Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CPNE4_chr3_131528569_132040014	131776234	ATTTGTTA others(45): Show ATTTGTTATGGACCTGATGTCAATACCTCCTTCAGTAAGATTGTGTCCCT TCT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02602.hp1 HG02735.hp1 others(9): Show HG01169.hp2 HG02602.hp1 HG02735.hp1 HG03239.hp1 HG03239.hp2 HG04228.hp2 NA18522.hp2 NA18946.hp1 NA18962.hp2 NA18966.hp2 NA18971.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0002t0002 a0001c0002t0009 a0001c0003t0001	a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0002g0076 others(9): Show a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0083 a0001c0001t0003g0037 a0001c0001t0005g0084 a0001c0001t0008g0064 a0001c0001t0009g0067 a0001c0002t0002g0082 a0001c0002t0009g0068 a0001c0003t0001g0005	12	94	0.1277	-52	c.181 others(71): Show c.181-52661_181-52610delAGAAGGGACACAATCTTACTGAAGGA GGTATTGACATCAGGTCCATAACAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE7_chr16_89570758_89602246	89588065	CCCCCCGT others(45): Show CCCCCCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCACAGATACA CGG	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02273.hp2 HG02280.hp1 others(3): Show HG02071.hp1 HG02273.hp2 HG02280.hp1 HG03225.hp1 HG03225.hp2 NA19000.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0002t0004 a0001c0007t0006 others(1): Show a0001c0001t0001 a0001c0002t0004 a0001c0007t0006 a0002c0003t0003	a0001c0001t0001g0140 a0001c0002t0004g0132 a0001c0007t0006g0071 others(3): Show a0001c0001t0001g0140 a0001c0002t0004g0132 a0001c0007t0006g0071 a0001c0007t0006g0158 a0001c0007t0006g0162 a0002c0003t0003g0116	6	348	0.0172	-52	c.928 others(67): Show c.928-600_928-549delTACCCACAGATACACGGCCCCCGTGTCACC CACAGATACACGGCCCCCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588075	TACCCACA others(45): Show TACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGT GTC	T T	intron_variant intron_variant	MODIFIER	HG01928.hp1 NA18945.hp2 HG01928.hp1 NA18945.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0010 a0001c0002 a0002c0010	a0001c0002t0004 a0002c0010t0001 a0001c0002t0004 a0002c0010t0001	a0001c0002t0004g0038 a0002c0010t0001g0245 a0001c0002t0004g0038 a0002c0010t0001g0245	2	348	0.0058	-52	c.928 others(67): Show c.928-595_928-544delACAGATACACGGCCCCCGTGTCACCCACAG ATACACGGCCCCCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CREB5_chr7_28407518_28830894	28560933	TGTGCGTG others(45): Show TGTGCGTGCGTGTGTGTGCGTGTGTGTGCGTGTGTGTGTGCGTGTGTGCG TGC	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0179 a0001c0001t0036g0179	1	198	0.0051	-52	c.292 others(69): Show c.292-9428_292-9377delCGTGCGTGTGTGTGCGTGTGTGTGCGTG TGTGTGTGCGTGTGTGCGTGCGTG	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CRISPLD1_chr8_74979505_75039558	75030704	GTGTATAT others(45): Show GTGTATATGTATGTGTGTGTGTCTGTGTATATATGTATGAGTGTGTGTAT ATA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0223 a0001c0002t0005g0223	1	368	0.0027	-52	c.145 others(71): Show c.1451+1191_1451+1242delATATGTATGTGTGTGTGTCTGTGTAT ATATGTATGAGTGTGTGTATATATGT	CRISPLD1	ENSG00000121005.9	transcript	ENST00000262207.9	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
CRLF2_chrX_1185490_1217649	1211873	GTAGATGG others(45): Show GTAGATGGATGGGTGGATGGGTGGATGGATGGATGGATGTATTGGTGGAT GGA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0016 a0001c0003t0001g0016	1	167	0.0060	-52	c.79+ others(65): Show c.79+631_79+682delTCCATCCACCAATACATCCATCCATCCATCCA CCCATCCACCCATCCATCTA	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	1/7			chrX	TogoVar
CSMD1_chr8_2930361_4999914	3671508	TATATGAT others(45): Show TATATGATCATATATATGATCATATATATATATATATGATCATATATATG ATC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03225.hp1 HG01243.hp1 HG03225.hp1	a0001 a0005 a0001 a0005	a0001c0017 a0005c0064 a0001c0017 a0005c0064	a0001c0017t0005 a0005c0064t0051 a0001c0017t0005 a0005c0064t0051	a0001c0017t0005g0003 a0005c0064t0051g0078 a0001c0017t0005g0003 a0005c0064t0051g0078	2	126	0.0159	-52	c.100 others(73): Show c.1009+36854_1009+36905delGATCATATATATGATCATATATAT ATATATATGATCATATATATGATCATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3838696	AAATATTA others(45): Show AAATATTATATAGTATAATATATAATAAATTAATATTATATAGTATAATA TAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01123.hp2 HG01243.hp1 others(12): Show HG01081.hp1 HG01123.hp2 HG01243.hp1 HG02055.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG03225.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0005 a0006 a0017 a0019 a0020 a0026 a0033 a0034	a0001c0001 a0001c0003 a0001c0025 others(12): Show a0001c0001 a0001c0003 a0001c0025 a0001c0068 a0002c0035 a0003c0057 a0003c0058 a0005c0064 a0006c0116 a0017c0106 a0019c0018 a0020c0024 a0026c0082 a0033c0042 a0034c0055	a0001c0001t0002 a0001c0003t0008 a0001c0025t0003 others(12): Show a0001c0001t0002 a0001c0003t0008 a0001c0025t0003 a0001c0068t0015 a0002c0035t0047 a0003c0057t0080 a0003c0058t0057 a0005c0064t0051 a0006c0116t0004 a0017c0106t0012 a0019c0018t0058 a0020c0024t0077 a0026c0082t0052 a0033c0042t0004 a0034c0055t0034	a0001c0001t0002g0125 a0001c0003t0008g0053 a0001c0025t0003g0077 others(12): Show a0001c0001t0002g0125 a0001c0003t0008g0053 a0001c0025t0003g0077 a0001c0068t0015g0049 a0002c0035t0047g0076 a0003c0057t0080g0075 a0003c0058t0057g0117 a0005c0064t0051g0078 a0006c0116t0004g0039 a0017c0106t0012g0042 a0019c0018t0058g0068 a0020c0024t0077g0104 a0026c0082t0052g0097 a0033c0042t0004g0004 a0034c0055t0034g0047	15	126	0.1191	-52	c.819 others(71): Show c.819-84706_819-84655delATATATTATACTATATAATATTAATT TATTATATATTATACTATATAATATT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542620	ATATATAT others(45): Show ATATATATATATATATATATGTATATATATATATATATATATATATATAT ATG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp2 HG02027.hp1 others(8): Show HG00639.hp1 HG01109.hp2 HG02027.hp1 HG02523.hp1 HG02683.hp2 HG02922.hp1 HG03540.hp2 HG03831.hp2 NA18612.hp1 NA18945.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 a0001c0001t0017	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0035 others(8): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0008g0116 a0001c0001t0008g0171 a0001c0001t0012g0027 a0001c0001t0012g0083 a0001c0001t0017g0026	11	390	0.0282	-52	c.230 others(69): Show c.230+7403_230+7454delCATATATATATATATATATATATATATA TATACATATATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1G1_chr15_64160525_64361173	64277657	CAATATTG others(45): Show CAATATTGATATATTTAATAATATAGCAATATTGATATATTTAATAATAT ATT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0006 a0001c0001t0020g0006	1	176	0.0057	-52	c.182 others(71): Show c.182-18468_182-18417delAATATATTATTAAATATATCAATATT GCTATATTATTAAATATATCAATATT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	2/11			chr15	TogoVar
CSRP3_chr11_19177030_19206983	19197364	CCCTCCCT others(45): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTC CTT	C C	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02922.hp1 HG01978.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0279 a0001c0003t0001g0239 a0001c0001t0001g0279 a0001c0003t0001g0239	2	416	0.0048	-52	c.-29 others(69): Show c.-29+4538_-29+4589delAAGGAAGGAAGGAAGGAAGGAAGGAAGG GAGGGAGGGAGGGAGGGAGGGAGG	CSRP3	ENSG00000129170.10	transcript	ENST00000265968.9	protein_coding	1/5			chr11	TogoVar
CTIF_chr18_48534031_48868217	48730406	CACGGTGT others(45): Show CACGGTGTGTGGGGCCCCTGCGCTGTGAGGGGCCCCTGTGGTGTGAGGGG CTT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0047 a0001c0001t0021g0047	1	144	0.0069	-52	c.584 others(71): Show c.584+18712_584+18763delACGGTGTGTGGGGCCCCTGCGCTGTG AGGGGCCCCTGTGGTGTGAGGGGCTT	CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	7/11			chr18	TogoVar
CTNNA2_chr2_79508051_80653780	80043075	CTTTCTTT others(45): Show CTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTTTCTTTCTCCTT CCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	68	0.0147	-52	c.105 others(75): Show c.1056+133280_1056+133331delTTCTTTCTTTCTTTCTTTCTCT CTCTCTCTCTCTCTTTCTTTCTCCTTCCTT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80043079	CTTTCTTT others(45): Show CTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTTTCTTTCTCCTTCCTT CCT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03453.hp2 HG02572.hp1 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0002c0006t0001 a0001c0001t0001 a0002c0006t0001	a0001c0001t0001g0039 a0002c0006t0001g0040 a0001c0001t0001g0039 a0002c0006t0001g0040	2	68	0.0294	-52	c.105 others(75): Show c.1056+133284_1056+133335delTTCTTTCTTTCTTTCTCTCTCT CTCTCTCTCTTTCTTTCTCCTTCCTTCCTT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTSL_chr9_87721119_87736469	87732836	CATCTTTC others(45): Show CATCTTTCACATGATTCTGCCTGGACTTGGCTGTGTGGTTTTCACGTGGA GGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	388	0.0026	-52	c.17 others(63): Show c.1730_*1781delATCTTTCACATGATTCTGCCTGGACTTGGCTGTG TGGTTTTCACGTGGAGGT	CTSL	ENSG00000135047.16	transcript	ENST00000343150.10	protein_coding		1368		chr9	TogoVar
CTSS_chr1_150725188_150770778	150729033	GACCCCCC others(45): Show GACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCT GAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	344	0.0029	-52	c.39 others(63): Show c.3961_*4012delGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGG GAGGGAGGTGGGGGGGGT	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding		1154		chr1	TogoVar
CYP1A1_chr15_74714542_74730528	74714561	GTATATAT others(45): Show GTATATATTATATATGTGTATATATAATATATATTATATATGTGTATATA TAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00673.hp1 HG00673.hp2 others(6): Show HG00609.hp2 HG00673.hp1 HG00673.hp2 HG01975.hp2 NA18984.hp1 NA18994.hp2 NA19009.hp1 NA19065.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0021 a0002c0002 a0001c0021 a0002c0002	a0001c0021t0007 a0002c0002t0001 a0001c0021t0007 a0002c0002t0001	a0001c0021t0007g0028 a0002c0002t0001g0003 a0001c0021t0007g0028 a0002c0002t0001g0003	9	434	0.0207	-52	c.58 others(63): Show c.5876_*5927delTTATATATACACATATATAATATATATTATATAT ACACATATATAATATATA	CYP1A1	ENSG00000140465.15	transcript	ENST00000379727.8	protein_coding		4980		chr15	TogoVar
CYP2A7_chr19_40870439_40887231	40880763	CAGGACAG others(45): Show CAGGACAGGTGCAAACTCAGTCAGAGAAACACGAGGGAGAGAGAGAGAGA GAG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00735.hp1 HG00738.hp1 others(15): Show HG00423.hp2 HG00735.hp1 HG00738.hp1 HG01099.hp2 HG01175.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp2 HG01361.hp1 HG02135.hp2 HG02486.hp2 HG02647.hp1 HG02965.hp1 HG03492.hp2 HG03688.hp1 NA18989.hp2 NA19088.hp1 NA20129.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0008 a0030	a0001c0001 a0002c0003 a0002c0008 others(4): Show a0001c0001 a0002c0003 a0002c0008 a0002c0027 a0006c0010 a0008c0007 a0030c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0003t0001 a0002c0008t0001 a0002c0027t0001 a0006c0010t0001 a0008c0007t0003 a0030c0029t0001	a0001c0001t0001g0079 a0001c0001t0002g0018 a0001c0001t0002g0110 others(7): Show a0001c0001t0001g0079 a0001c0001t0002g0018 a0001c0001t0002g0110 a0001c0001t0005g0078 a0002c0003t0001g0076 a0002c0008t0001g0059 a0002c0027t0001g0058 a0006c0010t0001g0014 a0008c0007t0003g0077 a0030c0029t0001g0052	18	398	0.0452	-52	c.344 others(67): Show c.344-187_344-136delCTCTCTCTCTCTCTCTCCCTCGTGTTTCTC TGACTGAGTTTGCACCTGTCCT	CYP2A7	ENSG00000198077.11	transcript	ENST00000301146.9	protein_coding	2/8			chr19	TogoVar
CYTH1_chr17_78669048_78787273	78760380	TATATACA others(45): Show TATATACACACACATACATATATATATGTGTATATATATATATATACACA TAC	T T	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0040 a0001c0001t0011g0040	1	378	0.0027	-52	c.22+ others(69): Show c.22+21770_22+21821delGTATGTGTATATATATATATATACACAT ATATATATGTATGTGTGTGTATAT	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13			chr17	TogoVar
DAPL1_chr2_158790317_158820990	158791941	TTCTCTCT others(45): Show TTCTCTCTTTCTTTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTCT CTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG03130.hp1 HG02559.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0130 a0001c0001t0002g0131	2	360	0.0056	-52	c.-34 others(63): Show c.-3431_-3380delTCTCTCTTTCTTTCTTTCTCTCTTTCTTTCTTTC TTTCTTTCTTTCTCTCTC	DAPL1	ENSG00000163331.12	transcript	ENST00000309950.8	protein_coding		3375		chr2	TogoVar
DCC_chr18_52335197_53540899	52642031	TATATATA others(45): Show TATATATATATATATACTGTGGTGTGTGTGTGTATATATATATATATATA CAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00597.hp2 others(21): Show HG00099.hp1 HG00280.hp2 HG00597.hp2 HG00733.hp2 HG01106.hp1 HG01106.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01346.hp2 HG01433.hp2 HG02080.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02970.hp2 HG03669.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18966.hp1 NA19057.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0003 a0001c0008 others(7): Show a0001c0002 a0001c0003 a0001c0008 a0001c0023 a0002c0001 a0002c0004 a0002c0011 a0002c0012 a0002c0018 a0004c0009	a0001c0002t0005 a0001c0003t0001 a0001c0003t0004 others(18): Show a0001c0002t0005 a0001c0003t0001 a0001c0003t0004 a0001c0003t0012 a0001c0003t0030 a0001c0008t0023 a0001c0023t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 a0002c0001t0015 a0002c0001t0018 a0002c0001t0029 a0002c0004t0003 a0002c0004t0014 a0002c0004t0017 a0002c0011t0003 a0002c0012t0011 a0002c0018t0004 a0004c0009t0002 a0004c0009t0027	a0001c0002t0005g0028 a0001c0003t0001g0058 a0001c0003t0004g0092 others(21): Show a0001c0002t0005g0028 a0001c0003t0001g0058 a0001c0003t0004g0092 a0001c0003t0012g0082 a0001c0003t0012g0100 a0001c0003t0030g0020 a0001c0008t0023g0098 a0001c0023t0001g0106 a0002c0001t0001g0022 a0002c0001t0001g0079 a0002c0001t0002g0063 a0002c0001t0002g0081 a0002c0001t0005g0088 a0002c0001t0015g0064 a0002c0001t0018g0034 a0002c0001t0029g0040 a0002c0004t0003g0083 a0002c0004t0014g0043 a0002c0004t0017g0062 a0002c0011t0003g0090 a0002c0012t0011g0037 a0002c0018t0004g0071 a0004c0009t0002g0016 a0004c0009t0027g0084	24	114	0.2105	-52	c.92- others(71): Show c.92-110021_92-109970delTATATATATATATACTGTGGTGTGTG TGTGTATATATATATATATATACACA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DDR2_chr1_162627464_162792405	162760511	TATATATG others(45): Show TATATATGTATATACATATACAACTAGATATATGTATATACATATACAAC TAG	T T	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0187	1	302	0.0033	-52	c.855 others(67): Show c.855+591_856-590delGTATATACATATACAACTAGATATATGTAT ATACATATACAACTAGATATAT	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
DDX59_chr1_200639037_200674907	200672978	CAAAGTGC others(45): Show CAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTTTTTTT TTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	390	0.0026	-52	c.-32 others(63): Show c.-3275_-3224delAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGC CTGTAATCCCAGCACTTT	DDX59	ENSG00000118197.14	transcript	ENST00000331314.11	protein_coding		3072		chr1	TogoVar
DEAF1_chr11_639233_700222	697342	TGTTTAAC others(45): Show TGTTTAACTTCTGCCTGACACAGCTATTCGTAGCCACATTGTGATTATAG TAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0206 a0001c0002t0001g0206	1	345	0.0029	-52	c.-23 others(63): Show c.-2347_-2296delTTACTATAATCACAATGTGGCTACGAATAGCTGT GTCAGGCAGAAGTTAAAC	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding		2121		chr11	TogoVar
DEPDC1B_chr5_60591912_60705166	60667708	TAAAATGG others(45): Show TAAAATGGATATTTTACATATATATAAAAAATGGATATTTTACATATATA TAA	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG06807.hp1 NA21309.hp2 HG03710.hp2 HG06807.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0155 a0001c0001t0001g0169 a0001c0001t0001g0172	3	292	0.0103	-52	c.314 others(71): Show c.314+19202_314+19253delTTATATATATGTAAAATATCCATTTT TTATATATATGTAAAATATCCATTTT	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DGKB_chr7_14140049_14907751	14278194	TGAGTAAA others(45): Show TGAGTAAAAAGAACAAAACTGGGGCATCACATGCCCTGAGTTAAAAAATA TTA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02717.hp2 HG02818.hp2 others(1): Show HG01255.hp2 HG02717.hp2 HG02818.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0006 a0001c0002 a0001c0003 a0001c0006	a0001c0002t0009 a0001c0002t0038 a0001c0003t0001 others(1): Show a0001c0002t0009 a0001c0002t0038 a0001c0003t0001 a0001c0006t0019	a0001c0002t0009g0064 a0001c0002t0038g0093 a0001c0003t0001g0006 others(1): Show a0001c0002t0009g0064 a0001c0002t0038g0093 a0001c0003t0001g0006 a0001c0006t0019g0144	4	148	0.0270	-52	c.212 others(73): Show c.2122+60269_2122+60320delTAATATTTTTTAACTCAGGGCATG TGATGCCCCAGTTTTGTTCTTTTTACTC	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DHCR24_chr1_54844627_54892195	54868664	CATTAACA others(45): Show CATTAACAGTGATGGTTATGAAGGCAATGTAATAGTTCTAATAAAAGATG GAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp2 others(157): Show HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00544.hp2 HG00558.hp1 HG00621.hp2 HG00639.hp1 HG00741.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02273.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18975.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19065.hp1 NA19066.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0020 a0001c0001t0022 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0017 a0001c0008t0001 a0004c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(123): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0205 a0001c0001t0001g0275 a0001c0001t0003g0013 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0146 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0168 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0007g0020 a0001c0001t0007g0022 a0001c0001t0007g0065 a0001c0001t0007g0069 a0001c0001t0007g0072 a0001c0001t0007g0076 a0001c0001t0012g0099 a0001c0001t0013g0023 a0001c0001t0014g0082 a0001c0001t0016g0278 a0001c0001t0016g0285 a0001c0001t0020g0063 a0001c0001t0022g0147 a0001c0002t0002g0092 a0001c0002t0002g0111 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0179 a0001c0002t0002g0234 a0001c0002t0003g0136 a0001c0002t0004g0204 a0001c0002t0005g0151 a0001c0002t0006g0012 a0001c0002t0006g0048 a0001c0002t0006g0277 a0001c0002t0006g0279 a0001c0002t0006g0280 a0001c0002t0006g0283 a0001c0002t0006g0284 a0001c0002t0017g0281 a0001c0008t0001g0121 a0004c0007t0001g0117	160	386	0.4145	-52	c.876 others(69): Show c.876+2634_876+2685delATCCATCTTTTATTAGAACTATTACATT GCCTTCATAACCATCACTGTTAAT	DHCR24	ENSG00000116133.13	transcript	ENST00000371269.9	protein_coding	5/8			chr1	TogoVar
DHRS9_chr2_169064563_169101167	169079959	GAGAGAGA others(45): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAA GAA	G G	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0053 a0001c0002t0002g0053	1	398	0.0025	-52	c.-59 others(69): Show c.-59-1560_-59-1509delGAGAGAGAGAGAGAGAGAGAGAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGA	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRSX_chrX_2214506_2505976	2228377	GAGGAATG others(45): Show GAGGAATGAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGAA GGA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	50	0.0200	-52	c.805 others(69): Show c.805-7200_805-7149delTCCTTCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTTCATTCCT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2485749	GGGAAGGA others(45): Show GGGAAGGAAGGGAGAGAAGGAAGGAAGGGAGAAAAGGGAGAGAAGGGAGA GAA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0006 a0005c0008t0006	a0005c0008t0006g0001 a0005c0008t0006g0001	1	50	0.0200	-52	c.109 others(71): Show c.109+15016_109+15067delTTCTCTCCCTTCTCTCCCTTTTCTCC CTTCCTTCCTTCTCTCCCTTCCTTCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	1/6			chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96962272	TACATATA others(45): Show TACATATATATATACATATATATATATACATATATATATACATATATATA TAC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0143 a0001c0001t0012g0143	1	147	0.0068	-52	c.193 others(71): Show c.1936-2791_1936-2740delTATATATATACATATATATATACACA TATATATATACATATATATATATACA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	16/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIP2C_chr10_269201_694668	532634	AGAGAGAG others(45): Show AGAGAGAGTATGGGTGTGAGAGAGAGTATGGGTGTGAGAGAGAGTATGGG TGT	A A	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02040.hp1 HG02602.hp1 HG01258.hp1 HG02040.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0001 a0001c0001t0003 a0001c0020t0008 a0001c0001t0001 a0001c0001t0003 a0001c0020t0008	a0001c0001t0001g0026 a0001c0001t0003g0012 a0001c0020t0008g0074 a0001c0001t0001g0026 a0001c0001t0003g0012 a0001c0020t0008g0074	3	88	0.0341	-52	c.86- others(69): Show c.86-46156_86-46105delACACCCATACTCTCTCTCACACCCATAC TCTCTCTCACACCCATACTCTCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	671427	CGTCACAG others(45): Show CGTCACAGACGCACGGACGGAGGAAACAGACCACAGGCGCACGGACGGAG GAA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	88	0.0114	-52	c.85+ others(69): Show c.85+18015_85+18066delTTCCTCCGTCCGTGCGCCTGTGGTCTGT TTCCTCCGTCCGTGCGTCTGTGAC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIPK2A_chr3_143966823_143997368	143978608	ATATATAT others(45): Show ATATATATCTATATCTATATATATATATATATCTATATATATATATATAT ATC	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG03225.hp2 others(1): Show HG01070.hp1 HG01071.hp2 HG03225.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0007 a0001c0001t0009	a0001c0001t0007g0254 a0001c0001t0007g0255 a0001c0001t0007g0256 others(1): Show a0001c0001t0007g0254 a0001c0001t0007g0255 a0001c0001t0007g0256 a0001c0001t0009g0232	4	408	0.0098	-52	c.657 others(69): Show c.657+5627_657+5678delCTATATCTATATATATATATATATCTAT ATATATATATATATATCTATATAT	DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DIPK2A_chr3_143966823_143997368	143978622	CTATATAT others(45): Show CTATATATATATATATATCTATATATATATATATATATCTATATATAGAT ATA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02083.hp1 HG02630.hp2 others(13): Show HG00642.hp1 HG02083.hp1 HG02630.hp2 HG02895.hp2 HG02897.hp2 HG03688.hp1 HG03831.hp1 NA18747.hp1 NA18951.hp1 NA18965.hp2 NA18975.hp2 NA18998.hp1 NA19006.hp2 NA19010.hp2 NA19066.hp1 NA19087.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0011 a0001c0001 a0001c0003 a0003c0011	a0001c0001t0003 a0001c0001t0017 a0001c0003t0003 others(2): Show a0001c0001t0003 a0001c0001t0017 a0001c0003t0003 a0001c0003t0022 a0003c0011t0002	a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0096 others(12): Show a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0096 a0001c0001t0017g0233 a0001c0001t0017g0259 a0001c0003t0003g0025 a0001c0003t0003g0027 a0001c0003t0003g0061 a0001c0003t0003g0062 a0001c0003t0003g0071 a0001c0003t0003g0078 a0001c0003t0003g0079 a0001c0003t0003g0099 a0001c0003t0022g0025 a0003c0011t0002g0199	16	408	0.0392	-52	c.657 others(69): Show c.657+5641_657+5692delATATATATATCTATATATATATATATAT ATCTATATATAGATATATATATAT	DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DIPK2A_chr3_143966823_143997368	143978630	ATATATAT others(45): Show ATATATATATCTATATATATATATATATATCTATATATAGATATATATAT ATC	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0098 a0001c0003t0003g0098	1	408	0.0025	-52	c.657 others(69): Show c.657+5651_657+5702delCTATATATATATATATATATCTATATAT AGATATATATATATCTATATATAT	DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DISC1_chr1_231621790_232046272	231805568	ATGGTGCT others(45): Show ATGGTGCTAAATCATTAATGAGAAACTGCCCCTATGATCCAATCACCTTC CAC	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0015 a0001c0001t0008g0015	1	40	0.0250	-52	c.179 others(71): Show c.1792+5463_1792+5514delTGGTGCTAAATCATTAATGAGAAACT GCCCCTATGATCCAATCACCTTCCAC	DISC1	ENSG00000162946.24	transcript	ENST00000439617.8	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP3_chr1_11474155_11542551	11524928	TCTGTGCC others(45): Show TCTGTGCCCACTATCTCCCTCACCACCTCCCCCACCATCCCTGCCACCCC ATC	T T	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0157 a0002c0002t0002g0157	1	358	0.0028	-52	c.247 others(69): Show c.2477-237_2477-186delTATCTCCCTCACCACCTCCCCCACCATC CCTGCCACCCCATCCTGTGCCCAC	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DLC1_chr8_13078361_13519851	13506024	TGTCCTTT others(45): Show TGTCCTTTGAGAATACATGTGATACATATATGTGTGTGTGTATATATAAA GCA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01109.hp1 HG01256.hp1 others(3): Show HG01071.hp1 HG01109.hp1 HG01256.hp1 HG02683.hp1 HG03486.hp1 HG03579.hp2	a0006 a0010 a0014 a0006 a0010 a0014	a0006c0007 a0006c0032 a0010c0022 others(2): Show a0006c0007 a0006c0032 a0010c0022 a0010c0048 a0014c0047	a0006c0007t0005 a0006c0032t0005 a0010c0022t0004 others(3): Show a0006c0007t0005 a0006c0032t0005 a0010c0022t0004 a0010c0022t0025 a0010c0048t0007 a0014c0047t0006	a0006c0007t0005g0158 a0006c0032t0005g0159 a0010c0022t0004g0187 others(3): Show a0006c0007t0005g0158 a0006c0032t0005g0159 a0010c0022t0004g0187 a0010c0022t0025g0186 a0010c0048t0007g0185 a0014c0047t0006g0161	6	212	0.0283	-52	c.-12 others(71): Show c.-125-5880_-125-5829delTGCTTTATATATACACACACACATAT ATGTATCACATGTATTCTCAAAGGAC	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	1/17			chr8	TogoVar
DLGAP1_chr18_3491032_4460307	3772342	CTCTCTCT others(45): Show CTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03453.hp1 HG02486.hp2 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0002 a0001c0006t0013 a0001c0004t0002 a0001c0006t0013	a0001c0004t0002g0035 a0001c0006t0013g0073 a0001c0004t0002g0035 a0001c0006t0013g0073	2	80	0.0250	-52	c.117 others(73): Show c.1173-29882_1173-29831delAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAGAGA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	5/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3833130	ATTCCTTC others(45): Show ATTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01981.hp1 HG02155.hp1 others(5): Show HG01496.hp1 HG01981.hp1 HG02155.hp1 HG02258.hp1 HG02258.hp2 HG02572.hp2 HG03669.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0005 a0001c0001t0009 a0001c0002t0029 others(5): Show a0001c0001t0005 a0001c0001t0009 a0001c0002t0029 a0001c0002t0030 a0001c0003t0002 a0001c0003t0011 a0001c0003t0028 a0001c0005t0017	a0001c0001t0005g0042 a0001c0001t0009g0020 a0001c0002t0029g0032 others(5): Show a0001c0001t0005g0042 a0001c0001t0009g0020 a0001c0002t0029g0032 a0001c0002t0030g0014 a0001c0003t0002g0009 a0001c0003t0011g0010 a0001c0003t0028g0036 a0001c0005t0017g0021	8	80	0.1000	-52	c.958 others(71): Show c.958-18909_958-18858delGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	4/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	882241	TCTGCGGA others(45): Show TCTGCGGAGGCCTCTCCTGCGGGCACCCGTGCCTGGCCCAGCGGCACCTC TCC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0016 a0004c0008t0016	a0004c0008t0016g0029 a0004c0008t0016g0029	1	40	0.0250	-52	c.19- others(69): Show c.19-25623_19-25572delTCTCCCTGCGGAGGCCTCTCCTGCGGGC ACCCGTGCCTGGCCCAGCGGCACC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	882337	CACCGCTC others(45): Show CACCGCTCCCTGCGGAGGCCTCCCCTGCGCGCACCCTCGCCTGATCCAGC GGT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp2 HG01361.hp2 others(8): Show HG00639.hp2 HG01071.hp2 HG01361.hp2 HG01496.hp1 HG02074.hp1 HG02258.hp2 HG02698.hp2 HG02818.hp1 NA18906.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0010 others(2): Show a0001c0002 a0001c0003 a0001c0010 a0002c0001 a0002c0004	a0001c0002t0006 a0001c0002t0022 a0001c0002t0023 others(8): Show a0001c0002t0006 a0001c0002t0022 a0001c0002t0023 a0001c0002t0027 a0001c0003t0006 a0001c0003t0013 a0001c0010t0025 a0002c0001t0011 a0002c0001t0020 a0002c0004t0003 a0002c0004t0018	a0001c0002t0006g0011 a0001c0002t0022g0034 a0001c0002t0023g0005 others(8): Show a0001c0002t0006g0011 a0001c0002t0022g0034 a0001c0002t0023g0005 a0001c0002t0027g0023 a0001c0003t0006g0033 a0001c0003t0013g0007 a0001c0010t0025g0012 a0002c0001t0011g0001 a0002c0001t0020g0024 a0002c0004t0003g0009 a0002c0004t0018g0010	11	40	0.2750	-52	c.19- others(69): Show c.19-25571_19-25520delGCTCCCTGCGGAGGCCTCCCCTGCGCGC ACCCTCGCCTGATCCAGCGGTACC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	882470	GGCACCCT others(45): Show GGCACCCTCGCCTGATCCAGCGGTACCTCTCCCTGCGGAGGCCTCCCCTG CGC	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp2 HG02895.hp2 others(1): Show HG02647.hp1 HG02647.hp2 HG02895.hp2 HG02922.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0001 a0002c0007 others(1): Show a0001c0003 a0002c0001 a0002c0007 a0003c0005	a0001c0003t0017 a0002c0001t0002 a0002c0007t0008 others(1): Show a0001c0003t0017 a0002c0001t0002 a0002c0007t0008 a0003c0005t0002	a0001c0003t0017g0004 a0002c0001t0002g0013 a0002c0007t0008g0040 others(1): Show a0001c0003t0017g0004 a0002c0001t0002g0013 a0002c0007t0008g0040 a0003c0005t0002g0031	4	40	0.1000	-52	c.19- others(69): Show c.19-25241_19-25190delCCCTGCGCGCACCCTCGCCTGATCCAGC GGTACCTCTCCCTGCGGAGGCCTC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	965356	TGAGTCTG others(45): Show TGAGTCTGACCCCTGCGCTGTACACGGCACTGTTCATCACACACGCGGCT CCA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02258.hp2 HG01496.hp1 HG02258.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0006 a0002c0004t0003 a0001c0003t0006 a0002c0004t0003	a0001c0003t0006g0033 a0002c0004t0003g0009 a0001c0003t0006g0033 a0002c0004t0003g0009	2	40	0.0500	-52	c.73+ others(69): Show c.73+57394_73+57445delTCTGACCCCTGCGCTGTACACGGCACTG TTCATCACACACGCGGCTCCAGAG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1000015	CAGATCCG others(45): Show CAGATCCGGGTGGAGGTGGTTTTCTTTTGCACTGGATTTTCTCTAGAGCA GAG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02818.hp1 NA20300.hp2 HG00639.hp1 HG02818.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0027 a0001c0002t0001 a0001c0002t0006 a0001c0002t0027	a0001c0002t0001g0019 a0001c0002t0006g0011 a0001c0002t0027g0023 a0001c0002t0001g0019 a0001c0002t0006g0011 a0001c0002t0027g0023	3	40	0.0750	-52	c.73+ others(69): Show c.73+92101_73+92152delGAGATCCGGGTGGAGGTGGTTTTCTTTT GCACTGGATTTTCTCTAGAGCAGA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1000168	AGACAGAT others(45): Show AGACAGATCCGGGTGGAGGTGGTTTTCTTTTGCACTGGATTTTCTCTAGA GCG	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02258.hp2 HG03516.hp2 HG01071.hp2 HG02258.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0001c0003t0006 a0002c0001t0011 a0001c0003t0001 a0001c0003t0006 a0002c0001t0011	a0001c0003t0001g0026 a0001c0003t0006g0033 a0002c0001t0011g0001 a0001c0003t0001g0026 a0001c0003t0006g0033 a0002c0001t0011g0001	3	40	0.0750	-52	c.73+ others(69): Show c.73+92212_73+92263delGGGTGGAGGTGGTTTTCTTTTGCACTGG ATTTTCTCTAGAGCGGACAGATCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1042803	GTGTGGGT others(45): Show GTGTGGGTGGTGGATGTGGGTGGTGGGTGTGGGTGGTGGGTGTGGGTGGT GGA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02698.hp2 HG02818.hp1 HG01496.hp1 HG02698.hp2 HG02818.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0027 a0002c0004t0003 a0002c0004t0018 a0001c0002t0027 a0002c0004t0003 a0002c0004t0018	a0001c0002t0027g0023 a0002c0004t0003g0009 a0002c0004t0018g0010 a0001c0002t0027g0023 a0002c0004t0003g0009 a0002c0004t0018g0010	3	40	0.0750	-52	c.73+ others(71): Show c.73+134850_73+134901delATGTGGGTGGTGGGTGTGGGTGGTGG GTGTGGGTGGTGGATGTGGGTGGTGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1089044	CATTCTTG others(45): Show CATTCTTGCTCCCCGGCCTCACTCTCTCCACCCCTCGTCCAGCAGGCTAT GCA	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0011	1	40	0.0250	-52	c.74- others(71): Show c.74-169771_74-169720delGTCCAGCAGGCTATGCAATTCTTGCT CCCCGGCCTCACTCTCTCCACCCCTC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1628354	GATTAAGA others(45): Show GATTAAGAGCTTGAGCCAACCTCACATTCTCTCTGACTTACTGTGGAGCA GGA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0013 a0002c0001t0002g0013	1	40	0.0250	-52	c.159 others(71): Show c.1590+1484_1590+1535delAACCTCACATTCTCTCTGACTTACTG TGGAGCAGGAATTAAGAGCTTGAGCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr8	TogoVar

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