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
CEP128_chr14_80491479_80946738	80729056	GGGGTGTG others(37): Show GGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	164	0.0061	-44	c.280 others(65): Show c.2806+13975_2806+14018delACACACACACACACACACACACAC ACACACACACACACACACCC		CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24						chr14	TogoVar
CEP72_chr5_607340_658553	650940	CTGTGAGG others(37): Show CTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGCGTGGACTG	C C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0019 a0003c0005t0002g0019	1	91	0.0110	-44	c.177 others(63): Show c.1779-2045_1779-2002delTGAGGCGTGGACTGTGAGGCGTGGAC TGTGAGGCGTGGACTGTG		CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
CERS3_chr15_100395395_100533950	100467830	TATACGTG others(37): Show TATACGTGTATATATATATATATAGATAGATAGATAGATAGATAG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00408.hp1 others(113): Show HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01261.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp2 HG02080.hp2 HG02257.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03041.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18956.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18978.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18993.hp1 NA18994.hp2 NA18998.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp2 NA19056.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19081.hp2 NA19084.hp1 NA19086.hp2 NA19088.hp2 NA19090.hp2 NA20300.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0018 a0001c0003t0002 a0001c0003t0010 a0001c0007t0002 a0004c0005t0002	a0001c0001t0001g0095 a0001c0001t0001g0129 a0001c0001t0001g0270 others(113): Show a0001c0001t0001g0095 a0001c0001t0001g0129 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0111 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0179 a0001c0001t0002g0204 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0302 a0001c0001t0004g0067 a0001c0001t0004g0290 a0001c0001t0018g0078 a0001c0001t0018g0091 a0001c0003t0002g0311 a0001c0003t0010g0340 a0001c0003t0010g0341 a0001c0003t0010g0342 a0001c0003t0010g0343 a0001c0003t0010g0344 a0001c0007t0002g0287 a0001c0007t0002g0295 a0004c0005t0002g0254 a0004c0005t0002g0262 a0004c0005t0002g0293	116	362	0.3204	-44	c.845 others(61): Show c.845+1504_845+1547delCTATCTATCTATCTATCTATCTATATAT ATATATATACACGTAT		CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11						chr15	TogoVar
CFAP141_chr1_154194085_154211333	154203172	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19240.hp2 HG02145.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0124 a0001c0001t0001g0054 a0001c0001t0001g0124	2	372	0.0054	-44	c.74+ others(59): Show c.74+2382_74+2425delATATATATATATATATATATATATATATAT ATATATATATATAT		CFAP141	ENSG00000163263.7	transcript	ENST00000368525.4	protein_coding	2/3						chr1	TogoVar
CFAP410_chr21_44323944_44344390	44338897	TCCGGCTC others(37): Show TCCGGCTCCGCCCTCTCCCCGCCCCGGCTCCGCCCTCTCCCCGCC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02145.hp1 HG02896.hp1 others(10): Show HG01167.hp1 HG02145.hp1 HG02896.hp1 NA18522.hp1 NA18906.hp1 NA18955.hp2 NA18960.hp1 NA18968.hp1 NA19011.hp1 NA19030.hp1 NA19057.hp1 NA19079.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0005 a0004c0006 a0001c0002 a0001c0005 a0004c0006	a0001c0002t0002 a0001c0005t0003 a0004c0006t0003 a0001c0002t0002 a0001c0005t0003 a0004c0006t0003	a0001c0002t0002g0234 a0001c0005t0003g0014 a0001c0005t0003g0037 others(4): Show a0001c0002t0002g0234 a0001c0005t0003g0014 a0001c0005t0003g0037 a0001c0005t0003g0038 a0001c0005t0003g0233 a0001c0005t0003g0235 a0004c0006t0003g0040	13	436	0.0298	-44	c.77+ others(57): Show c.77+177_77+220delGGCGGGGAGAGGGCGGAGCCGGGGCGGGGAGA GGGCGGAGCCGG		CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	1/6						chr21	TogoVar
CFAP54_chr12_96484577_96880555	96664733	ATATATCT others(37): Show ATATATCTATATATATATATATCTATATATATCTATATCTATATC	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0004 a0004	a0004c0082 a0004c0082	a0004c0082t0001 a0004c0082t0001	a0004c0082t0001g0167 a0004c0082t0001g0167	1	268	0.0037	-44	c.556 others(61): Show c.5563+807_5563+850delCTATATATATATATATCTATATATATCT ATATCTATATCTATAT		CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	39/67					INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP58_chr10_104348833_104460102	104396396	GAGAGAGA others(37): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02109.hp1 HG02572.hp2 others(3): Show HG00323.hp1 HG02109.hp1 HG02572.hp2 HG02717.hp1 HG03209.hp1 HG03540.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0018 a0001c0001 a0011c0018	a0001c0001t0001 a0011c0018t0001 a0001c0001t0001 a0011c0018t0001	a0001c0001t0001g0003 a0001c0001t0001g0257 a0001c0001t0001g0258 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0011c0018t0001g0288	6	308	0.0195	-44	c.167 others(63): Show c.1674+2935_1675-2907delGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAAAGAGAGAGAGAGA		CFAP58	ENSG00000120051.15	transcript	ENST00000369704.8	protein_coding	11/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP70_chr10_73248762_73363864	73284737	CACATATA others(37): Show CACATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0040 a0002c0002t0001g0040	1	220	0.0046	-44	c.245 others(63): Show c.2450-6444_2450-6401delATATATATATATATATATATATATAT ATATATATATATATATGT		CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	20/27						chr10	TogoVar
CFAP70_chr10_73248762_73363864	73284739	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03654.hp2 HG02818.hp1 HG03654.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0007 a0001c0001 a0012c0007	a0001c0001t0001 a0012c0007t0002 a0001c0001t0001 a0012c0007t0002	a0001c0001t0001g0159 a0012c0007t0002g0015 a0001c0001t0001g0159 a0012c0007t0002g0015	2	220	0.0091	-44	c.244 others(63): Show c.2449+6443_2450-6403delATATATATATATATATATATATATAT ATATATATATATATATAT		CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	20/27						chr10	TogoVar
CFI_chr4_109735695_109806999	109756888	GGAAAGAA others(37): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA19087.hp2 NA18970.hp1 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0130 a0001c0002t0001g0052 a0001c0002t0001g0130	2	354	0.0057	-44	c.904 others(59): Show c.904+831_904+874delTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTC		CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12						chr4	TogoVar
CHCHD6_chr3_126699240_126965420	126862175	CCTCCTCC others(37): Show CCTCCTCCTCCACCATCACAACCGCCTCCTCCACCATCATCACCA	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0172 a0001c0001t0003g0172	1	216	0.0046	-44	c.495 others(61): Show c.495+9447_495+9490delTCCTCCTCCACCATCACAACCGCCTCCT CCACCATCATCACCAC		CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD7_chr8_56206789_56223809	56220908	GTTATCTG others(37): Show GTTATCTGCTCTGGATTACAGCCATCCTAGTGGGTGTGAACTGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	384	0.0026	-44	c.34 others(55): Show c.3474_*3517delTTATCTGCTCTGGATTACAGCCATCCTAGTGGGT GTGAACTGGT		CHCHD7	ENSG00000170791.18	transcript	ENST00000355315.8	protein_coding					2100		chr8	TogoVar
CHD6_chr20_41397083_41623377	41421603	TCACATCA others(37): Show TCACATCAGGCAGGCTGAGATGATCATCTCTGCTTTCTACTCTCA	T T	frameshift_variant frameshift_variant	HIGH	NA19086.hp1 NA19086.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0007 a0009c0015t0007	a0009c0015t0007g0307 a0009c0015t0007g0307	1	324	0.0031	-44	c.498 others(53): Show c.4988_5031delTGAGAGTAGAAAGCAGAGATGATCATCTCAGCCTGC CTGATGTG	p.Val others(6): Show p.Val1663fs	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	31/37	5092/10719	4988/8148	1663/2715			chr20	TogoVar
CHMP1A_chr16_89639435_89662708	89655962	GCCCGGCC others(37): Show GCCCGGCCTCCCAGAGTGCTGGGGTTACAGGCCTGAGCCACCACA	G G	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA19090.hp1 NA18990.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0137 a0001c0001t0001g0138	2	392	0.0051	-44	c.7+1 others(57): Show c.7+1576_7+1619delTGTGGTGGCTCAGGCCTGTAACCCCAGCACTC TGGGAGGCCGGG		CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	1/6						chr16	TogoVar
CHST8_chr19_33616953_33778506	33757387	GAAGAAAG others(37): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	254	0.0039	-44	c.131 others(63): Show c.131-13933_131-13890delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGA		CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757490	GAAAGAAA others(37): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	254	0.0039	-44	c.131 others(63): Show c.131-13921_131-13878delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAGAAAGAAAGAAA		CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757498	GAAAGAAA others(37): Show GAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	254	0.0039	-44	c.131 others(63): Show c.131-13913_131-13870delAAGAAAGAAAGAAAGAAAGAAAGAGA AAGAAAGAAAGAAAGAAA		CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
CHSY3_chr5_129899465_130191634	130143726	GTGTGTGT others(37): Show GTGTGTGTGTATATATATATATATATATATATGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG04199.hp2 NA18991.hp1 others(1): Show HG01496.hp2 HG04199.hp2 NA18991.hp1 NA19064.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0001 a0001c0002t0014 a0003c0004t0004 a0001c0002t0001 a0001c0002t0014 a0003c0004t0004	a0001c0002t0001g0045 a0001c0002t0014g0021 a0003c0004t0004g0030 others(1): Show a0001c0002t0001g0045 a0001c0002t0014g0021 a0003c0004t0004g0030 a0003c0004t0004g0173	4	276	0.0145	-44	c.108 others(65): Show c.1087-40501_1087-40458delGTGTGTGTATATATATATATATAT ATATATGTGTGTGTGTGTAT		CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr5	TogoVar
CIRBP_chr19_1264332_1279810	1277293	TGAGATGG others(37): Show TGAGATGGTGTGCACCCTTCCCCAGCTCTGGGGCCTCGGTGGGCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	280	0.0036	-44	c.48 others(55): Show c.4851_*4894delGAGATGGTGTGCACCCTTCCCCAGCTCTGGGGCC TCGGTGGGCA		CIRBP	ENSG00000099622.14	transcript	ENST00000587896.6	protein_coding					2484		chr19	TogoVar
CLCN2_chr3_184341185_184366605	184361866	GGCCGGCC others(37): Show GGCCGGCCCGGGTTCGCGGTTCCCCGTGCCCAGGCAGGAGGGGCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	460	0.0022	-44	c.-43 others(53): Show c.-431_-388delAGCCCCTCCTGCCTGGGCACGGGGAACCGCGAACCC GGGCCGGC		CLCN2	ENSG00000114859.16	transcript	ENST00000265593.9	protein_coding					262		chr3	TogoVar
CLDN34_chrX_9962358_9973352	9964279	CCCTTCCT others(37): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01106.hp1 HG02055.hp1 others(7): Show HG01074.hp1 HG01106.hp1 HG02055.hp1 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG03139.hp1 NA19043.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0001 a0002c0004t0002 a0001c0003t0001 a0002c0004t0002	a0001c0003t0001g0000 a0002c0004t0002g0000 a0001c0003t0001g0000 a0002c0004t0002g0000	10	330	0.0303	-44	c.-30 others(55): Show c.-3078_-3035delCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTT		CLDN34	ENSG00000234469.4	transcript	ENST00000445307.4	protein_coding					3078		chrX	TogoVar
CLIC5_chr6_45893456_46020860	46006093	CATATATA others(37): Show CATATATATATATATATATACACATGTATAAATACATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03041.hp1 HG03139.hp2 others(2): Show HG02809.hp1 HG03041.hp1 HG03139.hp2 HG03453.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0023 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0023 a0001c0001t0030	a0001c0001t0001g0071 a0001c0001t0001g0326 a0001c0001t0003g0044 others(2): Show a0001c0001t0001g0071 a0001c0001t0001g0326 a0001c0001t0003g0044 a0001c0001t0023g0028 a0001c0001t0030g0029	5	340	0.0147	-44	c.63+ others(59): Show c.63+9343_63+9386delATATATATATGTATTTATACATGTGTATAT ATATATATATATAT		CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5						chr6	TogoVar
CLMN_chr14_95176940_95324908	95245194	AATATATA others(37): Show AATATATATATATATTATATATATATATATATTATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18906.hp1 NA19030.hp1 HG02886.hp1 NA18906.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0040 a0001c0001t0001 a0001c0001t0005 a0001c0001t0040	a0001c0001t0001g0155 a0001c0001t0005g0170 a0001c0001t0040g0055 a0001c0001t0001g0155 a0001c0001t0005g0170 a0001c0001t0040g0055	3	276	0.0109	-44	c.83- others(61): Show c.83-15105_83-15062delATATATATATATAATATATATATATATA TAATATATATATATAT		CLMN	ENSG00000165959.12	transcript	ENST00000298912.9	protein_coding	1/12						chr14	TogoVar
CLN8_chr8_1758789_1791570	1763554	CCCGCCCC others(37): Show CCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0175 a0001c0001t0048g0175	1	413	0.0024	-44	c.-45 others(53): Show c.-454_-411delCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCC GCCCCCCG		CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding					234		chr8	TogoVar
CLN8_chr8_1758789_1791570	1763559	CCCCCGCC others(37): Show CCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0054 a0001c0001t0014g0161 a0001c0001t0014g0054 a0001c0001t0014g0161	2	413	0.0048	-44	c.-44 others(53): Show c.-449_-406delCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCC CCGCCGCG		CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding					229		chr8	TogoVar
CLPB_chr11_72280495_72439531	72297636	GGTGTGTG others(37): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02809.hp1 HG03139.hp1 HG02055.hp1 HG02809.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034	a0001c0001t0032g0020 a0001c0001t0033g0021 a0001c0001t0034g0022 a0001c0001t0032g0020 a0001c0001t0033g0021 a0001c0001t0034g0022	3	206	0.0146	-44	c.142 others(63): Show c.1420-2032_1420-1989delACACACACACACACACACACACACAC ACACACACACACACACAC		CLPB	ENSG00000162129.15	transcript	ENST00000294053.9	protein_coding	12/16						chr11	TogoVar
CMKLR2_chr2_206170316_206218371	206172629	CGGGAGAG others(37): Show CGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01099.hp1 others(23): Show HG00738.hp1 HG00741.hp1 HG01099.hp1 HG01123.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG01943.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02055.hp2 HG02148.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG03225.hp1 HG03927.hp1 HG04228.hp2 NA21309.hp2	a0002 a0008 a0002 a0008	a0002c0003 a0008c0010 a0002c0003 a0008c0010	a0002c0003t0003 a0008c0010t0003 a0002c0003t0003 a0008c0010t0003	a0002c0003t0003g0001 a0002c0003t0003g0010 a0002c0003t0003g0034 others(20): Show a0002c0003t0003g0001 a0002c0003t0003g0010 a0002c0003t0003g0034 a0002c0003t0003g0035 a0002c0003t0003g0153 a0002c0003t0003g0232 a0002c0003t0003g0236 a0002c0003t0003g0237 a0002c0003t0003g0238 a0002c0003t0003g0239 a0002c0003t0003g0240 a0002c0003t0003g0241 a0002c0003t0003g0242 a0002c0003t0003g0244 a0002c0003t0003g0245 a0002c0003t0003g0246 a0002c0003t0003g0247 a0002c0003t0003g0249 a0002c0003t0003g0250 a0002c0003t0003g0275 a0002c0003t0003g0276 a0002c0003t0003g0302 a0008c0010t0003g0243	26	322	0.0808	-44	c.35 others(55): Show c.3507_*3550delTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTC TCCCTCTCCC		CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding					2686		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206172754	AGGGAGAC others(37): Show AGGGAGACGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01981.hp1 HG04184.hp2 others(2): Show HG01106.hp2 HG01981.hp1 HG04184.hp2 NA19009.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0004t0001 a0002c0002t0001 a0002c0004t0001	a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0230 others(2): Show a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0230 a0002c0004t0001g0115 a0002c0004t0001g0147	5	322	0.0155	-44	c.33 others(55): Show c.3382_*3425delGTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCGTCTCCC		CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding					2561		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206172767	AGGGAGAG others(37): Show AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0137 a0002c0002t0001g0137	1	322	0.0031	-44	c.33 others(55): Show c.3369_*3412delCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCTC TCCCTCTCCC		CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding					2548		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206172923	AGGGAGAG others(37): Show AGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGAGGGAGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	322	0.0031	-44	c.32 others(55): Show c.3213_*3256delGTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTC TCCCTCTCCC		CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding					2392		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206173088	CGGGAGAG others(37): Show CGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0035 a0002c0003t0003g0035	1	322	0.0031	-44	c.30 others(55): Show c.3048_*3091delTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTC TCCCTCTCCC		CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding					2227		chr2	TogoVar
CMSS1_chr3_99812862_100186732	99983432	GTATATAT others(37): Show GTATATATATGTATGTATATATATATATGTGTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0029 a0001c0001t0007g0029	1	232	0.0043	-44	c.65- others(63): Show c.65-163531_65-163488delGTATGTATATATATATATGTGTGTAT ATATATATATATATATAT		CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	99983446	GTATATAT others(37): Show GTATATATATATATGTGTGTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01168.hp1 HG01168.hp2 others(45): Show HG01069.hp1 HG01168.hp1 HG01168.hp2 HG01257.hp2 HG01346.hp1 HG01516.hp1 HG01891.hp1 HG01928.hp1 HG01952.hp2 HG01975.hp2 HG02055.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp2 HG02922.hp2 HG02976.hp2 HG03225.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03942.hp2 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18943.hp1 NA18954.hp2 NA18959.hp2 NA18961.hp2 NA19056.hp2 NA19066.hp1 NA19066.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012	a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0021 others(45): Show a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0070 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0002g0013 a0001c0001t0002g0085 a0001c0001t0004g0011 a0001c0001t0004g0014 a0001c0001t0004g0019 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0030 a0001c0001t0005g0177 a0001c0001t0005g0178 a0001c0001t0007g0032 a0001c0001t0007g0033 a0001c0001t0011g0169 a0001c0001t0012g0036	48	232	0.2069	-44	c.65- others(63): Show c.65-163513_65-163470delGTGTGTATATATATATATATATATAT ATATATATATATATATAT		CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CNBP_chr3_129162827_129188896	129172632	GCAGGCAG others(37): Show GCAGGCAGGCAGGCAGGCAGGCAGGCAGACAGACAGACAGACAGA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0345 a0001c0002t0005g0345	1	430	0.0023	-44	c.-14 others(59): Show c.-14-905_-14-862delTCTGTCTGTCTGTCTGTCTGCCTGCCTGCC TGCCTGCCTGCCTG		CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4						chr3	TogoVar
CNOT6_chr5_180489379_180583358	180539551	CTTTTTTT others(37): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp1 HG01358.hp1 others(1): Show HG00099.hp1 HG00738.hp1 HG01358.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0004 a0001c0001t0018g0005 a0001c0001t0018g0006 others(1): Show a0001c0001t0018g0004 a0001c0001t0018g0005 a0001c0001t0018g0006 a0001c0001t0018g0007	4	334	0.0120	-44	c.112 others(63): Show c.112+10176_112+10219delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT		CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
CNTN5_chr11_99015949_100363885	99598285	TTTTCTTT others(37): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTGTCC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0013 a0004c0004t0013	a0004c0004t0013g0050 a0004c0004t0013g0050	1	66	0.0152	-44	c.55+ others(61): Show c.55+42017_55+42060delTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTGTCC		CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	3/24						chr11	TogoVar
CNTNAP2_chr7_146111801_148425998	146248055	ATCGGGGC others(37): Show ATCGGGGCACAGAGATATAAGAGGCTGGGGCATGGAAATAAGGGG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03098.hp1 HG02976.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0015t0001 a0001c0001t0001 a0001c0015t0001	a0001c0001t0001g0003 a0001c0015t0001g0011 a0001c0001t0001g0003 a0001c0015t0001g0011	2	40	0.0500	-44	c.97+ others(63): Show c.97+131114_97+131157delTGGAAATAAGGGGTCGGGGCACAGAG ATATAAGAGGCTGGGGCA		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147225890	GGAAGGAA others(37): Show GGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAAGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA19030.hp2 HG02486.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0016 a0001c0001 a0002c0016	a0001c0001t0007 a0002c0016t0004 a0001c0001t0007 a0002c0016t0004	a0001c0001t0007g0020 a0002c0016t0004g0024 a0001c0001t0007g0020 a0002c0016t0004g0024	2	40	0.0500	-44	c.134 others(65): Show c.1349-74239_1349-74196delGGAAAGAAGGAAGGAAGGAAAGAA GGAAGGAAAGAAGGAAGGAA		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	8/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147775320	TATTTATA others(37): Show TATTTATATATATTTATAAATATATATATTTATATATATTTATAA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02922.hp2 HG03540.hp1 HG02717.hp2 HG02922.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 a0001c0002 a0001c0004 a0001c0005	a0001c0002t0010 a0001c0004t0005 a0001c0005t0008 a0001c0002t0010 a0001c0004t0005 a0001c0005t0008	a0001c0002t0010g0002 a0001c0004t0005g0004 a0001c0005t0008g0005 a0001c0002t0010g0002 a0001c0004t0005g0004 a0001c0005t0008g0005	3	40	0.0750	-44	c.209 others(67): Show c.2099-128242_2099-128199delTTATATATATTTATAAATATAT ATATTTATATATATTTATAAAT		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	13/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148365755	TATGTGTA others(37): Show TATGTGTATACGTGTATACATGTATGTGTATGCATGTATACATGC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp1 HG02897.hp1 others(2): Show HG02451.hp1 HG02486.hp1 HG02897.hp1 NA19030.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0010t0002	a0001c0001t0001g0038 a0001c0001t0007g0020 a0001c0002t0001g0007 others(2): Show a0001c0001t0001g0038 a0001c0001t0007g0020 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0010t0002g0014	5	40	0.1250	-44	c.347 others(65): Show c.3476-17885_3476-17842delACGTGTATACATGTATGTGTATGC ATGTATACATGCATGTGTAT		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148365777	TATGTGTA others(37): Show TATGTGTATGCATGTATACATGCATGTGTATGCATGTATACATGC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0021 a0004c0014t0021	a0004c0014t0021g0022 a0004c0014t0021g0022	1	40	0.0250	-44	c.347 others(65): Show c.3476-17828_3476-17785delCATGTGTATGCATGTATACATGCA TGTGTATGCATGTATACATG		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148365984	ACATGTGT others(37): Show ACATGTGTGTATGCATGTATGCATGTGTGTATGCATGTATGCATG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0029 a0001c0003t0004g0029	1	40	0.0250	-44	c.347 others(65): Show c.3476-17664_3476-17621delCATGTGTGTATGCATGTATGCATG TGTGTATGCATGTATGCATG		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23						chr7	TogoVar
CNTNAP4_chr16_76272401_76565757	76397938	TTATATAC others(37): Show TTATATACATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03486.hp2 NA21309.hp1 HG02559.hp1 HG03486.hp2 NA21309.hp1	a0009 a0025 a0009 a0025	a0009c0038 a0009c0044 a0025c0039 a0009c0038 a0009c0044 a0025c0039	a0009c0038t0005 a0009c0044t0006 a0025c0039t0001 a0009c0038t0005 a0009c0044t0006 a0025c0039t0001	a0009c0038t0005g0261 a0009c0044t0006g0247 a0025c0039t0001g0168 a0009c0038t0005g0261 a0009c0044t0006g0247 a0025c0039t0001g0168	3	274	0.0110	-44	c.391 others(63): Show c.391-29507_391-29464delCATATATATATATATATATATATATA TATATATATATATATATA		CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	3/23					INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76522686	CCTTTCTT others(37): Show CCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01928.hp2 HG02015.hp1 others(13): Show HG00738.hp1 HG01928.hp2 HG02015.hp1 HG02145.hp2 HG02155.hp2 HG02723.hp2 HG03239.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 NA18991.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0010 a0015 a0022	a0001c0001 a0002c0002 a0002c0011 others(6): Show a0001c0001 a0002c0002 a0002c0011 a0002c0012 a0004c0010 a0004c0027 a0010c0016 a0015c0034 a0022c0025	a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 others(8): Show a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0011t0002 a0002c0012t0008 a0004c0010t0002 a0004c0027t0002 a0010c0016t0002 a0015c0034t0006 a0022c0025t0002	a0001c0001t0004g0051 a0002c0002t0001g0125 a0002c0002t0002g0039 others(13): Show a0001c0001t0004g0051 a0002c0002t0001g0125 a0002c0002t0002g0039 a0002c0002t0002g0042 a0002c0002t0002g0059 a0002c0002t0002g0136 a0002c0002t0002g0212 a0002c0002t0004g0146 a0002c0002t0004g0207 a0002c0011t0002g0216 a0002c0012t0008g0090 a0004c0010t0002g0143 a0004c0027t0002g0234 a0010c0016t0002g0190 a0015c0034t0006g0209 a0022c0025t0002g0110	16	274	0.0584	-44	c.275 others(61): Show c.2755+434_2755+477delCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTT		CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	17/23					INFO_REALIGN_3_PRIME	chr16	TogoVar
COL18A1_chr21_45400165_45518720	45437888	GCACACAC others(37): Show GCACACACACACTCACTCAGACACAGGCACTCTCCTGCACACACA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0011 a0011	a0011c0104 a0011c0104	a0011c0104t0002 a0011c0104t0002	a0011c0104t0002g0003 a0011c0104t0002g0003	1	292	0.0034	-44	c.107 others(63): Show c.107-30344_107-30301delACTCACTCAGACACAGGCACTCTCCT GCACACACACACACACAC		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45437898	ACTCACTC others(37): Show ACTCACTCAGACACAGGCACTCTCCTGCACACACACACACACACT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02809.hp1 HG02809.hp2 others(1): Show HG02257.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1	a0001 a0013 a0036 others(1): Show a0001 a0013 a0036 a0037	a0001c0002 a0013c0051 a0036c0048 others(1): Show a0001c0002 a0013c0051 a0036c0048 a0037c0049	a0001c0002t0012 a0013c0051t0001 a0036c0048t0004 others(1): Show a0001c0002t0012 a0013c0051t0001 a0036c0048t0004 a0037c0049t0004	a0001c0002t0012g0109 a0013c0051t0001g0195 a0036c0048t0004g0184 others(1): Show a0001c0002t0012g0109 a0013c0051t0001g0195 a0036c0048t0004g0184 a0037c0049t0004g0183	4	292	0.0137	-44	c.107 others(63): Show c.107-30342_107-30299delTCACTCAGACACAGGCACTCTCCTGC ACACACACACACACACTC		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45489868	CCCCCACA others(37): Show CCCCCACACCTCCTCCCCGACTTCCCCCTCCCCCACTTCCACCTG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02922.hp1 HG02451.hp2 HG02922.hp1	a0001 a0004 a0001 a0004	a0001c0098 a0004c0099 a0001c0098 a0004c0099	a0001c0098t0001 a0004c0099t0003 a0001c0098t0001 a0004c0099t0003	a0001c0098t0001g0007 a0004c0099t0003g0030 a0001c0098t0001g0007 a0004c0099t0003g0030	2	292	0.0069	-44	c.196 others(61): Show c.1960-367_1960-324delACCTGCCCCACACCTCCTCCCCGACTTC CCCCTCCCCCACTTCC		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	19/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45489908	ACCTGCCC others(37): Show ACCTGCCCCACACCTCCTCCCCGACTTCCCCCTCCCCCACTTCCC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp1 HG02723.hp2 others(3): Show HG01243.hp1 HG02258.hp1 HG02723.hp2 HG02818.hp2 HG03209.hp1 HG06807.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0027 a0001c0054 others(2): Show a0001c0001 a0001c0027 a0001c0054 a0001c0063 a0005c0060	a0001c0001t0001 a0001c0027t0001 a0001c0054t0002 others(2): Show a0001c0001t0001 a0001c0027t0001 a0001c0054t0002 a0001c0063t0001 a0005c0060t0001	a0001c0001t0001g0191 a0001c0027t0001g0019 a0001c0027t0001g0020 others(3): Show a0001c0001t0001g0191 a0001c0027t0001g0019 a0001c0027t0001g0020 a0001c0054t0002g0201 a0001c0063t0001g0144 a0005c0060t0001g0063	6	292	0.0206	-44	c.196 others(61): Show c.1960-345_1960-302delGACTTCCCCCTCCCCCACTTCCCCCTGC CCCACACCTCCTCCCC		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	19/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501915	ACAGCCGG others(37): Show ACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCG	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0006 a0006	a0006c0026 a0006c0026	a0006c0026t0001 a0006c0026t0001	a0006c0026t0001g0083 a0006c0026t0001g0083	1	292	0.0034	-44	c.268 others(63): Show c.2684-2056_2684-2013delCTCCGCAGCCGGTCACCTCCCTCTGC AGAAGGACCCTCAGGGGC		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45502002	ACAGCCGG others(37): Show ACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp1 HG01255.hp2 others(4): Show HG00323.hp2 HG00735.hp1 HG01255.hp2 HG01515.hp2 HG01517.hp2 HG02698.hp2 HG03831.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0090 others(1): Show a0001c0001 a0001c0002 a0001c0090 a0002c0084	a0001c0001t0001 a0001c0002t0002 a0001c0090t0002 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0090t0002 a0002c0084t0002	a0001c0001t0001g0203 a0001c0002t0002g0088 a0001c0002t0002g0107 others(4): Show a0001c0001t0001g0203 a0001c0002t0002g0088 a0001c0002t0002g0107 a0001c0002t0002g0114 a0001c0002t0002g0117 a0001c0090t0002g0089 a0002c0084t0002g0212	7	292	0.0240	-44	c.268 others(63): Show c.2684-1987_2684-1944delAGAAGGACCCTCAGGGGCCTCCGCAG CCGGTCACCTCCCTCTGC		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41					INFO_REALIGN_3_PRIME	chr21	TogoVar

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