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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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	chr	external
B3GALT2_chr1_193173730_193191613	193186294	T T	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0051 a0001c0001t0019g0051	1	398	0.0025	c.-39 others(4): Show c.-396A>T	B3GALT2	ENSG00000162630.6	transcript	ENST00000367434.5	protein_coding	1/2	chr1	TogoVar
B3GALT9_chr9_120788467_120806787	120793524	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02572.hp1 HG03209.hp1 HG02572.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0032 a0002c0002t0014g0032	2	404	0.0050	c.-58 others(4): Show c.-580G>A	B3GALT9	ENSG00000214654.9	transcript	ENST00000689072.1	protein_coding	1/3	chr9	TogoVar
B3GALT9_chr9_120788467_120806787	120793557	G G	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00408.hp1 HG00621.hp2 HG01256.hp1 others(50): Show HG00408.hp1 HG00621.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02083.hp1 HG02155.hp1 HG02273.hp1 HG02293.hp1 HG02523.hp1 HG02523.hp2 HG03654.hp1 NA18939.hp1 NA18940.hp1 NA18943.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp2 NA18960.hp2 NA18965.hp2 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18989.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19064.hp2 NA19066.hp1 NA19077.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19087.hp1 NA19090.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0019 others(2): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0019 a0001c0001t0029 a0001c0001t0030	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0004 others(11): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0019 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0046 a0001c0001t0002g0054 a0001c0001t0013g0001 a0001c0001t0019g0001 a0001c0001t0029g0001 a0001c0001t0030g0006	53	404	0.1312	c.-54 others(4): Show c.-547G>T	B3GALT9	ENSG00000214654.9	transcript	ENST00000689072.1	protein_coding	1/3	chr9	TogoVar
B3GALT9_chr9_120788467_120806787	120793561	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02965.hp2 HG02970.hp1 HG03041.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0033 a0001c0001t0012g0061 a0001c0001t0012g0033 a0001c0001t0012g0061	3	404	0.0074	c.-54 others(4): Show c.-543C>T	B3GALT9	ENSG00000214654.9	transcript	ENST00000689072.1	protein_coding	1/3	chr9	TogoVar
B3GAT2_chr6_70851679_70962060	70956937	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0102	a0001c0001t0102g0303 a0001c0001t0102g0303	1	316	0.0032	c.-50 others(4): Show c.-508G>T	B3GAT2	ENSG00000112309.11	transcript	ENST00000230053.11	protein_coding	1/4	chr6	TogoVar
B3GAT2_chr6_70851679_70962060	70957039	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02071.hp1 NA18955.hp1 NA18964.hp2 others(2): Show HG02071.hp1 NA18955.hp1 NA18964.hp2 NA19006.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 others(2): Show a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111	a0001c0001t0107g0312 a0001c0001t0108g0313 a0001c0001t0109g0310 others(2): Show a0001c0001t0107g0312 a0001c0001t0108g0313 a0001c0001t0109g0310 a0001c0001t0110g0311 a0001c0001t0111g0314	5	316	0.0158	c.-61 others(4): Show c.-610C>G	B3GAT2	ENSG00000112309.11	transcript	ENST00000230053.11	protein_coding	1/4	chr6	TogoVar
B3GNT3_chr19_17790138_17818576	17807783	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0138 a0001c0001t0038g0138	1	406	0.0025	c.-25 others(3): Show c.-25C>T	B3GNT3	ENSG00000179913.11	transcript	ENST00000318683.7	protein_coding	2/3	chr19	TogoVar
B3GNT5_chr3_183248253_183278385	183253427	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00597.hp2 HG00609.hp2 HG02027.hp2 others(2): Show HG00597.hp2 HG00609.hp2 HG02027.hp2 HG02523.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0007 a0001c0001t0006g0001 a0001c0001t0006g0007	5	390	0.0128	c.-34 others(4): Show c.-347G>C	B3GNT5	ENSG00000176597.12	transcript	ENST00000326505.4	protein_coding	1/2	chr3	TogoVar
B3GNT5_chr3_183248253_183278385	183253468	T T	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01069.hp1 HG01071.hp1 HG01175.hp2 HG01069.hp1 HG01071.hp1 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0022 a0001c0001t0008g0181 a0001c0001t0008g0022 a0001c0001t0008g0181	3	390	0.0077	c.-30 others(4): Show c.-306T>G	B3GNT5	ENSG00000176597.12	transcript	ENST00000326505.4	protein_coding	1/2	chr3	TogoVar
B3GNT6_chr11_77029398_77046973	77034399	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01074.hp2 HG02630.hp1 HG03098.hp1 HG01074.hp2 HG02630.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0016 a0001c0001t0013g0016	3	442	0.0068	c.-80 others(3): Show c.-80G>C	B3GNT6	ENSG00000198488.10	transcript	ENST00000622824.1	protein_coding	1/2	chr11	TogoVar
B3GNT8_chr19_41420359_41432374	41427310	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0033 a0001c0003t0009g0033	1	420	0.0024	c.-59 others(3): Show c.-59C>T	B3GNT8	ENSG00000177191.3	transcript	ENST00000691102.1	protein_coding	1/2	chr19	TogoVar
B3GNT9_chr16_67143104_67155998	67150909	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18992.hp1 NA19077.hp1 NA18992.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0009 a0001c0001t0008g0009	2	342	0.0059	c.-23 others(4): Show c.-231C>T	B3GNT9	ENSG00000237172.4	transcript	ENST00000449549.4	protein_coding	1/2	chr16	TogoVar
B3GNT9_chr16_67143104_67155998	67150964	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02257.hp2 HG03139.hp1 HG03540.hp1 HG02257.hp2 HG03139.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0003 a0001c0003t0003g0003	3	342	0.0088	c.-28 others(4): Show c.-286C>T	B3GNT9	ENSG00000237172.4	transcript	ENST00000449549.4	protein_coding	1/2	chr16	TogoVar
B4GALT4_chr3_119206742_119245878	119230184	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02055.hp1 NA19043.hp2 HG02055.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0046 a0001c0001t0014g0046	2	436	0.0046	c.-85 others(3): Show c.-85C>T	B4GALT4	ENSG00000121578.13	transcript	ENST00000393765.7	protein_coding	3/8	chr3	TogoVar
B4GALT4_chr3_119206742_119245878	119237041	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(80): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00544.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01074.hp2 HG01099.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01261.hp1 HG01515.hp2 HG01934.hp1 HG01952.hp1 HG01981.hp2 HG02055.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02280.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03492.hp1 HG03654.hp1 HG03710.hp1 HG03927.hp2 HG04184.hp2 NA18522.hp2 NA18939.hp2 NA18952.hp1 NA18959.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18993.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19005.hp2 NA19030.hp2 NA19043.hp2 NA19065.hp1 NA19067.hp1 NA19074.hp2 NA19077.hp2 NA19088.hp2 NA19091.hp1 NA20752.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 others(5): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0003t0009 a0002c0002t0009 a0002c0002t0011 a0002c0002t0019	a0001c0001t0003g0003 a0001c0001t0003g0017 a0001c0001t0003g0018 others(49): Show a0001c0001t0003g0003 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0041 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0182 a0001c0001t0003g0185 a0001c0001t0003g0218 a0001c0001t0009g0165 a0001c0001t0013g0042 a0001c0001t0014g0046 a0001c0003t0009g0180 a0001c0003t0009g0217 a0002c0002t0009g0150 a0002c0002t0009g0151 a0002c0002t0011g0045 a0002c0002t0011g0169 a0002c0002t0019g0181	83	436	0.1904	c.-33 others(4): Show c.-334C>T	B4GALT4	ENSG00000121578.13	transcript	ENST00000393765.7	protein_coding	2/8	chr3	TogoVar
B4GALT5_chr20_49627945_49718878	49713865	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0060 a0001c0003t0060	a0001c0003t0060g0364 a0001c0003t0060g0364	1	364	0.0028	c.-17 others(4): Show c.-175C>T	B4GALT5	ENSG00000158470.5	transcript	ENST00000371711.4	protein_coding	1/9	chr20	TogoVar
B4GALT6_chr18_31617246_31689581	31684504	T T	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0283 a0001c0001t0036g0283	1	306	0.0033	c.-78 others(3): Show c.-78A>G	B4GALT6	ENSG00000118276.12	transcript	ENST00000306851.10	protein_coding	1/9	chr18	TogoVar
B4GALT6_chr18_31617246_31689581	31684540	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0284 a0001c0001t0037g0284	1	306	0.0033	c.-11 others(4): Show c.-114G>T	B4GALT6	ENSG00000118276.12	transcript	ENST00000306851.10	protein_coding	1/9	chr18	TogoVar
B9D1_chr17_19338175_19367723	19362713	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0135 a0001c0001t0008g0135	1	354	0.0028	c.-14 others(4): Show c.-144C>T	B9D1	ENSG00000108641.20	transcript	ENST00000261499.11	protein_coding	1/7	chr17	TogoVar
BAAT_chr9_101355417_101390006	101384887	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02886.hp1 HG02886.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0017 a0008c0012t0017	a0008c0012t0017g0050 a0008c0012t0017g0050	1	418	0.0024	c.-92 others(3): Show c.-92C>T	BAAT	ENSG00000136881.12	transcript	ENST00000259407.7	protein_coding	1/4	chr9	TogoVar
BACH1_chr21_29293922_29351148	29321260	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01952.hp1 HG03130.hp2 HG03579.hp1 others(1): Show HG01952.hp1 HG03130.hp2 HG03579.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0040 a0001c0002t0015g0145 a0001c0002t0015g0146 a0001c0002t0015g0040 a0001c0002t0015g0145 a0001c0002t0015g0146	4	368	0.0109	c.-21 others(3): Show c.-21C>T	BACH1	ENSG00000156273.16	transcript	ENST00000286800.8	protein_coding	2/5	chr21	TogoVar
BAIAP2L1_chr7_98286650_98406090	98401063	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0229 a0001c0001t0017g0229	1	298	0.0034	c.-21 others(4): Show c.-211C>T	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/14	chr7	TogoVar
BAIAP2_chr17_81030151_81122434	81035175	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01255.hp1 HG02451.hp2 HG02486.hp1 others(7): Show HG01255.hp1 HG02451.hp2 HG02486.hp1 HG02630.hp1 HG02630.hp2 HG02896.hp1 HG03041.hp1 HG03471.hp1 NA18522.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0018 a0001c0001t0019 a0001c0001t0044 others(5): Show a0001c0001t0018 a0001c0001t0019 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0011t0049	a0001c0001t0018g0341 a0001c0001t0018g0345 a0001c0001t0019g0342 others(7): Show a0001c0001t0018g0341 a0001c0001t0018g0345 a0001c0001t0019g0342 a0001c0001t0019g0348 a0001c0001t0044g0059 a0001c0001t0045g0351 a0001c0001t0046g0346 a0001c0001t0047g0374 a0001c0001t0048g0352 a0001c0011t0049g0347	10	376	0.0266	c.-80 others(3): Show c.-80C>T	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	1/14	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81035179	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0179 a0001c0001t0043g0179	1	376	0.0027	c.-76 others(3): Show c.-76C>T	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	1/14	chr17	TogoVar
BAK1_chr6_33567552_33585276	33580030	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0097 a0001c0001t0012g0097	1	434	0.0023	c.-37 others(3): Show c.-37C>T	BAK1	ENSG00000030110.14	transcript	ENST00000374467.4	protein_coding	1/6	chr6	TogoVar
BANP_chr16_87946434_88082316	87975086	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01257.hp1 HG01258.hp1 HG01517.hp2 others(13): Show HG01257.hp1 HG01258.hp1 HG01517.hp2 HG01934.hp1 HG02004.hp2 HG02273.hp1 NA18612.hp1 NA18941.hp2 NA18948.hp2 NA18949.hp2 NA18964.hp2 NA18985.hp1 NA19005.hp1 NA19070.hp2 NA19083.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0006 a0001c0001t0020 a0001c0014t0019 a0001c0001t0006 a0001c0001t0020 a0001c0014t0019	a0001c0001t0006g0196 a0001c0001t0006g0198 a0001c0001t0006g0239 others(13): Show a0001c0001t0006g0196 a0001c0001t0006g0198 a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0006g0244 a0001c0001t0006g0245 a0001c0001t0006g0246 a0001c0001t0006g0247 a0001c0001t0006g0263 a0001c0001t0006g0265 a0001c0001t0006g0266 a0001c0001t0006g0267 a0001c0001t0006g0268 a0001c0001t0006g0269 a0001c0001t0020g0264 a0001c0014t0019g0199	16	352	0.0455	c.-30 others(3): Show c.-30C>G	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	2/14	chr16	TogoVar
BARD1_chr2_214720646_214814683	214809652	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01081.hp2 HG02486.hp2 HG02922.hp2 HG01081.hp2 HG02486.hp2 HG02922.hp2	a0009 a0020 a0009 a0020	a0009c0011 a0020c0025 a0009c0011 a0020c0025	a0009c0011t0069 a0009c0011t0070 a0020c0025t0071 a0009c0011t0069 a0009c0011t0070 a0020c0025t0071	a0009c0011t0069g0336 a0009c0011t0070g0337 a0020c0025t0071g0338 a0009c0011t0069g0336 a0009c0011t0070g0337 a0020c0025t0071g0338	3	362	0.0083	c.-83 others(3): Show c.-83C>T	BARD1	ENSG00000138376.11	transcript	ENST00000260947.9	protein_coding	1/11	chr2	TogoVar
BARHL1_chr9_132577606_132595252	132582645	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0076 a0001c0001t0007g0076	1	472	0.0021	c.-15 others(4): Show c.-153C>G	BARHL1	ENSG00000125492.11	transcript	ENST00000263610.7	protein_coding	1/3	chr9	TogoVar
BASP1_chr5_17212631_17281834	17217790	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00738.hp1 HG01099.hp2 HG01433.hp1 others(34): Show HG00738.hp1 HG01099.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01943.hp2 HG01978.hp1 HG02165.hp1 HG02273.hp2 HG02300.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG04115.hp1 NA18944.hp1 NA18949.hp2 NA18950.hp2 NA18953.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18961.hp2 NA18969.hp2 NA18990.hp1 NA18990.hp2 NA19005.hp1 NA19009.hp1 NA19057.hp2 NA19063.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19083.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0022 others(5): Show a0001c0001t0005 a0001c0001t0011 a0001c0001t0022 a0001c0001t0028 a0001c0001t0029 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056	a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0317 others(30): Show a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0317 a0001c0001t0005g0319 a0001c0001t0005g0320 a0001c0001t0005g0324 a0001c0001t0005g0327 a0001c0001t0005g0329 a0001c0001t0005g0332 a0001c0001t0005g0333 a0001c0001t0005g0335 a0001c0001t0005g0336 a0001c0001t0005g0339 a0001c0001t0011g0020 a0001c0001t0011g0314 a0001c0001t0011g0315 a0001c0001t0011g0316 a0001c0001t0011g0323 a0001c0001t0011g0325 a0001c0001t0011g0326 a0001c0001t0011g0337 a0001c0001t0011g0343 a0001c0001t0022g0322 a0001c0001t0022g0328 a0001c0001t0022g0331 a0001c0001t0022g0334 a0001c0001t0028g0001 a0001c0001t0028g0345 a0001c0001t0029g0001 a0001c0001t0029g0321 a0001c0001t0054g0318 a0001c0001t0055g0338 a0001c0001t0056g0330	37	370	0.1000	c.-30 others(3): Show c.-30C>T	BASP1	ENSG00000176788.9	transcript	ENST00000322611.4	protein_coding	1/2	chr5	TogoVar
BATF2_chr11_64982945_65001971	64996924	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02055.hp2 HG02258.hp1 HG02280.hp2 others(6): Show HG02055.hp2 HG02258.hp1 HG02280.hp2 HG02559.hp1 HG02922.hp2 HG03225.hp1 HG03471.hp2 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0013 a0001c0001t0004g0085 a0001c0001t0004g0086	9	404	0.0223	c.-10 others(3): Show c.-10C>T	BATF2	ENSG00000168062.10	transcript	ENST00000301887.9	protein_coding	1/3	chr11	TogoVar
BAZ1A_chr14_34747731_34880360	34875300	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0380 a0001c0003t0012g0380	1	380	0.0026	c.-22 others(4): Show c.-221G>T	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	1/27	chr14	TogoVar
BAZ2A_chr12_56590596_56635326	56630152	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0026 a0001c0001t0038g0026	1	316	0.0032	c.-30 others(3): Show c.-30C>T	BAZ2A	ENSG00000076108.12	transcript	ENST00000549884.6	protein_coding	1/29	chr12	TogoVar
BAZ2A_chr12_56590596_56635326	56630177	A A	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0026 a0001c0001t0038g0026	1	316	0.0032	c.-55 others(3): Show c.-55T>A	BAZ2A	ENSG00000076108.12	transcript	ENST00000549884.6	protein_coding	1/29	chr12	TogoVar
BAZ2A_chr12_56590596_56635326	56630188	T T	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0026 a0001c0001t0038g0026	1	316	0.0032	c.-66 others(3): Show c.-66A>T	BAZ2A	ENSG00000076108.12	transcript	ENST00000549884.6	protein_coding	1/29	chr12	TogoVar
BAZ2A_chr12_56590596_56635326	56630217	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0026 a0001c0001t0038g0026	1	316	0.0032	c.-95 others(3): Show c.-95C>G	BAZ2A	ENSG00000076108.12	transcript	ENST00000549884.6	protein_coding	1/29	chr12	TogoVar
BAZ2A_chr12_56590596_56635326	56630294	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00738.hp2 HG02630.hp1 HG02896.hp1 others(3): Show HG00738.hp2 HG02630.hp1 HG02896.hp1 HG03139.hp2 HG03516.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0083 a0001c0001t0013 a0001c0001t0083	a0001c0001t0013g0265 a0001c0001t0013g0266 a0001c0001t0013g0267 others(3): Show a0001c0001t0013g0265 a0001c0001t0013g0266 a0001c0001t0013g0267 a0001c0001t0013g0268 a0001c0001t0013g0269 a0001c0001t0083g0270	6	316	0.0190	c.-17 others(4): Show c.-172C>T	BAZ2A	ENSG00000076108.12	transcript	ENST00000549884.6	protein_coding	1/29	chr12	TogoVar
BBOF1_chr14_74014349_74071092	74019376	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01109.hp2 HG03195.hp2 HG03453.hp2 others(1): Show HG01109.hp2 HG03195.hp2 HG03453.hp2 NA18906.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0006 a0005c0006t0006	a0005c0006t0006g0193 a0005c0006t0006g0194 a0005c0006t0006g0195 others(1): Show a0005c0006t0006g0193 a0005c0006t0006g0194 a0005c0006t0006g0195 a0005c0006t0006g0196	4	386	0.0104	c.-10 others(4): Show c.-103G>C	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	1/12	chr14	TogoVar
BBOX1_chr11_27035815_27132809	27041276	T T	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0235 a0001c0001t0010g0235	1	318	0.0031	c.-24 others(4): Show c.-241T>C	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	2/9	chr11	TogoVar
BBOX1_chr11_27035815_27132809	27041310	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02145.hp2 HG02615.hp1 HG02145.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0007 a0001c0001t0007 a0001c0002t0007	a0001c0001t0007g0033 a0001c0002t0007g0027 a0001c0001t0007g0033 a0001c0002t0007g0027	2	318	0.0063	c.-20 others(4): Show c.-207G>C	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	2/9	chr11	TogoVar
BBS10_chr12_76339474_76353415	76348398	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0013 a0001c0001t0009g0013	1	416	0.0024	c.-40 others(3): Show c.-40G>A	BBS10	ENSG00000179941.9	transcript	ENST00000650064.2	protein_coding	1/2	chr12	TogoVar
BBS10_chr12_76339474_76353415	76348410	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02615.hp1 HG02630.hp1 HG02895.hp2 others(11): Show HG02615.hp1 HG02630.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03225.hp2 HG03516.hp1 HG03516.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19240.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0005 a0006c0006t0005 a0001c0001t0005 a0006c0006t0005	a0001c0001t0005g0005 a0006c0006t0005g0028 a0001c0001t0005g0005 a0006c0006t0005g0028	14	416	0.0337	c.-52 others(3): Show c.-52C>T	BBS10	ENSG00000179941.9	transcript	ENST00000650064.2	protein_coding	1/2	chr12	TogoVar
BBS2_chr16_56479385_56525024	56519904	A A	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00423.hp1 HG00558.hp2 HG00673.hp2 others(45): Show HG00423.hp1 HG00558.hp2 HG00673.hp2 HG00741.hp1 HG01978.hp1 HG02083.hp2 HG02135.hp1 HG02258.hp1 HG02280.hp2 HG02602.hp2 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG04199.hp2 HG04204.hp2 NA18522.hp2 NA18943.hp2 NA18950.hp1 NA18952.hp2 NA18964.hp1 NA18969.hp2 NA18979.hp2 NA18987.hp1 NA18989.hp1 NA18994.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19066.hp2 NA19075.hp1 NA19079.hp2 NA19084.hp1 NA19086.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0007 a0002c0002 others(2): Show a0001c0001 a0001c0007 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0002 a0001c0001t0003 a0001c0007t0003 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0007t0003 a0002c0002t0002 a0003c0003t0003 a0004c0004t0002 a0004c0004t0005	a0001c0001t0002g0043 a0001c0001t0003g0280 a0001c0001t0003g0281 others(40): Show a0001c0001t0002g0043 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0007t0003g0279 a0002c0002t0002g0011 a0002c0002t0002g0020 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0003c0003t0003g0037 a0003c0003t0003g0038 a0003c0003t0003g0272 a0003c0003t0003g0273 a0003c0003t0003g0274 a0003c0003t0003g0275 a0003c0003t0003g0276 a0003c0003t0003g0277 a0003c0003t0003g0278 a0004c0004t0002g0039 a0004c0004t0002g0040 a0004c0004t0002g0063 a0004c0004t0002g0064 a0004c0004t0002g0066 a0004c0004t0002g0067 a0004c0004t0005g0065	48	398	0.1206	c.-42 others(3): Show c.-42T>G	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding	1/17	chr16	TogoVar
BBS9_chr7_33124564_33611069	33129646	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00609.hp1 HG00639.hp2 HG00642.hp2 others(39): Show HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00741.hp2 HG01074.hp1 HG01168.hp1 HG01255.hp2 HG01358.hp1 HG01517.hp1 HG01884.hp1 HG01981.hp1 HG02132.hp1 HG02165.hp1 HG02293.hp1 HG02523.hp1 HG02602.hp1 HG02615.hp1 HG02683.hp2 HG02738.hp2 HG02976.hp2 HG03017.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG04199.hp1 HG06807.hp1 NA18949.hp2 NA18955.hp1 NA18961.hp2 NA18980.hp2 NA18982.hp1 NA18995.hp2 NA19005.hp2 NA19012.hp2 NA19070.hp2 NA19090.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0011 others(1): Show a0001 a0002 a0011 a0013	a0001c0001 a0001c0025 a0002c0002 others(2): Show a0001c0001 a0001c0025 a0002c0002 a0011c0024 a0013c0019	a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 others(8): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0025t0003 a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 a0002c0002t0014 a0002c0002t0019 a0011c0024t0011 a0013c0019t0003	a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0020 others(39): Show a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0027 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0004g0007 a0001c0001t0004g0014 a0001c0001t0013g0041 a0001c0001t0013g0042 a0001c0025t0003g0030 a0002c0002t0003g0003 a0002c0002t0003g0004 a0002c0002t0003g0012 a0002c0002t0003g0018 a0002c0002t0003g0023 a0002c0002t0003g0026 a0002c0002t0003g0028 a0002c0002t0003g0031 a0002c0002t0004g0001 a0002c0002t0004g0002 a0002c0002t0004g0006 a0002c0002t0004g0008 a0002c0002t0004g0011 a0002c0002t0004g0013 a0002c0002t0004g0016 a0002c0002t0004g0019 a0002c0002t0004g0022 a0002c0002t0004g0025 a0002c0002t0004g0032 a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 a0002c0002t0011g0015 a0002c0002t0011g0017 a0002c0002t0014g0005 a0002c0002t0014g0029 a0002c0002t0019g0043 a0011c0024t0011g0024 a0013c0019t0003g0250	42	268	0.1567	c.-40 others(4): Show c.-407C>G	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	1/23	chr7	TogoVar
BBX_chr3_107517962_107816339	107526381	T T	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0035 a0001c0001t0024g0035	1	222	0.0045	c.-10 others(4): Show c.-101T>G	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/18	chr3	TogoVar
BCAR3_chr1_93556741_93686837	93681799	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02145.hp2 HG02280.hp2 HG02572.hp2 others(10): Show HG02145.hp2 HG02280.hp2 HG02572.hp2 HG02630.hp2 HG02717.hp1 HG02886.hp1 HG02965.hp1 HG03098.hp2 HG03209.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0003 a0003c0004 others(2): Show a0001c0001 a0002c0003 a0003c0004 a0004c0005 a0005c0010	a0001c0001t0002 a0002c0003t0002 a0003c0004t0002 others(3): Show a0001c0001t0002 a0002c0003t0002 a0003c0004t0002 a0004c0005t0002 a0004c0005t0006 a0005c0010t0002	a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0002g0196 others(10): Show a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0002c0003t0002g0189 a0002c0003t0002g0190 a0002c0003t0002g0191 a0002c0003t0002g0193 a0002c0003t0002g0198 a0003c0004t0002g0188 a0004c0005t0002g0194 a0004c0005t0006g0186 a0005c0010t0002g0187	13	202	0.0644	c.-21 others(4): Show c.-213C>T	BCAR3	ENSG00000137936.18	transcript	ENST00000260502.11	protein_coding	1/12	chr1	TogoVar
BCAT1_chr12_24805024_24954101	24949010	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00544.hp1 HG00558.hp1 HG00639.hp1 others(22): Show HG00544.hp1 HG00558.hp1 HG00639.hp1 HG00741.hp1 HG01081.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02074.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18957.hp2 NA18961.hp2 NA18964.hp1 NA18967.hp1 NA18969.hp2 NA18990.hp2 NA18993.hp1 NA19000.hp1 NA19002.hp1 NA19056.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0029 a0001c0001t0047 others(10): Show a0001c0001t0010 a0001c0001t0029 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0001t0133 a0001c0001t0134 a0001c0001t0135	a0001c0001t0010g0300 a0001c0001t0010g0307 a0001c0001t0010g0309 others(22): Show a0001c0001t0010g0300 a0001c0001t0010g0307 a0001c0001t0010g0309 a0001c0001t0010g0311 a0001c0001t0010g0320 a0001c0001t0010g0322 a0001c0001t0029g0304 a0001c0001t0029g0318 a0001c0001t0029g0319 a0001c0001t0047g0312 a0001c0001t0047g0313 a0001c0001t0048g0315 a0001c0001t0048g0316 a0001c0001t0049g0303 a0001c0001t0049g0321 a0001c0001t0050g0299 a0001c0001t0050g0301 a0001c0001t0051g0302 a0001c0001t0051g0310 a0001c0001t0130g0317 a0001c0001t0131g0308 a0001c0001t0132g0314 a0001c0001t0133g0305 a0001c0001t0134g0306 a0001c0001t0135g0298	25	322	0.0776	c.-78 others(3): Show c.-78G>T	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	1/11	chr12	TogoVar
BCKDK_chr16_31103386_31117791	31109187	A A	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	300	0.0033	c.-37 others(3): Show c.-37A>T	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding	2/12	chr16	TogoVar
BCL10_chr1_85260776_85281632	85276467	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01069.hp2 HG01071.hp2 HG01258.hp2 HG01069.hp2 HG01071.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0032 a0001c0001t0017g0032	3	446	0.0067	c.-11 others(4): Show c.-115C>T	BCL10	ENSG00000142867.14	transcript	ENST00000648566.1	protein_coding	1/3	chr1	TogoVar
BCL10_chr1_85260776_85281632	85276472	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00323.hp2 HG01255.hp2 HG01346.hp2 others(3): Show HG00323.hp2 HG01255.hp2 HG01346.hp2 HG01496.hp1 HG02698.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0015 a0001c0001t0014 a0001c0001t0015	a0001c0001t0014g0030 a0001c0001t0015g0044 a0001c0001t0015g0099 a0001c0001t0014g0030 a0001c0001t0015g0044 a0001c0001t0015g0099	6	446	0.0135	c.-12 others(4): Show c.-120C>T	BCL10	ENSG00000142867.14	transcript	ENST00000648566.1	protein_coding	1/3	chr1	TogoVar
BCL10_chr1_85260776_85281632	85276474	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(90): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00735.hp1 HG00738.hp1 HG01255.hp1 HG01433.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01993.hp2 HG02074.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02300.hp2 HG02523.hp1 HG02683.hp1 HG02738.hp1 HG02886.hp2 HG03041.hp1 HG03139.hp1 HG03491.hp1 HG03492.hp2 HG03688.hp1 HG03831.hp1 HG03927.hp2 HG04204.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18941.hp2 NA18944.hp2 NA18945.hp1 NA18949.hp2 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp2 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19009.hp2 NA19012.hp2 NA19055.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19090.hp1 NA19091.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0022 others(4): Show a0001c0001t0002 a0001c0001t0016 a0001c0001t0022 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035	a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0008 others(18): Show a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0014 a0001c0001t0002g0031 a0001c0001t0002g0045 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0016g0104 a0001c0001t0016g0107 a0001c0001t0016g0111 a0001c0001t0022g0046 a0001c0001t0032g0106 a0001c0001t0033g0105 a0001c0001t0034g0101 a0001c0001t0035g0108	93	446	0.2085	c.-12 others(4): Show c.-122C>G	BCL10	ENSG00000142867.14	transcript	ENST00000648566.1	protein_coding	1/3	chr1	TogoVar

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