Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

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
ATP9B_chr18_79064394_79383283	79365885	GGGGACAG others(33): Show GGGGACAGCCTGTGTGTGATGGAAGGACATCTCCGTGGACA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03540.hp2 HG02109.hp1 HG03540.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0285 a0001c0006t0007g0286 a0001c0006t0007g0285 a0001c0006t0007g0286	2	298	0.0067	-40	c.301 others(59): Show c.3012+6454_3012+6493delTCCGTGGACAGGGACAGCCTGTGTGT GATGGAAGGACATC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AUTS2_chr7_69593475_70798506	69665772	TGTACAGG others(33): Show TGTACAGGTTGCCATATTTGCCAGAAATCAGCTTTACACAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0038 a0001c0001t0006g0038	1	76	0.0132	-40	c.309 others(59): Show c.309+65813_309+65852delACAGGTTGCCATATTTGCCAGAAATC AGCTTTACACAAGT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678880	GGTGTGTG others(33): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02135.hp2 NA20129.hp1 HG01361.hp2 HG02135.hp2 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0002 a0003c0003t0001 a0001c0001t0001 a0002c0002t0002 a0003c0003t0001	a0001c0001t0001g0169 a0002c0002t0002g0149 a0003c0003t0001g0227 a0001c0001t0001g0169 a0002c0002t0002g0149 a0003c0003t0001g0227	3	446	0.0067	-40	c.287 others(55): Show c.287+699_287+738delACACACACACACACACACACACACACACAC ACACACACAC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AXIN1_chr16_282440_357723	285966	TCCCAACC others(33): Show TCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	378	0.0027	-40	c.21 others(51): Show c.2116_*2155delGTTGGGAGAACCGCGGGGTTGGGAGAACCGCGGG GTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1473		chr16	TogoVar
AZU1_chr19_822837_837018	831990	TGTAATAA others(33): Show TGTAATAAAGAAGCCGATCTCTCCTCTGCTCCTGGTTTCTG	T T	splice_region_variant splice_region_variant	LOW	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	391	0.0026	-40	c.11 others(49): Show c.114_*153delGTAATAAAGAAGCCGATCTCTCCTCTGCTCCTGGTT TCTG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding	5/5			chr19	TogoVar
AZU1_chr19_822837_837018	832124	TCAGATGT others(33): Show TCAGATGTTCAGAGATTCCCTCAAAGCCCGGGAAGCAGGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	391	0.0026	-40	c.24 others(49): Show c.248_*287delCAGATGTTCAGAGATTCCCTCAAAGCCCGGGAAGCA GGGG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		107		chr19	TogoVar
B3GALT1_chr2_167288001_167879045	167588826	CTTCCTTC others(33): Show CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0063 a0001c0001t0020g0063	1	118	0.0085	-40	c.-40 others(61): Show c.-409-58063_-409-58024delTTTCCTTCCTTCCTTCCTTCTTTC CTTCCTTCCTTCCTTC	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167876057	ATATATAT others(33): Show ATATATATATGTATATATATATATACGTATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0041 a0001c0001t0035g0041	1	118	0.0085	-40	c.60 others(51): Show c.6038_*6077delTATATATATGTATATATATATATACGTATATATA TATATG	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		2013		chr2	TogoVar
B3GALT5_chr21_39607940_39678137	39623217	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp2 HG02976.hp2 HG02145.hp1 HG02572.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0026 a0001c0001t0002 a0001c0003t0026	a0001c0001t0002g0138 a0001c0003t0026g0134 a0001c0003t0026g0135 a0001c0001t0002g0138 a0001c0003t0026g0134 a0001c0003t0026g0135	3	336	0.0089	-40	c.-39 others(61): Show c.-392+10154_-392+10193delCCCTCCCTCCCTCCCTCCCTCCCT TCCTTCCTTCCTTCCT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GNT5_chr3_183248253_183278385	183262122	ATCGTTTT others(33): Show ATCGTTTTATGATACTTTATTATATACACTAAGGGTTAGTC	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01175.hp2 others(2): Show HG01069.hp1 HG01071.hp1 HG01175.hp2 HG01884.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0022 a0001c0001t0001g0189 a0001c0001t0008g0022 others(1): Show a0001c0001t0001g0022 a0001c0001t0001g0189 a0001c0001t0008g0022 a0001c0001t0008g0181	5	390	0.0128	-40	c.-30 others(59): Show c.-301-7374_-301-7335delCGTTTTATGATACTTTATTATATACA CTAAGGGTTAGTCT	B3GNT5	ENSG00000176597.12	transcript	ENST00000326505.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
B3GNT5_chr3_183248253_183278385	183262124	CGTTTTAT others(33): Show CGTTTTATGATACTTTATTATATACACTAAGGGTTAGTCTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00735.hp1 others(81): Show HG00438.hp1 HG00597.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01257.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03831.hp2 HG03927.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18943.hp1 NA18945.hp1 NA18948.hp2 NA18952.hp1 NA18974.hp1 NA18984.hp1 NA18987.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19006.hp2 NA19007.hp2 NA19070.hp2 NA19075.hp2 NA19079.hp2 NA19081.hp1 NA19085.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0001t0016 a0005c0005t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 others(65): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0093 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0002g0036 a0001c0001t0002g0070 a0001c0001t0002g0096 a0001c0001t0002g0161 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0004g0021 a0001c0001t0004g0126 a0001c0001t0004g0129 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0014g0020 a0001c0001t0016g0017 a0005c0005t0001g0017	84	390	0.2154	-40	c.-30 others(59): Show c.-301-7277_-301-7238delTTATATACACTAAGGGTTAGTCTTGT TTTATGATACTTTA	B3GNT5	ENSG00000176597.12	transcript	ENST00000326505.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
B3GNT6_chr11_77029398_77046973	77032668	TATATATA others(33): Show TATATATATATACACATACATACATACATATATATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00735.hp2 HG00741.hp1 others(15): Show HG00280.hp2 HG00735.hp2 HG00741.hp1 HG01255.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG02055.hp2 HG02486.hp2 HG02622.hp2 HG02809.hp2 HG02965.hp1 HG03098.hp2 HG03516.hp2 HG06807.hp1 NA18522.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0007 a0001c0002t0003 a0001c0002t0005 others(2): Show a0001c0001t0007 a0001c0002t0003 a0001c0002t0005 a0001c0002t0012 a0002c0003t0001	a0001c0001t0007g0008 a0001c0002t0003g0021 a0001c0002t0005g0005 others(3): Show a0001c0001t0007g0008 a0001c0002t0003g0021 a0001c0002t0005g0005 a0001c0002t0005g0054 a0001c0002t0012g0018 a0002c0003t0001g0004	18	442	0.0407	-40	c.-18 others(51): Show c.-1810_-1771delATATATATATACACATACATACATACATATATAT ATATAC	B3GNT6	ENSG00000198488.10	transcript	ENST00000622824.1	protein_coding		1729		chr11	TogoVar
B3GNTL1_chr17_82937149_83056770	82972643	CCACCACA others(33): Show CCACCACACCACACTCATAGGGGCCAGAAGGACCCGGTACT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03225.hp2 HG03453.hp2 others(2): Show HG02886.hp1 HG03225.hp2 HG03453.hp2 HG06807.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0016 a0001c0011t0001 a0001c0011t0010 others(1): Show a0001c0002t0016 a0001c0011t0001 a0001c0011t0010 a0001c0011t0011	a0001c0002t0016g0135 a0001c0011t0001g0144 a0001c0011t0010g0146 others(2): Show a0001c0002t0016g0135 a0001c0011t0001g0144 a0001c0011t0010g0146 a0001c0011t0010g0147 a0001c0011t0011g0139	5	266	0.0188	-40	c.460 others(57): Show c.460-6937_460-6898delAGTACCGGGTCCTTCTGGCCCCTATGAG TGTGGTGTGGTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83017921	AAACACGG others(33): Show AAACACGGTGCGCCTGTATCAGGTACCACACGTGCTCCGTG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp2 HG03453.hp1 others(2): Show HG01891.hp2 HG02451.hp2 HG03453.hp1 HG03486.hp1 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0011 a0004c0017 a0001c0011 a0004c0017	a0001c0011t0011 a0001c0011t0012 a0004c0017t0002 a0001c0011t0011 a0001c0011t0012 a0004c0017t0002	a0001c0011t0011g0138 a0001c0011t0011g0139 a0001c0011t0012g0142 others(2): Show a0001c0011t0011g0138 a0001c0011t0011g0139 a0001c0011t0012g0142 a0004c0017t0002g0136 a0004c0017t0002g0137	5	266	0.0188	-40	c.298 others(57): Show c.298-3442_298-3403delCACGGAGCACGTGTGGTACCTGATACAG GCGCACCGTGTT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83017927	GGTGCGCC others(33): Show GGTGCGCCTGTATCAGGTACCACACGTGCTCCGTGAACACC	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01261.hp1 others(7): Show HG01167.hp2 HG01169.hp1 HG01261.hp1 HG02055.hp2 HG02572.hp2 HG03041.hp1 HG03130.hp1 HG03579.hp2 NA18906.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 others(3): Show a0001c0001 a0001c0002 a0001c0011 a0001c0013 a0001c0014 a0001c0029	a0001c0001t0001 a0001c0002t0001 a0001c0011t0030 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0011t0030 a0001c0013t0012 a0001c0014t0002 a0001c0029t0001	a0001c0001t0001g0186 a0001c0002t0001g0089 a0001c0002t0001g0114 others(6): Show a0001c0001t0001g0186 a0001c0002t0001g0089 a0001c0002t0001g0114 a0001c0011t0030g0143 a0001c0013t0012g0001 a0001c0013t0012g0013 a0001c0013t0012g0014 a0001c0014t0002g0011 a0001c0029t0001g0141	10	266	0.0376	-40	c.298 others(57): Show c.298-3448_298-3409delGGTGTTCACGGAGCACGTGTGGTACCTG ATACAGGCGCAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81411490	GCCTGCCT others(33): Show GCCTGCCTGCCTGCCTGCCTGCCTGCCTTCCTTCCTTCCTT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0013 a0013	a0013c0097 a0013c0097	a0013c0097t0001 a0013c0097t0001	a0013c0097t0001g0235 a0013c0097t0001g0235	1	332	0.0030	-40	c.178 others(59): Show c.178+11577_178+11616delGCCTGCCTGCCTGCCTGCCTGCCTTC CTTCCTTCCTTCCT	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81411494	GCCTGCCT others(33): Show GCCTGCCTGCCTGCCTGCCTGCCTTCCTTCCTTCCTTCCTT	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0009	a0001c0007t0009g0014 a0001c0007t0009g0014	1	332	0.0030	-40	c.178 others(59): Show c.178+11581_178+11620delGCCTGCCTGCCTGCCTGCCTTCCTTC CTTCCTTCCTTCCT	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BANK1_chr4_101785730_102079812	101986833	GTATATAT others(33): Show GTATATATATGTGTATATATATGTATATATATATGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	284	0.0035	-40	c.120 others(61): Show c.1207-34679_1207-34640delATATATATGTGTATATATATGTAT ATATATATGTGTGTAT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BATF2_chr11_64982945_65001971	64983532	TTTTATAT others(33): Show TTTTATATTTTATTTTATATTTTATTTTATATTTTATTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	404	0.0025	-40	c.55 others(51): Show c.5557_*5596delTAAAATAAAATATAAAATAAAATATAAAATAAAA TATAAA	BATF2	ENSG00000168062.10	transcript	ENST00000301887.9	protein_coding		4412		chr11	TogoVar
BATF2_chr11_64982945_65001971	64983537	TATTTTAT others(33): Show TATTTTATTTTATATTTTATTTTATATTTTATTTTATTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(15): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp1 HG01081.hp1 HG01106.hp2 HG01175.hp1 HG01255.hp1 HG01346.hp1 HG02698.hp2 HG02895.hp2 HG03209.hp2 HG03471.hp1 HG03491.hp1 HG03491.hp2 NA18954.hp1 NA18971.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0021 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0046 a0001c0001t0001g0084 a0001c0001t0012g0069	18	404	0.0446	-40	c.55 others(51): Show c.5552_*5591delTAAAATAAAATAAAATATAAAATAAAATATAAAA TAAAAT	BATF2	ENSG00000168062.10	transcript	ENST00000301887.9	protein_coding		4407		chr11	TogoVar
BAZ2B_chr2_159313979_159621548	159324625	TACACACA others(33): Show TACACACACACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG04184.hp2 NA18941.hp1 others(4): Show HG02135.hp2 HG04184.hp2 NA18941.hp1 NA18961.hp2 NA18983.hp2 NA19070.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0026 a0001c0001t0001g0061 a0001c0001t0001g0120 others(4): Show a0001c0001t0001g0026 a0001c0001t0001g0061 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0002g0162 a0001c0001t0002g0207 a0001c0001t0002g0209	7	216	0.0324	-40	c.635 others(57): Show c.6353+146_6353+185delGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	36/36			chr2	TogoVar
BBS7_chr4_121819329_121875474	121855851	CACATGTA others(33): Show CACATGTATGTGTATATATGTATATGTACATATATGTACAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00544.hp1 others(35): Show HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG02015.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp2 HG02155.hp1 HG02165.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02717.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp2 HG03486.hp1 HG03491.hp1 HG03579.hp2 HG03831.hp1 NA18941.hp1 NA18946.hp2 NA18950.hp1 NA18952.hp2 NA18962.hp2 NA18964.hp2 NA18969.hp1 NA18973.hp1 NA18977.hp2 NA18980.hp2 NA18986.hp1 NA18998.hp2 NA19001.hp1 NA19009.hp2 NA19084.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0001t0001 a0001c0001t0007 a0001c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0017 others(26): Show a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0007g0211 a0001c0002t0001g0022 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091	38	374	0.1016	-40	c.529 others(55): Show c.529-330_529-291delATGTACATATATGTACATATACATATATAC ACATACATGT	BBS7	ENSG00000138686.10	transcript	ENST00000264499.9	protein_coding	5/18			chr4	TogoVar
BBS9_chr7_33124564_33611069	33294330	TATCTATC others(33): Show TATCTATCTATCTATCTATCTATCTCTTTGTCCATCCATCC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0043 a0002c0002t0019g0043	1	268	0.0037	-40	c.101 others(61): Show c.1016+20378_1016+20417delTATCTATCTATCTATCTATCTCTT TGTCCATCCATCCATC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33304351	GTCTGGGA others(33): Show GTCTGGGAGGTGAGGAGCACCTCTGCCCGGCCGCCACCCCA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01884.hp2 HG02257.hp2 others(8): Show HG00642.hp1 HG01884.hp2 HG02257.hp2 HG02572.hp2 HG02622.hp1 HG02922.hp1 HG02965.hp1 HG03130.hp2 NA18522.hp1 NA18906.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0017 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0017 a0001c0009t0001 a0002c0002t0001	a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0227 others(8): Show a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0007g0228 a0001c0001t0017g0226 a0001c0009t0001g0240 a0001c0009t0001g0241 a0002c0002t0001g0219	11	268	0.0410	-40	c.101 others(61): Show c.1016+30412_1016+30451delCACCTCTGCCCGGCCGCCACCCCA TCTGGGAGGTGAGGAG	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBX_chr3_107517962_107816339	107638778	TATACACA others(33): Show TATACACACACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG01081.hp1 others(10): Show HG00140.hp2 HG00639.hp2 HG01081.hp1 HG01168.hp1 HG01346.hp1 HG01433.hp2 HG01981.hp2 HG02145.hp1 HG03017.hp2 HG03239.hp1 HG03704.hp1 HG06807.hp1 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0035 a0001c0001t0001 a0001c0001t0004 a0001c0001t0035	a0001c0001t0001g0104 a0001c0001t0004g0099 a0001c0001t0004g0105 others(10): Show a0001c0001t0001g0104 a0001c0001t0004g0099 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0108 a0001c0001t0004g0155 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0198 a0001c0001t0035g0107	13	222	0.0586	-40	c.-83 others(57): Show c.-83-7056_-83-7017delTACACACACACACACACACACACACACA CACACACACACA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BCAS1_chr20_53938541_54075594	53974008	GTCAGCAC others(33): Show GTCAGCACTTTGTGTCTAGCTTAAGGATGTAAATGCACCAA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01516.hp2 HG00738.hp2 HG01516.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0013 a0003c0003t0045 a0003c0003t0013 a0003c0003t0045	a0003c0003t0013g0048 a0003c0003t0045g0011 a0003c0003t0013g0048 a0003c0003t0045g0011	2	364	0.0055	-40	c.131 others(59): Show c.1317+1341_1317+1380delTTGGTGCATTTACATCCTTAAGCTAG ACACAAAGTGCTGA	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	9/12			chr20	TogoVar
BCL11B_chr14_99164287_99277197	99199673	TGTGTGTG others(33): Show TGTGTGTGTGTGCGCGCGCGCGCGCACGTGCACGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0010 a0001c0001t0037g0010	1	350	0.0029	-40	c.641 others(59): Show c.641-23518_641-23479delGCACACACGTGCACGTGCGCGCGCGC GCGCACACACACAC	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCL11B_chr14_99164287_99277197	99229003	AATGGATG others(33): Show AATGGATGGATGGATGGATGGATGGATGGATGGATGGATGC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0057 a0001c0002t0049g0057	1	350	0.0029	-40	c.640 others(57): Show c.640+2302_640+2341delGCATCCATCCATCCATCCATCCATCCAT CCATCCATCCAT	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCOR_chrX_40046251_40102958	40046522	TTATATAT others(33): Show TTATATATATAAATATATATATATATATGTATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG03195.hp2 NA18906.hp1 others(1): Show HG02258.hp1 HG03195.hp2 NA18906.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0117 a0001c0001t0001g0236 a0001c0001t0002g0024 others(1): Show a0001c0001t0001g0117 a0001c0001t0001g0236 a0001c0001t0002g0024 a0001c0001t0002g0031	4	257	0.0156	-40	c.55 others(51): Show c.5547_*5586delTATATATATATACATATATATATATATATTTATA TATATA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4728		chrX	TogoVar
BEND3_chr6_107060182_107120515	107073197	GTATGTAT others(33): Show GTATGTATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00621.hp2 others(50): Show HG00099.hp2 HG00544.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01099.hp1 HG01123.hp1 HG01192.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02148.hp2 HG02273.hp2 HG02300.hp1 HG02647.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG03239.hp1 HG03516.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG04115.hp2 HG04228.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18957.hp2 NA18978.hp2 NA18986.hp2 NA19084.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0014	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(13): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0018 a0001c0001t0020 a0001c0001t0026 a0001c0001t0045 a0001c0001t0063 a0001c0002t0001 a0001c0002t0042 a0001c0004t0016 a0001c0005t0007 a0001c0014t0032	a0001c0001t0002g0001 a0001c0001t0002g0114 a0001c0001t0002g0121 others(48): Show a0001c0001t0002g0001 a0001c0001t0002g0114 a0001c0001t0002g0121 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0135 a0001c0001t0002g0152 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0246 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0291 a0001c0001t0004g0180 a0001c0001t0004g0183 a0001c0001t0004g0282 a0001c0001t0004g0302 a0001c0001t0005g0029 a0001c0001t0005g0098 a0001c0001t0005g0131 a0001c0001t0005g0134 a0001c0001t0005g0257 a0001c0001t0005g0341 a0001c0001t0008g0311 a0001c0001t0010g0124 a0001c0001t0011g0354 a0001c0001t0018g0242 a0001c0001t0018g0259 a0001c0001t0018g0266 a0001c0001t0018g0342 a0001c0001t0020g0169 a0001c0001t0026g0289 a0001c0001t0026g0293 a0001c0001t0045g0288 a0001c0001t0063g0362 a0001c0002t0001g0196 a0001c0002t0042g0159 a0001c0004t0016g0066 a0001c0004t0016g0093 a0001c0004t0016g0303 a0001c0005t0007g0061 a0001c0014t0032g0217	53	368	0.1440	-40	c.241 others(57): Show c.241-2287_241-2248delTATATATATATATATATATATATATATA TATATATACATA	BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	3/3			chr6	TogoVar
BEST3_chr12_69648609_69704303	69700888	TTTCCTTC others(33): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02723.hp1 HG02809.hp2 others(2): Show HG02055.hp1 HG02723.hp1 HG02809.hp2 HG03486.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0011 a0001c0004t0001 a0001c0004t0011	a0001c0004t0001g0015 a0001c0004t0001g0062 a0001c0004t0011g0060 others(1): Show a0001c0004t0001g0015 a0001c0004t0001g0062 a0001c0004t0011g0060 a0001c0004t0011g0061	5	366	0.0137	-40	c.-17 others(51): Show c.-1739_-1700delGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAA	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding		1586		chr12	TogoVar
BFSP2_chr3_133395056_133480208	133446570	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01255.hp2 HG01258.hp1 others(5): Show HG00735.hp2 HG01255.hp2 HG01258.hp1 HG02976.hp2 HG03453.hp1 HG03579.hp2 NA18906.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0001t0001 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0129 a0001c0002t0001g0067 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0129 a0001c0002t0001g0067 a0001c0002t0001g0088 a0001c0002t0001g0203 a0001c0004t0001g0033	8	276	0.0290	-40	c.490 others(55): Show c.490-716_490-677delTATATATATATATATATATATATATATATA TATATATATA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BICC1_chr10_58507872_58836435	58732371	GTGTGTAT others(33): Show GTGTGTATGTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0122 a0001c0001t0007g0122	1	132	0.0076	-40	c.307 others(59): Show c.307+30230_307+30269delGTGTATGTATATATATATATATATAT ATATATATATATAT	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICC1_chr10_58507872_58836435	58832138	TATATACA others(33): Show TATATACATATTAATGACACATAAATAGTGTCAGGCTCTGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	132	0.0076	-40	c.32 others(51): Show c.3248_*3287delATATACATATTAATGACACATAAATAGTGTCAGG CTCTGG	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding		704		chr10	TogoVar
BICD1_chr12_32101847_32388633	32348723	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(157): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00741.hp2 HG01069.hp2 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18954.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19057.hp1 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp2 NA19084.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0028 a0001c0001t0030 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0043 a0001c0001t0060 a0001c0001t0061 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0020 a0001c0002t0021 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027 a0001c0002t0037 a0001c0002t0040 a0001c0002t0051 a0001c0003t0002 a0001c0003t0013 a0001c0003t0033 a0001c0003t0042 a0001c0003t0052 a0001c0003t0053 a0001c0003t0054 a0001c0005t0009 a0001c0005t0012 a0001c0007t0050 a0002c0010t0008	a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0276 others(157): Show a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0276 a0001c0001t0002g0199 a0001c0001t0003g0246 a0001c0001t0004g0132 a0001c0001t0006g0021 a0001c0001t0006g0023 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0105 a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0006g0155 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0006g0160 a0001c0001t0006g0162 a0001c0001t0006g0163 a0001c0001t0006g0164 a0001c0001t0006g0165 a0001c0001t0007g0167 a0001c0001t0008g0108 a0001c0001t0008g0113 a0001c0001t0008g0123 a0001c0001t0008g0125 a0001c0001t0008g0129 a0001c0001t0008g0137 a0001c0001t0008g0140 a0001c0001t0008g0144 a0001c0001t0009g0068 a0001c0001t0009g0070 a0001c0001t0009g0081 a0001c0001t0009g0084 a0001c0001t0009g0086 a0001c0001t0009g0159 a0001c0001t0009g0183 a0001c0001t0009g0288 a0001c0001t0010g0003 a0001c0001t0010g0014 a0001c0001t0010g0018 a0001c0001t0010g0103 a0001c0001t0010g0133 a0001c0001t0010g0143 a0001c0001t0010g0158 a0001c0001t0010g0161 a0001c0001t0011g0044 a0001c0001t0011g0057 a0001c0001t0011g0080 a0001c0001t0011g0254 a0001c0001t0011g0259 a0001c0001t0011g0269 a0001c0001t0012g0211 a0001c0001t0012g0237 a0001c0001t0012g0265 a0001c0001t0015g0020 a0001c0001t0015g0042 a0001c0001t0016g0037 a0001c0001t0016g0041 a0001c0001t0016g0154 a0001c0001t0017g0092 a0001c0001t0017g0093 a0001c0001t0017g0094 a0001c0001t0018g0219 a0001c0001t0018g0227 a0001c0001t0018g0268 a0001c0001t0019g0173 a0001c0001t0019g0185 a0001c0001t0019g0191 a0001c0001t0020g0217 a0001c0001t0022g0101 a0001c0001t0022g0102 a0001c0001t0028g0006 a0001c0001t0030g0029 a0001c0001t0032g0033 a0001c0001t0035g0097 a0001c0001t0036g0090 a0001c0001t0039g0100 a0001c0001t0043g0236 a0001c0001t0060g0244 a0001c0001t0061g0226 a0001c0002t0002g0043 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0053 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0071 a0001c0002t0002g0073 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0083 a0001c0002t0002g0121 a0001c0002t0002g0131 a0001c0002t0002g0172 a0001c0002t0002g0192 a0001c0002t0002g0195 a0001c0002t0002g0207 a0001c0002t0002g0212 a0001c0002t0002g0215 a0001c0002t0002g0228 a0001c0002t0002g0241 a0001c0002t0002g0243 a0001c0002t0002g0253 a0001c0002t0002g0263 a0001c0002t0002g0282 a0001c0002t0003g0148 a0001c0002t0003g0168 a0001c0002t0005g0001 a0001c0002t0005g0008 a0001c0002t0005g0011 a0001c0002t0005g0012 a0001c0002t0005g0104 a0001c0002t0005g0110 a0001c0002t0005g0111 a0001c0002t0005g0112 a0001c0002t0005g0116 a0001c0002t0005g0118 a0001c0002t0005g0124 a0001c0002t0005g0126 a0001c0002t0005g0127 a0001c0002t0005g0135 a0001c0002t0005g0138 a0001c0002t0005g0141 a0001c0002t0005g0151 a0001c0002t0005g0248 a0001c0002t0005g0252 a0001c0002t0005g0290 a0001c0002t0007g0022 a0001c0002t0007g0028 a0001c0002t0007g0150 a0001c0002t0008g0115 a0001c0002t0008g0145 a0001c0002t0020g0052 a0001c0002t0020g0214 a0001c0002t0021g0169 a0001c0002t0021g0249 a0001c0002t0025g0065 a0001c0002t0025g0078 a0001c0002t0026g0013 a0001c0002t0027g0120 a0001c0002t0037g0095 a0001c0002t0040g0091 a0001c0002t0051g0266 a0001c0003t0002g0240 a0001c0003t0013g0051 a0001c0003t0013g0189 a0001c0003t0013g0277 a0001c0003t0033g0122 a0001c0003t0042g0274 a0001c0003t0052g0286 a0001c0003t0053g0285 a0001c0003t0054g0079 a0001c0005t0009g0270 a0001c0005t0012g0271 a0001c0007t0050g0186 a0002c0010t0008g0256	160	290	0.5517	-40	c.276 others(59): Show c.2764+9761_2764+9800delATATATATATATATATATATATATAT ATATATATATATAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BMP2K_chr4_78771350_78921365	78829767	TTTCTTTT others(33): Show TTTCTTTTCTTTTCTTTTCTTTTCTCTTCTCTTCTCTTCTC	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0041 a0001c0001t0011g0041	1	204	0.0049	-40	c.297 others(57): Show c.297+3617_297+3656delTTTCTTTTCTTTTCTTTTCTCTTCTCTT CTCTTCTCTTCT	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP5_chr6_55748653_55880590	55853138	TAAATAAA others(33): Show TAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00621.hp2 others(19): Show HG00423.hp1 HG00544.hp1 HG00621.hp2 HG00738.hp1 HG02071.hp1 HG02132.hp2 HG03491.hp2 HG03516.hp2 HG03710.hp1 NA18942.hp1 NA18943.hp2 NA18946.hp2 NA18952.hp1 NA18963.hp1 NA18970.hp2 NA18990.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19012.hp1 NA19056.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0019 a0001c0002t0001 a0001c0002t0015 a0001c0003t0005 a0001c0004t0001	a0001c0001t0002g0195 a0001c0001t0003g0148 a0001c0001t0003g0189 others(19): Show a0001c0001t0002g0195 a0001c0001t0003g0148 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0262 a0001c0001t0005g0295 a0001c0001t0005g0296 a0001c0001t0005g0298 a0001c0001t0005g0300 a0001c0001t0007g0283 a0001c0001t0007g0285 a0001c0001t0007g0286 a0001c0001t0007g0292 a0001c0001t0007g0294 a0001c0001t0007g0297 a0001c0001t0007g0299 a0001c0001t0007g0301 a0001c0001t0019g0188 a0001c0002t0001g0123 a0001c0002t0015g0019 a0001c0003t0005g0293 a0001c0004t0001g0127	22	320	0.0688	-40	c.490 others(59): Show c.490+21198_490+21237delTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTT	BMP5	ENSG00000112175.8	transcript	ENST00000370830.4	protein_coding	1/6			chr6	TogoVar
BNC2_chr9_16404503_16875670	16539750	GAAGGAAA others(33): Show GAAGGAAAGGAAAGGAAAAGAAAGGAAAGGAAAGGAAAGGA	G G	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0165 a0001c0001t0040g0165	1	176	0.0057	-40	c.669 others(59): Show c.669+12740_669+12779delTCCTTTCCTTTCCTTTCCTTTCTTTT CCTTTCCTTTCCTT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	5/6			chr9	TogoVar
BNIP5_chr6_36310761_36341888	36324575	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01074.hp1 HG01192.hp1 others(4): Show HG00323.hp2 HG01074.hp1 HG01192.hp1 HG02723.hp1 NA18995.hp2 NA19080.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0002 a0002c0005t0005 a0001c0001t0001 a0002c0005t0002 a0002c0005t0005	a0001c0001t0001g0116 a0001c0001t0001g0209 a0001c0001t0001g0215 others(4): Show a0001c0001t0001g0116 a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0290 a0002c0005t0002g0075 a0002c0005t0005g0076 a0002c0005t0005g0077	7	424	0.0165	-40	c.116 others(57): Show c.1169-425_1169-386delTATATATATATATATATATATATATATA TATATATATATA	BNIP5	ENSG00000189325.7	transcript	ENST00000437635.3	protein_coding	6/11			chr6	TogoVar
BNIPL_chr1_151031586_151052720	151049766	AAGGATCT others(33): Show AAGGATCTGCCCACCTTGGCCTTCCAGAATTCTGGGATTAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	362	0.0028	-40	c.30 others(51): Show c.3080_*3119delAGGATCTGCCCACCTTGGCCTTCCAGAATTCTGG GATTAC	BNIPL	ENSG00000163141.20	transcript	ENST00000368931.8	protein_coding		2047		chr1	TogoVar
BOC_chr3_113206557_113292459	113236264	GTGTATAT others(33): Show GTGTATATATACCCATGGGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0248 a0001c0001t0040g0248	1	386	0.0026	-40	c.-81 others(59): Show c.-81-13456_-81-13417delGTATATATACCCATGGGTATATATAT ATATATATATATAT	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BPIFA2_chr20_33163159_33186412	33185411	GGGCGGAG others(33): Show GGGCGGAGACGCTCCTCACTTCCCAGACAGGGTGGCTGCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA19088.hp2 NA18954.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	2	378	0.0053	-40	c.42 others(51): Show c.4226_*4265delGGCGGAGACGCTCCTCACTTCCCAGACAGGGTGG CTGCCA	BPIFA2	ENSG00000131050.11	transcript	ENST00000354932.6	protein_coding		4000		chr20	TogoVar
BPIFB4_chr20_33074643_33116751	33115482	GTCTCTGC others(33): Show GTCTCTGCCCGGCCGCCATCCCATCTGGGAAGTGAAGAGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	344	0.0029	-40	c.40 others(51): Show c.4046_*4085delTCTCTGCCCGGCCGCCATCCCATCTGGGAAGTGA AGAGCA	BPIFB4	ENSG00000186191.9	transcript	ENST00000375483.4	protein_coding		3732		chr20	TogoVar
BPIFB4_chr20_33074643_33116751	33115614	GCCCCGTC others(33): Show GCCCCGTCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02258.hp1 HG02723.hp2 others(2): Show HG01891.hp2 HG02258.hp1 HG02723.hp2 HG02886.hp2 HG03209.hp1	a0003 a0006 a0003 a0006	a0003c0003 a0006c0005 a0003c0003 a0006c0005	a0003c0003t0001 a0006c0005t0001 a0003c0003t0001 a0006c0005t0001	a0003c0003t0001g0163 a0003c0003t0001g0165 a0006c0005t0001g0015 others(1): Show a0003c0003t0001g0163 a0003c0003t0001g0165 a0006c0005t0001g0015 a0006c0005t0001g0056	5	344	0.0145	-40	c.41 others(51): Show c.4178_*4217delCCCCGTCTGGGATGTGAGGAGCGCCTCTGCCCGG CCGAGA	BPIFB4	ENSG00000186191.9	transcript	ENST00000375483.4	protein_coding		3864		chr20	TogoVar
BPIFC_chr22_32408845_32469446	32424664	TCTTCTTC others(33): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0371 a0001c0001t0001g0371	1	422	0.0024	-40	c.121 others(59): Show c.1218-5300_1218-5261delGAAGAAGAAGAGGAAGAAGAAGAAGA AGAAGAAGAAGAAG	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPNT2_chr8_56952931_56998867	56970878	TTCATAAA others(33): Show TTCATAAAAGTAAAAAAAAATGAAGAGAACAAAACAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	356	0.0028	-40	c.647 others(57): Show c.647-4566_647-4527delTTTTTTGTTTTGTTCTCTTCATTTTTTT TTACTTTTATGA	BPNT2	ENSG00000104331.9	transcript	ENST00000262644.9	protein_coding	3/4			chr8	TogoVar
BPTF_chr17_67820503_67989378	67843191	CATCTACA others(33): Show CATCTACATACATGTAGATGTATGTAGATATATACCTATAT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01169.hp2 HG01975.hp1 others(14): Show HG01074.hp1 HG01169.hp2 HG01975.hp1 HG01981.hp1 HG02004.hp1 HG02273.hp1 HG02300.hp1 NA18950.hp2 NA18954.hp1 NA18970.hp2 NA18974.hp2 NA18989.hp1 NA18998.hp2 NA19000.hp2 NA19011.hp1 NA19060.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0016 others(1): Show a0001c0001 a0001c0015 a0001c0016 a0001c0020	a0001c0001t0001 a0001c0015t0001 a0001c0016t0001 others(1): Show a0001c0001t0001 a0001c0015t0001 a0001c0016t0001 a0001c0020t0001	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0115 others(14): Show a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0015t0001g0161 a0001c0016t0001g0076 a0001c0020t0001g0258	17	274	0.0620	-40	c.614 others(59): Show c.614-10733_614-10694delGATGTATGTAGATATATACCTATATA TCTACATACATGTA	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BRAT1_chr7_2532810_2560524	2534513	CTCCTCAC others(33): Show CTCCTCACTTCTCAGACGGGGCGGTTGCCAGGCAGAGGGTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	424	0.0024	-40	c.35 others(51): Show c.3516_*3555delAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAAG TGAGGA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding		3296		chr7	TogoVar
BRAT1_chr7_2532810_2560524	2534598	CTCCCAGA others(33): Show CTCCCAGACAGGGTTGCGGCCCAGCAGAGGCGCTCCTCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0049 a0003c0005t0002g0049	1	424	0.0024	-40	c.34 others(51): Show c.3431_*3470delTGTGAGGAGCGCCTCTGCTGGGCCGCAACCCTGT CTGGGA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding		3211		chr7	TogoVar
BRAT1_chr7_2532810_2560524	2534743	GCGCTCCT others(33): Show GCGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGCAGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG02258.hp1 HG02280.hp1 others(10): Show HG01192.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02717.hp2 HG02723.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG03041.hp1 HG03209.hp2 HG03516.hp2	a0001 a0017 a0001 a0017	a0001c0002 a0017c0028 a0001c0002 a0017c0028	a0001c0002t0001 a0017c0028t0001 a0001c0002t0001 a0017c0028t0001	a0001c0002t0001g0024 a0001c0002t0001g0303 a0001c0002t0001g0304 others(9): Show a0001c0002t0001g0024 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0326 a0001c0002t0001g0336 a0001c0002t0001g0337 a0001c0002t0001g0369 a0017c0028t0001g0325	13	424	0.0307	-40	c.32 others(51): Show c.3286_*3325delTCTCTGCCCGGCCGCCATCCCATCTAGGAAGTGA GGAGCG	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding		3066		chr7	TogoVar

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