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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	chr	external
CTPS1_chr1_40974696_41017565	40979749	T T	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02698.hp2 HG02738.hp2 HG03017.hp2 others(1): Show HG02698.hp2 HG02738.hp2 HG03017.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0069 a0001c0001t0005g0070 a0001c0001t0005g0071 others(1): Show a0001c0001t0005g0069 a0001c0001t0005g0070 a0001c0001t0005g0071 a0001c0001t0005g0073	4	388	0.0103	0	c.-94 others(3): Show c.-94T>G	CTPS1	ENSG00000171793.17	transcript	ENST00000650070.2	protein_coding	1/19	3542	chr1	TogoVar
CTPS2_chrX_16582999_16717669	16712386	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0001 a0001c0001t0009g0001	1	226	0.0044	0	c.-91 others(3): Show c.-91G>A	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	1/19	9484	chrX	TogoVar
CTPS2_chrX_16582999_16717669	16712561	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0225 a0001c0001t0014g0225	1	226	0.0044	0	c.-26 others(4): Show c.-266C>T	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	1/19	9659	chrX	TogoVar
CTPS2_chrX_16582999_16717669	16712660	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0226 a0001c0001t0015g0226	1	226	0.0044	0	c.-36 others(4): Show c.-365A>G	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	1/19	9758	chrX	TogoVar
CTR9_chr11_10746246_10784746	10751259	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18522.hp1 NA18906.hp2 NA18522.hp1 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0011 a0001c0002 a0004c0011	a0001c0002t0006 a0004c0011t0006 a0001c0002t0006 a0004c0011t0006	a0001c0002t0006g0079 a0004c0011t0006g0076 a0001c0002t0006g0079 a0004c0011t0006g0076	2	406	0.0049	0	c.-15 others(4): Show c.-154C>G	CTR9	ENSG00000198730.9	transcript	ENST00000361367.7	protein_coding	1/25	154	chr11	TogoVar
CTR9_chr11_10746246_10784746	10751289	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0003 a0001c0001t0007g0003	1	406	0.0025	0	c.-12 others(4): Show c.-124G>A	CTR9	ENSG00000198730.9	transcript	ENST00000361367.7	protein_coding	1/25	124	chr11	TogoVar
CTSB_chr8_11837524_11873087	11853464	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0051 a0002c0002t0051	a0002c0002t0051g0083 a0002c0002t0051g0083	1	438	0.0023	0	c.-10 others(3): Show c.-10G>A	CTSB	ENSG00000164733.23	transcript	ENST00000353047.11	protein_coding	2/10	10	chr8	TogoVar
CTSB_chr8_11837524_11873087	11853476	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01496.hp1 HG02647.hp1 NA20129.hp2 HG01496.hp1 HG02647.hp1 NA20129.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0030 a0004c0005t0050 a0004c0005t0030 a0004c0005t0050	a0004c0005t0030g0206 a0004c0005t0030g0207 a0004c0005t0050g0204 a0004c0005t0030g0206 a0004c0005t0030g0207 a0004c0005t0050g0204	3	438	0.0069	0	c.-22 others(3): Show c.-22G>A	CTSB	ENSG00000164733.23	transcript	ENST00000353047.11	protein_coding	2/10	22	chr8	TogoVar
CTSB_chr8_11837524_11873087	11868017	G G	GAGCCTGC others(5): Show GAGCCTGCAGCCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02896.hp2 HG02897.hp2 NA19030.hp2 HG02896.hp2 HG02897.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0029 a0001c0004t0029	a0001c0004t0029g0376 a0001c0004t0029g0377 a0001c0004t0029g0378 a0001c0004t0029g0376 a0001c0004t0029g0377 a0001c0004t0029g0378	3	438	0.0069	12	c.-54 others(19): Show c.-54_-43dupGGGCTGCAGGCT	CTSB	ENSG00000164733.23	transcript	ENST00000353047.11	protein_coding	1/10	14564	chr8	TogoVar
CTSC_chr11_88288592_88342736	88337690	A A	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00735.hp2 HG01069.hp2 HG01071.hp2 others(14): Show HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG02300.hp1 HG02717.hp2 HG03195.hp1 HG03516.hp1 HG03710.hp2 HG06807.hp2 NA19240.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007	a0001c0001t0002g0006 a0001c0001t0002g0048 a0001c0001t0002g0049 others(10): Show a0001c0001t0002g0006 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0005g0056 a0001c0001t0007g0317	17	434	0.0392	0	c.-18 others(3): Show c.-18T>C	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding	1/7	18	chr11	TogoVar
CTSC_chr11_88288592_88342736	88337707	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0047 a0001c0001t0004g0047	1	434	0.0023	0	c.-35 others(3): Show c.-35G>C	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding	1/7	35	chr11	TogoVar
CTSD_chr11_1747755_1768927	1763862	C C	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0191 a0001c0001t0015g0191	1	386	0.0026	0	c.-3G others(2): Show c.-3G>T	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	1/9	3	chr11	TogoVar
CTSD_chr11_1747755_1768927	1763912	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0017 a0002c0003t0017	a0002c0003t0017g0193 a0002c0003t0017g0193	1	386	0.0026	0	c.-53 others(3): Show c.-53C>T	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	1/9	53	chr11	TogoVar
CTSE_chr1_206004264_206028895	206023800	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01243.hp2 others(49): Show HG01069.hp1 HG01071.hp2 HG01243.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp2 HG03834.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18975.hp1 NA19240.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0002c0004 a0002c0005 a0002c0010 a0009c0011	a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 others(14): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0002t0002 a0001c0002t0014 a0001c0003t0002 a0001c0003t0005 a0001c0007t0011 a0002c0004t0002 a0002c0004t0009 a0002c0005t0016 a0002c0010t0002 a0009c0011t0002	a0001c0001t0002g0015 a0001c0001t0002g0041 a0001c0001t0002g0044 others(26): Show a0001c0001t0002g0015 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0052 a0001c0001t0006g0016 a0001c0001t0010g0021 a0001c0001t0011g0055 a0001c0001t0015g0045 a0001c0001t0017g0043 a0001c0001t0018g0056 a0001c0002t0002g0024 a0001c0002t0002g0040 a0001c0002t0002g0046 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0014g0048 a0001c0003t0002g0009 a0001c0003t0002g0022 a0001c0003t0002g0023 a0001c0003t0002g0047 a0001c0003t0005g0011 a0001c0007t0011g0051 a0002c0004t0002g0007 a0002c0004t0002g0017 a0002c0004t0002g0053 a0002c0004t0009g0025 a0002c0005t0016g0039 a0002c0010t0002g0054 a0009c0011t0002g0042	52	302	0.1722	0	c.-9G others(2): Show c.-9G>A	CTSE	ENSG00000196188.12	transcript	ENST00000358184.7	protein_coding	1/9	9	chr1	TogoVar
CTSF_chr11_66558464_66573606	66568532	ACCCACCG others(9): Show ACCCACCGGGTACCGAG	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0045 a0001c0001t0009g0045	1	412	0.0024	-16	c.-62 others(23): Show c.-62_-47delCTCGGTACCCGGTGGG	CTSF	ENSG00000174080.12	transcript	ENST00000310325.10	protein_coding	1/13	47	chr11	TogoVar
CTSF_chr11_66558464_66573606	66568541	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0044 a0001c0002t0008g0044	1	412	0.0024	0	c.-55 others(3): Show c.-55C>T	CTSF	ENSG00000174080.12	transcript	ENST00000310325.10	protein_coding	1/13	55	chr11	TogoVar
CTSF_chr11_66558464_66573606	66568561	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0024 a0002c0005t0005g0024	1	412	0.0024	0	c.-75 others(3): Show c.-75C>A	CTSF	ENSG00000174080.12	transcript	ENST00000310325.10	protein_coding	1/13	75	chr11	TogoVar
CTSH_chr15_78916058_78950046	78944982	C C	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(96): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02083.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp1 HG02602.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18939.hp2 NA18944.hp1 NA18947.hp2 NA18959.hp2 NA18963.hp1 NA18968.hp1 NA18973.hp2 NA18975.hp2 NA18995.hp1 NA19003.hp2 NA19056.hp1 NA19057.hp2 NA19077.hp2 NA19078.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0010 a0011	a0001c0001 a0001c0013 a0002c0003 others(5): Show a0001c0001 a0001c0013 a0002c0003 a0002c0006 a0002c0010 a0007c0009 a0010c0012 a0011c0011	a0001c0001t0008 a0001c0013t0002 a0002c0003t0002 others(12): Show a0001c0001t0008 a0001c0013t0002 a0002c0003t0002 a0002c0003t0006 a0002c0003t0008 a0002c0003t0012 a0002c0003t0014 a0002c0003t0015 a0002c0003t0021 a0002c0006t0002 a0002c0006t0017 a0002c0010t0002 a0007c0009t0002 a0010c0012t0002 a0011c0011t0002	a0001c0001t0008g0038 a0001c0001t0008g0039 a0001c0001t0008g0343 others(86): Show a0001c0001t0008g0038 a0001c0001t0008g0039 a0001c0001t0008g0343 a0001c0013t0002g0342 a0002c0003t0002g0013 a0002c0003t0002g0033 a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0002g0036 a0002c0003t0002g0037 a0002c0003t0002g0266 a0002c0003t0002g0270 a0002c0003t0002g0272 a0002c0003t0002g0275 a0002c0003t0002g0276 a0002c0003t0002g0277 a0002c0003t0002g0278 a0002c0003t0002g0279 a0002c0003t0002g0280 a0002c0003t0002g0281 a0002c0003t0002g0282 a0002c0003t0002g0283 a0002c0003t0002g0284 a0002c0003t0002g0286 a0002c0003t0002g0287 a0002c0003t0002g0289 a0002c0003t0002g0290 a0002c0003t0002g0292 a0002c0003t0002g0293 a0002c0003t0002g0294 a0002c0003t0002g0295 a0002c0003t0002g0296 a0002c0003t0002g0297 a0002c0003t0002g0298 a0002c0003t0002g0299 a0002c0003t0002g0300 a0002c0003t0002g0301 a0002c0003t0002g0304 a0002c0003t0002g0305 a0002c0003t0002g0306 a0002c0003t0002g0307 a0002c0003t0002g0308 a0002c0003t0002g0309 a0002c0003t0002g0311 a0002c0003t0002g0312 a0002c0003t0002g0313 a0002c0003t0002g0314 a0002c0003t0002g0315 a0002c0003t0002g0316 a0002c0003t0002g0318 a0002c0003t0002g0320 a0002c0003t0002g0323 a0002c0003t0002g0326 a0002c0003t0002g0328 a0002c0003t0002g0329 a0002c0003t0002g0330 a0002c0003t0002g0331 a0002c0003t0002g0335 a0002c0003t0002g0336 a0002c0003t0002g0338 a0002c0003t0002g0339 a0002c0003t0002g0340 a0002c0003t0002g0341 a0002c0003t0006g0271 a0002c0003t0006g0274 a0002c0003t0006g0291 a0002c0003t0006g0303 a0002c0003t0006g0310 a0002c0003t0006g0317 a0002c0003t0006g0322 a0002c0003t0006g0332 a0002c0003t0008g0333 a0002c0003t0012g0321 a0002c0003t0012g0324 a0002c0003t0012g0334 a0002c0003t0014g0319 a0002c0003t0014g0325 a0002c0003t0015g0285 a0002c0003t0015g0288 a0002c0003t0021g0337 a0002c0006t0002g0032 a0002c0006t0002g0267 a0002c0006t0002g0268 a0002c0006t0002g0269 a0002c0006t0017g0041 a0002c0010t0002g0273 a0007c0009t0002g0265 a0010c0012t0002g0327 a0011c0011t0002g0302	99	414	0.2391	0	c.-1G others(2): Show c.-1G>T	CTSH	ENSG00000103811.18	transcript	ENST00000220166.10	protein_coding	1/12	1	chr15	TogoVar
CTSH_chr15_78916058_78950046	78944994	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0017 a0002c0006t0017	a0002c0006t0017g0041 a0002c0006t0017g0041	1	414	0.0024	0	c.-13 others(3): Show c.-13C>A	CTSH	ENSG00000103811.18	transcript	ENST00000220166.10	protein_coding	1/12	13	chr15	TogoVar
CTSH_chr15_78916058_78950046	78944996	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0040 a0001c0002t0016g0040	1	414	0.0024	0	c.-15 others(3): Show c.-15G>A	CTSH	ENSG00000103811.18	transcript	ENST00000220166.10	protein_coding	1/12	15	chr15	TogoVar
CTSL_chr9_87721119_87736469	87726127	G G	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01928.hp2 HG01943.hp1 HG02004.hp2 HG01928.hp2 HG01943.hp1 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	3	388	0.0077	0	c.-28 others(4): Show c.-282G>C	CTSL	ENSG00000135047.16	transcript	ENST00000343150.10	protein_coding	1/8	1477	chr9	TogoVar
CTSL_chr9_87721119_87736469	87726151	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01433.hp2 HG01496.hp1 HG01433.hp2 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0020 a0001c0001t0004g0020	2	388	0.0052	0	c.-25 others(4): Show c.-258C>T	CTSL	ENSG00000135047.16	transcript	ENST00000343150.10	protein_coding	1/8	1453	chr9	TogoVar
CTSL_chr9_87721119_87736469	87726159	T T	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01109.hp1 HG02451.hp1 HG02559.hp2 others(4): Show HG01109.hp1 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG03041.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0023 a0001c0001t0002g0044 a0001c0001t0002g0012 a0001c0001t0002g0023 a0001c0001t0002g0044	7	388	0.0180	0	c.-25 others(4): Show c.-250T>G	CTSL	ENSG00000135047.16	transcript	ENST00000343150.10	protein_coding	1/8	1445	chr9	TogoVar
CTSL_chr9_87721119_87736469	87726221	A A	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01433.hp2 HG01496.hp1 HG01433.hp2 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0020 a0001c0001t0004g0020	2	388	0.0052	0	c.-18 others(4): Show c.-188A>G	CTSL	ENSG00000135047.16	transcript	ENST00000343150.10	protein_coding	1/8	1383	chr9	TogoVar
CTSL_chr9_87721119_87736469	87726281	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0042 a0001c0001t0005g0042	1	388	0.0026	0	c.-12 others(4): Show c.-128G>A	CTSL	ENSG00000135047.16	transcript	ENST00000343150.10	protein_coding	1/8	1323	chr9	TogoVar
CTSS_chr1_150725188_150770778	150765721	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(136): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02165.hp1 HG02273.hp2 HG02293.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02615.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG03017.hp1 HG03017.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18747.hp2 NA18939.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18989.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19006.hp2 NA19009.hp1 NA19054.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19076.hp1 NA19076.hp2 NA19078.hp2 NA19079.hp1 NA19084.hp1 NA19090.hp2 NA19240.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 a0003c0003t0001 a0003c0003t0006	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009 others(113): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0011g0182 a0001c0001t0012g0187 a0003c0003t0001g0023 a0003c0003t0001g0110 a0003c0003t0001g0111 a0003c0003t0006g0022	139	344	0.4041	0	c.-25 others(3): Show c.-25G>A	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	1/8	958	chr1	TogoVar
CTSS_chr1_150725188_150770778	150765724	A A	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp2 others(107): Show HG00140.hp2 HG00323.hp1 HG00408.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01074.hp2 HG01109.hp1 HG01255.hp2 HG01257.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp2 HG02083.hp2 HG02132.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp2 HG02602.hp1 HG02647.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18944.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18986.hp1 NA18989.hp1 NA18995.hp1 NA19001.hp1 NA19005.hp1 NA19006.hp1 NA19009.hp2 NA19010.hp2 NA19057.hp2 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19070.hp2 NA19078.hp1 NA19079.hp2 NA19085.hp2 NA19090.hp1 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0002c0002t0002 a0002c0002t0004 others(4): Show a0001c0001t0008 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0009 a0002c0002t0010	a0001c0001t0008g0103 a0002c0002t0002g0002 a0002c0002t0002g0004 others(83): Show a0001c0001t0008g0103 a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0008 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0040 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0060 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0004g0036 a0002c0002t0004g0037 a0002c0002t0004g0038 a0002c0002t0004g0039 a0002c0002t0004g0041 a0002c0002t0004g0045 a0002c0002t0005g0049 a0002c0002t0005g0059 a0002c0002t0005g0062 a0002c0002t0005g0082 a0002c0002t0005g0083 a0002c0002t0005g0090 a0002c0002t0007g0078 a0002c0002t0009g0061 a0002c0002t0010g0087	110	344	0.3198	0	c.-28 others(3): Show c.-28T>C	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	1/8	961	chr1	TogoVar
CTSV_chr9_97024677_97044142	97039125	A A	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0039 a0001c0001t0016g0039	1	410	0.0024	0	c.-65 others(3): Show c.-65T>C	CTSV	ENSG00000136943.12	transcript	ENST00000259470.6	protein_coding	1/8	1082	chr9	TogoVar
CTSW_chr11_65874837_65888741	65879854	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02015.hp1 HG02135.hp1 NA18968.hp1 others(3): Show HG02015.hp1 HG02135.hp1 NA18968.hp1 NA19001.hp2 NA19066.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	6	366	0.0164	0	c.-1C others(2): Show c.-1C>T	CTSW	ENSG00000172543.9	transcript	ENST00000307886.8	protein_coding	1/10	1	chr11	TogoVar
CTSZ_chr20_58990185_59012254	59007130	G G	GC GC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02738.hp2 HG03239.hp2 NA19067.hp1 others(1): Show HG02738.hp2 HG03239.hp2 NA19067.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0011 a0001c0001t0009 a0001c0001t0011	a0001c0001t0009g0123 a0001c0001t0009g0124 a0001c0001t0009g0125 others(1): Show a0001c0001t0009g0123 a0001c0001t0009g0124 a0001c0001t0009g0125 a0001c0001t0011g0056	4	436	0.0092	1	c.-3d others(3): Show c.-3dupG	CTSZ	ENSG00000101160.15	transcript	ENST00000217131.6	protein_coding	1/6	3	chr20	TogoVar
CTSZ_chr20_58990185_59012254	59007159	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02965.hp1 HG02976.hp1 others(5): Show HG02109.hp2 HG02965.hp1 HG02976.hp1 HG03195.hp2 HG03453.hp1 HG03486.hp1 NA18522.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0014 a0001c0001t0006g0179 a0001c0001t0006g0180 others(1): Show a0001c0001t0006g0014 a0001c0001t0006g0179 a0001c0001t0006g0180 a0001c0001t0006g0181	8	436	0.0184	0	c.-31 others(3): Show c.-31C>A	CTSZ	ENSG00000101160.15	transcript	ENST00000217131.6	protein_coding	1/6	31	chr20	TogoVar
CTSZ_chr20_58990185_59012254	59007189	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0178 a0001c0002t0016g0178	1	436	0.0023	0	c.-61 others(3): Show c.-61G>A	CTSZ	ENSG00000101160.15	transcript	ENST00000217131.6	protein_coding	1/6	61	chr20	TogoVar
CTSZ_chr20_58990185_59012254	59007205	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0126 a0001c0001t0013g0126	1	436	0.0023	0	c.-77 others(3): Show c.-77A>G	CTSZ	ENSG00000101160.15	transcript	ENST00000217131.6	protein_coding	1/6	77	chr20	TogoVar
CTSZ_chr20_58990185_59012254	59007208	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0126 a0001c0001t0013g0126	1	436	0.0023	0	c.-80 others(3): Show c.-80G>C	CTSZ	ENSG00000101160.15	transcript	ENST00000217131.6	protein_coding	1/6	80	chr20	TogoVar
CTSZ_chr20_58990185_59012254	59007212	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0126 a0001c0001t0013g0126	1	436	0.0023	0	c.-84 others(3): Show c.-84G>A	CTSZ	ENSG00000101160.15	transcript	ENST00000217131.6	protein_coding	1/6	84	chr20	TogoVar
CTSZ_chr20_58990185_59012254	59007224	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0126 a0001c0001t0013g0126	1	436	0.0023	0	c.-96 others(3): Show c.-96A>G	CTSZ	ENSG00000101160.15	transcript	ENST00000217131.6	protein_coding	1/6	96	chr20	TogoVar
CTSZ_chr20_58990185_59012254	59007224	T T	TCGGCCC TCGGCCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00642.hp2 others(52): Show HG00323.hp1 HG00544.hp2 HG00642.hp2 HG00673.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01169.hp1 HG01261.hp2 HG01516.hp2 HG01517.hp2 HG01934.hp2 HG01952.hp2 HG02004.hp2 HG02015.hp1 HG02074.hp2 HG02109.hp2 HG02132.hp1 HG02148.hp2 HG02155.hp1 HG02300.hp2 HG02486.hp2 HG02683.hp1 HG02735.hp1 HG02738.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03195.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03942.hp1 NA18522.hp2 NA18612.hp2 NA18940.hp1 NA18944.hp2 NA18959.hp1 NA18997.hp2 NA19011.hp1 NA19054.hp2 NA19058.hp2 NA19067.hp2 NA19079.hp1 NA20129.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0001c0002 a0005c0010 others(1): Show a0001c0001 a0001c0002 a0005c0010 a0008c0005	a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 others(5): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0002t0005 a0001c0002t0016 a0001c0002t0017 a0005c0010t0005 a0008c0005t0005	a0001c0001t0005g0021 a0001c0001t0005g0184 a0001c0001t0005g0191 others(29): Show a0001c0001t0005g0021 a0001c0001t0005g0184 a0001c0001t0005g0191 a0001c0001t0005g0197 a0001c0001t0006g0014 a0001c0001t0006g0179 a0001c0001t0006g0180 a0001c0001t0006g0181 a0001c0001t0007g0052 a0001c0001t0007g0054 a0001c0002t0005g0010 a0001c0002t0005g0022 a0001c0002t0005g0032 a0001c0002t0005g0033 a0001c0002t0005g0053 a0001c0002t0005g0182 a0001c0002t0005g0183 a0001c0002t0005g0185 a0001c0002t0005g0186 a0001c0002t0005g0187 a0001c0002t0005g0188 a0001c0002t0005g0189 a0001c0002t0005g0192 a0001c0002t0005g0193 a0001c0002t0005g0194 a0001c0002t0005g0196 a0001c0002t0005g0198 a0001c0002t0005g0199 a0001c0002t0016g0178 a0001c0002t0017g0190 a0005c0010t0005g0195 a0008c0005t0005g0200	55	436	0.1262	6	c.-10 others(14): Show c.-102_-97dupGGGCCG	CTSZ	ENSG00000101160.15	transcript	ENST00000217131.6	protein_coding	1/6	97	chr20	TogoVar
CTSZ_chr20_58990185_59012254	59007226	G G	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG06807.hp2 NA18522.hp1 HG06807.hp2 NA18522.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0055 a0002c0003t0010g0055	2	436	0.0046	0	c.-98 others(3): Show c.-98C>G	CTSZ	ENSG00000101160.15	transcript	ENST00000217131.6	protein_coding	1/6	98	chr20	TogoVar
CTSZ_chr20_58990185_59012254	59007230	C C	CCGGCCT CCGGCCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(245): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG03098.hp1 HG03130.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0003c0007 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0012 a0001c0002t0001 a0001c0002t0008 a0001c0004t0001 a0003c0007t0002 a0006c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(94): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0034 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0009g0123 a0001c0001t0009g0124 a0001c0001t0009g0125 a0001c0001t0012g0111 a0001c0002t0001g0089 a0001c0002t0008g0078 a0001c0002t0008g0095 a0001c0002t0008g0117 a0001c0004t0001g0083 a0001c0004t0001g0084 a0003c0007t0002g0060 a0006c0008t0001g0099	248	436	0.5688	6	c.-10 others(15): Show c.-103_-102insAGGCCG	CTSZ	ENSG00000101160.15	transcript	ENST00000217131.6	protein_coding	1/6	103	chr20	TogoVar
CTSZ_chr20_58990185_59012254	59007230	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0126 a0001c0001t0013g0126	1	436	0.0023	0	c.-10 others(4): Show c.-102G>A	CTSZ	ENSG00000101160.15	transcript	ENST00000217131.6	protein_coding	1/6	102	chr20	TogoVar
CTSZ_chr20_58990185_59012254	59007231	A A	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0056 a0001c0001t0011g0056	1	436	0.0023	0	c.-10 others(4): Show c.-103T>G	CTSZ	ENSG00000101160.15	transcript	ENST00000217131.6	protein_coding	1/6	103	chr20	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112396218	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01433.hp1 HG03195.hp1 HG01433.hp1 HG03195.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0017 a0001c0010t0017	a0001c0010t0017g0034 a0001c0010t0017g0035 a0001c0010t0017g0034 a0001c0010t0017g0035	2	324	0.0062	0	c.-18 others(4): Show c.-188G>T	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding	1/6	19948	chr1	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112396230	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02630.hp1 HG02723.hp1 HG02630.hp1 HG02723.hp1	a0003 a0003	a0003c0006 a0003c0013 a0003c0006 a0003c0013	a0003c0006t0016 a0003c0013t0016 a0003c0006t0016 a0003c0013t0016	a0003c0006t0016g0014 a0003c0013t0016g0013 a0003c0006t0016g0014 a0003c0013t0016g0013	2	324	0.0062	0	c.-17 others(4): Show c.-176G>T	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding	1/6	19936	chr1	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112396243	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02818.hp1 HG03098.hp2 HG02818.hp1 HG03098.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0014 a0001c0007t0014	a0001c0007t0014g0128 a0001c0007t0014g0129 a0001c0007t0014g0128 a0001c0007t0014g0129	2	324	0.0062	0	c.-16 others(4): Show c.-163G>A	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding	1/6	19923	chr1	TogoVar
CTTN_chr11_70393529_70441575	70398550	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00558.hp1 others(68): Show HG00099.hp1 HG00099.hp2 HG00558.hp1 HG00735.hp1 HG01106.hp1 HG01175.hp1 HG01256.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG01981.hp2 HG01993.hp1 HG02109.hp1 HG02132.hp1 HG02145.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03927.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp2 NA18946.hp2 NA18997.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19066.hp2 NA19240.hp1 NA19240.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0011 a0001c0013 a0001c0015 a0001c0016 a0002c0004 a0005c0008	a0001c0001t0003 a0001c0001t0013 a0001c0001t0014 others(18): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0002t0010 a0001c0002t0020 a0001c0003t0005 a0001c0003t0008 a0001c0003t0011 a0001c0003t0019 a0001c0006t0012 a0001c0011t0012 a0001c0013t0013 a0001c0015t0003 a0001c0016t0010 a0002c0004t0004 a0002c0004t0010 a0002c0004t0018 a0005c0008t0004	a0001c0001t0003g0010 a0001c0001t0003g0013 a0001c0001t0003g0045 others(50): Show a0001c0001t0003g0010 a0001c0001t0003g0013 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0013g0049 a0001c0001t0014g0237 a0001c0001t0014g0239 a0001c0001t0017g0236 a0001c0001t0021g0232 a0001c0001t0022g0238 a0001c0002t0010g0060 a0001c0002t0010g0070 a0001c0002t0020g0059 a0001c0003t0005g0006 a0001c0003t0005g0014 a0001c0003t0005g0056 a0001c0003t0005g0061 a0001c0003t0005g0062 a0001c0003t0005g0064 a0001c0003t0005g0066 a0001c0003t0005g0069 a0001c0003t0008g0005 a0001c0003t0008g0006 a0001c0003t0008g0063 a0001c0003t0008g0067 a0001c0003t0011g0057 a0001c0003t0011g0065 a0001c0003t0011g0072 a0001c0003t0019g0058 a0001c0006t0012g0075 a0001c0006t0012g0076 a0001c0011t0012g0074 a0001c0013t0013g0044 a0001c0015t0003g0050 a0001c0016t0010g0068 a0002c0004t0004g0004 a0002c0004t0004g0020 a0002c0004t0004g0042 a0002c0004t0004g0100 a0002c0004t0004g0101 a0002c0004t0004g0233 a0002c0004t0004g0235 a0002c0004t0004g0240 a0002c0004t0010g0004 a0002c0004t0018g0020 a0005c0008t0004g0234	71	322	0.2205	0	c.-16 others(4): Show c.-162T>C	CTTN	ENSG00000085733.16	transcript	ENST00000301843.13	protein_coding	1/18	8748	chr11	TogoVar
CTTN_chr11_70393529_70441575	70398555	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0150 a0001c0001t0023g0150	1	322	0.0031	0	c.-15 others(4): Show c.-157G>A	CTTN	ENSG00000085733.16	transcript	ENST00000301843.13	protein_coding	1/18	8743	chr11	TogoVar
CTU1_chr19_51092606_51113409	51104585	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0088 a0001c0001t0028g0088	1	454	0.0022	0	c.-16 others(3): Show c.-16G>A	CTU1	ENSG00000142544.7	transcript	ENST00000421832.3	protein_coding	2/3	16	chr19	TogoVar
CTU2_chr16_88701503_88720396	88706520	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG00597.hp2 others(31): Show HG00280.hp1 HG00558.hp1 HG00597.hp2 HG00738.hp2 HG01109.hp2 HG01168.hp1 HG01257.hp2 HG01346.hp2 HG02630.hp2 HG02698.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02970.hp2 HG03041.hp2 HG03225.hp1 HG03486.hp1 HG03579.hp2 HG03669.hp2 HG04184.hp1 NA18941.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18987.hp2 NA18988.hp1 NA18993.hp1 NA19005.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA21309.hp1 NA21309.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0003 a0003c0004 a0003c0019 others(3): Show a0002c0003 a0003c0004 a0003c0019 a0003c0038 a0003c0040 a0004c0005	a0002c0003t0004 a0003c0004t0003 a0003c0004t0004 others(4): Show a0002c0003t0004 a0003c0004t0003 a0003c0004t0004 a0003c0019t0003 a0003c0038t0004 a0003c0040t0003 a0004c0005t0004	a0002c0003t0004g0067 a0003c0004t0003g0021 a0003c0004t0003g0040 others(21): Show a0002c0003t0004g0067 a0003c0004t0003g0021 a0003c0004t0003g0040 a0003c0004t0003g0041 a0003c0004t0003g0042 a0003c0004t0003g0049 a0003c0004t0003g0185 a0003c0004t0003g0189 a0003c0004t0003g0191 a0003c0004t0003g0192 a0003c0004t0003g0193 a0003c0004t0003g0194 a0003c0004t0003g0204 a0003c0004t0003g0205 a0003c0004t0003g0208 a0003c0004t0004g0013 a0003c0004t0004g0183 a0003c0004t0004g0186 a0003c0004t0004g0188 a0003c0004t0004g0195 a0003c0019t0003g0048 a0003c0038t0004g0009 a0003c0040t0003g0190 a0004c0005t0004g0043	34	418	0.0813	0	c.-11 others(3): Show c.-11C>T	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	1/15	11	chr16	TogoVar
CTXN1_chr19_7919491_7931135	7926051	C C	CCGG CCGG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02622.hp2 HG02717.hp2 HG03130.hp1 others(3): Show HG02622.hp2 HG02717.hp2 HG03130.hp1 HG03209.hp2 HG03516.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0010 a0001c0001t0008 a0001c0001t0010	a0001c0001t0008g0012 a0001c0001t0010g0017 a0001c0001t0008g0012 a0001c0001t0010g0017	6	424	0.0142	3	c.-10 others(12): Show c.-108_-106dupCCG	CTXN1	ENSG00000178531.6	transcript	ENST00000318978.6	protein_coding	1/2	514	chr19	TogoVar
CTXN1_chr19_7919491_7931135	7926120	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0022 a0001c0001t0013g0022	1	424	0.0024	0	c.-17 others(4): Show c.-174C>A	CTXN1	ENSG00000178531.6	transcript	ENST00000318978.6	protein_coding	1/2	582	chr19	TogoVar

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