Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
AARD_chr8_116933207_116949487	116938485	AGGCGGC AGGCGGC	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02257.hp1 HG02647.hp1 HG02809.hp1 others(1): Show HG02257.hp1 HG02647.hp1 HG02809.hp1 HG03041.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0007 a0005c0005t0007	a0005c0005t0007g0007 a0005c0005t0007g0007	4	442	0.0091	-6	c.259 others(13): Show c.259_264delGCGGCG	p.Ala others(11): Show p.Ala87_Ala88del	AARD	ENSG00000205002.4	transcript	ENST00000378279.4	protein_coding	1/2	296/2291	259/468	87/155	INFO_REALIGN_3_PRIME	chr8	TogoVar
AASDH_chr4_56333290_56392491	56378269	GTTC GTTC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show HG01884.hp1 HG02145.hp1 HG02630.hp1 HG03041.hp1 HG03139.hp1 HG03225.hp1 HG03453.hp1 NA19043.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0003 a0005c0007t0003	a0005c0007t0003g0033 a0005c0007t0003g0034 a0005c0007t0003g0035 others(5): Show a0005c0007t0003g0033 a0005c0007t0003g0034 a0005c0007t0003g0035 a0005c0007t0003g0036 a0005c0007t0003g0037 a0005c0007t0003g0038 a0005c0007t0003g0039 a0005c0007t0003g0040	8	382	0.0209	-3	c.544 others(10): Show c.544_546delGAA	p.Glu others(6): Show p.Glu182del	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	4/15	718/3581	544/3297	182/1098		chr4	TogoVar
ACAN_chr15_88798436_88880353	88855507	TGGGCTTC others(50): Show TGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGG ACATCAGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00544.hp2 HG01081.hp1 HG01192.hp1 others(28): Show HG00544.hp2 HG01081.hp1 HG01192.hp1 HG01496.hp2 HG01952.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02523.hp2 HG03490.hp1 NA18942.hp2 NA18946.hp1 NA18953.hp1 NA18971.hp1 NA18971.hp2 NA18979.hp2 NA18981.hp1 NA19005.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp2 NA19065.hp1 NA19066.hp2 NA19079.hp1 NA19081.hp1 NA19091.hp2	a0003 a0031 a0044 others(6): Show a0003 a0031 a0044 a0096 a0122 a0123 a0124 a0127 a0128	a0003c0003 a0003c0011 a0003c0138 others(10): Show a0003c0003 a0003c0011 a0003c0138 a0031c0030 a0031c0090 a0044c0105 a0044c0106 a0096c0103 a0122c0170 a0123c0088 a0124c0089 a0127c0092 a0128c0091	a0003c0003t0001 a0003c0011t0001 a0003c0138t0001 others(10): Show a0003c0003t0001 a0003c0011t0001 a0003c0138t0001 a0031c0030t0001 a0031c0090t0001 a0044c0105t0001 a0044c0106t0001 a0096c0103t0001 a0122c0170t0001 a0123c0088t0001 a0124c0089t0001 a0127c0092t0001 a0128c0091t0001	a0003c0003t0001g0031 a0003c0003t0001g0033 a0003c0003t0001g0037 others(28): Show a0003c0003t0001g0031 a0003c0003t0001g0033 a0003c0003t0001g0037 a0003c0003t0001g0049 a0003c0003t0001g0056 a0003c0003t0001g0065 a0003c0003t0001g0079 a0003c0003t0001g0137 a0003c0003t0001g0169 a0003c0003t0001g0183 a0003c0003t0001g0242 a0003c0003t0001g0271 a0003c0003t0001g0272 a0003c0011t0001g0077 a0003c0011t0001g0078 a0003c0011t0001g0096 a0003c0011t0001g0100 a0003c0011t0001g0102 a0003c0011t0001g0305 a0003c0138t0001g0175 a0031c0030t0001g0337 a0031c0030t0001g0338 a0031c0090t0001g0179 a0044c0105t0001g0141 a0044c0106t0001g0189 a0096c0103t0001g0075 a0122c0170t0001g0256 a0123c0088t0001g0104 a0124c0089t0001g0061 a0127c0092t0001g0321 a0128c0091t0001g0074	31	368	0.0842	-57	c.323 others(66): Show c.3238_3294delACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCT TCTGGAGAAGTTCTAGAGACC	p.Thr others(15): Show p.Thr1080_Thr1098del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3619/8960	3238/7707	1080/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88855507	TGGGCTTC others(107): Show TGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGG ACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGA GTAGAGGACATCAGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00408.hp1 HG00544.hp1 HG00609.hp1 others(18): Show HG00408.hp1 HG00544.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG00735.hp1 HG01928.hp1 HG01975.hp1 HG01993.hp2 HG02040.hp2 HG02258.hp1 NA18612.hp2 NA18747.hp1 NA18961.hp2 NA18963.hp1 NA18969.hp2 NA18980.hp1 NA18983.hp2 NA18986.hp2 NA19065.hp2 NA19088.hp1	a0007 a0012 a0045 others(5): Show a0007 a0012 a0045 a0091 a0092 a0094 a0095 a0144	a0007c0006 a0012c0048 a0012c0050 others(7): Show a0007c0006 a0012c0048 a0012c0050 a0012c0136 a0045c0049 a0091c0164 a0092c0104 a0094c0161 a0095c0162 a0144c0193	a0007c0006t0001 a0012c0048t0001 a0012c0050t0001 others(7): Show a0007c0006t0001 a0012c0048t0001 a0012c0050t0001 a0012c0136t0001 a0045c0049t0001 a0091c0164t0001 a0092c0104t0001 a0094c0161t0001 a0095c0162t0001 a0144c0193t0001	a0007c0006t0001g0021 a0007c0006t0001g0127 a0007c0006t0001g0135 others(18): Show a0007c0006t0001g0021 a0007c0006t0001g0127 a0007c0006t0001g0135 a0007c0006t0001g0143 a0007c0006t0001g0178 a0007c0006t0001g0200 a0007c0006t0001g0234 a0007c0006t0001g0333 a0007c0006t0001g0335 a0012c0048t0001g0072 a0012c0048t0001g0172 a0012c0050t0001g0126 a0012c0050t0001g0336 a0012c0136t0001g0099 a0045c0049t0001g0052 a0045c0049t0001g0053 a0091c0164t0001g0029 a0092c0104t0001g0293 a0094c0161t0001g0040 a0095c0162t0001g0039 a0144c0193t0001g0038	21	368	0.0571	-114	c.318 others(9): Show c.3181_3294del	p.Thr others(15): Show p.Thr1061_Thr1098del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3562/8960	3181/7707	1061/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88855652	ACTGCCCC others(449): Show ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAG AAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCT TCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGG GCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACA TCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTA GAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCC TGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCG CTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTA GAGACCG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02145.hp2 HG02559.hp1 HG02976.hp2 others(1): Show HG02145.hp2 HG02559.hp1 HG02976.hp2 HG03225.hp2	a0025 a0089 a0025 a0089	a0025c0053 a0025c0107 a0089c0179 a0025c0053 a0025c0107 a0089c0179	a0025c0053t0002 a0025c0107t0015 a0089c0179t0011 a0025c0053t0002 a0025c0107t0015 a0089c0179t0011	a0025c0053t0002g0006 a0025c0053t0002g0164 a0025c0107t0015g0277 others(1): Show a0025c0053t0002g0006 a0025c0053t0002g0164 a0025c0107t0015g0277 a0089c0179t0011g0162	4	368	0.0109	-456	c.312 others(9): Show c.3124_3579del	p.Thr others(15): Show p.Thr1042_Thr1193del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3505/8960	3124/7707	1042/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88855709	ACTGCCCC others(449): Show ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAG AAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCT TCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGG GCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACA TCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTA GAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCC TGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCG CTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTA GAGACCG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01361.hp2 HG01361.hp2	a0081 a0081	a0081c0118 a0081c0118	a0081c0118t0001 a0081c0118t0001	a0081c0118t0001g0274 a0081c0118t0001g0274	1	368	0.0027	-456	c.318 others(9): Show c.3181_3636del	p.Thr others(15): Show p.Thr1061_Thr1212del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3562/8960	3181/7707	1061/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88855766	ACTGCCCC others(392): Show ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAG AAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCT TCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGG GCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACA TCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTA GAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCC TGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02886.hp2 HG02895.hp2 NA18906.hp2 HG02886.hp2 HG02895.hp2 NA18906.hp2	a0051 a0084 a0051 a0084	a0051c0027 a0084c0111 a0051c0027 a0084c0111	a0051c0027t0001 a0051c0027t0009 a0084c0111t0001 a0051c0027t0001 a0051c0027t0009 a0084c0111t0001	a0051c0027t0001g0010 a0051c0027t0009g0159 a0084c0111t0001g0019 a0051c0027t0001g0010 a0051c0027t0009g0159 a0084c0111t0001g0019	3	368	0.0082	-399	c.323 others(9): Show c.3238_3636del	p.Thr others(15): Show p.Thr1080_Thr1212del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3619/8960	3238/7707	1080/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88856221	CGCTGCCC others(50): Show CGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTC TAGAGACT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02145.hp2 HG02559.hp1 HG02572.hp2 others(5): Show HG02145.hp2 HG02559.hp1 HG02572.hp2 HG02647.hp2 HG02976.hp2 HG03041.hp2 HG03225.hp2 NA18942.hp1	a0014 a0025 a0026 others(1): Show a0014 a0025 a0026 a0089	a0014c0153 a0025c0053 a0025c0107 others(3): Show a0014c0153 a0025c0053 a0025c0107 a0026c0043 a0026c0145 a0089c0179	a0014c0153t0001 a0025c0053t0002 a0025c0107t0015 others(4): Show a0014c0153t0001 a0025c0053t0002 a0025c0107t0015 a0026c0043t0001 a0026c0043t0008 a0026c0145t0001 a0089c0179t0011	a0014c0153t0001g0026 a0025c0053t0002g0006 a0025c0053t0002g0164 others(5): Show a0014c0153t0001g0026 a0025c0053t0002g0006 a0025c0053t0002g0164 a0025c0107t0015g0277 a0026c0043t0001g0347 a0026c0043t0008g0294 a0026c0145t0001g0231 a0089c0179t0011g0162	8	368	0.0217	-57	c.415 others(66): Show c.4150_4206delGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCT TCTGGAGAAGTTCTAGAGACT	p.Ala others(15): Show p.Ala1384_Thr1402del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	4531/8960	4150/7707	1384/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88856221	CGCTGCCC others(107): Show CGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTC TAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGA GAAGTTCTAGAGACT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00609.hp2 NA18963.hp2 NA18982.hp2 others(2): Show HG00609.hp2 NA18963.hp2 NA18982.hp2 NA19068.hp2 NA19088.hp2	a0048 a0059 a0133 others(1): Show a0048 a0059 a0133 a0134	a0048c0046 a0059c0077 a0133c0079 others(1): Show a0048c0046 a0059c0077 a0133c0079 a0134c0080	a0048c0046t0001 a0059c0077t0001 a0133c0079t0001 others(1): Show a0048c0046t0001 a0059c0077t0001 a0133c0079t0001 a0134c0080t0001	a0048c0046t0001g0032 a0048c0046t0001g0110 a0059c0077t0001g0362 others(2): Show a0048c0046t0001g0032 a0048c0046t0001g0110 a0059c0077t0001g0362 a0133c0079t0001g0212 a0134c0080t0001g0115	5	368	0.0136	-114	c.409 others(9): Show c.4093_4206del	p.Ala others(15): Show p.Ala1365_Thr1402del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	4474/8960	4093/7707	1365/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88856221	CGCTGCCC others(164): Show CGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTC TAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGA GAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCC TTCTGGAGAAGTTCTAGAGACT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02135.hp2 HG02135.hp2	a0107 a0107	a0107c0152 a0107c0152	a0107c0152t0001 a0107c0152t0001	a0107c0152t0001g0185 a0107c0152t0001g0185	1	368	0.0027	-171	c.403 others(9): Show c.4036_4206del	p.Ala others(15): Show p.Ala1346_Thr1402del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	4417/8960	4036/7707	1346/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88856221	CGCTGCCC others(278): Show CGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTC TAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGA GAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCC TTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCG GGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGAC ATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02056.hp2 HG02056.hp2	a0108 a0108	a0108c0151 a0108c0151	a0108c0151t0001 a0108c0151t0001	a0108c0151t0001g0051 a0108c0151t0001g0051	1	368	0.0027	-285	c.392 others(9): Show c.3922_4206del	p.Ala others(15): Show p.Ala1308_Thr1402del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	4303/8960	3922/7707	1308/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88856755	CATCAGCG others(164): Show CATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAG TAGAGGAGATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCC CCTGGAGTAGATGAGATCAGTGGGCTTCCTTCTGGAGAAGTTCTAGAGAC TACTGCCCCTGGAGTAGAGGAG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG04204.hp1 HG04204.hp1	a0083 a0083	a0083c0117 a0083c0117	a0083c0117t0001 a0083c0117t0001	a0083c0117t0001g0238 a0083c0117t0001g0238	1	368	0.0027	-171	c.420 others(9): Show c.4207_4377del	p.Thr others(15): Show p.Thr1403_Thr1459del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	4588/8960	4207/7707	1403/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACOXL_chr2_110727573_111123548	110995965	GGTTCTTC others(47): Show GGTTCTTCAGCGGGGTTTGGTGGCCAGAATTTATTATAAGGTAAAGATAC ACTGT	G G	splice_donor_variant others(3): Show splice_donor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG01243.hp2 HG01891.hp1 HG02109.hp1 others(8): Show HG01243.hp2 HG01891.hp1 HG02109.hp1 HG02145.hp2 HG02451.hp1 HG02886.hp1 HG02897.hp1 HG03225.hp2 HG06807.hp1 NA19043.hp1 NA21309.hp2	a0000 a0004 a0008 a0000 a0004 a0008	a0000c0013 a0004c0005 a0008c0008 a0000c0013 a0004c0005 a0008c0008	a0000c0013t0001 a0004c0005t0001 a0004c0005t0002 others(2): Show a0000c0013t0001 a0004c0005t0001 a0004c0005t0002 a0004c0005t0007 a0008c0008t0001	a0000c0013t0001g0046 a0004c0005t0001g0070 a0004c0005t0001g0134 others(8): Show a0000c0013t0001g0046 a0004c0005t0001g0070 a0004c0005t0001g0134 a0004c0005t0002g0004 a0004c0005t0002g0020 a0004c0005t0002g0022 a0004c0005t0002g0124 a0004c0005t0002g0127 a0004c0005t0007g0133 a0008c0008t0001g0015 a0008c0008t0001g0016	11	150	0.0733	-54	c.124 others(66): Show c.1246_1281+18delCTTCAGCGGGGTTTGGTGGCCAGAATTTATTAT AAGGTAAAGATACACTGTGTT	p.Leu others(13): Show p.Leu416_Lys427del	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	14/18	1470/2699	1246/1743	416/580	INFO_REALIGN_3_PRIME	chr2	TogoVar
ACP4_chr19_50785415_50800219	50790456	CCTG CCTG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01884.hp1 HG02647.hp1 HG02809.hp2 HG01884.hp1 HG02647.hp1 HG02809.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0023 a0004c0006t0001g0049 a0004c0006t0001g0023 a0004c0006t0001g0049	3	380	0.0079	-3	c.58_ others(8): Show c.58_60delCTG	p.Leu others(5): Show p.Leu20del	ACP4	ENSG00000142513.6	transcript	ENST00000270593.2	protein_coding	1/11	58/1342	58/1281	20/426	INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTRT2_chr1_3016467_3027903	3021843	CAGA CAGA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00140.hp1 HG00408.hp2 HG00423.hp1 others(56): Show HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp1 HG00733.hp1 HG01070.hp1 HG01081.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01256.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02083.hp2 HG02129.hp2 HG02273.hp2 HG02486.hp1 HG02523.hp2 HG03239.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18947.hp2 NA18949.hp2 NA18951.hp2 NA18959.hp1 NA18964.hp1 NA18973.hp2 NA18975.hp1 NA18983.hp1 NA18991.hp2 NA18995.hp1 NA19009.hp2 NA19010.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19085.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005	a0002c0002t0001g0000 a0002c0002t0003g0000 a0002c0002t0005g0000 a0002c0002t0001g0000 a0002c0002t0003g0000 a0002c0002t0005g0000	59	366	0.1612	-3	c.163 others(10): Show c.163_165delAAG	p.Lys others(5): Show p.Lys55del	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding	1/1	383/1437	163/1134	55/377	INFO_REALIGN_3_PRIME	chr1	TogoVar
ADAMTS7_chr15_78754206_78816464	78766598	GCGC GCGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01109.hp1 HG01167.hp2 HG01169.hp1 others(43): Show HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp2 HG01891.hp2 HG01943.hp1 HG02015.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA18990.hp1 NA18992.hp1 NA18994.hp2 NA19004.hp2 NA19009.hp1 NA19043.hp1 NA19066.hp1 NA19080.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2	a0004 a0009 a0019 others(3): Show a0004 a0009 a0019 a0034 a0042 a0069	a0004c0004 a0004c0018 a0004c0050 others(6): Show a0004c0004 a0004c0018 a0004c0050 a0004c0084 a0009c0009 a0019c0024 a0034c0035 a0042c0117 a0069c0056	a0004c0004t0001 a0004c0004t0003 a0004c0004t0004 others(8): Show a0004c0004t0001 a0004c0004t0003 a0004c0004t0004 a0004c0018t0001 a0004c0050t0001 a0004c0084t0001 a0009c0009t0001 a0019c0024t0001 a0034c0035t0007 a0042c0117t0001 a0069c0056t0003	a0004c0004t0001g0317 a0004c0004t0001g0318 a0004c0004t0001g0320 others(40): Show a0004c0004t0001g0317 a0004c0004t0001g0318 a0004c0004t0001g0320 a0004c0004t0001g0322 a0004c0004t0001g0323 a0004c0004t0001g0324 a0004c0004t0001g0342 a0004c0004t0003g0333 a0004c0004t0004g0019 a0004c0004t0004g0326 a0004c0004t0004g0327 a0004c0004t0004g0328 a0004c0004t0004g0329 a0004c0004t0004g0330 a0004c0004t0004g0331 a0004c0004t0004g0332 a0004c0004t0004g0334 a0004c0004t0004g0335 a0004c0004t0004g0336 a0004c0004t0004g0339 a0004c0004t0004g0343 a0004c0018t0001g0196 a0004c0018t0001g0350 a0004c0018t0001g0351 a0004c0018t0001g0352 a0004c0050t0001g0233 a0004c0084t0001g0319 a0009c0009t0001g0016 a0009c0009t0001g0026 a0009c0009t0001g0037 a0009c0009t0001g0038 a0009c0009t0001g0039 a0009c0009t0001g0264 a0009c0009t0001g0283 a0009c0009t0001g0284 a0009c0009t0001g0286 a0009c0009t0001g0304 a0019c0024t0001g0017 a0019c0024t0001g0247 a0034c0035t0007g0356 a0034c0035t0007g0357 a0042c0117t0001g0166 a0069c0056t0003g0184	46	380	0.1211	-3	c.331 others(12): Show c.3310_3312delGCG	p.Ala others(7): Show p.Ala1104del	ADAMTS7	ENSG00000136378.15	transcript	ENST00000388820.5	protein_coding	19/24	3556/5520	3310/5061	1104/1686		chr15	TogoVar
ADGRG4_chrX_136295963_136421890	136392285	AGAT AGAT	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(178): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18975.hp1 NA18977.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0004 others(23): Show a0001 a0002 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0018 a0019 a0020 a0021 a0024 a0025 a0026 a0027 a0029 a0030 a0031 a0032 a0033	a0001c0001 a0001c0010 a0001c0034 others(29): Show a0001c0001 a0001c0010 a0001c0034 a0001c0042 a0002c0002 a0002c0012 a0004c0004 a0004c0015 a0004c0020 a0005c0005 a0006c0006 a0007c0007 a0009c0011 a0010c0017 a0011c0033 a0012c0032 a0013c0031 a0014c0014 a0015c0024 a0018c0029 a0019c0026 a0020c0022 a0021c0016 a0024c0018 a0025c0013 a0026c0041 a0027c0038 a0029c0036 a0030c0037 a0031c0039 a0032c0040 a0033c0043	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0010t0001 a0001c0034t0001 a0001c0042t0001 a0002c0002t0001 a0002c0012t0001 a0004c0004t0001 a0004c0015t0001 a0004c0020t0001 a0005c0005t0001 a0006c0006t0001 a0007c0007t0001 a0009c0011t0001 a0010c0017t0001 a0011c0033t0001 a0012c0032t0001 a0013c0031t0004 a0014c0014t0001 a0015c0024t0001 a0018c0029t0001 a0019c0026t0001 a0020c0022t0001 a0021c0016t0001 a0024c0018t0001 a0025c0013t0001 a0026c0041t0001 a0027c0038t0003 a0029c0036t0001 a0030c0037t0001 a0031c0039t0001 a0032c0040t0001 a0033c0043t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 others(177): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0096 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0002g0002 a0001c0001t0002g0222 a0001c0001t0003g0196 a0001c0001t0005g0194 a0001c0010t0001g0145 a0001c0010t0001g0168 a0001c0034t0001g0213 a0001c0042t0001g0223 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0025 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0081 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0112 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0137 a0002c0002t0001g0159 a0002c0002t0001g0161 a0002c0002t0001g0164 a0002c0002t0001g0202 a0002c0002t0001g0227 a0002c0012t0001g0138 a0004c0004t0001g0026 a0004c0004t0001g0082 a0004c0004t0001g0105 a0004c0004t0001g0111 a0004c0004t0001g0113 a0004c0004t0001g0136 a0004c0015t0001g0180 a0004c0020t0001g0128 a0005c0005t0001g0006 a0005c0005t0001g0007 a0005c0005t0001g0008 a0005c0005t0001g0009 a0005c0005t0001g0010 a0005c0005t0001g0011 a0006c0006t0001g0114 a0006c0006t0001g0150 a0006c0006t0001g0151 a0006c0006t0001g0167 a0006c0006t0001g0171 a0007c0007t0001g0030 a0007c0007t0001g0070 a0007c0007t0001g0103 a0009c0011t0001g0216 a0010c0017t0001g0043 a0011c0033t0001g0003 a0012c0032t0001g0018 a0013c0031t0004g0077 a0014c0014t0001g0005 a0015c0024t0001g0054 a0018c0029t0001g0033 a0019c0026t0001g0117 a0020c0022t0001g0187 a0021c0016t0001g0012 a0024c0018t0001g0031 a0025c0013t0001g0104 a0026c0041t0001g0146 a0027c0038t0003g0142 a0029c0036t0001g0184 a0030c0037t0001g0163 a0031c0039t0001g0141 a0032c0040t0001g0046 a0033c0043t0001g0225	181	229	0.7904	-3	c.796 others(12): Show c.7969_7971delGAT	p.Asp others(7): Show p.Asp2657del	ADGRG4	ENSG00000156920.11	transcript	ENST00000394143.6	protein_coding	17/26	8260/9933	7969/9243	2657/3080	INFO_REALIGN_3_PRIME	chrX	TogoVar
ADORA2B_chr17_15940130_15980746	15974795	CCAA CCAA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01106.hp2 HG01123.hp1 HG01168.hp2 others(14): Show HG01106.hp2 HG01123.hp1 HG01168.hp2 HG02015.hp2 HG02080.hp2 HG02148.hp2 HG02615.hp1 HG02630.hp1 HG02895.hp1 HG03516.hp2 HG03704.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 NA18985.hp2 NA19062.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 others(1): Show a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 a0002c0007t0003	a0002c0002t0003g0056 a0002c0002t0003g0063 a0002c0002t0003g0128 others(14): Show a0002c0002t0003g0056 a0002c0002t0003g0063 a0002c0002t0003g0128 a0002c0002t0003g0130 a0002c0002t0003g0146 a0002c0002t0003g0151 a0002c0002t0003g0153 a0002c0002t0003g0181 a0002c0002t0003g0195 a0002c0002t0003g0211 a0002c0002t0003g0255 a0002c0002t0003g0277 a0002c0002t0003g0290 a0002c0002t0005g0156 a0002c0002t0005g0218 a0002c0002t0007g0278 a0002c0007t0003g0042	17	346	0.0491	-3	c.457 others(10): Show c.457_459delAAC	p.Asn others(6): Show p.Asn153del	ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding	2/2	576/1522	457/999	153/332	INFO_REALIGN_3_PRIME	chr17	TogoVar
AEBP2_chr12_19434492_19527227	19439879	CGGCGGCA others(17): Show CGGCGGCAGCGGTGGGGGCGGCGGA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0200 a0002c0007t0002g0200	1	404	0.0025	-24	c.187 others(31): Show c.187_210delAGCGGTGGGGGCGGCGGAGGCGGC	p.Ser others(11): Show p.Ser63_Gly70del	AEBP2	ENSG00000139154.16	transcript	ENST00000266508.14	protein_coding	1/8	395/5830	187/1512	63/503	INFO_REALIGN_3_PRIME	chr12	TogoVar
AFF3_chr2_99540419_100147590	99593872	CGGCTGA CGGCTGA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00438.hp1 HG00738.hp2 HG01106.hp1 others(3): Show HG00438.hp1 HG00738.hp2 HG01106.hp1 HG02523.hp2 HG04115.hp2 NA20300.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0003 a0003c0006t0006 a0003c0006t0001 a0003c0006t0003 a0003c0006t0006	a0003c0006t0001g0034 a0003c0006t0001g0035 a0003c0006t0001g0068 others(3): Show a0003c0006t0001g0034 a0003c0006t0001g0035 a0003c0006t0001g0068 a0003c0006t0003g0039 a0003c0006t0003g0069 a0003c0006t0006g0052	6	100	0.0600	-6	c.178 others(15): Show c.1783_1788delTCAGCC	p.Ser others(13): Show p.Ser595_Ala596del	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	15/25	2122/10070	1783/3681	595/1226		chr2	TogoVar
AHNAK2_chr14_104932253_104983374	104948349	CGCTGAGG others(488): Show CGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACG TCGGCCTCCACCTTCAACGCAGACACATCCGCTGAGGCCTCGATGGACTT GCCAAGGGCAGACACCCCAAACGACAGCATCTTGAACTTGGGCATTTTGA ACTTGCTGTCTTTGGCAGTCACGTCCTTGTCGGCCAGGGACATGTCCCCC TCCAGCCGCGCACCATCCAGCTTGGCTCCTGGGGCCTTGACGTCCACCTC CACGCTGGGCAGAGACACCTCCACATCAGGGGCTGTCACTTCCACCTTGG GGTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCGGGGCCCTTG AGGTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTG CCCTTTGAGGCCGACTTCCTCGGGCACAGGGCCCTCCAGGAGTTTCACGT CCACCTGGCCAGCCTGGACCTTCACGTCGGCGGAAAGGGGCTGAAT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01099.hp2 HG01255.hp2 HG02258.hp1 others(2): Show HG01099.hp2 HG01255.hp2 HG02258.hp1 HG02717.hp1 HG03041.hp2	a0026 a0072 a0073 others(1): Show a0026 a0072 a0073 a0085	a0026c0042 a0072c0178 a0073c0171 others(1): Show a0026c0042 a0072c0178 a0073c0171 a0085c0172	a0026c0042t0002 a0072c0178t0002 a0073c0171t0002 others(1): Show a0026c0042t0002 a0072c0178t0002 a0073c0171t0002 a0085c0172t0002	a0026c0042t0002g0124 a0026c0042t0002g0295 a0072c0178t0002g0298 others(2): Show a0026c0042t0002g0124 a0026c0042t0002g0295 a0072c0178t0002g0298 a0073c0171t0002g0140 a0085c0172t0002g0296	5	356	0.0140	-495	c.660 others(9): Show c.6607_7101del	p.Ile others(15): Show p.Ile2203_Ser2367del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7238/18335	6607/17388	2203/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948601	CGCTGGGC others(488): Show CGCTGGGCAGAGACACCTCCACATCAGGGGCTGTCACTTCCACCTTGGGG TCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCGGGGCCCTTGAG GTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTGCC CTTTGAGGCCGACTTCCTCGGGCACAGGGCCCTCCAGGAGTTTCACGTCC ACCTGGCCAGCCTGGACCTTCACGTCGGCGGAAAGGGGCTGAATGCTGAG GTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGACTCATGTCGGCCT CCACCTTGGGTGGAGACACATCCACCGAGGCCTCGATGGACTTGCCTGGG GCAGACACCCCAAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCT GTCTTTGGTAGTCAGGTCCTTGTTGGCCAGGGTCAGGTCCCCCTGCAGAT GCGCACTATCCAGCTTGGCTCTTGGGGCCTGGACGTCCACCTCCAT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02723.hp2 HG02723.hp2	a0204 a0204	a0204c0053 a0204c0053	a0204c0053t0001 a0204c0053t0001	a0204c0053t0001g0065 a0204c0053t0001g0065	1	356	0.0028	-495	c.635 others(9): Show c.6355_6849del	p.Met others(15): Show p.Met2119_Ser2283del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6986/18335	6355/17388	2119/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948685	TTTCGGGG others(488): Show TTTCGGGGCCCTTGAGGTCCACTTTGGGCACCTTGAAACTGGGCATCTGC AGCTTGGGCAGGTGCCCTTTGAGGCCGACTTCCTCGGGCACAGGGCCCTC CAGGAGTTTCACGTCCACCTGGCCAGCCTGGACCTTCACGTCGGCGGAAA GGGGCTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGG AGACTCATGTCGGCCTCCACCTTGGGTGGAGACACATCCACCGAGGCCTC GATGGACTTGCCTGGGGCAGACACCCCAAACGACGGCATCTTGAACTTGG GCATTTTGAACTTGCTGTCTTTGGTAGTCAGGTCCTTGTTGGCCAGGGTC AGGTCCCCCTGCAGATGCGCACTATCCAGCTTGGCTCTTGGGGCCTGGAC GTCCACCTCCATGCTGGGCAGAGACACCTCGACATCGGGGACTCTCATTT CCACCTTGGGGTCTTTTAGGTCCAGTTTGGGGCCCTTGATGTCCAC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	-495	c.627 others(9): Show c.6271_6765del	p.Val others(15): Show p.Val2091_Glu2255del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6902/18335	6271/17388	2091/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949849	TCTTGAGG others(983): Show TCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACTTCGGCCTCCACCTTC GGCGCAGACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCAGACAC CCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGG CAGTCACATCCTTGTCGGCCAGGGACAGGTCACCCTCCAGCCGCACACTG TCCAGCTTGGCTCCTGGAGCCTCGACGTCCACCTCCACGCTGGGCAGAGA CACCTCCACGTCGGGGGCCATCACCTCCGCCTTGGGGCCTTTCAGGTCCA GCTTGGGGCCCTTGACGTCCATCTGGGGGCCCTTGAGGGCCACTTTGGGC ATCTTCAAACTGGGCATCTGCACCTTGGGGAGGTGCCCTTTGAAGCCGGC TCCCTCGGGAAGGGGGCCCTCCGGGAGTTTCACGTTCACTTGGCCAGCCT GGACCTCCAGGTCGGCGGAAGGGGACTGAATGCTGAGGTCAGTGGTCTTC AGGTCCCCCTGCATGGAGGGGAGGCTCACATCAGCTTCCACCTTCGGCTC AGACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCCGACACCCCAA ATGATGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTC ACCGCCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCTGCGCACCATCCAG CTTTGCTCTCGGGGCCTGGACGTCCACCTCCATGCTGGACAGAGACATCT TCACATCGGGGGCTGTCACTTCCACCTTGGGGCCTTTCAGGTCCAGCTTG GGGCCCTTAACATCTATCTGGGGCCCCTTGAGGTCCACTTTGGGCATCTT GAAACTGGGCATCTGCACTTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCT CGGACACAGGGCCCTCTGGGAGTTTCACGTCCACTTGGCCAGCCTGGACC TCCAGGTCAGCAGAAGGGGGCTGTATGCTCAGGTCAGTGGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01257.hp2 HG01258.hp1 HG02647.hp1 others(1): Show HG01257.hp2 HG01258.hp1 HG02647.hp1 HG02809.hp1	a0050 a0137 a0138 a0050 a0137 a0138	a0050c0020 a0137c0094 a0138c0095 a0050c0020 a0137c0094 a0138c0095	a0050c0020t0001 a0137c0094t0001 a0138c0095t0001 a0050c0020t0001 a0137c0094t0001 a0138c0095t0001	a0050c0020t0001g0016 a0137c0094t0001g0111 a0138c0095t0001g0112 a0050c0020t0001g0016 a0137c0094t0001g0111 a0138c0095t0001g0112	4	356	0.0112	-990	c.461 others(9): Show c.4612_5601del	p.Ala others(15): Show p.Ala1538_Lys1867del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5738/18335	4612/17388	1538/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950104	CCACGTCG others(488): Show CCACGTCGGGGGCCATCACCTCCGCCTTGGGGCCTTTCAGGTCCAGCTTG GGGCCCTTGACGTCCATCTGGGGGCCCTTGAGGGCCACTTTGGGCATCTT CAAACTGGGCATCTGCACCTTGGGGAGGTGCCCTTTGAAGCCGGCTCCCT CGGGAAGGGGGCCCTCCGGGAGTTTCACGTTCACTTGGCCAGCCTGGACC TCCAGGTCGGCGGAAGGGGACTGAATGCTGAGGTCAGTGGTCTTCAGGTC CCCCTGCATGGAGGGGAGGCTCACATCAGCTTCCACCTTCGGCTCAGACA CATCCACCGAGGCCTCGATGGACTTGCCTGGGGCCGACACCCCAAATGAT GGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACCGC CTTGTCGGCCAGGGACAGGTCCCCCTCCAGCTGCGCACCATCCAGCTTTG CTCTCGGGGCCTGGACGTCCACCTCCATGCTGGACAGAGACATCTT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02717.hp2 NA20129.hp2 HG02717.hp2 NA20129.hp2	a0074 a0075 a0074 a0075	a0074c0179 a0075c0164 a0074c0179 a0075c0164	a0074c0179t0003 a0075c0164t0001 a0074c0179t0003 a0075c0164t0001	a0074c0179t0003g0297 a0075c0164t0001g0301 a0074c0179t0003g0297 a0075c0164t0001g0301	2	356	0.0056	-495	c.485 others(9): Show c.4852_5346del	p.Lys others(15): Show p.Lys1618_Val1782del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5483/18335	4852/17388	1618/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950587	ACAGAGAC others(1973): Show ACAGAGACATCTTCACATCGGGGGCTGTCACTTCCACCTTGGGGCCTTTC AGGTCCAGCTTGGGGCCCTTAACATCTATCTGGGGCCCCTTGAGGTCCAC TTTGGGCATCTTGAAACTGGGCATCTGCACTTTGGGCAGGTGCCCTTTGA GGCCGGCTCCCTCGGACACAGGGCCCTCTGGGAGTTTCACGTCCACTTGG CCAGCCTGGACCTCCAGGTCAGCAGAAGGGGGCTGTATGCTCAGGTCAGT GGCCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACGTCGGCCTCCACCT TCGGCGCAGACACATCCACTGAGGCCTCGATGGACTTGCCTGGGGCAGAC ACCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTT GGTAGTCAAGTCCTTGTCGGCCAGGGACATGTCCTCCTCCAGCCGTCCAC CATCCAGCTTGGCTCCTGGGGCCTCGACATCCACCTCCACGCTGGGCAGA GAAACCTCCACATCAGGGGCTGTCACTTCCACCTTGGGGTCTTTTAGGTC CAGCTTGGGGCCCTTGATGTCTATTTCAGGGCCCTTGAGGTCCACTTTGG GCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTGCCCTTTGAGGCCG GCTCCCTCGGGCACGGGGCCCTCTGGGAGTTTCACGTCCAATTGGCCAGC CTGGAGCTCCAGGTCAGTGGAAGGGGGCTGAATGCTGAGGTCAGTGGTCT TGAGGTCCCCCTGCATGGAGGGGAGGCTCATGTCGGCCTCCACCTTGGGT GCAGACAGGTCCACGGAGGCCTCAATGGACTTGCCTGGGGCAGACACCCC GAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAG TCACGTCCTTGTCAGCCAGGGACAGGTCCCCGTCCAGCTGTGCGCCATCC AACTTGGCTCCCGGGGCCTGCATGTCCACCTCCACACTGGGCAGAGACAC AGCCACTTCGTGGGCCGTCACCTCTGCCTTATGACCTTTCAGGTCCAGCT TGGGGCCCCTGACTTCCACCTGGGGGCCCTTGAGGTCCACTTTGGGCATC TTCAAACTAGGCATCTGCACCTTGGGCAGGTGCCCTTTGAAGCCGGCTCC CTCAGGCACGTGGCCCTCCAGGAGCTTCACGTCCACCTGGCCAGCGTGGA CCTCCAGGTCAGCGGAAGGGGGCTGAATGCTGAGGTCAGTGGTCTTGAGG TCCCCCTGCATGGAGGGGAGACTCACGTCGGCCTCCACTTTGGGTGCAGA CACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCTGACGCCCCGAACG ATGGCATCTTGAACTTGGGCATTTTGAACCTGCTGTCTTTGGCAGTCACA TCCTTGTCGGCCAGGGACAGTTCCCCCTCCAGCCGCGCACTGTCCAGCTT GGCTCCCGGGGCCTCGACGTCCACCTCCACGCTGGGCAGAGACACCTCCA CATCAGGGGCTGTGACTTCCGCCTTGGGGCTTTTCAGGTCCAGCTTGGGG CCCTTGACGTCCACCTGGGGGCCCTTGAGGGCCACTTTGGGCATCTTGAA ACTGGGCATCTCCACCTTGGGCAAGTGCCCTTTAAGGCCAGCTCCCTCGG GCAGGTGGCCCTCCGGGAGCTTCACATCCACCTGGTCAGCCTGGACCTTC AGGTCAGTAGAAGCAGGCTGAATGCTGAGGTCAGTGGTCTTCAGGTCCCC CTGCATGGAGGGGAGACTCAGGTCGGCCTCCACCTTGGGTGCAGACACAT CCACCAAGGCCTTGATGGACTTCCCTGGGGCCGATACCCCGAACGACGGC ATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACGTCCTT GTCGGCCAGGGACAGGTCCCCCTCCAGCCACGCACCATCCAGCTTGGCCT TCTGGGCCTGGACATCCACCTCCATGCTGGG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0051 a0051	a0051c0051 a0051c0051	a0051c0051t0001 a0051c0051t0001	a0051c0051t0001g0024 a0051c0051t0001g0024	2	356	0.0056	-1980	c.288 others(9): Show c.2884_4863del	p.Pro others(14): Show p.Pro962_Leu1621del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5000/18335	2884/17388	962/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950839	CCTTGAGG others(2447): Show CCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACGTCGGCCTCCACCTTC GGCGCAGACACATCCACTGAGGCCTCGATGGACTTGCCTGGGGCAGACAC CCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGG TAGTCAAGTCCTTGTCGGCCAGGGACATGTCCTCCTCCAGCCGTCCACCA TCCAGCTTGGCTCCTGGGGCCTCGACATCCACCTCCACGCTGGGCAGAGA AACCTCCACATCAGGGGCTGTCACTTCCACCTTGGGGTCTTTTAGGTCCA GCTTGGGGCCCTTGATGTCTATTTCAGGGCCCTTGAGGTCCACTTTGGGC ACCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTGCCCTTTGAGGCCGGC TCCCTCGGGCACGGGGCCCTCTGGGAGTTTCACGTCCAATTGGCCAGCCT GGAGCTCCAGGTCAGTGGAAGGGGGCTGAATGCTGAGGTCAGTGGTCTTG AGGTCCCCCTGCATGGAGGGGAGGCTCATGTCGGCCTCCACCTTGGGTGC AGACAGGTCCACGGAGGCCTCAATGGACTTGCCTGGGGCAGACACCCCGA ACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTC ACGTCCTTGTCAGCCAGGGACAGGTCCCCGTCCAGCTGTGCGCCATCCAA CTTGGCTCCCGGGGCCTGCATGTCCACCTCCACACTGGGCAGAGACACAG CCACTTCGTGGGCCGTCACCTCTGCCTTATGACCTTTCAGGTCCAGCTTG GGGCCCCTGACTTCCACCTGGGGGCCCTTGAGGTCCACTTTGGGCATCTT CAAACTAGGCATCTGCACCTTGGGCAGGTGCCCTTTGAAGCCGGCTCCCT CAGGCACGTGGCCCTCCAGGAGCTTCACGTCCACCTGGCCAGCGTGGACC TCCAGGTCAGCGGAAGGGGGCTGAATGCTGAGGTCAGTGGTCTTGAGGTC CCCCTGCATGGAGGGGAGACTCACGTCGGCCTCCACTTTGGGTGCAGACA CATCCACCGAGGCCTCGATGGACTTGCCTGGGGCTGACGCCCCGAACGAT GGCATCTTGAACTTGGGCATTTTGAACCTGCTGTCTTTGGCAGTCACATC CTTGTCGGCCAGGGACAGTTCCCCCTCCAGCCGCGCACTGTCCAGCTTGG CTCCCGGGGCCTCGACGTCCACCTCCACGCTGGGCAGAGACACCTCCACA TCAGGGGCTGTGACTTCCGCCTTGGGGCTTTTCAGGTCCAGCTTGGGGCC CTTGACGTCCACCTGGGGGCCCTTGAGGGCCACTTTGGGCATCTTGAAAC TGGGCATCTCCACCTTGGGCAAGTGCCCTTTAAGGCCAGCTCCCTCGGGC AGGTGGCCCTCCGGGAGCTTCACATCCACCTGGTCAGCCTGGACCTTCAG GTCAGTAGAAGCAGGCTGAATGCTGAGGTCAGTGGTCTTCAGGTCCCCCT GCATGGAGGGGAGACTCAGGTCGGCCTCCACCTTGGGTGCAGACACATCC ACCAAGGCCTTGATGGACTTCCCTGGGGCCGATACCCCGAACGACGGCAT CTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACGTCCTTGT CGGCCAGGGACAGGTCCCCCTCCAGCCACGCACCATCCAGCTTGGCCTTC TGGGCCTGGACATCCACCTCCATGCTGGGCAGAGACACCTCGCCATCGGG GGCTGTCACTTCCGCCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTTAA CATCTATCTGGGGGCCCTTGAGGTCCACTTTGGGCATCTTGAAACTGGGC ATCTCCACTTTGGGCAGGTGCACTTTGGGGCCGGCTCCCTCGGGCACAGG GCCCTCCGGAAGTTTCACATCCACTTGGCCAGCCTGGACCTCCAGGTCAG CGGAAGGGGGCTGAATGCTGAGGTCAGTGGCCTTGAGGTCCCCCTGCATG GAGGAGAGGCTCACGTCGGCCTCCACCTTCGGCGCAGACACATCCACCGA GTCCTCCATGGACTTGCCTGGGGCCGACACCCCGAATGATGGCATCTTGA ACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACCTCCTTGTCGGCC AGGGACAGGTCCCCCTCCAGCCGCGCACCATCCAGCTTTGCTCTCGGGGC CTGGACGTCCACCTCCATGCTGGACAGAGACATCTTCACATCGGGGGCTG TCACTTCCGCCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTTGAGGTCC ACTTTGGGCATCTTCAAACTGGGCCTCTGCACCTTGGGCAGGTGCCCTTT GAGGCTGGCTCCCTCGGGCAGGGGGCCCTCCGGAAGTTTCACATCCACTT GGCCATCCTGGACCTCCAGGTCAGCGGAAGGGGTCTGGACGCTGAGGTCA GTGGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02109.hp1 HG02109.hp1	a0055 a0055	a0055c0205 a0055c0205	a0055c0205t0002 a0055c0205t0002	a0055c0205t0002g0069 a0055c0205t0002g0069	1	356	0.0028	-2454	c.215 others(9): Show c.2158_4611del	p.Thr others(14): Show p.Thr720_Lys1537del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4748/18335	2158/17388	720/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950872	CGTCGGCC others(488): Show CGTCGGCCTCCACCTTCGGCGCAGACACATCCACTGAGGCCTCGATGGAC TTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAACTTGGGCATTTT GAACTTGCTGTCTTTGGTAGTCAAGTCCTTGTCGGCCAGGGACATGTCCT CCTCCAGCCGTCCACCATCCAGCTTGGCTCCTGGGGCCTCGACATCCACC TCCACGCTGGGCAGAGAAACCTCCACATCAGGGGCTGTCACTTCCACCTT GGGGTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCAGGGCCCT TGAGGTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGG TGCCCTTTGAGGCCGGCTCCCTCGGGCACGGGGCCCTCTGGGAGTTTCAC GTCCAATTGGCCAGCCTGGAGCTCCAGGTCAGTGGAAGGGGGCTGAATGC TGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCAT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03453.hp2 HG03453.hp2	a0163 a0163	a0163c0098 a0163c0098	a0163c0098t0001 a0163c0098t0001	a0163c0098t0001g0122 a0163c0098t0001g0122	1	356	0.0028	-495	c.408 others(9): Show c.4084_4578del	p.Met others(15): Show p.Met1362_Asp1526del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4715/18335	4084/17388	1362/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951367	TGTCGGCC others(983): Show TGTCGGCCTCCACCTTGGGTGCAGACAGGTCCACGGAGGCCTCAATGGAC TTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAACTTGGGCATTTT GAACTTGCTGTCTTTGGCAGTCACGTCCTTGTCAGCCAGGGACAGGTCCC CGTCCAGCTGTGCGCCATCCAACTTGGCTCCCGGGGCCTGCATGTCCACC TCCACACTGGGCAGAGACACAGCCACTTCGTGGGCCGTCACCTCTGCCTT ATGACCTTTCAGGTCCAGCTTGGGGCCCCTGACTTCCACCTGGGGGCCCT TGAGGTCCACTTTGGGCATCTTCAAACTAGGCATCTGCACCTTGGGCAGG TGCCCTTTGAAGCCGGCTCCCTCAGGCACGTGGCCCTCCAGGAGCTTCAC GTCCACCTGGCCAGCGTGGACCTCCAGGTCAGCGGAAGGGGGCTGAATGC TGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGACTCACGTCG GCCTCCACTTTGGGTGCAGACACATCCACCGAGGCCTCGATGGACTTGCC TGGGGCTGACGCCCCGAACGATGGCATCTTGAACTTGGGCATTTTGAACC TGCTGTCTTTGGCAGTCACATCCTTGTCGGCCAGGGACAGTTCCCCCTCC AGCCGCGCACTGTCCAGCTTGGCTCCCGGGGCCTCGACGTCCACCTCCAC GCTGGGCAGAGACACCTCCACATCAGGGGCTGTGACTTCCGCCTTGGGGC TTTTCAGGTCCAGCTTGGGGCCCTTGACGTCCACCTGGGGGCCCTTGAGG GCCACTTTGGGCATCTTGAAACTGGGCATCTCCACCTTGGGCAAGTGCCC TTTAAGGCCAGCTCCCTCGGGCAGGTGGCCCTCCGGGAGCTTCACATCCA CCTGGTCAGCCTGGACCTTCAGGTCAGTAGAAGCAGGCTGAATGCTGAGG TCAGTGGTCTTCAGGTCCCCCTGCATGGAGGGGAGACTCAG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0050 a0050	a0050c0020 a0050c0020	a0050c0020t0001 a0050c0020t0001	a0050c0020t0001g0016 a0050c0020t0001g0016	2	356	0.0056	-990	c.309 others(9): Show c.3094_4083del	p.Leu others(15): Show p.Leu1032_Asp1361del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4220/18335	3094/17388	1032/5795		chr14	TogoVar
AKAP1_chr17_57080246_57126344	57106431	GGCTTGGA others(14): Show GGCTTGGATAGAAATGAGGAGA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02559.hp2 HG02647.hp1 HG02965.hp2 others(4): Show HG02559.hp2 HG02647.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp1 NA18906.hp2 NA19030.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0005 a0004c0004t0006 others(1): Show a0004c0004t0003 a0004c0004t0005 a0004c0004t0006 a0004c0004t0016	a0004c0004t0003g0155 a0004c0004t0005g0158 a0004c0004t0005g0161 others(4): Show a0004c0004t0003g0155 a0004c0004t0005g0158 a0004c0004t0005g0161 a0004c0004t0006g0160 a0004c0004t0016g0156 a0004c0004t0016g0157 a0004c0004t0016g0159	7	396	0.0177	-21	c.988 others(29): Show c.988_1008delAGCTTGGATAGAAATGAGGAG	p.Ser others(13): Show p.Ser330_Glu336del	AKAP1	ENSG00000121057.13	transcript	ENST00000337714.8	protein_coding	2/11	1165/3909	988/2712	330/903	INFO_REALIGN_3_PRIME	chr17	TogoVar
ALG13_chrX_111676170_111765649	111744768	ACCT ACCT	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00558.hp2 HG02965.hp1 HG02976.hp1 others(2): Show HG00558.hp2 HG02965.hp1 HG02976.hp1 HG03471.hp1 HG03486.hp1	a0001 a0003 a0001 a0003	a0001c0007 a0003c0004 a0001c0007 a0003c0004	a0001c0007t0001 a0003c0004t0001 a0001c0007t0001 a0003c0004t0001	a0001c0007t0001g0101 a0003c0004t0001g0010 a0003c0004t0001g0067 others(2): Show a0001c0007t0001g0101 a0003c0004t0001g0010 a0003c0004t0001g0067 a0003c0004t0001g0068 a0003c0004t0001g0069	5	191	0.0262	-3	c.283 others(12): Show c.2833_2835delCCT	p.Pro others(6): Show p.Pro945del	ALG13	ENSG00000101901.13	transcript	ENST00000394780.8	protein_coding	24/27	2882/4113	2833/3414	945/1137	INFO_REALIGN_3_PRIME	chrX	TogoVar
ALPK1_chr4_112292369_112447621	112432366	GTTC GTTC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00735.hp1 HG02040.hp2 HG03834.hp2 others(4): Show HG00735.hp1 HG02040.hp2 HG03834.hp2 NA18747.hp1 NA18970.hp1 NA19077.hp1 NA19082.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0010 a0004c0005t0002 a0004c0005t0010	a0004c0005t0002g0134 a0004c0005t0002g0164 a0004c0005t0002g0218 others(4): Show a0004c0005t0002g0134 a0004c0005t0002g0164 a0004c0005t0002g0218 a0004c0005t0010g0053 a0004c0005t0010g0220 a0004c0005t0010g0225 a0004c0005t0010g0234	7	306	0.0229	-3	c.282 others(12): Show c.2824_2826delTCT	p.Ser others(6): Show p.Ser942del	ALPK1	ENSG00000073331.18	transcript	ENST00000650871.1	protein_coding	11/16	3077/5399	2824/3735	942/1244	INFO_REALIGN_3_PRIME	chr4	TogoVar
ANKRD30A_chr10_37120598_37237567	37177323	GTCTTATT others(11794): Show GTCTTATTTATTTTTGATGAGGACTAGAACGTAAGTTAGATATTTTTAAG AGAGATACTTTTTGAAATATGCACGAGTGAATTTTTTGTGAAGGTGATTT GTTTTTCCTGCTCAGTCACCGAGTTAATGGCCACGTGAACGTAAAGATGA GCTTGATGTAGAGAGGGTTATGTGAGGTTTTCTATCAAAATGTGTTTGTT TTCTACATGTATCTGCTCTTAAGTCGAATTGTTTGCAAAGGAGGAAATTG TGTTTTTAAAAAAGAATTTAATTAGGAAATTTTGATACTCTTCATTACTA GGATTTATCCATTGAAATTATTTATTGCTATTACTTTTAACAGAGTCTCT GTGAGACTGTTTCACAGAAGGATGTGTGTTTACCCAAGGCTGCGCATCAA AAAGAAATAGATAAAATAAATGGAAAATTAGAAGGTAAGAACCGTTTTTT ATTTAAAAATCATTTGACCAAATATTTCTCTAAATTGATGAGGAAGGATA TCCTCTAGTAGCTGAAGAAAATTACCTCCTAAATGCAAACCATGGAAAAA AAGAGAAGTGCAATGGTCATAAGCTATGTGTCTCATCAGGCATTGGCAAC AGACTATATTGTGAGTGCTGAAGAGGAGCTGAATTACTAGTTTAAATTCA AGATATTCCAAGACGTGAGGAAAATGAGAAAATAAGAAAGAAGAAAGTAG TAATAGAGTAAATGAAGACTGAGAAAGACAGAGCGTACAGAGAGTACATG AAGGAACAAGAAACAGGTTTATGTAATGGAGGATGATAAAATGAAATGAT TGTTTAGGAAAAGATCGGGTATGGTTAGAAATTTGGGAAGAATATAATGT GACCTTCTAGAATCAAAATTTACCAGAGAATTACAGCAAAAATATTCTGA CTCTTAATGTCTTTCTCACTGGTGGGAAGCCATTAGGGATGGAAGCACCT GACCATGGAGAGCTGTGTTCTATTTGCAATAGGTGAGAATAAGCATATCT GCACGGCCACACATGTATATAAATTGTCATATACACTCCGTATAGACCAG AGGTTTTCAAACTTTAGAAAGTCAGCTGAAAACCTTGTTAACAATTCACA CTGAGATTCAGCCGACCTGGGATTCTGCATTTTTAAAAAGTTCTCAGGTG ATGCTGATGCTGGTGGTCCTTGGACGTTGCTCTGGGTAGCAAGAGGAGAG GCCTTTTGTGGGAAAAATGTGGAAGCAGAGCAACTGGATAGAAGGTCAGG ACAGAAAAGGTCAGGAGAAAACATCATGGTCCTCTTAATTTTGAGGATGT TTTTAGTCAGGGGAGAAGAAGAAAGGAGCAATGCAATAGAAATTATAGAT GGAAGGTACTACCACTCCTCAAAGTAAAAGGAAAGAGTGGGAAAAAATAA TTTTAACAGGTGTCGAATGGGAAGAATCAAGAGCACAAGTCTAGTGATTA TTTTTGCTAAAGCAGAGAGATTGTGAGGCAGGAAGCAGGGGACAAGAGAG AAGCCAGCTAGATGATTTTGGATTTTCTATGAAGGAAAATGGAGTGAGCT CACTTCGGAAGCATTTAGAAAAGTTTTACTGCAGAATGTTAGAGTGTGGG TGCTCTGGAGACTACTGGAATCATGAGGATTACTAGAATTGGACTAAACC TCAGTGACTCATTAATTTTCTTTATTACTATGAGGCGTCAAATATATATA TATATATATATATATATATATATATATATATATATATATATAGATGTGTG CATGTATGTATGTTTTTGACGTTCACAATTTGAATAAGATATACTTGAAT GTAAGAACCTTGGCTTTATTTTTAAGGAAGCAAATTGTGTTGGTAAAATT GCCATTTTATAAAACCTCATTAGTAAATAACATGCTACACGAAACCAGAC TAATTTTGAAAACCATAAAACTCTGAATTTATGACTTGAATACCTAAATT GTTGTTATTCGTAGGTATTTTACTGATTTTAACGTAGAAAATGTTATTAA TATTTAAAAGTCTGTTGTAACTAAATTTAAATGAAATACATCAATATTGA AAGCTTATTAAATTTGCTATTCCTGATGAGATTTGTACATCTTCCTGCAT GAGTGGATTAAGAGATATTGAGATGACTAAGCTAGAAATTACAAAAATGT TGGCATACTATTCCTACATTATGGGAATGAATACCCATATTCCAAGTATA TGGGTATGAAAATCAAGGAATATTTATATTTAATATTATGCTCTAAGTAT ATATCCAAGCTGATCAATTCATAACACTTTTTCTGATGAGATGTCAATTC TACATTCAGCTGAACTCTTATCCGAACTGTGTGGCTTCTCAATGACAGGA CATATTAAAGAACATGATGAATGTTTGTAATGCAATGATATAAATTATTA TAATGTGTTGCCTTAAAGACACATGGTGTAGCATTCTACGTTCAGCTTTT GCATTTATTTTCTCAGTGTCATGATTTGCTCCTGTGATTCCAGATCAGTT GTCTCCTTATCAGTCAGCATATACTTATTGGTATTAACACTTTTTGCAAA AATCATATATAAATGGTTGTACAATGTTGTTGTCATTCTACAGCAACTTT TTAATTTTTGTTCAGCGATTAGCTTGTTTTTCATTTATTTTAAGATTTCA GGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGTAGGCCAA GGTGGGTGGATCACGAGGTCAGGAGATCCAGACCATCCTGGCTAACATGG TGAAACCTCACCTCTACTAGAAATACAAAAAATCAGCCGGGCGTGGTGGT GGGTGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAAGAGAATGGCGT GAACCCGCGAGGCGGAGCTTGTGGTGAGCCGATATTACATTATTGTAACA TTGAAATATGCAGGTGAATGATATATAAAAAGCCTCTGGAAGTTTACTTC TAGTTTTTGATACTTTCACGTTACGTGTTTTTTCTTTTTTAGAGACAGAG TCTCGCTCTGTCATCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACT GCCACCTCCAGCTCCTGGGTTCAAGTGATTCTGGTACCTCAGTCACCCAA GTAGCTGAGATTACAGGCATGTGCCACCATACCTGGCTGATTTTTGTAAT TTTAGTGGGGACAGTGTTTCTAAAATAGTGATTTTGGCCAGGCTGGTTTG GAACTCCTGGCCTCCAGAGATCCGCCCTCCTCAGCCTTCCAAAGTGCTGG AATTACAGGCATGAGCCACTGCACCTGGCCTGTATTGGTTTGTTGATGGG TACGCTTGGACCTTTTTGTATAAGTGGATCAGGAAATTTTAAGAGGACTA AACTAGAGAACCCTATGAATGTGAAAATACTCGTATTTCACAGAGGTACA AAAATGAATATATTTATTAACTTTTATTCTATAGGTAGATATGCTGCTGA ATTTAGAACATTCTCTGCAATGATAAGTACGTTGTACCTTTGAACTCTCA TCACAACTTTGCAATTCCTAAACTCCAGGACAAATTGAAGGACATAATAG CTACATGTATATATTGACATAAGTGATTCTGACGTGTTTCCTTAACAATA TGCCATAGCATTCTCCCATTAGCTTAGTCATTTATTCTGTTTTGGTGGGG TGTGGCATGACTTGGTCATCTTATTAAATACAACTTCTTTCCTAATACGG CCGCTTTCTCTTACTGATAGTAGGATATTTCTGCTTTAGTTATTGTCACC TTAAATATATTTTCAATGTTGAAATCCTCACAGCATGTTTGATGAAATCT AGTTTTCAAATTTTCTTAGGTATATTTCTGTCACGTTGGCATGATAACAA ATGCAATAACCCAAAAGACCCCAAAAGCTAGTGTAATCCCTTTTGCAATC CAAGCATGAGGATTCATCTTCATGTTGACAGTGCGTGAATGTTCGGTAGG CTTTGTCAAGCTTGCATACAATAAATTATATATGTCCCTTTTCTTTTAGG GTCTCCTGTTAAAGATGGTCTTCTGAAGGTAATAACTTTTATATTTTTAT CTTGAGTATTAACTACATATTTTATGAAGTATACATTGTATATTAATTGT TTTCTTTCCAAACCCATTTAGGCTAACTGCGGAATGAAAGTTTCTATTCC AACTAAAGCCTTAGAATTGATGGACATGCAAACTTTCAAAGCAGGTAAAT TTTGTAATTTTAATTTTACTCTGGAAAGAAGAATATTAAAATATTTGAAA TGCTGTGAGACTTTTCATTCCCAATGTTGTTTTCTATTCATAATTTGATG GGAAATTTCGATACAAATAATGCCAATGTGAGTATTTCTGTTTGAGAAAA TGCCATTTACAAGCATAAGATTTAGAGATTTAGAAAAAAAATTCTGCTTT ACCTCATGTGGTTCTACTTTAATGTCCTGATCGGATAAAGTTTCCAATTT GCAATTTCTGTACGCGCTTGGTTTTAAGGTAGGTGAATTTTGAGACTGTG AAATATTTGCAGTGGTTCGAAGGCTGATTGGAATTCTGATGTTTACTCAG AAGAAAGTTTCACTTGCTGACATGACAGTTGTGAGTGTTACCACTCTGAG AATCTTAAGAAAATCAGTTTTTTTTTTAATAGATGACTGTGTGTGTGTGT GACTTATAATTTTAAAAAATCAGTCAAGCAATCATTACTTGATGACTCTT TGCTAGGCACCGCATTTTAGAAGAGTGACCCCAAAGCATTTGGCCTTGGT GTGTTTTAATGCTACTGTAATGAATTGCCTAGAGATACAAAAGAGCCTGA AGTAGTTTTTGTCATTCCCGTGAACGTTTACAACATTTTACAACAGGCCT TGCACGGTGGCACATGCCTGGAATCCTAGCAGTTTGGGAGACAAAGGCGG GCAGATAAGTTAAGGTCAGGAGTCCCAGACCAGCCTGGTCAAACTAGTGA AACCCCATCTCTACTAAACATAACAAAAAATAGCCGGTTGTGGTGGTGGG TGCCTGTCATCTCAGCTACTCTGGAGGCTGAGGCAGGAGAATGGCTTGAA CCTAGGACGCAGAAGTTGCATGAGCCGAGCTTGTGCCACTTTAGCCTGAG TGACAGAGTGAGACTCCATCTGAAAAGGTAAAGAAATAAAAACACAAAAC TCACAACATATGTGTGGTTATAGACTATGTGTAGAATTTGTTTTCATGTC TTATAGGCTGTGTGTAGAATTTGTTTTCATGTCTTAAATTTTCTTTTTTT TTGTTTGTATTTTTTTCTTCAGTTTTTTTGTTTGGTTTTGTTTTTGTTTT TTTGAGATCACCCAGGCTGGAGTGCCATGGCGCCATCTCGGCTCACGCAA GCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAG CTGAGACTCCAGGTGCCTGCCACCACGCCCGGCTAATGTTTTGTATCTTT AGTAGAGACAGGGTTTCAGTGTGTTAGCCAGGATGGTCTGATCCGGATCT CCTGACCTTGTGGTCCGCCCGTCTCGGCCTCCCAAAGTACTGGAATTACA GGCATGAGGCACCGTGCCCGGCCGATGTCTGAAATTTTCAATAAATAGTT GTACACTGTACATATTGTCCTGGAACTTCCTTGTTTGCTTATCGAATATT TTAGATGGACCCAATACAATTAGCTCTGCTTTGATTTAAGGCCTCATAGT TTGCCATGTTAACTCTAAAACACATTTAATTAGACTGTGTTTCCTAGCCA CTAAAAGTCGACATTAAATGGCAGCTGATATCACAGAGCTTTTACTGAAG TGGGAGTATTTACTGCTTCATCCACTGTTAGAAATTAAAATGAAAATATT TAAAATACACGAATTGGAAAAGTCCTACTTTCCAATACGCATTACAACTG TTACTCATTAACCATGAAAATTATGACATTGTGACATGTCATGAGTCTGA AAAATTTTAGTTTACACTTTTTAGAAAATATCAGTAAATAGGAGAAATAG GAAAAACATTATGTGAACTATTAGGCCCCCGGTGTATTTGTTGAACTTCA GAGATGCTCAGATCAGAAGCTAGAACAAGAATTTTCAAAAATGCATAAGG TTTTAAAGTGCCAAATAACAAATGGGCTCTTGTATATGAAATAATGTCTG AAGTTGCACCTCTGAGTCTTTTCTCTCTTTTTCTTTTTTAAAAAGATATA AATCAAACAAAATCAAAATTTTGTTTATAATGAAAAGAGTTGGTTACAGA TTCATTCTGTGTCTCATGGCACTGTGCTCTCTTTTTCCCTAGAGAGGATC TAGACTTTTCATCTGTTTACATGGGAAGAAGTAGTTCAGTTTATGGTCTC ATTTCTCATATAAACTGTGAAAATTCTCCACGGCTTCACATGCTAGTTCA GAAGATATTGATGCCTTGAGAATAAAGCATCTGGTTGTAACTCCAGCAGT TTTATATTTAAAGTATACCTAATATAATTGTCAACCACATTACTTTAGAA AACATAAACAAAAGATAGTTACACTTATTTATTTAAAAAATGGTGACCGG GTGCGGTGGCTCACGTCTGTAACGCCAGCACGTTGGGAGGCCGTGACTGG CAGATCACGAGGTTAGGAGATCGAGACCATCCTGACTAACACGGTGAAAC CCTGTCTCTACTAAAAATACAAAAAATTAGCCGGACGTGGTGGCACGCAT TTCTAATAATTTCTCAGGCGATGCTGCTGCTGGTGGTCCTTGGAGCTTGG TCTGAGTAGCAAAAGGAGAGGCCTTTCATGGGAAAATAGTGGAAGAAGAG CAGTTGGATAGAAGGTCAAGACATAACAGGGTCAAGAGAATGCATTATAT TGCTTTTATTTCTGGGTATGCTTTTAGCCAGAGAAGAAGAAGAAAAAGAT AAACAGAAATTATAGATTTAAGATACTATCACTAAACAAAGAGAAAGGAA ATGTTGAACAAATAAATTTGAAACAGTGTTGTATGGGAAGAATTCTACAG AGTTAGAGGTTTTTTTTTAATTTCTTTTTTTTTTTTTTTTTTTTTAGTAG AAGCATTCAAGTCAGGTAACGGGACAAACAAGAAAGAATGTAGGCAGGTA ATTCTGGAGACTCTGAGAAGAACAGTTGAGTGAACTCACTTCAGATGCAT GTAGATTATTTGCACTCCAGAATGTAGACTGTGGGCACTCCAGAGACTAC CAGAATTGGGGGAACCACAGTGACTCATTAGGTTTCTCTGTTACAATCAG GCATGAGAAATATATATATTTTGTTGATGTTAGCTATTGAAATGAGATAT ATTGGAAACTGAGAACATTGGCTTTATGTTTAAGGAAGTGTGTTGTTTTG GTAAAATTGCCATTCCACAAAAATTTATTATAGACTAATGATACACCAAA CCAGGCGAATTGTAGGATCTGAAAAAATACTGAATTTATACTTGAATAAT AAGATTGCTTTTTAAGATAAATATTGTGGTGACTTAACAATGTAAAAAAA GTTACTTATGTTTATTTAATCTATTGCAATAAATTTTTATATAAATATGT CAATATTGAAAGCTTAGTATAGATTATTTCCATGATGAGTTTTACACATC TTGCATGAGTGGATCGAGAAGCATTCAGATGGATAAAGTAGAGGATACAG AATCATAGGCATATGATTACACCCTATGGTTATGGAAAAAAACGAATATT CATATTTAGTATTATGACCTAAGTGTATATCCAAGCTGATCAATTCATAA CACTTCAGTGATGAGATGTCAGTTGTACATTCGGCTGAACTCTCATCATA ACTATGTACCTTTCCAAAGATAGGCTATATTAAAGAACAGGATGAATGGA ATAATATAAGTGATTCTAATGTGTTTCATTAAGTACGTGGCGTAGCATTC CATGTTCAGCTTTGACATTTATTTTCTCATATCAACCCTTTTTACACGTG AAACACAATCTCGCTCTTGAAGTCTTAACTGCATGATCTGTGAAACCTGT ATTTATATTTTCTTCAGTGTATTCTTGTCGTGTGTGTGTCCTAAACAAAC CAAAAGAAAACTTTCCAAATCTAAAGTATTCATTCTCCAATTGGAGCAAG AGGAGTCAGTTAGATACTATCACGGCATTCATTTGTGGCTGGCTTGTCAT ATTTACTTATGATTGATAATAAATCTATTTTGCTTTTTAGAGCCTCCCGA GAAGCCATCTGCCTTCGAGGTATTTAGTTTCATGATTTCATTTTGAATGA CTTATTAACTATGTATTTTGTGAAGTATACATTCTTTATTAATCATTTTG CTTCCAACCCCATTTAGCCTGCCATTGAAATGCAAAAGTCTGTTCCAAAT AAAGCCTTGGAATTGAAGAATGAACAAACATTGAGAGCAGGTAAATTTTT TAATGGAACTATGCAAAGACCAATATTTCAATATTGGACATTTTGATGGT CCTTCTATCCCCAATGCTTTATTTTTTTCAACTTTGATGAAAAGATTTGA TCTAGGTAATGCCAATACTGGTATTGATGTTTGAAAAGCTGGTATTACAA GCACAGTAATTTTCAATATCTTTTTTTAAAAATGTAGGCTTAATCTCAGA TGTTTCTACTTTTGTATCCTGAAACTGTAATGTTTTCTATTTTGAACTTC TGTATTTCTTAAGGATTCAAGAAGGTGAATGTTGAAACTCCAATTTCTTT TTTTAGCTCTTCGAAGCTTGATTCAAATTCCACGGTTTACTTCGGGGATC CCATCTCTTACTGATATAACCCTTGTGTTTTAACATGAATTACCTTGTTT CCGGTGTTGTCACTTTGAGAATCCTAAGAAAATCAGTAACTCGGACTAGT GAACTCTGTGTGTTTATGTGTGTGTGTGTCTGCGTGTGTGCCTGCGTGTG CCTGTGTGTGTGTGGTACCTTTACCTTGTAAAGATGAGGAAAGGAATTAT TCATTTCTTTGTGAATATTTGATAAACACACTTTTTCATGAAACTGTGAT TCTGAAGCATTTGGCTTTAGAGTCCTTTTACGCTAGTACCATTTATTGCC TGGAAGTAACCAATATTCTAAACTGTTTTTAGAAACTCTTCTTATGCATG TTTAAACATTTTACAACATGTGTGCGTGGTCATATTTAATATGTACGATT TTTTTCAACTTCTAATGTGTACATGGTTGTAGAGTGTAGTGTTCGGCAAC ATTCTTTTTTGATCAGCATTATAATTTTTAGAGACATCCGTAAAGGACAC AATTAATTGTGTTTTTAAATATTAGGTTATTTATAAAATTCCATTGTATG ACAGTACCATAGTTAATTGCACAATTTTTATGCCGAGAAGTAATAAATAA AACTGAAAACATGCAAATTTGGGAGTCTTTAAAAAGTTAGTTTTATCTGC TGATTTCTTAGTCATTAGAAATTAAAAGTAACATATTTAAAGTATTTCCT TGTGCAATCATACACTCCACTAAGAATTTGAACTGTGCCCCACAGCTTCT TAGAGCTATGGTGTGGCAACACGTTAGATCTCTGAAACGATCCAGGGTAC GCTTCTAAAAATGAGTGAACATGGTGACTTACCAAAGTGTGATTTGAGTT TCCTGGACCCTCTGCATGAAATGTGAACATGAGCTATGCTGAGATCACAA GTTAAATTTACTTTTGAAACCAGGTATACAGTTGATGGATGTCAAATGAT AAACGTATGCATAGTGATGAAACGGTCTTTTAAGTTTTAGGTGTGCATGT TTGCTTTTTTCCTGAACCTGATTCAAATAGTTGTAATTTGTACTTTGTGC TGATAAAGAAAACTGGACGTTATTTTTGGTATAAATTCTTTTTCTGTCTT ATGTCCCTGAGAACTCGTCAAGTCTTGAGTGGGCCTTGATTTTATCCTAT TACACGTGGGAACATTAGATTACTTAAGGCAATTATATTTTCCTATACAT TTCTGATGTTTCTCCAAGGTGTCACAAGCTGACTCTGAAGATATTGTTGC ATTAGGGAAGAAGTGTGTCATTGTAAATGAAGCAGTTCTTAATTTATACG CAATAAAAGTTTTTTAAGCTTATCTTCCTAAAGCTTATACACACGCAAAA CACACCCAATACACTGTCATAGCATACTGAAATGTAAAAGGGTTGGACAT ATAGTTGACTGACATCAAAAAGTTAATATTTCTAAAACATCTTATTCATT GATAAATCATCTTTTTTGAAGAACTGTGTAAGAGAGATTGCTGAGTCAAT CAATGTAAGTAATACTACCAAATAAAAAGTAACAAAGAAATGAGAGATGA TAGGTAATTCCAGTTTTCTGAATGAACAGGAAACCTAGGGCATACTGCGC TTCACAGGAGAATAGGATATGACTGCTTTGTGAAGAGATAATTCATACAA GTTAGTTAAATTTCTATTTTTCTGCATTCTAATGAAATAATGTTAATTTT CAGACTTTTTAGATTTCAGTTCTATTGGAATGACTATAGAAGTAGTCATT GCAATCAACAAAAAGAATATACGGGCTACAGAGGAAAAACCTCAGATTCG TGAATGAAAGTAGATTTGTATATGTTTTTAAAATTTTTAGTAGAGAACTG TGCTCATGAATGTATCTGTGATTAACCTTTTATAGATGAGATACTCCCAT CAGAATCCAAACAAAAGGACTATGAAGAAAGTTCTTGGGATTCTGAGGTA CTATGTGTTATTGATTTTTTAAATATTAGTATTGCATGATATGAAAACAT AAAATCAGATGCTTAGACTTTATGTTCTCACCTCTGCATGTGTCACCCCC AAATTATTTTTGATATTTTTCAGTATATGCTTAACGGAGAATCTGTGTGC TAAGTAGATTCCTGCTTCACAGTGAAATTCTGGGAATTTGTACGATTAAT TTAAGAAGCCAAAGTGGTATAGTGTAAAAACTAAGGCTTAGAATTCACTA GAAATTCACATGGGATCTGGAGTACTTTTGTCTAAAAGGAAAAGAATTAC ACTGAGTCCAGCTATGGGCAAATATATGATTCTGTCTTATATCTAGAGGT AGAAAAGTTCTAATTGTATTCATAGAGAGACACTTTAAACTGCAATATTG TAAAAGTTGGGACCTGAAAATTTAATGCCTGGGACTTGAACGTATTGACA TATCTTTATTGTTCAGTATAGATCTGAAGGAACATTTCAGCAGAAAGGAA AGCATGAGGAATAGGAAACCTTGTGGGAGTATAATAACAAGAGTATTGGT TGAGTAGTCTTTTGAAAAATATAAATTATATTTTCGCAAATAGAACTCCT TGAGTCCCCTTATGGCAGTCAAGCTGAAGCAGCATGAGCGTCATATCATA GTGATGTATTTTAAGGTCACAACGGCGGAAAGACATAGAAAGTATCTGAC CTCTTAGAAACAAGCAGCTGCTGCCTGGTGGTAACAGCAAAGGGTGGAAG TCAATAGGTAGATTTTATCTGATATTTTATTAGACAGAAAGACTTTAACA CTTGTTTGCTTTCATTTAGATGTGACATAATTTTTTTCTTACTGCATTTA CATTCTATTCAAACACTTTTTCTATCACCAAAAATTTTGTCAAAAACATG TTGCTTATTTTAAGCCCCTGTTTACCGAAAGAAAGCAGCTTTTTCAAATT CTGTACATACATTCTATGACAGACTCTAAAAGTTCTCTTCGTGACATGCA TGATTTTTAACAGTAAACAGTTCTATGATCGTGAATATTTTAAATGTTTA CTGCTGTATGTGTCCCGGCAAGTAGCAAATGTGTTGTATTTTGTTTGAAA TT	G G	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	286	0.0035	-11801	c.242 others(14): Show c.2421+1496_2469del	p.Ser others(13): Show p.Ser808_Thr824del	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	25/36		2422/4194	808/1397	INFO_REALIGN_3_PRIME	chr10	TogoVar
AP5B1_chr11_65768898_65785976	65778692	TGGCCAGC others(8): Show TGGCCAGCACCTGCAG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18989.hp2 NA18989.hp2	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0043 a0012c0017t0043	a0012c0017t0043g0041 a0012c0017t0043g0041	1	424	0.0024	-15	c.178 others(24): Show c.1786_1800delCTGCAGGTGCTGGCC	p.Leu others(13): Show p.Leu596_Ala600del	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	2185/6980	1786/2637	596/878		chr11	TogoVar
AP5Z1_chr7_4770623_4799397	4791165	CCAGCTCC others(5): Show CCAGCTCCACGCA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01070.hp2 HG01071.hp1 HG01243.hp2 others(22): Show HG01070.hp2 HG01071.hp1 HG01243.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02922.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 NA18906.hp1 NA18906.hp2 NA19043.hp2 NA19240.hp1 NA20129.hp2	a0003 a0007 a0011 others(1): Show a0003 a0007 a0011 a0015	a0003c0004 a0007c0011 a0007c0018 others(2): Show a0003c0004 a0007c0011 a0007c0018 a0011c0013 a0015c0029	a0003c0004t0004 a0003c0004t0007 a0007c0011t0007 others(4): Show a0003c0004t0004 a0003c0004t0007 a0007c0011t0007 a0007c0018t0019 a0011c0013t0021 a0011c0013t0045 a0015c0029t0020	a0003c0004t0004g0004 a0003c0004t0004g0016 a0003c0004t0004g0056 others(11): Show a0003c0004t0004g0004 a0003c0004t0004g0016 a0003c0004t0004g0056 a0003c0004t0004g0068 a0003c0004t0004g0069 a0003c0004t0004g0070 a0003c0004t0007g0017 a0003c0004t0007g0077 a0003c0004t0007g0101 a0007c0011t0007g0028 a0007c0018t0019g0054 a0011c0013t0021g0030 a0011c0013t0045g0030 a0015c0029t0020g0082	25	340	0.0735	-12	c.220 others(21): Show c.2209_2220delTCCACGCACAGC	p.Ser others(13): Show p.Ser737_Ser740del	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	17/17	2302/5529	2209/2424	737/807	INFO_REALIGN_3_PRIME	chr7	TogoVar
APOA4_chr11_116815700_116828304	116820896	CCTGCTCC others(5): Show CCTGCTCCTGCTG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02258.hp1 HG02258.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0001 a0010c0016t0001	a0010c0016t0001g0031 a0010c0016t0001g0031	1	462	0.0022	-12	c.115 others(21): Show c.1150_1161delCAGCAGGAGCAG	p.Gln others(13): Show p.Gln384_Gln387del	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding	3/3	1274/1471	1150/1191	384/396		chr11	TogoVar
ARAP3_chr5_141648402_141687230	141654147	ACCCCCGT others(5): Show ACCCCCGTGCCTG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0009 a0009	a0009c0023 a0009c0023	a0009c0023t0001 a0009c0023t0001	a0009c0023t0001g0031 a0009c0023t0001g0031	2	416	0.0048	-12	c.442 others(21): Show c.4426_4437delCAGGCACGGGGG	p.Gln others(15): Show p.Gln1476_Gly1479del	ARAP3	ENSG00000120318.16	transcript	ENST00000239440.9	protein_coding	33/33	4512/5258	4426/4635	1476/1544		chr5	TogoVar
ARID1B_chr6_156772378_157215779	156778052	CGCGGCGG others(2): Show CGCGGCGGCA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02622.hp2 HG02809.hp2 HG03486.hp1 others(1): Show HG02622.hp2 HG02809.hp2 HG03486.hp1 NA19030.hp1	a0025 a0026 a0027 others(1): Show a0025 a0026 a0027 a0028	a0025c0039 a0026c0038 a0027c0037 others(1): Show a0025c0039 a0026c0038 a0027c0037 a0028c0040	a0025c0039t0021 a0026c0038t0002 a0027c0037t0019 others(1): Show a0025c0039t0021 a0026c0038t0002 a0027c0037t0019 a0028c0040t0002	a0025c0039t0021g0047 a0026c0038t0002g0045 a0027c0037t0019g0046 others(1): Show a0025c0039t0021g0047 a0026c0038t0002g0045 a0027c0037t0019g0046 a0028c0040t0002g0050	4	150	0.0267	-9	c.382 others(16): Show c.382_390delGCGGCGGCA	p.Ala others(13): Show p.Ala128_Ala130del	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	1/20	685/10310	382/7119	128/2372	INFO_REALIGN_3_PRIME	chr6	TogoVar
ARID3A_chr19_921035_980939	971933	AGGC AGGC	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(26): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00621.hp2 HG01109.hp1 HG01257.hp1 HG01891.hp2 HG02040.hp2 HG02129.hp1 HG02280.hp2 HG02683.hp1 HG02818.hp2 HG02976.hp1 HG03017.hp2 HG03239.hp2 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 NA18906.hp2 NA18969.hp1 NA18984.hp1 NA19005.hp1 NA19009.hp1 NA19064.hp2 NA19068.hp2 NA19091.hp2 NA20905.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0007 a0001c0011 a0001c0014 others(6): Show a0001c0007 a0001c0011 a0001c0014 a0001c0020 a0001c0035 a0001c0049 a0001c0052 a0005c0041 a0007c0034	a0001c0007t0028 a0001c0007t0029 a0001c0007t0066 others(24): Show a0001c0007t0028 a0001c0007t0029 a0001c0007t0066 a0001c0007t0067 a0001c0007t0068 a0001c0007t0069 a0001c0007t0086 a0001c0007t0088 a0001c0007t0093 a0001c0007t0193 a0001c0007t0194 a0001c0011t0007 a0001c0011t0065 a0001c0011t0087 a0001c0011t0097 a0001c0011t0104 a0001c0014t0007 a0001c0014t0089 a0001c0014t0092 a0001c0014t0195 a0001c0020t0063 a0001c0020t0183 a0001c0035t0029 a0001c0049t0181 a0001c0052t0192 a0005c0041t0064 a0007c0034t0249	a0001c0007t0028g0194 a0001c0007t0028g0209 a0001c0007t0029g0153 others(26): Show a0001c0007t0028g0194 a0001c0007t0028g0209 a0001c0007t0029g0153 a0001c0007t0066g0211 a0001c0007t0067g0129 a0001c0007t0068g0113 a0001c0007t0069g0115 a0001c0007t0086g0193 a0001c0007t0088g0258 a0001c0007t0093g0208 a0001c0007t0193g0230 a0001c0007t0194g0176 a0001c0011t0007g0069 a0001c0011t0007g0100 a0001c0011t0065g0034 a0001c0011t0087g0149 a0001c0011t0097g0059 a0001c0011t0104g0037 a0001c0014t0007g0291 a0001c0014t0089g0285 a0001c0014t0092g0139 a0001c0014t0195g0265 a0001c0020t0063g0313 a0001c0020t0183g0312 a0001c0035t0029g0088 a0001c0049t0181g0004 a0001c0052t0192g0251 a0005c0041t0064g0363 a0007c0034t0249g0231	29	364	0.0797	-3	c.166 others(12): Show c.1666_1668delGGC	p.Gly others(6): Show p.Gly556del	ARID3A	ENSG00000116017.11	transcript	ENST00000263620.8	protein_coding	9/9	1958/5948	1666/1782	556/593	INFO_REALIGN_3_PRIME	chr19	TogoVar
ARL17A_chr17_46547756_46584691	46557358	ACTTTAC ACTTTAC	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00735.hp2 NA20805.hp2 HG00735.hp2 NA20805.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0010 a0003c0004t0001g0010	2	146	0.0137	-6	c.526 others(13): Show c.526_531delGTAAAG	p.Val others(13): Show p.Val176_Lys177del	ARL17A	ENSG00000185829.19	transcript	ENST00000336125.6	protein_coding	4/4	639/5242	526/534	176/177		chr17	TogoVar
ARMH2_chr6_24792335_24803917	24798731	CCTT CCTT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00323.hp1 HG01069.hp2 HG03491.hp2 others(1): Show HG00323.hp1 HG01069.hp2 HG03491.hp2 HG03710.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0009 a0003c0006t0001g0009	4	444	0.0090	-3	c.124 others(10): Show c.124_126delAAG	p.Lys others(5): Show p.Lys42del	ARMH2	ENSG00000260286.4	transcript	ENST00000565469.4	protein_coding	1/2	186/828	124/693	42/230		chr6	TogoVar
ASCL1_chr12_102952674_102965513	102958393	CGCA CGCA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00423.hp2 HG00741.hp1 HG01106.hp1 others(6): Show HG00423.hp2 HG00741.hp1 HG01106.hp1 HG02135.hp2 HG02922.hp1 HG02976.hp1 HG03209.hp1 HG03225.hp2 NA21309.hp2	a0004 a0004	a0004c0007 a0004c0013 a0004c0020 a0004c0007 a0004c0013 a0004c0020	a0004c0007t0002 a0004c0007t0004 a0004c0013t0001 others(1): Show a0004c0007t0002 a0004c0007t0004 a0004c0013t0001 a0004c0020t0002	a0004c0007t0002g0001 a0004c0007t0004g0001 a0004c0013t0001g0001 others(1): Show a0004c0007t0002g0001 a0004c0007t0004g0001 a0004c0013t0001g0001 a0004c0020t0002g0001	9	354	0.0254	-3	c.184 others(10): Show c.184_186delCAG	p.Gln others(5): Show p.Gln62del	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding	1/2	755/2481	184/711	62/236	INFO_REALIGN_3_PRIME	chr12	TogoVar
ASCL1_chr12_102952674_102965513	102958393	CGCAGCAG others(2): Show CGCAGCAGCA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01168.hp1 HG03491.hp2 HG03492.hp1 others(1): Show HG01168.hp1 HG03491.hp2 HG03492.hp1 HG04199.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0003 a0007c0008t0023 a0007c0008t0003 a0007c0008t0023	a0007c0008t0003g0001 a0007c0008t0023g0001 a0007c0008t0003g0001 a0007c0008t0023g0001	4	354	0.0113	-9	c.178 others(16): Show c.178_186delCAGCAGCAG	p.Gln others(11): Show p.Gln60_Gln62del	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding	1/2	749/2481	178/711	60/236	INFO_REALIGN_3_PRIME	chr12	TogoVar
ASCL1_chr12_102952674_102965513	102958393	CGCAGCAG others(5): Show CGCAGCAGCAGCA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03704.hp1 HG03704.hp1	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0001 a0011c0021t0001	a0011c0021t0001g0001 a0011c0021t0001g0001	1	354	0.0028	-12	c.175 others(19): Show c.175_186delCAGCAGCAGCAG	p.Gln others(11): Show p.Gln59_Gln62del	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding	1/2	746/2481	175/711	59/236	INFO_REALIGN_3_PRIME	chr12	TogoVar
ATF7IP2_chr16_10381061_10488638	10473936	AACTTGAT others(5): Show AACTTGATTCTAT	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18612.hp1 NA18612.hp1	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0002 a0008c0020t0002	a0008c0020t0002g0006 a0008c0020t0002g0006	1	376	0.0027	-12	c.149 others(21): Show c.1498_1509delCTTGATTCTATA	p.Leu others(13): Show p.Leu500_Ile503del	ATF7IP2	ENSG00000166669.14	transcript	ENST00000562102.6	protein_coding	12/14	1801/3741	1498/2049	500/682	INFO_REALIGN_3_PRIME	chr16	TogoVar
ATG9B_chr7_151010151_151029494	151023910	GCTC GCTC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01167.hp1 HG02280.hp1 HG02630.hp2 others(6): Show HG01167.hp1 HG02280.hp1 HG02630.hp2 HG02717.hp2 HG02818.hp1 HG02895.hp1 HG03453.hp1 HG03516.hp1 HG03579.hp1	a0006 a0015 a0034 others(1): Show a0006 a0015 a0034 a0035	a0006c0008 a0015c0016 a0034c0026 others(1): Show a0006c0008 a0015c0016 a0034c0026 a0035c0027	a0006c0008t0001 a0015c0016t0001 a0034c0026t0002 others(1): Show a0006c0008t0001 a0015c0016t0001 a0034c0026t0002 a0035c0027t0001	a0006c0008t0001g0024 a0015c0016t0001g0065 a0015c0016t0001g0067 others(2): Show a0006c0008t0001g0024 a0015c0016t0001g0065 a0015c0016t0001g0067 a0034c0026t0002g0066 a0035c0027t0001g0068	9	466	0.0193	-3	c.511 others(10): Show c.511_513delGAG	p.Glu others(6): Show p.Glu171del	ATG9B	ENSG00000181652.20	transcript	ENST00000639579.2	protein_coding	1/14	584/3423	511/2775	171/924		chr7	TogoVar
ATG9B_chr7_151010151_151029494	151024309	AAGG AAGG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19030.hp2 NA19043.hp1 NA20129.hp2 NA19030.hp2 NA19043.hp1 NA20129.hp2	a0016 a0036 a0016 a0036	a0016c0022 a0036c0025 a0016c0022 a0036c0025	a0016c0022t0001 a0036c0025t0010 a0016c0022t0001 a0036c0025t0010	a0016c0022t0001g0058 a0036c0025t0010g0181 a0016c0022t0001g0058 a0036c0025t0010g0181	3	466	0.0064	-3	c.112 others(10): Show c.112_114delCCT	p.Pro others(5): Show p.Pro38del	ATG9B	ENSG00000181652.20	transcript	ENST00000639579.2	protein_coding	1/14	185/3423	112/2775	38/924		chr7	TogoVar
ATP1B4_chrX_120357089_120388237	120371137	TAACTTC TAACTTC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01952.hp1 HG01952.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0008 a0006c0006t0001g0008	1	353	0.0028	-6	c.499 others(13): Show c.499_504delTTCAAC	p.Phe others(13): Show p.Phe167_Asn168del	ATP1B4	ENSG00000101892.12	transcript	ENST00000218008.8	protein_coding	4/8	579/4757	499/1074	167/357	INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	78042718	CTAA CTAA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18974.hp1 NA18974.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0026 a0009c0010t0026	a0009c0010t0026g0104 a0009c0010t0026g0104	1	233	0.0043	-3	c.393 others(12): Show c.3937_3939delAAT	p.Asn others(7): Show p.Asn1313del	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	20/23	4101/8492	3937/4503	1313/1500	INFO_REALIGN_3_PRIME	chrX	TogoVar
ATRX_chrX_77499880_77791216	77593829	TAGA TAGA	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01109.hp1 HG01109.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0010 a0005c0009t0010	a0005c0009t0010g0086 a0005c0009t0010g0086	1	218	0.0046	-3	c.597 others(12): Show c.5974_5976delTCT	p.Ser others(7): Show p.Ser1992del	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	26/35	6191/11165	5974/7479	1992/2492		chrX	TogoVar

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