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
BIRC2_chr11_102342214_102383670	102342340	GTATGTAT others(15): Show GTATGTATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG02809.hp1 HG01361.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0150 a0001c0001t0001g0062 a0001c0001t0001g0150	2	344	0.0058	-22	c.-62 others(33): Show c.-6293_-6272delTATGTATATATATATATATATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding		4873		chr11	TogoVar
BIRC2_chr11_102342214_102383670	102342344	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	344	0.0029	-22	c.-62 others(33): Show c.-6289_-6268delTATATATATATATATATATATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding		4869		chr11	TogoVar
BIRC2_chr11_102342214_102383670	102364772	GACTGGAA others(15): Show GACTGGAAAATAGGAAGGAGAGT	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01346.hp1 HG01358.hp2 others(13): Show HG01123.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01928.hp2 HG01975.hp2 HG01993.hp1 HG02135.hp1 HG02300.hp1 HG03710.hp2 NA18949.hp1 NA18952.hp2 NA18954.hp1 NA18968.hp2 NA18980.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0047 a0001c0001t0001g0070 others(10): Show a0001c0001t0001g0005 a0001c0001t0001g0047 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0125 a0001c0001t0001g0190 a0001c0001t0001g0221 a0001c0001t0001g0233 a0001c0001t0001g0258 a0001c0001t0001g0267 a0001c0001t0001g0274	16	344	0.0465	-22	c.112 others(41): Show c.1123+1081_1123+1102delTGGAAAATAGGAAGGAGAGTAC	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC3_chr11_102312484_102344403	102342340	GTATGTAT others(15): Show GTATGTATATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG02809.hp1 HG01361.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0002 a0001c0001t0004g0002 a0001c0001t0001g0002 a0001c0001t0004g0002	2	384	0.0052	-22	c.52 others(33): Show c.5239_*5260delTATGTATATATATATATATATA	BIRC3	ENSG00000023445.17	transcript	ENST00000263464.9	protein_coding		2938		chr11	TogoVar
BIRC3_chr11_102312484_102344403	102342344	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	384	0.0026	-22	c.52 others(33): Show c.5243_*5264delTATATATATATATATATATATA	BIRC3	ENSG00000023445.17	transcript	ENST00000263464.9	protein_coding		2942		chr11	TogoVar
BLK_chr8_11489387_11569599	11535302	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	308	0.0033	-22	c.-1- others(37): Show c.-1-7917_-1-7896delAGAAAGAAAGAAAGAAAGAGAA	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLK_chr8_11489387_11569599	11560165	GGGTGGAT others(15): Show GGGTGGATGGATGGATGCATGGA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	308	0.0033	-22	c.103 others(41): Show c.1030-1136_1030-1115delGGTGGATGGATGGATGCATGGA	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	10/12			chr8	TogoVar
BLM_chr15_90712346_90821166	90735236	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18981.hp1 NA18986.hp1 others(1): Show NA18955.hp2 NA18981.hp1 NA18986.hp1 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0002c0005t0002 a0001c0001t0001 a0001c0002t0001 a0002c0005t0002	a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0002t0001g0241 others(1): Show a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0002t0001g0241 a0002c0005t0002g0238	4	280	0.0143	-22	c.-4- others(39): Show c.-4-12138_-4-12117delATATATATATATATATATATAT	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLM_chr15_90712346_90821166	90789987	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02723.hp1 HG02976.hp2 others(2): Show HG02145.hp1 HG02723.hp1 HG02976.hp2 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0009 a0001c0010 a0001c0009 a0001c0010	a0001c0009t0001 a0001c0010t0001 a0001c0009t0001 a0001c0010t0001	a0001c0009t0001g0080 a0001c0009t0001g0277 a0001c0010t0001g0041 others(2): Show a0001c0009t0001g0080 a0001c0009t0001g0277 a0001c0010t0001g0041 a0001c0010t0001g0042 a0001c0010t0001g0043	5	280	0.0179	-22	c.282 others(39): Show c.2824-647_2824-626delTTTTTTTTTTTTTTTTTTTTTT	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	14/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLOC1S6_chr15_45582379_45614708	45583377	TTTTGGTA others(15): Show TTTTGGTAGAGACAGGGTTTCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	362	0.0028	-22	c.-40 others(33): Show c.-4066_-4045delTTTGGTAGAGACAGGGTTTCAC	BLOC1S6	ENSG00000104164.12	transcript	ENST00000220531.9	protein_coding		4001		chr15	TogoVar
BLOC1S6_chr15_45582379_45614708	45603230	TAGCAATA others(15): Show TAGCAATAGCTAAGACTTAGCTA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01167.hp1 HG01169.hp2 others(38): Show HG00642.hp2 HG01167.hp1 HG01169.hp2 HG01255.hp1 HG01884.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA19240.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0002 a0001c0001 a0001c0003 a0003c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0020 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0003t0003 a0003c0002t0003	a0001c0001t0003g0012 a0001c0001t0003g0018 a0001c0001t0003g0030 others(19): Show a0001c0001t0003g0012 a0001c0001t0003g0018 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0093 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0103 a0001c0001t0003g0114 a0001c0001t0004g0010 a0001c0001t0004g0014 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0102 a0001c0001t0020g0010 a0001c0001t0021g0031 a0001c0001t0022g0104 a0001c0001t0023g0096 a0001c0003t0003g0098 a0003c0002t0003g0030	41	362	0.1133	-22	c.312 others(35): Show c.312+58_312+79delCTTAGCTAAGCAATAGCTAAGA	BLOC1S6	ENSG00000104164.12	transcript	ENST00000220531.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLTP3B_chr12_100032072_100147874	100109159	CCTCTCTC others(15): Show CCTCTCTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18990.hp2 HG03471.hp1 NA18990.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0001 a0002c0010t0001 a0001c0001t0001 a0002c0010t0001	a0001c0001t0001g0129 a0002c0010t0001g0024 a0001c0001t0001g0129 a0002c0010t0001g0024	2	188	0.0106	-22	c.45- others(35): Show c.45-633_45-612delAGAGAGAGAGAGAGAGAGAGAG	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100124936	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp1 HG02258.hp1 others(7): Show HG01109.hp2 HG02109.hp1 HG02258.hp1 HG02486.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG03453.hp1 HG03540.hp1 HG03579.hp1	a0001 a0020 a0001 a0020	a0001c0001 a0001c0004 a0001c0025 others(1): Show a0001c0001 a0001c0004 a0001c0025 a0020c0016	a0001c0001t0001 a0001c0004t0001 a0001c0025t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0001c0025t0001 a0020c0016t0001	a0001c0001t0001g0147 a0001c0004t0001g0028 a0001c0004t0001g0029 others(7): Show a0001c0001t0001g0147 a0001c0004t0001g0028 a0001c0004t0001g0029 a0001c0004t0001g0040 a0001c0004t0001g0041 a0001c0004t0001g0042 a0001c0004t0001g0044 a0001c0004t0001g0047 a0001c0025t0001g0092 a0020c0016t0001g0055	10	188	0.0532	-22	c.45- others(39): Show c.45-16410_45-16389delTATATATATATATATATATATA	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BMAL1_chr11_13272790_13392266	13284190	ATATGTGT others(15): Show ATATGTGTGTATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02559.hp1 HG02698.hp2 others(8): Show HG02135.hp1 HG02559.hp1 HG02698.hp2 HG02735.hp2 HG03927.hp1 HG04199.hp2 NA18940.hp1 NA18969.hp1 NA19000.hp2 NA19082.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0187 a0001c0001t0001g0191 others(8): Show a0001c0001t0001g0151 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0208	11	314	0.0350	-22	c.-26 others(41): Show c.-263+6271_-263+6292delGTGTGTATATATATATGTGTAT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13363127	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	314	0.0032	-22	c.460 others(39): Show c.460-2354_460-2333delATATATATATATATATATATAT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMP1_chr8_22160372_22206482	22165882	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp1 HG01071.hp1 HG00099.hp2 HG00733.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0387 a0001c0001t0001g0014 a0001c0001t0001g0387	3	418	0.0072	-22	c.148 others(37): Show c.148+352_148+373delGTGTGTGTGTGTGTGTGTGTGT	BMP1	ENSG00000168487.20	transcript	ENST00000306349.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP1_chr8_22160372_22217326	22165882	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp1 HG01071.hp1 HG00099.hp2 HG00733.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0384 a0001c0001t0001g0385 a0001c0001t0001g0386 a0001c0001t0001g0384 a0001c0001t0001g0385 a0001c0001t0001g0386	3	408	0.0074	-22	c.148 others(37): Show c.148+352_148+373delGTGTGTGTGTGTGTGTGTGTGT	BMP1	ENSG00000168487.20	transcript	ENST00000306385.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP2K_chr4_78771350_78921365	78873658	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp1 HG01167.hp1 others(15): Show HG00735.hp1 HG01109.hp1 HG01167.hp1 HG01243.hp1 HG01884.hp2 HG01891.hp1 HG02486.hp2 HG02559.hp2 HG02622.hp1 HG02965.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03471.hp2 HG03540.hp1 NA19043.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0017 a0003c0005 a0001c0001 a0001c0017 a0003c0005	a0001c0001t0010 a0001c0001t0011 a0001c0017t0011 others(2): Show a0001c0001t0010 a0001c0001t0011 a0001c0017t0011 a0003c0005t0008 a0003c0005t0009	a0001c0001t0010g0137 a0001c0001t0010g0138 a0001c0001t0010g0139 others(14): Show a0001c0001t0010g0137 a0001c0001t0010g0138 a0001c0001t0010g0139 a0001c0001t0010g0140 a0001c0001t0011g0040 a0001c0001t0011g0041 a0001c0017t0011g0042 a0003c0005t0008g0021 a0003c0005t0008g0130 a0003c0005t0008g0132 a0003c0005t0008g0133 a0003c0005t0008g0134 a0003c0005t0009g0001 a0003c0005t0009g0020 a0003c0005t0009g0131 a0003c0005t0009g0135 a0003c0005t0009g0136	18	204	0.0882	-22	c.179 others(39): Show c.1793+886_1793+907delGTGTGTGTGTGTGTGTGTGTGT	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP6_chr6_7721099_7886728	7813108	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19030.hp2 NA20129.hp2 HG02145.hp1 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0017 a0001c0001t0011 a0001c0001t0017	a0001c0001t0011g0046 a0001c0001t0011g0048 a0001c0001t0017g0081 a0001c0001t0011g0046 a0001c0001t0011g0048 a0001c0001t0017g0081	3	308	0.0097	-22	c.665 others(41): Show c.665-32012_665-31991delTATATATATATATATATATATA	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMP7_chr20_57163753_57271641	57216474	ACCTGAGG others(15): Show ACCTGAGGACGAGGGCGCTGTCT	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	272	0.0074	-22	c.611 others(41): Show c.611+11733_611+11754delAGACAGCGCCCTCGTCCTCAGG	BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	2/6			chr20	TogoVar
BMP7_chr20_57163753_57271641	57216489	CGCTGTCT others(15): Show CGCTGTCTCCTGAGGGCGAGGGG	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG03453.hp1 HG01358.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0069 a0001c0001t0004g0242 a0001c0001t0001g0069 a0001c0001t0004g0242	2	272	0.0074	-22	c.611 others(41): Show c.611+11718_611+11739delCCCCTCGCCCTCAGGAGACAGC	BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	2/6			chr20	TogoVar
BMP8B_chr1_39752182_39793865	39790497	TATTACCC others(15): Show TATTACCCCCAACAAATTTTAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG00621.hp2 others(24): Show HG00597.hp2 HG00609.hp2 HG00621.hp2 HG01099.hp1 HG02027.hp1 HG02071.hp1 HG02135.hp2 HG03239.hp2 HG03831.hp1 NA18940.hp1 NA18941.hp2 NA18945.hp2 NA18946.hp2 NA18962.hp1 NA18967.hp2 NA18987.hp2 NA18995.hp1 NA18995.hp2 NA19006.hp1 NA19009.hp2 NA19012.hp2 NA19058.hp1 NA19079.hp2 NA19082.hp2 NA19091.hp2 NA20752.hp2 NA20905.hp1	a0004 a0009 a0004 a0009	a0004c0006 a0004c0012 a0009c0017 a0004c0006 a0004c0012 a0009c0017	a0004c0006t0005 a0004c0012t0005 a0009c0017t0038 a0004c0006t0005 a0004c0012t0005 a0009c0017t0038	a0004c0006t0005g0008 a0004c0006t0005g0224 a0004c0006t0005g0225 others(15): Show a0004c0006t0005g0008 a0004c0006t0005g0224 a0004c0006t0005g0225 a0004c0006t0005g0226 a0004c0006t0005g0227 a0004c0006t0005g0228 a0004c0006t0005g0229 a0004c0006t0005g0230 a0004c0006t0005g0231 a0004c0006t0005g0232 a0004c0006t0005g0233 a0004c0006t0005g0234 a0004c0006t0005g0237 a0004c0012t0005g0016 a0004c0012t0005g0235 a0004c0012t0005g0238 a0004c0012t0005g0239 a0009c0017t0038g0236	27	430	0.0628	-22	c.-20 others(33): Show c.-2034_-2013delTTTAAAATTTGTTGGGGGTAAT	BMP8B	ENSG00000116985.12	transcript	ENST00000372827.8	protein_coding		1633		chr1	TogoVar
BMPER_chr7_33900539_34161427	33910744	ATAGTGAA others(15): Show ATAGTGAAGACAGAGAGACCTTG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG00621.hp1 others(13): Show HG00558.hp1 HG00609.hp1 HG00621.hp1 HG01074.hp1 HG01978.hp1 HG02015.hp1 HG02145.hp2 HG02258.hp1 HG02300.hp2 HG02572.hp1 HG02818.hp1 HG03139.hp1 HG03209.hp1 NA18906.hp2 NA19043.hp1 NA19058.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0003c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0019 a0001c0001t0022 a0001c0001t0031 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0003t0020 a0001c0004t0030 a0001c0005t0001 a0003c0012t0004	a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0002g0231 others(13): Show a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0007g0004 a0001c0001t0010g0223 a0001c0001t0019g0001 a0001c0001t0022g0228 a0001c0001t0031g0229 a0001c0002t0001g0224 a0001c0002t0002g0222 a0001c0002t0005g0227 a0001c0003t0020g0002 a0001c0004t0030g0003 a0001c0005t0001g0226 a0003c0012t0004g0085	16	232	0.0690	-22	c.219 others(39): Show c.219+3843_219+3864delAGTGAAGACAGAGAGACCTTGT	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34024384	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	232	0.0043	-22	c.577 others(41): Show c.577-21893_577-21872delATATATATATATATATATATAT	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34031911	TATATATA others(15): Show TATATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03041.hp1 HG03195.hp2 others(2): Show HG01884.hp1 HG03041.hp1 HG03195.hp2 HG03486.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0003t0003 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0003t0003 a0001c0003t0004	a0001c0001t0001g0010 a0001c0001t0006g0009 a0001c0001t0006g0029 others(2): Show a0001c0001t0001g0010 a0001c0001t0006g0009 a0001c0001t0006g0029 a0001c0003t0003g0027 a0001c0003t0004g0120	5	232	0.0216	-22	c.577 others(41): Show c.577-14393_577-14372delTATATATATATATATACACACA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34129588	GAGAGAGA others(15): Show GAGAGAGAGAGAGAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02647.hp2 HG02486.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0095 a0001c0001t0003g0110 a0001c0001t0001g0095 a0001c0001t0003g0110	2	232	0.0086	-22	c.174 others(43): Show c.1746-13626_1746-13605delGAGAGAAAGAGAGAGAGAGAGA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPR1A_chr10_86751619_86932969	86790176	AAAAAAAA others(15): Show AAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01891.hp2 HG02622.hp2 others(1): Show HG01081.hp1 HG01891.hp2 HG02622.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0025 a0001c0002t0007 a0001c0002t0025	a0001c0002t0007g0036 a0001c0002t0007g0135 a0001c0002t0025g0030 others(1): Show a0001c0002t0007g0036 a0001c0002t0007g0135 a0001c0002t0025g0030 a0001c0002t0025g0035	4	278	0.0144	-22	c.-26 others(43): Show c.-268+33259_-268+33280delAAAAAAAAAAAATATATATATA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86790184	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02615.hp1 HG00639.hp1 HG02615.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0006 a0002c0001t0071 a0001c0002t0006 a0002c0001t0071	a0001c0002t0006g0025 a0002c0001t0071g0171 a0001c0002t0006g0025 a0002c0001t0071g0171	2	278	0.0072	-22	c.-26 others(43): Show c.-268+33267_-268+33288delAAAATATATATATATATATATA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86790188	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0038 a0001c0002t0040g0038	1	278	0.0036	-22	c.-26 others(43): Show c.-268+33296_-268+33317delATATATATATATATATATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1B_chr4_94752955_95163448	94761415	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01515.hp2 NA18943.hp1 HG01515.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0123 a0001c0001t0006g0010 a0001c0001t0003g0123 a0001c0001t0006g0010	2	226	0.0089	-22	c.-18 others(41): Show c.-183+3373_-183+3394delGTGTGTGTGTGTGTGTGTGTGT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94869095	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02895.hp2 HG02055.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0060 a0001c0001t0059 a0001c0001t0060	a0001c0001t0059g0124 a0001c0001t0060g0125 a0001c0001t0059g0124 a0001c0001t0060g0125	2	226	0.0089	-22	c.-18 others(41): Show c.-182-6709_-182-6688delACACACACACACACACACACAC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94902247	CACAGAGA others(15): Show CACAGAGAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA21309.hp2 HG03579.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0050 a0001c0001t0002 a0001c0001t0050	a0001c0001t0002g0183 a0001c0001t0050g0020 a0001c0001t0002g0183 a0001c0001t0050g0020	2	226	0.0089	-22	c.-11 others(43): Show c.-113+26349_-113+26370delCAGAGAGAGAGAGAGAGAGAGA	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94902249	CAGAGAGA others(15): Show CAGAGAGAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG02572.hp2 others(2): Show HG01884.hp2 HG02257.hp2 HG02572.hp2 HG02976.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0020 a0001c0001t0028 others(2): Show a0001c0001t0012 a0001c0001t0020 a0001c0001t0028 a0001c0001t0031 a0001c0001t0037	a0001c0001t0012g0128 a0001c0001t0020g0130 a0001c0001t0028g0127 others(2): Show a0001c0001t0012g0128 a0001c0001t0020g0130 a0001c0001t0028g0127 a0001c0001t0031g0121 a0001c0001t0037g0129	5	226	0.0221	-22	c.-11 others(43): Show c.-113+26373_-113+26394delGAGAGAGAGAGAGAGAGAGAGA	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95049419	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG00735.hp2 others(14): Show HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01361.hp1 HG01934.hp1 HG01981.hp1 HG02148.hp2 HG02257.hp1 HG02630.hp1 HG02965.hp2 HG03834.hp1 HG04204.hp1 NA19060.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0024 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0024 a0001c0001t0033 a0001c0001t0049 a0003c0004t0003	a0001c0001t0002g0062 a0001c0001t0002g0077 a0001c0001t0002g0092 others(14): Show a0001c0001t0002g0062 a0001c0001t0002g0077 a0001c0001t0002g0092 a0001c0001t0002g0156 a0001c0001t0002g0169 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0064 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0145 a0001c0001t0003g0164 a0001c0001t0024g0133 a0001c0001t0033g0205 a0001c0001t0049g0085 a0003c0004t0003g0029	17	226	0.0752	-22	c.-18 others(41): Show c.-18+53315_-18+53336delTTTTTTTTTTTTTTTTTTTTTT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95061160	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG01071.hp1 others(42): Show HG00280.hp1 HG00323.hp1 HG01071.hp1 HG01123.hp2 HG01169.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01891.hp2 HG01952.hp1 HG01978.hp1 HG02080.hp2 HG02132.hp2 HG02148.hp1 HG02258.hp2 HG03490.hp2 HG03492.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG04115.hp1 HG04204.hp2 NA18612.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18960.hp2 NA18962.hp2 NA18988.hp2 NA18992.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19012.hp1 NA19056.hp2 NA19062.hp1 NA19070.hp1 NA19090.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0025 a0001c0001t0027 a0001c0001t0030 a0001c0001t0032	a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0066 others(42): Show a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0139 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0004g0063 a0001c0001t0005g0073 a0001c0001t0005g0096 a0001c0001t0005g0110 a0001c0001t0005g0132 a0001c0001t0005g0151 a0001c0001t0005g0162 a0001c0001t0005g0168 a0001c0001t0006g0115 a0001c0001t0006g0170 a0001c0001t0006g0177 a0001c0001t0006g0181 a0001c0001t0007g0019 a0001c0001t0009g0179 a0001c0001t0012g0166 a0001c0001t0025g0074 a0001c0001t0027g0082 a0001c0001t0030g0141 a0001c0001t0032g0175	45	226	0.1991	-22	c.-17 others(41): Show c.-17-43219_-17-43198delACACACACACACACACACACAC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR2_chr2_202371327_202572749	202393882	CGAGAGAG others(15): Show CGAGAGAGAGAGAGAGAGAGAGA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp1 HG02896.hp2 others(1): Show HG02572.hp2 HG02630.hp1 HG02896.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0041 a0001c0001t0005 a0001c0001t0011 a0001c0001t0041	a0001c0001t0005g0073 a0001c0001t0005g0157 a0001c0001t0011g0083 others(1): Show a0001c0001t0005g0073 a0001c0001t0005g0157 a0001c0001t0011g0083 a0001c0001t0041g0143	4	224	0.0179	-22	c.76+ others(39): Show c.76+16363_76+16384delGAGAGAGAGAGAGAGAGAGAGA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202456063	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp2 HG01071.hp1 others(23): Show HG00642.hp1 HG01069.hp2 HG01071.hp1 HG01123.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01358.hp2 HG01515.hp2 HG01517.hp1 HG01928.hp2 HG01978.hp1 HG01993.hp2 HG02055.hp1 HG02257.hp2 HG02273.hp2 HG02293.hp2 HG02622.hp1 HG02698.hp1 HG03139.hp1 HG03669.hp2 HG03831.hp2 NA18522.hp2 NA19082.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0003 a0001c0001t0014 a0001c0001t0015 others(6): Show a0001c0001t0003 a0001c0001t0014 a0001c0001t0015 a0001c0001t0021 a0001c0001t0041 a0001c0001t0048 a0001c0001t0050 a0001c0001t0052 a0003c0008t0003	a0001c0001t0003g0012 a0001c0001t0003g0018 a0001c0001t0003g0019 others(23): Show a0001c0001t0003g0012 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0014g0033 a0001c0001t0014g0142 a0001c0001t0014g0144 a0001c0001t0015g0014 a0001c0001t0015g0023 a0001c0001t0015g0028 a0001c0001t0021g0138 a0001c0001t0041g0143 a0001c0001t0048g0013 a0001c0001t0050g0017 a0001c0001t0052g0145 a0003c0008t0003g0030	26	224	0.1161	-22	c.77- others(37): Show c.77-8728_77-8707delAAAAAAAAAAAAAAAAAAAAAA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMX_chrX_15495807_15561519	15498555	TCTCTCTC others(15): Show TCTCTCTCTCTCTCTCTCTCTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG02451.hp2 others(4): Show HG00639.hp1 HG00639.hp2 HG02451.hp2 HG02572.hp1 HG02886.hp1 HG03516.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0187 others(4): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191	7	216	0.0324	-22	c.-23 others(33): Show c.-2394_-2373delCTCTCTCTCTCTCTCTCTCTCC	BMX	ENSG00000102010.15	transcript	ENST00000348343.11	protein_coding		2251		chrX	TogoVar
BMX_chrX_15495807_15561519	15498576	CCCTCTCT others(15): Show CCCTCTCTCTCTCTCTCTCTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0146 a0002c0002t0001g0146	1	216	0.0046	-22	c.-23 others(33): Show c.-2373_-2352delCCTCTCTCTCTCTCTCTCTCCT	BMX	ENSG00000102010.15	transcript	ENST00000348343.11	protein_coding		2230		chrX	TogoVar
BNC2_chr9_16404503_16875670	16497978	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp1 HG02895.hp1 others(1): Show HG02109.hp1 HG02615.hp1 HG02895.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0014 a0001c0001t0007 a0001c0001t0014	a0001c0001t0007g0065 a0001c0001t0007g0085 a0001c0001t0007g0158 others(1): Show a0001c0001t0007g0065 a0001c0001t0007g0085 a0001c0001t0007g0158 a0001c0001t0014g0041	4	176	0.0227	-22	c.669 others(41): Show c.669+54530_669+54551delACACACACACACACACACACAC	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	5/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16498222	CATATATA others(15): Show CATATATATATATTCCATCATAT	C C	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18982.hp1 NA18948.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0169 a0001c0001t0002g0112 a0001c0001t0002g0169	2	176	0.0114	-22	c.669 others(41): Show c.669+54286_669+54307delATATGATGGAATATATATATAT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	5/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16793648	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01192.hp1 HG01884.hp2 others(17): Show HG00558.hp1 HG01192.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02257.hp1 HG02559.hp1 HG02615.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG03490.hp2 HG03540.hp1 HG03540.hp2 NA18522.hp2 NA18963.hp2 NA19060.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0011 a0001c0020 a0002c0003 a0002c0021 a0004c0004	a0001c0001t0003 a0001c0001t0013 a0001c0001t0014 others(14): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0028 a0001c0001t0044 a0001c0002t0094 a0001c0005t0030 a0001c0005t0073 a0001c0011t0082 a0001c0020t0107 a0002c0003t0001 a0002c0021t0001 a0004c0004t0060	a0001c0001t0003g0046 a0001c0001t0013g0140 a0001c0001t0013g0144 others(17): Show a0001c0001t0003g0046 a0001c0001t0013g0140 a0001c0001t0013g0144 a0001c0001t0014g0032 a0001c0001t0014g0041 a0001c0001t0019g0116 a0001c0001t0020g0079 a0001c0001t0020g0081 a0001c0001t0021g0064 a0001c0001t0024g0133 a0001c0001t0028g0033 a0001c0001t0044g0153 a0001c0002t0094g0168 a0001c0005t0030g0051 a0001c0005t0073g0037 a0001c0011t0082g0035 a0001c0020t0107g0118 a0002c0003t0001g0006 a0002c0021t0001g0108 a0004c0004t0060g0045	20	176	0.1136	-22	c.4-5 others(37): Show c.4-55185_4-55164delAAAAAAAAAAAAAAAAAAAAAA	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	1/6			chr9	TogoVar
BNIP1_chr5_173139531_173169387	173148083	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02976.hp1 HG03209.hp2 others(3): Show HG02647.hp1 HG02976.hp1 HG03209.hp2 HG03540.hp2 NA18906.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0009 a0001c0001t0001g0254 a0001c0001t0001g0256	6	352	0.0171	-22	c.177 others(39): Show c.177+1158_177+1179delATATATATATATATATATATAT	BNIP1	ENSG00000113734.18	transcript	ENST00000351486.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
BNIP1_chr5_173139531_173169387	173166560	GATATATA others(15): Show GATATATATATATATATATATAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG02129.hp1 NA18946.hp2 others(2): Show HG00621.hp2 HG02129.hp1 NA18946.hp2 NA18962.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0054 others(2): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0059	5	352	0.0142	-22	c.26 others(33): Show c.2640_*2661delATATATATATATATATATATAT	BNIP1	ENSG00000113734.18	transcript	ENST00000351486.10	protein_coding		2174		chr5	TogoVar
BNIP5_chr6_36310761_36341888	36324575	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG01168.hp1 others(14): Show HG00423.hp1 HG00438.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG02004.hp1 HG02280.hp1 HG02451.hp1 HG03453.hp1 HG03486.hp1 NA18906.hp1 NA18954.hp2 NA18984.hp1 NA18990.hp1 NA19004.hp2 NA19043.hp1 NA19084.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0008c0013	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0004c0004t0001 a0008c0013t0001	a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0244 others(11): Show a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0244 a0001c0001t0001g0256 a0001c0001t0001g0265 a0001c0001t0001g0295 a0001c0001t0002g0092 a0002c0002t0001g0029 a0002c0002t0001g0190 a0002c0002t0001g0232 a0002c0002t0001g0266 a0002c0002t0002g0061 a0004c0004t0001g0230 a0008c0013t0001g0274	17	424	0.0401	-22	c.116 others(39): Show c.1169-407_1169-386delTATATATATATATATATATATA	BNIP5	ENSG00000189325.7	transcript	ENST00000437635.3	protein_coding	6/11			chr6	TogoVar
BNIP5_chr6_36310761_36341888	36330726	TTTTGTTT others(15): Show TTTTGTTTGTTTGTTTTGATTTG	T T	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	424	0.0024	-22	c.-4- others(33): Show c.-4-54_-4-33delCAAATCAAAACAAACAAACAAA	BNIP5	ENSG00000189325.7	transcript	ENST00000437635.3	protein_coding	1/11			chr6	TogoVar
BOC_chr3_113206557_113292459	113210228	AACACACA others(15): Show AACACACACACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02486.hp2 HG02615.hp1 others(2): Show HG02280.hp2 HG02486.hp2 HG02615.hp1 HG02818.hp1 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0005 a0001c0006 others(1): Show a0001c0002 a0001c0005 a0001c0006 a0003c0017	a0001c0002t0017 a0001c0005t0014 a0001c0006t0013 others(1): Show a0001c0002t0017 a0001c0005t0014 a0001c0006t0013 a0003c0017t0055	a0001c0002t0017g0252 a0001c0005t0014g0262 a0001c0006t0013g0125 others(2): Show a0001c0002t0017g0252 a0001c0005t0014g0262 a0001c0006t0013g0125 a0001c0006t0013g0246 a0003c0017t0055g0247	5	386	0.0130	-22	c.-19 others(33): Show c.-1957_-1936delACACACACACACACACACACAC	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding		1328		chr3	TogoVar
BOLL_chr2_197721890_197790319	197754750	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp2 others(146): Show HG00099.hp1 HG00099.hp2 HG00408.hp2 HG00423.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01978.hp2 HG02004.hp1 HG02027.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18974.hp2 NA18977.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18995.hp1 NA19002.hp1 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19058.hp1 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19075.hp1 NA19077.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 a0002c0002t0007 a0002c0002t0014 a0003c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 others(121): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0088 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0005g0033 a0001c0001t0005g0259 a0001c0001t0005g0260 a0001c0001t0005g0261 a0001c0001t0015g0265 a0002c0002t0007g0034 a0002c0002t0007g0262 a0002c0002t0007g0263 a0002c0002t0014g0264 a0003c0003t0001g0128	149	328	0.4543	-22	c.729 others(39): Show c.729+1656_729+1677delGTGTGTGTGTGTGTGTGTGTGT	BOLL	ENSG00000152430.19	transcript	ENST00000392296.9	protein_coding	9/10			chr2	TogoVar
BOLL_chr2_197721890_197790319	197784391	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02040.hp1 HG02056.hp2 others(10): Show HG01243.hp1 HG02040.hp1 HG02056.hp2 HG02165.hp2 NA18939.hp2 NA18943.hp2 NA18950.hp1 NA18963.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA19063.hp2 NA19079.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0004c0004t0001 a0001c0001t0002 a0004c0004t0001	a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0057 others(8): Show a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0004c0004t0001g0230	13	328	0.0396	-22	c.-16 others(37): Show c.-16+643_-16+664delATATATATATATATATATATAT	BOLL	ENSG00000152430.19	transcript	ENST00000392296.9	protein_coding	1/10			chr2	TogoVar
BORA_chr13_72722923_72761196	72724721	TATATATA others(15): Show TATATATATATATATATATACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 NA18948.hp2 NA18951.hp1 others(11): Show HG00741.hp1 NA18948.hp2 NA18951.hp1 NA18967.hp1 NA18973.hp2 NA18977.hp2 NA18986.hp1 NA18990.hp2 NA19009.hp1 NA19012.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0036 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0111 a0001c0001t0001g0140 a0001c0007t0001g0020	14	388	0.0361	-22	c.-33 others(33): Show c.-3301_-3280delATATATATATATATATATACAC	BORA	ENSG00000136122.18	transcript	ENST00000390667.11	protein_coding		3201		chr13	TogoVar

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