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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⚠️ 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
RRP12_chr10_97351701_97406340	97398060	TTTTTTGA others(286): Show TTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGC AGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACC GCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0205 a0001c0015t0001g0205	1	400	0.0025	-293	c.369 others(17): Show c.369+1952_370-1760del	RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	2/33			chr10	TogoVar
SARDH_chr9_133658560_133743352	133668782	TCCCTCAC others(286): Show TCCCTCACCCTCCCTCTCCCTCACCCTCCATCTCCCCTCACCCTCCCTCT CCCCTCACCCTCCCTCTCCCTCACCCTCCATCTCCCCTCACCCTCCCTCT CCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTCC CTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCT CACCCTCCATCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCTC ACCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCCTCCATCTC	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18945.hp1 NA19009.hp2 HG03710.hp1 NA18945.hp1 NA19009.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0011 a0002c0004t0002g0012 a0002c0004t0002g0015 a0002c0004t0002g0011 a0002c0004t0002g0012 a0002c0004t0002g0015	3	262	0.0115	-293	c.249 others(19): Show c.2495+1509_2495+1801del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SLFN14_chr17_35538985_35565819	35561782	AACCCAAC others(286): Show AACCCAACAGATGCTGGGGGCAGTGGCTCATGCCTGTAATCCCAGCATTT TGGGAGGCTGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGC CTGGCCAACATGGTGAAAACCCCGTCTCTACTAGAAATACAAAAATTAGC TGGGCATGGTGGTGGACACCTGTCATCCCAGCTCCTGGGGAGGCTGGGAC AGGAGAATTGCTTGAACCTGGGAGGCAAAGGTTGCAGTGAGCCGAGATCA TGCCACTGCATTCCAGCCTGGGTGACAAAGTGAGACTCCATCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0105 a0002c0002t0002g0105	1	428	0.0023	-293	c.-14 others(11): Show c.-1432_-1140del	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding		964		chr17	TogoVar
SUPT6H_chr17_28657205_28707679	28680056	ACACTTTG others(286): Show ACACTTTGGAAGACTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAG ACCAGCTTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCTCGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGC TGAGACAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAATGAGCCG AGATCGTGCCATTGCACTCCAGCCTGGGTGATGAGCAAAACTCCATCTCA AAAGAAGAGAGGCTGGGCGTGGTGGCTCACACCTGTAATCCCAG	A A	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	236	0.0042	-293	c.134 others(18): Show c.1349+1102_1350-899del	SUPT6H	ENSG00000109111.15	transcript	ENST00000314616.11	protein_coding	11/36		INFO_REALIGN_3_PRIME	chr17	TogoVar
TMEM239_chr20_2811364_2823062	2822769	CCCGTCTC others(286): Show CCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTC TCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGT CTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCT CTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCC TCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 NA18956.hp1 NA18956.hp2 others(1): Show HG00738.hp1 NA18956.hp1 NA18956.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0001g0001 a0001c0001t0002g0002	4	400	0.0100	-293	c.57 others(11): Show c.5757_*6049del	TMEM239	ENSG00000198326.10	transcript	ENST00000380585.2	protein_coding		4708		chr20	TogoVar
TRAPPC9_chr8_139722725_140462744	140157022	CTTTTCCA others(286): Show CTTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTCCAT TCAAAAGCCTCCCTTTTCCATTCAGAAGCCTCCCTTTCCATTCAGAAGCC TCCCTTTTCCATTCAGAAGCCTCCCTTTTCCATTCAGAAGCCTCCCTTTT CCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTTCCATTCAA AAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCC CTTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0083 a0001c0001t0008g0083	1	98	0.0102	-293	c.255 others(21): Show c.2556+64144_2556+64436del	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22			chr8	TogoVar
TXK_chr4_48061393_48139250	48104248	ATTTTATA others(286): Show ATTTTATATATATAATATATAATATAATATATAATATATATAATATATAA TATAATATATAATATATATAATATATAATATAATATATAATATATATAAT ATATAATATAATATATAATATATATAATATATAATATTATATATAATATA TATAATATATAATATTATATATAATATATATAATATATAATATTATATAT AATATATATAATATATAATATTATATATTATATATATAATATATAATATT ATATATTATATATATAATATATAATATTATATATTATATATATT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	362	0.0028	-293	c.501 others(15): Show c.501+360_501+652del	TXK	ENSG00000074966.11	transcript	ENST00000264316.9	protein_coding	6/14			chr4	TogoVar
ABCB5_chr7_20610667_20762008	20709963	CACTCGGG others(285): Show CACTCGGGAGGCTGAAGGAAGAGAATCGCTTGAACCCGGGAGGTGGAGGC CAAGACCATGCCACTGCACTCCATCCTGGGCGACAGAGCAAGACTCTAAA AAAAAAAAAGAAAAAAAATAGGTAGCCAGGGGTGGTGGCTCACGCCTGTA ATCCCAGCACCCAGCACTTTGGGAGACCGAGGCGGGTGGATCACCTGAGG TCGGGAGTTCAAGACCAGCCTGGCCAACATGGTGAGACCGTCTCTCTACT AAAAATTAGGTGGGCGTGGTGGGGGGCATCTATAATCCCAGCT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0004 a0005c0015t0004	a0005c0015t0004g0053 a0005c0015t0004g0053	1	360	0.0028	-292	c.242 others(19): Show c.2421+5171_2421+5462del	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
AFDN_chr6_167821911_167977023	167976249	AAGGAGGA others(285): Show AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGA GGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGACAGTGG GGGTCATTCCCCCTGCAGTGTGGGGGGAGGAGAAGACAGTGGGGGTCATT CCCCCTGCAGTGTGGGGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGC AGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTT GGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGTTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG02132.hp1 HG00423.hp1 HG02132.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0060 a0001c0003t0001g0190 a0001c0003t0001g0060 a0001c0003t0001g0190	2	326	0.0061	-292	c.63 others(11): Show c.6315_*6606del	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding		4227		chr6	TogoVar
AHRR_chr5_316714_443285	391429	AGGGCGAG others(285): Show AGGGCGAGGCGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCA GGGCGAGGCGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCAG GGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCAGG GCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACACAGGG CGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGC GAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03453.hp1 HG02280.hp1 HG03453.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0013 a0004c0003t0024 a0001c0001t0013 a0004c0003t0024	a0001c0001t0013g0150 a0004c0003t0024g0029 a0001c0001t0013g0150 a0004c0003t0024g0029	2	268	0.0075	-292	c.351 others(19): Show c.351+14714_351+15005del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112803952	TCCTCCTT others(285): Show TCCTCCTTTCTTCCCTTCCTTCCCTCATTCCCCTCATTCCCCTCCTTCCC TCCTTCACCTCCCTCCCTGCCATCCCCTCTCTGCCCTCCTTCCCTCCTTT TCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCT TCCCCTCCTTTTCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCT CCTTCCCTCCTTCACCTCCCTCCCTGCCATCCCCTCTCTGCCCTCCTTCC CCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGC	T T	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0026 a0001c0002t0012g0026	1	254	0.0039	-292	c.163 others(15): Show c.163-997_163-706del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
B9D2_chr19_41349417_41369149	41361586	GAGACCAG others(285): Show GAGACCAGCCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAATACAA AAATTAGCTGGGTATGGTAGCGGGTGCCTGTAGTCCCAGCCACTCGGGAG GCTGACATAGGAGAATCGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGC CGAGATCGTGCCACTGCACTCTAGCTTGGCTACAGAGTGAGACTCTGTCT CAAAAAAAAAAGGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACT TTGGAAGGCCTACGCAGGCGGATCACTTAAGGCCAGGAGTTCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp2 others(153): Show HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18993.hp2 NA18999.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19056.hp2 NA19058.hp2 NA19059.hp2 NA19063.hp2 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19083.hp1 NA19083.hp2 NA19086.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(38): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0002g0011 a0001c0001t0002g0050 a0001c0001t0002g0056 a0001c0001t0002g0072 a0001c0001t0007g0033 a0002c0002t0001g0020	156	360	0.4333	-292	c.88+ others(15): Show c.88+1554_88+1845del	B9D2	ENSG00000123810.9	transcript	ENST00000243578.8	protein_coding	2/3			chr19	TogoVar
BRSK2_chr11_1384934_1467689	1441372	GCCCCCCA others(285): Show GCCCCCCATTAGCTGCCCCTCAAGTGCACTGTCCCCCCATAGTGGCCCCT CAGGTGCACCGTCCCCCCCATTAGCTACTCCTCAAGTGCACCATCCCCTC CCCCCCATTAGCTACCCCTCAAGTGCACCGTCCACCCCATTAGCTACCCC TCAAGTGCACCGTCCACCCCATTAGCTACCCCTCAAGTGCACCGTCCCCC CATTAGCTACCCCTCAAGTGCACCATCCCCCTCATTAGCTACCCCTCAGG TGCATCATCCCCTCCTCATTAGCTGCCCCTCAAGTGCACCATC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01123.hp2 HG01891.hp1 others(19): Show HG00438.hp2 HG01123.hp2 HG01891.hp1 HG02027.hp2 HG02280.hp1 HG02698.hp1 HG02922.hp1 HG03492.hp2 HG04204.hp1 HG04228.hp1 NA18939.hp1 NA18963.hp1 NA18966.hp1 NA18966.hp2 NA18973.hp1 NA18975.hp1 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19011.hp1 NA19074.hp1 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0046 a0001c0003t0014 a0002c0002t0002 a0002c0002t0008 a0002c0002t0015 a0002c0002t0017 a0002c0002t0019 a0002c0002t0041 a0002c0002t0049 a0002c0002t0072	a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 others(19): Show a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0073 a0001c0001t0001g0189 a0001c0001t0004g0080 a0001c0001t0009g0068 a0001c0001t0009g0100 a0001c0001t0009g0101 a0001c0001t0009g0120 a0001c0001t0009g0122 a0001c0001t0009g0128 a0001c0001t0046g0083 a0001c0003t0014g0038 a0002c0002t0002g0145 a0002c0002t0008g0181 a0002c0002t0015g0027 a0002c0002t0017g0301 a0002c0002t0019g0021 a0002c0002t0041g0144 a0002c0002t0049g0117 a0002c0002t0072g0273	22	360	0.0611	-292	c.413 others(15): Show c.413+734_414-537del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
CCDC124_chr19_17928015_17948985	17934048	GCACTGTG others(285): Show GCACTGTGGCTCACACCTGTAATCCAGGCACTTTGAGAGGCCGAGGCAAG CGGATCACTTGAGGTCAAGAGTTTGAGACCAGCCTGGCCAACATAGTGAA ACCCCGTCTCTACTAAAAATACAAAAATCAGATAGGCATGGTGGCACATG CCAACATGGTGAAACCCCATCTCTATAAAAATACAAAAATTAGCCGGGCG TGGTGGCAGGTGCCTGTAATCCTAGCTGCTTGGGAGGCTGAAACAGGAGA ATTGCTTGAACCGGGTGGGTGGAGGTTGCAGTGAGCCGAGATT	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02895.hp1 HG02895.hp2 others(5): Show HG01361.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03041.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0083 a0001c0002t0001g0084 others(1): Show a0001c0002t0001g0013 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085	8	420	0.0191	-292	c.-12 others(17): Show c.-12+1001_-12+1292del	CCDC124	ENSG00000007080.11	transcript	ENST00000445755.7	protein_coding	1/4			chr19	TogoVar
CDK12_chr17_39456486_39539544	39498916	TTTCTTTC others(285): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0105 a0001c0001t0011g0105	1	260	0.0039	-292	c.242 others(19): Show c.2420-2331_2420-2040del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CDK12_chr17_39456486_39539544	39498919	CTTTCTTT others(285): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0016 a0002c0003t0016	a0002c0003t0016g0117 a0002c0003t0016g0117	1	260	0.0039	-292	c.242 others(19): Show c.2420-2327_2420-2036del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP20DC_chr3_58737008_59055025	58822222	TCAGCATG others(285): Show TCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACAT GTACCGTAAAACTTAAAGTATAATAAAAAAAAATCATGAAAAAACAAACA AACAAACAAACAAACAAAAAAAACCAAACACCGCATATTCTCACTCATAG GTGGGAACTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACA CTCTGGGGACTGTTGTGGGGTGGTGGGAGGGGGAAGGGATAGCATCAGGA GATATACCTAATGCTAGATGACGTGTTAGTGGGTGTAGTGCAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02965.hp1 HG03130.hp2 others(1): Show HG02451.hp1 HG02965.hp1 HG03130.hp2 HG03486.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0160 a0003c0004t0001g0161 a0003c0004t0001g0162 others(1): Show a0003c0004t0001g0160 a0003c0004t0001g0161 a0003c0004t0001g0162 a0003c0004t0001g0163	4	204	0.0196	-292	c.217 others(19): Show c.2175+9172_2175+9463del	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	14/16			chr3	TogoVar
CMC2_chr16_80961448_81011885	80980230	ATCACCCT others(285): Show ATCACCCTAGGTGTATTTTTCATGTAAACTGGCTTTTTCATATAAAGGAC AAACATTTTTAGTAAATAATTTAAAAACACTAATAAGGCTGGGAATGGTG ACTCATGTCTGTAGTCCCAGCACTTTGGGAGGCCAAGGTGGGAGGACTCA CCCTAGGTGTATTTTTCATGTAAACTGGCTTTTTCATATAAAGGACAAAC ATTTTTAGTAAATAATTTAAAAACACTAATAAGGCTGGGAATGGTGACTC ATGTCTGTAGTCCCAGCACTTTGGGAGGCCAAGGTGGGAGGAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(404): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(170): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0033 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0001t0133 a0001c0001t0134 a0001c0001t0135 a0001c0001t0136 a0001c0001t0137 a0001c0001t0138 a0001c0001t0139 a0001c0001t0140 a0001c0001t0141 a0001c0001t0142 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149 a0001c0001t0150 a0001c0001t0151 a0001c0001t0152 a0001c0001t0153 a0001c0001t0154 a0001c0001t0155 a0001c0001t0156 a0001c0001t0157 a0001c0001t0158 a0001c0001t0159 a0001c0001t0168 a0001c0001t0170 a0001c0001t0171 a0001c0001t0172 a0001c0001t0173 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0011 a0002c0002t0012 a0002c0002t0013 a0002c0002t0015 a0002c0002t0021 a0002c0002t0022 a0002c0002t0023 a0002c0002t0030 a0002c0002t0031 a0002c0002t0032 a0002c0002t0034 a0002c0002t0035 a0002c0002t0036 a0002c0002t0037 a0002c0002t0038 a0002c0002t0039 a0002c0002t0054 a0002c0002t0058 a0002c0002t0059 a0002c0002t0060 a0002c0002t0061 a0002c0002t0062 a0002c0002t0063 a0002c0002t0064 a0002c0002t0065 a0002c0002t0066 a0002c0002t0067 a0002c0002t0068 a0002c0002t0069 a0002c0002t0070 a0002c0002t0071 a0002c0002t0072 a0002c0002t0073 a0002c0002t0074 a0002c0002t0075 a0002c0002t0076 a0002c0002t0077 a0002c0002t0078 a0002c0002t0079 a0002c0002t0080 a0002c0002t0081 a0002c0002t0082 a0002c0002t0083 a0002c0002t0084 a0002c0002t0085 a0002c0002t0086 a0002c0002t0087 a0002c0002t0088 a0002c0002t0089 a0002c0002t0090 a0002c0002t0091 a0002c0002t0092 a0002c0002t0093 a0002c0002t0094 a0002c0002t0095 a0002c0002t0096 a0002c0002t0097 a0002c0002t0098 a0002c0002t0099 a0002c0002t0100 a0002c0002t0101 a0002c0002t0102 a0002c0002t0103 a0002c0002t0104 a0002c0002t0105 a0002c0002t0106 a0002c0002t0107 a0002c0002t0108 a0002c0002t0109 a0002c0002t0110 a0002c0002t0111 a0002c0002t0112 a0002c0002t0113 a0002c0002t0114 a0002c0002t0115 a0002c0002t0116 a0002c0002t0117 a0002c0002t0160 a0002c0002t0161 a0002c0002t0162 a0002c0002t0163 a0002c0002t0164 a0002c0002t0165 a0002c0002t0166 a0002c0002t0167 a0002c0002t0169 a0003c0003t0027	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0015 others(310): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0160 a0001c0001t0001g0174 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0273 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0008g0007 a0001c0001t0008g0035 a0001c0001t0009g0037 a0001c0001t0009g0038 a0001c0001t0009g0179 a0001c0001t0009g0192 a0001c0001t0010g0004 a0001c0001t0010g0057 a0001c0001t0014g0008 a0001c0001t0014g0275 a0001c0001t0016g0020 a0001c0001t0016g0250 a0001c0001t0017g0042 a0001c0001t0017g0193 a0001c0001t0017g0200 a0001c0001t0018g0014 a0001c0001t0018g0249 a0001c0001t0019g0036 a0001c0001t0019g0188 a0001c0001t0019g0215 a0001c0001t0020g0034 a0001c0001t0020g0185 a0001c0001t0020g0190 a0001c0001t0024g0265 a0001c0001t0024g0267 a0001c0001t0024g0270 a0001c0001t0025g0208 a0001c0001t0025g0210 a0001c0001t0025g0213 a0001c0001t0026g0178 a0001c0001t0026g0181 a0001c0001t0026g0189 a0001c0001t0028g0016 a0001c0001t0029g0226 a0001c0001t0029g0230 a0001c0001t0029g0231 a0001c0001t0033g0172 a0001c0001t0033g0173 a0001c0001t0040g0033 a0001c0001t0041g0223 a0001c0001t0042g0041 a0001c0001t0043g0251 a0001c0001t0043g0259 a0001c0001t0044g0252 a0001c0001t0044g0254 a0001c0001t0045g0262 a0001c0001t0045g0264 a0001c0001t0046g0261 a0001c0001t0046g0269 a0001c0001t0047g0050 a0001c0001t0048g0255 a0001c0001t0048g0257 a0001c0001t0049g0276 a0001c0001t0049g0277 a0001c0001t0050g0029 a0001c0001t0051g0216 a0001c0001t0051g0218 a0001c0001t0052g0044 a0001c0001t0053g0229 a0001c0001t0053g0271 a0001c0001t0055g0056 a0001c0001t0056g0058 a0001c0001t0057g0055 a0001c0001t0118g0170 a0001c0001t0119g0169 a0001c0001t0120g0168 a0001c0001t0121g0241 a0001c0001t0122g0153 a0001c0001t0123g0268 a0001c0001t0124g0256 a0001c0001t0125g0067 a0001c0001t0126g0235 a0001c0001t0127g0176 a0001c0001t0128g0175 a0001c0001t0129g0236 a0001c0001t0130g0263 a0001c0001t0131g0186 a0001c0001t0132g0272 a0001c0001t0133g0242 a0001c0001t0134g0253 a0001c0001t0135g0237 a0001c0001t0136g0238 a0001c0001t0137g0239 a0001c0001t0138g0240 a0001c0001t0139g0266 a0001c0001t0140g0260 a0001c0001t0141g0284 a0001c0001t0142g0205 a0001c0001t0143g0203 a0001c0001t0144g0274 a0001c0001t0145g0224 a0001c0001t0146g0206 a0001c0001t0147g0227 a0001c0001t0148g0204 a0001c0001t0149g0180 a0001c0001t0150g0184 a0001c0001t0151g0182 a0001c0001t0152g0191 a0001c0001t0153g0225 a0001c0001t0154g0279 a0001c0001t0155g0220 a0001c0001t0156g0243 a0001c0001t0157g0202 a0001c0001t0158g0219 a0001c0001t0159g0245 a0001c0001t0168g0177 a0001c0001t0170g0311 a0001c0001t0171g0312 a0001c0001t0172g0313 a0001c0001t0173g0314 a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0075 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0094 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0285 a0002c0002t0003g0002 a0002c0002t0003g0021 a0002c0002t0003g0051 a0002c0002t0003g0289 a0002c0002t0003g0290 a0002c0002t0003g0293 a0002c0002t0003g0294 a0002c0002t0004g0010 a0002c0002t0004g0119 a0002c0002t0004g0120 a0002c0002t0004g0121 a0002c0002t0004g0123 a0002c0002t0004g0125 a0002c0002t0004g0130 a0002c0002t0004g0142 a0002c0002t0004g0146 a0002c0002t0004g0147 a0002c0002t0004g0149 a0002c0002t0004g0244 a0002c0002t0004g0258 a0002c0002t0005g0028 a0002c0002t0005g0104 a0002c0002t0005g0106 a0002c0002t0005g0107 a0002c0002t0005g0110 a0002c0002t0005g0111 a0002c0002t0006g0009 a0002c0002t0006g0063 a0002c0002t0006g0064 a0002c0002t0006g0065 a0002c0002t0006g0066 a0002c0002t0007g0031 a0002c0002t0007g0117 a0002c0002t0007g0118 a0002c0002t0007g0131 a0002c0002t0007g0139 a0002c0002t0011g0032 a0002c0002t0011g0151 a0002c0002t0011g0152 a0002c0002t0011g0155 a0002c0002t0012g0006 a0002c0002t0012g0157 a0002c0002t0013g0025 a0002c0002t0013g0091 a0002c0002t0013g0095 a0002c0002t0013g0101 a0002c0002t0015g0030 a0002c0002t0015g0136 a0002c0002t0015g0138 a0002c0002t0021g0011 a0002c0002t0022g0114 a0002c0002t0022g0137 a0002c0002t0022g0148 a0002c0002t0023g0027 a0002c0002t0023g0109 a0002c0002t0030g0053 a0002c0002t0030g0054 a0002c0002t0031g0059 a0002c0002t0031g0306 a0002c0002t0032g0060 a0002c0002t0032g0061 a0002c0002t0034g0115 a0002c0002t0034g0154 a0002c0002t0035g0132 a0002c0002t0035g0144 a0002c0002t0036g0077 a0002c0002t0036g0079 a0002c0002t0037g0026 a0002c0002t0038g0074 a0002c0002t0038g0081 a0002c0002t0039g0080 a0002c0002t0039g0099 a0002c0002t0054g0052 a0002c0002t0058g0309 a0002c0002t0059g0308 a0002c0002t0060g0310 a0002c0002t0061g0088 a0002c0002t0062g0164 a0002c0002t0063g0163 a0002c0002t0064g0062 a0002c0002t0065g0116 a0002c0002t0066g0156 a0002c0002t0067g0165 a0002c0002t0068g0134 a0002c0002t0069g0127 a0002c0002t0070g0128 a0002c0002t0071g0143 a0002c0002t0072g0135 a0002c0002t0073g0126 a0002c0002t0074g0140 a0002c0002t0075g0122 a0002c0002t0076g0129 a0002c0002t0077g0124 a0002c0002t0078g0133 a0002c0002t0079g0141 a0002c0002t0080g0145 a0002c0002t0081g0159 a0002c0002t0082g0078 a0002c0002t0083g0076 a0002c0002t0084g0162 a0002c0002t0085g0072 a0002c0002t0086g0087 a0002c0002t0087g0069 a0002c0002t0088g0096 a0002c0002t0089g0100 a0002c0002t0090g0073 a0002c0002t0091g0086 a0002c0002t0092g0092 a0002c0002t0093g0102 a0002c0002t0094g0161 a0002c0002t0095g0068 a0002c0002t0096g0108 a0002c0002t0097g0300 a0002c0002t0098g0302 a0002c0002t0099g0305 a0002c0002t0100g0303 a0002c0002t0101g0304 a0002c0002t0102g0307 a0002c0002t0103g0105 a0002c0002t0104g0167 a0002c0002t0105g0166 a0002c0002t0106g0171 a0002c0002t0107g0082 a0002c0002t0108g0083 a0002c0002t0109g0070 a0002c0002t0110g0071 a0002c0002t0111g0287 a0002c0002t0112g0286 a0002c0002t0113g0288 a0002c0002t0114g0158 a0002c0002t0115g0113 a0002c0002t0116g0112 a0002c0002t0117g0093 a0002c0002t0160g0103 a0002c0002t0161g0298 a0002c0002t0162g0292 a0002c0002t0163g0297 a0002c0002t0164g0299 a0002c0002t0165g0295 a0002c0002t0166g0296 a0002c0002t0167g0291 a0002c0002t0169g0150 a0003c0003t0027g0012	407	408	0.9976	-292	c.153 others(17): Show c.153+1284_153+1575del	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding	3/3			chr16	TogoVar
COG1_chr17_73188055_73213507	73194168	TGCGGTGG others(285): Show TGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGT GGATCACGAGGTCAGGAGATCCAGACCATCCTGGCTAACACGGTGAAACC CCGTCTCTACTAAAAATACACAAAATTAGCCAGGCGTGGTGGCCGGCGCC TGTAGTCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTG GGCCACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAGA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01256.hp1 HG03471.hp1 others(1): Show HG01069.hp1 HG01256.hp1 HG03471.hp1 HG04199.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0033 a0002c0001t0001g0122 a0002c0001t0001g0123 a0002c0001t0001g0033 a0002c0001t0001g0122 a0002c0001t0001g0123	4	428	0.0094	-292	c.315 others(16): Show c.315+785_315+1076del	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding	1/13			chr17	TogoVar
COL4A2_chr13_110302284_110518209	110355516	GTGGGGGA others(285): Show GTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGTAC TAGCTCACCTGTGTGGGGGGAGGGCAGTACCAGCTCACCTGTGTGTGTGG GGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCAGTAGC TCACCTGTGTGTGGGGGTGGAGGGCTGTACAGCTCACCTGTGTGAGTGGG GAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTC ACCTGTGTGTGGGGGTGGAGGGCTGTACAGCTCACCTGTGTGA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0193 a0001c0002t0001g0193	1	372	0.0027	-292	c.100 others(17): Show c.100-1955_100-1664del	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47			chr13	TogoVar
CORO2B_chr15_68573993_68732806	68691332	AAAAAAAA others(285): Show AAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG00621.hp2 others(39): Show HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00735.hp2 HG01175.hp1 HG01192.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG01978.hp1 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02155.hp2 HG02738.hp1 HG03239.hp1 HG03492.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03942.hp1 HG04184.hp2 HG04228.hp1 NA18947.hp2 NA18949.hp1 NA18966.hp1 NA18966.hp2 NA18975.hp1 NA18975.hp2 NA18983.hp2 NA19001.hp2 NA19002.hp1 NA19030.hp1 NA19030.hp2 NA19084.hp1 NA19085.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0024	a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0066 others(39): Show a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0086 a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0138 a0001c0001t0001g0155 a0001c0001t0001g0166 a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0001g0204 a0001c0001t0001g0209 a0001c0001t0002g0094 a0001c0001t0002g0098 a0001c0001t0002g0149 a0001c0001t0002g0167 a0001c0001t0002g0172 a0001c0001t0002g0176 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0231 a0001c0001t0003g0036 a0001c0001t0003g0084 a0001c0001t0003g0123 a0001c0001t0003g0137 a0001c0001t0003g0164 a0001c0001t0003g0177 a0001c0001t0003g0179 a0001c0001t0003g0227 a0001c0001t0004g0058 a0001c0001t0004g0136 a0001c0001t0004g0140 a0001c0001t0005g0035 a0001c0001t0005g0073 a0001c0001t0005g0206 a0001c0001t0006g0011 a0001c0001t0007g0184 a0001c0001t0024g0107	42	256	0.1641	-292	c.217 others(17): Show c.217-3796_217-3505del	CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
CPLANE2_chr1_16226692_16242183	16230397	GCTGGAAT others(285): Show GCTGGAATCAATTCTTCCTCTGGCCCAGACCCTGGAAGGGTTGACAAATG TAGGTGGCAGTACCCAGGGTGAATAGGCTGGCAGTGTGCATGGGCATGTG AGCAGTGTGCTTGGGCGCGGGCATCAGGACAGGTGAGTCTGGGCCTCCTG TGTGCCAGCCGGCAGGAGTGGAAAGTGCTTTCGTCCTAGCACAGGTGTGT GAGCACAGGTCATACTGTGTGAGTGGGGCCTGGTTACAGCTGCAGAGTTC TGAGAGTCAGCTGGCTTTGGGGACACTCTGCTTTGAGCCAGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	380	0.0026	-292	c.13 others(11): Show c.1359_*1650del	CPLANE2	ENSG00000132881.12	transcript	ENST00000375599.8	protein_coding		1294		chr1	TogoVar
CSF2RA_chrX_1263814_1314935	1287658	GATCTTGA others(285): Show GATCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAGAG TGCTGGCATTACAGGTGTGAGCCACTATGTCCGACCCTTTTTTTGGGGGG ATGGAGTCTCTGTCTGTCACCCAGGCTGGAGTGCACTGGCGTGATCTCAG CTCACTGCAACCTGTGCCTCCTGGGTTCAAGAGAGTCTCCTGCCTCAGCC TCCCGAGTAGCAGGGATTACAGGTGCCTGCCACCACACCTGGCTAATTTT TGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCT	G G	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0003 a0009c0013t0003	a0009c0013t0003g0153 a0009c0013t0003g0153	1	159	0.0063	-292	c.220 others(15): Show c.220-860_220-569del	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	4/12			chrX	TogoVar
CSRNP3_chr2_165464698_165694407	165625863	AGAGGTTG others(285): Show AGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAAAACTCCATCT CAAAAAAAAAAAAAGAAAAGAAAAAAATGACTGGGCACAGTGGCTCACAC CTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATTGCCTGAGGTC AGGAGTTTGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTCCTAA AAATACAAAAATTAGCCCAGCATGGTGGTGGGTGCCTATAATCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGGGGCG	A A	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA19009.hp2 NA19066.hp1 others(1): Show NA18984.hp1 NA19009.hp2 NA19066.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0015 a0001c0001t0020 a0001c0002t0021 others(1): Show a0001c0001t0015 a0001c0001t0020 a0001c0002t0021 a0001c0004t0088	a0001c0001t0015g0089 a0001c0001t0020g0088 a0001c0002t0021g0245 others(1): Show a0001c0001t0015g0089 a0001c0001t0020g0088 a0001c0002t0021g0245 a0001c0004t0088g0087	4	246	0.0163	-292	c.148 others(19): Show c.148+30674_148+30965del	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
DACT2_chr6_168301904_168324777	168317469	TGTGTGTA others(285): Show TGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGCAAACACACAAC AGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTG TCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTGTGGTGCAA ACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGT CTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGT CTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02129.hp2 HG03654.hp1 others(1): Show HG00438.hp2 HG02129.hp2 HG03654.hp1 HG03831.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0011 a0002c0003 a0001c0001 a0001c0011 a0002c0003	a0001c0001t0001 a0001c0011t0001 a0002c0003t0006 a0001c0001t0001 a0001c0011t0001 a0002c0003t0006	a0001c0001t0001g0313 a0001c0001t0001g0322 a0001c0011t0001g0323 others(1): Show a0001c0001t0001g0313 a0001c0001t0001g0322 a0001c0011t0001g0323 a0002c0003t0006g0324	4	476	0.0084	-292	c.246 others(17): Show c.246+1627_246+1918del	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
DEFB131A_chr4_9439414_9455666	9455374	CACAAGTG others(285): Show CACAAGTGATGGAGGAAGGATGGATTCGGTTACCAGATGGGAGAGTAGCT GCGCCACAGCTGCTGGGAGCTGCAGTTGTACTGGCTGTGCAAGAAACCAC CCATCGAGGTCAGGAGTCACTGGAAAAGTTGTTAGGCCGGTATTTCTACA TCTCACCTTTGTCAGCCCTTGCCAAAACGGTGAGGCAGCGGTGTGTTACC TGCCGACAGCATGATGCGAGGCAAGGTCTAGCCGTTCCGCCCGGCATACG AGCTTATGGAGCAGCCCCCTTTGAAGGTCTCCAGGTGGACTTC	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(212): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02896.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03492.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18954.hp1 NA18956.hp2 NA18957.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp1 NA18988.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0001c0001t0001 a0001c0001t0004 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(40): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0004g0027 a0001c0003t0001g0006	215	424	0.5071	-292	c.48 others(11): Show c.4861_*5152del	DEFB131A	ENSG00000186146.2	transcript	ENST00000334879.2	protein_coding		4709		chr4	TogoVar
DNAJC25_chr9_111626334_111659345	111640916	GCCGTCCG others(285): Show GCCGTCCGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCG CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCTGGCCAGCCACCCCGTCC GGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCCCCATCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCC	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01168.hp2 HG01169.hp2 others(16): Show HG01074.hp1 HG01168.hp2 HG01169.hp2 HG01256.hp1 HG01258.hp1 HG01515.hp2 HG02280.hp1 HG02300.hp2 HG02559.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG06807.hp1 NA18906.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0004 a0001c0002t0003 a0002c0003t0003 a0001c0001t0004 a0001c0002t0003 a0002c0003t0003	a0001c0001t0004g0138 a0001c0002t0003g0036 a0001c0002t0003g0037 others(13): Show a0001c0001t0004g0138 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0119 a0001c0002t0003g0120 a0001c0002t0003g0121 a0001c0002t0003g0122 a0001c0002t0003g0123 a0001c0002t0003g0124 a0001c0002t0003g0125 a0001c0002t0003g0126 a0002c0003t0003g0251 a0002c0003t0003g0252 a0002c0003t0003g0253 a0002c0003t0003g0254	19	412	0.0461	-292	c.337 others(17): Show c.337-6182_337-5891del	DNAJC25	ENSG00000059769.20	transcript	ENST00000313525.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPH7_chr9_137549444_137583925	137567050	TCTGTCTG others(285): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTC TGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	340	0.0029	-292	c.641 others(17): Show c.641-2188_641-1897del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137429851	GGGGGGGG others(285): Show GGGGGGGGGGGTCCCTGCGTCCCTGCCACAGATAGCGAGGTCCTGGGGGG ATGCCTGTGTGCCTGCCACAGATAGCGAGGTCCCCGGGGGGGTGCCTGTG TCCCTGCCACAGACAGCGAGGTCCCAGGGGGGTGCCTGTGTCCCTGCCAC AGGTAGCGAGGTCCCGGGGGGGGTGCCTGTGTCTCTGCCACAGCTAGCGA GGTCCCGGGGGGCGGGGGTGCCTGTGTCCCTGCCACAGATAGCGAGGTCC CGGGGGGTCTCCCTGTGTCCCTGCCACAGATAGCGAGGTCCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02818.hp1 HG02897.hp2 others(2): Show HG02647.hp1 HG02818.hp1 HG02897.hp2 HG03209.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 a0001c0001 a0001c0005 a0001c0007	a0001c0001t0003 a0001c0005t0003 a0001c0007t0003 a0001c0001t0003 a0001c0005t0003 a0001c0007t0003	a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0005t0003g0051 others(1): Show a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0005t0003g0051 a0001c0007t0003g0043	5	392	0.0128	-292	c.47 others(11): Show c.4771_*5062del	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding		4512		chr9	TogoVar
FLT4_chr5_180596506_180654600	180635362	ATGGATGG others(285): Show ATGGATGGATGGATGGAAGTATGGGTGGATGGGAGGGTGGGTGGATGGAT GGATGGATGGAAGTATGGGTGGATGGGAGGGTGGGTGGATGGATGGATGG AAGTATGGGTGGATGGGTGGGTGGGTGGTGGGATGGAAGTGTGGGTGGAT GGGAGGGTGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18993.hp1 NA19056.hp1 HG00609.hp2 NA18993.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0205 a0002c0002t0004g0203 a0002c0002t0004g0204 a0002c0002t0001g0205 a0002c0002t0004g0203 a0002c0002t0004g0204	3	388	0.0077	-292	c.59- others(15): Show c.59-3876_59-3585del	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
HTR1E_chr6_86932528_87021679	87010245	TTCTCAGT others(285): Show TTCTCAGTAGGGGCGGCCGGGCAGAGGTGCCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGG TGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGACCGGGC AGAGACGCTCCTCACCTCCCAGACGGGGTCTCGGCCGGGCAGAGGCGCTC CTCACATCCCAGATGGGGCGGCGGGGCAGAGGCGCTCCCCACA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG03704.hp2 HG04199.hp1 others(1): Show HG01071.hp1 HG03704.hp2 HG04199.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0211 a0001c0001t0001g0216 others(1): Show a0001c0001t0001g0079 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0217	4	300	0.0133	-292	c.-18 others(19): Show c.-185-4898_-185-4607del	HTR1E	ENSG00000168830.8	transcript	ENST00000305344.7	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
INPP5A_chr10_132532787_132788480	132573300	TGTGTGAG others(285): Show TGTGTGAGGTTTTGTTGAGATGTTGGGGTGTGTGTGCTGTGTGAGGTTTT GTTGATGTTGAGGTGTGTGTGCCGTGTGAGGTTTTGTTGAGATGTTGGGG TGTGCGTGCCGTGTGAGGTTTTGTTGAGATGTTGGGGTGTACGTGCCGTG TGAGGTTTTGTTGAGATGTTGGGGTGTACGTGCCGTGTGAGGTTTTGTTG AGATGTTGGGGTGTGTGTGCTGTGTGAGGTTTTGTTGATGTTGGGTTGTG TGTGCTGTGGGAGGTTTTGTTGAGATGTTGGGGTGTGTGTGCC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03139.hp2 HG03195.hp1 others(2): Show HG02717.hp2 HG03139.hp2 HG03195.hp1 HG03540.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0001 a0001c0001t0002 a0001c0001t0013	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 others(2): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0002g0071 a0001c0001t0013g0024	5	204	0.0245	-292	c.76- others(17): Show c.76-34583_76-34292del	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5E_chr9_136423619_136444845	136431265	GCCCCCCC others(285): Show GCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCA GGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCAC CTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTC ATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCT CCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCG CCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18522.hp2 HG02109.hp1 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0044 a0001c0004t0004g0044	2	382	0.0052	-292	c.154 others(17): Show c.1549+267_1550-149del	INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9			chr9	TogoVar
LRRC24_chr8_144517388_144532033	144531741	GGGCTAGA others(285): Show GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGC AGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0007 a0001c0005t0001g0007	1	398	0.0025	-292	c.-51 others(11): Show c.-5133_-4842del	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4709		chr8	TogoVar
MITF_chr3_69734464_69973332	69796479	ACAAACAC others(285): Show ACAAACACCGTCTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTGCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTGGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03516.hp1 HG02559.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0135 a0001c0001t0001g0088 a0001c0001t0001g0135	2	178	0.0112	-292	c.104 others(19): Show c.104+56795_104+57086del	MITF	ENSG00000187098.18	transcript	ENST00000352241.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MOBP_chr3_39462680_39508027	39468792	GTGTATAT others(285): Show GTGTATATATACATATGTGTGTGTATACATATTACATATGTGTGTATATA TACATATATACATGAGTGTGTATATATACATATATACATATGTGTGTGTA TATATACATATATACATATGAGTGTGTATATATACATATATACATTGTGT GTATATATACATATATACATATGTGTGTGTATATATACATATATACATAT GTGTGTGTATATATACATATATACATATGTGTGTATATATATACATATAT ACATATGTGTGTGTATATACATATATACATATGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG01109.hp1 others(11): Show HG00099.hp1 HG00642.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01361.hp1 HG01496.hp1 HG01516.hp2 HG02148.hp1 HG03516.hp2 HG03704.hp2 HG03831.hp1 NA18906.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0037 a0001c0001t0002g0211 others(8): Show a0001c0001t0002g0014 a0001c0001t0002g0037 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0235	14	400	0.0350	-292	c.-89 others(17): Show c.-89+1054_-89+1345del	MOBP	ENSG00000168314.19	transcript	ENST00000684792.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
MUC5AC_chr11_1152953_1206138	1154609	CATTCACT others(285): Show CATTCACTCATTCATTCACCCATTCACTCACTCACTTATTCACTCACTCT CTCACTCATTCATTAATTCGCCCATTCACTCACACTTTCACTCACTCACT TATTCACTCATACACTCATTCACTTATTTACTCACTCATTCACTCACTCA TTAATTCACCCATTCACTCACTCACTTATTCACTCATAGACTCATACACT CACTCATTCACTCACGCATCCACTCATTCACTCACTCATTTACCCACTCA CTCACTCACCCACTCACTTATTCACTCACTCACCCACTCACTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00438.hp1 others(56): Show HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01496.hp2 HG01891.hp1 HG01952.hp2 HG01981.hp2 HG02056.hp2 HG02071.hp1 HG02129.hp1 HG02698.hp2 HG02738.hp1 HG03017.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03710.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18612.hp2 NA18944.hp1 NA18945.hp2 NA18952.hp2 NA18954.hp1 NA18957.hp1 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18980.hp2 NA18983.hp1 NA18985.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA19012.hp2 NA19055.hp1 NA19056.hp2 NA19060.hp2 NA19070.hp2 NA19079.hp2 NA19081.hp2 NA19089.hp1 NA19091.hp2 NA20905.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0011 a0012 a0022 a0024 a0034 a0037 a0038 a0039 a0065 a0066 a0073 a0074 a0075	a0001c0001 a0001c0011 a0001c0028 others(22): Show a0001c0001 a0001c0011 a0001c0028 a0002c0069 a0003c0080 a0004c0003 a0004c0024 a0004c0045 a0004c0046 a0004c0047 a0004c0050 a0011c0018 a0012c0017 a0022c0060 a0022c0061 a0024c0025 a0034c0078 a0037c0051 a0038c0048 a0039c0049 a0065c0066 a0066c0071 a0073c0072 a0074c0043 a0075c0073	a0001c0001t0001 a0001c0011t0001 a0001c0028t0001 others(22): Show a0001c0001t0001 a0001c0011t0001 a0001c0028t0001 a0002c0069t0001 a0003c0080t0001 a0004c0003t0001 a0004c0024t0001 a0004c0045t0001 a0004c0046t0001 a0004c0047t0001 a0004c0050t0001 a0011c0018t0001 a0012c0017t0001 a0022c0060t0001 a0022c0061t0001 a0024c0025t0001 a0034c0078t0001 a0037c0051t0001 a0038c0048t0001 a0039c0049t0001 a0065c0066t0001 a0066c0071t0001 a0073c0072t0001 a0074c0043t0001 a0075c0073t0001	a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0038 others(48): Show a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0158 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0217 a0001c0011t0001g0006 a0001c0028t0001g0208 a0002c0069t0001g0190 a0003c0080t0001g0180 a0004c0003t0001g0014 a0004c0003t0001g0027 a0004c0003t0001g0033 a0004c0003t0001g0168 a0004c0003t0001g0173 a0004c0003t0001g0175 a0004c0003t0001g0178 a0004c0003t0001g0185 a0004c0003t0001g0200 a0004c0003t0001g0201 a0004c0003t0001g0202 a0004c0003t0001g0204 a0004c0003t0001g0205 a0004c0003t0001g0210 a0004c0003t0001g0213 a0004c0003t0001g0216 a0004c0003t0001g0219 a0004c0024t0001g0001 a0004c0045t0001g0001 a0004c0046t0001g0207 a0004c0047t0001g0164 a0004c0050t0001g0033 a0011c0018t0001g0026 a0011c0018t0001g0199 a0012c0017t0001g0001 a0022c0060t0001g0015 a0022c0061t0001g0041 a0024c0025t0001g0015 a0034c0078t0001g0037 a0037c0051t0001g0203 a0038c0048t0001g0174 a0039c0049t0001g0001 a0065c0066t0001g0039 a0066c0071t0001g0148 a0073c0072t0001g0176 a0074c0043t0001g0001 a0075c0073t0001g0001	59	292	0.2021	-292	c.-33 others(11): Show c.-3390_-3099del	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding		3343		chr11	TogoVar
NOXA1_chr9_137418393_137439406	137429851	GGGGGGGG others(285): Show GGGGGGGGGGGTCCCTGCGTCCCTGCCACAGATAGCGAGGTCCTGGGGGG ATGCCTGTGTGCCTGCCACAGATAGCGAGGTCCCCGGGGGGGTGCCTGTG TCCCTGCCACAGACAGCGAGGTCCCAGGGGGGTGCCTGTGTCCCTGCCAC AGGTAGCGAGGTCCCGGGGGGGGTGCCTGTGTCTCTGCCACAGCTAGCGA GGTCCCGGGGGGCGGGGGTGCCTGTGTCCCTGCCACAGATAGCGAGGTCC CGGGGGGTCTCCCTGTGTCCCTGCCACAGATAGCGAGGTCCCT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02818.hp2 HG02896.hp1 others(4): Show HG02647.hp2 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03209.hp2 HG03540.hp2	a0005 a0012 a0005 a0012	a0005c0005 a0012c0017 a0005c0005 a0012c0017	a0005c0005t0001 a0012c0017t0001 a0005c0005t0001 a0012c0017t0001	a0005c0005t0001g0017 a0005c0005t0001g0034 a0005c0005t0001g0069 others(1): Show a0005c0005t0001g0017 a0005c0005t0001g0034 a0005c0005t0001g0069 a0012c0017t0001g0017	7	404	0.0173	-292	c.612 others(15): Show c.612+476_613-634del	NOXA1	ENSG00000188747.9	transcript	ENST00000683555.1	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
NSUN4_chr1_46335807_46370018	46337660	CAAGAATC others(285): Show CAAGAATCCCAACAATCTGGGAGGCCGGAGCGGGCGGATCACGAGGTCAG GAGATCGAGACAATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAA ATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCAGAAATAGCGCCACTGCACTCCGGCCTGGGTGAAAGAGCAAGG CTCCGTCTCAAAAAAAAAAAAAAACACACACACACACACAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG02717.hp1 HG03834.hp2 others(2): Show HG00544.hp2 HG02717.hp1 HG03834.hp2 NA18959.hp2 NA19240.hp2	a0004 a0007 a0009 a0004 a0007 a0009	a0004c0004 a0007c0007 a0009c0010 a0004c0004 a0007c0007 a0009c0010	a0004c0004t0004 a0004c0004t0052 a0007c0007t0027 others(1): Show a0004c0004t0004 a0004c0004t0052 a0007c0007t0027 a0009c0010t0053	a0004c0004t0004g0336 a0004c0004t0052g0308 a0007c0007t0027g0310 others(2): Show a0004c0004t0004g0336 a0004c0004t0052g0308 a0007c0007t0027g0310 a0007c0007t0027g0311 a0009c0010t0053g0029	5	388	0.0129	-292	c.-31 others(11): Show c.-3166_-2875del	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding		3146		chr1	TogoVar
POU2F3_chr11_120235140_120324945	120323691	ATTGATAT others(285): Show ATTGATATCTACACAGAGATTCTGATTTACTTTTTTCGGAGTGTGCCCTG GGTATTAGGATTTTAAATAGCTCCCAAGTGATACTACCATGCTATCAAGA TTAAGAACTACGACCCAAATGTGTATACGAATCACTGGGGAACTTGTTAA AATGCACATTCTAGTTTGGTAGGTCCAGGGGTAGGTTCTGAGATTCTGAG TCTCTAATGAACTCCAAGGTGATGCAGATTTTGCTGGTCCATAGACCACA CTTTGAGTAGCAAGGGCTTGGAGAGCATGATAATATGATTCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0262 a0001c0001t0023g0262	1	320	0.0031	-292	c.53 others(11): Show c.5300_*5591del	POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding		3747		chr11	TogoVar
PRDM15_chr21_41793225_41884344	41806012	CCACCATC others(285): Show CCACCATCACCACCACCACCATCACCACCACCATCACCACCACCACCATC ACCATCACCACCACCATCACCACCACCACCATCACCACCACCATCACCAC CACCACCACCACCATCACCACCACCATCACCACCACCACCACCATCACCA TCACCACCACCATCACCACCACCACCATCACCACCACCACCATCACCATC ACCATCACCATCACCACCATCACTACCACCATCACCACCACCACCATCAC CACCACCCATCACCACCACCACCATCACCATCACCACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00544.hp2 others(52): Show HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG01168.hp1 HG01433.hp1 HG01433.hp2 HG02027.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02300.hp1 HG02630.hp2 HG02683.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp1 HG03017.hp1 HG03130.hp1 HG03490.hp2 HG03492.hp2 HG03579.hp1 HG03669.hp1 HG03927.hp2 HG04204.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18951.hp2 NA18964.hp1 NA18969.hp1 NA18970.hp2 NA18973.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18992.hp1 NA19000.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19055.hp2 NA19056.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp2 NA19088.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0001c0003 a0001c0005 others(7): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0008 a0001c0054 a0002c0050 a0003c0022 a0006c0039 a0007c0047	a0001c0001t0004 a0001c0001t0016 a0001c0003t0001 others(12): Show a0001c0001t0004 a0001c0001t0016 a0001c0003t0001 a0001c0003t0029 a0001c0005t0006 a0001c0005t0007 a0001c0005t0049 a0001c0006t0004 a0001c0008t0001 a0001c0008t0031 a0001c0054t0001 a0002c0050t0005 a0003c0022t0001 a0006c0039t0036 a0007c0047t0001	a0001c0001t0004g0057 a0001c0001t0004g0168 a0001c0001t0004g0171 others(52): Show a0001c0001t0004g0057 a0001c0001t0004g0168 a0001c0001t0004g0171 a0001c0001t0004g0180 a0001c0001t0004g0201 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0227 a0001c0001t0004g0242 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0248 a0001c0001t0004g0253 a0001c0001t0004g0354 a0001c0001t0004g0386 a0001c0001t0004g0387 a0001c0001t0004g0388 a0001c0001t0016g0145 a0001c0001t0016g0147 a0001c0001t0016g0169 a0001c0003t0001g0032 a0001c0003t0001g0053 a0001c0003t0001g0071 a0001c0003t0001g0081 a0001c0003t0001g0088 a0001c0003t0001g0092 a0001c0003t0001g0095 a0001c0003t0001g0100 a0001c0003t0001g0177 a0001c0003t0001g0237 a0001c0003t0001g0240 a0001c0003t0001g0307 a0001c0003t0001g0358 a0001c0003t0029g0077 a0001c0005t0006g0135 a0001c0005t0007g0269 a0001c0005t0049g0403 a0001c0006t0004g0308 a0001c0008t0001g0132 a0001c0008t0001g0151 a0001c0008t0001g0153 a0001c0008t0001g0178 a0001c0008t0001g0189 a0001c0008t0001g0191 a0001c0008t0001g0192 a0001c0008t0001g0267 a0001c0008t0031g0179 a0001c0054t0001g0199 a0002c0050t0005g0244 a0003c0022t0001g0342 a0003c0022t0001g0343 a0006c0039t0036g0054 a0007c0047t0001g0243	55	406	0.1355	-292	c.265 others(19): Show c.2653-1690_2653-1399del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41806048	CCACCACC others(285): Show CCACCACCACCATCACCATCACCACCACCATCACCACCACCACCATCACC ACCACCATCACCACCACCACCACCACCATCACCACCACCATCACCACCAC CACCACCATCACCATCACCACCACCATCACCACCACCACCATCACCACCA CCACCATCACCATCACCATCACCATCACCACCATCACTACCACCATCACC ACCACCACCATCACCACCACCCATCACCACCACCACCATCACCATCACCA CCACCATCACCACCACCACCATCACCACCACCACCATCACCAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02109.hp2 HG02451.hp1 others(12): Show HG01081.hp2 HG02109.hp2 HG02451.hp1 HG02622.hp2 HG02717.hp2 HG02886.hp2 HG02895.hp2 HG02965.hp1 HG02970.hp2 HG03471.hp1 HG03579.hp2 HG06807.hp1 NA18906.hp2 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0001c0026	a0001c0001t0006 a0001c0001t0043 a0001c0005t0006 others(3): Show a0001c0001t0006 a0001c0001t0043 a0001c0005t0006 a0001c0005t0047 a0001c0006t0006 a0001c0026t0006	a0001c0001t0006g0108 a0001c0001t0006g0110 a0001c0001t0006g0112 others(12): Show a0001c0001t0006g0108 a0001c0001t0006g0110 a0001c0001t0006g0112 a0001c0001t0006g0113 a0001c0001t0006g0130 a0001c0001t0006g0260 a0001c0001t0006g0261 a0001c0001t0006g0265 a0001c0001t0043g0115 a0001c0005t0006g0120 a0001c0005t0047g0015 a0001c0006t0006g0344 a0001c0006t0006g0345 a0001c0026t0006g0111 a0001c0026t0006g0114	15	406	0.0370	-292	c.265 others(19): Show c.2653-1726_2653-1435del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41806105	TCACCACC others(285): Show TCACCACCACCACCACCACCATCACCACCACCATCACCACCACCACCACC ATCACCATCACCACCACCATCACCACCACCACCATCACCACCACCACCAT CACCATCACCATCACCATCACCACCATCACTACCACCATCACCACCACCA CCATCACCACCACCCATCACCACCACCACCATCACCATCACCACCACCAT CACCACCACCACCATCACCACCACCACCATCACCATCACCACCACCATCA CCACCACCACCATCACTACCACCATCACCACCACCACCATCAC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01175.hp2 HG01346.hp1 HG00738.hp2 HG01175.hp2 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0002 a0001c0012t0002 a0001c0002t0002 a0001c0012t0002	a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0012t0002g0384 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0012t0002g0384	3	406	0.0074	-292	c.265 others(19): Show c.2653-1783_2653-1492del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41806120	CCACCATC others(285): Show CCACCATCACCACCACCATCACCACCACCACCACCATCACCATCACCACC ACCATCACCACCACCACCATCACCACCACCACCATCACCATCACCATCAC CATCACCACCATCACTACCACCATCACCACCACCACCATCACCACCACCC ATCACCACCACCACCATCACCATCACCACCACCATCACCACCACCACCAT CACCACCACCACCATCACCATCACCACCACCATCACCACCACCACCATCA CTACCACCATCACCACCACCACCATCACCACCACCACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0056 a0001c0056	a0001c0056t0004 a0001c0056t0004	a0001c0056t0004g0229 a0001c0056t0004g0229	1	406	0.0025	-292	c.265 others(19): Show c.2653-1798_2653-1507del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PTPRH_chr19_55176247_55214501	55208425	GGACTCCT others(285): Show GGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTGGACTCCTGGGCC TGAAGGAGGAGGGACTGGGGGTCTGGACCCCTGAGTCTGAGGGAAGAGGG GCTGGGGGTCTGGACTCCTGAGTCTGAGGGAGGAGGGGTTGGGGGCCTGG ACTCTTGGTTTGAGGGAGGAAGGGCTGGGGGCCTGGACTCCCGGGTCTGA GGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTG GGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGTCT	G G	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0122 a0001c0004t0001g0122	1	378	0.0027	-292	c.51+ others(13): Show c.51+666_51+957del	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
RAB40A_chrX_103494130_103524489	103523994	CCACCAGG others(285): Show CCACCAGGGATGGAAGTGTTGGGGGTCTCCTTAGGACTGCTGCCCTTCAA ATCTGAAGTAGAAGCTTCAGCAGCCATCACGACCCAGATCCTCAAAGCCC ATCTCCTTCATACACCTGTTATGAGTTCAATAACCTGATGAAGATCTGCA CAGGGACAGAGAGAATCCAGCAATCACTGTGCTTTCTTAGAGTAACAGTG TGCCAGGAACCATCTTAGGCACTGGGTCAGTGACCAGTGACACTGATACA ATTGGGTAGTGATCATTACAACCAGAAGATACAATGGGTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	266	0.0038	-292	c.-51 others(11): Show c.-5139_-4848del	RAB40A	ENSG00000172476.4	transcript	ENST00000304236.2	protein_coding		4506		chrX	TogoVar
RPS6KA6_chrX_84053350_84193199	84191575	CATATATA others(285): Show CATATATATATATATCCATATATATATCCATATATATATCCATATATATA TATCCATATATATATATCCATATATATATATCCATATATATATATCCATA TATATATATCCATATATATATATCCATATATATATATCCATATATATATA TCCATATATATATATCCATATATATATCCATATATATATATCCATATATA TATATCCATATATATATATCCATATATATATATCCATATATATATATCCA TATATATATATCCATATATATATATCCATATATATATATCCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02129.hp1 NA18939.hp2 others(4): Show HG02071.hp1 HG02129.hp1 NA18939.hp2 NA18943.hp1 NA19075.hp1 NA19085.hp1 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0021 a0002c0002t0037 others(2): Show a0002c0002t0020 a0002c0002t0021 a0002c0002t0037 a0002c0002t0038 a0002c0002t0039	a0002c0002t0020g0018 a0002c0002t0020g0019 a0002c0002t0021g0017 others(4): Show a0002c0002t0020g0018 a0002c0002t0020g0019 a0002c0002t0021g0017 a0002c0002t0021g0020 a0002c0002t0037g0022 a0002c0002t0038g0024 a0002c0002t0039g0021	7	272	0.0257	-292	c.-39 others(11): Show c.-3968_-3677del	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding		3377		chrX	TogoVar
TAFA5_chr22_48484553_48756932	48497489	GCCTGGGG others(285): Show GCCTGGGGGCGGGGCTGAGGCCTGGGGGCGGGGCTGAGGGTCAGAGGAGT AGCTGGAATCCTGGGGGCGGGGCTGAGGCCTGGGGGCGGGGCTGAGGGTC AGAGGAGTAGCTGGAATCCTGGGGGCGGGGCTGGAGGCCTGGGGGCGGGG CTGAGGGTCAGAGGAGTAGCTGGAATCCTGGGGGCGGGGCTGAGGCCTGG GGGCGGGGCTGAGGGTCAGAGGAGTAGCTGGAATCCTGGGGGCGGGGCTG GAGGCCTGGGGGCGGGGCTGAGGGTCAGAGGAGTAGCTGGAAT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0018 a0001c0001t0028g0018	1	258	0.0039	-292	c.112 others(17): Show c.112+7860_112+8151del	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TERT_chr5_1248167_1300068	1273262	ACACATCA others(285): Show ACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGA CCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCTGTGACCGAT CGCCATCCACAGTCACCACACATCAGACCCCCGGGACCAACCGCCATCCA CAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	392	0.0026	-292	c.228 others(18): Show c.2287-1274_2287-983del	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TLCD5_chr11_120320299_120338686	120323691	ATTGATAT others(285): Show ATTGATATCTACACAGAGATTCTGATTTACTTTTTTCGGAGTGTGCCCTG GGTATTAGGATTTTAAATAGCTCCCAAGTGATACTACCATGCTATCAAGA TTAAGAACTACGACCCAAATGTGTATACGAATCACTGGGGAACTTGTTAA AATGCACATTCTAGTTTGGTAGGTCCAGGGGTAGGTTCTGAGATTCTGAG TCTCTAATGAACTCCAAGGTGATGCAGATTTTGCTGGTCCATAGACCACA CTTTGAGTAGCAAGGGCTTGGAGAGCATGATAATATGATTCCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0171 a0001c0001t0029g0171	1	432	0.0023	-292	c.-16 others(11): Show c.-1678_-1387del	TLCD5	ENSG00000181264.9	transcript	ENST00000375095.3	protein_coding		1607		chr11	TogoVar

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Search Results (Total: 10000 hits)