130insATATATATATATATATA	CHST11	ENSG00000171310.11	transcript	ENST00000303694.6	protein_coding	1/2			chr12	TogoVar
CHST11_chr12_104451948_104767014	104475688	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	158	0.0063	17	c.118 others(36): Show c.118+18162_118+18163insATATATATATATATTAT	CHST11	ENSG00000171310.11	transcript	ENST00000303694.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHST11_chr12_104451948_104767014	104544769	T T	TCCCCCCC others(10): Show TCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03654.hp2 HG00323.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0021 a0001c0001t0003 a0001c0001t0021	a0001c0001t0003g0146 a0001c0001t0021g0183 a0001c0001t0003g0146 a0001c0001t0021g0183	2	84	0.0238	17	c.119 others(36): Show c.119-57131_119-57130insCCCCCCCCCCCCCCCCC	CHST11	ENSG00000171310.11	transcript	ENST00000303694.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHST11_chr12_104451948_104767014	104544769	T T	TCCCCCCC others(10): Show TCCCCCCCCGCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02965.hp1 HG02965.hp2 others(3): Show HG02615.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03239.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0022 a0001c0001t0050	a0001c0001t0002g0199 a0001c0001t0002g0217 a0001c0001t0003g0083 others(3): Show a0001c0001t0002g0199 a0001c0001t0002g0217 a0001c0001t0003g0083 a0001c0001t0005g0027 a0001c0001t0022g0185 a0001c0001t0050g0150	6	88	0.0682	17	c.119 others(36): Show c.119-57131_119-57130insCCGCCCCCCCCCCCCCC	CHST11	ENSG00000171310.11	transcript	ENST00000303694.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHST11_chr12_104451948_104767014	104583721	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0003 a0001c0001t0054g0003	1	230	0.0043	17	c.119 others(36): Show c.119-18177_119-18176insTTTTTTTTTTTTTTTTT	CHST11	ENSG00000171310.11	transcript	ENST00000303694.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHST11_chr12_104451948_104767014	104686232	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02257.hp1 HG01978.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0039 a0001c0001t0020 a0001c0001t0039	a0001c0001t0020g0160 a0001c0001t0039g0094 a0001c0001t0020g0160 a0001c0001t0039g0094	2	68	0.0294	17	c.205 others(36): Show c.205-70716_205-70700dupAAAAAAAAAAAAAAAAA	CHST11	ENSG00000171310.11	transcript	ENST00000303694.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHST11_chr12_104451948_104767014	104750428	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	72	0.0139	17	c.205 others(34): Show c.205-6509_205-6493dupTTTTTTTTTTTTTTTTT	CHST11	ENSG00000171310.11	transcript	ENST00000303694.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHST12_chr7_2398611_2453484	2425691	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0291 a0001c0001t0291	a0001c0001t0291g0105 a0001c0001t0291g0105	1	312	0.0032	17	c.-77 others(34): Show c.-77-6858_-77-6857insTTTTTTTTTTTTTTTTT	CHST12	ENSG00000136213.10	transcript	ENST00000618655.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHST15_chr10_124002668_124098598	124043945	A A	ACAGCACA others(10): Show ACAGCACAGAGCAGGGAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG03710.hp2 HG01069.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0147 a0001c0001t0003g0022 a0001c0001t0001g0147 a0001c0001t0003g0022	2	377	0.0053	17	c.886 others(32): Show c.886+618_886+634dupCTCCCTGCTCTGTGCTG	CHST15	ENSG00000182022.18	transcript	ENST00000435907.6	protein_coding	3/7			chr10	TogoVar
CHST15_chr10_124002668_124098598	124045112	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02109.hp2 NA20805.hp1 HG00280.hp2 HG02109.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0017 a0001c0001t0003 a0001c0003t0017	a0001c0001t0003g0090 a0001c0003t0017g0107 a0001c0003t0017g0108 a0001c0001t0003g0090 a0001c0003t0017g0107 a0001c0003t0017g0108	3	281	0.0107	17	c.547 others(32): Show c.547-210_547-194dupTTTTTTTTTTTTTTTTT	CHST15	ENSG00000182022.18	transcript	ENST00000435907.6	protein_coding	2/7			chr10	TogoVar
CHST6_chr16_75467052_75500441	75491190	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG04184.hp1 HG02895.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0075 a0001c0001t0012 a0001c0001t0075	a0001c0001t0012g0021 a0001c0001t0075g0055 a0001c0001t0012g0021 a0001c0001t0075g0055	2	107	0.0187	17	c.-92 others(34): Show c.-92+3749_-92+3750insATATATATATATTTTTT	CHST6	ENSG00000183196.10	transcript	ENST00000332272.9	protein_coding	1/2			chr16	TogoVar
CHST8_chr19_33616953_33778506	33695821	C C	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03209.hp2 HG03130.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0209 a0001c0003t0003g0212 a0001c0001t0001g0209 a0001c0003t0003g0212	2	144	0.0139	17	c.130 others(34): Show c.130+6433_130+6434insCTTTCTTTCTTTTTTTT	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33755471	A A	AGTGAATC others(10): Show AGTGAATCACCTCTCACT	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA19010.hp2 HG01081.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0226 a0001c0001t0001g0100 a0001c0001t0001g0226	2	252	0.0079	17	c.131 others(36): Show c.131-15926_131-15925insTGTGAATCACCTCTCAC	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757460	A A	AGAGAGAG others(10): Show AGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	240	0.0042	17	c.131 others(36): Show c.131-13953_131-13952insGAGAGAGAGAGAGAGAG	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4			chr19	TogoVar
CHST8_chr19_33616953_33778506	33757472	A A	AGAGAGAG others(10): Show AGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	226	0.0044	17	c.131 others(36): Show c.131-13941_131-13940insGAGAGAGAGAGAGAGAG	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4			chr19	TogoVar
CHST9_chr18_26901481_27190308	27053195	A A	AAGAAGAA others(10): Show AAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0054 a0002c0003t0054	a0002c0003t0054g0112 a0002c0003t0054g0112	1	245	0.0041	17	c.122 others(34): Show c.122-4693_122-4692insCTTCTTCTTCTTCTTCT	CHST9	ENSG00000154080.14	transcript	ENST00000618847.5	protein_coding	2/5			chr18	TogoVar
CHSY3_chr5_129899465_130191634	130020461	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0008 a0002c0007t0008	a0002c0007t0008g0243 a0002c0007t0008g0243	1	135	0.0074	17	c.108 others(40): Show c.1086+112102_1086+112103insATATATATATATATTTT	CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHSY3_chr5_129899465_130191634	130020462	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0250 a0002c0003t0010g0251 a0002c0003t0010g0250 a0002c0003t0010g0251	2	267	0.0075	17	c.108 others(40): Show c.1086+112102_1086+112103insATATATATATATATATA	CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2			chr5	TogoVar
CHSY3_chr5_129899465_130191634	130178253	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0225 a0002c0003t0002g0225	1	76	0.0132	17	c.108 others(36): Show c.1087-5975_1087-5974insATATATATATATATATT	CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHURC1_chr14_64909455_64940368	64923273	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0068 a0001c0001t0004g0068	1	274	0.0036	17	c.40- others(30): Show c.40-704_40-703insAAAAAAAAAAAAAAAAA	CHURC1	ENSG00000258289.10	transcript	ENST00000549115.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr14	TogoVar
CIB2_chr15_78099606_78136445	78117246	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp2 HG01515.hp1 others(13): Show HG00323.hp2 HG00733.hp2 HG01515.hp1 HG02129.hp1 HG02129.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02698.hp1 HG02895.hp2 HG02897.hp1 HG03239.hp1 HG03834.hp1 NA18966.hp1 NA18994.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0001t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0151 others(13): Show a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0207 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0234 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0006g0050 a0001c0002t0001g0143	16	71	0.2254	17	c.87- others(32): Show c.87-5987_87-5971dupTTTTTTTTTTTTTTTTT	CIB2	ENSG00000136425.14	transcript	ENST00000258930.8	protein_coding	2/5			chr15	TogoVar
CIB4_chr2_26576205_26646366	26601231	A A	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0311 a0001c0004t0001g0311	1	294	0.0034	17	c.187 others(34): Show c.187-5915_187-5914insATATATATTTTTTTTTT	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	3/6			chr2	TogoVar
CIBAR1_chr8_93695550_93736527	93695813	G G	GCAAAAAA others(10): Show GCAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01981.hp1 HG04115.hp2 HG01952.hp1 HG01981.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0095 a0001c0001t0001g0107 a0001c0001t0001g0002 a0001c0001t0001g0095 a0001c0001t0001g0107	3	121	0.0248	17	c.-48 others(28): Show c.-4835_-4834insCAAAAAAAAAAAAAAAA	CIBAR1	ENSG00000188343.14	transcript	ENST00000518322.6	protein_coding		4736		chr8	TogoVar
CIDEA_chr18_12249361_12282595	12270688	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	35	0.0286	17	c.331 others(34): Show c.331-3393_331-3377dupAAAAAAAAAAAAAAAAA	CIDEA	ENSG00000176194.18	transcript	ENST00000320477.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
CINP_chr14_102343282_102367890	102359227	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	159	0.0063	17	c.176 others(32): Show c.176+191_176+192insATATATATATATATATA	CINP	ENSG00000100865.15	transcript	ENST00000216756.11	protein_coding	2/4			chr14	TogoVar
CIP2A_chr3_108544864_108594438	108553894	T T	TACAAAAA others(10): Show TACAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0007 a0005c0006t0007	a0005c0006t0007g0290 a0005c0006t0007g0290	1	117	0.0085	17	c.232 others(34): Show c.2325-165_2325-164insTTTTTTTTTTTTTTTGT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	18/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108580436	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	50	0.0200	17	c.550 others(32): Show c.550-749_550-748insGTGTGTGTGTGTGTGTG	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	5/20			chr3	TogoVar
CIR1_chr2_174343022_174400712	174356522	A A	AGGAAGGA others(10): Show AGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	345	0.0029	17	c.485 others(34): Show c.485-4798_485-4797insCTTCCTTCCTTCCTTCC	CIR1	ENSG00000138433.16	transcript	ENST00000342016.8	protein_coding	7/9			chr2	TogoVar
CIR1_chr2_174343022_174400712	174356526	A A	AGGAAGGA others(10): Show AGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG00673.hp1 others(20): Show HG00558.hp1 HG00621.hp2 HG00673.hp1 HG01192.hp2 HG01257.hp1 HG01258.hp1 HG01981.hp1 HG02015.hp1 HG02040.hp1 HG02040.hp2 NA18955.hp1 NA18962.hp2 NA18977.hp2 NA18986.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19006.hp1 NA19056.hp1 NA19058.hp2 NA19078.hp2 NA19085.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0119 others(18): Show a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0119 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0283 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0004c0004t0001g0287 a0004c0004t0001g0289	23	180	0.1278	17	c.485 others(34): Show c.485-4802_485-4801insCTTCCTTCCTTCCTTCC	CIR1	ENSG00000138433.16	transcript	ENST00000342016.8	protein_coding	7/9			chr2	TogoVar
CISD2_chr4_102863992_102897807	102890840	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0032 a0001c0001t0012g0032	1	128	0.0078	17	c.34 others(28): Show c.3423_*3424insAAAAAAAAAAAAAAAAA	CISD2	ENSG00000145354.12	transcript	ENST00000273986.10	protein_coding	3/3	3424	INFO_REALIGN_3_PRIME	chr4	TogoVar
CIT_chr12_119680791_119882320	119717838	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00733.hp2 HG01257.hp1 others(21): Show HG00408.hp2 HG00733.hp2 HG01257.hp1 HG01515.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG02083.hp1 HG02083.hp2 HG02165.hp2 HG02293.hp1 HG02523.hp2 HG02818.hp1 HG03834.hp2 HG04204.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18960.hp2 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA19012.hp1 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0023 a0002c0016 a0001c0001 a0001c0023 a0002c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0015 a0001c0023t0004 a0002c0016t0001	a0001c0001t0001g0049 a0001c0001t0001g0097 a0001c0001t0001g0121 others(21): Show a0001c0001t0001g0049 a0001c0001t0001g0097 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0180 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0225 a0001c0001t0002g0110 a0001c0001t0002g0120 a0001c0001t0004g0148 a0001c0001t0004g0163 a0001c0001t0004g0194 a0001c0001t0006g0116 a0001c0001t0006g0119 a0001c0001t0015g0094 a0001c0023t0004g0059 a0002c0016t0001g0061	24	105	0.2286	17	c.416 others(34): Show c.4168+390_4168+406dupAAAAAAAAAAAAAAAAA	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	32/47			chr12	TogoVar
CIT_chr12_119680791_119882320	119745374	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp1 HG03139.hp1 HG02109.hp2 HG02280.hp1 HG03139.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0210 a0001c0008t0001g0211 a0001c0008t0001g0212 a0001c0008t0001g0210 a0001c0008t0001g0211 a0001c0008t0001g0212	3	9	0.3333	17	c.290 others(36): Show c.2905-2927_2905-2911dupTTTTTTTTTTTTTTTTT	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	23/47			chr12	TogoVar

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