Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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	status	chr	external
CAPN15_chr16_522712_559636	531688	CCCCAGGG others(47): Show CCCCAGGGCCACACGGCTCCCAAGGCCTCCGTCTCCTTCTCTGGGATGAC AGGTG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0020 a0001c0005t0010g0020	1	410	0.0024	-54	c.-18 others(73): Show c.-189-2231_-189-2178delTCCGTCTCCTTCTCTGGGATGACAGG TGCCCAGGGCCACACGGCTCCCAAGGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPZA2_chr7_116857587_116927049	116890547	TATATATA others(47): Show TATATATATATATATATATATACACATATATATATATATATATATATATA TACAC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03130.hp1 HG02723.hp2 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0093 a0001c0002t0005g0099 a0001c0002t0005g0093 a0001c0002t0005g0099	2	354	0.0057	-54	c.103 others(71): Show c.103+2359_104-2392delTATATATATATATATATATACACATATA TATATATATATATATATATATACACA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116890557	TATATATA others(47): Show TATATATATATACACATATATATATATATATATATATATATACACACACA CACAC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01891.hp1 HG02451.hp1 others(10): Show HG01496.hp1 HG01891.hp1 HG02451.hp1 HG02572.hp1 HG02717.hp2 HG03041.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03669.hp1 HG06807.hp2 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0016 a0001c0002t0003 a0001c0002t0004 a0001c0002t0016	a0001c0002t0003g0293 a0001c0002t0003g0294 a0001c0002t0003g0295 others(10): Show a0001c0002t0003g0293 a0001c0002t0003g0294 a0001c0002t0003g0295 a0001c0002t0003g0333 a0001c0002t0003g0336 a0001c0002t0003g0337 a0001c0002t0003g0338 a0001c0002t0003g0339 a0001c0002t0003g0340 a0001c0002t0003g0341 a0001c0002t0004g0305 a0001c0002t0016g0331 a0001c0002t0016g0332	13	354	0.0367	-54	c.103 others(71): Show c.103+2369_104-2382delTATATATATACACATATATATATATATA TATATATATATACACACACACACACA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116555504	GAAAGAAA others(47): Show GAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGA AAGAA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0261 a0001c0002t0009g0261	1	342	0.0029	-54	c.196 others(71): Show c.196-3440_196-3387delAAGAAAGAAAGAAAGAGAGAGAGAGAGA GAGAGAGAGAGAAAGAAAGAAAGAAA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116555508	GAAAGAAA others(47): Show GAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGA AAGAA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0302 a0001c0001t0005g0302	1	342	0.0029	-54	c.196 others(71): Show c.196-3436_196-3383delAAGAAAGAAAGAGAGAGAGAGAGAGAGA GAGAGAGAAAGAAAGAAAGAAAGAAA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CBFA2T3_chr16_88869858_88982207	88967162	ACCCCCCA others(47): Show ACCCCCCAGCCCCCGAGGTGCCACTCGGCCCCGACACGAGGCAGCGCCAT GCCAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01069.hp2 HG01071.hp2 others(28): Show HG00140.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01167.hp2 HG01346.hp2 HG01433.hp2 HG01884.hp2 HG01891.hp1 HG02109.hp2 HG02132.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02717.hp2 HG02922.hp1 HG03239.hp2 HG03540.hp1 HG03654.hp2 HG03704.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18945.hp1 NA18966.hp1 NA19043.hp1 NA19057.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0007c0014	a0001c0001t0001 a0001c0001t0006 a0001c0001t0025 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0025 a0001c0001t0027 a0001c0001t0034 a0001c0002t0005 a0001c0009t0015 a0007c0014t0001	a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0022 others(28): Show a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0038 a0001c0001t0001g0053 a0001c0001t0001g0082 a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0154 a0001c0001t0001g0175 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0202 a0001c0001t0001g0231 a0001c0001t0001g0248 a0001c0001t0001g0257 a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0025g0099 a0001c0001t0027g0156 a0001c0001t0034g0283 a0001c0002t0005g0005 a0001c0009t0015g0083 a0007c0014t0001g0247	31	284	0.1092	-54	c.151 others(71): Show c.151+9441_151+9494delGTGGCATGGCGCTGCCTCGTGTCGGGGC CGAGTGGCACCTCGGGGGCTGGGGGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88967207	GCCATGCC others(47): Show GCCATGCCACCCCCCCAGCCCCCGAGGTGCCACTCGGCCCCGACACGAGG CAGCA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	284	0.0035	-54	c.151 others(71): Show c.151+9396_151+9449delTGCTGCCTCGTGTCGGGGCCGAGTGGCA CCTCGGGGGCTGGGGGGGTGGCATGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CC2D2B_chr10_95902975_96038745	95993920	GTGTGTGT others(47): Show GTGTGTGTGTGTGTGTGTGTGTGTATGTATGTGTATATATATATATATAT ATATA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	312	0.0032	-54	c.264 others(73): Show c.2642+1225_2642+1278delGTGTGTGTGTGTGTGTGTGTGTATGT ATGTGTATATATATATATATATATATAT	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	22/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
CC2D2B_chr10_95902975_96038745	95993924	GTGTGTGT others(47): Show GTGTGTGTGTGTGTGTGTGTATGTATGTGTATATATATATATATATATAT ATATA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0015 a0015	a0015c0013 a0015c0013	a0015c0013t0003 a0015c0013t0003	a0015c0013t0003g0143 a0015c0013t0003g0143	1	312	0.0032	-54	c.264 others(73): Show c.2642+1229_2642+1282delGTGTGTGTGTGTGTGTGTATGTATGT GTATATATATATATATATATATATATAT	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	22/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC138_chr2_108781771_108881578	108853976	AATATATA others(47): Show AATATATAATATATAATAAATTTATATTATATATAATATATAATAAATTT ATATT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0108 a0001c0004t0001g0108	1	220	0.0046	-54	c.151 others(73): Show c.1517-2783_1517-2730delATATATAATAAATTTATATTATATAT AATATATAATAAATTTATATTATATATA	CCDC138	ENSG00000163006.12	transcript	ENST00000295124.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC146_chr7_77117615_77300204	77180085	ATACCATA others(47): Show ATACCATATATATGCACCCATATGTATGTACCATATATATGCACCCATAT GTATG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp2 HG01123.hp2 others(41): Show HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG02109.hp2 HG02145.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02723.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03834.hp1 NA19007.hp2 NA19043.hp1 NA19076.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0008	a0001c0001 a0001c0004 a0001c0007 others(10): Show a0001c0001 a0001c0004 a0001c0007 a0001c0008 a0001c0015 a0003c0003 a0003c0010 a0003c0011 a0003c0026 a0004c0018 a0005c0012 a0005c0013 a0008c0020	a0001c0001t0002 a0001c0004t0003 a0001c0007t0001 others(11): Show a0001c0001t0002 a0001c0004t0003 a0001c0007t0001 a0001c0008t0002 a0001c0015t0001 a0003c0003t0001 a0003c0003t0002 a0003c0010t0001 a0003c0011t0001 a0003c0026t0001 a0004c0018t0001 a0005c0012t0001 a0005c0013t0001 a0008c0020t0001	a0001c0001t0002g0028 a0001c0001t0002g0033 a0001c0004t0003g0017 others(41): Show a0001c0001t0002g0028 a0001c0001t0002g0033 a0001c0004t0003g0017 a0001c0004t0003g0018 a0001c0004t0003g0019 a0001c0004t0003g0020 a0001c0004t0003g0021 a0001c0004t0003g0022 a0001c0004t0003g0023 a0001c0004t0003g0024 a0001c0004t0003g0025 a0001c0004t0003g0027 a0001c0007t0001g0026 a0001c0007t0001g0155 a0001c0007t0001g0164 a0001c0007t0001g0173 a0001c0008t0002g0046 a0001c0015t0001g0205 a0003c0003t0001g0072 a0003c0003t0001g0228 a0003c0003t0001g0229 a0003c0003t0001g0233 a0003c0003t0002g0002 a0003c0003t0002g0005 a0003c0003t0002g0006 a0003c0003t0002g0007 a0003c0003t0002g0008 a0003c0003t0002g0011 a0003c0003t0002g0131 a0003c0010t0001g0010 a0003c0010t0001g0044 a0003c0010t0001g0073 a0003c0010t0001g0234 a0003c0011t0001g0004 a0003c0011t0001g0055 a0003c0011t0001g0056 a0003c0011t0001g0138 a0003c0026t0001g0009 a0004c0018t0001g0212 a0005c0012t0001g0211 a0005c0012t0001g0219 a0005c0013t0001g0222 a0008c0020t0001g0084 a0008c0020t0001g0085	44	248	0.1774	-54	c.156 others(73): Show c.156+12387_156+12440delCATATGTATGTACCATATATATGCAC CCATATGTATGTACCATATATATGCACC	CCDC146	ENSG00000135205.15	transcript	ENST00000285871.5	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC146_chr7_77117615_77300204	77241020	TGAGATGG others(47): Show TGAGATGGAGTCTCACTCTGTCGCCCAGGCGGGAGTGCAGTGGCTCAATC TCGGC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01192.hp2 HG01243.hp1 others(9): Show HG01109.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG02717.hp2 HG02809.hp2 HG02976.hp1 HG03130.hp1 HG03195.hp2 HG03579.hp1 HG03579.hp2 NA19043.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0013	a0001c0007 a0001c0015 a0003c0003 others(4): Show a0001c0007 a0001c0015 a0003c0003 a0003c0010 a0003c0011 a0004c0023 a0013c0028	a0001c0007t0001 a0001c0015t0001 a0001c0015t0002 others(5): Show a0001c0007t0001 a0001c0015t0001 a0001c0015t0002 a0003c0003t0001 a0003c0010t0001 a0003c0011t0001 a0004c0023t0001 a0013c0028t0002	a0001c0007t0001g0155 a0001c0007t0001g0164 a0001c0015t0001g0041 others(9): Show a0001c0007t0001g0155 a0001c0007t0001g0164 a0001c0015t0001g0041 a0001c0015t0001g0079 a0001c0015t0001g0205 a0001c0015t0002g0049 a0003c0003t0001g0072 a0003c0010t0001g0010 a0003c0011t0001g0055 a0003c0011t0001g0056 a0004c0023t0001g0195 a0013c0028t0002g0080	12	248	0.0484	-54	c.240 others(69): Show c.240-670_240-617delGAGATGGAGTCTCACTCTGTCGCCCAGGCG GGAGTGCAGTGGCTCAATCTCGGC	CCDC146	ENSG00000135205.15	transcript	ENST00000285871.5	protein_coding	3/18			chr7	TogoVar
CCDC188_chr22_20143416_20156055	20145105	GCCCCACA others(47): Show GCCCCACAACTCGGCTGCACTAGTCCACGTCCGCGTCGTCTCTGTCTTGC TGCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0051 a0001c0002t0007g0051	1	408	0.0025	-54	c.34 others(65): Show c.3455_*3508delAGGCAGCAAGACAGAGACGACGCGGACGTGGACT AGTGCAGCCGAGTTGTGGGG	CCDC188	ENSG00000234409.7	transcript	ENST00000439765.4	protein_coding		3310		chr22	TogoVar
CCDC38_chr12_95862048_95947614	95908630	AGAGGGAG others(47): Show AGAGGGAGGAGAGGGAGAGGGAGAGGGAGGAGAGGGAGAGGGAGAGGGAG AGGGG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0128 a0001c0014t0001g0128	1	350	0.0029	-54	c.305 others(71): Show c.305-2233_305-2180delCCCCTCTCCCTCTCCCTCTCCCTCTCCT CCCTCTCCCTCTCCCTCTCCTCCCTC	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CCDC57_chr17_82096470_82217842	82150017	CCAGAACC others(47): Show CCAGAACCTGGCACACACCCAGAATGTGACCCCCACCCAGAACCAGGCAC ACACT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01361.hp1 HG01496.hp2 others(3): Show HG00280.hp1 HG01361.hp1 HG01496.hp2 HG02486.hp2 HG04204.hp1 NA20752.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0001 a0002c0003t0002g0035 a0002c0003t0002g0037 others(2): Show a0002c0003t0002g0001 a0002c0003t0002g0035 a0002c0003t0002g0037 a0002c0003t0002g0038 a0002c0003t0002g0061	6	252	0.0238	-54	c.245 others(73): Show c.2455+1489_2455+1542delAGTGTGTGCCTGGTTCTGGGTGGGGG TCACATTCTGGGTGTGTGCCAGGTTCTG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	15/18			chr17	TogoVar
CCDC57_chr17_82096470_82217842	82150874	TGCACACC others(47): Show TGCACACCCAGAACCTGACCCACACCCAGAACCTGACCCGCACCCAGAAC CAGGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00558.hp1 others(118): Show HG00140.hp1 HG00280.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01099.hp1 HG01106.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18941.hp2 NA18943.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18975.hp2 NA18980.hp1 NA18990.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19056.hp2 NA19064.hp1 NA19070.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0005 others(7): Show a0001 a0004 a0005 a0006 a0007 a0010 a0012 a0014 a0015 a0023	a0001c0001 a0001c0023 a0001c0027 others(10): Show a0001c0001 a0001c0023 a0001c0027 a0004c0007 a0004c0029 a0005c0008 a0006c0010 a0007c0011 a0010c0016 a0012c0017 a0014c0020 a0015c0030 a0023c0031	a0001c0001t0001 a0001c0001t0004 a0001c0023t0001 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0023t0001 a0001c0027t0001 a0004c0007t0002 a0004c0029t0002 a0005c0008t0001 a0006c0010t0001 a0007c0011t0002 a0010c0016t0001 a0012c0017t0001 a0014c0020t0002 a0015c0030t0001 a0023c0031t0001	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 others(118): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 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 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0251 a0001c0001t0004g0144 a0001c0023t0001g0248 a0001c0027t0001g0072 a0004c0007t0002g0069 a0004c0007t0002g0174 a0004c0007t0002g0175 a0004c0007t0002g0176 a0004c0007t0002g0177 a0004c0007t0002g0178 a0004c0007t0002g0180 a0004c0029t0002g0157 a0005c0008t0001g0064 a0005c0008t0001g0065 a0005c0008t0001g0066 a0005c0008t0001g0067 a0005c0008t0001g0068 a0005c0008t0001g0173 a0006c0010t0001g0010 a0006c0010t0001g0011 a0006c0010t0001g0012 a0006c0010t0001g0013 a0006c0010t0001g0014 a0007c0011t0002g0015 a0007c0011t0002g0016 a0007c0011t0002g0017 a0007c0011t0002g0018 a0010c0016t0001g0106 a0010c0016t0001g0184 a0012c0017t0001g0021 a0012c0017t0001g0022 a0014c0020t0002g0063 a0015c0030t0001g0002 a0023c0031t0001g0109	121	252	0.4802	-54	c.245 others(71): Show c.2455+632_2455+685delGCCTGGTTCTGGGTGCGGGTCAGGTTCT GGGTGTGGGTCAGGTTCTGGGTGTGC	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	15/18			chr17	TogoVar
CCDC73_chr11_32597721_32799662	32755695	GTATATAT others(47): Show GTATATATATATCTCCATATATATGTGTATATATATATCTCCATATATAT GTGTA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01070.hp2 HG02040.hp2 others(8): Show HG00609.hp1 HG01070.hp2 HG02040.hp2 HG02257.hp2 HG02572.hp2 HG03041.hp2 HG03927.hp2 NA18941.hp1 NA18948.hp1 NA18952.hp2 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0013 others(8): Show a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0013 a0001c0002t0001g0025 a0001c0002t0001g0064 a0001c0002t0001g0080 a0001c0002t0001g0085 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094	11	312	0.0353	-54	c.135 others(71): Show c.135+4360_135+4413delTACACATATATATGGAGATATATATATA CACATATATATGGAGATATATATATA	CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	2/17			chr11	TogoVar
CCDC88A_chr2_55282842_55424856	55384551	GTATATAT others(47): Show GTATATATACACATATATACGTATATATGTGTATATATACACATATATAC GTATA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02630.hp1 HG02970.hp2 others(1): Show HG02486.hp2 HG02630.hp1 HG02970.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0015 a0001c0006t0022 a0001c0001t0015 a0001c0006t0022	a0001c0001t0015g0196 a0001c0001t0015g0197 a0001c0001t0015g0199 others(1): Show a0001c0001t0015g0196 a0001c0001t0015g0197 a0001c0001t0015g0199 a0001c0006t0022g0076	4	316	0.0127	-54	c.273 others(71): Show c.273+4173_273+4226delTATACGTATATATGTGTATATATACACA TATATACGTATATATGTGTATATATA	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	3/32			chr2	TogoVar
CCNB1_chr5_69162150_69183245	69175268	TTAGGACT others(47): Show TTAGGACTTTCCATGGGCATTTGAGAGTTTGTAGACAAACATTTGTAGTT AAAGA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01081.hp2 HG01261.hp1 others(1): Show HG01070.hp2 HG01081.hp2 HG01261.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0131 a0001c0001t0001g0132 others(1): Show a0001c0001t0001g0119 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134	4	420	0.0095	-54	c.943 others(68): Show c.943-126_943-73delGGACTTTCCATGGGCATTTGAGAGTTTGTAG ACAAACATTTGTAGTTAAAGATA	CCNB1	ENSG00000134057.15	transcript	ENST00000256442.10	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
CCNY_chr10_35331509_35577667	35444136	GCTTTAGA others(47): Show GCTTTAGAGGTGACAGCACTCATGGAGCTGTTATCTCCCATGATAGCAAG GCCTT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0282 a0001c0001t0017g0282	1	296	0.0034	-54	c.155 others(73): Show c.155-39264_155-39211delTAGAGGTGACAGCACTCATGGAGCTG TTATCTCCCATGATAGCAAGGCCTTCTT	CCNY	ENSG00000108100.18	transcript	ENST00000374704.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER1_chr4_90122394_91610295	90932990	AAGAAAGA others(47): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02723.hp2 HG02717.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0012 a0001c0001t0004g0022 a0001c0001t0003g0012 a0001c0001t0004g0022	2	38	0.0526	-54	c.217 others(73): Show c.2172+9548_2172+9601delAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAGAA	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CD163L1_chr12_7349960_7449153	7421291	GTGTATAT others(47): Show GTGTATATATGTATATATACATTTGGAAGATATATATGTATATATATCTT CCAAA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG02040.hp1 others(19): Show HG00544.hp2 HG00609.hp1 HG02040.hp1 HG02056.hp1 HG02129.hp2 HG02132.hp1 HG02280.hp1 HG03017.hp1 HG03491.hp1 HG03927.hp1 HG04199.hp2 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18973.hp1 NA18975.hp2 NA18980.hp1 NA18981.hp1 NA18992.hp1 NA19060.hp2 NA19079.hp1 NA19088.hp2	a0001 a0013 a0014 a0001 a0013 a0014	a0001c0001 a0013c0044 a0014c0019 a0001c0001 a0013c0044 a0014c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0013c0044t0002 a0014c0019t0001	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0012 others(15): Show a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0002g0131 a0001c0001t0004g0136 a0013c0044t0002g0357 a0014c0019t0001g0129	22	384	0.0573	-54	c.766 others(73): Show c.766+11071_766+11124delTTTGGAAGATATATATACATATATAT CTTCCAAATGTATATATACATATATACA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	4/19			chr12	TogoVar
CD247_chr1_167425640_167523529	167506235	CTTTTCTT others(47): Show CTTTTCTTTTCCTTTTCTTTTCTTTTCTTTTCTTTTCCTTTTCTTTTCTT TTCTT	C C	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0320 a0001c0001t0002g0320	1	374	0.0027	-54	c.58+ others(71): Show c.58+12119_58+12172delAAGAAAAGAAAAGAAAAGGAAAAGAAAA GAAAAGAAAAGAAAAGGAAAAGAAAA	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	1/7			chr1	TogoVar
CD38_chr4_15773328_15858232	15790118	TCTCCCTC others(47): Show TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCTCCC TCCCC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02976.hp1 HG03209.hp1 others(1): Show HG02970.hp1 HG02976.hp1 HG03209.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0060 a0001c0001t0061 others(1): Show a0001c0001t0017 a0001c0001t0060 a0001c0001t0061 a0001c0001t0063	a0001c0001t0017g0053 a0001c0001t0060g0047 a0001c0001t0061g0046 others(1): Show a0001c0001t0017g0053 a0001c0001t0060g0047 a0001c0001t0061g0046 a0001c0001t0063g0054	4	344	0.0116	-54	c.233 others(73): Show c.233+11477_233+11530delTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCCCTCTCCCTCCCCCTCCC	CD38	ENSG00000004468.13	transcript	ENST00000226279.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
CDCP1_chr3_45077277_45151378	45108877	ATGCATGT others(47): Show ATGCATGTATACATATATATATATATGCATGTATACATATATATATATAT GCATG	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0346 a0001c0001t0002g0346	1	384	0.0026	-54	c.102 others(73): Show c.1024+1542_1024+1595delCATGCATATATATATATATGTATACA TGCATATATATATATATGTATACATGCA	CDCP1	ENSG00000163814.8	transcript	ENST00000296129.6	protein_coding	4/8			chr3	TogoVar
CDCP1_chr3_45077277_45151378	45121259	TGGTCTTC others(47): Show TGGTCTTCAAGCAGTGTGGCCATTTAGAATCTTCTGAGGCTGAGGAGTTC CTCAA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0256 a0001c0001t0042g0256	1	384	0.0026	-54	c.83- others(69): Show c.83-2692_83-2639delTTGAGGAACTCCTCAGCCTCAGAAGATTCT AAATGGCCACACTGCTTGAAGACC	CDCP1	ENSG00000163814.8	transcript	ENST00000296129.6	protein_coding	1/8			chr3	TogoVar
CDH15_chr16_89166748_89200492	89193055	TCCGCCTC others(47): Show TCCGCCTCCTCCCTAACCCCGCCCCCTCATTACCAGCCACGCCCCTTCTC CACTG	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0028 a0003c0028	a0003c0028t0001 a0003c0028t0001	a0003c0028t0001g0054 a0003c0028t0001g0054	1	406	0.0025	-54	c.185 others(71): Show c.1856-402_1856-349delTAACCCCGCCCCCTCATTACCAGCCACG CCCCTTCTCCACTGCCGCCTCCTCCC	CDH15	ENSG00000129910.8	transcript	ENST00000289746.3	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH18_chr5_19466296_19993200	19541278	GGTTCCAA others(47): Show GGTTCCAAACTTTCCCACATCTTCCTGTCTTCCGAGCACTCCAAGTCTCC AGGAT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp1 HG02922.hp2 HG02109.hp1 HG02572.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0020 a0001c0001t0001 a0001c0001t0019 a0001c0001t0020	a0001c0001t0001g0026 a0001c0001t0019g0039 a0001c0001t0020g0041 a0001c0001t0001g0026 a0001c0001t0019g0039 a0001c0001t0020g0041	3	138	0.0217	-54	c.139 others(73): Show c.1390+2537_1390+2590delATCCTGGAGACTTGGAGTGCTCGGAA GACAGGAAGATGTGGGAAAGTTTGGAAC	CDH18	ENSG00000145526.12	transcript	ENST00000382275.6	protein_coding	9/12			chr5	TogoVar
CDH19_chr18_66496083_66609090	66505526	AATATAGT others(47): Show AATATAGTGAACTATATTTATTAATATATATATTAATATATATATAATAT AATAT	A A	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0293 a0001c0002t0001g0293	1	354	0.0028	-54	c.182 others(71): Show c.1829-278_1829-225delATATTATATTATATATATATTAATATAT ATATTAATAAATATAGTTCACTATAT	CDH19	ENSG00000071991.9	transcript	ENST00000262150.7	protein_coding	11/11			chr18	TogoVar
CDH26_chr20_59953423_60019529	59953947	TATATATA others(47): Show TATATATATATATATATATATATATATATATATATAGAGAGAGAGAGAGA GAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0018 a0004c0009t0018	a0004c0009t0018g0205 a0004c0009t0018g0205	1	288	0.0035	-54	c.-47 others(65): Show c.-4779_-4726delATATATATATATATATATATATATATATATATAT AGAGAGAGAGAGAGAGAGAG	CDH26	ENSG00000124215.17	transcript	ENST00000348616.9	protein_coding		4475		chr20	TogoVar
CDK10_chr16_89681689_89701354	89686256	ACCCCCCC others(47): Show ACCCCCCCCCCACCTAGAGGATCCTCTTACCTGGAGGGCCCTTCACCTGG GGAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01516.hp2 HG02257.hp2 others(9): Show HG00639.hp1 HG01516.hp2 HG02257.hp2 HG02630.hp2 HG02647.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG03017.hp2 HG03927.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0062 others(3): Show a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0003g0001 a0001c0001t0005g0024	12	422	0.0284	-54	c.-45 others(63): Show c.-454_-401delCCCCCCCCCCACCTAGAGGATCCTCTTACCTGGAGG GCCCTTCACCTGGGGAAC	CDK10	ENSG00000185324.22	transcript	ENST00000353379.12	protein_coding		432		chr16	TogoVar
CEACAM20_chr19_44501159_44534675	44532511	GAAAGAGA others(47): Show GAAAGAGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAGAAAG AAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0312 a0004c0003t0001g0312	1	438	0.0023	-54	c.-30 others(65): Show c.-3056_-3003delTCTTTCTTTCTTCCTTTCTTTCCTTTCTTTCCTT TCTTTCCTTTCTTTCTCTTT	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding		2837		chr19	TogoVar
CELA1_chr12_51323442_51351679	51329543	AAGGAAGG others(47): Show AAGGAAGGGAAGGGAGTAAACACATGAATGTGGTAAGGAAGATGACGGCT TGCCC	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0071 a0002c0006t0001g0071	1	406	0.0025	-54	c.759 others(68): Show c.759+87_759+140delGGGCAAGCCGTCATCTTCCTTACCACATTCA TGTGTTTACTCCCTTCCCTTCCT	CELA1	ENSG00000139610.2	transcript	ENST00000293636.2	protein_coding	7/7			chr12	TogoVar
CERCAM_chr9_128415857_128442347	128437393	ATGTATGT others(47): Show ATGTATGTATGTGTATGTGTATATATATATATATATATATATATATATAT GTATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0048 a0003c0008t0002g0048	1	400	0.0025	-54	c.54 others(63): Show c.546_*599delTGTATGTATGTGTATGTGTATATATATATATATATA TATATATATATATGTATG	CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding		47		chr9	TogoVar
CERCAM_chr9_128415857_128442347	128437801	ATATATAC others(47): Show ATATATACATATATACGTGTATATACACGTATATACACATACACGTATAT ACACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03927.hp2 HG03710.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	2	400	0.0050	-54	c.95 others(64): Show c.954_*1007delTATATACATATATACGTGTATATACACGTATATAC ACATACACGTATATACACG	CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding		455		chr9	TogoVar
CERCAM_chr9_128415857_128442347	128437814	TACGTGTA others(47): Show TACGTGTATATACACGTATATACACATACACGTATATACACGTATATACA CATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG00738.hp2 others(19): Show HG00323.hp1 HG00642.hp1 HG00738.hp2 HG01106.hp1 HG02027.hp1 HG02056.hp2 NA18612.hp2 NA18939.hp1 NA18949.hp2 NA18954.hp1 NA18979.hp2 NA18989.hp2 NA18992.hp1 NA19000.hp1 NA19011.hp1 NA19011.hp2 NA19057.hp1 NA19058.hp1 NA19070.hp2 NA19074.hp2 NA19081.hp1 homoSapiens_chm13v2.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0020 a0001c0001 a0007c0020	a0001c0001t0001 a0007c0020t0001 a0001c0001t0001 a0007c0020t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0100 a0001c0001t0001g0112 a0001c0001t0001g0129 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0183 a0001c0001t0001g0212 a0007c0020t0001g0116	22	400	0.0550	-54	c.96 others(64): Show c.967_*1020delACGTGTATATACACGTATATACACATACACGTATA TACACGTATATACACATAC	CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding		468		chr9	TogoVar
CERCAM_chr9_128415857_128442347	128437864	CATACACG others(47): Show CATACACGTATATACACGTATATACACATACACGTATATACACGTATATA CACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02886.hp1 HG02886.hp2 others(4): Show HG02486.hp1 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp2 HG03098.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0051 a0001c0003t0001g0044 a0001c0003t0001g0197 others(3): Show a0001c0002t0001g0051 a0001c0003t0001g0044 a0001c0003t0001g0197 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0001g0201	7	400	0.0175	-54	c.10 others(65): Show c.1017_*1070delATACACGTATATACACGTATATACACATACACGT ATATACACGTATATACACAT	CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding		518		chr9	TogoVar
CERS4_chr19_8204370_8267421	8249150	GGATGGGT others(47): Show GGATGGGTGGATGGATGATGGGTGGGTGGACAGATGTTTGGATGGGTGGA TGGAC	G G	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	418	0.0024	-54	c.-1- others(69): Show c.-1-1875_-1-1822delGGACGATGGGTGGATGGATGATGGGTGGGT GGACAGATGTTTGGATGGGTGGAT	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CFAP47_chrX_35914734_36390317	36027088	ATATATAT others(47): Show ATATATATATGATTATATATATGTGATTATATATATATGATTATATATAT ATGAT	A A	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA19056.hp1 NA18982.hp1 NA19056.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0086 a0001c0019t0001g0124 a0001c0019t0001g0086 a0001c0019t0001g0124	2	216	0.0093	-54	c.355 others(73): Show c.3557-4114_3557-4061delTGATTATATATATGATTATATATATG TGATTATATATATATGATTATATATATA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	22/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP54_chr12_96484577_96880555	96826999	ATGATTAA others(47): Show ATGATTAATTATAATATGCAATTATATGTGATTATATATAATATGCAATT ATATG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0001 a0014c0014t0001	a0014c0014t0001g0162 a0014c0014t0001g0162	1	268	0.0037	-54	c.909 others(73): Show c.9097-2008_9097-1955delATTATAATATGCAATTATATGTGATT ATATATAATATGCAATTATATGTGATTA	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96827041	ATGCAATT others(47): Show ATGCAATTATATGTGATTATATATAATATGCAATTATATGTGATTATATA TAATG	A A	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0134 a0002c0007t0001g0134	1	268	0.0037	-54	c.909 others(73): Show c.9097-1946_9097-1893delATGCAATTATATGTGATTATATATAA TGTGCAATTATATGTGATTATATATAAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96827154	ATTATATG others(47): Show ATTATATGTGATTATATATAATGTGCAGTTATATGTGATTATATATAATG TGCAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02280.hp1 others(2): Show HG01891.hp2 HG02145.hp1 HG02280.hp1 HG02970.hp1 HG03516.hp2	a0001 a0015 a0026 others(1): Show a0001 a0015 a0026 a0063	a0001c0001 a0015c0030 a0026c0025 others(1): Show a0001c0001 a0015c0030 a0026c0025 a0063c0099	a0001c0001t0001 a0015c0030t0003 a0026c0025t0001 others(1): Show a0001c0001t0001 a0015c0030t0003 a0026c0025t0001 a0063c0099t0003	a0001c0001t0001g0025 a0015c0030t0003g0192 a0026c0025t0001g0002 others(2): Show a0001c0001t0001g0025 a0015c0030t0003g0192 a0026c0025t0001g0002 a0026c0025t0001g0003 a0063c0099t0003g0195	5	268	0.0187	-54	c.909 others(73): Show c.9097-1813_9097-1760delATGTGCAGTTATATGTGATTATATAT AATGTGCAGTTATATGTGATTATATATA	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96827228	ATGTGCAG others(47): Show ATGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATATGTGATTATA TATAG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01168.hp1 HG01496.hp2 others(10): Show HG01099.hp1 HG01168.hp1 HG01496.hp2 HG02145.hp1 HG02735.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18995.hp1 NA19064.hp2 NA19065.hp1 NA19079.hp2 NA19090.hp1	a0001 a0002 a0006 others(4): Show a0001 a0002 a0006 a0009 a0010 a0033 a0063	a0001c0001 a0002c0007 a0006c0049 others(4): Show a0001c0001 a0002c0007 a0006c0049 a0009c0008 a0010c0013 a0033c0076 a0063c0099	a0001c0001t0001 a0002c0007t0001 a0006c0049t0001 others(4): Show a0001c0001t0001 a0002c0007t0001 a0006c0049t0001 a0009c0008t0001 a0010c0013t0001 a0033c0076t0001 a0063c0099t0003	a0001c0001t0001g0078 a0002c0007t0001g0124 a0002c0007t0001g0135 others(10): Show a0001c0001t0001g0078 a0002c0007t0001g0124 a0002c0007t0001g0135 a0006c0049t0001g0043 a0009c0008t0001g0197 a0009c0008t0001g0198 a0009c0008t0001g0199 a0009c0008t0001g0206 a0010c0013t0001g0185 a0010c0013t0001g0187 a0010c0013t0001g0188 a0033c0076t0001g0179 a0063c0099t0003g0195	13	268	0.0485	-54	c.909 others(73): Show c.9097-1455_9097-1402delGTTATATGTGATTATATATAGTGTGC AGTTATATGTGATTATATATAGTGTGCA	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96827559	GTTATATG others(47): Show GTTATATGTGATTATATATAGTGTGCAGTTATATGTGATTATATATAGTG TGCAA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0137 a0002c0007t0001g0137	1	268	0.0037	-54	c.909 others(73): Show c.9097-1435_9097-1382delGTGTGCAGTTATATGTGATTATATAT AGTGTGCAATTATATGTGATTATATATA	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP58_chr10_104348833_104460102	104357899	GTACACAT others(47): Show GTACACATATACACACATATATGTACACATATACACACATATATGTACAC ATATA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02922.hp2 HG03098.hp1 others(1): Show HG02451.hp1 HG02922.hp2 HG03098.hp1 HG03209.hp2	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0007 a0003c0005 a0010c0020 a0001c0007 a0003c0005 a0010c0020	a0001c0007t0001 a0003c0005t0001 a0010c0020t0001 a0001c0007t0001 a0003c0005t0001 a0010c0020t0001	a0001c0007t0001g0240 a0003c0005t0001g0238 a0003c0005t0001g0239 others(1): Show a0001c0007t0001g0240 a0003c0005t0001g0238 a0003c0005t0001g0239 a0010c0020t0001g0237	4	308	0.0130	-54	c.10- others(67): Show c.10-431_10-378delCACACATATATGTACACATATACACACATATA TGTACACATATATACACATATA	CFAP58	ENSG00000120051.15	transcript	ENST00000369704.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP58_chr10_104348833_104460102	104357916	TATATGTA others(47): Show TATATGTACACATATACACACATATATGTACACATATATACACATATATG TACAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02647.hp1 HG02717.hp2 others(19): Show HG02486.hp1 HG02647.hp1 HG02717.hp2 HG02970.hp2 HG03225.hp2 HG03579.hp2 NA18943.hp1 NA18945.hp1 NA18953.hp1 NA18961.hp2 NA18963.hp2 NA18972.hp2 NA18975.hp2 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18995.hp2 NA19001.hp2 NA19002.hp1 NA19043.hp2 NA19082.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0002c0002t0002 a0003c0005t0001	a0001c0001t0001g0059 a0001c0001t0001g0069 a0001c0001t0001g0076 others(19): Show a0001c0001t0001g0059 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0004t0001g0091 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0081 a0002c0002t0001g0083 a0002c0002t0001g0087 a0002c0002t0001g0307 a0002c0002t0002g0090 a0003c0005t0001g0075	22	308	0.0714	-54	c.10- others(67): Show c.10-415_10-362delCATATACACACATATATGTACACATATATACA CATATATGTACACATATGTACA	CFAP58	ENSG00000120051.15	transcript	ENST00000369704.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP68_chr11_111874541_111890975	111877625	TCCTGCCT others(47): Show TCCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGCACGTGCCAGCACG GCCAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	392	0.0026	-54	c.-19 others(65): Show c.-1935_-1882delCCTGCCTCAGCCTCCCAAGTACCTGGGACTACAG GCACGTGCCAGCACGGCCAG	CFAP68	ENSG00000137720.8	transcript	ENST00000260276.8	protein_coding		1915		chr11	TogoVar
CHCHD6_chr3_126699240_126965420	126863023	ACCTCCTC others(47): Show ACCTCCTCCTCCTCCACCATCACCACCTCCTCCTCCTCCTCCACCATCAT CACCT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01255.hp1 HG02004.hp1 others(25): Show HG00408.hp2 HG01255.hp1 HG02004.hp1 HG02132.hp1 HG02135.hp1 HG02257.hp1 HG02280.hp2 HG02615.hp2 HG02809.hp1 HG02965.hp1 HG03579.hp1 HG03704.hp1 NA18943.hp1 NA18945.hp1 NA18954.hp1 NA18960.hp2 NA18962.hp2 NA18971.hp1 NA18983.hp2 NA18995.hp2 NA19000.hp2 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19068.hp2 NA19070.hp2 NA19240.hp1 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0007 a0001c0001 a0002c0002 a0004c0007	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0004c0007t0004	a0001c0001t0001g0088 a0001c0001t0001g0112 a0001c0001t0001g0113 others(25): Show a0001c0001t0001g0088 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0141 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0074 a0002c0002t0002g0094 a0004c0007t0004g0216	28	216	0.1296	-54	c.495 others(73): Show c.495+10383_495+10436delTCCTCCACCATCATCACCTCCTCCTC CTCCTCCACCATCACCACCTCCTCCTCC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD5_chr1_6096787_6185321	6160060	AGCCACAG others(47): Show AGCCACAGCCAGGGAAGGGCCCCAGCCAGAGAAGAAGAACCCCAGCCAGG GAAGG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp1 HG02630.hp2 others(8): Show HG02055.hp1 HG02572.hp1 HG02630.hp2 HG02647.hp2 HG02886.hp2 HG02970.hp1 HG02976.hp1 HG03225.hp1 HG03471.hp2 NA18906.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0010 a0001c0014 a0002c0012 a0001c0010 a0001c0014 a0002c0012	a0001c0010t0014 a0001c0014t0001 a0001c0014t0011 others(4): Show a0001c0010t0014 a0001c0014t0001 a0001c0014t0011 a0001c0014t0033 a0001c0014t0081 a0002c0012t0001 a0002c0012t0025	a0001c0010t0014g0242 a0001c0014t0001g0049 a0001c0014t0011g0038 others(8): Show a0001c0010t0014g0242 a0001c0014t0001g0049 a0001c0014t0011g0038 a0001c0014t0033g0304 a0001c0014t0033g0305 a0001c0014t0081g0307 a0002c0012t0001g0037 a0002c0012t0001g0048 a0002c0012t0025g0302 a0002c0012t0025g0306 a0002c0012t0025g0312	11	320	0.0344	-54	c.208 others(69): Show c.208-599_208-546delCCTTCCCTGGCTGGGGTTCTTCTTCTCTGG CTGGGGCCCTTCCCTGGCTGTGGC	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	2/41			chr1	TogoVar
CHD5_chr1_6096787_6185321	6160356	GGAAGGGC others(47): Show GGAAGGGCCCCAGCCAGAGAAGAAGAGCCCTAGCCAGGGAAGGGCCCCAG CCAGA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0041 a0001c0009t0041	a0001c0009t0041g0014 a0001c0009t0041g0014	1	320	0.0031	-54	c.208 others(69): Show c.208-895_208-842delTCTGGCTGGGGCCCTTCCCTGGCTAGGGCT CTTCTTCTCTGGCTGGGGCCCTTC	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	2/41			chr1	TogoVar

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