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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
ODF3_chr11_191761_205258	196092	GGGGGACC others(159): Show GGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGACATA GGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTT GGTGAGGAGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGAC CTGGTGAGGGGACATGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	388	0.0026	-166	c.-96 others(9): Show c.-962_-797del	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		668		chr11	TogoVar
PARD3B_chr2_204540475_205625162	204998338	ATATATAT others(159): Show ATATATATATATATATATATATGTGTGTGTGTGTGTGTATATATGTGTGT GTATATATGTATATATGTGTATATATATGTATATATGTGTATATATATGT GTGTGTATATATATGTGTATATTATATATGTATATATATGTGTATATAAT ATATGTATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02257.hp2 others(3): Show HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02630.hp2 HG02723.hp2 HG02976.hp1	a0002 a0005 a0009 a0002 a0005 a0009	a0002c0001 a0002c0003 a0002c0015 others(2): Show a0002c0001 a0002c0003 a0002c0015 a0005c0013 a0009c0025	a0002c0001t0002 a0002c0001t0010 a0002c0003t0003 others(3): Show a0002c0001t0002 a0002c0001t0010 a0002c0003t0003 a0002c0015t0006 a0005c0013t0003 a0009c0025t0022	a0002c0001t0002g0019 a0002c0001t0010g0050 a0002c0003t0003g0047 others(3): Show a0002c0001t0002g0019 a0002c0001t0010g0050 a0002c0003t0003g0047 a0002c0015t0006g0024 a0005c0013t0003g0002 a0009c0025t0022g0009	6	54	0.1111	-166	c.394 others(19): Show c.394+33027_394+33192del	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PCMTD2_chr20_64250748_64281226	64278003	GTCCCTTT others(159): Show GTCCCTTTGACCTAGGAGGGCCCTGGGCAGCTGGGCACTGGGTGGTTAGA GCAGGGGTGGAGTCAGACCACACGGGCAGGACGTCCCTTTGATCTAGGAG GGCTCTGGGCAGCTGGGCACTGGGTGGTTAGAGCAGGGGTGGAGTCATAG ACCACACGGGCAGGGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG01168.hp1 others(9): Show HG00099.hp1 HG00741.hp1 HG01168.hp1 HG01169.hp1 HG01358.hp2 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG03654.hp1 NA19030.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011	a0001c0001t0005g0007 a0001c0001t0005g0032 a0001c0001t0005g0077 others(4): Show a0001c0001t0005g0007 a0001c0001t0005g0032 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0005g0116 a0001c0001t0009g0007 a0001c0001t0011g0046	12	332	0.0361	-166	c.44 others(11): Show c.4404_*4569del	PCMTD2	ENSG00000203880.13	transcript	ENST00000308824.11	protein_coding		1778		chr20	TogoVar
PIP4K2A_chr10_22529854_22719578	22664038	TATATATA others(159): Show TATATATATACATATGTATATATACATATATATATATACGTATATATATA TACATATATATATATACATATATATATACATATATATATATACATATATA TATACATATATATACACATATATATATATACATATATATATATACATATA TATACATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0030 a0001c0007t0030	a0001c0007t0030g0199 a0001c0007t0030g0199	1	206	0.0049	-166	c.144 others(19): Show c.144+49979_144+50144del	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22664052	TGTATATA others(159): Show TGTATATATACATATATATATATACGTATATATATATACATATATATATA TACATATATATATACATATATATATATACATATATATATACATATATATA CACATATATATATATACATATATATATATACATATATATACATATATATA TACATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02615.hp2 HG02630.hp1 others(2): Show HG02451.hp1 HG02615.hp2 HG02630.hp1 HG03209.hp2 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0003c0014	a0001c0001t0005 a0001c0001t0021 a0001c0002t0035 others(2): Show a0001c0001t0005 a0001c0001t0021 a0001c0002t0035 a0001c0007t0005 a0003c0014t0016	a0001c0001t0005g0196 a0001c0001t0021g0191 a0001c0002t0035g0015 others(2): Show a0001c0001t0005g0196 a0001c0001t0021g0191 a0001c0002t0035g0015 a0001c0007t0005g0193 a0003c0014t0016g0190	5	206	0.0243	-166	c.144 others(19): Show c.144+49965_144+50130del	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PITPNM3_chr17_6446263_6561555	6519181	CAAAAAAT others(159): Show CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00544.hp2 others(53): Show HG00280.hp1 HG00408.hp2 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01167.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02135.hp1 HG02165.hp1 HG02300.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02809.hp1 HG03209.hp1 HG03491.hp2 HG03710.hp2 HG04199.hp1 HG04228.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18951.hp2 NA18970.hp1 NA18975.hp1 NA19030.hp1 NA19070.hp2 NA19081.hp2 NA19088.hp2 NA20300.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0001c0014 a0001c0022 a0001c0024 a0002c0004 a0002c0009 a0005c0019 a0005c0020 a0008c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0020 a0001c0001t0026 a0001c0001t0045 a0001c0001t0066 a0001c0001t0085 a0001c0001t0096 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0031 a0001c0002t0055 a0001c0002t0069 a0001c0002t0073 a0001c0003t0040 a0001c0003t0076 a0001c0006t0002 a0001c0006t0005 a0001c0006t0009 a0001c0006t0012 a0001c0006t0016 a0001c0006t0053 a0001c0006t0054 a0001c0006t0064 a0001c0006t0065 a0001c0007t0035 a0001c0010t0003 a0001c0010t0072 a0001c0011t0036 a0001c0014t0019 a0001c0022t0003 a0001c0024t0087 a0002c0004t0008 a0002c0004t0014 a0002c0004t0025 a0002c0004t0044 a0002c0009t0090 a0005c0019t0003 a0005c0020t0016 a0008c0017t0005	a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0137 others(53): Show a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0137 a0001c0001t0001g0162 a0001c0001t0001g0180 a0001c0001t0002g0071 a0001c0001t0007g0109 a0001c0001t0010g0147 a0001c0001t0011g0184 a0001c0001t0015g0029 a0001c0001t0020g0186 a0001c0001t0026g0148 a0001c0001t0045g0138 a0001c0001t0066g0045 a0001c0001t0085g0076 a0001c0001t0096g0208 a0001c0002t0001g0059 a0001c0002t0001g0104 a0001c0002t0002g0043 a0001c0002t0002g0088 a0001c0002t0003g0047 a0001c0002t0003g0050 a0001c0002t0003g0211 a0001c0002t0031g0132 a0001c0002t0055g0103 a0001c0002t0069g0218 a0001c0002t0073g0085 a0001c0003t0040g0125 a0001c0003t0076g0191 a0001c0006t0002g0011 a0001c0006t0005g0048 a0001c0006t0009g0013 a0001c0006t0009g0053 a0001c0006t0009g0083 a0001c0006t0012g0105 a0001c0006t0016g0046 a0001c0006t0053g0051 a0001c0006t0054g0014 a0001c0006t0064g0015 a0001c0006t0065g0012 a0001c0007t0035g0072 a0001c0010t0003g0139 a0001c0010t0003g0140 a0001c0010t0072g0017 a0001c0011t0036g0170 a0001c0014t0019g0001 a0001c0022t0003g0019 a0001c0024t0087g0127 a0002c0004t0008g0135 a0002c0004t0014g0056 a0002c0004t0025g0052 a0002c0004t0044g0081 a0002c0009t0090g0002 a0005c0019t0003g0058 a0005c0020t0016g0087 a0008c0017t0005g0126	56	218	0.2569	-166	c.226 others(17): Show c.226+6009_226+6174del	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	3/19			chr17	TogoVar
PJA2_chr5_109329722_109414974	109353830	CTAGAGAT others(159): Show CTAGAGATATCTATAGATTAGATGTCTATGATATCTAGAGATATCTATAG ATTAGATGTCTATGATATCTAGAGATATCTATAGATTAGATGTCTATGAT ATCTAGAGATATCTATAGATTAGATGTCTATGATATCTAGAGATATCTAT AGATTAGATAGATATCT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02257.hp2 HG02300.hp1 others(1): Show HG02071.hp2 HG02257.hp2 HG02300.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0001t0006g0013 others(1): Show a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0001t0006g0013 a0001c0001t0006g0287	4	346	0.0116	-166	c.176 others(19): Show c.1764+1919_1764+2084del	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PKHD1_chr6_51610299_52092613	51802157	GAAATCAG others(159): Show GAAATCAGAGTGGACGACATGGCATTGCCATTTAAACCAAGGTCTATAGT TGTCACCTTGCTCAGATGGCTCAAGGCAAAAACAACAACAACAACAATCA AACAAACAAAAAACCTAGACCTTGCAATCCCCAGAAGACCTAAAAAGGAA CAATATGCATTTTGATA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp1 HG02486.hp1 others(4): Show HG02055.hp1 HG02280.hp1 HG02486.hp1 HG02818.hp1 HG02976.hp2 HG03486.hp2 HG03516.hp2	a0002 a0004 a0006 others(3): Show a0002 a0004 a0006 a0009 a0030 a0041	a0002c0005 a0004c0006 a0006c0076 others(3): Show a0002c0005 a0004c0006 a0006c0076 a0009c0054 a0030c0055 a0041c0088	a0002c0005t0002 a0004c0006t0002 a0006c0076t0005 others(3): Show a0002c0005t0002 a0004c0006t0002 a0006c0076t0005 a0009c0054t0001 a0030c0055t0002 a0041c0088t0006	a0002c0005t0002g0021 a0004c0006t0002g0048 a0004c0006t0002g0055 others(4): Show a0002c0005t0002g0021 a0004c0006t0002g0048 a0004c0006t0002g0055 a0006c0076t0005g0088 a0009c0054t0001g0082 a0030c0055t0002g0072 a0041c0088t0006g0114	7	134	0.0522	-166	c.830 others(21): Show c.8303-10950_8303-10785del	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	52/66			chr6	TogoVar
PLD5_chr1_242077986_242529697	242393494	ATATGTGT others(159): Show ATATGTGTATATATGAGTATATATATATGTGTATATATGTGAGTATATAT ATGTGTATATATATGAGTATATATGTGTATATATATGAGTATACATATGT GTATATATATGAGCATATATGTGTATATATATGAGTATATATATGTGTAT ATATATGAGTATATATG	A A	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18970.hp2 HG02027.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0074 a0001c0001t0010 a0001c0002t0074	a0001c0001t0010g0084 a0001c0002t0074g0163 a0001c0001t0010g0084 a0001c0002t0074g0163	2	188	0.0106	-166	c.190 others(19): Show c.190-45418_190-45253del	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLEKHG4B_chr5_87168_194966	165160	GCTCTGAC others(159): Show GCTCTGACGGGGCGGGGCTCACAGTACTCCTCTGACGGGGCGGAGCTCAC ACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGG GCTCACTAATGCTCTGACGGGGCGGGGCTCACACTAACGCTCTGACGGGG CGGGGCTCACAGTAATC	G G	intron_variant intron_variant	MODIFIER	HG01928.hp2 NA18747.hp2 HG01928.hp2 NA18747.hp2	a0002 a0030 a0002 a0030	a0002c0039 a0030c0047 a0002c0039 a0030c0047	a0002c0039t0009 a0030c0047t0131 a0002c0039t0009 a0030c0047t0131	a0002c0039t0009g0030 a0030c0047t0131g0067 a0002c0039t0009g0030 a0030c0047t0131g0067	2	210	0.0095	-166	c.347 others(19): Show c.3476+1627_3476+1792del	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPP6R2_chr22_50338327_50450090	50339581	GTGGTGTG others(159): Show GTGGTGTGTGTGGTATGGTGTGTGCGGTGTGTGTGGTATGTAGTGTGTGT TATGTGGTGTGTGTGTAGGGTGTGTGGTGTATGTTTCGAGTGTGTGTTGT GTGTGGTGTGATTGGTGTGTAGTGTGTGGTGTGTGTAGGGTGTGTGTTGT GTGTGTGGTATATAGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	340	0.0029	-166	c.-41 others(11): Show c.-4116_-3951del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding		3745		chr22	TogoVar
PRKG1_chr10_51069487_52303350	51858150	TATATAAT others(159): Show TATATAATATATATTATATATATACATATTATACATATATATAATATATA TTATATATATACATATTATACATATATATAATATATATTATATATAATAC ATATTATACATATATATAATATTATACATATGTATAATTATACATATGTA TAATATATATATGTATA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	64	0.0156	-166	c.699 others(19): Show c.699-49352_699-49187del	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PVALB_chr22_36795703_36822035	36800011	TCCATCCC others(159): Show TCCATCCCCCCACCCATCCACCCATTCATCCATCGTCCATTCACCCACCC ATCCATCCATTTACCCATCTGCCCACCCATCTACTCACCCATCCATCTAT CCATCTATCCACCCACCCATCCACCCACCCATTCATCTACCCACCCATCC ATCCATCCATTCATCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00423.hp1 others(196): Show HG00099.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03942.hp1 HG04184.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA18991.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(118): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0002g0182 a0001c0001t0003g0175 a0001c0001t0003g0176 a0002c0002t0001g0070	199	421	0.4727	-166	c.71 others(9): Show c.713_*878del	PVALB	ENSG00000100362.13	transcript	ENST00000417718.7	protein_coding		691		chr22	TogoVar
RGS7_chr1_240770514_241362205	241078319	GTGTGTGT others(159): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGGCATAAACTGATACTACAAAAGC ACAGATCACCAAAATAGTATATATAAAATATATATACAGCATATTATGTA TTATATAATATGTGGTCTGTGGTCCTAGATATCTATACACACATAATGCA CACACACACGTAAGTTA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	112	0.0089	-166	c.175 others(19): Show c.175+20181_175+20346del	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RIC8B_chr12_106769682_106894316	106782039	TATCTATT others(159): Show TATCTATTTAAAAAAAATTTTTATTATGAAAACAATATACCAACAATGAG TCTTCTTTTTAAAAAATTGCTACATAATATTTTGTCAGGTGAATATATTA TGTATAATAGAATACTGTCACATGCATAACATTCCGTCAGTCTCCTGTTG GTTATTCCAGTTCTCGC	T T	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0271	1	318	0.0031	-166	c.85- others(15): Show c.85-1957_85-1792del	RIC8B	ENSG00000111785.21	transcript	ENST00000392837.9	protein_coding	1/9			chr12	TogoVar
RPS6KA6_chrX_84053350_84193199	84191603	CATATATA others(159): Show CATATATATATCCATATATATATATCCATATATATATATCCATATATATA TATCCATATATATATATCCATATATATATATCCATATATATATATCCATA TATATATATCCATATATATATATCCATATATATATATCCATATATATATC CATATATATATATCCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01074.hp1 HG02895.hp1 others(4): Show HG00642.hp1 HG01074.hp1 HG02895.hp1 HG03486.hp1 HG03516.hp1 HG04184.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0054 a0001c0001t0091 others(3): Show a0001c0001t0013 a0001c0001t0054 a0001c0001t0091 a0001c0001t0100 a0001c0001t0102 a0001c0001t0104	a0001c0001t0013g0243 a0001c0001t0013g0252 a0001c0001t0054g0085 others(4): Show a0001c0001t0013g0243 a0001c0001t0013g0252 a0001c0001t0054g0085 a0001c0001t0091g0093 a0001c0001t0100g0255 a0001c0001t0102g0246 a0001c0001t0104g0258	7	272	0.0257	-166	c.-38 others(11): Show c.-3870_-3705del	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding		3405		chrX	TogoVar
RPTOR_chr17_80539838_80971368	80665340	TTCCTTTC others(159): Show TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCATG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02630.hp1 others(10): Show HG01884.hp1 HG02109.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG03098.hp1 HG03139.hp2 HG03209.hp1 HG03540.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0007 others(8): Show a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0012 a0001c0029 a0001c0067 a0001c0072 a0001c0075 a0001c0087	a0001c0005t0026 a0001c0005t0067 a0001c0006t0063 others(9): Show a0001c0005t0026 a0001c0005t0067 a0001c0006t0063 a0001c0007t0069 a0001c0009t0078 a0001c0011t0062 a0001c0012t0018 a0001c0029t0025 a0001c0067t0068 a0001c0072t0006 a0001c0075t0012 a0001c0087t0002	a0001c0005t0026g0109 a0001c0005t0026g0151 a0001c0005t0067g0111 others(10): Show a0001c0005t0026g0109 a0001c0005t0026g0151 a0001c0005t0067g0111 a0001c0006t0063g0160 a0001c0007t0069g0128 a0001c0009t0078g0021 a0001c0011t0062g0114 a0001c0012t0018g0194 a0001c0029t0025g0153 a0001c0067t0068g0110 a0001c0072t0006g0108 a0001c0075t0012g0127 a0001c0087t0002g0051	13	196	0.0663	-166	c.348 others(19): Show c.348+21549_348+21714del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80840945	ACCGCAGC others(159): Show ACCGCAGCTCACACTCACCGCACGGCAGCTCACATTCACCACACGGCAAC TCACTCTCACCACACGGCAGCTCACTCTCTCTGCACCGCAGCTCACACTC ACCGCACGGCAGCTCACATTCACCACACGGCAACTCACTCTCACCACACG GCAGCTCACTCTCTCTG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02886.hp1 HG02922.hp2 others(4): Show HG01884.hp2 HG02886.hp1 HG02922.hp2 HG03041.hp2 HG03098.hp1 HG03516.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0001c0007 a0001c0053 others(2): Show a0001c0005 a0001c0007 a0001c0053 a0001c0070 a0002c0063	a0001c0005t0026 a0001c0005t0083 a0001c0007t0030 others(3): Show a0001c0005t0026 a0001c0005t0083 a0001c0007t0030 a0001c0053t0007 a0001c0070t0020 a0002c0063t0020	a0001c0005t0026g0109 a0001c0005t0026g0151 a0001c0005t0083g0017 others(4): Show a0001c0005t0026g0109 a0001c0005t0026g0151 a0001c0005t0083g0017 a0001c0007t0030g0020 a0001c0053t0007g0122 a0001c0070t0020g0003 a0002c0063t0020g0001	7	196	0.0357	-166	c.121 others(19): Show c.1212+2950_1212+3115del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	10/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SAMD11_chr1_918923_949574	934122	GGGAGGCG others(159): Show GGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGT GGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTT ACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGC TGCGTTACAGGTGGGCA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0031 a0003c0031	a0003c0031t0002 a0003c0031t0002	a0003c0031t0002g0299 a0003c0031t0002g0299	1	434	0.0023	-166	c.843 others(17): Show c.843-1647_843-1482del	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD7_chr3_169906572_169944175	169910201	AGGCCGAG others(159): Show AGGCCGAGGTGGGTGGATTGCTAGAGTCCAGGAGTTCAAGACCAGCCTAG GCAACATGGCGAAAGCCTGTCTCTACAAAAAAATACAGAAAAAAAATTAG CCAGGCATGCGGTCGTGCACCAGTGGTCCCAGCTACTTGGAGGCTACGGT GGGAGGATTGCTTGAGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0227 a0004c0006t0001g0227	1	416	0.0024	-166	c.-17 others(11): Show c.-1736_-1571del	SAMD7	ENSG00000187033.9	transcript	ENST00000335556.7	protein_coding		1370		chr3	TogoVar
SCGB1C1_chr11_188078_199575	196052	GGGGGGGA others(159): Show GGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTT GGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGGGACC TTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGAGG ACCTGGTGAGGGGACAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	1	354	0.0028	-166	c.16 others(11): Show c.1603_*1768del	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1478		chr11	TogoVar
SCGB1C1_chr11_188078_199575	196092	GGGGGACC others(159): Show GGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGACATA GGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTT GGTGAGGAGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGAC CTGGTGAGGGGACATGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0004 a0001c0005t0001g0004	1	354	0.0028	-166	c.16 others(11): Show c.1643_*1808del	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1518		chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1288226	TCTCTGCT others(159): Show TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCC GTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCC TGCTCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0079 a0002c0002t0001g0079	1	290	0.0035	-166	c.166 others(17): Show c.1662+192_1662+357del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288276	CCCGAGTC others(159): Show CCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCC GTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCC TGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTG TCCCTGCTCCGTCCCGT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0008 a0014c0021t0008	a0014c0021t0008g0271 a0014c0021t0008g0271	1	290	0.0035	-166	c.166 others(17): Show c.1662+240_1662+405del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17			chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288299	GTCTGCTC others(159): Show GTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTC	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0116 a0002c0003t0004g0116	1	290	0.0035	-166	c.166 others(17): Show c.1662+281_1662+446del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288589	CCGTGTCT others(159): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0107 a0002c0003t0002g0107	1	290	0.0035	-166	c.166 others(17): Show c.1662+554_1662+719del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3962868	CCACAGCT others(159): Show CCACAGCTACCTGACCTGGACGTATCCAGTGAGTACACTCAGCCCCATGG CTACCTGGATGTAACCAGTGGGTACACCCAGGCTCACAGCTACCTGACCT GGACGTATCCAGTGAGTACACTCAGCTCCATGGCTACCTGGATGTAACCA CTGGGTACACCCAGGCT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02922.hp1 HG03225.hp2 HG02559.hp2 HG02922.hp1 HG03225.hp2	a0001 a0001	a0001c0025 a0001c0026 a0001c0027 a0001c0025 a0001c0026 a0001c0027	a0001c0025t0024 a0001c0026t0002 a0001c0027t0020 a0001c0025t0024 a0001c0026t0002 a0001c0027t0020	a0001c0025t0024g0088 a0001c0026t0002g0086 a0001c0027t0020g0087 a0001c0025t0024g0088 a0001c0026t0002g0086 a0001c0027t0020g0087	3	116	0.0259	-166	c.142 others(17): Show c.1429+114_1429+279del	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	9/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SGPL1_chr10_70810948_70886184	70881902	GCTAGATT others(159): Show GCTAGATTCCTGTTCCAAGTGACCCCGGCATTTACAAGTCAGCTTAGTAC TTGAGTTAGGAGACACAGGTGAGAACTATTAGGAAGAAGGCTTCCCAGTC TCTGCATAGTGACATATGTGAGGTAAAATTTGTGTGGCATTCTCGTGGGG GTAGAGATGAGGCTGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0309 a0001c0001t0014g0309	1	402	0.0025	-166	c.45 others(11): Show c.4568_*4733del	SGPL1	ENSG00000166224.18	transcript	ENST00000373202.8	protein_coding		719		chr10	TogoVar
SLC12A7_chr5_1045384_1117063	1070143	CCCCCAGC others(159): Show CCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGT GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCC AGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACG GCATCACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0009 a0001c0010t0005g0009	1	118	0.0085	-166	c.224 others(19): Show c.2241+3324_2241+3489del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071723	CGGGCATC others(159): Show CGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCA CACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCA GCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAG TGAGCCCCCAGCACACG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0004 a0002c0023t0004	a0002c0023t0004g0010 a0002c0023t0004g0010	1	118	0.0085	-166	c.224 others(19): Show c.2241+1744_2241+1909del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC2A9_chr4_9821224_10026497	9835975	TACTCGAG others(159): Show TACTCGAGAGGCTGAGGCAGGAGAATCATTTGAACCTGGAAGGTGGAGGT TGCAGTGAGCCGAGATCAAGCATATTGCACACCAGCCTGGGCAACAAGAG TGAAACTCCCTCTCAAAAAAAAAAAAAAAAAAAAAAAGATAAAAGAATGA TACAACAGACTTTGGGA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03098.hp1 HG02559.hp1 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0002c0006t0001 a0001c0001t0001 a0002c0006t0001	a0001c0001t0001g0233 a0002c0006t0001g0336 a0001c0001t0001g0233 a0002c0006t0001g0336	2	336	0.0060	-166	c.129 others(18): Show c.1292-1133_1292-968del	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	10/11			chr4	TogoVar
SLC9A3_chr5_465456_529449	486992	GCACTGAC others(159): Show GCACTGACACCGTGATCCAGACCGCACTGACACCCACCACACTGACACCC ACCGCACTGACACCCACCACACTGACACCCACCGCACTGACACCCACCAC ACTGACACCGTGATCCAGACCGCACTGACACCCACCACACTGACACCCAC CGCACTGACACCCACCA	G G	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01167.hp1 HG01169.hp2 others(37): Show HG01071.hp1 HG01167.hp1 HG01169.hp2 HG01261.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG03831.hp2 HG04199.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18951.hp1 NA18954.hp1 NA18963.hp1 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA19000.hp2 NA19007.hp1 NA19010.hp2 NA19012.hp1 NA19057.hp1 NA19081.hp1 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0001c0019 a0001c0026 others(6): Show a0001c0001 a0001c0019 a0001c0026 a0002c0002 a0002c0004 a0002c0010 a0002c0011 a0005c0013 a0007c0016	a0001c0001t0001 a0001c0001t0031 a0001c0019t0009 others(12): Show a0001c0001t0001 a0001c0001t0031 a0001c0019t0009 a0001c0026t0012 a0002c0002t0002 a0002c0002t0003 a0002c0002t0019 a0002c0002t0020 a0002c0004t0006 a0002c0004t0025 a0002c0010t0003 a0002c0011t0002 a0002c0011t0003 a0005c0013t0003 a0007c0016t0002	a0001c0001t0001g0021 a0001c0001t0001g0046 a0001c0001t0031g0198 others(37): Show a0001c0001t0001g0021 a0001c0001t0001g0046 a0001c0001t0031g0198 a0001c0019t0009g0008 a0001c0026t0012g0212 a0002c0002t0002g0015 a0002c0002t0002g0034 a0002c0002t0002g0049 a0002c0002t0002g0058 a0002c0002t0002g0063 a0002c0002t0002g0082 a0002c0002t0002g0096 a0002c0002t0002g0145 a0002c0002t0002g0149 a0002c0002t0003g0164 a0002c0002t0003g0165 a0002c0002t0003g0175 a0002c0002t0003g0186 a0002c0002t0003g0191 a0002c0002t0003g0192 a0002c0002t0003g0193 a0002c0002t0003g0194 a0002c0002t0003g0197 a0002c0002t0003g0199 a0002c0002t0003g0202 a0002c0002t0003g0203 a0002c0002t0003g0206 a0002c0002t0003g0211 a0002c0002t0003g0217 a0002c0002t0019g0018 a0002c0002t0020g0115 a0002c0004t0006g0173 a0002c0004t0025g0143 a0002c0010t0003g0201 a0002c0011t0002g0011 a0002c0011t0002g0101 a0002c0011t0003g0195 a0005c0013t0003g0167 a0005c0013t0003g0207 a0007c0016t0002g0017	40	218	0.1835	-166	c.675 others(17): Show c.675+1158_675+1323del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	3/16			chr5	TogoVar
SNED1_chr2_240993618_241100568	241052635	CGGGGGGC others(159): Show CGGGGGGCCAAGCAGGGTACATGGGACACCGGTGCCAGGCAGGTGAGAGG GTCGGCGGGGGGGGGGGGGGTCAAGCAGGGTACATGGGATACCAGTGCCA GGCAGGTGAGAGGGCCGGGGGGCCAAGCAGGGTACATGGGATGCTGGTGT CAGGCAGGTAAGGCCTG	C C	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02155.hp2 NA18942.hp1 others(2): Show HG02027.hp2 HG02155.hp2 NA18942.hp1 NA18988.hp1 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0034 a0001c0006 a0002c0034	a0001c0006t0001 a0001c0006t0002 a0001c0006t0058 others(1): Show a0001c0006t0001 a0001c0006t0002 a0001c0006t0058 a0002c0034t0004	a0001c0006t0001g0257 a0001c0006t0002g0076 a0001c0006t0002g0084 others(2): Show a0001c0006t0001g0257 a0001c0006t0002g0076 a0001c0006t0002g0084 a0001c0006t0058g0085 a0002c0034t0004g0083	5	344	0.0145	-166	c.208 others(17): Show c.2083+173_2083+338del	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	15/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNED1_chr2_240993618_241100568	241052669	CCAGGCAG others(159): Show CCAGGCAGGTGAGAGGGTCGGCGGGGGGGGGGGGGGTCAAGCAGGGTACA TGGGATACCAGTGCCAGGCAGGTGAGAGGGCCGGGGGGCCAAGCAGGGTA CATGGGATGCTGGTGTCAGGCAGGTAAGGCCTGGGGGGCCCAAGCAGGGT ACATGGGATGCCGGTGT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp1 HG02109.hp2 others(9): Show HG00438.hp2 HG00673.hp1 HG02109.hp2 HG02723.hp2 HG02965.hp1 HG03942.hp2 NA18940.hp1 NA18950.hp1 NA18984.hp2 NA19082.hp1 NA19090.hp2 NA20300.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0006 a0002c0008 others(3): Show a0001c0001 a0001c0006 a0002c0008 a0002c0034 a0008c0032 a0008c0081	a0001c0001t0009 a0001c0006t0001 a0001c0006t0002 others(4): Show a0001c0001t0009 a0001c0006t0001 a0001c0006t0002 a0002c0008t0019 a0002c0034t0006 a0008c0032t0021 a0008c0081t0021	a0001c0001t0009g0274 a0001c0006t0001g0054 a0001c0006t0001g0108 others(9): Show a0001c0001t0009g0274 a0001c0006t0001g0054 a0001c0006t0001g0108 a0001c0006t0001g0258 a0001c0006t0002g0088 a0001c0006t0002g0089 a0001c0006t0002g0276 a0002c0008t0019g0227 a0002c0034t0006g0293 a0008c0032t0021g0328 a0008c0032t0021g0329 a0008c0081t0021g0031	12	344	0.0349	-166	c.208 others(17): Show c.2083+215_2084-305del	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	15/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1027598	GCCCACAG others(159): Show GCCCACAGACACTACCCAGCAAGTAACTCATGCATCTCTGTTGAGTAAAG AGATAAGCAGGTGCATCACTGAAGGTGCGTCTGACCTACAGACACTACCC AGCAAGTAACTCATGCATCTCTGTTGAGTAAGTAGGTCAGTAGGTGCATC ATTGAAGATGCGTCTGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00642.hp1 others(29): Show HG00099.hp1 HG00140.hp1 HG00642.hp1 HG01081.hp2 HG01106.hp1 HG01169.hp1 HG01192.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01975.hp2 HG02015.hp1 HG02071.hp2 HG02132.hp1 HG02148.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02683.hp1 HG03017.hp2 HG03225.hp1 HG03471.hp1 HG03710.hp2 HG04115.hp1 HG04184.hp1 NA18943.hp1 NA18990.hp2 NA20129.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0019	a0001c0001 a0001c0002 a0002c0003 others(10): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0003c0007 a0003c0008 a0004c0014 a0005c0006 a0005c0015 a0006c0009 a0006c0010 a0008c0011 a0019c0025	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(13): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0005t0001 a0003c0007t0001 a0003c0008t0001 a0004c0014t0001 a0004c0014t0002 a0005c0006t0001 a0005c0006t0002 a0005c0015t0001 a0006c0009t0001 a0006c0010t0001 a0008c0011t0001 a0019c0025t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 others(29): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0002t0001g0007 a0001c0002t0001g0010 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0002g0002 a0002c0003t0001g0021 a0002c0003t0001g0026 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0005t0001g0014 a0002c0005t0001g0020 a0002c0005t0001g0032 a0003c0007t0001g0018 a0003c0008t0001g0013 a0004c0014t0001g0036 a0004c0014t0002g0001 a0005c0006t0001g0019 a0005c0006t0002g0003 a0005c0015t0001g0037 a0006c0009t0001g0011 a0006c0010t0001g0012 a0008c0011t0001g0004 a0019c0025t0001g0034	32	190	0.1684	-166	c.73- others(17): Show c.73-55834_73-55669del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1028150	CTGAAGGT others(159): Show CTGAAGGTGCGTCTGACCCACAATCACTATCCAGCAAGTAACTCATGCAT CTCTGTTGAGTAAAGAGGTAAGCAGGTGCATCACTGAAGGTGCGTCTGAC CCACAGACACTACCCAGTAAGTAACTCATGCATCTCTGTTGAGTAAAGAG ATAAGCAGGTGCATCAT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03453.hp2 HG02572.hp1 HG03453.hp2	a0001 a0009 a0001 a0009	a0001c0002 a0009c0013 a0001c0002 a0009c0013	a0001c0002t0001 a0009c0013t0001 a0001c0002t0001 a0009c0013t0001	a0001c0002t0001g0041 a0009c0013t0001g0042 a0001c0002t0001g0041 a0009c0013t0001g0042	2	190	0.0105	-166	c.73- others(17): Show c.73-55358_73-55193del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
ST3GAL3_chr1_43702536_43936159	43905825	TACCACTC others(159): Show TACCACTCTTCTTTCTCCTCCTCCTGTTCCTCTTCCTCCCCATCCTCCTG TTTCCTTTCCCGCCACTTTTCTTCACCTCCTCCTGTTCCTCTTCCCACCA CTCTTCCCCCTCCTCCTCCTGCTCCTCTCCCACCACTCTCCCCTCTCCTC CTCCTGCTCCCCTTCCC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA21309.hp2 HG02970.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0152 a0001c0001t0001g0069 a0001c0001t0001g0152	2	274	0.0073	-166	c.744 others(17): Show c.744+6099_744+6264del	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11			chr1	TogoVar
SUPT20HL2_chrX_24303210_24319069	24313537	GCCGGGCT others(159): Show GCCGGGCTTCACGTCTCTGCGGCCTGGAACAGAAGTGAGCGGGAGGGCCG GGGTCAGCTTCTAGGCGCGTCTGGGCACCTGCCCAGAAACCTGCCCCCAG GGAAGCGCTACCCAATCTGTTTGAGGGTTTCTGAAAACATCGGTACCTGA GGGGTCGTCGTCGTGGC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0026 a0008c0020t0026	a0008c0020t0026g0000 a0008c0020t0026g0000	1	293	0.0034	-166	c.-38 others(9): Show c.-388_-223del	SUPT20HL2	ENSG00000223611.7	transcript	ENST00000486479.3	protein_coding	1/1	223		chrX	TogoVar
SUPT20HL2_chrX_24303210_24319069	24313587	GGGTCAGC others(159): Show GGGTCAGCTTCTAGGCGCGTCTGGGCACCTGCCCAGAAACCTGCCCCCAG GGAAGCGCTACCCAATCTGTTTGAGGGTTTCTGAAAACATCGGTACCTGA GGGGTCGTCGTCGTGGCCCGGGCTTCACGTCTCTGCGGCCTGGAACAGAA GTGAGCGGGAGGGCCGT	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01081.hp1 NA18980.hp2 HG01081.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0067 a0001c0002t0068 a0001c0001t0067 a0001c0002t0068	a0001c0001t0067g0000 a0001c0002t0068g0000 a0001c0001t0067g0000 a0001c0002t0068g0000	2	293	0.0068	-166	c.-43 others(9): Show c.-438_-273del	SUPT20HL2	ENSG00000223611.7	transcript	ENST00000486479.3	protein_coding	1/1	273		chrX	TogoVar
TAF13_chr1_109059140_109081003	109071957	AATATATA others(159): Show AATATATATATATATATATACACACATATATATATATATATATATATATA TATATATACACACACATATATATATATATATATATATACACACACATATA TATATATATATATATATATACACACACATATATATATATATATATATATA TATATATATACACACAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	414	0.0024	-166	c.106 others(17): Show c.106+2864_106+3029del	TAF13	ENSG00000197780.11	transcript	ENST00000338366.6	protein_coding	2/3			chr1	TogoVar
TCF3_chr19_1604292_1657615	1628870	ACGGGGTG others(159): Show ACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCA CAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGG AAGGGGACAGCAGAGCT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0020 a0006c0012t0020	a0006c0012t0020g0262 a0006c0012t0020g0262	1	352	0.0028	-166	c.299 others(17): Show c.299-1610_299-1445del	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TIAM2_chr6_154990315_155262723	155028015	CTGTGTTA others(159): Show CTGTGTTATATACTATATATAATATATGTACTGTGTTACATATATACTAT ATATAATATATGTACTGTGTTACATATATACTATATATAATATATGTACT GTGTTACATATATACTATATATAATATATGTACTGTTACATATATACTAC ATATAATATATGTACTG	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA19030.hp2 HG02647.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0005 a0001c0004t0002 a0001c0002t0005 a0001c0004t0002	a0001c0002t0005g0230 a0001c0004t0002g0115 a0001c0002t0005g0230 a0001c0004t0002g0115	2	230	0.0087	-166	c.-20 others(21): Show c.-209+32527_-209+32692del	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TMEM132D_chr12_129066726_129909025	129387752	TAGCAACA others(159): Show TAGCAACACCAATACTAACACCAACACCAATCCAGCACTGACAATAATAT GAACACTAACACGAATCCTAATATAAACACTAACACCGACATCAATACTA ACACCAACACCAATCCAGCACTGATAATAATATGAACACTAACACGAGTC CTAATATAGACACTAAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01891.hp1 HG02109.hp1 others(3): Show HG00099.hp1 HG01891.hp1 HG02109.hp1 HG02145.hp1 HG02976.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0002t0004 a0001c0004t0008	a0001c0001t0001g0012 a0001c0001t0002g0038 a0001c0001t0003g0020 others(3): Show a0001c0001t0001g0012 a0001c0001t0002g0038 a0001c0001t0003g0020 a0001c0001t0010g0034 a0001c0002t0004g0023 a0001c0004t0008g0089	6	94	0.0638	-166	c.111 others(21): Show c.1116-50101_1116-49936del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	3/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129388725	CATCCTAA others(159): Show CATCCTAATATAAACACTAACAGCAACACCAATACTAACACCAACACCAA TCCAGCACTGATGATAATATTAACACCAACACAAATCCTAATATAAACAC TAATAGCAACACCAATACTAACACCAACACCAATCCAGCACTGATGATAA TATTAACACTAACATGA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	94	0.0106	-166	c.111 others(21): Show c.1116-51074_1116-50909del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	3/8			chr12	TogoVar
TOP2B_chr3_25592984_25669907	25657897	TAAAAATA others(159): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00423.hp2 others(84): Show HG00140.hp1 HG00140.hp2 HG00423.hp2 HG00639.hp2 HG01109.hp2 HG01167.hp1 HG01192.hp1 HG01243.hp2 HG01346.hp1 HG01358.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02056.hp2 HG02109.hp2 HG02145.hp1 HG02148.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02572.hp2 HG02622.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03540.hp2 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18944.hp2 NA18945.hp2 NA18951.hp2 NA18956.hp1 NA18964.hp1 NA18970.hp2 NA18980.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA19001.hp1 NA19002.hp1 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19054.hp2 NA19056.hp2 NA19058.hp1 NA19072.hp1 NA19074.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20905.hp2 NA21309.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0010	a0001c0002 a0001c0007 a0001c0009 others(3): Show a0001c0002 a0001c0007 a0001c0009 a0003c0005 a0004c0006 a0010c0015	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 others(6): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 a0001c0007t0002 a0001c0009t0006 a0003c0005t0002 a0004c0006t0002 a0010c0015t0002	a0001c0002t0001g0288 a0001c0002t0002g0001 a0001c0002t0002g0002 others(77): Show a0001c0002t0001g0288 a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0083 a0001c0002t0002g0085 a0001c0002t0002g0095 a0001c0002t0006g0294 a0001c0002t0009g0296 a0001c0007t0002g0029 a0001c0007t0002g0045 a0001c0007t0002g0050 a0001c0007t0002g0051 a0001c0007t0002g0084 a0001c0009t0006g0293 a0001c0009t0006g0295 a0003c0005t0002g0043 a0003c0005t0002g0044 a0003c0005t0002g0048 a0003c0005t0002g0049 a0003c0005t0002g0082 a0003c0005t0002g0091 a0003c0005t0002g0092 a0004c0006t0002g0086 a0004c0006t0002g0088 a0004c0006t0002g0089 a0004c0006t0002g0090 a0004c0006t0002g0093 a0004c0006t0002g0094 a0010c0015t0002g0087	87	310	0.2807	-166	c.69+ others(15): Show c.69+6166_69+6331del	TOP2B	ENSG00000077097.17	transcript	ENST00000264331.9	protein_coding	1/35			chr3	TogoVar
WNT3_chr17_46757506_46823692	46811121	AACAGATA others(159): Show AACAGATAAATCGACACTACTGGCTTCAGCAACTCTACCCCTGCCCGCCC TACACCTTTCCAGCCTTAAGAACTAGCAGTGAGGGATTTGGGATTCACGG CTGCGATGCAGGGAACTAAGCGGCCTTAGGTGTCATCGGGCGGGTTGTTG CATGGGTCAGTGTTAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00639.hp1 others(17): Show HG00140.hp2 HG00280.hp2 HG00639.hp1 HG00733.hp2 HG01516.hp1 HG01517.hp2 HG01952.hp2 HG02280.hp2 HG02451.hp2 HG02723.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG03041.hp1 HG03098.hp1 HG03471.hp1 NA18522.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0019	a0001c0001t0001g0002 a0001c0001t0001g0227 a0001c0001t0001g0228 others(16): Show a0001c0001t0001g0002 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0003g0242 a0001c0001t0003g0244 a0001c0001t0003g0259 a0001c0001t0004g0239 a0001c0001t0004g0243 a0001c0001t0004g0251 a0001c0001t0005g0241 a0001c0001t0019g0258	20	281	0.0712	-166	c.80+ others(15): Show c.80+7231_80+7396del	WNT3	ENSG00000108379.11	transcript	ENST00000225512.6	protein_coding	1/4			chr17	TogoVar
ZBED6_chr1_203790623_203859124	203833334	TAGCCTGG others(159): Show TAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAA ACACCAGGTGTGGTAGTGTGCGCAGTAGTCCCAGCTACTTGGGAGGCTGA GACAGGAGAATTGCTTGAACCCAGGAGGTGGAAGTTGCAATGAGCCAAGA TGGCACCACTGCACTCC	T T	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0075 a0001c0001t0017g0075	1	384	0.0026	-166	c.35 others(19): Show c.3511-450_*3511-285del	ZBED6	ENSG00000257315.4	transcript	ENST00000550078.3	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZBTB2_chr6_151359115_151396559	151377367	CAATTTTT others(159): Show CAATTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCT GGAGTGCAATGGCACCATCTTAACTCACTGCAACCTCTGCCTCCCGGGTT CAAGCTATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCC CGCGACCATGTCTGGCT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0282 a0001c0001t0004g0282	1	388	0.0026	-166	c.-12 others(17): Show c.-12-3884_-12-3719del	ZBTB2	ENSG00000181472.5	transcript	ENST00000325144.5	protein_coding	1/2			chr6	TogoVar
ZC3H11A_chr1_203790623_203859124	203833334	TAGCCTGG others(159): Show TAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAA ACACCAGGTGTGGTAGTGTGCGCAGTAGTCCCAGCTACTTGGGAGGCTGA GACAGGAGAATTGCTTGAACCCAGGAGGTGGAAGTTGCAATGAGCCAAGA TGGCACCACTGCACTCC	T T	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0128 a0001c0001t0013g0128	1	384	0.0026	-166	c.812 others(15): Show c.812-450_812-285del	ZC3H11A	ENSG00000058673.17	transcript	ENST00000367210.3	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF365_chr10_62369369_62407450	62369920	TATATATA others(159): Show TATATATATATCTCATATATATGTCCCATATATATATATCTCATATATAT GTCCCATATATATATATCTCATATATATGTCCCATATATATATATCTCAT ATATATGTCCCATATATATATATCTCATATATATGTCCCATATATATATA TCTCATATATATGTCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	350	0.0029	-166	c.-45 others(11): Show c.-4551_-4386del	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		4448		chr10	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)