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
BICD2_chr9_92706363_92769833	92757312	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0189 a0001c0001t0005g0189	1	360	0.0028	31	c.240 others(48): Show c.240+7192_240+7193insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	BICD2	ENSG00000185963.14	transcript	ENST00000356884.11	protein_coding	1/6			chr9	TogoVar
BICRAL_chr6_42777052_42873556	42857614	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0147 a0001c0001t0018g0147	1	270	0.0037	31	c.225 others(48): Show c.2254+379_2254+380insAAAAAAAAAAAAAAATATATATATATAT ATA	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42857614	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0064 a0001c0001t0027g0064	1	270	0.0037	31	c.225 others(48): Show c.2254+379_2254+380insAAAAAAAAAAAAATATATATATATATAT ATA	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRA_chr19_47604134_47708277	47672119	G G	GATGGGTA others(24): Show GATGGGTAGGTAGATGGATGGAAGGATGGAGC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0119 a0001c0031t0001g0119	1	312	0.0032	31	c.-5- others(46): Show c.-5-1420_-5-1390dupCATGGGTAGGTAGATGGATGGAAGGATGGA G	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
BIN2_chr12_51276038_51329174	51320934	A A	ACACACAC others(24): Show ACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02717.hp1 HG00735.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0376 a0001c0001t0001g0283 a0001c0001t0001g0376	2	400	0.0050	31	c.81+ others(46): Show c.81+3087_81+3088insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT G	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	1/12			chr12	TogoVar
BIVM_chr13_102794119_102846533	102833327	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01175.hp2 HG01515.hp1 others(1): Show HG00642.hp1 HG01175.hp2 HG01515.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0206 a0001c0001t0003g0237 a0001c0001t0003g0253 others(1): Show a0001c0001t0003g0206 a0001c0001t0003g0237 a0001c0001t0003g0253 a0001c0001t0003g0265	4	404	0.0099	31	c.103 others(50): Show c.1035-1121_1035-1120insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	BIVM	ENSG00000134897.14	transcript	ENST00000257336.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
BLTP1_chr4_122147331_122367752	122267051	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02523.hp1 HG02056.hp2 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0302 a0001c0001t0001g0221 a0001c0001t0001g0302	2	336	0.0060	31	c.749 others(48): Show c.7493+118_7493+119insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	46/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP3B_chr12_100032072_100147874	100140729	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03098.hp2 HG02451.hp1 HG03098.hp2	a0003 a0007 a0003 a0007	a0003c0002 a0007c0008 a0003c0002 a0007c0008	a0003c0002t0001 a0007c0008t0001 a0003c0002t0001 a0007c0008t0001	a0003c0002t0001g0036 a0007c0008t0001g0183 a0003c0002t0001g0036 a0007c0008t0001g0183	2	188	0.0106	31	c.44+ others(46): Show c.44+1862_44+1863insATATATATATATATATATATATATTTTTTT T	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100140729	A A	AAATATAT others(24): Show AAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0095 a0003c0002t0001g0095	1	188	0.0053	31	c.44+ others(46): Show c.44+1862_44+1863insATATATATATATATATATATATATATATAT T	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BMAL1_chr11_13272790_13392266	13288394	T T	TTTTCTTT others(24): Show TTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA20300.hp1 HG04115.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0209 a0001c0003t0001g0309 a0001c0001t0001g0209 a0001c0003t0001g0309	2	314	0.0064	31	c.-26 others(52): Show c.-263+10485_-263+10486insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMERB1_chr16_15429588_15593259	15444123	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	291	0.0034	31	c.106 others(48): Show c.106+9391_106+9392insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
BMP6_chr6_7721099_7886728	7813108	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0055 a0001c0001t0009g0055	1	308	0.0033	31	c.665 others(50): Show c.665-32031_665-32030insAAAAAAAAAAAAATATATATATATAT ATATA	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMPR1B_chr4_94752955_95163448	94770182	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0104 a0001c0001t0004g0104	1	226	0.0044	31	c.-18 others(52): Show c.-183+12117_-183+12118insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BOP1_chr8_144257045_144296438	144262794	G G	GGTACACC others(24): Show GGTACACCGCCCCCCCCCACCCCTCACCTGCA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0018 a0018	a0018c0023 a0018c0023	a0018c0023t0001 a0018c0023t0001	a0018c0023t0001g0139 a0018c0023t0001g0139	1	398	0.0025	31	c.189 others(46): Show c.1894+58_1894+59insTGCAGGTGAGGGGTGGGGGGGGGCGGTGTA C	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	13/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144262805	C C	CCCCCCCC others(24): Show CCCCCCCCACCCCTCACCTGCAGGGTACACCG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03195.hp2 NA21309.hp2 HG01884.hp2 HG03195.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0035 a0001c0002t0001g0037 a0001c0002t0001g0033 a0001c0002t0001g0035 a0001c0002t0001g0037	3	398	0.0075	31	c.189 others(46): Show c.1894+47_1894+48insCGGTGTACCCTGCAGGTGAGGGGTGGGGGG G	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	13/15			chr8	TogoVar
BORCS8_chr19_19171906_19197152	19177692	G G	GAGAAAAG others(24): Show GAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	428	0.0023	31	c.43 others(46): Show c.43-233_*43-232insTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC T	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BPI_chr20_38299156_38342505	38339638	G G	GAAAAAAA others(24): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0118 a0002c0002t0001g0118	1	426	0.0024	31	c.24 others(42): Show c.2454_*2455insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding		2134		chr20	TogoVar
BPTF_chr17_67820503_67989378	67917131	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0274 a0002c0002t0002g0274	1	274	0.0037	31	c.530 others(50): Show c.5304-1564_5304-1563insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	11/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BRAP_chr12_111637146_111690956	111667698	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	364	0.0028	31	c.748 others(48): Show c.748-1912_748-1911insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	BRAP	ENSG00000089234.16	transcript	ENST00000419234.9	protein_coding	5/11			chr12	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0035 a0001c0002t0005g0035	1	424	0.0024	31	c.127 others(48): Show c.127+2198_127+2199insAAATATATATATATATATATATATATAT ATA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	424	0.0024	31	c.127 others(48): Show c.127+2198_127+2199insAAAAATATATATATATATATATATATAT ATA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552107	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	424	0.0024	31	c.127 others(48): Show c.127+2197_127+2198insTATATATATATATATATATATATATATA TAT	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRCA1_chr17_43039295_43130364	43100622	T T	TATGTTAT others(24): Show TATGTTATATATATATATAACATATATATAAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02630.hp2 HG02622.hp1 HG02630.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0112 a0003c0003t0002g0139 a0003c0003t0002g0112 a0003c0003t0002g0139	2	276	0.0073	31	c.442 others(46): Show c.442-743_442-742insGTTATATATATGTTATATATATATATAACA T	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	6/22			chr17	TogoVar
BRCA1_chr17_43039295_43130364	43100663	T T	TATATGTT others(24): Show TATATGTTATATATATATAACATATATATAAC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02165.hp2 NA18971.hp2 HG01346.hp1 HG02165.hp2 NA18971.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0024 a0002c0005t0003g0026 a0002c0005t0003g0028 a0002c0005t0003g0024 a0002c0005t0003g0026 a0002c0005t0003g0028	3	276	0.0109	31	c.442 others(46): Show c.442-784_442-783insGTTATATATATGTTATATATATATAACATA T	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	6/22			chr17	TogoVar
BRCA1_chr17_43039295_43130364	43100663	T T	TATATTAT others(24): Show TATATTATATATATATATAACATATATATAAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0002 a0011c0020t0002	a0011c0020t0002g0152 a0011c0020t0002g0152	1	276	0.0036	31	c.442 others(46): Show c.442-784_442-783insGTTATATATATGTTATATATATATATAATA T	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	6/22			chr17	TogoVar
BRCA1_chr17_43039295_43130364	43100665	T T	TATATTAT others(24): Show TATATTATATATATATATAACATATATATAAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0119 a0003c0003t0004g0119	1	276	0.0036	31	c.442 others(46): Show c.442-786_442-785insGTTATATATATGTTATATATATATATAATA T	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	6/22			chr17	TogoVar
BRD1_chr22_49768283_49832873	49775823	C C	CGCCCCCC others(24): Show CGCCCCCCGCAGCTGTGTGAGCCTCCTCAGAT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0216 a0001c0002t0001g0216	1	258	0.0039	31	c.323 others(46): Show c.3232-79_3232-78insATCTGAGGAGGCTCACACAGCTGCGGGGGG C	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	11/12			chr22	TogoVar
BRIP1_chr17_61674139_61868528	61787118	T T	TAATATAT others(24): Show TAATATATTATATACTATATAAAATATATAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01074.hp1 HG01358.hp2 others(8): Show HG00597.hp2 HG01074.hp1 HG01358.hp2 HG02145.hp1 HG03209.hp2 HG03704.hp2 NA18612.hp1 NA19009.hp2 NA19066.hp1 NA19240.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 others(6): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0024 a0001c0001t0048 a0001c0001t0049 a0002c0002t0007 a0002c0003t0020 a0002c0003t0029	a0001c0001t0004g0159 a0001c0001t0004g0198 a0001c0001t0006g0160 others(8): Show a0001c0001t0004g0159 a0001c0001t0004g0198 a0001c0001t0006g0160 a0001c0001t0006g0195 a0001c0001t0008g0246 a0001c0001t0024g0066 a0001c0001t0048g0163 a0001c0001t0049g0168 a0002c0002t0007g0225 a0002c0003t0020g0079 a0002c0003t0029g0165	11	266	0.0414	31	c.147 others(50): Show c.1474-2725_1474-2695dupTTTATATATTTTATATAGTATATAAT ATATT	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	10/19			chr17	TogoVar
BRK1_chr3_10110675_10132190	10123732	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	356	0.0028	31	c.119 others(48): Show c.119-1873_119-1872insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	BRK1	ENSG00000254999.4	transcript	ENST00000530758.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
BRSK2_chr11_1384934_1467689	1438027	A A	ATCCCCCA others(24): Show ATCCCCCACAGCTGGCACCAAAGGCCCCTGCG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02280.hp2 HG02717.hp1 others(1): Show HG01346.hp2 HG02280.hp2 HG02717.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0005 a0001c0003 a0002c0002 a0002c0005	a0001c0003t0004 a0002c0002t0058 a0002c0005t0034 a0001c0003t0004 a0002c0002t0058 a0002c0005t0034	a0001c0003t0004g0290 a0002c0002t0058g0325 a0002c0005t0034g0055 others(1): Show a0001c0003t0004g0290 a0002c0002t0058g0325 a0002c0005t0034g0055 a0002c0005t0034g0056	4	360	0.0111	31	c.187 others(46): Show c.187-154_187-124dupTCCCCCACAGCTGGCACCAAAGGCCCCTGC G	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BSG_chr19_567596_588493	581060	G G	GGGTGAGG others(24): Show GGGTGAGGGGCATAGACTGGGGGTCCCGGACC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0117 a0001c0002t0001g0117	1	306	0.0033	31	c.793 others(46): Show c.793-255_793-254insGGTGAGGGGCATAGACTGGGGGTCCCGGAC C	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding	5/8			chr19	TogoVar
BSG_chr19_567596_588493	581060	G G	GGGTGAGG others(24): Show GGGTGAGGGGCCTAGACTGGGGGTCCCGGACC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02071.hp2 others(2): Show HG01243.hp1 HG01891.hp2 HG02071.hp2 HG02572.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0088 others(2): Show a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0121	5	306	0.0163	31	c.793 others(46): Show c.793-255_793-254insGGTGAGGGGCCTAGACTGGGGGTCCCGGAC C	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding	5/8			chr19	TogoVar
BSG_chr19_567596_588493	581060	G G	GGGTGAGG others(24): Show GGGTGAGGGGCGTAGACTGGGGGTCCCGGACC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00558.hp1 others(76): Show HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01175.hp1 HG01255.hp1 HG01358.hp2 HG01517.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG03017.hp2 HG03130.hp1 HG03239.hp2 HG03453.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04204.hp2 NA18747.hp2 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18964.hp2 NA18982.hp1 NA18983.hp1 NA18990.hp2 NA18994.hp2 NA18998.hp1 NA19005.hp1 NA19007.hp2 NA19011.hp2 NA19043.hp2 NA19060.hp1 NA19065.hp2 NA19066.hp1 NA19079.hp1 NA19080.hp2 NA19085.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA20905.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0007 a0009	a0001c0002 a0001c0010 a0001c0013 others(5): Show a0001c0002 a0001c0010 a0001c0013 a0001c0018 a0002c0005 a0005c0007 a0007c0014 a0009c0012	a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 others(9): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 a0001c0002t0016 a0001c0002t0018 a0001c0010t0001 a0001c0013t0001 a0001c0018t0001 a0002c0005t0001 a0005c0007t0001 a0007c0014t0001 a0009c0012t0001	a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0010 others(43): Show a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0010 a0001c0002t0001g0016 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0032 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0047 a0001c0002t0001g0094 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0150 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0173 a0001c0002t0002g0108 a0001c0002t0012g0001 a0001c0002t0016g0122 a0001c0002t0018g0001 a0001c0010t0001g0070 a0001c0010t0001g0084 a0001c0013t0001g0001 a0001c0018t0001g0133 a0002c0005t0001g0001 a0002c0005t0001g0116 a0005c0007t0001g0010 a0007c0014t0001g0119 a0009c0012t0001g0148	79	306	0.2582	31	c.793 others(46): Show c.793-255_793-254insGGTGAGGGGCGTAGACTGGGGGTCCCGGAC C	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding	5/8			chr19	TogoVar
BSND_chr1_54993933_55022172	54996837	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp2 NA19030.hp1 NA19070.hp2 NA19012.hp2 NA19030.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0198 a0001c0001t0224 a0001c0001t0009 a0001c0001t0198 a0001c0001t0224	a0001c0001t0009g0004 a0001c0001t0198g0012 a0001c0001t0224g0004 a0001c0001t0009g0004 a0001c0001t0198g0012 a0001c0001t0224g0004	3	448	0.0067	31	c.-23 others(42): Show c.-2350_-2349insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding		2095		chr1	TogoVar
BSN_chr3_49549477_49676549	49605513	A A	ATATTTTA others(24): Show ATATTTTATATAATATATAATATATATTTTAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02922.hp1 HG02572.hp2 HG02922.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0013 a0007c0013t0013	a0007c0013t0013g0050 a0007c0013t0013g0051 a0007c0013t0013g0050 a0007c0013t0013g0051	2	186	0.0108	31	c.225 others(50): Show c.225-19462_225-19461insTATTTTATATAATATATAATATATAT TTTAT	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11			chr3	TogoVar
BSN_chr3_49549477_49676549	49605872	T T	TTATATAT others(24): Show TTATATATAGATATAAATATATTTATATCTAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0024 a0002c0020t0024	a0002c0020t0024g0166 a0002c0020t0024g0166	1	186	0.0054	31	c.225 others(50): Show c.225-19078_225-19077insATCTAATATATATAGATATAAATATA TTTAT	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BTBD9_chr6_38163451_38644929	38439110	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0123 a0001c0001t0025g0123	1	224	0.0045	31	c.115 others(52): Show c.1155-94018_1155-94017insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTNL9_chr5_181035266_181066521	181046244	G G	GCCCCCAA others(24): Show GCCCCCAACACCTCCTCCACCATCTCCCCAGC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02922.hp1 HG02572.hp2 HG02922.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0012 a0001c0013t0012	a0001c0013t0012g0259 a0001c0013t0012g0260 a0001c0013t0012g0259 a0001c0013t0012g0260	2	390	0.0051	31	c.109 others(46): Show c.109+648_109+649insCCCAACACCTCCTCCACCATCTCCCCAGCC C	BTNL9	ENSG00000165810.17	transcript	ENST00000327705.14	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
BTRC_chr10_101349165_101562313	101387528	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0204 a0001c0001t0004g0204	1	266	0.0038	31	c.48+ others(48): Show c.48+33318_48+33319insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTRC_chr10_101349165_101562313	101549713	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0254 a0001c0001t0004g0254	1	266	0.0038	31	c.165 others(48): Show c.1657-963_1657-962insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
BUB3_chr10_123149402_123175467	123156753	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0040 a0001c0001t0074g0040	1	418	0.0024	31	c.266 others(46): Show c.266-965_266-964insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	BUB3	ENSG00000154473.18	transcript	ENST00000368865.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
C10orf90_chr10_126419997_126675693	126532842	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA20129.hp2 NA18965.hp1 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0004 a0005c0006t0003 a0001c0001t0004 a0005c0006t0003	a0001c0001t0004g0203 a0005c0006t0003g0134 a0001c0001t0004g0203 a0005c0006t0003g0134	2	218	0.0092	31	c.314 others(50): Show c.314-18904_314-18903insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126565013	A A	AATATATA others(24): Show AATATATATTATATATTATATAATATATATAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0160 a0008c0015t0001g0160	1	218	0.0046	31	c.314 others(50): Show c.314-51075_314-51074insGTATATATATTATATAATATATAATA TATAT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C11orf65_chr11_108377755_108472529	108408689	A A	AAATAAAA others(24): Show AAATAAAAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG02258.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0027 a0001c0001t0001g0028	2	330	0.0061	31	c.175 others(48): Show c.175-1541_175-1540insATTTTATTTTATTTTATTTTATTTTTTT ATT	C11orf65	ENSG00000166323.13	transcript	ENST00000393084.6	protein_coding	3/8			chr11	TogoVar
C11orf71_chr11_114393532_114405511	114394228	C C	CTTTTCTT others(24): Show CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	2	422	0.0047	31	c.57 others(42): Show c.5731_*5732insAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4303		chr11	TogoVar
C12orf40_chr12_39621183_39726914	39653521	C C	CTTCTTCT others(24): Show CTTCTTCTTCTTCTTTTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	360	0.0028	31	c.686 others(48): Show c.686+3181_686+3182insTTTCTTCTTCTTCTTCTTTCTTCTTCTT CTT	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C14orf28_chr14_44892275_44912257	44906149	G G	GCAAATTA others(24): Show GCAAATTACTTTTAACTACTTCCTAAAGTATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0004 a0002c0002t0016g0004	1	338	0.0030	31	c.60 others(40): Show c.600_*630dupCAAATTACTTTTAACTACTTCCTAAAGTATT	C14orf28	ENSG00000179476.8	transcript	ENST00000325192.8	protein_coding	5/5	631	INFO_REALIGN_3_PRIME	chr14	TogoVar
C16orf46_chr16_81055980_81082238	81080667	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02572.hp2 HG02258.hp1 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0074 a0002c0002t0001g0075	2	406	0.0049	31	c.-36 others(42): Show c.-3660_-3659insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C16orf46	ENSG00000166455.14	transcript	ENST00000299578.10	protein_coding		3430		chr16	TogoVar
C17orf78_chr17_37370985_37397708	37390304	T T	TTTTATAT others(24): Show TTTTATATATATATATATTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA19068.hp1 NA19087.hp1 others(1): Show NA18951.hp2 NA19068.hp1 NA19087.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0332 a0003c0003t0001g0018 a0003c0003t0001g0212 a0001c0001t0001g0332 a0003c0003t0001g0018 a0003c0003t0001g0212	4	441	0.0091	31	c.750 others(46): Show c.750+943_750+944insTTATATATATATATATTATATATATATATA T	C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
C17orf80_chr17_73227433_73253959	73234794	T T	TGTGTGTG others(24): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0129 a0002c0001t0001g0129	1	384	0.0026	31	c.-7- others(44): Show c.-7-682_-7-681insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C17orf80	ENSG00000141219.16	transcript	ENST00000535032.7	protein_coding	2/5			chr17	TogoVar

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