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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
B4GALNT3_chr12_454939_568509	459904	C C	CGGGGCGG others(29): Show CGGGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0151 a0001c0010t0002g0151	1	394	0.0025	36	c.-47 others(45): Show c.-473_-472insGGGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGGGCG	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding		34		chr12	TogoVar
B4GALNT3_chr12_454939_568509	507815	T T	TCCCTGGA others(29): Show TCCCTGGAAATCCAGTAGTAGCTTGGTGGACACCTGC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00438.hp1 others(53): Show HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00733.hp1 HG00741.hp1 HG01243.hp1 HG01433.hp2 HG01517.hp1 HG01943.hp2 HG02004.hp1 HG02040.hp1 HG02071.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02293.hp1 HG02523.hp1 HG02615.hp2 HG03225.hp2 HG03490.hp2 HG03579.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18941.hp1 NA18957.hp1 NA18962.hp2 NA18966.hp2 NA18967.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18979.hp2 NA18982.hp2 NA18983.hp2 NA18994.hp2 NA19007.hp1 NA19011.hp1 NA19064.hp1 NA19065.hp1 NA19067.hp1 NA19068.hp1 NA19078.hp1 NA19079.hp2 NA19081.hp1 NA19090.hp1 NA20905.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0007 a0014 a0021 a0022	a0001c0001 a0001c0002 a0001c0010 others(9): Show a0001c0001 a0001c0002 a0001c0010 a0002c0003 a0003c0004 a0003c0049 a0004c0005 a0006c0007 a0007c0008 a0014c0022 a0021c0040 a0022c0043	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0021 a0001c0001t0035 a0001c0001t0036 a0001c0001t0042 a0001c0001t0096 a0001c0002t0001 a0001c0002t0002 a0001c0010t0002 a0002c0003t0002 a0002c0003t0004 a0002c0003t0006 a0002c0003t0012 a0003c0004t0008 a0003c0004t0016 a0003c0004t0020 a0003c0049t0002 a0004c0005t0003 a0006c0007t0067 a0007c0008t0037 a0014c0022t0010 a0021c0040t0001 a0022c0043t0004	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0069 others(53): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0069 a0001c0001t0001g0096 a0001c0001t0001g0269 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0358 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0002g0040 a0001c0001t0002g0099 a0001c0001t0002g0209 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0154 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0005g0007 a0001c0001t0005g0125 a0001c0001t0005g0326 a0001c0001t0005g0380 a0001c0001t0008g0271 a0001c0001t0008g0381 a0001c0001t0009g0117 a0001c0001t0009g0386 a0001c0001t0011g0107 a0001c0001t0012g0113 a0001c0001t0014g0104 a0001c0001t0021g0325 a0001c0001t0035g0378 a0001c0001t0036g0213 a0001c0001t0042g0367 a0001c0001t0096g0003 a0001c0002t0001g0270 a0001c0002t0001g0288 a0001c0002t0002g0379 a0001c0010t0002g0118 a0002c0003t0002g0215 a0002c0003t0004g0348 a0002c0003t0006g0046 a0002c0003t0012g0108 a0003c0004t0008g0362 a0003c0004t0016g0313 a0003c0004t0020g0189 a0003c0049t0002g0091 a0004c0005t0003g0094 a0006c0007t0067g0205 a0007c0008t0037g0114 a0014c0022t0010g0086 a0021c0040t0001g0268 a0022c0043t0004g0119	56	394	0.1421	36	c.170 others(55): Show c.170-27331_170-27296dupGCTTGGTGGACACCTGCCCCTGGAAA TCCAGTAGTA	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	545902	T T	TGAGAGGA others(29): Show TGAGAGGAGTGGGGAGGTGCGAGGAGTGGGGAGGTGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01167.hp1 HG01256.hp2 others(38): Show HG00609.hp1 HG01167.hp1 HG01256.hp2 HG01358.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01952.hp2 HG02040.hp1 HG02055.hp1 HG02257.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02630.hp2 HG02647.hp2 HG02738.hp2 HG02886.hp1 HG02922.hp2 HG03041.hp2 HG03130.hp1 HG03209.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp1 HG04204.hp1 NA18522.hp2 NA18906.hp2 NA18990.hp2 NA19084.hp1 NA19240.hp1	a0001 a0003 a0004 others(7): Show a0001 a0003 a0004 a0005 a0006 a0009 a0011 a0014 a0022 a0026	a0001c0001 a0001c0002 a0001c0044 others(9): Show a0001c0001 a0001c0002 a0001c0044 a0003c0004 a0004c0005 a0005c0006 a0006c0007 a0009c0018 a0011c0015 a0014c0022 a0022c0043 a0026c0024	a0001c0001t0035 a0001c0001t0052 a0001c0001t0055 others(29): Show a0001c0001t0035 a0001c0001t0052 a0001c0001t0055 a0001c0002t0006 a0001c0044t0001 a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0003c0004t0004 a0003c0004t0005 a0003c0004t0008 a0003c0004t0016 a0003c0004t0020 a0003c0004t0029 a0003c0004t0038 a0003c0004t0048 a0003c0004t0064 a0003c0004t0080 a0003c0004t0086 a0004c0005t0014 a0005c0006t0001 a0005c0006t0002 a0005c0006t0007 a0006c0007t0002 a0009c0018t0002 a0009c0018t0005 a0011c0015t0013 a0011c0015t0039 a0011c0015t0092 a0014c0022t0010 a0022c0043t0004 a0026c0024t0002	a0001c0001t0035g0378 a0001c0001t0052g0240 a0001c0001t0055g0181 others(38): Show a0001c0001t0035g0378 a0001c0001t0052g0240 a0001c0001t0055g0181 a0001c0002t0006g0387 a0001c0002t0006g0388 a0001c0044t0001g0383 a0003c0004t0001g0217 a0003c0004t0002g0285 a0003c0004t0002g0297 a0003c0004t0002g0305 a0003c0004t0003g0134 a0003c0004t0004g0390 a0003c0004t0005g0172 a0003c0004t0005g0173 a0003c0004t0008g0070 a0003c0004t0008g0362 a0003c0004t0016g0313 a0003c0004t0020g0189 a0003c0004t0029g0182 a0003c0004t0029g0300 a0003c0004t0038g0148 a0003c0004t0038g0284 a0003c0004t0048g0047 a0003c0004t0064g0286 a0003c0004t0080g0201 a0003c0004t0086g0302 a0004c0005t0014g0290 a0005c0006t0001g0304 a0005c0006t0002g0195 a0005c0006t0002g0198 a0005c0006t0007g0146 a0006c0007t0002g0311 a0009c0018t0002g0132 a0009c0018t0005g0170 a0011c0015t0013g0280 a0011c0015t0039g0303 a0011c0015t0092g0234 a0014c0022t0010g0086 a0014c0022t0010g0192 a0022c0043t0004g0119 a0026c0024t0002g0090	41	394	0.1041	36	c.639 others(51): Show c.639+436_639+437insAGGAGTGGGGAGGTGCGAGGAGTGGGGAGG TGAGAG	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	370003	G G	GGGCGCGG others(29): Show GGGCGCGGGGGGCGCGGGCGGCGCGGGGGGCGCGGGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01070.hp2 HG01071.hp2 others(1): Show HG00140.hp1 HG01070.hp2 HG01071.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 others(1): Show a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152	4	184	0.0217	36	c.151 others(49): Show c.151+58_151+93dupGGGCGCGGGCGGCGCGGGGGGCGCGGGCGGCG CGGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BABAM2_chr2_27885729_28343901	28026865	T T	TATATATT others(29): Show TATATATTTATATATATAGATATATAAATATATATAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	158	0.0063	36	c.495 others(53): Show c.495+1451_495+1452insTTATATATATAGATATATAAATATATAT AAATATAT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112147	T T	TTCTTTCT others(29): Show TTCTTTCTTTCTTTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	158	0.0063	36	c.571 others(55): Show c.571-17123_571-17122insCTTTCTTTCTTTCCCTCCCTCCCTCC CTCCCTCCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112147	T T	TTCTTTCT others(29): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	158	0.0063	36	c.571 others(55): Show c.571-17123_571-17122insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCCCTCCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112189	C C	CCCTTCCT others(29): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18954.hp1 HG02922.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0152 a0001c0001t0002g0038 a0001c0001t0002g0152	2	158	0.0127	36	c.571 others(55): Show c.571-17079_571-17078insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112193	C C	CCCTTCCT others(29): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	158	0.0063	36	c.571 others(55): Show c.571-17075_571-17074insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112193	C C	CCTTCCCT others(29): Show CCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	158	0.0063	36	c.571 others(55): Show c.571-17077_571-17076insTTCCCTCCCTCCCTCCCTTCCTTCCT TCCTTCCTTC	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112197	C C	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	158	0.0063	36	c.571 others(55): Show c.571-17071_571-17070insCCCTCCCTCCCTCCCTCCCTTCCTTC CTTCCTTCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112197	C C	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA19077.hp2 HG03225.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0069 a0001c0001t0001g0041 a0001c0001t0001g0069	2	158	0.0127	36	c.571 others(55): Show c.571-17071_571-17070insCCCTCCCTCCCTCCCTTCCTTCCTTC CTTCCTTCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112197	C C	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03486.hp1 HG02735.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0042 a0001c0001t0001g0025 a0001c0001t0001g0042	2	158	0.0127	36	c.571 others(55): Show c.571-17071_571-17070insCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCTTCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112197	C C	CCCTCCCT others(29): Show CCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	158	0.0063	36	c.571 others(55): Show c.571-17071_571-17070insCCCTCCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112197	C C	CCTTCCCT others(29): Show CCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03041.hp2 HG01934.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0029 a0001c0001t0002g0021 a0001c0001t0002g0029	2	158	0.0127	36	c.571 others(55): Show c.571-17073_571-17072insTTCCCTCCCTCCCTCCCTTCCTTCCT TCCTTCCTTC	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BAG3_chr10_119646380_119682819	119675883	T T	TCCTTCCT others(29): Show TCCTTCCTTCCCCCCTTCCCCTTTTCCCCCCTTCCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG00642.hp2 others(16): Show HG00099.hp1 HG00642.hp1 HG00642.hp2 HG01243.hp2 HG01981.hp1 HG02717.hp2 HG03710.hp2 HG03831.hp2 NA18943.hp1 NA18944.hp2 NA18962.hp2 NA18968.hp1 NA18970.hp2 NA18979.hp2 NA18989.hp1 NA18998.hp2 NA19064.hp1 NA19068.hp1 NA19082.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0001c0001t0005 a0003c0004t0005 a0001c0001t0003 a0001c0001t0005 a0003c0004t0005	a0001c0001t0003g0026 a0001c0001t0003g0117 a0001c0001t0003g0118 others(15): Show a0001c0001t0003g0026 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0005g0240 a0001c0001t0005g0241 a0001c0001t0005g0242 a0001c0001t0005g0294 a0003c0004t0005g0108	19	420	0.0452	36	c.910 others(51): Show c.910-571_910-570insCCCCTTCCCCTTTTCCCCCCTTCCCCCCTT CCTTCC	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BAG4_chr8_38171855_38218301	38195874	T T	TTCACCTT others(29): Show TTCACCTTTTTCGACACTTCTGACCCATCACCTCCCA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	306	0.0033	36	c.378 others(53): Show c.378+3079_378+3080insTCACCTTTTTCGACACTTCTGACCCATC ACCTCCCA	BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	2/4			chr8	TogoVar
BAHCC1_chr17_81390457_81471331	81425221	T T	TTGGTGAT others(29): Show TTGGTGATGATGGTGGGTGATGTGGTTGGGGGTGATG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02723.hp2 HG00639.hp1 HG02723.hp2	a0002 a0015 a0002 a0015	a0002c0001 a0015c0014 a0002c0001 a0015c0014	a0002c0001t0001 a0015c0014t0001 a0002c0001t0001 a0015c0014t0001	a0002c0001t0001g0276 a0015c0014t0001g0243 a0002c0001t0001g0276 a0015c0014t0001g0243	2	332	0.0060	36	c.179 others(53): Show c.179-1574_179-1573insATGATGGTGGGTGATGTGGTTGGGGGTG ATGTGGTG	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0190 a0001c0002t0001g0190	1	298	0.0034	36	c.128 others(53): Show c.128-1893_128-1892insATATATATATATATATATATATTTTTTT TTTTTTTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	298	0.0034	36	c.128 others(53): Show c.128-1893_128-1892insATATATATATATATATATATATATTTTT TTTTTTTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BANK1_chr4_101785730_102079812	101947309	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0003	a0005c0006t0003g0265 a0005c0006t0003g0265	1	284	0.0035	36	c.120 others(57): Show c.1206+29123_1206+29124insATATATATATATATATATATATAT ATATATATGTAT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	102007144	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0232 a0004c0009t0001g0232	1	284	0.0035	36	c.120 others(57): Show c.1207-14369_1207-14368insATATATATATATATATATATATAT ATATATATATAT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BARHL2_chr1_90706539_90722302	90709236	G G	GAAGAAAG others(29): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp2 NA19066.hp2 NA18981.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0018 a0001c0001t0002g0010 a0001c0001t0001g0018 a0001c0001t0002g0010	2	446	0.0045	36	c.30 others(47): Show c.3075_*3076insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TT	BARHL2	ENSG00000143032.8	transcript	ENST00000370445.5	protein_coding		2302		chr1	TogoVar
BARHL2_chr1_90706539_90722302	90719504	G G	GAAAAAAA others(29): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	446	0.0022	36	c.-23 others(47): Show c.-2310_-2309insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	BARHL2	ENSG00000143032.8	transcript	ENST00000370445.5	protein_coding		2203		chr1	TogoVar
BATF_chr14_75517469_75551992	75547205	C C	CCTTCTCC others(29): Show CCTTCTCCTCCTCCTTCTCCTCCTTCTCCTTCTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00438.hp2 others(101): Show HG00280.hp1 HG00323.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02129.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02572.hp1 HG02602.hp1 HG02647.hp2 HG02698.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03239.hp2 HG03471.hp1 HG03579.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18951.hp2 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18984.hp2 NA18989.hp2 NA18992.hp2 NA18998.hp2 NA19001.hp2 NA19003.hp1 NA19005.hp2 NA19009.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19068.hp1 NA19076.hp1 NA19079.hp2 NA19085.hp1 NA19240.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(83): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0267 a0001c0001t0001g0276 a0001c0001t0003g0018 a0001c0001t0005g0251 a0001c0001t0007g0069 a0001c0002t0001g0038 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0084 a0001c0002t0001g0110 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0128 a0001c0002t0001g0133 a0001c0002t0001g0231	104	376	0.2766	36	c.53 others(45): Show c.534_*535insCTTCTCCTCCTCCTTCTCCTCCTTCTCCTTCTCCTT	BATF	ENSG00000156127.8	transcript	ENST00000286639.8	protein_coding		214		chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34784367	C C	CCAAAAAA others(29): Show CCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0030 a0001c0004t0004g0030	1	380	0.0026	36	c.183 others(53): Show c.1832-441_1832-440insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTG	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	14/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832211	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp2 HG03942.hp1 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0005 a0001c0002t0003 a0001c0003t0005	a0001c0002t0003g0145 a0001c0003t0005g0192 a0001c0002t0003g0145 a0001c0003t0005g0192	2	380	0.0053	36	c.393 others(53): Show c.393-6056_393-6055insATATATATATATATATATATATATATAT ATATATAT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832213	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0186 a0001c0002t0003g0186	1	380	0.0026	36	c.393 others(53): Show c.393-6058_393-6057insATATATATATATATATATATATATATAT ATATATAT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(29): Show CACACACACACACACACACACATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0096 a0001c0002t0002g0096	1	380	0.0026	36	c.393 others(53): Show c.393-6060_393-6059insATATATATATATATATGTGTGTGTGTGT GTGTGTGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(29): Show CACACACACACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0363 a0001c0004t0004g0363	1	380	0.0026	36	c.393 others(53): Show c.393-6060_393-6059insATATATATATATATATATATATATATGT GTGTGTGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(29): Show CACACACACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG04115.hp2 HG02735.hp2 HG04115.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0014 a0001c0004 a0003c0014	a0001c0004t0004 a0003c0014t0004 a0001c0004t0004 a0003c0014t0004	a0001c0004t0004g0355 a0003c0014t0004g0357 a0001c0004t0004g0355 a0003c0014t0004g0357	2	380	0.0053	36	c.393 others(53): Show c.393-6060_393-6059insATATATATATATATATATATATATATAT GTGTGTGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(29): Show CACACACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01346.hp1 HG01257.hp1 HG01346.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0006 a0001c0004 a0002c0006	a0001c0004t0004 a0002c0006t0007 a0001c0004t0004 a0002c0006t0007	a0001c0004t0004g0352 a0002c0006t0007g0056 a0001c0004t0004g0352 a0002c0006t0007g0056	2	380	0.0053	36	c.393 others(53): Show c.393-6060_393-6059insATATATATATATATATATATATATATAT ATGTGTGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BBS9_chr7_33124564_33611069	33536676	G G	GGCCTTCC others(29): Show GGCCTTCCCCCCGCCCCCCGCCTTCCCCCCGCCCCCC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0060 a0003c0003t0001g0060	1	268	0.0037	36	c.252 others(55): Show c.2521+2522_2521+2523insTCCCCCCGCCCCCCGCCTTCCCCCCG CCCCCCGCCT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33536681	T T	TCCCCCCG others(29): Show TCCCCCCGCCCCCCGCCTTCCCCCCGCCCCCCACCTC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03471.hp1 NA18522.hp2 others(1): Show HG02615.hp2 HG03471.hp1 NA18522.hp2 NA19240.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0013 a0005c0012 a0001c0001 a0001c0013 a0005c0012	a0001c0001t0001 a0001c0001t0010 a0001c0013t0010 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0013t0010 a0005c0012t0007	a0001c0001t0001g0126 a0001c0001t0010g0117 a0001c0013t0010g0260 others(1): Show a0001c0001t0001g0126 a0001c0001t0010g0117 a0001c0013t0010g0260 a0005c0012t0007g0235	4	268	0.0149	36	c.252 others(55): Show c.2521+2522_2521+2523insTCCCCCCGCCCCCCACCTCCCCCCCG CCCCCCGCCT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33536681	T T	TCCCCCCG others(29): Show TCCCCCCGCCCCCCGCCTTCCCCCCGCCCCCCGCCTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00733.hp1 others(30): Show HG00280.hp1 HG00280.hp2 HG00733.hp1 HG00741.hp1 HG01243.hp1 HG01358.hp2 HG01891.hp1 HG01975.hp2 HG02015.hp2 HG02056.hp1 HG02615.hp1 HG02630.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03130.hp2 HG03209.hp1 HG03453.hp2 HG03516.hp2 HG03834.hp1 HG06807.hp2 NA18522.hp1 NA18955.hp2 NA18959.hp1 NA19012.hp1 NA19043.hp1 NA19240.hp1 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0009 a0001c0021 others(4): Show a0001c0001 a0001c0009 a0001c0021 a0002c0002 a0003c0003 a0005c0011 a0006c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0009t0001 a0001c0021t0001 a0002c0002t0001 a0003c0003t0001 a0005c0011t0001 a0006c0005t0001	a0001c0001t0001g0083 a0001c0001t0001g0108 a0001c0001t0001g0109 others(30): Show a0001c0001t0001g0083 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0124 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0145 a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0200 a0001c0001t0001g0254 a0001c0001t0001g0263 a0001c0001t0002g0199 a0001c0001t0002g0247 a0001c0001t0002g0258 a0001c0001t0003g0037 a0001c0001t0010g0170 a0001c0009t0001g0240 a0001c0009t0001g0241 a0001c0021t0001g0251 a0002c0002t0001g0137 a0002c0002t0001g0196 a0002c0002t0001g0197 a0003c0003t0001g0047 a0003c0003t0001g0146 a0003c0003t0001g0205 a0003c0003t0001g0207 a0003c0003t0001g0208 a0005c0011t0001g0236 a0005c0011t0001g0238 a0006c0005t0001g0140 a0006c0005t0001g0180	33	268	0.1231	36	c.252 others(55): Show c.2521+2522_2521+2523insTCCCCCCGCCCCCCGCCTCCCCCCCG CCCCCCGCCT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33536681	T T	TCCCCCCG others(29): Show TCCCCCCGCCCCCTGCCTTCCCCCCGCCCCCCGCCTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00558.hp2 others(29): Show HG00140.hp2 HG00423.hp1 HG00558.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01081.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG02055.hp1 HG02258.hp1 HG02486.hp2 HG02698.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03471.hp2 NA18906.hp1 NA18942.hp1 NA18949.hp2 NA18954.hp2 NA18960.hp1 NA18961.hp2 NA19000.hp1 NA19010.hp1 NA19012.hp2 NA19054.hp1 NA19056.hp2 NA19063.hp1 NA19090.hp1 NA20300.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0012 a0001c0001 a0002c0002 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0002c0002t0003 a0005c0012t0015	a0001c0001t0001g0045 a0001c0001t0001g0062 a0001c0001t0001g0113 others(29): Show a0001c0001t0001g0045 a0001c0001t0001g0062 a0001c0001t0001g0113 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0217 a0001c0001t0001g0230 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0002g0098 a0001c0001t0003g0010 a0001c0001t0003g0027 a0001c0001t0008g0210 a0001c0001t0008g0233 a0001c0001t0012g0212 a0001c0001t0012g0213 a0001c0001t0013g0042 a0001c0001t0018g0171 a0002c0002t0003g0003 a0002c0002t0003g0028 a0002c0002t0003g0031 a0005c0012t0015g0237	32	268	0.1194	36	c.252 others(55): Show c.2521+2517_2521+2518insTGCCTTCCCCCCGCCCCCCGCCTACC CCCCGCCCCC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33536688	G G	GCCCCCCG others(29): Show GCCCCCCGCCTTCCCCCCGCCCCCGCCTTCCCCCCGC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	268	0.0037	36	c.252 others(55): Show c.2521+2522_2521+2523insTCCCCCCGCCCCCGCCTTCCCCCCGC CCCCCCGCCT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBX_chr3_107517962_107816339	107769227	T T	TAGATAGA others(29): Show TAGATAGATAGATAGATAGATAGATAGATAGACAGAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0174 a0001c0001t0036g0174	1	222	0.0045	36	c.907 others(53): Show c.907-3398_907-3397insTAGATAGATAGATAGATAGATAGATAGA CAGACAGA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107778994	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0032 a0003c0003t0032	a0003c0003t0032g0016 a0003c0003t0032g0016	1	222	0.0045	36	c.220 others(53): Show c.2203+502_2203+503insTATATATATATATATATATATATATATA TATATATA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BCAM_chr19_44804103_44826421	44810919	A A	AGACTCCT others(29): Show AGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00642.hp1 others(25): Show HG00140.hp1 HG00639.hp1 HG00642.hp1 HG01358.hp1 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02004.hp1 HG02040.hp2 HG02258.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02818.hp2 HG03017.hp2 HG03225.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp2 HG03579.hp2 HG03834.hp1 HG03927.hp2 NA18984.hp1 NA18988.hp1 NA18995.hp1 NA19005.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0015	a0001c0001 a0001c0004 a0002c0008 others(4): Show a0001c0001 a0001c0004 a0002c0008 a0002c0010 a0005c0027 a0006c0026 a0015c0028	a0001c0001t0002 a0001c0001t0003 a0001c0004t0001 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0004t0001 a0001c0004t0002 a0001c0004t0009 a0002c0008t0002 a0002c0010t0002 a0005c0027t0001 a0006c0026t0002 a0015c0028t0002	a0001c0001t0002g0056 a0001c0001t0002g0061 a0001c0001t0002g0062 others(16): Show a0001c0001t0002g0056 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0003g0055 a0001c0004t0001g0065 a0001c0004t0002g0009 a0001c0004t0002g0010 a0001c0004t0002g0030 a0001c0004t0002g0059 a0001c0004t0002g0064 a0001c0004t0002g0067 a0001c0004t0002g0068 a0001c0004t0009g0010 a0002c0008t0002g0009 a0002c0010t0002g0009 a0005c0027t0001g0066 a0006c0026t0002g0030 a0015c0028t0002g0009	28	410	0.0683	36	c.83- others(49): Show c.83-270_83-235dupGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGG GCCT	BCAM	ENSG00000187244.12	transcript	ENST00000270233.12	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
BCAM_chr19_44804103_44826421	44810955	G G	GGACTCCT others(29): Show GGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0060 a0002c0002t0002g0060	1	410	0.0024	36	c.83- others(49): Show c.83-225_83-190dupGGTCTGAGGGAGGAGGGGCTGGGGCCTAGACT CCTG	BCAM	ENSG00000187244.12	transcript	ENST00000270233.12	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
BCAP29_chr7_107575246_107625478	107591641	T T	TACACACA others(29): Show TACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01074.hp1 HG01081.hp1 others(2): Show HG00642.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0032 a0001c0001t0001g0344 a0001c0001t0008g0004 a0001c0001t0001g0032 a0001c0001t0001g0344 a0001c0001t0008g0004	5	398	0.0126	36	c.194 others(53): Show c.194-2298_194-2297insACACACACACACACACACACACACACAC ACACACAC	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107591656	A A	ACACACAC others(29): Show ACACACACACACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01175.hp2 HG01981.hp1 others(5): Show HG00621.hp1 HG01175.hp2 HG01981.hp1 HG01981.hp2 HG02071.hp2 HG02683.hp1 HG03098.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0170 others(4): Show a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0170 a0001c0001t0001g0339 a0001c0001t0003g0015 a0001c0001t0003g0053 a0001c0001t0003g0201	8	398	0.0201	36	c.194 others(53): Show c.194-2298_194-2297insACACACACACACACACACACACACACAC ACACACCC	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAS3_chr17_60672851_61397831	60973585	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA21309.hp2 HG02965.hp2 NA21309.hp2	a0002 a0003 a0002 a0003	a0002c0005 a0003c0010 a0002c0005 a0003c0010	a0002c0005t0001 a0003c0010t0002 a0002c0005t0001 a0003c0010t0002	a0002c0005t0001g0014 a0003c0010t0002g0023 a0002c0005t0001g0014 a0003c0010t0002g0023	2	74	0.0270	36	c.122 others(57): Show c.1222-16386_1222-16385insTATATATATATATATATATATATA TATATATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	14/23			chr17	TogoVar
BCAS3_chr17_60672851_61397831	61044465	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0073 a0002c0005t0001g0073	1	74	0.0135	36	c.202 others(55): Show c.2029+3574_2029+3575insAAAAAAAAAAAAAATATATATATATA TATATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAT1_chr12_24805024_24954101	24936712	A A	ATCTCTCT others(29): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01255.hp1 HG01256.hp1 others(2): Show HG01106.hp1 HG01255.hp1 HG01256.hp1 HG03831.hp1 NA19002.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0006 a0001c0001t0009 a0001c0001t0025 others(2): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0025 a0001c0001t0084 a0002c0004t0044	a0001c0001t0006g0283 a0001c0001t0009g0214 a0001c0001t0025g0211 others(2): Show a0001c0001t0006g0283 a0001c0001t0009g0214 a0001c0001t0025g0211 a0001c0001t0084g0038 a0002c0004t0044g0239	5	322	0.0155	36	c.6+1 others(51): Show c.6+12214_6+12215insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	1/10			chr12	TogoVar
BCKDK_chr16_31103386_31117791	31103583	C C	CTCTCCGT others(29): Show CTCTCCGTCTCCGTCTCCGTCTCCGTCTCCGTCTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	300	0.0033	36	c.-50 others(47): Show c.-5074_-5073insTCTCCGTCTCCGTCTCCGTCTCCGTCTCCGTCTC CG	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		4802		chr16	TogoVar
BCL11A_chr2_60452194_60558654	60467768	G G	GTGGTGGT others(29): Show GTGGTGGTGGTGGTGGTGGTAGTGATGGTGGTGGTAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0234 a0001c0001t0063g0234	1	262	0.0038	36	c.487 others(51): Show c.487+963_487+964insTTACCACCACCATCACTACCACCACCACCA CCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467822	A A	ATGGTGGT others(29): Show ATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02004.hp2 others(7): Show HG01167.hp2 HG01169.hp2 HG02004.hp2 HG02071.hp2 HG02293.hp2 HG03239.hp1 NA18957.hp1 NA18962.hp1 NA18973.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015	a0001c0001t0001g0063 a0001c0001t0002g0106 a0001c0001t0002g0118 others(7): Show a0001c0001t0001g0063 a0001c0001t0002g0106 a0001c0001t0002g0118 a0001c0001t0002g0127 a0001c0001t0005g0226 a0001c0001t0005g0230 a0001c0001t0006g0243 a0001c0001t0013g0249 a0001c0001t0014g0009 a0001c0001t0015g0162	10	262	0.0382	36	c.487 others(51): Show c.487+909_487+910insCCACCATTACCACCACCATCACTACCACCA CCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0132 a0002c0002t0008g0132	1	458	0.0022	36	c.-43 others(47): Show c.-4377_-4376insATTATATATATATATATATATATATATATATATA TA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar

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