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
CRLF2_chrX_1185490_1217649	1213245	T T	TCCCCTCC others(12): Show TCCCCTCCCCTCCCCCCACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0025 a0002c0004t0001g0025	1	137	0.0073	19	c.-61 others(28): Show c.-612_-611insGGTGGGGGGAGGGGAGGGG	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding		597		chrX	TogoVar
CRLS1_chr20_6001123_6045053	6011572	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00642.hp2 HG01167.hp1 others(18): Show HG00609.hp2 HG00642.hp2 HG01167.hp1 HG01952.hp1 HG02027.hp1 HG02647.hp2 HG03209.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03831.hp1 NA18953.hp2 NA18972.hp2 NA18983.hp1 NA18985.hp2 NA18994.hp1 NA19007.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0022	a0001c0001t0001g0008 a0001c0001t0001g0031 a0001c0001t0001g0032 others(14): Show a0001c0001t0001g0008 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0167 a0001c0001t0001g0209 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0298 a0001c0001t0002g0153 a0001c0001t0005g0032 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0008g0236 a0001c0001t0022g0297	21	50	0.4200	19	c.444 others(36): Show c.444+1676_444+1694dupTTTTTTTTTTTTTTTTTTT	CRLS1	ENSG00000088766.12	transcript	ENST00000378863.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
CRMP1_chr4_5815764_5898086	5837654	A A	AAAATAAA others(12): Show AAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01069.hp1 HG01071.hp1 others(21): Show HG00558.hp1 HG01069.hp1 HG01071.hp1 HG01243.hp1 HG02109.hp1 HG02258.hp1 HG02451.hp1 HG02572.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03239.hp1 HG03453.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG06807.hp2 NA18522.hp2 NA18969.hp2 NA19084.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0008 others(5): Show a0001c0002 a0001c0003 a0001c0008 a0001c0012 a0001c0031 a0002c0005 a0002c0007 a0002c0017	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(6): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0008t0003 a0001c0012t0001 a0001c0031t0004 a0002c0005t0004 a0002c0007t0003 a0002c0017t0001	a0001c0002t0001g0069 a0001c0002t0002g0002 a0001c0002t0002g0004 others(19): Show a0001c0002t0001g0069 a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0092 a0001c0002t0002g0125 a0001c0002t0002g0228 a0001c0003t0001g0089 a0001c0003t0001g0105 a0001c0008t0003g0065 a0001c0008t0003g0184 a0001c0012t0001g0057 a0001c0012t0001g0187 a0001c0012t0001g0190 a0001c0012t0001g0191 a0001c0031t0004g0301 a0002c0005t0004g0011 a0002c0007t0003g0033 a0002c0007t0003g0034 a0002c0007t0003g0039 a0002c0007t0003g0041 a0002c0017t0001g0013 a0002c0017t0001g0031	24	312	0.0769	19	c.131 others(36): Show c.1311-767_1311-749dupATTTTATTTTATTTTATTT	CRMP1	ENSG00000072832.15	transcript	ENST00000324989.12	protein_coding	9/13			chr4	TogoVar
CROCC2_chr2_240901336_240998311	240923783	G G	GCCCCCCA others(12): Show GCCCCCCACACTAACCCGGC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0057 a0057	a0057c0031 a0057c0031	a0057c0031t0001 a0057c0031t0001	a0057c0031t0001g0179 a0057c0031t0001g0179	1	288	0.0035	19	c.488 others(36): Show c.488+1143_488+1144insCACACTAACCCGGCCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923800	G G	GCCCCCAA others(12): Show GCCCCCAACACTAACCCAGC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0051 a0051	a0051c0051 a0051c0051	a0051c0051t0001 a0051c0051t0001	a0051c0051t0001g0087 a0051c0051t0001g0087	1	280	0.0036	19	c.488 others(36): Show c.488+1161_488+1162insACACTAACCCAGCCCCCCA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923905	G G	GCCCCCCA others(12): Show GCCCCCCACACTAACCCGGC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0258 a0008c0008t0002g0258	1	223	0.0045	19	c.488 others(36): Show c.488+1265_488+1266insCACACTAACCCGGCCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923922	G G	GCCCCCCA others(12): Show GCCCCCCACACTAACCCGGC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0334 a0001c0001t0004g0334	1	213	0.0047	19	c.488 others(36): Show c.488+1282_488+1283insCACACTAACCCGGCCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924220	G G	GCCCCCCA others(12): Show GCCCCCCACACTAACCCGGC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02970.hp2 HG02647.hp2 HG02970.hp2	a0020 a0042 a0020 a0042	a0020c0028 a0042c0027 a0020c0028 a0042c0027	a0020c0028t0001 a0042c0027t0003 a0020c0028t0001 a0042c0027t0003	a0020c0028t0001g0048 a0042c0027t0003g0047 a0020c0028t0001g0048 a0042c0027t0003g0047	2	299	0.0067	19	c.489 others(36): Show c.489-1499_489-1498insCACACTAACCCGGCCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924272	G G	GCCCCCCA others(12): Show GCCCCCCACACTAACCCGGC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0060 a0001c0060	a0001c0060t0001 a0001c0060t0001	a0001c0060t0001g0171 a0001c0060t0001g0171	1	260	0.0038	19	c.489 others(36): Show c.489-1447_489-1446insCACACTAACCCGGCCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924444	G G	GCCCCTCA others(12): Show GCCCCTCACACTAACCCGGC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0215 a0010c0010t0001g0215	1	292	0.0034	19	c.489 others(36): Show c.489-1276_489-1275insTCACACTAACCCGGCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924512	C C	CAGCCCCC others(12): Show CAGCCCCCAACACTAACCCG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0290 a0002c0002t0002g0290	1	340	0.0029	19	c.489 others(36): Show c.489-1212_489-1211insAGCCCCCAACACTAACCCG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924814	C C	CTCACACT others(12): Show CTCACACTAACCCGGCCCCT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02145.hp1 HG00642.hp2 HG02145.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0002 a0001c0024t0002	a0001c0024t0002g0341 a0001c0024t0002g0342 a0001c0024t0002g0341 a0001c0024t0002g0342	2	346	0.0058	19	c.489 others(34): Show c.489-910_489-909insTCACACTAACCCGGCCCCT	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924878	G G	GCCCCCCA others(12): Show GCCCCCCACACTAACCCAGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG00621.hp2 others(23): Show HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG01074.hp1 HG01358.hp2 HG02015.hp1 HG02129.hp1 HG02155.hp1 HG02572.hp2 HG02622.hp2 HG02723.hp2 HG02735.hp2 HG02896.hp1 HG03209.hp1 HG03492.hp1 NA18952.hp1 NA18954.hp2 NA18966.hp1 NA18979.hp1 NA19012.hp1 NA19067.hp2 NA19070.hp1 NA19079.hp2 NA19080.hp2	a0001 a0002 a0008 others(4): Show a0001 a0002 a0008 a0022 a0024 a0039 a0046	a0001c0001 a0001c0022 a0002c0002 others(6): Show a0001c0001 a0001c0022 a0002c0002 a0002c0033 a0008c0008 a0022c0091 a0024c0057 a0039c0090 a0046c0034	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0022t0002 a0002c0002t0001 a0002c0002t0002 a0002c0033t0002 a0008c0008t0002 a0022c0091t0001 a0024c0057t0002 a0039c0090t0001 a0046c0034t0002	a0001c0001t0001g0177 a0001c0001t0001g0191 a0001c0001t0002g0262 others(23): Show a0001c0001t0001g0177 a0001c0001t0001g0191 a0001c0001t0002g0262 a0001c0001t0002g0280 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0322 a0001c0001t0002g0343 a0001c0001t0003g0159 a0001c0001t0003g0198 a0001c0001t0004g0289 a0001c0022t0002g0318 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0002g0261 a0002c0002t0002g0279 a0002c0002t0002g0292 a0002c0002t0002g0308 a0002c0033t0002g0283 a0008c0008t0002g0260 a0008c0008t0002g0302 a0022c0091t0001g0156 a0024c0057t0002g0338 a0039c0090t0001g0144 a0046c0034t0002g0310	26	324	0.0802	19	c.489 others(34): Show c.489-841_489-840insCACACTAACCCAGTCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924878	G G	GCCCCCCA others(12): Show GCCCCCCACACTACCCCGGC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0298 a0001c0001t0002g0298	1	299	0.0033	19	c.489 others(34): Show c.489-841_489-840insCACACTACCCCGGCCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924912	G G	GCCCCCCA others(12): Show GCCCCCCACACTAACCCAGC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0185 a0001c0001t0003g0185	1	315	0.0032	19	c.489 others(34): Show c.489-807_489-806insCACACTAACCCAGCCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRPPA_chr7_16082525_16426538	16387066	T T	TATATATA others(12): Show TATATATATATATATAACAC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0007	1	218	0.0046	19	c.535 others(38): Show c.535-10826_535-10825insGTGTTATATATATATATAT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	2/9			chr7	TogoVar
CRPPA_chr7_16082525_16426538	16389913	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18946.hp1 NA18966.hp2 others(3): Show HG04199.hp1 NA18946.hp1 NA18966.hp2 NA18978.hp2 NA18998.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0058	a0001c0001t0002g0167 a0001c0001t0004g0197 a0001c0001t0005g0187 others(3): Show a0001c0001t0002g0167 a0001c0001t0004g0197 a0001c0001t0005g0187 a0001c0001t0007g0032 a0001c0001t0009g0165 a0001c0001t0058g0186	6	187	0.0321	19	c.535 others(38): Show c.535-13673_535-13672insTTTTTTTTTTTTTTTTTTT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	2/9			chr7	TogoVar
CRPPA_chr7_16082525_16426538	16389928	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03098.hp1 NA19062.hp1 others(1): Show HG02135.hp2 HG03098.hp1 NA19062.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0002g0173 a0001c0001t0003g0199 a0001c0001t0005g0172 others(1): Show a0001c0001t0002g0173 a0001c0001t0003g0199 a0001c0001t0005g0172 a0001c0001t0006g0157	4	115	0.0348	19	c.535 others(38): Show c.535-13688_535-13687insATTTTTTTTTTTTTTTTTT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	2/9			chr7	TogoVar
CRPPA_chr7_16082525_16426538	16389928	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0042 a0001c0001t0015g0042	1	112	0.0089	19	c.535 others(38): Show c.535-13688_535-13687insATATATATATATTTTTTTT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	2/9			chr7	TogoVar
CRTAC1_chr10_97860000_98035621	98005100	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	65	0.0154	19	c.224 others(36): Show c.224+6037_224+6038insAAAAATATATATATATATA	CRTAC1	ENSG00000095713.14	transcript	ENST00000370597.8	protein_coding	2/14			chr10	TogoVar
CRTAC1_chr10_97860000_98035621	98005100	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0016 a0001c0003t0001g0016	1	65	0.0154	19	c.224 others(36): Show c.224+6037_224+6038insAAAAAAAAATATATATATA	CRTAC1	ENSG00000095713.14	transcript	ENST00000370597.8	protein_coding	2/14			chr10	TogoVar
CRTAC1_chr10_97860000_98035621	98005100	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03225.hp2 HG01496.hp1 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0021 a0001c0004t0001g0007 a0001c0002t0001g0021 a0001c0004t0001g0007	2	66	0.0303	19	c.224 others(36): Show c.224+6037_224+6038insAAAAAAAAAAATATATATA	CRTAC1	ENSG00000095713.14	transcript	ENST00000370597.8	protein_coding	2/14			chr10	TogoVar
CRTAM_chr11_122833500_122877643	122875438	A A	ATATATAT others(12): Show ATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0001 a0001c0001t0008g0001	1	298	0.0034	19	c.40 others(30): Show c.4039_*4040insTATATATATATATATATAT	CRTAM	ENSG00000109943.9	transcript	ENST00000227348.9	protein_coding		2796		chr11	TogoVar
CRTC1_chr19_18678680_18787333	18728815	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02965.hp1 HG03471.hp1 others(1): Show HG02886.hp1 HG02965.hp1 HG03471.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0030 a0001c0001t0001 a0001c0001t0030	a0001c0001t0001g0131 a0001c0001t0001g0141 a0001c0001t0001g0226 others(1): Show a0001c0001t0001g0131 a0001c0001t0001g0141 a0001c0001t0001g0226 a0001c0001t0030g0076	4	94	0.0426	19	c.127 others(38): Show c.127-14080_127-14079insTTTTTTTTTTTTTTTTTTT	CRTC1	ENSG00000105662.16	transcript	ENST00000321949.13	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CRTC1_chr19_18678680_18787333	18786763	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	49	0.0204	19	c.93 others(30): Show c.9381_*9382insTTTTTTTTTTTTTTTTTTT	CRTC1	ENSG00000105662.16	transcript	ENST00000321949.13	protein_coding		4431		chr19	TogoVar
CRTC3_chr15_90524923_90650345	90641685	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0031 a0002c0002t0031	a0002c0002t0031g0025 a0002c0002t0031g0025	1	202	0.0050	19	c.165 others(36): Show c.1652-234_1652-233insAAAAAAAAAAAAAAAAAAA	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
CRTC3_chr15_90524923_90650345	90647303	A A	ACCCCTAC others(12): Show ACCCCTACTCCTCCTCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG04199.hp1 HG01515.hp2 HG01517.hp1 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0038 a0001c0001t0001g0039 a0002c0002t0001g0193 a0001c0001t0001g0038 a0001c0001t0001g0039 a0002c0002t0001g0193	3	222	0.0135	19	c.51 others(30): Show c.5163_*5164insCCCCTACTCCTCCTCACCC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1959		chr15	TogoVar
CRTC3_chr15_90524923_90650345	90647482	C C	CTCCTCCA others(12): Show CTCCTCCACACCCCTCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01258.hp1 HG01123.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	274	0.0073	19	c.53 others(30): Show c.5342_*5343insTCCTCCACACCCCTCCTCA	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2138		chr15	TogoVar
CRX_chr19_47816937_47848324	47835620	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0253 a0001c0001t0069g0253	1	201	0.0050	19	c.101 others(34): Show c.101-622_101-604dupTTTTTTTTTTTTTTTTTTT	CRX	ENSG00000105392.17	transcript	ENST00000221996.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CRX_chr19_47816937_47848324	47844574	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0265 a0001c0001t0031g0265	1	148	0.0068	19	c.46 others(30): Show c.4607_*4608insTTTTTTTTTTTTTTTTTTT	CRX	ENSG00000105392.17	transcript	ENST00000221996.12	protein_coding		1251		chr19	TogoVar
CRY2_chr11_45842475_45888244	45844931	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01517.hp1 HG01069.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0010 a0001c0001t0006g0105 a0001c0001t0006g0010 a0001c0001t0006g0105	2	307	0.0065	19	c.-25 others(30): Show c.-2560_-2559insAAAAAAAAAAAAAAAAAAA	CRY2	ENSG00000121671.12	transcript	ENST00000616080.2	protein_coding		2543		chr11	TogoVar
CRYBB2_chr22_25214639_25236869	25218779	G G	GAAGAAAG others(12): Show GAAGAAAGAAAGAAAGAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	167	0.0060	19	c.-91 others(28): Show c.-914_-913insAAGAAAGAAAGAAAGAAGA	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding		859		chr22	TogoVar
CRYBG1_chr6_106355717_106577017	106361970	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02109.hp2 HG02280.hp1 HG00642.hp1 HG02109.hp2 HG02280.hp1	a0002 a0035 a0002 a0035	a0002c0003 a0035c0062 a0002c0003 a0035c0062	a0002c0003t0006 a0002c0003t0010 a0035c0062t0015 a0002c0003t0006 a0002c0003t0010 a0035c0062t0015	a0002c0003t0006g0211 a0002c0003t0010g0221 a0035c0062t0015g0208 a0002c0003t0006g0211 a0002c0003t0010g0221 a0035c0062t0015g0208	3	226	0.0133	19	c.173 others(34): Show c.173+891_173+892insCTTTCTTTCTTTCTTTCTT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106377621	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0003 a0007c0007t0003	a0007c0007t0003g0270 a0007c0007t0003g0270	1	220	0.0045	19	c.173 others(38): Show c.173+16540_173+16541insATATATATATATATATATA	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21			chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106422340	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0068 a0068	a0068c0043 a0068c0043	a0068c0043t0013 a0068c0043t0013	a0068c0043t0013g0210 a0068c0043t0013g0210	1	266	0.0038	19	c.174 others(38): Show c.174-29351_174-29350insTTTTTTTTTTTTTTTTTTT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG2_chr1_26316865_26359130	26333014	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01258.hp1 NA20805.hp1 HG01123.hp2 HG01258.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0134 a0001c0002t0001g0150 a0001c0002t0001g0175 a0001c0002t0001g0134 a0001c0002t0001g0150 a0001c0002t0001g0175	3	83	0.0361	19	c.418 others(38): Show c.4185-1415_4185-1397dupTTTTTTTTTTTTTTTTTTT	CRYBG2	ENSG00000176092.17	transcript	ENST00000308182.10	protein_coding	14/19			chr1	TogoVar
CRYGN_chr7_151423832_151445141	151428290	C C	CTTCTTTT others(12): Show CTTCTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG03491.hp1 NA18942.hp2 others(1): Show HG00639.hp2 HG03491.hp1 NA18942.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0004 a0001c0003t0001g0007 a0001c0003t0001g0076 a0001c0001t0002g0004 a0001c0003t0001g0007 a0001c0003t0001g0076	4	191	0.0209	19	c.17 others(30): Show c.1757_*1758insAAAAAAAAAAAAAAAAGAA	CRYGN	ENSG00000127377.10	transcript	ENST00000337323.3	protein_coding		541		chr7	TogoVar
CRYL1_chr13_20398669_20530857	20420700	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01261.hp2 HG01071.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0201 a0001c0002t0001g0208 a0001c0001t0001g0201 a0001c0002t0001g0208	2	113	0.0177	19	c.634 others(36): Show c.634-7314_634-7313insAAAAAAAAAAAAAAAAAAA	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	5/7			chr13	TogoVar
CRYL1_chr13_20398669_20530857	20420701	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0018 a0001c0003t0001g0019	2	152	0.0132	19	c.634 others(36): Show c.634-7315_634-7314insCACACACAAAAAAAAAAAA	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	5/7			chr13	TogoVar
CRYL1_chr13_20398669_20530857	20420701	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTGTGTG	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA20752.hp1 NA20905.hp1 HG06807.hp1 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0130	3	153	0.0196	19	c.634 others(36): Show c.634-7315_634-7314insCACACAAAAAAAAAAAAAA	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	5/7			chr13	TogoVar
CRYL1_chr13_20398669_20530857	20470910	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0189 a0001c0002t0001g0189	1	201	0.0050	19	c.276 others(38): Show c.276+18459_276+18460insTTTTTTTTTTTTTTTTTTT	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	3/7			chr13	TogoVar
CRYZL1_chr21_33584341_33646741	33605530	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03669.hp2 HG03492.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0331 a0001c0001t0001g0332	2	4	0.5000	19	c.332 others(36): Show c.332-1994_332-1993insAAAAAAAAAAAAAAAAAAA	CRYZL1	ENSG00000205758.12	transcript	ENST00000381554.8	protein_coding	6/12			chr21	TogoVar
CSAD_chr12_53152663_53185925	53184114	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	200	0.0050	19	c.-34 others(30): Show c.-3474_-3473insACACACACACACACACACA	CSAD	ENSG00000139631.20	transcript	ENST00000444623.6	protein_coding		3190		chr12	TogoVar
CSF1R_chr5_150048295_150091554	150084396	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0167 a0001c0004t0001g0167	1	403	0.0025	19	c.49+ others(34): Show c.49+1982_49+1983insCTTTCTTTCTTTCTTTCTT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF1R_chr5_150048295_150091554	150085277	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG01109.hp2 others(31): Show HG00408.hp2 HG00558.hp1 HG01109.hp2 HG01891.hp1 HG01978.hp2 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02132.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02300.hp2 HG02451.hp2 HG02572.hp1 HG02723.hp1 HG03225.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG04228.hp2 HG06807.hp2 NA18953.hp1 NA18955.hp1 NA18964.hp1 NA18973.hp2 NA18986.hp2 NA18995.hp2 NA19007.hp2 NA19012.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0019 a0005c0011	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(15): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 a0001c0005t0005 a0002c0003t0001 a0002c0003t0003 a0002c0003t0005 a0002c0003t0020 a0002c0019t0001 a0005c0011t0006	a0001c0001t0002g0320 a0001c0001t0004g0323 a0001c0001t0005g0336 others(30): Show a0001c0001t0002g0320 a0001c0001t0004g0323 a0001c0001t0005g0336 a0001c0001t0005g0337 a0001c0001t0007g0334 a0001c0001t0007g0335 a0001c0001t0013g0322 a0001c0002t0001g0331 a0001c0002t0001g0342 a0001c0002t0004g0016 a0001c0002t0005g0326 a0001c0005t0001g0317 a0001c0005t0001g0332 a0001c0005t0003g0321 a0001c0005t0003g0324 a0001c0005t0004g0343 a0001c0005t0004g0344 a0001c0005t0005g0333 a0002c0003t0001g0313 a0002c0003t0001g0314 a0002c0003t0001g0315 a0002c0003t0001g0319 a0002c0003t0001g0328 a0002c0003t0001g0329 a0002c0003t0001g0330 a0002c0003t0001g0340 a0002c0003t0001g0341 a0002c0003t0003g0327 a0002c0003t0003g0338 a0002c0003t0005g0339 a0002c0003t0020g0316 a0002c0019t0001g0325 a0005c0011t0006g0318	34	144	0.2361	19	c.49+ others(34): Show c.49+1101_49+1102insTTTTTTTTTTTTTTTTTTT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF2RA_chrX_1263814_1314935	1314264	A A	ACAGCATC others(12): Show ACAGCATCTGCCCAACCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG00639.hp1 others(56): Show HG00408.hp2 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG01070.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp2 HG01346.hp2 HG01496.hp1 HG01934.hp1 HG01952.hp2 HG01993.hp1 HG02004.hp2 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02630.hp1 HG02630.hp2 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG03225.hp2 HG03239.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03704.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp1 NA18522.hp2 NA18906.hp2 NA18943.hp1 NA18954.hp1 NA18973.hp2 NA18984.hp2 NA18998.hp1 NA19005.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19064.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19087.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0012 others(7): Show a0001c0001 a0001c0002 a0001c0012 a0001c0013 a0001c0016 a0002c0003 a0002c0004 a0002c0006 a0003c0009 a0003c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0001t0014 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0012t0005 a0001c0013t0003 a0001c0016t0003 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0004t0003 a0002c0004t0005 a0002c0006t0002 a0002c0006t0003 a0003c0009t0002 a0003c0018t0005	a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0048 others(56): Show a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0085 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0116 a0001c0001t0002g0023 a0001c0001t0002g0037 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0079 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0061 a0001c0001t0004g0035 a0001c0001t0004g0039 a0001c0001t0004g0042 a0001c0001t0004g0089 a0001c0001t0013g0057 a0001c0001t0014g0027 a0001c0002t0001g0077 a0001c0002t0001g0104 a0001c0002t0003g0045 a0001c0002t0003g0056 a0001c0002t0003g0080 a0001c0002t0003g0123 a0001c0002t0004g0043 a0001c0002t0004g0054 a0001c0002t0004g0133 a0001c0002t0005g0124 a0001c0002t0005g0135 a0001c0002t0006g0055 a0001c0002t0009g0012 a0001c0012t0005g0151 a0001c0013t0003g0081 a0001c0016t0003g0108 a0002c0003t0001g0145 a0002c0003t0002g0029 a0002c0003t0002g0141 a0002c0003t0002g0150 a0002c0003t0004g0132 a0002c0004t0003g0110 a0002c0004t0005g0126 a0002c0004t0005g0131 a0002c0006t0002g0127 a0002c0006t0003g0157 a0003c0009t0002g0105 a0003c0009t0002g0143 a0003c0018t0005g0129	59	157	0.3758	19	c.47 others(30): Show c.4785_*4786insCAGCATCTGCCCAACCACT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4330		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314268	C C	CATCTGCC others(12): Show CATCTGCCCAACCACTCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG03239.hp1 HG00597.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0118 a0001c0001t0004g0155 a0001c0001t0002g0118 a0001c0001t0004g0155	2	96	0.0208	19	c.47 others(30): Show c.4789_*4790insATCTGCCCAACCACTCTGT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4334		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314516	A A	ATCTGCCC others(12): Show ATCTGCCCAACCACTCTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0005 a0002c0003t0005g0005	1	152	0.0066	19	c.50 others(30): Show c.5037_*5038insTCTGCCCAACCACTCTGTG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4582		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314566	C C	CCACTGCG others(12): Show CCACTGCGCCTGCCCAACCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0115 a0001c0001t0004g0115	1	142	0.0070	19	c.50 others(30): Show c.5087_*5088insCACTGCGCCTGCCCAACCG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4632		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314566	C C	CCACTGTG others(12): Show CCACTGTGCCTGCCCAACCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG03225.hp2 NA19030.hp1 HG01884.hp1 HG03225.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0009 a0001c0001 a0001c0002 a0003c0009	a0001c0001t0002 a0001c0002t0005 a0003c0009t0002 a0001c0001t0002 a0001c0002t0005 a0003c0009t0002	a0001c0001t0002g0033 a0001c0002t0005g0135 a0003c0009t0002g0105 a0001c0001t0002g0033 a0001c0002t0005g0135 a0003c0009t0002g0105	3	144	0.0208	19	c.50 others(30): Show c.5087_*5088insCACTGTGCCTGCCCAACCG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4632		chrX	TogoVar

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