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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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
CD109_chr6_73691203_73833313	73707988	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0100 a0002c0002t0002g0100	1	362	0.0028	-21	c.247 others(40): Show c.247+10418_247+10438delATATATATATATATATATATT		CD109	ENSG00000156535.15	transcript	ENST00000287097.6	protein_coding	2/32					INFO_REALIGN_3_PRIME	chr6	TogoVar
CD109_chr6_73691203_73833313	73780918	GTGTGTAA others(14): Show GTGTGTAAGACTGATGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0035 a0003c0004t0035	a0003c0004t0035g0144 a0003c0004t0035g0144	1	362	0.0028	-21	c.190 others(38): Show c.1903-335_1903-315delAAGACTGATGTGTGTATGTGT		CD109	ENSG00000156535.15	transcript	ENST00000287097.6	protein_coding	16/32					INFO_REALIGN_3_PRIME	chr6	TogoVar
CD1A_chr1_158249424_158263269	158254031	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0013 a0001c0004t0002g0013	1	446	0.0022	-21	c.-63 others(30): Show c.-638_-618delTTTTTTTTTTTTTTTTTTTTT		CD1A	ENSG00000158477.7	transcript	ENST00000289429.6	protein_coding					392		chr1	TogoVar
CD200_chr3_112328156_112367812	112342321	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA19081.hp2 HG02622.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0256 a0001c0008t0001g0240 a0001c0001t0001g0256 a0001c0008t0001g0240	2	408	0.0049	-21	c.94+ others(36): Show c.94+1341_94+1361delTCTTTCTTTCTTTCCTTCTTT		CD200	ENSG00000091972.18	transcript	ENST00000315711.12	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
CD244_chr1_160825160_160867887	160828884	GAAAGAAA others(14): Show GAAAGAAAGAAAGAAAGAAAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01106.hp2 HG02055.hp1 others(2): Show HG01081.hp1 HG01106.hp2 HG02055.hp1 HG02486.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0001t0008 a0001c0009t0014 a0001c0001t0002 a0001c0001t0008 a0001c0009t0014	a0001c0001t0002g0040 a0001c0001t0008g0032 a0001c0009t0014g0244 others(1): Show a0001c0001t0002g0040 a0001c0001t0008g0032 a0001c0009t0014g0244 a0001c0009t0014g0245	5	404	0.0124	-21	c.24 others(32): Show c.2442_*2462delTCTTTCTTTCTTTCTTTCTTT		CD244	ENSG00000122223.13	transcript	ENST00000368034.9	protein_coding					1275		chr1	TogoVar
CD244_chr1_160825160_160867887	160828888	GAAAGAAA others(14): Show GAAAGAAAGAAAGAAAGAAAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG03654.hp2 NA18939.hp2 others(5): Show HG02056.hp1 HG03654.hp2 NA18939.hp2 NA18982.hp1 NA18991.hp1 NA18997.hp1 NA19064.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0045 a0001c0001t0002g0200 others(2): Show a0001c0001t0002g0001 a0001c0001t0002g0045 a0001c0001t0002g0200 a0001c0001t0002g0213 a0001c0001t0002g0217	8	404	0.0198	-21	c.24 others(32): Show c.2438_*2458delTCTTTCTTTCTTTCTTTCTTT		CD244	ENSG00000122223.13	transcript	ENST00000368034.9	protein_coding					1271		chr1	TogoVar
CD276_chr15_73679383_73719514	73718257	TATATATA others(14): Show TATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	384	0.0026	-21	c.53 others(32): Show c.5302_*5322delATATATATATATATATATATA		CD276	ENSG00000103855.18	transcript	ENST00000318443.10	protein_coding					3744		chr15	TogoVar
CD276_chr15_73679383_73719514	73718259	TATATATA others(14): Show TATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0224	1	384	0.0026	-21	c.53 others(32): Show c.5304_*5324delATATATATATATATATATATA		CD276	ENSG00000103855.18	transcript	ENST00000318443.10	protein_coding					3746		chr15	TogoVar
CD276_chr15_73679383_73719514	73718260	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0291 a0001c0001t0014g0291	1	384	0.0026	-21	c.53 others(32): Show c.5305_*5325delTATATATATATATATATATAT		CD276	ENSG00000103855.18	transcript	ENST00000318443.10	protein_coding					3747		chr15	TogoVar
CD276_chr15_73679383_73719514	73718262	ATATATAT others(14): Show ATATATATATATATATATATTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0286 a0001c0001t0002g0286	1	384	0.0026	-21	c.53 others(32): Show c.5307_*5327delTATATATATATATATATATTT		CD276	ENSG00000103855.18	transcript	ENST00000318443.10	protein_coding					3749		chr15	TogoVar
CD276_chr15_73679383_73719514	73718264	ATATATAT others(14): Show ATATATATATATATATATTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0006 a0002c0002t0004g0006	1	384	0.0026	-21	c.53 others(32): Show c.5309_*5329delTATATATATATATATATTTTT		CD276	ENSG00000103855.18	transcript	ENST00000318443.10	protein_coding					3751		chr15	TogoVar
CD276_chr15_73679383_73719514	73718266	ATATATAT others(14): Show ATATATATATATATATTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG03486.hp1 HG02717.hp2 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0006 a0002c0002t0004g0130 a0002c0002t0004g0006 a0002c0002t0004g0130	2	384	0.0052	-21	c.53 others(32): Show c.5311_*5331delTATATATATATATATTTTTTT		CD276	ENSG00000103855.18	transcript	ENST00000318443.10	protein_coding					3753		chr15	TogoVar
CD276_chr15_73679383_73719514	73718272	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	384	0.0026	-21	c.53 others(32): Show c.5317_*5337delTATATATATTTTTTTTTTTTT		CD276	ENSG00000103855.18	transcript	ENST00000318443.10	protein_coding					3759		chr15	TogoVar
CD33_chr19_51220080_51245016	51233506	CCACTGGC others(14): Show CCACTGGCCCCCAGAGGAGGGT	C C	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	366	0.0027	-21	c.746 others(38): Show c.746-1650_746-1630delCACTGGCCCCCAGAGGAGGGT		CD33	ENSG00000105383.15	transcript	ENST00000262262.5	protein_coding	4/6						chr19	TogoVar
CD40_chr20_46113314_46134858	46124751	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG02257.hp1 others(11): Show HG01257.hp2 HG01258.hp1 HG02257.hp1 HG02451.hp1 HG02559.hp1 HG02630.hp2 HG02809.hp2 HG02818.hp2 HG02970.hp2 HG03195.hp2 HG03209.hp2 HG06807.hp2 NA19030.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 others(5): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0170 a0001c0001t0001g0189 a0001c0001t0007g0066	14	416	0.0337	-21	c.497 others(38): Show c.497+1545_497+1565delTTTTTTTTTTTTTTTTTTTTT		CD40	ENSG00000101017.15	transcript	ENST00000372285.8	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr20	TogoVar
CD47_chr3_108038091_108096031	108044427	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0272 a0001c0001t0033g0272	1	386	0.0026	-21	c.28 others(32): Show c.2840_*2860delGTTTTTTTTTTTTTTTTTTTT		CD47	ENSG00000196776.17	transcript	ENST00000361309.6	protein_coding	11/11				2840		chr3	TogoVar
CD52_chr1_26312958_26325523	26317544	ACAAACTC others(14): Show ACAAACTCATTTACGGAATATC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00639.hp2 others(65): Show HG00323.hp1 HG00544.hp2 HG00639.hp2 HG00733.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01358.hp2 HG01952.hp1 HG02056.hp2 HG02071.hp1 HG02258.hp1 HG02293.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp2 NA18949.hp2 NA18952.hp1 NA18965.hp1 NA18966.hp2 NA18970.hp1 NA18975.hp1 NA18977.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA19009.hp1 NA19012.hp2 NA19043.hp2 NA19057.hp1 NA19062.hp2 NA19077.hp2 NA19080.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0016 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0023	68	404	0.1683	-21	c.-47 others(30): Show c.-473_-453delCAAACTCATTTACGGAATATC		CD52	ENSG00000169442.9	transcript	ENST00000374213.3	protein_coding					413		chr1	TogoVar
CDC14B_chr9_96495113_96624843	96583370	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01081.hp2 others(7): Show HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01891.hp2 HG02970.hp2 HG02976.hp2 HG03579.hp1 NA18522.hp1 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 others(7): Show a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0218	10	220	0.0455	-21	c.161 others(40): Show c.161-17908_161-17888delTAATAATAATAATAATAATAA		CDC14B	ENSG00000081377.17	transcript	ENST00000375241.6	protein_coding	1/13						chr9	TogoVar
CDC14B_chr9_96495113_96624843	96604342	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA20129.hp2 HG01952.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0209 a0001c0002t0006g0210 a0001c0002t0006g0209 a0001c0002t0006g0210	2	220	0.0091	-21	c.160 others(40): Show c.160+14856_160+14876delTAATAATAATAATAATAATAA		CDC14B	ENSG00000081377.17	transcript	ENST00000375241.6	protein_coding	1/13						chr9	TogoVar
CDC16_chr13_114229897_114277723	114239080	TGCATCTC others(14): Show TGCATCTCTTAAATATGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00639.hp1 others(118): Show HG00408.hp1 HG00423.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01358.hp2 HG01433.hp2 HG01884.hp1 HG01891.hp1 HG02132.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18942.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp2 NA18972.hp1 NA18973.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp2 NA18994.hp1 NA18995.hp2 NA19000.hp1 NA19006.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19057.hp2 NA19067.hp2 NA19072.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0007 others(1): Show a0001c0002 a0001c0006 a0001c0007 a0001c0008	a0001c0002t0002 a0001c0002t0007 a0001c0002t0008 others(5): Show a0001c0002t0002 a0001c0002t0007 a0001c0002t0008 a0001c0002t0012 a0001c0002t0015 a0001c0006t0010 a0001c0007t0002 a0001c0008t0002	a0001c0002t0002g0003 a0001c0002t0002g0009 a0001c0002t0002g0010 others(70): Show a0001c0002t0002g0003 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0014 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0024 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0216 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0007g0049 a0001c0002t0007g0217 a0001c0002t0007g0218 a0001c0002t0008g0019 a0001c0002t0012g0219 a0001c0002t0015g0204 a0001c0006t0010g0215 a0001c0007t0002g0227 a0001c0008t0002g0222	121	380	0.3184	-21	c.240 others(34): Show c.240+54_240+74delCATCTCTTAAATATGTGTGAG		CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr13	TogoVar
CDC42BPA_chr1_226984865_227323492	227126504	GAAGGAAG others(14): Show GAAGGAAGGAAGGAAGGTAAGA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA21309.hp2 NA19030.hp2 NA21309.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0333 a0001c0006t0008g0338 a0001c0006t0008g0333 a0001c0006t0008g0338	2	352	0.0057	-21	c.151 others(40): Show c.1513+2584_1513+2604delTCTTACCTTCCTTCCTTCCTT		CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	11/36						chr1	TogoVar
CDC42BPA_chr1_226984865_227323492	227135854	CCAAAAAA others(14): Show CCAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG01192.hp2 others(8): Show HG00280.hp1 HG00639.hp2 HG01192.hp2 HG01934.hp2 HG01993.hp1 HG02083.hp2 HG02109.hp2 HG03942.hp1 HG04204.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0008 a0002c0002 a0009c0018 a0001c0008 a0002c0002 a0009c0018	a0001c0008t0009 a0001c0008t0018 a0002c0002t0001 others(3): Show a0001c0008t0009 a0001c0008t0018 a0002c0002t0001 a0002c0002t0021 a0002c0002t0059 a0009c0018t0034	a0001c0008t0009g0105 a0001c0008t0009g0107 a0001c0008t0009g0108 others(8): Show a0001c0008t0009g0105 a0001c0008t0009g0107 a0001c0008t0009g0108 a0001c0008t0009g0109 a0001c0008t0009g0111 a0001c0008t0018g0114 a0002c0002t0001g0231 a0002c0002t0021g0232 a0002c0002t0059g0229 a0009c0018t0034g0235 a0009c0018t0034g0236	11	352	0.0313	-21	c.139 others(40): Show c.1390+3701_1390+3721delTTTTTTTTTTTTTTTTTTTTG		CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	10/36						chr1	TogoVar
CDC42BPA_chr1_226984865_227323492	227135855	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01255.hp1 HG01257.hp1 others(4): Show HG01123.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01496.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0030 a0002c0002 a0002c0030	a0002c0002t0010 a0002c0030t0010 a0002c0002t0010 a0002c0030t0010	a0002c0002t0010g0258 a0002c0002t0010g0259 a0002c0002t0010g0261 others(4): Show a0002c0002t0010g0258 a0002c0002t0010g0259 a0002c0002t0010g0261 a0002c0002t0010g0262 a0002c0002t0010g0266 a0002c0002t0010g0304 a0002c0030t0010g0243	7	352	0.0199	-21	c.139 others(40): Show c.1390+3700_1390+3720delTTTTTTTTTTTTTTTTTTTTT		CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	10/36						chr1	TogoVar
CDC42BPB_chr14_102927380_103062549	102972688	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02280.hp1 HG03471.hp2 others(5): Show HG01175.hp2 HG02280.hp1 HG03471.hp2 HG03579.hp1 NA19007.hp2 NA19043.hp1 NA19066.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0014 a0001c0001t0025 others(4): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0025 a0001c0001t0035 a0001c0002t0002 a0001c0002t0010 a0001c0002t0034	a0001c0001t0001g0054 a0001c0001t0001g0106 a0001c0001t0014g0310 others(5): Show a0001c0001t0001g0054 a0001c0001t0001g0106 a0001c0001t0014g0310 a0001c0001t0025g0318 a0001c0001t0035g0109 a0001c0002t0002g0234 a0001c0002t0010g0255 a0001c0002t0034g0108	8	320	0.0250	-21	c.164 others(38): Show c.1642-548_1642-528delTTTTTTTTTTTTTTTTTTTTT		CDC42BPB	ENSG00000198752.11	transcript	ENST00000361246.7	protein_coding	12/36						chr14	TogoVar
CDC42BPB_chr14_102927380_103062549	103007933	GGCAGGCA others(14): Show GGCAGGCAGGAGGGAGACCAAT	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0254 a0001c0001t0039g0254	1	320	0.0031	-21	c.351 others(36): Show c.351+518_351+538delATTGGTCTCCCTCCTGCCTGC		CDC42BPB	ENSG00000198752.11	transcript	ENST00000361246.7	protein_coding	3/36						chr14	TogoVar
CDC42EP1_chr22_37555480_37574405	37559422	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00544.hp1 others(98): Show HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG01099.hp1 HG01167.hp1 HG01256.hp1 HG01361.hp2 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG02027.hp1 HG02027.hp2 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02717.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 NA18612.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18951.hp2 NA18952.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19005.hp1 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19057.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19089.hp2 NA19090.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0001c0010 a0001c0023 a0002c0002 a0002c0008 a0004c0019	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(9): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0003t0001 a0001c0004t0001 a0001c0009t0001 a0001c0010t0001 a0001c0023t0001 a0002c0002t0001 a0002c0002t0003 a0002c0008t0001 a0004c0019t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0010 others(62): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0008g0065 a0001c0001t0010g0035 a0001c0003t0001g0008 a0001c0003t0001g0050 a0001c0003t0001g0054 a0001c0004t0001g0053 a0001c0004t0001g0187 a0001c0009t0001g0178 a0001c0010t0001g0081 a0001c0023t0001g0011 a0002c0002t0001g0005 a0002c0002t0001g0019 a0002c0002t0001g0034 a0002c0002t0001g0055 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0090 a0002c0002t0001g0168 a0002c0002t0001g0174 a0002c0002t0001g0186 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0003g0004 a0002c0008t0001g0004 a0004c0019t0001g0175	101	448	0.2255	-21	c.-14 others(32): Show c.-1444_-1424delAAAAAAAAAAAAAAAAAAAAA		CDC42EP1	ENSG00000128283.7	transcript	ENST00000249014.5	protein_coding					1057		chr22	TogoVar
CDC42EP1_chr22_37555480_37574405	37568401	CCAGCGCC others(14): Show CCAGCGCCTGCTGCAAACCCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(151): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02040.hp2 HG02074.hp1 HG02080.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02258.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG03225.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18985.hp2 NA18986.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA19003.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19057.hp1 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0008 a0009 a0002 a0008 a0009	a0002c0002 a0002c0016 a0002c0024 others(2): Show a0002c0002 a0002c0016 a0002c0024 a0008c0020 a0009c0011	a0002c0002t0001 a0002c0002t0003 a0002c0002t0012 others(4): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0012 a0002c0016t0001 a0002c0024t0001 a0008c0020t0001 a0009c0011t0001	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0005 others(48): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0019 a0002c0002t0001g0022 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0041 a0002c0002t0001g0047 a0002c0002t0001g0055 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0082 a0002c0002t0001g0086 a0002c0002t0001g0090 a0002c0002t0001g0097 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0121 a0002c0002t0001g0124 a0002c0002t0001g0129 a0002c0002t0001g0136 a0002c0002t0001g0147 a0002c0002t0001g0151 a0002c0002t0001g0165 a0002c0002t0001g0168 a0002c0002t0001g0174 a0002c0002t0001g0184 a0002c0002t0001g0186 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0003g0001 a0002c0002t0003g0004 a0002c0002t0012g0027 a0002c0016t0001g0015 a0002c0024t0001g0001 a0008c0020t0001g0148 a0009c0011t0001g0111	154	448	0.3438	-21	c.762 others(28): Show c.762_782delGCCTGCTGCAAACCCCTCAGC	p.Pro others(13): Show p.Pro255_Ala261del	CDC42EP1	ENSG00000128283.7	transcript	ENST00000249014.5	protein_coding	3/3	1149/2148	762/1176	254/391		INFO_REALIGN_3_PRIME	chr22	TogoVar
CDC42EP1_chr22_37555480_37574405	37568406	GCCTGCTG others(14): Show GCCTGCTGCAAACCCCTCAGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18975.hp1 NA19011.hp1 NA19082.hp2 NA18975.hp1 NA19011.hp1 NA19082.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0004 a0002c0008t0001g0004	3	448	0.0067	-21	c.768 others(28): Show c.768_788delTGCAAACCCCTCAGCACCTGC	p.Ala others(13): Show p.Ala257_Ala263del	CDC42EP1	ENSG00000128283.7	transcript	ENST00000249014.5	protein_coding	3/3	1155/2148	768/1176	256/391		INFO_REALIGN_3_PRIME	chr22	TogoVar
CDC42EP3_chr2_37636944_37676642	37644871	AGTACCTA others(14): Show AGTACCTATGTAATGCAAGTAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp2 HG02486.hp2 HG02896.hp2 others(2): Show HG02451.hp2 HG02486.hp2 HG02896.hp2 HG03453.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0074 a0001c0001t0014g0091 a0001c0001t0014g0098 others(2): Show a0001c0001t0014g0074 a0001c0001t0014g0091 a0001c0001t0014g0098 a0001c0001t0014g0136 a0001c0001t0014g0142	5	430	0.0116	-21	c.93 others(30): Show c.931_*951delATACTTGCATTACATAGGTAC		CDC42EP3	ENSG00000163171.8	transcript	ENST00000295324.4	protein_coding	2/2				931		chr2	TogoVar
CDC42EP4_chr17_73278624_73317001	73294351	CAAAAAAA others(14): Show CAAAAAAAAACAAACAAAGAAA	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG03540.hp2 HG01256.hp1 HG01258.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0113 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0113	3	408	0.0074	-21	c.-11 others(40): Show c.-112-7760_-112-7740delTTTCTTTGTTTGTTTTTTTTT		CDC42EP4	ENSG00000179604.10	transcript	ENST00000335793.4	protein_coding	1/1						chr17	TogoVar
CDC42SE2_chr5_131259053_131399672	131273104	CATTCTGT others(14): Show CATTCTGTCTAGCTAGAATTAT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0030 a0001c0001t0008g0030	1	256	0.0039	-21	c.-45 others(40): Show c.-455+8941_-455+8961delTCTGTCTAGCTAGAATTATAT		CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131329879	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp2 HG01167.hp2 others(15): Show HG00738.hp1 HG01081.hp2 HG01167.hp2 HG01433.hp2 HG02055.hp2 HG02145.hp1 HG02280.hp1 HG02615.hp2 HG02809.hp1 HG03041.hp2 HG03139.hp1 HG03516.hp2 HG06807.hp2 NA18966.hp1 NA18983.hp1 NA19030.hp2 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0024 a0001c0001t0036 a0001c0001t0040 a0001c0001t0041	a0001c0001t0001g0107 a0001c0001t0004g0114 a0001c0001t0008g0004 others(15): Show a0001c0001t0001g0107 a0001c0001t0004g0114 a0001c0001t0008g0004 a0001c0001t0008g0023 a0001c0001t0008g0025 a0001c0001t0008g0028 a0001c0001t0008g0029 a0001c0001t0008g0030 a0001c0001t0011g0018 a0001c0001t0011g0019 a0001c0001t0015g0238 a0001c0001t0016g0253 a0001c0001t0016g0254 a0001c0001t0017g0032 a0001c0001t0024g0228 a0001c0001t0036g0027 a0001c0001t0040g0033 a0001c0001t0041g0031	18	256	0.0703	-21	c.-28 others(42): Show c.-286+13758_-286+13778delAAAAAAAAAAAAAAAAAAAAA		CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42_chr1_22047709_22106360	22054903	ATATATAT others(14): Show ATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0272 a0001c0001t0068g0272	1	352	0.0028	-21	c.-51 others(38): Show c.-51+2163_-51+2183delATATATATATATATATATTTT		CDC42	ENSG00000070831.18	transcript	ENST00000656825.1	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC42_chr1_22047709_22106360	22054905	ATATATAT others(14): Show ATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0137 a0001c0001t0081g0137	1	352	0.0028	-21	c.-51 others(38): Show c.-51+2165_-51+2185delATATATATATATATATTTTTT		CDC42	ENSG00000070831.18	transcript	ENST00000656825.1	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC42_chr1_22047709_22106360	22054915	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG03710.hp1 others(1): Show HG00323.hp2 HG00438.hp1 HG03710.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0014 a0001c0001t0045 others(1): Show a0001c0001t0008 a0001c0001t0014 a0001c0001t0045 a0001c0001t0050	a0001c0001t0008g0147 a0001c0001t0014g0114 a0001c0001t0045g0115 others(1): Show a0001c0001t0008g0147 a0001c0001t0014g0114 a0001c0001t0045g0115 a0001c0001t0050g0062	4	352	0.0114	-21	c.-51 others(38): Show c.-51+2175_-51+2195delATATATTTTTTTTTTTTTTTT		CDC42	ENSG00000070831.18	transcript	ENST00000656825.1	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC42_chr1_22047709_22106360	22054917	ATATATTT others(14): Show ATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01884.hp1 others(2): Show HG01069.hp1 HG01071.hp1 HG01884.hp1 HG03704.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0038 a0001c0001t0041 others(1): Show a0001c0001t0004 a0001c0001t0038 a0001c0001t0041 a0001c0001t0168	a0001c0001t0004g0183 a0001c0001t0038g0184 a0001c0001t0041g0185 others(2): Show a0001c0001t0004g0183 a0001c0001t0038g0184 a0001c0001t0041g0185 a0001c0001t0041g0186 a0001c0001t0168g0187	5	352	0.0142	-21	c.-51 others(38): Show c.-51+2177_-51+2197delATATTTTTTTTTTTTTTTTTT		CDC42	ENSG00000070831.18	transcript	ENST00000656825.1	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC42_chr1_22047709_22106360	22054919	ATATTTTT others(14): Show ATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01258.hp2 HG01358.hp2 HG01243.hp1 HG01258.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0001t0045 a0001c0002t0023 a0001c0001t0010 a0001c0001t0045 a0001c0002t0023	a0001c0001t0010g0160 a0001c0001t0045g0289 a0001c0002t0023g0285 a0001c0001t0010g0160 a0001c0001t0045g0289 a0001c0002t0023g0285	3	352	0.0085	-21	c.-51 others(38): Show c.-51+2179_-51+2199delATTTTTTTTTTTTTTTTTTTT		CDC42	ENSG00000070831.18	transcript	ENST00000656825.1	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC42_chr1_22047709_22106360	22054921	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0141 a0001c0002t0023g0141	1	352	0.0028	-21	c.-51 others(38): Show c.-51+2209_-51+2229delTTTTTTTTTTTTTTTTTTTTT		CDC42	ENSG00000070831.18	transcript	ENST00000656825.1	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC42_chr1_22047709_22106360	22061528	CTTTCTTT others(14): Show CTTTCTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03491.hp2 HG02735.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0004 a0001c0001t0015	a0001c0001t0004g0105 a0001c0001t0015g0111 a0001c0001t0004g0105 a0001c0001t0015g0111	2	352	0.0057	-21	c.-51 others(38): Show c.-51+8790_-51+8810delCTTTTTTTTTTTTTTTTTTTT		CDC42	ENSG00000070831.18	transcript	ENST00000656825.1	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC42_chr1_22047709_22106360	22070443	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01175.hp1 HG03453.hp2 others(1): Show HG00099.hp1 HG01175.hp1 HG03453.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0094 a0001c0001t0096 others(1): Show a0001c0001t0089 a0001c0001t0094 a0001c0001t0096 a0001c0001t0097	a0001c0001t0089g0282 a0001c0001t0094g0283 a0001c0001t0096g0281 others(1): Show a0001c0001t0089g0282 a0001c0001t0094g0283 a0001c0001t0096g0281 a0001c0001t0097g0279	4	352	0.0114	-21	c.-50 others(38): Show c.-50-7968_-50-7948delTTTTTTTTTTTTTTTTTTTTT		CDC42	ENSG00000070831.18	transcript	ENST00000656825.1	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC73_chr1_193117031_193259815	193162297	TATATACT others(14): Show TATATACTATATATTATATATC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03239.hp2 HG02809.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0015 a0001c0001t0012 a0001c0001t0015	a0001c0001t0012g0107 a0001c0001t0015g0109 a0001c0001t0012g0107 a0001c0001t0015g0109	2	274	0.0073	-21	c.972 others(38): Show c.972+9859_972+9879delCTATATATTATATATCATATA		CDC73	ENSG00000134371.14	transcript	ENST00000367435.5	protein_coding	10/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
CDCA7L_chr7_21895899_21950899	21901555	CAAGACTC others(14): Show CAAGACTCCATCTCAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0353 a0001c0002t0039g0353	1	432	0.0023	-21	c.74 others(30): Show c.746_*766delTTTTTTTTGAGATGGAGTCTT		CDCA7L	ENSG00000164649.20	transcript	ENST00000406877.8	protein_coding	10/10				746		chr7	TogoVar
CDH12_chr5_21745673_22858344	21811859	GTGTCACA others(14): Show GTGTCACAGTGAAATGGCATTC	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0002 a0007c0012t0002	a0007c0012t0002g0048 a0007c0012t0002g0048	1	60	0.0167	-21	c.100 others(40): Show c.1002+5065_1002+5085delGAATGCCATTTCACTGTGACA		CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	9/14						chr5	TogoVar
CDH12_chr5_21745673_22858344	22244513	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0008 a0001c0002t0004g0008	1	60	0.0167	-21	c.-33 others(42): Show c.-332-31891_-332-31871delCTTTTTTTTTTTTTTTTTTTT		CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	3/14						chr5	TogoVar
CDH12_chr5_21745673_22858344	22244516	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02572.hp1 HG03225.hp1 others(2): Show HG00558.hp2 HG02572.hp1 HG03225.hp1 HG03471.hp1 NA21309.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0002 a0002c0003 a0002c0004 others(1): Show a0001c0002 a0002c0003 a0002c0004 a0009c0007	a0001c0002t0004 a0001c0002t0025 a0002c0003t0005 others(2): Show a0001c0002t0004 a0001c0002t0025 a0002c0003t0005 a0002c0004t0004 a0009c0007t0028	a0001c0002t0004g0002 a0001c0002t0025g0019 a0002c0003t0005g0060 others(2): Show a0001c0002t0004g0002 a0001c0002t0025g0019 a0002c0003t0005g0060 a0002c0004t0004g0033 a0009c0007t0028g0059	5	60	0.0833	-21	c.-33 others(42): Show c.-332-31894_-332-31874delCTTCTTTTTTTTTTTTTTTTT		CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	3/14						chr5	TogoVar
CDH13_chr16_82621969_83805640	83202843	CATTGAGT others(14): Show CATTGAGTACACATGGACATAA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03516.hp1 HG02647.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0076 a0001c0001t0005g0106 a0001c0001t0002g0076 a0001c0001t0005g0106	2	110	0.0182	-21	c.484 others(40): Show c.484-14500_484-14480delTTGAGTACACATGGACATAAA		CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH13_chr16_82621969_83805640	83210435	TGCAATTA others(14): Show TGCAATTAGGACAGGAGATGGG	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	110	0.0091	-21	c.484 others(38): Show c.484-6909_484-6889delGCAATTAGGACAGGAGATGGG		CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	4/13						chr16	TogoVar
CDH13_chr16_82621969_83805640	83500225	TTTCTTCT others(14): Show TTTCTTCTCCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03041.hp2 HG03098.hp1 others(1): Show HG02630.hp1 HG03041.hp2 HG03098.hp1 NA19240.hp2	a0001 a0001	a0001c0006 a0001c0008 a0001c0006 a0001c0008	a0001c0006t0006 a0001c0006t0029 a0001c0006t0031 others(1): Show a0001c0006t0006 a0001c0006t0029 a0001c0006t0031 a0001c0008t0015	a0001c0006t0006g0069 a0001c0006t0029g0051 a0001c0006t0031g0005 others(1): Show a0001c0006t0006g0069 a0001c0006t0029g0051 a0001c0006t0031g0005 a0001c0008t0015g0048	4	110	0.0364	-21	c.960 others(40): Show c.960+13578_960+13598delCCTTCTTCTTCTTCTTCTTCT		CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH17_chr8_94122162_94213555	94168096	GAATATAT others(14): Show GAATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0236 a0002c0001t0001g0236	1	338	0.0030	-21	c.106 others(40): Show c.1067-2141_1067-2121delATATATATATATATATATATT		CDH17	ENSG00000079112.10	transcript	ENST00000027335.8	protein_coding	9/17						chr8	TogoVar
CDH17_chr8_94122162_94213555	94199063	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0322 a0001c0016t0001g0322	1	338	0.0030	-21	c.-20 others(38): Show c.-20-4379_-20-4359delATATATATATATATATATATA		CDH17	ENSG00000079112.10	transcript	ENST00000027335.8	protein_coding	1/17						chr8	TogoVar

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