Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CLCN7_chr16_1439935_1480028	1457328	T T	TCGGCCCT others(193): Show TCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGAC GCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGAT GCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGAC GCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGAC G	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG01074.hp2 HG03239.hp1 HG01074.hp2 HG03239.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0001 a0005c0014t0001	a0005c0014t0001g0116 a0005c0014t0001g0117 a0005c0014t0001g0116 a0005c0014t0001g0117	2	404	0.0050	200	c.747 others(207): Show c.747_748insCGTCACGCGTGTCTCTGAGCACCGGTCCTTCTGGTCTC CAGGAAGGGCCGCGTCACGCGTGTCTCTGAGCATCGGTCCTTCTGGTCTC CAGGAAGGGCCGCATCACGCGTGTCTCTGAGCATCGGTCCTTCTGGTCTC CAGGAAGGGCCGCGTCACGCGTGTCTCTGAGCACCGGTCCTTCTGGTCTC CAGGAAGGGCCG	p.Met others(5): Show p.Met250fs	CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding	9/25	801/4168	747/2418	249/805			chr16	TogoVar
CMIP_chr16_81439808_81716762	81704339	C C	CCTCACCC others(193): Show CCTCACCCTCCTCCCTGCCCCCCTTACTCTCCTCCCTGCCCCTTCACCCT CCTCCCTGCTCCCCTCACCCTCTTCCCTGCCCCCTCCCCCTCCTCCCTGC CCCCTCCCCCTCCCCTACCCACTTACCCTCCTCCCTGCCCCCTCACCCTC CTCCCTGCCCCCTCACCCTCCTCTCTTTCCCCTCACCCTCCTCCCTGCCC A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0219 a0001c0001t0002g0219	1	268	0.0037	200	c.209 others(217): Show c.2091+276_2091+475dupCTTACTCTCCTCCCTGCCCCTTCACCCT CCTCCCTGCTCCCCTCACCCTCTTCCCTGCCCCCTCCCCCTCCTCCCTGC CCCCTCCCCCTCCCCTACCCACTTACCCTCCTCCCTGCCCCCTCACCCTC CTCCCTGCCCCCTCACCCTCCTCTCTTTCCCCTCACCCTCCTCCCTGCCC ACTCACCCTCCTCCCTGCCCCC		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTLN_chr9_17130040_17508923	17274304	T T	TGGGGCCG others(193): Show TGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGT GGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp1 HG02895.hp1 others(2): Show HG01109.hp1 HG02109.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1	a0011 a0013 a0011 a0013	a0011c0015 a0013c0019 a0011c0015 a0013c0019	a0011c0015t0002 a0013c0019t0002 a0011c0015t0002 a0013c0019t0002	a0011c0015t0002g0213 a0011c0015t0002g0214 a0011c0015t0002g0215 others(2): Show a0011c0015t0002g0213 a0011c0015t0002g0214 a0011c0015t0002g0215 a0013c0019t0002g0119 a0013c0019t0002g0120	5	218	0.0229	200	c.983 others(215): Show c.983+440_983+441insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGG		CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	6/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL18A1_chr21_45400165_45518720	45474706	A A	ATGGACCC others(193): Show ATGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC ATGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC GTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC GTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02258.hp1 HG02723.hp2 HG01070.hp1 HG02258.hp1 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0027 a0001c0002 a0001c0027	a0001c0002t0002 a0001c0027t0001 a0001c0002t0002 a0001c0027t0001	a0001c0002t0002g0178 a0001c0027t0001g0019 a0001c0027t0001g0020 a0001c0002t0002g0178 a0001c0027t0001g0019 a0001c0027t0001g0020	3	292	0.0103	200	c.739 others(215): Show c.739-721_739-720insATGGACCCACAGCCTCGCTCCTGGGGGCGT GGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGGGGGCGT GGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGGGGGCGT GGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGGGGGCGT GGGCAGGAGACGCCGTGGAC		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	4/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45474706	A A	ATGGACCC others(193): Show ATGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC GTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC GTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC GTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(129): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01123.hp1 HG01167.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02040.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02273.hp1 HG02280.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp2 HG02886.hp2 HG02895.hp2 HG02970.hp1 HG03098.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18959.hp1 NA18961.hp1 NA18964.hp1 NA18977.hp2 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19005.hp1 NA19007.hp1 NA19012.hp1 NA19012.hp2 NA19057.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1	a0001 a0002 a0004 others(16): Show a0001 a0002 a0004 a0005 a0006 a0007 a0009 a0012 a0015 a0017 a0021 a0022 a0023 a0024 a0025 a0029 a0033 a0034 a0035	a0001c0001 a0001c0002 a0001c0003 others(44): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0013 a0001c0017 a0001c0019 a0001c0024 a0001c0030 a0001c0032 a0001c0033 a0001c0054 a0001c0055 a0001c0061 a0001c0062 a0001c0064 a0001c0073 a0001c0074 a0001c0079 a0001c0080 a0001c0081 a0002c0012 a0002c0067 a0002c0083 a0002c0084 a0002c0103 a0004c0057 a0005c0058 a0006c0028 a0006c0072 a0007c0031 a0007c0034 a0007c0076 a0009c0016 a0012c0065 a0015c0029 a0017c0043 a0021c0086 a0022c0068 a0023c0085 a0024c0066 a0025c0050 a0029c0071 a0033c0077 a0034c0075 a0035c0078	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(54): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0017 a0001c0003t0001 a0001c0006t0003 a0001c0008t0002 a0001c0013t0002 a0001c0013t0014 a0001c0017t0002 a0001c0017t0003 a0001c0019t0003 a0001c0024t0001 a0001c0030t0002 a0001c0032t0001 a0001c0033t0002 a0001c0054t0002 a0001c0055t0003 a0001c0061t0001 a0001c0062t0002 a0001c0064t0001 a0001c0073t0003 a0001c0074t0004 a0001c0079t0001 a0001c0080t0004 a0001c0081t0003 a0002c0012t0004 a0002c0067t0001 a0002c0083t0001 a0002c0084t0002 a0002c0103t0001 a0004c0057t0002 a0005c0058t0001 a0006c0028t0003 a0006c0072t0002 a0007c0031t0002 a0007c0034t0001 a0007c0076t0002 a0009c0016t0001 a0009c0016t0002 a0012c0065t0002 a0015c0029t0003 a0017c0043t0002 a0021c0086t0002 a0022c0068t0010 a0023c0085t0002 a0024c0066t0010 a0025c0050t0002 a0029c0071t0002 a0033c0077t0003 a0034c0075t0001 a0035c0078t0001	a0001c0001t0001g0033 a0001c0001t0001g0093 a0001c0001t0001g0099 others(129): Show a0001c0001t0001g0033 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0113 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0175 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0203 a0001c0001t0001g0228 a0001c0001t0001g0234 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0001g0266 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0002g0278 a0001c0001t0004g0129 a0001c0001t0004g0223 a0001c0001t0013g0276 a0001c0002t0001g0024 a0001c0002t0001g0080 a0001c0002t0001g0095 a0001c0002t0002g0047 a0001c0002t0002g0060 a0001c0002t0002g0074 a0001c0002t0002g0088 a0001c0002t0002g0091 a0001c0002t0002g0094 a0001c0002t0002g0102 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0107 a0001c0002t0002g0114 a0001c0002t0002g0133 a0001c0002t0002g0140 a0001c0002t0002g0188 a0001c0002t0002g0231 a0001c0002t0002g0235 a0001c0002t0002g0238 a0001c0002t0002g0269 a0001c0002t0002g0283 a0001c0002t0003g0143 a0001c0002t0006g0233 a0001c0002t0017g0216 a0001c0003t0001g0249 a0001c0006t0003g0079 a0001c0006t0003g0177 a0001c0006t0003g0180 a0001c0006t0003g0204 a0001c0006t0003g0215 a0001c0006t0003g0259 a0001c0006t0003g0291 a0001c0008t0002g0240 a0001c0008t0002g0260 a0001c0008t0002g0268 a0001c0008t0002g0270 a0001c0008t0002g0272 a0001c0013t0002g0122 a0001c0013t0002g0206 a0001c0013t0002g0207 a0001c0013t0014g0210 a0001c0017t0002g0179 a0001c0017t0003g0205 a0001c0017t0003g0284 a0001c0019t0003g0065 a0001c0019t0003g0139 a0001c0019t0003g0170 a0001c0024t0001g0229 a0001c0024t0001g0256 a0001c0030t0002g0285 a0001c0030t0002g0286 a0001c0032t0001g0147 a0001c0032t0001g0162 a0001c0033t0002g0100 a0001c0033t0002g0169 a0001c0054t0002g0201 a0001c0055t0003g0152 a0001c0061t0001g0257 a0001c0062t0002g0097 a0001c0064t0001g0061 a0001c0073t0003g0034 a0001c0074t0004g0200 a0001c0079t0001g0042 a0001c0080t0004g0057 a0001c0081t0003g0154 a0002c0012t0004g0040 a0002c0012t0004g0049 a0002c0012t0004g0058 a0002c0012t0004g0199 a0002c0067t0001g0041 a0002c0083t0001g0237 a0002c0084t0002g0212 a0002c0103t0001g0136 a0004c0057t0002g0035 a0005c0058t0001g0165 a0006c0028t0003g0059 a0006c0028t0003g0230 a0006c0072t0002g0082 a0007c0031t0002g0123 a0007c0031t0002g0160 a0007c0034t0001g0141 a0007c0034t0001g0282 a0007c0076t0002g0281 a0009c0016t0001g0084 a0009c0016t0001g0209 a0009c0016t0002g0252 a0012c0065t0002g0096 a0015c0029t0003g0226 a0015c0029t0003g0227 a0017c0043t0002g0015 a0021c0086t0002g0176 a0022c0068t0010g0004 a0023c0085t0002g0106 a0024c0066t0010g0066 a0025c0050t0002g0108 a0029c0071t0002g0134 a0033c0077t0003g0098 a0034c0075t0001g0116 a0035c0078t0001g0115	132	292	0.4521	200	c.739 others(215): Show c.739-680_739-679insGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGGGGCGTGGGCAGGAGAC		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	4/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45474706	A A	ATGGACCC others(193): Show ATGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAT GTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC GTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC GTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03927.hp1 NA18977.hp1 HG00423.hp1 HG03927.hp1 NA18977.hp1	a0001 a0005 a0001 a0005	a0001c0004 a0001c0005 a0005c0036 a0001c0004 a0001c0005 a0005c0036	a0001c0004t0001 a0001c0005t0002 a0005c0036t0001 a0001c0004t0001 a0001c0005t0002 a0005c0036t0001	a0001c0004t0001g0271 a0001c0005t0002g0280 a0005c0036t0001g0292 a0001c0004t0001g0271 a0001c0005t0002g0280 a0005c0036t0001g0292	3	292	0.0103	200	c.739 others(215): Show c.739-722_739-721insTGTGGACCCACAGCCTCGCTCCTGGGGGCG TGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGGGGGCG TGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGGGGGCG TGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGGGGGCG TGGGCAGGAGACGCCGTGGA		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	4/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45474730	G G	GGGCGTGG others(193): Show GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0023	1	292	0.0034	200	c.739 others(215): Show c.739-680_739-679insGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGCGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGGGGCGTGGGCAGGAGAC		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	4/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45474780	G G	GGGCGTGG others(193): Show GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02273.hp2 HG02451.hp2 others(9): Show HG02109.hp2 HG02273.hp2 HG02451.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG03130.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03579.hp1 NA18906.hp2	a0001 a0008 a0001 a0008	a0001c0005 a0001c0022 a0001c0038 others(4): Show a0001c0005 a0001c0022 a0001c0038 a0001c0069 a0001c0098 a0008c0018 a0008c0101	a0001c0005t0002 a0001c0022t0001 a0001c0038t0004 others(4): Show a0001c0005t0002 a0001c0022t0001 a0001c0038t0004 a0001c0069t0005 a0001c0098t0001 a0008c0018t0005 a0008c0101t0005	a0001c0005t0002g0239 a0001c0022t0001g0008 a0001c0022t0001g0021 others(9): Show a0001c0005t0002g0239 a0001c0022t0001g0008 a0001c0022t0001g0021 a0001c0022t0001g0131 a0001c0038t0004g0028 a0001c0038t0004g0029 a0001c0069t0005g0038 a0001c0098t0001g0007 a0008c0018t0005g0067 a0008c0018t0005g0130 a0008c0018t0005g0132 a0008c0101t0005g0027	12	292	0.0411	200	c.739 others(215): Show c.739-680_739-679insGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGCGGCGTGGGCAGGAGAC		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	4/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL4A2_chr13_110302284_110518209	110355580	G G	GTGTGGGG others(193): Show GTGTGGGGGAGGGCTGCACTAGCTCACTTGTGTGTGTGGGGGAGGGCTGC AGTAGCTCACCTGTGTGTGGGGGTGGAGGGCTGTACAGCTCACCTGTGTG AGTGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCAC TAGCTCACCTGTGTGTGTGGGGTAGGGCTGCACTAGCTCACCTGTGTGTG T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02273.hp1 HG01934.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0006 a0001c0001t0005 a0001c0002t0006	a0001c0001t0005g0107 a0001c0002t0006g0046 a0001c0001t0005g0107 a0001c0002t0006g0046	2	372	0.0054	200	c.100 others(217): Show c.100-1892_100-1891insTGTGGGGGAGGGCTGCACTAGCTCACTT GTGTGTGTGGGGGAGGGCTGCAGTAGCTCACCTGTGTGTGGGGGTGGAGG GCTGTACAGCTCACCTGTGTGAGTGGGGAGGGCTGCACTAGCTCACCTGT GTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGTAGGGCT GCACTAGCTCACCTGTGTGTGT		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47						chr13	TogoVar
COL4A3_chr2_227159624_227319792	227203112	T T	TATATACA others(193): Show TATATACATATATGTGTATATATACATATATGTGTATATATGTGTATATA TACATATATATACATATATGTGTATATATACGTATATATACATATATGTG TATATATACGTATATATACATATATGTGTATATATACATATATGTGTATA TATGTGTATATATACATATATGTGTATATATACATATATGTGTATATATA C	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19084.hp2 NA19077.hp2 NA19084.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0004 a0004c0003t0004	a0004c0003t0004g0213 a0004c0003t0004g0271 a0004c0003t0004g0213 a0004c0003t0004g0271	2	344	0.0058	200	c.88- others(217): Show c.88-34851_88-34850insCATATATGTGTATATATACATATATGTG TATATATGTGTATATATACATATATATACATATATGTGTATATATACGTA TATATACATATATGTGTATATATACGTATATATACATATATGTGTATATA TACATATATGTGTATATATGTGTATATATACATATATGTGTATATATACA TATATGTGTATATATACATATA		COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51					INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203114	T T	TATATACA others(193): Show TATATACATATATGTGTATATATACATATATGTGTATATATGTGTATATA TACATATATATACATATATGTGTATATATACGTATATATACATATATGTG TATATATACGTATATATACATATATGTGTATATATACATATATGTGTATA TATGTGTATATATACATATATGTGTATATATACATATATGTGTATATATA C	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0281 a0003c0002t0004g0281	1	344	0.0029	200	c.88- others(217): Show c.88-34850_88-34849insACATATATGTGTATATATACATATATGT GTATATATGTGTATATATACATATATATACATATATGTGTATATATACGT ATATATACATATATGTGTATATATACGTATATATACATATATGTGTATAT ATACATATATGTGTATATATGTGTATATATACATATATGTGTATATATAC ATATATGTGTATATATACATAT		COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51					INFO_REALIGN_3_PRIME	chr2	TogoVar
COL9A3_chr20_62812050_62846159	62830651	C C	CACCCCCC others(193): Show CACCCCCCACCACAGTCCCCCACCCCCCACCCCAGTCCCCAAACCCCTAC CACAGTCCCCCAACCCCACCACAGTCCCCCACCCCCTACCACAGTCCCCC AACCCCTACCACAGTCCCCCAACCCCCACCACAGTCCCCCCACCCCCACC ACAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCC A	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0017 a0017	a0017c0043 a0017c0043	a0017c0043t0003 a0017c0043t0003	a0017c0043t0003g0357 a0017c0043t0003g0357	1	412	0.0024	200	c.128 others(215): Show c.1287+69_1287+70insCACCACAGTCCCCCACCCCCCACCCCAGTC CCCAAACCCCTACCACAGTCCCCCAACCCCACCACAGTCCCCCACCCCCT ACCACAGTCCCCCAACCCCTACCACAGTCCCCCAACCCCCACCACAGTCC CCCCACCCCCACCACAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCC ACCACAGTCCCCCAACCCCC		COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	24/31					INFO_REALIGN_3_PRIME	chr20	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(193): Show CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCC TCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCC TCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCC T	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0163 a0001c0002t0001g0163	1	350	0.0029	200	c.510 others(219): Show c.510+24113_510+24114insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCT CCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTC TCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTC TCTCTCCCTCTCCTCTCTCTCCCT		COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6						chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(193): Show CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCG TCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCC TCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCC T	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0127 a0001c0002t0001g0127	1	350	0.0029	200	c.510 others(219): Show c.510+24113_510+24114insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCCTCTCCTCTCTCT CCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTC TCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTC TCTCTCCCTCTCCTCTCTCTCCCT		COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6						chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(193): Show CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCG TCTCCTCTCTCTCCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCC TCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCC T	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0133 a0001c0002t0001g0133	1	350	0.0029	200	c.510 others(219): Show c.510+24113_510+24114insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTC TCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTC TCTCTCCCTCTCCTCTCTCTCCCT		COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6						chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(193): Show CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCG TCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCCTCTCC TCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCC T	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18999.hp2 HG03942.hp2 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0130 a0001c0002t0001g0155 a0001c0002t0001g0130 a0001c0002t0001g0155	2	350	0.0057	200	c.510 others(219): Show c.510+24113_510+24114insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTC TCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTC TCTCTCCCTCTCCTCTCTCTCCCT		COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6						chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(193): Show CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCG TCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCC TCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCC T	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0160 a0001c0002t0001g0160	1	350	0.0029	200	c.510 others(219): Show c.510+24113_510+24114insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTC TCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTC TCTCTCCCTCTCCTCTCTCTCCCT		COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6						chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(193): Show CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCG TCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCC TCTCTCTCCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCC T	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0103 a0001c0002t0001g0103	1	350	0.0029	200	c.510 others(219): Show c.510+24113_510+24114insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCCTC TCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTC TCTCTCCCTCTCCTCTCTCTCCCT		COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6						chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(193): Show CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCG TCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCC TCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCCTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCC T	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18977.hp2 HG02135.hp1 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0167 a0001c0002t0001g0123 a0001c0002t0001g0167	2	350	0.0057	200	c.510 others(219): Show c.510+24113_510+24114insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTC TCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTC TCTCTCCCTCTCCTCTCTCTCCCT		COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6						chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(193): Show CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCG TCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCC TCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCT CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCC T	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	350	0.0029	200	c.510 others(219): Show c.510+24113_510+24114insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTC TCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCCTCTCCTCTCTCTCCCT		COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6						chr5	TogoVar
COPS7A_chr12_6719046_6736865	6722713	A A	AAAAAAAA others(193): Show AAAAAAAAAAAAAAAGATAAGCTTGGACCTGTCTCTACTAAAAATACAAA AATTAGCCGGGCGTGGTGGCGCGCGCCTGTAATTCCAGCTACTCAGGAGG CTGAGGCGGGAGAATCATTTGAGCCCAAGAGGCAGAGGTTCAGTGGGTCG AGACCACGCCATTGCACTCCAGCCTGGGTGGCAAGAGCGAAACTCTGGCT C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	474	0.0021	200	c.-15 others(211): Show c.-1510_-1509insAAAAAAAAAAAAAAGATAAGCTTGGACCTGTCTC TACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCGCGCCTGTAATTC CAGCTACTCAGGAGGCTGAGGCGGGAGAATCATTTGAGCCCAAGAGGCAG AGGTTCAGTGGGTCGAGACCACGCCATTGCACTCCAGCCTGGGTGGCAAG AGCGAAACTCTGGCTC		COPS7A	ENSG00000111652.10	transcript	ENST00000543155.6	protein_coding					1332		chr12	TogoVar
CPNE7_chr16_89570758_89602246	89587951	C C	CGTGTCAC others(193): Show CGTGTCACCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACA GATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCC CCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCAC AGATACACGGCCCCCGTGTTACCCACAGATACACGGCCCCCGTGTCACCC G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0316 a0001c0002t0002g0316	1	348	0.0029	200	c.928 others(215): Show c.928-724_928-723insGTGTCACCCCCGTGTCACCCACAGATACAC GGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTC ACCCACAGATACACGGCCCCCGTGTTACCCACAGATACACGGCCCCCGTG TCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTTACCCACAGATA CACGGCCCCCGTGTCACCCG		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14						chr16	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(193): Show ATATATATATATATATATATATATATTTCTATATATATATATATATATAT ATTTCTATATATATATATATATATATATTTCTATATATATATATTTCTAT ATATATATATATTTCTATATATATATATTTCTATATATATATATTTCTAT ATATATATATTTCTATATATATATATATATTTCTATATATATATATATTT C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	370	0.0027	200	c.56 others(211): Show c.5645_*5646insTATATATATATATATATATATATATTTCTATATA TATATATATATATATATTTCTATATATATATATATATATATATTTCTATA TATATATATTTCTATATATATATATATTTCTATATATATATATTTCTATA TATATATATTTCTATATATATATATTTCTATATATATATATATATTTCTA TATATATATATATTTC		CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding					1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(193): Show ATATATATATATATATATATATTTCTATATATATATATATATATATATTT CTATATATATATATATATATATATTTCTATATATATATATATATTTCTAT ATATATATATATTTCTATATATATATATTTCTATATATATATATTTCTAT ATATATATATTTCTATATATATATATATATTTCTATATATATATATATTT C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 NA20300.hp2 HG01358.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0305 a0001c0001t0001g0297 a0001c0001t0001g0305	2	370	0.0054	200	c.56 others(211): Show c.5645_*5646insTATATATATATATATATATATTTCTATATATATA TATATATATATATTTCTATATATATATATATATATATATTTCTATATATA TATATATATTTCTATATATATATATATTTCTATATATATATATTTCTATA TATATATATTTCTATATATATATATTTCTATATATATATATATATTTCTA TATATATATATATTTC		CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding					1744		chr22	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(193): Show TGAGGAAGAGGGATGTGAGGGGGATATGAGGGGGAGGGGAGGGGGAGGGG AGGGGAGGGGGAGGGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGG GGGGAGGGGAGAGGAGGGGGAGAGGAGGGGGAGGCGGAGGGGGAGGCGGA GGGGGAGGCGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGG G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0053 a0001c0050t0053	a0001c0050t0053g0120 a0001c0050t0053g0120	1	126	0.0079	200	c.416 others(221): Show c.416-142659_416-142658insCCCCCTCCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCGCCTCCCCCTCCGCCTCCCCCTCCGCCTCCCC CTCCTCTCCCCCTCCTCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC ATATCCCCCTCACATCCCTCTTCCTC		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69						chr8	TogoVar
CTSS_chr1_150725188_150770778	150744134	A A	ATATATTA others(193): Show ATATATTATATATTATATGTATATTATGTATACATAATATATTATATATT ATATGTATATTATGTATACATAATATTTATATATTATATGTATATTATGT ATACATAATATATTATATATTATATGTATATTATGTATACATAATATTTA TATATTATATGTATATTATGTATACATAATATTTATATATTATATGTATA T	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0252 a0001c0001t0003g0252	1	344	0.0029	200	c.896 others(217): Show c.896+3642_896+3643insATATACATATAATATATAAATATTATGT ATACATAATATACATATAATATATAAATATTATGTATACATAATATACAT ATAATATATAATATATTATGTATACATAATATACATATAATATATAAATA TTATGTATACATAATATACATATAATATATAATATATTATGTATACATAA TATACATATAATATATAATATA		CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7						chr1	TogoVar
CUL4A_chr13_113204613_113272108	113232186	G G	GTCACCAC others(193): Show GTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATT A	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	396	0.0025	200	c.513 others(215): Show c.513-991_513-990insTCACCACTACCTGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGC CCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCA CTACCTGCCCACCACCATTA		CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19						chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232218	G G	GTCACCAC others(193): Show GTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATT A	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	396	0.0025	200	c.513 others(215): Show c.513-959_513-958insTCACCACTACCTGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCA CTACCTGCCCACCACCATTA		CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19						chr13	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(193): Show ATATATATATATGTGTATATATATATATATATATATATATGTGTATATAT ATATATATATGTGTATATATATATATATATATATATATGTGTATATATAT ATATATATATATGTGTATATATATATATATATATATATATGTGTATATAT ATATATATATATATATATGTGTATATATATATATATATATATATATATAT G	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0042 a0002c0002t0042	a0002c0002t0042g0200 a0002c0002t0042g0200	1	334	0.0030	200	c.290 others(215): Show c.290-150_290-149insTATATATATGTGTATATATATATATATATA TATATATGTGTATATATATATATATATGTGTATATATATATATATATATA TATATGTGTATATATATATATATATATATGTGTATATATATATATATATA TATATATGTGTATATATATATATATATATATATATGTGTATATATATATA TATATATATATATATATGTA		CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(193): Show ATATATATGTGTATATATATATATATATATATATATGTGTATATATATAT ATATATATATGTGTATATATATATATATATATATATATATGTGTATATAT ATATATATATATATGTGTATATATATATATATATATATATGTGTATATAT ATATATATATATATATATATGTGTATATATATATATATATATATATATAT G	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0113 a0002c0002t0113	a0002c0002t0113g0224 a0002c0002t0113g0224	1	334	0.0030	200	c.290 others(215): Show c.290-150_290-149insTATATGTGTATATATATATATATATATATA TATGTGTATATATATATATATATATATGTGTATATATATATATATATATA TATATATGTGTATATATATATATATATATATGTGTATATATATATATATA TATATATGTGTATATATATATATATATATATATATATGTGTATATATATA TATATATATATATATATGTA		CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(193): Show ATATATATGTGTATATATATATATATATATGTGTATATATATATATATAT ATATATATGTGTATATATATATATATATATATGTGTATATATATATATAT ATATATGTGTATATATATATATATATATATATATATATGTGTATATATAT ATATATATATATATATATATGTGTATATATATATATATATATATATATAT G	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0040 a0002c0002t0040	a0002c0002t0040g0287 a0002c0002t0040g0287	1	334	0.0030	200	c.290 others(215): Show c.290-150_290-149insTATATGTGTATATATATATATATATATGTG TATATATATATATATATATATATATGTGTATATATATATATATATATATG TGTATATATATATATATATATATGTGTATATATATATATATATATATATA TATATGTGTATATATATATATATATATATATATATATGTGTATATATATA TATATATATATATATATGTA		CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP3A5_chr7_99643194_99684996	99675638	T T	TCTCCTCC others(193): Show TCTCCTCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCCCTTCC CCTCCCCTCCTCTCCTCTCCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCC TCCCCTCTCCTCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCC CCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCC C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	292	0.0034	200	c.165 others(215): Show c.165+476_165+477insGGGAGGGGAGGGGGGAGGAGGGGAGGGGAG GGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAG GGGAGGGGAGAGGAGAGGGGAGGGGAGGGGAGAGGAGAGGGGAGGGGAGG GGGAGAGGAGAGGAGGGGAGGGGAAGGGGGAGGGGAGAGGGGAGGGGGAG GGGAGAGGAGTGGGGAGGAG		CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12						chr7	TogoVar
CYP4F11_chr19_15907377_15939529	15931525	C C	CAGAGGAA others(193): Show CAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGTGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0049 a0001c0004t0022g0049	1	386	0.0026	200	c.199 others(217): Show c.199-1925_199-1924insCCCCGCTCACTCATTCCTCTCCCCGCTC ACTCATTCCTCTCCCCACTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTCCCCGCTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCCCCGCTC ACTCATTCCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTCTT CTCCTCACTCACTCATTCCTCT		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931621	C C	TGAGGAGA others(193): Show TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGAAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGTGGGGAGAGGAATGAGTGAG C	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0021 a0001c0004t0002g0021	1	386	0.0026	200	c.199 others(217): Show c.199-2020_199-2019insCTCACTCATTCCTCTCCCCACTCACTCA TTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCC CGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTTCTCACTCACTCA TTCCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCCT CACTCACTCATTCCTCTCCTCA		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931625	G G	GAGAGGAA others(193): Show GAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG CAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGTGGGCAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0050 a0001c0004t0022g0050	1	386	0.0026	200	c.199 others(217): Show c.199-2025_199-2024insGCCCGCTCACTCATTCCTCTCCCCGCTC ACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCACTCACTCATTCCT CTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTC ACTCATTCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTGCCCGCTCACTCATTCCTCT		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931741	T T	TGGGCAGA others(193): Show TGGGCAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG TGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG C	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0018 a0002c0001t0018	a0002c0001t0018g0167 a0002c0001t0018g0167	1	386	0.0026	200	c.199 others(217): Show c.199-2141_199-2140insGCTCACTCATTCCTCTCCTCACTCACTC ATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCC CCGCTCACTCATTCCTCTGCCCACTCACTCATTCCTCTCCTCGCTCACTC ATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGC CCACTCACTCATTCCTCTGCCC		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931745	G G	GAGAGGAA others(193): Show GAGAGGAATGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTG AGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGAG GAGAGGAGTGAGTGAGCGAGCAGAGGAGTGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGG C	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0058 a0002c0001t0058	a0002c0001t0058g0341 a0002c0001t0058g0341	1	386	0.0026	200	c.199 others(217): Show c.199-2145_199-2144insGCCCGCTCACTCATTCCTCTGCCCGCTC ACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCACTCCT CTGCTCGCTCACTCACTCCTCTCCTCGCTCACTCACTCCTCTCCCCGCTC ACTCACTCCTCTCCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCT CTGCCCGCTCACTCATTCCTCT		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931825	G G	GAGAGGAA others(193): Show GAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAG GAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGTGGG C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0150 a0003c0003t0150	a0003c0003t0150g0098 a0003c0003t0150g0098	1	386	0.0026	200	c.199 others(217): Show c.199-2225_199-2224insGCCCACTCACTCATTCCTCTCCTCGCTC ACTCATTCCTCTCCTCGCTCACTCATTCCTCTCCTCGCTCACTCATTCCT CTCCTCGCTCACTCATTCCTCTCCTCGCTCACTCATTCCTCTCCTCACTC ACTCATTCCTCTCCTCACTCACTCATTCCTCTCCTCGCTCACTCATTCCT CTCCTCGCTCACTCATTCCTCT		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931841	T T	TGAGGAGA others(193): Show TGAGGAGAGGAATGAGTGAGTGAGCAGAGGAATGAGTGAGTGAGCAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG CGAGGAGAGGAATGAGTGAGTGAGCAGAGGAATGAGTGAGTGAGCAGAGG AATGAGTGAGTGAGCAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0065 a0002c0001t0065	a0002c0001t0065g0015 a0002c0001t0065g0015	1	386	0.0026	200	c.199 others(217): Show c.199-2241_199-2240insGCTCACTCATTCCTCTCCTCGCTCACTC ATTCCTCTGCTCACTCACTCATTCCTCTGCTCACTCACTCATTCCTCTGC TCACTCACTCATTCCTCTCCTCGCTCACTCATTCCTCTCCTCGCTCACTC ATTCCTCTCCTCACTCACTCATTCCTCTGCTCACTCACTCATTCCTCTGC TCACTCACTCATTCCTCTCCTC		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931865	G G	GAGAAGAA others(193): Show GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGCAGAGGAATGAGTGAGTGAGCAGAGGAATGAGTGAGTGAG AAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAG A	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0252 a0001c0002t0001g0252	1	386	0.0026	200	c.199 others(217): Show c.199-2265_199-2264insTCTCGCTCACTCATTCCTCTCCCCGCTC ACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCTCGCTCACTCATTCCT CTCCCCGCTCACTCATTCCTCTTCTCACTCACTCATTCCTCTGCTCACTC ACTCATTCCTCTGCTCACTCACTCATTCTTCTCCTCACTCACTCATTCCT CTCCTCACTCACTCATTCTTCT		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931881	T T	TGAGAAGA others(193): Show TGAGAAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAG TGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGTGGGCAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG C	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0034 a0001c0004t0034	a0001c0004t0034g0038 a0001c0004t0034g0038	1	386	0.0026	200	c.199 others(217): Show c.199-2281_199-2280insGCTCACTCATTCCTCTCCTCGCTCACTC ATTCCTCTGCCCACTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCC CCGCTCACTCATTCCTCTCCCCACTCACTCATTCCTCTCCCCGCTCACTC ATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCC CCGCTCACTCATTCCTCTTCTC		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932041	T T	TGAGGAGA others(193): Show TGAGGAGAGGAATGAGTGAGTGAGCAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGCGAGGAGAAGAATGAGTGAGTGAGGAGAGG AATGAGTGAGCGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0032 a0002c0001t0032	a0002c0001t0032g0011 a0002c0001t0032g0011	1	386	0.0026	200	c.198 others(217): Show c.198+2169_198+2170insGCTCACTCATTCCTCTCCTCACTCACTC ATTCCTCTCCTCGCTCACTCATTCCTCTCCTCACTCACTCATTCTTCTCC TCGCTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCCTCGCTCACTC ATTCCTCTCCTCACTCACTCATTCCTCTCCTCGCTCACTCATTCCTCTGC TCACTCACTCATTCCTCTCCTC		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932101	T T	TGAGAAGA others(193): Show TGAGAAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAG CGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG C	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0034 a0001c0004t0034	a0001c0004t0034g0038 a0001c0004t0034g0038	1	386	0.0026	200	c.198 others(217): Show c.198+2109_198+2110insGCTCACTCATTCCTCTCCTCGCTCACTC ATTCCTCTCCCCGCTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCC TCGCTCACTCATTCCTCTCCTCGCTCACTCATTCCTCTGCCCGCTCACTC ATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCC CCGCTCACTCATTCCTCTTCTC		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932105	G G	GAGAGGAA others(193): Show GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAG GAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGTGGGCAGAGGAATG AGTGAGTGGGCAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAGTGGG C	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0185 a0002c0001t0185	a0002c0001t0185g0368 a0002c0001t0185g0368	1	386	0.0026	200	c.198 others(217): Show c.198+2105_198+2106insGCCCACTCACTCATTCCTCTGCCCACTC ACTCATTCCTCTGCCCACTCACTCATTCCTCTGCCCACTCACTCATTCCT CTCCTCGCTCACTCATTCCTCTCCTCGCTCACTCATTCCTCTCCCCGCTC ACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTCCTCACTCACTCATTCCTCT		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932129	G G	GGAATGAG others(193): Show GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAGTGAGTGAGTGAGGAGA A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0038 a0003c0003t0038	a0003c0003t0038g0102 a0003c0003t0038g0102	1	386	0.0026	200	c.198 others(217): Show c.198+2081_198+2082insTTCTCCTCACTCACTCACTCCTCTCCTC ACTCACTCATTCTTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCAT TCCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCCTC ACTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCAT TCCTCTCCTCACTCACTCATTC		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932181	T T	TGAGGAGA others(193): Show TGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAG AATGAGTGAGTGAGGAGAGGAGTGAGTGAGTGAGGAGAAGAATGAGTGAG TGAGGAGAGGAGTGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0021 a0003c0003t0021	a0003c0003t0021g0075 a0003c0003t0021g0075	1	386	0.0026	200	c.198 others(217): Show c.198+2029_198+2030insGCTCACTCATTCCTCTCCTCGCTCACTC ATTCCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTCTTCTCC TCACTCACTCACTCCTCTCCTCACTCACTCATTCTTCTCCTCACTCACTC ACTCCTCTCCTCACTCACTCATTCTTCTCCTCACTCACTCATTCCTCTCC TCACTCACTCATTCTTCTCCTC		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932181	T T	TGAGGAGA others(193): Show TGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAGTGAGTGAG TGAGGAGAAGAATGAGTGAGTGAGGAGAGGAGTGAGTGAGTGAGGAGAAG AATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0153 a0003c0003t0153	a0003c0003t0153g0079 a0003c0003t0153g0079	1	386	0.0026	200	c.198 others(217): Show c.198+2029_198+2030insGCTCACTCATTCCTCTCCTCGCTCACTC ATTCCTCTCCTCACTCACTCATTCTTCTCCTCACTCACTCACTCCTCTCC TCACTCACTCATTCTTCTCCTCACTCACTCACTCCTCTCCTCACTCACTC ATTCTTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTCTTCTCC TCACTCACTCATTCCTCTCCTC		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932181	T T	TGAGGAGA others(193): Show TGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAGTGAGTGAG TGAGGAGAAGAATGAGTGAGTGAGGAGAGGAGTGAGTGAGTGAGGAGAAG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03579.hp1 HG02622.hp1 HG03579.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0021 a0003c0003t0021	a0003c0003t0021g0078 a0003c0003t0021g0081 a0003c0003t0021g0078 a0003c0003t0021g0081	2	386	0.0052	200	c.198 others(217): Show c.198+2029_198+2030insGCTCACTCATTCCTCTCCTCACTCACTC ATTCCTCTCCTCACTCACTCATTCTTCTCCTCACTCACTCACTCCTCTCC TCACTCACTCATTCTTCTCCTCACTCACTCACTCCTCTCCTCACTCACTC ATTCTTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTCTTCTCC TCACTCACTCATTCCTCTCCTC		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932183	A A	AGGAGAGG others(193): Show AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGGGCAGAGGAA TGAGTGAGTGGGCAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCG GGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAA TGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCG G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0160 a0002c0001t0160	a0002c0001t0160g0357 a0002c0001t0160g0357	1	386	0.0026	200	c.198 others(217): Show c.198+2027_198+2028insCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCTCGCTCAC TCATTCCTCTGCCCACTCACTCATTCCTCTGCCCACTCACTCATTCCTCT CCTCACTCACTCATTCCTCTCC		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932305	G G	GAGAGGAG others(193): Show GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGG CAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTG AGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGG C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0100 a0002c0001t0100	a0002c0001t0100g0135 a0002c0001t0100g0135	1	386	0.0026	200	c.198 others(217): Show c.198+1905_198+1906insGCCCGCTCACTCACTCCTCTGCCCGCTC ACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCT CTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTC ACTCACTCCTCTGCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCT CTCCCCGCTCACTCACTCCTCT		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar

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Search Results (Total: 10000 hits)