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
A2ML1_chr12_8817621_8881787	8841009	A A	AGGAAGGA others(29): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0074 a0002c0004t0003g0074	1	368	0.0027	36	c.108 others(53): Show c.1081-357_1081-356insAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGACGGA	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	10/35		INFO_REALIGN_3_PRIME	chr12	TogoVar
A4GALT_chr22_42687121_42725870	42708545	A A	AGAAGGAA others(29): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02135.hp1 HG02155.hp1 others(1): Show HG02040.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0002t0005 a0002c0003t0001 a0001c0001t0002 a0001c0002t0005 a0002c0003t0001	a0001c0001t0002g0220 a0001c0002t0005g0123 a0001c0002t0005g0183 others(1): Show a0001c0001t0002g0220 a0001c0002t0005g0123 a0001c0002t0005g0183 a0002c0003t0001g0182	4	406	0.0099	36	c.-18 others(57): Show c.-188+12216_-188+12251dupCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTC	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
AACS_chr12_125060435_125148316	125114794	A A	AGGCGCCG others(29): Show AGGCGCCGGCCCGTGGCACATGGTAAGGGCTTCCCCG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03098.hp2 NA18522.hp1 HG02145.hp1 HG03098.hp2 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0009	3	364	0.0082	36	c.996 others(51): Show c.996+315_996+350dupCGGCCCGTGGCACATGGTAAGGGCTTCCCC GGGCGC	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
AADACL4_chr1_12639085_12672076	12658139	C C	CCTTCCTT others(29): Show CCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0056 a0001c0002t0004g0056	1	310	0.0032	36	c.386 others(53): Show c.386-3649_386-3648insCCTTCCTTCCTTTCTTTCTTTCTTTCTT TCTTTCTT	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12658139	C C	CCTTCCTT others(29): Show CCTTCCTTTCTTCCTTTCTTCCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	310	0.0032	36	c.386 others(53): Show c.386-3649_386-3648insCCTTTCTTCCTTTCTTCCTTTCTTTCTT TCTTTCTT	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AAK1_chr2_69452997_69648739	69493158	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA20300.hp1 HG03195.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0081 a0001c0006t0028 a0001c0003t0081 a0001c0006t0028	a0001c0003t0081g0080 a0001c0006t0028g0134 a0001c0003t0081g0080 a0001c0006t0028g0134	2	298	0.0067	36	c.236 others(55): Show c.2365+2826_2365+2827insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
AARS1_chr16_70247298_70294506	70269322	G G	GAAAAAAA others(29): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0340 a0002c0004t0001g0340	1	362	0.0028	36	c.962 others(51): Show c.962+260_962+295dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	7/20			chr16	TogoVar
AATK_chr17_81112295_81171221	81138546	G G	GCACACAC others(29): Show GCACACACGTGCACACATACCCCCACACGCACATACC	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA19043.hp2 HG01891.hp1 NA19043.hp2	a0007 a0033 a0007 a0033	a0007c0071 a0033c0039 a0007c0071 a0033c0039	a0007c0071t0001 a0033c0039t0001 a0007c0071t0001 a0033c0039t0001	a0007c0071t0001g0204 a0033c0039t0001g0265 a0007c0071t0001g0204 a0033c0039t0001g0265	2	368	0.0054	36	c.56- others(51): Show c.56-4081_56-4046dupGGTATGTGCGTGTGGGGGTATGTGTGCACG TGTGTG	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	1/13			chr17	TogoVar
ABAT_chr16_8669617_8789570	8737985	G G	GAAGAAAG others(29): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0171 a0001c0001t0003g0171	1	362	0.0028	36	c.70+ others(51): Show c.70+2179_70+2180insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737989	G G	GAAGAAAG others(29): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02622.hp2 HG02630.hp2 others(2): Show HG01993.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0007 a0001c0001 a0002c0002 a0002c0007	a0001c0001t0003 a0002c0002t0007 a0002c0007t0007 others(2): Show a0001c0001t0003 a0002c0002t0007 a0002c0007t0007 a0002c0007t0013 a0002c0007t0014	a0001c0001t0003g0257 a0002c0002t0007g0275 a0002c0007t0007g0247 others(2): Show a0001c0001t0003g0257 a0002c0002t0007g0275 a0002c0007t0007g0247 a0002c0007t0013g0027 a0002c0007t0014g0182	5	362	0.0138	36	c.70+ others(51): Show c.70+2181_70+2182insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737989	G G	GAAGGAAG others(29): Show GAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0012 a0002c0008t0002g0014 a0002c0008t0002g0012 a0002c0008t0002g0014	2	362	0.0055	36	c.70+ others(51): Show c.70+2181_70+2182insAGGAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737989	G G	GAAGGAAG others(29): Show GAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02451.hp2 HG03139.hp2 HG00673.hp1 HG02451.hp2 HG03139.hp2	a0002 a0002	a0002c0005 a0002c0008 a0002c0012 a0002c0005 a0002c0008 a0002c0012	a0002c0005t0003 a0002c0008t0002 a0002c0012t0002 a0002c0005t0003 a0002c0008t0002 a0002c0012t0002	a0002c0005t0003g0207 a0002c0008t0002g0013 a0002c0012t0002g0339 a0002c0005t0003g0207 a0002c0008t0002g0013 a0002c0012t0002g0339	3	362	0.0083	36	c.70+ others(51): Show c.70+2181_70+2182insAGGAAGGAAGAAAGAAAGAAAGAAAGAAAG AAAGAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737989	G G	GAAGGAAG others(29): Show GAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0091	1	362	0.0028	36	c.70+ others(51): Show c.70+2181_70+2182insAGGAAGGAAGGAAGAAAGAAAGAAAGAAAG AAAGAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737989	G G	GAAGGAAG others(29): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	362	0.0028	36	c.70+ others(51): Show c.70+2181_70+2182insAGGAAGGAAGGAAGGAAGGAAGGAAGAAAG AAAGAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8743423	T T	TTATATAA others(29): Show TTATATAAACAGTTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18522.hp2 NA20300.hp2 HG02145.hp1 NA18522.hp2 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0014 a0001c0001 a0004c0014	a0001c0001t0001 a0001c0001t0003 a0004c0014t0001 a0001c0001t0001 a0001c0001t0003 a0004c0014t0001	a0001c0001t0001g0338 a0001c0001t0003g0329 a0004c0014t0001g0041 a0001c0001t0001g0338 a0001c0001t0003g0329 a0004c0014t0001g0041	3	362	0.0083	36	c.71- others(51): Show c.71-2572_71-2571insAACAGTTATATATATATATATATATATATA TATATA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69162838	C C	CATATACA others(29): Show CATATACATATACATATACATATACATATACATATAT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18963.hp2 NA19063.hp1 others(2): Show NA18962.hp2 NA18963.hp2 NA19063.hp1 NA19078.hp1 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0018 a0002c0002t0001g0025 others(2): Show a0002c0002t0001g0016 a0002c0002t0001g0018 a0002c0002t0001g0025 a0002c0002t0001g0124 a0002c0002t0001g0228	5	348	0.0144	36	c.336 others(55): Show c.3363+1235_3363+1236insATATATGTATATGTATATGTATATGT ATATGTATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	27/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69210847	C C	CACATATA others(29): Show CACATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0019 a0019	a0019c0037 a0019c0037	a0019c0037t0007 a0019c0037t0007	a0019c0037t0007g0331 a0019c0037t0007g0331	1	348	0.0029	36	c.100 others(55): Show c.1006+3856_1006+3857insATATATATATATATATATATATATAT ATATATATGT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69210847	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00733.hp2 HG01433.hp2 others(1): Show HG00609.hp2 HG00733.hp2 HG01433.hp2 NA18974.hp2	a0004 a0004	a0004c0004 a0004c0006 a0004c0004 a0004c0006	a0004c0004t0003 a0004c0006t0003 a0004c0004t0003 a0004c0006t0003	a0004c0004t0003g0007 a0004c0004t0003g0233 a0004c0004t0003g0239 others(1): Show a0004c0004t0003g0007 a0004c0004t0003g0233 a0004c0004t0003g0239 a0004c0006t0003g0034	4	348	0.0115	36	c.100 others(55): Show c.1006+3856_1006+3857insATATATATATATATATATATATATAT ATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA12_chr2_214926542_215143626	214932627	G G	GGAAGTGT others(29): Show GGAAGTGTAAAGACCTCCCCACCCAGGACATCTCTGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0023 a0001c0006t0023	a0001c0006t0023g0146 a0001c0006t0023g0146	1	198	0.0051	36	c.6_ others(41): Show c.6_*7insTCAGAGATGTCCTGGGTGGGGAGGTCTTTACACTTC	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	53/53	6		chr2	TogoVar
ABCA12_chr2_214926542_215143626	214989187	C C	CATACATA others(29): Show CATACATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01934.hp2 HG02738.hp2 HG00140.hp1 HG01934.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0002 a0001c0001t0002 a0001c0006t0002	a0001c0001t0002g0121 a0001c0001t0002g0150 a0001c0006t0002g0135 a0001c0001t0002g0121 a0001c0001t0002g0150 a0001c0006t0002g0135	3	198	0.0152	36	c.382 others(53): Show c.3829+141_3829+142insATATATATATATATATATATATATATAT ATATGTAT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	26/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215134288	G G	GTATATGT others(29): Show GTATATGTACATATATACGTATATGTGTATATATGTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp2 HG01123.hp2 others(25): Show HG00140.hp2 HG00741.hp2 HG01123.hp2 HG01255.hp2 HG01258.hp1 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG02004.hp1 HG02055.hp2 HG02257.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03490.hp2 HG03492.hp1 NA18522.hp2 NA18906.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0020	a0001c0004 a0001c0005 a0001c0011 others(11): Show a0001c0004 a0001c0005 a0001c0011 a0001c0012 a0001c0016 a0002c0007 a0003c0014 a0003c0020 a0003c0065 a0003c0066 a0004c0018 a0006c0019 a0007c0024 a0020c0036	a0001c0004t0001 a0001c0005t0005 a0001c0011t0001 others(14): Show a0001c0004t0001 a0001c0005t0005 a0001c0011t0001 a0001c0011t0005 a0001c0012t0014 a0001c0016t0002 a0002c0007t0002 a0003c0014t0002 a0003c0014t0006 a0003c0020t0001 a0003c0020t0003 a0003c0065t0001 a0003c0066t0004 a0004c0018t0005 a0006c0019t0001 a0007c0024t0005 a0020c0036t0001	a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0005t0005g0109 others(25): Show a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0005t0005g0109 a0001c0005t0005g0110 a0001c0005t0005g0111 a0001c0011t0001g0085 a0001c0011t0001g0087 a0001c0011t0005g0088 a0001c0011t0005g0089 a0001c0012t0014g0097 a0001c0016t0002g0086 a0001c0016t0002g0090 a0002c0007t0002g0105 a0003c0014t0002g0101 a0003c0014t0006g0098 a0003c0014t0006g0102 a0003c0014t0006g0107 a0003c0020t0001g0106 a0003c0020t0003g0108 a0003c0065t0001g0103 a0003c0066t0004g0104 a0004c0018t0005g0095 a0006c0019t0001g0096 a0006c0019t0001g0099 a0006c0019t0001g0100 a0007c0024t0005g0093 a0007c0024t0005g0094 a0020c0036t0001g0084	28	198	0.1414	36	c.69+ others(51): Show c.69+3816_69+3851dupTACATATATACACATATACGTATATATGTA CATATA	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	1/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215134407	T T	TGTATATA others(29): Show TGTATATATGTACATATATGTATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA19007.hp1 NA19066.hp2 HG02572.hp2 NA19007.hp1 NA19066.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0001c0003 a0005c0063 a0001c0002 a0001c0003 a0005c0063	a0001c0002t0001 a0001c0003t0001 a0005c0063t0003 a0001c0002t0001 a0001c0003t0001 a0005c0063t0003	a0001c0002t0001g0058 a0001c0003t0001g0036 a0005c0063t0003g0079 a0001c0002t0001g0058 a0001c0003t0001g0036 a0005c0063t0003g0079	3	198	0.0152	36	c.69+ others(51): Show c.69+3697_69+3732dupGTATATATACACATATACATATATGTACAT ATATAC	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	1/52			chr2	TogoVar
ABCA5_chr17_69239311_69332133	69273447	C C	CTATTTAT others(29): Show CTATTTATTTATTTATTTATTTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0178 a0002c0001t0004g0178	1	350	0.0029	36	c.276 others(53): Show c.2764+511_2764+512insAATAAATAAATAAATAAATAAATAAATA AATAAATA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	20/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69298316	G G	GAGGAAGG others(29): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0327 a0001c0004t0005g0327	1	350	0.0029	36	c.126 others(53): Show c.1268-958_1268-957insTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	9/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303807	T T	TATATATA others(29): Show TATATATATATATATATACACATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01346.hp2 HG01515.hp1 others(7): Show HG01070.hp2 HG01346.hp2 HG01515.hp1 HG02257.hp1 HG02735.hp1 HG06807.hp2 NA18522.hp1 NA18949.hp1 NA19003.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0008 a0001c0002 a0001c0006 a0001c0008	a0001c0002t0001 a0001c0006t0007 a0001c0008t0001 a0001c0002t0001 a0001c0006t0007 a0001c0008t0001	a0001c0002t0001g0045 a0001c0002t0001g0066 a0001c0002t0001g0083 others(7): Show a0001c0002t0001g0045 a0001c0002t0001g0066 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0155 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0215 a0001c0006t0007g0054 a0001c0008t0001g0053	10	350	0.0286	36	c.930 others(51): Show c.930+861_930+862insGTGTATATATATATATGTGTATATATATAT ATATAT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303827	T T	TACACACA others(29): Show TACACACACATATATATATATACATACATATATATAC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0324 a0001c0004t0005g0325 a0001c0004t0005g0324 a0001c0004t0005g0325	2	350	0.0057	36	c.930 others(51): Show c.930+841_930+842insGTATATATATGTATGTATATATATATATGT GTGTGT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA6_chr17_69073702_69146895	69086486	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0198 a0002c0002t0002g0198	1	326	0.0031	36	c.393 others(53): Show c.3937+131_3937+132insATATATATATATATATATATATATATAT ATATATAT	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	30/38			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68887911	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	274	0.0037	36	c.314 others(53): Show c.3145-406_3145-405insGGATATATATATATATATATATATATAT ATATATAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	24/39			chr17	TogoVar
ABCC1_chr16_15944616_16148053	15999836	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTGTCTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	249	0.0040	36	c.49- others(51): Show c.49-7977_49-7976insCTCTCTCTCTCTCTGTCTCTTTCTTTCTTT CTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	15999836	C C	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0025 a0003c0025	a0003c0025t0006 a0003c0025t0006	a0003c0025t0006g0001 a0003c0025t0006g0001	1	249	0.0040	36	c.49- others(51): Show c.49-7977_49-7942dupTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16124335	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02970.hp1 HG03540.hp2 HG00408.hp1 HG02970.hp1 HG03540.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0003 a0007c0027 a0001c0001 a0001c0003 a0007c0027	a0001c0001t0004 a0001c0003t0003 a0007c0027t0001 a0001c0001t0004 a0001c0003t0003 a0007c0027t0001	a0001c0001t0004g0111 a0001c0003t0003g0161 a0007c0027t0001g0029 a0001c0001t0004g0111 a0001c0003t0003g0161 a0007c0027t0001g0029	3	249	0.0121	36	c.359 others(53): Show c.3591-440_3591-439insTGTGTGTGTGTATGTGTGTGTATGTGTG TGTGTGTG	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	24/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC2_chr10_99777640_99857594	99778449	C C	CAGAGAGA others(29): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG02970.hp1 others(1): Show HG01109.hp1 HG01891.hp2 HG02970.hp1 HG03139.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0017 a0006c0009 a0001c0001 a0001c0017 a0006c0009	a0001c0001t0001 a0001c0017t0001 a0006c0009t0001 a0001c0001t0001 a0001c0017t0001 a0006c0009t0001	a0001c0001t0001g0162 a0001c0017t0001g0165 a0006c0009t0001g0155 others(1): Show a0001c0001t0001g0162 a0001c0017t0001g0165 a0006c0009t0001g0155 a0006c0009t0001g0178	4	336	0.0119	36	c.-43 others(47): Show c.-4396_-4395insAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGAG AG	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding		4190		chr10	TogoVar
ABCC2_chr10_99777640_99857594	99778449	C C	CAGAGAGA others(29): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	336	0.0030	36	c.-43 others(47): Show c.-4396_-4395insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAG AG	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding		4190		chr10	TogoVar
ABCC2_chr10_99777640_99857594	99814183	G G	GTATACAC others(29): Show GTATACACACATGTGTATATATACACACATGTGTATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0002 a0001c0035t0002	a0001c0035t0002g0044 a0001c0035t0002g0044	1	336	0.0030	36	c.209 others(55): Show c.2094+1061_2094+1096dupACACACATGTGTATATATACACACAT GTGTATATAT	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99814256	T T	TACACACA others(29): Show TACACACACGTATGTATACACACATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	336	0.0030	36	c.209 others(55): Show c.2094+1118_2094+1119insACGTATGTATACACACATGTGTATAT ATACACACAC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99814525	A A	ATATACAC others(29): Show ATATACACATATACACACACATATGTGTATGTATGTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02717.hp2 HG02630.hp1 HG02717.hp2	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0001 a0011c0015t0001	a0011c0015t0001g0014 a0011c0015t0001g0015 a0011c0015t0001g0014 a0011c0015t0001g0015	2	336	0.0060	36	c.209 others(55): Show c.2094+1385_2094+1386insCACATATACACACACATATGTGTATG TATGTGTATA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC3_chr17_50629881_50697253	50673978	T T	TTCTTTCT others(29): Show TTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTCTC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	342	0.0029	36	c.259 others(53): Show c.2599+323_2599+324insTTCTTTCTTTCTCTTTCTTTCTTTCTTT CTCTCTCT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50674034	C C	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	342	0.0029	36	c.259 others(53): Show c.2599+382_2599+417dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC6_chr16_16144565_16228494	16172318	T T	TGGGTGGG others(29): Show TGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAA	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0034 a0034	a0034c0063 a0034c0063	a0034c0063t0001 a0034c0063t0001	a0034c0063t0001g0170 a0034c0063t0001g0170	1	357	0.0028	36	c.278 others(53): Show c.2787+965_2787+966insTTATCCATCCCACCCACTCATTTATCCA TCCCACCC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172318	T T	TGGGTGGG others(29): Show TGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18971.hp2 NA18949.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0337 a0001c0001t0001g0313 a0001c0001t0001g0337	2	357	0.0056	36	c.278 others(53): Show c.2787+965_2787+966insTTATCCATCCCACCCACCCATTTATCCA TCCCACCC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172318	T T	TGGGTGGG others(29): Show TGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00558.hp2 others(67): Show HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00673.hp1 HG00733.hp1 HG01109.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01978.hp1 HG01981.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp2 HG02155.hp1 HG02257.hp1 HG02300.hp2 HG02451.hp1 HG02572.hp1 HG02622.hp1 HG02647.hp2 HG02723.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03831.hp1 HG03831.hp2 HG04204.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18944.hp1 NA18947.hp1 NA18953.hp2 NA18959.hp1 NA18964.hp1 NA18968.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18983.hp2 NA18985.hp2 NA18990.hp2 NA18993.hp1 NA19000.hp2 NA19005.hp1 NA19056.hp2 NA19060.hp2 NA19064.hp2 NA19074.hp1 NA19077.hp1 NA19081.hp1 NA20905.hp1	a0001 a0002 a0006 others(8): Show a0001 a0002 a0006 a0012 a0013 a0015 a0016 a0021 a0029 a0030 a0035	a0001c0001 a0001c0004 a0001c0006 others(17): Show a0001c0001 a0001c0004 a0001c0006 a0001c0033 a0001c0052 a0002c0003 a0002c0014 a0002c0022 a0002c0024 a0002c0074 a0006c0009 a0012c0025 a0012c0030 a0013c0050 a0015c0019 a0016c0036 a0021c0079 a0029c0058 a0030c0046 a0035c0062	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 others(19): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0001c0033t0001 a0001c0052t0001 a0002c0003t0001 a0002c0014t0001 a0002c0022t0001 a0002c0024t0001 a0002c0074t0001 a0006c0009t0001 a0012c0025t0001 a0012c0030t0001 a0013c0050t0001 a0015c0019t0001 a0016c0036t0001 a0021c0079t0001 a0029c0058t0001 a0030c0046t0001 a0035c0062t0001	a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0136 others(67): Show a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0226 a0001c0001t0001g0234 a0001c0001t0001g0308 a0001c0001t0001g0334 a0001c0001t0004g0071 a0001c0001t0004g0181 a0001c0004t0001g0208 a0001c0004t0001g0209 a0001c0004t0001g0212 a0001c0004t0002g0106 a0001c0006t0001g0290 a0001c0006t0001g0291 a0001c0006t0001g0329 a0001c0033t0001g0070 a0001c0052t0001g0283 a0002c0003t0001g0002 a0002c0003t0001g0013 a0002c0003t0001g0074 a0002c0003t0001g0080 a0002c0003t0001g0081 a0002c0003t0001g0084 a0002c0003t0001g0123 a0002c0003t0001g0141 a0002c0003t0001g0151 a0002c0003t0001g0167 a0002c0003t0001g0168 a0002c0003t0001g0175 a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0001g0224 a0002c0003t0001g0225 a0002c0003t0001g0232 a0002c0003t0001g0257 a0002c0003t0001g0261 a0002c0003t0001g0267 a0002c0003t0001g0316 a0002c0003t0001g0320 a0002c0003t0001g0333 a0002c0003t0001g0350 a0002c0014t0001g0284 a0002c0014t0001g0288 a0002c0014t0001g0289 a0002c0014t0001g0328 a0002c0022t0001g0095 a0002c0022t0001g0345 a0002c0024t0001g0154 a0002c0074t0001g0185 a0006c0009t0001g0044 a0006c0009t0001g0048 a0006c0009t0001g0050 a0012c0025t0001g0007 a0012c0025t0001g0008 a0012c0030t0001g0274 a0013c0050t0001g0040 a0015c0019t0001g0122 a0015c0019t0001g0124 a0015c0019t0001g0125 a0016c0036t0001g0344 a0021c0079t0001g0238 a0029c0058t0001g0164 a0030c0046t0001g0304 a0035c0062t0001g0315	70	357	0.1961	36	c.278 others(53): Show c.2787+965_2787+966insTTATCCATCCCACCCACTCATTTAGCCA TCCCACCC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172318	T T	TGGGTGGG others(29): Show TGGGTGGGATGGCTAAATGAGTGGGTGGGATGGCTAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0031 a0031	a0031c0060 a0031c0060	a0031c0060t0010 a0031c0060t0010	a0031c0060t0010g0240 a0031c0060t0010g0240	1	357	0.0028	36	c.278 others(53): Show c.2787+965_2787+966insTTAGCCATCCCACCCACTCATTTAGCCA TCCCACCC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABCG1_chr21_42214140_42302244	42245818	T T	TGGGGCAC others(29): Show TGGGGCACCAGGCAGCAGACTCTGATGAGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(141): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18942.hp2 NA18943.hp2 NA18948.hp2 NA18956.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18994.hp2 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19010.hp2 NA19011.hp1 NA19043.hp2 NA19070.hp2 NA19074.hp2 NA19087.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0025 a0001c0001t0028 a0001c0002t0002 a0001c0002t0004 a0001c0002t0016 a0001c0003t0005 a0001c0003t0006 a0001c0004t0003 a0001c0005t0008 a0001c0008t0011	a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0083 others(137): Show a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0122 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0159 a0001c0001t0001g0168 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0254 a0001c0001t0001g0260 a0001c0001t0001g0297 a0001c0001t0001g0317 a0001c0001t0001g0336 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0090 a0001c0001t0002g0104 a0001c0001t0002g0110 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0230 a0001c0001t0002g0236 a0001c0001t0002g0245 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0002g0293 a0001c0001t0002g0299 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0308 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0003g0002 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0079 a0001c0001t0003g0084 a0001c0001t0003g0100 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0130 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0149 a0001c0001t0003g0174 a0001c0001t0003g0261 a0001c0001t0003g0298 a0001c0001t0003g0300 a0001c0001t0004g0003 a0001c0001t0004g0169 a0001c0001t0004g0182 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0004g0313 a0001c0001t0004g0329 a0001c0001t0005g0001 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0040 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0006g0012 a0001c0001t0006g0028 a0001c0001t0006g0033 a0001c0001t0006g0034 a0001c0001t0006g0036 a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0063 a0001c0001t0006g0064 a0001c0001t0006g0287 a0001c0001t0007g0031 a0001c0001t0007g0032 a0001c0001t0007g0035 a0001c0001t0007g0046 a0001c0001t0009g0085 a0001c0001t0009g0275 a0001c0001t0009g0322 a0001c0001t0009g0323 a0001c0001t0010g0144 a0001c0001t0010g0292 a0001c0001t0011g0039 a0001c0001t0011g0043 a0001c0001t0011g0045 a0001c0001t0011g0057 a0001c0001t0012g0315 a0001c0001t0013g0294 a0001c0001t0013g0295 a0001c0001t0014g0061 a0001c0001t0014g0062 a0001c0001t0015g0285 a0001c0001t0017g0005 a0001c0001t0021g0008 a0001c0001t0025g0070 a0001c0001t0028g0306 a0001c0002t0002g0078 a0001c0002t0002g0270 a0001c0002t0002g0330 a0001c0002t0002g0331 a0001c0002t0002g0332 a0001c0002t0004g0274 a0001c0002t0016g0343 a0001c0003t0005g0041 a0001c0003t0005g0052 a0001c0003t0006g0044 a0001c0004t0003g0074 a0001c0004t0003g0126 a0001c0004t0003g0127 a0001c0005t0008g0131 a0001c0008t0011g0042	144	354	0.4068	36	c.286 others(55): Show c.286+19937_286+19972dupGGAGGGGGCACCAGGCAGCAGACTCT GATGAGGAGG	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42299528	C C	CCATCCCC others(29): Show CCATCCCCCCCCGCCCCCCCCCCCCCCCCCCCCCCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0131 a0001c0005t0008g0131	1	354	0.0028	36	c.31 others(47): Show c.3136_*3137insCATCCCCCCCCGCCCCCCCCCCCCCCCCCCCCCC TA	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding		2285		chr21	TogoVar
ABCG2_chr4_88085269_88163639	88115232	G G	GTCTCTCT others(29): Show GTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01256.hp2 HG01943.hp2 others(6): Show HG00438.hp2 HG01256.hp2 HG01943.hp2 HG02135.hp2 HG02698.hp2 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA19003.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0002c0004 others(2): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0004c0006	a0001c0001t0001 a0002c0002t0002 a0002c0004t0001 others(2): Show a0001c0001t0001 a0002c0002t0002 a0002c0004t0001 a0003c0003t0001 a0004c0006t0001	a0001c0001t0001g0176 a0001c0001t0001g0219 a0001c0001t0001g0238 others(6): Show a0001c0001t0001g0176 a0001c0001t0001g0219 a0001c0001t0001g0238 a0001c0001t0001g0244 a0001c0001t0001g0269 a0002c0002t0002g0280 a0002c0004t0001g0206 a0003c0003t0001g0218 a0004c0006t0001g0239	9	350	0.0257	36	c.842 others(51): Show c.842-175_842-174insGAGAGAGAGAGAGAGAGAGACAGAGAGAGA GAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18965.hp2 HG02055.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0204 a0001c0001t0001g0007 a0001c0001t0001g0204	2	350	0.0057	36	c.842 others(51): Show c.842-199_842-198insTATATATATAGAGAGAGAGAGAGAGAGAGA GAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02004.hp2 HG04115.hp1 others(3): Show HG01257.hp1 HG02004.hp2 HG04115.hp1 NA18612.hp2 NA18747.hp2 NA18982.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0003 a0006c0008 a0001c0001 a0003c0003 a0006c0008	a0001c0001t0001 a0001c0001t0004 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0003c0003t0001 a0006c0008t0001	a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0230 others(3): Show a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0230 a0001c0001t0004g0338 a0003c0003t0001g0308 a0006c0008t0001g0050	6	350	0.0171	36	c.842 others(51): Show c.842-199_842-198insTATATATAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18970.hp2 NA18979.hp1 others(7): Show NA18951.hp1 NA18970.hp2 NA18979.hp1 NA18981.hp2 NA19000.hp2 NA19003.hp1 NA19060.hp2 NA19078.hp1 NA19079.hp1 NA19085.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003	a0001c0001t0001 a0001c0001t0007 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0007 a0002c0002t0001 a0002c0004t0007 a0003c0003t0001	a0001c0001t0001g0185 a0001c0001t0007g0343 a0002c0002t0001g0048 others(7): Show a0001c0001t0001g0185 a0001c0001t0007g0343 a0002c0002t0001g0048 a0002c0004t0007g0342 a0002c0004t0007g0344 a0003c0003t0001g0287 a0003c0003t0001g0299 a0003c0003t0001g0301 a0003c0003t0001g0303 a0003c0003t0001g0306	10	350	0.0286	36	c.842 others(51): Show c.842-199_842-198insTATATAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01346.hp1 NA18960.hp2 others(2): Show HG01071.hp2 HG01346.hp1 NA18960.hp2 NA19060.hp1 NA19090.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003	a0001c0001t0001 a0002c0002t0002 a0002c0004t0001 others(1): Show a0001c0001t0001 a0002c0002t0002 a0002c0004t0001 a0003c0003t0001	a0001c0001t0001g0184 a0001c0001t0001g0226 a0002c0002t0002g0052 others(2): Show a0001c0001t0001g0184 a0001c0001t0001g0226 a0002c0002t0002g0052 a0002c0004t0001g0208 a0003c0003t0001g0305	5	350	0.0143	36	c.842 others(51): Show c.842-199_842-198insTATAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88147016	G G	GGAAAGAA others(29): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01261.hp2 HG01516.hp1 others(11): Show HG01106.hp1 HG01261.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp2 HG01981.hp2 HG02040.hp1 HG02148.hp2 HG02451.hp1 HG02698.hp1 HG03490.hp1 HG03516.hp2 HG03831.hp2 NA19062.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0012	a0001c0001t0001g0071 a0001c0001t0001g0126 a0001c0001t0001g0127 others(11): Show a0001c0001t0001g0071 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0171 a0002c0002t0002g0086 a0002c0002t0012g0273	14	350	0.0400	36	c.-19 others(53): Show c.-19-7003_-19-7002insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	1/15			chr4	TogoVar

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