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
BFAR_chr16_14627951_14674236	14633644	AAGAGAAT others(18): Show AAGAGAATTTTCTTTTTTTTCTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02165.hp2 HG00558.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0026 a0002c0002t0001g0026	2	317	0.0063	-25	c.-74 others(40): Show c.-74+632_-74+656delATTTTCTTTTTTTTCTTTTTAGAGA		BFAR	ENSG00000103429.11	transcript	ENST00000261658.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr16	TogoVar
BGN_chrX_153489980_153514546	153509379	TGACACCA others(18): Show TGACACCATCAACCGCCAGAGTCCCA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00544.hp1 others(64): Show HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00597.hp1 HG00639.hp1 HG01081.hp2 HG01109.hp1 HG01175.hp2 HG01255.hp1 HG01261.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG02074.hp1 HG02080.hp1 HG02135.hp1 HG02148.hp2 HG02258.hp1 HG02293.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03490.hp1 HG03654.hp1 HG03942.hp1 HG04184.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18944.hp1 NA18951.hp1 NA18954.hp1 NA18961.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18992.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19010.hp1 NA19030.hp1 NA19080.hp1 NA19085.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0014	a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 others(17): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0021 a0001c0001t0053 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0013 a0001c0002t0024 a0001c0002t0032 a0001c0002t0066 a0001c0002t0067 a0001c0002t0077 a0001c0002t0085 a0001c0003t0005 a0001c0003t0032 a0001c0003t0088 a0001c0004t0002 a0001c0014t0069	a0001c0001t0005g0057 a0001c0001t0007g0055 a0001c0001t0013g0104 others(38): Show a0001c0001t0005g0057 a0001c0001t0007g0055 a0001c0001t0013g0104 a0001c0001t0021g0017 a0001c0001t0053g0006 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0016 a0001c0002t0002g0018 a0001c0002t0002g0034 a0001c0002t0002g0106 a0001c0002t0002g0114 a0001c0002t0002g0116 a0001c0002t0002g0131 a0001c0002t0002g0160 a0001c0002t0002g0168 a0001c0002t0002g0171 a0001c0002t0002g0177 a0001c0002t0005g0088 a0001c0002t0007g0003 a0001c0002t0007g0004 a0001c0002t0007g0033 a0001c0002t0007g0113 a0001c0002t0007g0128 a0001c0002t0013g0004 a0001c0002t0013g0070 a0001c0002t0013g0127 a0001c0002t0013g0163 a0001c0002t0013g0170 a0001c0002t0024g0110 a0001c0002t0024g0111 a0001c0002t0032g0130 a0001c0002t0066g0202 a0001c0002t0067g0003 a0001c0002t0077g0058 a0001c0002t0085g0004 a0001c0003t0005g0001 a0001c0003t0032g0194 a0001c0003t0088g0001 a0001c0004t0002g0153 a0001c0014t0069g0004	67	321	0.2087	-25	c.94 others(34): Show c.941_*965delATCAACCGCCAGAGTCCCAGACACC		BGN	ENSG00000182492.16	transcript	ENST00000331595.9	protein_coding	8/8				941	INFO_REALIGN_3_PRIME	chrX	TogoVar
BICDL1_chr12_119984236_120099494	119988993	CCAGCCGC others(18): Show CCAGCCGCCTCCGCAGGCGGCGCGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	296	0.0034	-25	c.-87 others(34): Show c.-875_-851delCAGCCGCCTCCGCAGGCGGCGCGCG		BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding					242		chr12	TogoVar
BICRAL_chr6_42777052_42873556	42845195	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00735.hp2 HG01074.hp1 HG00609.hp1 HG00735.hp2 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0001c0001t0001 a0001c0001t0003 a0001c0001t0016	a0001c0001t0001g0201 a0001c0001t0003g0121 a0001c0001t0016g0136 a0001c0001t0001g0201 a0001c0001t0003g0121 a0001c0001t0016g0136	3	270	0.0111	-25	c.184 others(44): Show c.1840-6868_1840-6844delTTTTTTTTTTTTTTTTTTTTTTTTT		BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRA_chr19_47604134_47708277	47668018	TCAGGAGT others(18): Show TCAGGAGTTCAGACCAGCCTGGCTGA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02280.hp1 NA19240.hp2 HG01243.hp2 HG02280.hp1 NA19240.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0227 a0003c0004t0004g0228 a0003c0004t0004g0310 a0003c0004t0004g0227 a0003c0004t0004g0228 a0003c0004t0004g0310	3	312	0.0096	-25	c.-10 others(44): Show c.-107-2422_-107-2398delGGAGTTCAGACCAGCCTGGCTGACA		BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
BID_chr22_17729138_17779469	17756407	TTTCTCTT others(18): Show TTTCTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03579.hp1 HG02145.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0148 a0001c0001t0009g0333 a0001c0001t0009g0148 a0001c0001t0009g0333	2	362	0.0055	-25	c.-58 others(42): Show c.-58-6258_-58-6234delGAAAGAAAGAAAGAAAGAAAGAGAA		BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5						chr22	TogoVar
BIK_chr22_43105750_43134712	43123608	GCCAGGCA others(18): Show GCCAGGCATAGCTCATGCCTGTAGTC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02074.hp2 HG02080.hp1 others(3): Show HG00408.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0145 a0001c0001t0001g0013 a0001c0001t0001g0145	6	386	0.0155	-25	c.-7- others(38): Show c.-7-403_-7-379delGCATAGCTCATGCCTGTAGTCCCAG		BIK	ENSG00000100290.3	transcript	ENST00000216115.3	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr22	TogoVar
BIN2_chr12_51276038_51329174	51295576	AAATATAT others(18): Show AAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	400	0.0025	-25	c.761 others(40): Show c.761+195_761+219delATATATATATATATATATATATATT		BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	9/12						chr12	TogoVar
BIN2_chr12_51276038_51329174	51295578	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG01070.hp1 others(23): Show HG00099.hp2 HG00642.hp1 HG01070.hp1 HG01071.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01257.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01993.hp2 HG02109.hp2 HG02602.hp2 HG02723.hp2 HG02976.hp2 HG03130.hp2 HG03669.hp2 NA18906.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp2 NA18997.hp1 NA19066.hp1 NA20300.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0004 a0006c0014 a0001c0001 a0001c0004 a0006c0014	a0001c0001t0001 a0001c0004t0001 a0006c0014t0001 a0001c0001t0001 a0001c0004t0001 a0006c0014t0001	a0001c0001t0001g0014 a0001c0001t0001g0235 a0001c0001t0001g0238 others(22): Show a0001c0001t0001g0014 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0004t0001g0260 a0001c0004t0001g0288 a0001c0004t0001g0299 a0001c0004t0001g0305 a0001c0004t0001g0313 a0001c0004t0001g0316 a0006c0014t0001g0240	26	400	0.0650	-25	c.761 others(40): Show c.761+193_761+217delATATATATATATATATATATATATA		BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	9/12						chr12	TogoVar
BIRC5_chr17_78209253_78230635	78211811	GGTGCCCA others(18): Show GGTGCCCATGAGCTTTTGAAGCTCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0002 a0001c0001t0030g0002	1	432	0.0023	-25	c.-25 others(36): Show c.-2505_-2481delGTGCCCATGAGCTTTTGAAGCTCCT		BIRC5	ENSG00000089685.15	transcript	ENST00000350051.8	protein_coding					2441		chr17	TogoVar
BIRC6_chr2_32352023_32623878	32369946	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0002 a0001c0025t0002	a0001c0025t0002g0177 a0001c0025t0002g0177	1	274	0.0037	-25	c.326 others(42): Show c.326-7641_326-7617delTATATATATATATATATATATATAT		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	1/73						chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460998	CTCTCTTC others(18): Show CTCTCTTCTCTTCTCTTCTCTTCTCT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0002 a0001c0025t0002	a0001c0025t0002g0177 a0001c0025t0002g0177	1	274	0.0037	-25	c.475 others(44): Show c.4754-2152_4754-2128delCTTCTCTTCTCTTCTCTTCTCTTCT		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BLOC1S5_chr6_8008567_8069389	8037902	GCTGGGAA others(18): Show GCTGGGAAAACTGGATATCAGTATGA	G G	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	364	0.0028	-25	c.325 others(42): Show c.325+3212_325+3236delTCATACTGATATCCAGTTTTCCCAG		BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	3/4						chr6	TogoVar
BLTP3B_chr12_100032072_100147874	100145636	AGCAGGAG others(18): Show AGCAGGAGGGTTCCCTGACTTCACTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02559.hp2 HG02257.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0121 a0001c0001t0001g0122	2	188	0.0106	-25	c.-30 others(36): Show c.-3026_-3002delGAGTGAAGTCAGGGAACCCTCCTGC		BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding					2763		chr12	TogoVar
BLZF1_chr1_169363195_169393305	169393072	ACTGAGCC others(18): Show ACTGAGCCTGGGTGTATGGTCTGCAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0101 a0002c0002t0001g0101	1	366	0.0027	-25	c.58 others(36): Show c.5891_*5915delCTGAGCCTGGGTGTATGGTCTGCAT		BLZF1	ENSG00000117475.14	transcript	ENST00000367808.8	protein_coding					4768		chr1	TogoVar
BMERB1_chr16_15429588_15593259	15577643	GTTCCGGG others(18): Show GTTCCGGGGTTTTATATGTTGGCATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01261.hp2 HG02040.hp1 others(22): Show HG00323.hp2 HG01261.hp2 HG02040.hp1 HG02071.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02615.hp2 HG02717.hp1 HG02723.hp2 HG03041.hp1 HG03195.hp2 HG03209.hp2 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 NA18522.hp2 NA18964.hp2 NA19030.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0016 a0001c0001t0019	a0001c0001t0001g0255 a0001c0001t0005g0005 a0001c0001t0005g0011 others(22): Show a0001c0001t0001g0255 a0001c0001t0005g0005 a0001c0001t0005g0011 a0001c0001t0005g0078 a0001c0001t0005g0079 a0001c0001t0005g0119 a0001c0001t0005g0121 a0001c0001t0005g0124 a0001c0001t0005g0128 a0001c0001t0005g0131 a0001c0001t0005g0158 a0001c0001t0005g0289 a0001c0001t0008g0099 a0001c0001t0008g0166 a0001c0001t0008g0192 a0001c0001t0008g0270 a0001c0001t0008g0272 a0001c0001t0008g0280 a0001c0001t0009g0102 a0001c0001t0009g0123 a0001c0001t0009g0125 a0001c0001t0009g0126 a0001c0001t0009g0217 a0001c0001t0016g0040 a0001c0001t0019g0127	25	291	0.0859	-25	c.305 others(42): Show c.305-3569_305-3545delGGGGTTTTATATGTTGGCATATTCC		BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr16	TogoVar
BMP2K_chr4_78771350_78921365	78829777	TTTCTTTT others(18): Show TTTCTTTTCTTTTCTCTTCTCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02145.hp2 HG02165.hp1 others(5): Show HG00558.hp1 HG02145.hp2 HG02165.hp1 HG02559.hp1 HG02615.hp2 HG06807.hp2 NA18966.hp2 NA19064.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0006 a0002c0002 a0006c0007 a0001c0006 a0002c0002 a0006c0007	a0001c0006t0004 a0002c0002t0007 a0006c0007t0004 a0001c0006t0004 a0002c0002t0007 a0006c0007t0004	a0001c0006t0004g0045 a0001c0006t0004g0145 a0002c0002t0007g0165 others(5): Show a0001c0006t0004g0045 a0001c0006t0004g0145 a0002c0002t0007g0165 a0002c0002t0007g0173 a0002c0002t0007g0174 a0002c0002t0007g0181 a0006c0007t0004g0152 a0006c0007t0004g0156	8	204	0.0392	-25	c.297 others(42): Show c.297+3627_297+3651delTTTCTTTTCTCTTCTCTTCTCTTCT		BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP2K_chr4_78771350_78921365	78829787	TTTCTCTT others(18): Show TTTCTCTTCTCTTCTCTTCTCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0140 a0001c0001t0010g0140	1	204	0.0049	-25	c.297 others(42): Show c.297+3672_297+3696delCTTCTCTTCTCTTCTCTTCTCTTCT		BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP5_chr6_55748653_55880590	55853138	TAAATAAA others(18): Show TAAATAAAATAAAATAAAATAAAATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00609.hp1 others(31): Show HG00408.hp2 HG00558.hp2 HG00609.hp1 HG01074.hp2 HG01168.hp2 HG01192.hp1 HG01433.hp2 HG01516.hp1 HG01975.hp2 HG01981.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03831.hp2 NA18942.hp2 NA18962.hp2 NA18989.hp2 NA19005.hp1 NA19005.hp2 NA19030.hp1 NA19030.hp2 NA19083.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0012 a0003c0006 a0007c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0033 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0015 a0001c0004t0001 a0001c0008t0001 a0001c0012t0016 a0003c0006t0001 a0003c0006t0006 a0007c0015t0002	a0001c0001t0001g0217 a0001c0001t0001g0256 a0001c0001t0002g0219 others(31): Show a0001c0001t0001g0217 a0001c0001t0001g0256 a0001c0001t0002g0219 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0003g0218 a0001c0001t0013g0255 a0001c0001t0033g0312 a0001c0002t0001g0026 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0067 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0131 a0001c0002t0001g0135 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0066 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0008g0030 a0001c0002t0015g0084 a0001c0004t0001g0060 a0001c0004t0001g0068 a0001c0008t0001g0007 a0001c0012t0016g0317 a0003c0006t0001g0281 a0003c0006t0006g0280 a0007c0015t0002g0282	34	320	0.1063	-25	c.490 others(44): Show c.490+21213_490+21237delTATTTTATTTTATTTTATTTTATTT		BMP5	ENSG00000112175.8	transcript	ENST00000370830.4	protein_coding	1/6						chr6	TogoVar
BMP6_chr6_7721099_7886728	7822895	GGTTGTGT others(18): Show GGTTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp1 HG01081.hp2 others(17): Show HG00639.hp2 HG01074.hp1 HG01081.hp2 HG01256.hp1 HG01258.hp2 HG01516.hp1 HG02109.hp1 HG02145.hp1 HG02970.hp2 HG03017.hp2 HG03195.hp2 HG03490.hp2 HG03579.hp2 HG03654.hp2 HG04199.hp2 NA18906.hp1 NA19030.hp2 NA19043.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0010 a0002c0003 others(3): Show a0001c0001 a0001c0010 a0002c0003 a0002c0015 a0003c0005 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0040 a0001c0010t0003 a0002c0003t0005 a0002c0003t0012 a0002c0015t0003 a0003c0005t0004 a0004c0007t0003	a0001c0001t0001g0151 a0001c0001t0003g0146 a0001c0001t0005g0075 others(17): Show a0001c0001t0001g0151 a0001c0001t0003g0146 a0001c0001t0005g0075 a0001c0001t0011g0046 a0001c0001t0011g0048 a0001c0001t0012g0034 a0001c0001t0012g0192 a0001c0001t0017g0081 a0001c0001t0040g0085 a0001c0010t0003g0089 a0001c0010t0003g0104 a0001c0010t0003g0106 a0002c0003t0005g0250 a0002c0003t0005g0255 a0002c0003t0005g0282 a0002c0003t0005g0302 a0002c0003t0012g0232 a0002c0015t0003g0262 a0003c0005t0004g0012 a0004c0007t0003g0079	20	308	0.0649	-25	c.665 others(44): Show c.665-22242_665-22218delTGTGTGTGTGTGTGTGTGTGTGTGT		BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
BMPR1B_chr4_94752955_95163448	94962063	TTTCTTTT others(18): Show TTTCTTTTCTTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0017 a0001c0001t0005g0017	1	226	0.0044	-25	c.-11 others(46): Show c.-112-33973_-112-33949delTTTTCTTTCCTTCCTTCCTTCCTT C		BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR2_chr2_202371327_202572749	202492712	AAAAAAAA others(18): Show AAAAAAAAAAAACCAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0006 a0002c0003t0001g0006	1	224	0.0045	-25	c.419 others(44): Show c.419-21001_419-20977delAAAAAACCAAAAAAAAAAACAAAAA		BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
BMS1_chr10_42777795_42839937	42779045	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp2 NA20805.hp1 NA18961.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0001 a0001c0003t0001 a0002c0001t0001	a0001c0003t0001g0032 a0002c0001t0001g0231 a0001c0003t0001g0032 a0002c0001t0001g0231	2	388	0.0052	-25	c.-38 others(36): Show c.-3818_-3794delAAAAAAAAAAAAAAAAAAAAAAAAA		BMS1	ENSG00000165733.8	transcript	ENST00000374518.6	protein_coding					3749		chr10	TogoVar
BNC2_chr9_16404503_16875670	16539750	GAAGGAAA others(18): Show GAAGGAAAGGAAAGGAAAAGAAAGGA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01433.hp2 HG01891.hp2 others(11): Show HG01106.hp2 HG01433.hp2 HG01891.hp2 HG02738.hp1 HG03540.hp2 HG04184.hp1 NA18943.hp1 NA18948.hp1 NA18950.hp2 NA18954.hp2 NA18982.hp1 NA18986.hp1 NA19003.hp1 NA19005.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0008 a0011c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0011 a0001c0001t0018 a0001c0001t0023 a0001c0001t0046 a0001c0001t0062 a0001c0002t0094 a0002c0003t0001 a0003c0008t0100 a0011c0019t0076	a0001c0001t0001g0053 a0001c0001t0001g0141 a0001c0001t0002g0112 others(11): Show a0001c0001t0001g0053 a0001c0001t0001g0141 a0001c0001t0002g0112 a0001c0001t0002g0169 a0001c0001t0010g0146 a0001c0001t0011g0106 a0001c0001t0018g0095 a0001c0001t0023g0084 a0001c0001t0046g0007 a0001c0001t0062g0020 a0001c0002t0094g0168 a0002c0003t0001g0090 a0003c0008t0100g0072 a0011c0019t0076g0003	14	176	0.0796	-25	c.669 others(44): Show c.669+12755_669+12779delTCCTTTCTTTTCCTTTCCTTTCCTT		BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	5/6						chr9	TogoVar
BNC2_chr9_16404503_16875670	16539768	AGAAAGGA others(18): Show AGAAAGGAAAGGAAAGGAAAGGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0026 a0005c0006t0026	a0005c0006t0026g0049 a0005c0006t0026g0049	1	176	0.0057	-25	c.669 others(44): Show c.669+12737_669+12761delCTTTCCTTTCCTTTCCTTTCCTTTC		BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	5/6						chr9	TogoVar
BNC2_chr9_16404503_16875670	16614958	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp2 HG02735.hp2 others(1): Show HG02015.hp1 HG02015.hp2 HG02735.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0047 others(1): Show a0001c0001t0001 a0001c0001t0021 a0001c0001t0047 a0001c0001t0088	a0001c0001t0001g0044 a0001c0001t0021g0134 a0001c0001t0047g0151 others(1): Show a0001c0001t0001g0044 a0001c0001t0021g0134 a0001c0001t0047g0151 a0001c0001t0088g0093	4	176	0.0227	-25	c.331 others(44): Show c.331-31898_331-31874delTTTTTTTTTTTTTTTTTTTTTTTTT		BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6						chr9	TogoVar
BORCS8_chr19_19171906_19197152	19177689	GAAGGAAG others(18): Show GAAGGAAGAGAAAAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02451.hp2 HG02647.hp1 others(5): Show HG02074.hp2 HG02451.hp2 HG02647.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 NA19010.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0262 a0001c0001t0002g0269 others(3): Show a0001c0001t0002g0023 a0001c0001t0002g0262 a0001c0001t0002g0269 a0001c0001t0002g0277 a0001c0001t0002g0318 a0001c0001t0002g0324	8	428	0.0187	-25	c.43 others(40): Show c.43-254_*43-230delTCTTTTCTTTTCTTTTCTCTTCCTT		BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5						chr19	TogoVar
BPIFC_chr22_32408845_32469446	32424597	TCTTCTCC others(18): Show TCTTCTCCTCCTCCTCCTCCTCCTCC	T T	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0083 a0004c0004t0002g0083	1	422	0.0024	-25	c.121 others(44): Show c.1218-5218_1218-5194delGGAGGAGGAGGAGGAGGAGGAGAAG		BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16						chr22	TogoVar
BRD3OS_chr9_134020481_134036587	134026932	TGGTCCGA others(18): Show TGGTCCGAGACAAAAACAAGCTCGAG	T T	frameshift_variant frameshift_variant	HIGH	NA19003.hp2 NA19003.hp2	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0022 a0000c0002t0022	a0000c0002t0022g0002 a0000c0002t0022g0002	1	334	0.0030	-25	c.187 others(32): Show c.187_211delGTCCGAGACAAAAACAAGCTCGAGG	p.Val others(4): Show p.Val63fs	BRD3OS	ENSG00000235106.10	transcript	ENST00000603928.3	protein_coding	3/3	1029/5682	187/255	63/84		INFO_REALIGN_3_PRIME	chr9	TogoVar
BRD3_chr9_134025305_134073026	134026932	TGGTCCGA others(18): Show TGGTCCGAGACAAAAACAAGCTCGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0046 a0001c0001t0012g0046	1	334	0.0030	-25	c.66 others(36): Show c.6633_*6657delCTCGAGCTTGTTTTTGTCTCGGACC		BRD3	ENSG00000169925.17	transcript	ENST00000303407.12	protein_coding					3372		chr9	TogoVar
BRD9_chr5_858741_897801	893131	CGCCCCGA others(18): Show CGCCCCGACCCCAGCGCGTGCACCGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	364	0.0028	-25	c.-49 others(34): Show c.-499_-475delTCGGTGCACGCGCTGGGGTCGGGGC		BRD9	ENSG00000028310.18	transcript	ENST00000467963.6	protein_coding					331		chr5	TogoVar
BRF1_chr14_105204286_105306001	105214476	GTGGCTCA others(18): Show GTGGCTCAGCTGCCCACACCCCTGCA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01175.hp1 HG01175.hp2 others(26): Show HG00639.hp1 HG01175.hp1 HG01175.hp2 HG01891.hp1 HG01928.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02818.hp2 HG02970.hp1 HG03098.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp2 NA18906.hp1 NA19043.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011	a0001c0001t0001g0011 a0001c0001t0001g0043 a0001c0001t0001g0051 others(26): Show a0001c0001t0001g0011 a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0024 a0001c0001t0002g0028 a0001c0001t0002g0035 a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0059 a0001c0001t0002g0068 a0001c0001t0003g0062 a0001c0001t0003g0065 a0001c0001t0006g0063 a0001c0001t0006g0064 a0001c0001t0007g0071 a0001c0001t0008g0070 a0001c0001t0010g0002 a0001c0001t0011g0027	29	72	0.4028	-25	c.177 others(44): Show c.1773-2337_1773-2313delTGCAGGGGTGTGGGCAGCTGAGCCA		BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	15/17						chr14	TogoVar
BRF1_chr14_105204286_105306001	105248576	GGCGGGCG others(18): Show GGCGGGCGGGCGGGACGGCGCCCCCC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	72	0.0139	-25	c.544 others(42): Show c.544+3906_544+3930delGGGGGGCGCCGTCCCGCCCGCCCGC		BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	5/17						chr14	TogoVar
BRINP2_chr1_177165958_177287422	177226860	GTGGCCCC others(18): Show GTGGCCCCCATAAGCAGTTCACCATA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02723.hp1 others(3): Show HG01070.hp2 HG01071.hp2 HG02723.hp1 HG03225.hp1 NA19030.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0012 a0001c0004t0004 a0002c0003t0004 others(1): Show a0001c0001t0012 a0001c0004t0004 a0002c0003t0004 a0002c0003t0015	a0001c0001t0012g0024 a0001c0004t0004g0228 a0001c0004t0004g0230 others(3): Show a0001c0001t0012g0024 a0001c0004t0004g0228 a0001c0004t0004g0230 a0002c0003t0004g0169 a0002c0003t0004g0231 a0002c0003t0015g0176	6	252	0.0238	-25	c.-76 others(42): Show c.-76-2936_-76-2912delCCCCATAAGCAGTTCACCATATGGC		BRINP2	ENSG00000198797.7	transcript	ENST00000361539.5	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
BRINP3_chr1_190092658_190482864	190405468	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	240	0.0042	-25	c.236 others(44): Show c.236+49162_236+49186delGTTTTTTTTTTTTTTTTTTTTTTTT		BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	2/7						chr1	TogoVar
BRIP1_chr17_61674139_61868528	61765396	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	266	0.0038	-25	c.209 others(46): Show c.2097+10980_2097+11004delTATATATATATATATATATATATA T		BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	14/19						chr17	TogoVar
BRIP1_chr17_61674139_61868528	61765398	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0181 a0001c0001t0006g0181	1	266	0.0038	-25	c.209 others(46): Show c.2097+10978_2097+11002delTATATATATATATATATATATATA T		BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	14/19						chr17	TogoVar
BRSK2_chr11_1384934_1467689	1456402	AAGGCCAC others(18): Show AAGGCCACGGGGGGGCCAGCCGTGTT	A A	frameshift_variant frameshift_variant	HIGH	NA18953.hp2 NA18953.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0004 a0007c0013t0004	a0007c0013t0004g0065 a0007c0013t0004g0065	1	360	0.0028	-25	c.172 others(34): Show c.1724_1748delAGGCCACGGGGGGGCCAGCCGTGTT	p.Lys others(5): Show p.Lys575fs	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	17/20	2075/4528	1724/2211	575/736			chr11	TogoVar
BRWD1_chr21_39180482_39318632	39241473	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03471.hp2 HG02145.hp2 HG03471.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0002 a0004c0003t0029 a0001c0001t0002 a0004c0003t0029	a0001c0001t0002g0062 a0004c0003t0029g0015 a0001c0001t0002g0062 a0004c0003t0029g0015	2	338	0.0059	-25	c.248 others(44): Show c.2482-2925_2482-2901delTTTTTTTTTTTTTTTTTTTTTTTTT		BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	21/40						chr21	TogoVar
BSPH1_chr19_47963046_47997170	47963893	CTTTCTTT others(18): Show CTTTCTTTTCTTTTCTTTTCTTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	444	0.0023	-25	c.42 others(36): Show c.4294_*4318delAGAAAAGAAAAGAAAAGAAAAGAAA		BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding					4152		chr19	TogoVar
BTBD19_chr1_44803523_44820585	44816381	CATAGATG others(18): Show CATAGATGTGTGTGTATATTATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02559.hp2 others(6): Show HG01884.hp1 HG02055.hp1 HG02559.hp2 HG02896.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03471.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0030 a0001c0001t0041 others(2): Show a0001c0001t0020 a0001c0001t0030 a0001c0001t0041 a0001c0001t0082 a0001c0001t0136	a0001c0001t0020g0007 a0001c0001t0030g0028 a0001c0001t0041g0007 others(2): Show a0001c0001t0020g0007 a0001c0001t0030g0028 a0001c0001t0041g0007 a0001c0001t0082g0007 a0001c0001t0136g0007	9	436	0.0206	-25	c.26 others(36): Show c.2610_*2634delATAGATGTGTGTGTATATTATATAT		BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding					797		chr1	TogoVar
BTBD1_chr15_83011423_83072252	83066697	AGCCCGGC others(18): Show AGCCCGGCCCGGCCCGGCCCGGCCCG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	328	0.0031	-25	c.401 others(38): Show c.401+29_401+53delCGGGCCGGGCCGGGCCGGGCCGGGC		BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	1/7						chr15	TogoVar
BTBD6_chr14_105243533_105256093	105248576	GGCGGGCG others(18): Show GGCGGGCGGGCGGGACGGCGCCCCCC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0016 a0003c0006t0016	a0003c0006t0016g0001 a0003c0006t0016g0001	1	278	0.0036	-25	c.-13 others(34): Show c.-131_-107delGCGGGCGGGACGGCGCCCCCCGCGG		BTBD6	ENSG00000184887.14	transcript	ENST00000392554.8	protein_coding	1/4				107	INFO_REALIGN_3_PRIME	chr14	TogoVar
BTBD9_chr6_38163451_38644929	38171861	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAATAAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02129.hp2 NA19007.hp1 HG02129.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0140 a0001c0001t0141 a0001c0001t0140 a0001c0001t0141	a0001c0001t0140g0155 a0001c0001t0141g0148 a0001c0001t0140g0155 a0001c0001t0141g0148	2	224	0.0089	-25	c.30 others(36): Show c.3099_*3123delATTATTTTTTTTTTTTTTTTTTTTT		BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	11/11				3099		chr6	TogoVar
BTF3_chr5_73493442_73510667	73508029	TATACATA others(18): Show TATACATATATATACACATATAATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0068 a0001c0002t0003g0068	1	408	0.0025	-25	c.27 others(36): Show c.2792_*2816delATACATATATATACACATATAATAC		BTF3	ENSG00000145741.17	transcript	ENST00000380591.8	protein_coding					2363		chr5	TogoVar
BTRC_chr10_101349165_101562313	101415486	TTTATGTT others(18): Show TTTATGTTATGTTATGTTATGTTATG	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02886.hp1 HG03540.hp2 others(3): Show HG02257.hp2 HG02886.hp1 HG03540.hp2 HG03654.hp1 NA19043.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0091 a0001c0001t0003g0258 a0001c0001t0004g0016 others(3): Show a0001c0001t0001g0091 a0001c0001t0003g0258 a0001c0001t0004g0016 a0001c0001t0004g0221 a0001c0001t0004g0230 a0001c0001t0004g0254	6	266	0.0226	-25	c.49- others(42): Show c.49-14814_49-14790delGTTATGTTATGTTATGTTATGTTAT		BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
BUB1B_chr15_40156069_40226123	40172071	TAAGAAAT others(18): Show TAAGAAATAAATTTCTTACTAAAATA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0292 a0007c0010t0001g0292	1	352	0.0028	-25	c.384 others(42): Show c.384+1419_384+1443delAAATAAATTTCTTACTAAAATAAAG		BUB1B	ENSG00000156970.13	transcript	ENST00000287598.11	protein_coding	4/22					INFO_REALIGN_3_PRIME	chr15	TogoVar
C10orf90_chr10_126419997_126675693	126477076	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	218	0.0046	-25	c.153 others(46): Show c.1535-12115_1535-12091delAAAAAAAAAAAAAAAAAAAAAAAA A		C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	4/9						chr10	TogoVar
C11orf65_chr11_108377755_108472529	108408709	AAAATAAA others(18): Show AAAATAAAATAAAATAAAATAAAATG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02257.hp1 HG02922.hp2 others(1): Show HG01175.hp1 HG02257.hp1 HG02922.hp2 HG03453.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0002 a0004c0007t0002 a0001c0001t0002 a0004c0007t0002	a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 others(1): Show a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0004c0007t0002g0055	4	330	0.0121	-25	c.175 others(42): Show c.175-1585_175-1561delCATTTTATTTTATTTTATTTTATTT		C11orf65	ENSG00000166323.13	transcript	ENST00000393084.6	protein_coding	3/8						chr11	TogoVar
C11orf98_chr11_62657817_62670210	62665952	GAGGTGGG others(18): Show GAGGTGGGGGCAGAGTGGAGAGGGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	382	0.0026	-25	c.-80 others(34): Show c.-808_-784delTGCCCTCTCCACTCTGCCCCCACCT		C11orf98	ENSG00000278615.5	transcript	ENST00000524958.6	protein_coding					743		chr11	TogoVar

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